el Alzheimer no presenta un parkinsonismo asimétrico

Por como nos lo describen como un fenómeno apráxico que se sigue de un parkinsonismo rígido-acinético asimétrico y con mioclonías sobreañadidas es típico de la degeneración córticobasal. La enfermedad de parkinson no puede ser porque no presentan apraxia como rasgo inicial, el Alzheimer no presenta un parkinsonismo asimétrico y el Hungtinton típico no es de personas tan mayores y cuando debuta con edad avanzada se comporta como una corea.

Por como nos lo describen como un fenómeno apráxico que se sigue de un parkinsonismo rígido-acinético asimétrico y con mioclonías sobreañadidas es típico de la degeneración córticobasal. La enfermedad de parkinson no puede ser porque [HIDDEN], el Alzheimer no presenta un parkinsonismo asimétrico y [HIDDEN] y el Hungtinton típico no es de personas tan mayores y [HIDDEN].

Una paciente de 65 años debutó dos años antes con una apraxia del habla y evolutivamente ha desarrollado un parkinsonismo rigido-acinético de predominio en hemicuerpo derecho con mioclonias sobreimpuestas y fenómeno de mano alienígena o miembro extraño. ¿Qué diagnóstico considera más probable?

Roberto Ventura

He is an international professor, author of numerous publications and books. His book "400 respuestas a 400 preguntas sobre la demencia" (400 answers to 400 questions about dementia) published in 2007, in several Latin American countries, helped many families in Iberoamerica. Books 2006, 400 respuestas a 400 preguntas sobre la demencia, () 2007, 400 respuestas a 400 preguntas sobre la demencia, Volumen II guía para la familia. 2008, Temas de neuropsiquiatría.() 2009, Avances de neuropsiquiatría Volumen I y II. 2011, Enfermedad de Parkinson y otras enfermedades relacionadas () 2012, Enfermedad de Parkinson y otras enferemedades extrapiramidales (coauthored ) 2018, El Alzehimer en Iberoamerica (coauthored). References External links 1957 births Uruguayan psychiatrists Uruguayan writers Uruguayan musicians Living people University of the Republic (Uruguay) faculty Physicians from Montevideo

Small Bowel Crohn's Disease Recurrence is Common After Total Proctocolectomy for Crohn's Colitis.

Surgical intervention for Crohn's disease involving the colon is often a total proctocolectomy with end ileostomy. There are limited data regarding postoperative small bowel recurrence rates in the recent era. The purpose of this study was to determine the rate of small bowel Crohn's disease recurrence following total proctocolectomy and secondarily define risk factors for disease recurrence. This was a retrospective cohort study. The study was conducted at four hospitals within a single healthcare system. Patients were those with Crohn's disease undergoing total proctocolectomy with end ileostomy between 2009-2019. Main outcome measures were clinical, endoscopic, radiographic, and/or surgical Crohn's disease recurrence. In total, 193 patients were included with a median follow-up of 1.8 years (IQR 0.4-4.6). Overall, 74.6% (n = 144) of patients had been previously exposed to biologic therapy, and 51.3% (n = 99) had a history of small bowel Crohn's disease. Postoperatively, 14.5% (n = 28) of patients received biologic therapy. Crohn's disease recurrence occurred in 23.3% (n = 45) of patients with an estimated median 5-year recurrence rate of 40.8% (95% CI' 30.2-51.4). Surgical recurrence occurred in 8.8% (n = 17) of patients with an estimated median 5-year recurrence rate of 16.9% (95% CI' 8.5-25.3). On multivariable analysis, prior small bowel surgery for Crohn's disease (HR 2.61; 95% CI' 1.42-4.81) and Crohn's diagnosis at age <18 years (HR 2.56; 95% CI' 1.40-4.71) were associated with Crohn's recurrence. In patients without prior small bowel Crohn's disease, 14.9% (n = 14) had Crohn's recurrence with an estimated 5-year overall recurrence rate of 31.1% (95% CI' 13.3-45.3) and 5-year surgical recurrence rate of 5.7% (95% CI' 0.0-12.0). The study was limited by its retrospective design and lack of consistent follow-up on all patients. Greater than one third of patients who underwent total proctocolectomy for Crohn's disease were estimated to have small bowel Crohn's recurrence at 5 years after surgery. Patients with a history of small bowel surgery for Crohn's and diagnosis at any early age may benefit from more intensive postoperative surveillance and consideration for early medical prophylaxis. See Video Abstract at http://links.lww.com/DCR/B762. ANTECEDENTES:La cirugia para la enfermedad de Crohn que involucra el colon es a menudo una proctocolectomía total con ileostomía terminal. Hay datos limitados con respecto a las tasas de recurrencia posoperatoria de la enfermedad de Crohn del intestino delgado en la actualidad.OBJETIVO:Buscamos determinar la tasa de recurrencia de la enfermedad de Crohn del intestino delgado después de la proctocolectomía total y, en segundo lugar, definir los factores de riesgo de recurrencia de la enfermedad.DISEÑO:Estudio de cohorte retrospectivo.ENTORNO CLINICO:Cuatro hospitales de un mismo sistema sanitario.PACIENTES:Pacientes con enfermedad de Crohn sometidos a proctocolectomía total con ileostomía terminal entre 2009-2019.PRINCIPALES MEDIDAS DE VALORACIÓN:Recurrencia clínica, endoscópica, radiográfica y / o quirúrgica de la enfermedad de Crohn.RESULTADOS:Se incluyeron 193 pacientes con un seguimiento promedio de 1,8 años (IQR 0,4-4,6). El 74,6% (n = 144) de los pacientes habían recibido previamente terapia biológica y el 51,3% (n = 99) tenían antecedentes de enfermedad de Crohn del intestino delgado. Después de la operación, el 14,5% (n = 28) de los pacientes recibieron terapia biológica. La recurrencia de la enfermedad de Crohn ocurrió en el 23,3% (n = 45) de los pacientes con una tasa de recurrencia media estimada a los 5 años del 40,8% (IC del 95%: 30,2-51,4). La recidiva quirúrgica se produjo en el 8,8% (n = 17) de los pacientes con una tasa de recidiva media estimada a los 5 años del 16,9% (IC del 95%: 8,5-25,3). En el análisis multivariable, la cirugía previa del intestino delgado para la enfermedad de Crohn (HR 2,61, IC del 95%: 1,42-4,81) y el diagnóstico de Crohn a la edad <18 (HR 2,56, IC del 95%: 1,40-4,71) se asociaron con la recurrencia de Crohn. En pacientes sin enfermedad previa de Crohn del intestino delgado, el 14,9% (n = 14) tuvo recurrencia de Crohn con una tasa de recurrencia general estimada a 5 años del 31,1% (IC del 95%: 13,3-45,3) y una tasa de recurrencia quirúrgica a 5 años del 5,7% (IC del 95%: 0,0-12,0).LIMITACIONES:Diseño retrospectivo, falta de seguimiento constante de todos los pacientes.CONCLUSIONES:Se estimó que más de un tercio de los pacientes que se sometieron a proctocolectomía total tenían recurrencia de Crohn del intestino delgado a los 5 años después de la cirugía. Los pacientes con antecedentes de cirugía por enfermedad de Crohn del intestino delgado y diagnóstico a una edad temprana pueden beneficiarse de una vigilancia posoperatoria más intensiva y la consideración de una profilaxis médica temprana. Consulte Video Resumen en http://links.lww.com/DCR/B762. (Traducción- Dr. Ingrid Melo).

[Neuropsychological evaluation can contribute to the diagnosis of movement disorders].

Neurodegenerative diseases of the extrapyramidal system can be difficult to identify, particularly those with discrete symptoms or a non-specific or polymorphous complex motor expression. Nevertheless, most of the patients with these diseases present a particular cognitive pattern so the neuropsychological evaluation can contribute significantly to diagnosis. Progressive supranuclear palsy, corticobasal degeneration, Huntington's disease, and Lewy body dementia can be easily identified on the basis of their distinctive motor and cognitive features. Clinical manifestations may be less specific in other diseases such as striatonigric degeneration or idiopathic Parkinson's disease. We present here the characteristic neuropsychological features of each of these diseases and their contribution to diagnosis.

Rectal Cancer in Adolescent and Young Adult Patients: Pattern of Clinical Presentation and Case-Matched Comparison of Outcomes.

Rectal cancer in adolescents and young adults (age ≤39) is increasing. Early diagnosis is a challenge in this subset of patients. This study aims to analyze the presentation pattern and outcomes of sporadic rectal cancer in adolescents and young adults. This is a retrospective study. This study was conducted at 3 European tertiary centers. Data on adolescents and young adults operated on for sporadic rectal cancer (January 2008 through October 2019) were analyzed. To compare outcomes, adolescents and young adults were matched to a group of patients aged ≥40 operated on during the same period. The primary outcomes measured were clinical presentation and long-term outcomes. Sporadic rectal cancers occurred in 101 adolescents and young adults (2.4%; mean age, 33.5; range, 18-39); 51.5% were male, and a smoking habit was reported by 17.8% of patients. The rate of a family history for colorectal cancer was 25.7%, and of these patients, 24.7% were obese. Diagnosis based on symptoms was reported in 92.1% patients, and the mean time from first symptoms to diagnosis was 13.7 months. The most common symptom at diagnosis was rectal bleeding (68.8%), and 12% and 34% of the adolescents and young adults presented with locally advanced or metastatic disease at diagnosis. Consequently, 68.3% and 62.4% adolescents and young adults received neoadjuvant and adjuvant treatments. The rate of complete pathological response was 24.1%; whereas 38.6% patients had stage IV disease, and 93.1% were microsatellite stable. At a mean follow-up of 5 years, no difference in cancer-specific survival, but a lower disease-free survival was reported in adolescents and young adults (p < 0.0001) vs the matched group. Adolescents and young adults with stages I to II disease had shorter cancer-specific survival and disease-free survival (p = 0.006; p < 0.0001); with stage III disease, they had a shorter disease-free survival (p = 0.01). This study was limited by its observational, retrospective design. The significantly delayed diagnosis in adolescents and young adults may have contributed to the advanced disease at presentation and lower disease-free survival, even at earlier stages, suggesting a higher metastatic potential than in older patients. See Video Abstract at http://links.lww.com/DCR/B537. ANTECEDENTES:El cáncer de recto en adolescentes y adultos jóvenes (edad ≤ 39) está aumentando. El diagnóstico temprano es un desafío en este subgrupo de pacientes.OBJETIVO:Analizar el cuadro de presentación y los desenlaces en adolescentes y adultos jóvenes con cáncer de recto esporádico.DISEÑO:Estudio retrospectivo.ÁMBITO:Tres centros europeos de tercer nivel.PACIENTES:Se analizaron los datos de adolescentes y adultos jóvenes operados de cáncer de recto esporádico (enero de 2008 - octubre de 2019). Para comparar los desenlaces se emparejó a adolescentes y adultos jóvenes con un grupo de pacientes mayores de 40 años operados en el mismo período de tiempo.PRINCIPALES VARIABLES ANALIZADAS:Cuadro clínico, resultados a largo plazo.RESULTADOS:Los cánceres de recto esporádicos en adolescentes y adultos jóvenes fueron 101 (2,4%, edad media: 33,5, rango 18-39). El 51,5% eran hombres, el 17,8% de los pacientes fumaba. El 25,7% tentía antecedentes familiares de cáncer colorrectal. El 24,7% eran obesos. El diagnóstico con base en los síntomas se informó en el 92,1% de los pacientes, el tiempo promedio desde los primeros síntomas hasta el diagnóstico fue de 13,7 meses. El síntoma más común en el momento del diagnóstico fue el sangrado rectal (68,8%). 12% y 34% de adolescentes y adultos jóvenes presentaron enfermedad localmente avanzada o metastásica en el momento del diagnóstico. Por lo tanto, el 68,3% y el 62,4% de adolescentes y adultos jóvenes recibieron neoadyuvancia y adyuvancia. La tasa de respuesta patológica completa fue del 24,1%; mientras que el 38,6% estaban en estadio IV. El 93,1% eran microsatelite estable. Con una media de seguimiento de 5 años, no se observaron diferencias en la sobrevida específica del cáncer, pero se informó una menor sobrevida libre de enfermedad en adolescentes y adultos jóvenes (p <0,0001) frente al grupo emparejado. Los adolescentes y adultos jóvenes en estadios I-II tuvieron una sobrevida específica por cáncer y una sobrevida libre de enfermedad más corta (p = 0,006; p <0,0001); el estadio III tuvo una sobrevida libre de enfermedad más baja (p = 0,01).LIMITACIONES:Diseño observacional y retrospectivo.CONCLUSIONES:El diagnóstico notablemente demorado en adolescentes y adultos jóvenes puede contribuir a la presentación de una enfermedad avanzada y a una menor sobrevida libre de enfermedad, incluso en estadios más tempranas, lo cual implica un mayor potencial metastásico en comparación con pacientes mayores. Consulte Video Resumen en http://links.lww.com/DCR/B537.

[Classification of parkinsonian syndromes via factorial discriminant analysis of brain SPECT data].

The objective was to assess the value of single photon emission computerized tomography (SPECT) and factorial discriminant analysis (FDA) in the differential diagnosis of Parkinson's disease (PD), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). Sixty-two patients with clinical diagnoses of either CBD, PSP or PD were studied using brain HmPaO-SPECT. Thirteen pairs of regions of interest (ROIs) were drawn on the slices located 50mm and 90mm above the canthomeatal plane. Twenty-six uptake indices and 13 asymmetry indices were determined. FDA was performed in order to determine whether or not the patients could be classified into the correct clinical group on the basis of SPECT data alone. The most discriminant parameters were used to generate two predictive scores, which were tested in a second group of 15 patients. FDA of all 39 variables correctly classified all the patients. A subset of 10 variables was used to build predictive scores, which correctly classified 90% of PD patients, 100% of PSP patients and 86% of CBD patients. When tested in the validation group of 15 patients, these predictive scores correctly classified 87% of the individuals. The frontal medial, temporoparietal and parietal regions were the most discriminant. Using SPECT data alone, this study enabled us to distinguish between PD, PSP and CBD in patients with clear clinical presentations of the diseases in question. This novel, statistical approach provides reliable information. However, a prospective study dealing with de novo parkinsonian syndromes will be necessary.

What Can an Aging Pouch Tell Us? Outcomes of Ileoanal Pouches Over 20 Years Old.

Little is known about the long-term functional outcomes of restorative proctocolectomy. The aim of this study was to examine ileoanal pouch outcomes 20 and 30 years postoperatively. This is a retrospective case series. This study was conducted at a tertiary care referral center. Patients who underwent restorative proctocolectomy between 1980 and 1994 were identified. Those with ≥20 years of in-person follow-up were included. Pouch function, pouchitis, anal stricture, and pouch failure rates were analyzed. A total of 203 patients had ≥20 years of follow-up. Of those, 71 had ≥30 years of follow-up. Initial diagnoses included ulcerative colitis (83%), indeterminate colitis (9%), familial adenomatous polyposis (4%), and Crohn's disease (3%). Twenty-one percent of those with ulcerative or indeterminate colitis later transitioned to Crohn's disease. Mean daily stool frequency was 7 (IQR 6-8), 38% experienced seepage, 31% had anal stenosis, 47% experienced pouchitis, and 18% had pouch failure. Over time, stool frequency increased in 41% of patients, stayed the same in 43%, and decreased in 16%. Patients older than 50 years at the time of construction had more daily bowel movements (median 8 vs 6; p = 0.02) and more seepage (77% vs 35%; p = 0.005) than those younger than 50 years. Patients with Crohn's disease had higher stool frequency (median 8 vs 6; p < 0.001) and higher rates of anal stenosis (44% vs 26%; p = 0.02), pouchitis (70% vs 40%; p < 0.001), and pouch failure (38% vs 12%; p < 0.001) compared to non-Crohn's patients. Patients with ≥30 years of follow-up had similar function as those with 20-30 years of follow-up. This was a retrospective, single-institution study. Only 35% of pouches created during the study period had >20 years of follow-up. Most patients maintain reasonably good function and retain their pouches after 20 years. Over time, stool frequency and seepage increase. Older age and Crohn's disease are associated with worse outcomes. See Video Abstract at http://links.lww.com/DCR/B801. ANTECEDENTES:se sabe poco sobre los resultados funcionales a largo plazo de la proctocolectomía restauradora.OBJETIVO:El objetivo de este estudio fue examinar los resultados del reservorio ileoanal 20 y 30 años después de la operación.DISEÑO:Serie de casos retrospectiva.ENTORNO CLÍNICO:Centro de referencia de atención terciariaPACIENTES:Se identificaron pacientes que se sometieron a proctocolectomía restauradora entre 1980 y 1994. Se incluyeron aquellos con ≥20 años de seguimiento en persona.PRINCIPALES MEDIDAS DE VALORACIÓN:Se analizaron la función, inflamación, tasas de falla del reservorio y estenosis anal.RESULTADOS:Un total de 203 pacientes tuvieron ≥20 años de seguimiento. De ellos, 71 tenían ≥30 años de seguimiento. Los diagnósticos iniciales incluyeron colitis ulcerosa (83%), colitis indeterminada (9%), poliposis adenomatosa familiar (4%) y enfermedad de Crohn (3%). El 21% de las personas con colitis ulcerosa o indeterminada pasaron posteriormente a la enfermedad de Crohn. La frecuencia promedio de las deposiciones diarias fue de 7 (rango intercuartil 6-8), el 38% experimentó filtración, el 31% tuvo estenosis anal, el 47% experimentó pouchitis y el 18% tuvo falla del reservorio. Con el tiempo, la frecuencia de las deposiciones aumentó en el 41% de los pacientes, se mantuvo igual en el 43% y disminuyó en el 16%. Los pacientes mayores de 50 años en el momento de la construcción tenían más evacuaciones intestinales diarias (media 8 vs 6, p = 0,02) y más filtraciones (77% vs 35%, p = 0,005) que los menores de 50 años. Los pacientes con enfermedad de Crohn tenían mayor frecuencia de deposiciones (media 8 vs 6, p < 0,001) y tasas más altas de estenosis anal (44% vs 26%, p = 0,02), inflamacion (70% vs 40%, p <0,001) y falla del reservorio (38% frente a 12%, p <0,001) en comparación con pacientes que tenian enfermedad de Crohn. Los pacientes con ≥30 años de seguimiento tuvieron una función similar a aquellos con 20-30 años de seguimiento.LIMITACIONES:Este fue un estudio retrospectivo de una sola institución. Solo el 35% de los reservorios creados durante el período de estudio tuvieron más de 20 años de seguimiento.CONCLUSIONES:La mayoría de los pacientes mantienen una función razonablemente buena y conservan el reservorio después de 20 años. Con el tiempo, la frecuencia de las deposiciones y la filtración aumentan. La vejez y la enfermedad de Crohn se asocian con peores resultados. Consulte Video Resumen en http://links.lww.com/DCR/B801. (Traducción - Dr. Ingrid Melo).

Distinct Disease Phenotype of Ulcerative Colitis in Patients With Coincident Primary Sclerosing Cholangitis: Evidence From a Large Retrospective Study With Matched Cohorts.

Primary sclerosing cholangitis is a classical extraintestinal manifestation in patients with ulcerative colitis. However, the impact of primary sclerosing cholangitis on the disease course is incompletely understood. This study aimed to assess the impact of primary sclerosing cholangitis on disease phenotype and its course in patients with ulcerative colitis. This is a retrospective study with 3:1 matched cohorts. Tertiary care center's electronic database was used for data analysis from 2000 and 2018. Of 782 patients with ulcerative colitis, 77 patients who had coincident primary sclerosing cholangitis were included. The primary outcomes evaluated were disease characteristics including colonic disease activity, temporal change of disease course, colorectal neoplasia, and colectomy rates. Disease activity during acute flares, assessed by the complete Mayo score, was significantly lower in patients with primary sclerosing cholangitis (6.2 vs 7.3; p < 0.001). In addition, disease activity in patients with primary sclerosing cholangitis was decreased, especially within the first 10 years after disease onset, and biological therapy with anti-tumor necrosis factor and anti-integrin agents was commenced less frequently (22% vs 35%; p = 0.043) and later (10-year risk: 17.4% vs 27.8%; p = 0.034). Patients with primary sclerosing cholangitis were younger at colitis diagnosis (23.3 vs 29.3 years; p < 0.001) and had more extensive disease (75% vs 46%; p < 0.001). Colorectal cancer was more frequently detected in patients with coincident primary sclerosing cholangitis (6/77 vs 16/705; p = 0.016). Colectomy rates did not differ between both groups (14.3% vs 14.5%; p = 0.56). In contrast, patients with ulcerative colitis had to undergo surgery more frequently because of therapy-refractant inflammation, whereas surgery due to neoplasia development was increased in patients with coincident primary sclerosing cholangitis (p = 0.013). The study was limited by its retrospective design. Patients who have ulcerative colitis with coincident primary sclerosing cholangitis develop a distinct disease course characterized by an earlier disease onset and lower disease activity, but more frequent extensive disease manifestation and higher risk for colorectal cancer. See Video Abstract at http://links.lww.com/DCR/B45. FENOTIPO DE ENFERMEDAD DISTINTIVO DE LA COLITIS ULCERATIVA EN PACIENTES CON COLANGITIS ESCLEROSANTE PRIMARIA CONCOMITANTE: EVIDENCIA DE UN ESTUDIO RETROSPECTIVO GRANDE CON COHORTES EMPAREJADAS: La colangitis esclerosante primaria es una manifestación extraintestinal clásica en pacientes con colitis ulcerativa. Sin embargo, el impacto de la colangitis esclerosante primaria en el curso de la enfermedad no es comprendido completamente.Evaluar el impacto de la colangitis esclerosante primaria en el fenotipo y curso de la enfermedad en pacientes con colitis ulcerativa.Este es un estudio retrospectivo con cohortes emparejadas 3:1.La base de datos electrónica de un centro de atención terciaria se utilizó para el análisis de datos de 2000 a 2018.782 pacientes con colitis ulcerativa, 77 padecían colangitis esclerosante primaria concomitante y fueron incluidos.Se evaluaron las características de la enfermedad, incluida la actividad de enfermedad colónica, el cambio temporal del curso de la enfermedad, la neoplasia colorrectal y las tasas de colectomía.La actividad de la enfermedad durante los brotes agudos, evaluada por la puntuación completa de Mayo, fue significativamente menor en pacientes con colangitis esclerosante primaria (6.2 vs 7.3; p < 0.001). Además, la actividad de la enfermedad en pacientes con colangitis esclerosante primaria se redujo especialmente en los primeros 10 años después del inicio de la enfermedad, y la terapia biológica con agentes anti-TNF y anti-integrina se inició con menos frecuencia (22% vs 35%; p = 0.043) y más tarde (riesgo a 10 años: 17.4% vs 27.8%; p = 0.034). Los pacientes con colangitis esclerosante primaria eran más jóvenes en el momento del diagnóstico de colitis (23.3 vs 29.3 años; p < 0.001) y tenían enfermedad más extensa (75% vs 46%; p < 0.001). El cáncer colorrectal se detectó con mayor frecuencia en pacientes con colangitis esclerosante primaria concomitante (6/77 vs 16/705; p = 0.016). Las tasas de colectomía no fueron diferentes entre ambos grupos (14.3% vs 14.5%; p = 0.56). En contraste, los pacientes con colitis ulcerativa tuvieron que someterse a cirugía con mayor frecuencia debido a inflamación refractaria a la terapia, mientras que el desarrollo de neoplasia se incrementó en pacientes con colangitis esclerosante primaria concomitante (p = 0.013).El estudio estuvo limitado por su diseño retrospectivo.Los pacientes con colitis ulcerativa con colangitis esclerosante primaria concomitante desarrollan un curso de enfermedad distintivo caracterizado por un inicio temprano de la enfermedad y una menor actividad de la enfermedad, pero con manifestación de enfermedad extensa más frecuente y un mayor riesgo de cáncer colorrectal. Vea el resumen en video en http://links.lww.com/DCR/B45.

[Diagnosis of Parkinson's disease].

Presently article carried out an up-to-date revision of the literature on the diagnosis of the Parkinson's disease, considering the clinical aspects, those of neuroradiology and the genetic diagnosis. The Parkinson's disease is the second most common neurodegenerative disorder and despite of the important development that has taken place in the last years as much in molecular genetics and neuroradiology, the diagnosis of this disease continuous being eminently clinical, the appropriate knowledge of the calls 'cardinal signs' and its application in the diagnosis increases the possibility that this it is guessed right, regrettably the definitive approach is only obtained in the autopsy. The genetic studies and of neuroradiology mainly are presented as tools for a more reliable differential diagnosis with other parkinsonism forms and the knowledge of these techniques can be useful in the taking of therapeutic decisions or of the affected patient's integral treatment. They have also been different monogenic forms in origin to the sporadic form of the illness. The knowledge and search of the preponderant clinical signs increases the capacity of diagnostic of the illness, in the same way the appropriate use of additional methods of investigation, mainly in the differential diagnosis.

High Risk of Proximal and Local Neoplasms in 2206 Patients With Anogenital Extramammary Paget's Disease.

Extramammary Paget's disease is an uncommon intraepidermal adenocarcinoma with poorly defined clinical implications. The purpose of this research was to estimate the risk of second primary neoplasms in patients with extramammary Paget's disease. This was a retrospective analysis of the Surveillance, Epidemiology, and End Results Registry (1973-2014). The study included population-based cancer registries from the United States. Patients who were diagnosed with anogenital Paget's disease were included. Risk of second primary development was measured. We identified 108 patients with anal Paget's disease, 421 patients with male genital (scrotum or penis) Paget's, and 1677 patients with female genital (vagina or vulva) Paget's. Median follow-up time was 5.9 years. The risk of developing colorectal adenocarcinoma was 18.5% for patients with anal Paget's disease. Eighty percent of colorectal adenocarcinoma diagnoses were synchronous (within 2 mo) to anal Paget's diagnoses, whereas metachronous tumors occurred at a median time of 2.4 years. Of patients with anal Paget's disease, 8.3% developed an anal adenocarcinoma or nonsmall cell cancer. In male patients with genital Paget's, the risk of proximal genitourinary malignancy was 9.7%, scrotal or testicular adenocarcinoma was 0.4%, and penile or scrotal squamous carcinoma was 1.7%. In female patients with genital Paget's, the risk of proximal genitourinary malignancy was 3.0%, vaginal or vulvar adenocarcinoma was 1.4%, and vaginal or vulvar squamous neoplasm was 1.0%. Five-year overall survival was 59.7%, 73.5%, and 80.7% in patients with anal, male genital, and female genital Paget's (p < 0.001). The registry did not record surveillance schedule, provider specialty, or nonprocedural therapies for extramammary Paget's disease. In the largest published cohort of patients with extramammary Paget's disease, patients with anal Paget's had a much higher risk of both proximal and local neoplasms as compared with patients with genital Paget's. Patients with anal Paget's also experienced worse survival as compared with those with purely genital Paget's. See Video Abstract at http://links.lww.com/DCR/B20. ALTO RIESGO DE NEOPLASIAS PROXIMALES Y LOCALES EN 2206 PACIENTES CON ENFERMEDAD DE PAGET EXTRAMAMARIA ANOGENITAL:: La enfermedad de Paget extramamaria es un adenocarcinoma intraepidérmico poco frecuente con implicaciones clínicas poco definidas.Estimar el riesgo de segundas neoplasias primarias en pacientes con enfermedad de Paget extramamaria.Análisis retrospectivo del Registro de Vigilancia, Epidemiología y Resultados Finales (1973-2014).Registros de base poblacional en cáncer de los Estados Unidos.Pacientes que fueron diagnosticados con enfermedad de Paget anogenital.Riesgo de desarrollo un cáncer primario adicional.Se identificaron 108 pacientes con Paget anal, 421 pacientes con Paget genital masculino (escroto o pene) y 1677 pacientes con Paget genital femenino (vagina o vulva). Tiempo mediano de seguimiento fue de 5,9 años. El riesgo de desarrollar adenocarcinoma colorrectal fue del 18,5% para los pacientes con Paget anal. El ochenta por ciento de los diagnósticos de adenocarcinoma colorrectal fueron sincrónicos (dentro de los 2 meses) a los diagnósticos de Paget anal, mientras que los tumores metacrónicos ocurrieron en un tiempo promedio de 2,4 años. De los pacientes con Paget anal, el 8.3% desarrolló un adenocarcinoma anal o cáncer de células no pequeñas. En los pacientes masculinos con Paget genital, el riesgo de malignidad genitourinaria proximal fue del 9,7%, el adenocarcinoma escrotal o testicular fue del 0,4% y el carcinoma escamoso del pene o escroto fue del 1,7%. En pacientes femeninas con Paget genital, el riesgo de malignidad genitourinaria proximal fue de 3.0%, el adenocarcinoma vaginal o vulvar fue de 1.4% y la neoplasia escamosa vaginal o vulvar fue de 1.0%. La supervivencia general a cinco años fue del 59.7%, 73.5% y 80.7% en pacientes con anal, genital masculino y genital femenino, respectivamente (p <0.001).El registro no señalo el cronograma de vigilancia, la especialidad del proveedor o las terapias sin procedimiento para la enfermedad de Paget extramamaria.En la cohorte más grande publicada de pacientes con enfermedad de Paget extramamaria, los pacientes con Paget anal demostraron un riesgo mucho mayor de neoplasias proximales y locales en comparación con los pacientes con Paget genital. Los pacientes con Paget anal además demostraron una peor supervivencia en comparación con aquellos con Paget aislada genital. Vea el Resumen del Video en http://links.lww.com/DCR/B20.

[Breve recorrido histórico de la enfermedad de Parkinson a 200 años de su descripción].

The original description of what currently is known as Parkinson's disease was published 200 years ago. During both these centuries, knowledge on symptomatology, pathophysiology, genetics and pharmaceutical and surgical treatment has significantly increased; however, this nosological entity continues to be of imprecise origin and progressive evolution. In the present review, the historical events that contributed to describe and improve the understanding of this disease are summarized.

[Dolor óseo generalizado e hipercalcemia en un lactante mayor como síntoma inicial de linfoma linfoblástico de células B].

Introducción: Los linfomas no Hodgkin son neoplasias heterogéneas derivadas de las células linfohematopoyéticas. Es raro que se presenten antes de los 2 años de edad y la prevalencia es mayor en el sexo masculino. Caso clínico: Paciente de sexo masculino de 1 año y 11 meses que debutó con dolor en miembros inferiores y superiores, claudicación intermitente, deformidad ósea e hipotonía generalizada, por lo que se sospechaba artritis juvenil. Se trató con antiinflamatorios no esteroideos. Al no haber mejoría, ingresó a otro hospital con adenopatías y nodulaciones en la región escrotal y braquial, y hepatomegalia, por lo que se presumió la activación precoz de la pubertad con evidencia de hipercalcemia. Los estudios radiológicos indicaron una posible displasia ósea. Sin embargo, la tomografía por emisión de positrones detectó zonas compatibles con un proceso maligno. Se diagnosticó linfoma de precursores B. La hipercalcemia es una alteración metabólica que, en presencia de cáncer, se considera un síndrome paraneoplásico. Es un dato clínico excepcional que se puede observar en niños con leucemia linfoblástica aguda. Conclusiones: El dolor óseo en la edad pediátrica amerita una exploración física minuciosa para realizar un diagnóstico oportuno del cáncer infantil y mejorar el pronóstico del paciente.

[Extrapyramidal signs in Alzheimer's disease].

Extrapyramidal signs were assessed in 112 patients satisfying NINCDS/ADRDA criteria for probable Alzheimer's disease. They were present in 50% of the patients. The most common features of them were bradykinesia and rigidity. Resting tremor was rarely encountered. There were no significant differences in age of onset, symptom duration, presence of primitive reflexes and psychotic symptoms between cases with and without extrapyramidal signs, while the presence of extrapyramidal signs was associated with statistically significant greater dementia severity.

Cost-Effectiveness of Extended Thromboprophylaxis in Patients Undergoing Colorectal Surgery from a Canadian Health Care System Perspective.

There is increasing evidence to support extended thromboprophylaxis after colorectal surgery to minimize the incidence of postdischarge venous thromboembolic events. However, the absolute number of events is small, and extended thromboprophylaxis requires significant resources from the health care system. This study aimed to determine the cost-effectiveness of extended thromboprophylaxis in patients undergoing colorectal surgery for malignancy or IBD. An individualized patient microsimulation model (1,000,000 patients; 1-month cycle length) comparing extended thromboprophylaxis (28-day course of enoxaparin) to standard management (inpatient administration only) after colorectal surgery was constructed. The sources for this study were The American College of Surgeons National Surgical Quality Improvement Project Participant User File and literature searches. Costs (Canadian dollars), quality-adjusted life-years, and venous thromboembolism-related deaths prevented over a 1-year time horizon starting with hospital discharge were determined. The results were stratified by malignancy or IBD. In patients with malignancy, extended prophylaxis was associated with higher costs (+113$; 95% CI, 102-123), but increased quality-adjusted life-years (+0.05; 95% CI, 0.04-0.06), resulting in an incremental cost-effectiveness ratio of 2473$/quality-adjusted life-year. For IBD, extended prophylaxis also had higher costs (+116$; 95% CI, 109-123), more quality-adjusted life-years (+0.05; 95% CI, 0.04-0.06), and an incremental cost-effectiveness ratio of 2475$/quality-adjusted life-year. Extended prophylaxis prevented 16 (95% CI, 4-27) venous thromboembolism-related deaths per 100,000 patients and 22 (95% CI, 6-38) for malignancy and IBD. There was a 99.7% probability of cost-effectiveness at a willingness-to-pay threshold of 50,000$/quality-adjusted life-year. To account for statistical uncertainty around variables, sensitivity analysis was performed and found that extended prophylaxis is associated with lower overall costs when the incidence of postdischarge venous thromboembolic events reaches 1.8%. Significant differences in health care systems may affect the generalizability of our results. Despite the rarity of venous thromboembolic events, extended thromboprophylaxis is a cost-effective strategy. See Video Abstract at http://links.lww.com/DCR/A976. COSTO-EFECTIVIDAD DE LA TROMBOPROFILAXIS EXTENDIDA EN PACIENTES SOMETIDOS A CIRUGÍA COLORRECTAL DESDE UNA PERSPECTIVA DEL SISTEMA DE SALUD CANADIENSE:: Cada vez hay más pruebas que apoyen la tromboprofilaxis extendida después de la cirugía colorrectal para minimizar la incidencia de eventos tromboembólicos venosos después del alta hospitalaria. Sin embargo, el número absoluto de eventos es pequeño y la tromboprofilaxis extendida requiere recursos significativos del sistema médico.Determinar la rentabilidad (relación costo-efectividad) de la tromboprofilaxis extendida en pacientes sometidos a cirugía colorrectal por neoplasia maligna o enfermedad inflamatoria intestinal.Un modelo de microsimulación de paciente individualizado (1,000,000 de pacientes; ciclo de 1 mes) que compara la tromboprofilaxis extendida (curso de enoxaparina de 28 días) con el tratamiento estándar (solo para pacientes hospitalizados) después de la cirugía colorrectal.Archivo de usuario participante del Proyecto de Mejoramiento de la Calidad Quirúrgica del Colegio Nacional de Cirujanos Americanos (ACS-NSQIP) y búsquedas bibliográficas.Costos (en dólares Canadienses), años de vida ajustados por la calidad y muertes relacionadas con el tromboembolismo venoso prevenidas en un horizonte temporal de 1 año a partir del alta hospitalaria. Los resultados fueron estratificados por malignidad o enfermedad inflamatoria intestinal.En pacientes con neoplasias malignas, la profilaxis extendida se asoció con costos más altos (+113 $; IC del 95%, 102-123), pero con un aumento de la calidad de vida ajustada por años de vida (+0.05; IC del 95%, 0.04-0.06), lo que resultó en un incremento de relación costo-efectividad de 2473 $/año de vida ajustado por calidad. Para la enfermedad inflamatoria intestinal, la profilaxis extendida también tuvo costos más altos (+116 $; 95% IC, 109-123), más años de vida ajustados por calidad (+0.05; 95% IC, 0.04-0.06) y una relación costo-efectividad incremental de 2475 $/año de vida ajustado por calidad. La profilaxis prolongada evitó 16 (95% IC, 4-27) muertes relacionadas con tromboembolismo venoso por cada 100,000 pacientes y 22 (95% IC, 6-38) por malignidad y enfermedad inflamatoria intestinal, respectivamente. Hubo un 99.7% de probabilidad de costo-efectividad en un límite de disposición a pagar de 50,000 $/año de vida ajustado por calidad. Para tener en cuenta la incertidumbre estadística en torno a los variables, se realizó un análisis de sensibilidad y se encontró que la profilaxis extendida se asocia con menores costos generales cuando la incidencia de eventos tromboembólicos venosos después del alta hospitalaria alcanza 1.8%.Las diferencias significativas en los sistemas de salud pueden afectar la generalización de nuestros resultados.A pesar de la escasez de eventos tromboembólicos venosos, la tromboprofilaxis extendida es una estrategia rentable. Vea el video del resumen en http://links.lww.com/DCR/A976.

[Parkinson's disease as seen by a patient with this disease].

The idea of writing this paper stemmed from the interest shown by Dr Francisco Javier Jiménez-Jiménez in giving a firsthand description of the experiences of a patient suffering from Parkinson's disease, as a complement to the scientific view. The author is not a member of the medical profession. This study is based on the analysis of the disease as seen by the person actually suffering from it. From this biography we analyze the possible causes that could have exerted an influence on the development of the disease, and the physical causes are also outlined. We analyze the drugs that are administered as therapy and we establish the relations that exist between the symptoms presented by the author and the possible deterioration of the governing centres of the brain which should control them but, due to the degeneration brought about by the disease, do not. The effects produced by the medication are studied and we also describe how help can be obtained from the outside by employing other types of medicine that are not strictly allopathic. In the final part of the paper the relations between the patient and the people around them are discussed. It becomes clear that there is a void in our knowledge about this disease due to our not knowing what exactly causes it. This means that therapies are directed towards palliating the symptoms rather than fighting the causes. Something that must be highlighted is the important role played by the patient's will to fight against the disease.

Rectal Cancer Risk and Survival After Total Colectomy for IBD: A Population-Based Study.

Patients undergoing total colectomy for IBD may develop cancer in the rectal remnant, but the association is poorly understood. This study aimed to examine the risk and prognosis of rectal cancer after total colectomy for IBD. This is a nationwide population-based study. Treatment of the patients took place in Denmark from 1977 to 2013. Patients with IBD undergoing total colectomy were included. We examined the incidence of rectal cancer among patients with IBD and total colectomy and compared cancer stage to that of other patients with rectal cancer in Denmark. We used Kaplan-Meier methodology to estimate survival and Cox regression to estimate adjusted mortality rate ratios following a rectal cancer diagnosis, comparing patients with and without IBD and a rectal remnant. We identified 4703 patients with IBD (1026 Crohn's disease; 3677 ulcerative colitis) who underwent total colectomy with a rectal remnant. During 29,725 years of follow-up, 30 rectal cancers were observed, compared with 8 rectal cancers expected (standardized incidence ratio = 3.6 (95% CI, 2.4-5.1)). Cancer stage distributions were similar. Risk of rectal cancer 35 years after total colectomy was 1.9% (95% CI, 1.1%-2.9%). Five years after rectal cancer diagnosis, survival was 28% (95% CI, 12%-47%) and 38% (95% CI, 37%-38%) for patients with and without IBD and a rectal remnant. The adjusted mortality rate ratio 1 to 5 years after a rectal cancer diagnosis was 2.5 (95% CI, 1.6-3.9). Median time from last recorded nondiagnostic proctoscopy to rectal cancer diagnosis for patients with IBD and total colectomy was 1.1 years. This study was limited by the few outcomes and the use of administrative and not clinical data. Long-term risk of rectal cancer following total colectomy for IBD was low. Survival following a diagnosis of rectal cancer was poorer for patients with IBD and total colectomy than for patients who had rectal cancer without IBD and total colectomy. Endoscopic surveillance, as it appeared to be practiced in this cohort, may be inadequate. See Video Abstract at http://links.lww.com/DCR/B497. RIESGO DE CÁNCER DE RECTO Y SUPERVIVENCIA DESPUÉS DE UNA COLECTOMÍA TOTAL POR ENFERMEDAD INFLAMATORIA INTESTINAL: UN ESTUDIO POBLACIONAL: Los pacientes sometidos a colectomía total por enfermedad inflamatoria intestinal (EII) pueden desarrollar cáncer en el remanente rectal, pero la asociación es poco conocida.Examinar el riesgo y el pronóstico del cáncer de recto después de una colectomía total para la EII.Estudio poblacional a nivel nacional.Dinamarca 1977-2013.Pacientes con EII sometidos a colectomía total.Examinamos la incidencia de cáncer de recto entre pacientes con EII y colectomía total y comparamos el estadio del cáncer con el de otros pacientes con cáncer de recto en Dinamarca. Utilizamos la metodología de Kaplan-Meier para estimar la supervivencia y la regresión de Cox para estimar las tasas de mortalidad ajustadas (aMRR) después de un diagnóstico de cáncer de recto, comparando pacientes con y sin EII y un remanente rectal.Identificamos 4.703 pacientes con EII (1.026 enfermedad de Crohn; 3.677 colitis ulcerosa) que se sometieron a colectomía total con remanente rectal. Durante 29,725 años de seguimiento, se observaron 30 cánceres de recto, en comparación con los 8 esperados [razón de incidencia estandarizada (SIR) = 3.6, (intervalo de confianza (IC) del 95%: 2.4-5.1)]. Las distribuciones de las etapas del cáncer fueron similares. El riesgo de cáncer de recto 35 años después de la colectomía total fue del 1,9% (IC del 95%: 1,1% -2,9%). Cinco años después del diagnóstico de cáncer de recto, la supervivencia fue del 28% (IC del 95%: 12% -47%) y del 38% (IC del 95%: 37% -38%) para los pacientes con y sin EII y un remanente rectal, respectivamente. La aMRR 1-5 años después de un diagnóstico de cáncer de recto fue de 2,5 (IC del 95%: 1,6-3,9). La mediana de tiempo desde la última proctoscopia no diagnóstica registrada hasta el diagnóstico de cáncer de recto en pacientes con EII y colectomía total fue de 1,1 años.Pocos resultados, uso de datos administrativos y no clínicos.El riesgo a largo plazo de cáncer de recto después de una colectomía total para la EII fue bajo. La supervivencia después de un diagnóstico de cáncer de recto fue más pobre para los pacientes con EII y colectomía total que para los pacientes con cáncer de recto sin EII y colectomía total. La vigilancia endoscópica, como parecía practicarse en esta cohorte, puede ser inadecuada. Consulte Video Resumen en http://links.lww.com/DCR/B497. (Traducción-Dr. Adrian Ortega).

[Natural history of Huntington's chorea].

The scope of the work is to list and analyse, after a historical introduction on the subject, the principle clinical characteristics of "Huntington's Disease". The epidemiological aspects, those clinical-semeiotical, the course of the disease and the type of after affects of Huntington's Diseases are examined. The more significant details of the natural history of the chorea maior, as emerge from the literature, are compared with those that result from the study of the thirty cases of this chronic disease. In particular the following are analysed, the genetic aspects, the character of the psycho-organic deterioration of the chronic chorea, the psychiatric component and various clinical-semeiotical formalities, how the disease begins, its course, its duration, etc. The authors conclude pointing out the particular character of the dementia of Huntington's Disease, (of the pre-frontal type), the strong psychopathological incidence and the particular formalities of hereditary transmission of the mendelian type of this singular disease.

Crohn's Disease after Proctocolectomy and IPAA for Ulcerative Colitis.

Proctocolectomy with IPAA is considered curative for ulcerative colitis. However, signs of Crohn's disease can develop postoperatively in some cases. Our aim was to document the postoperative diagnosis of Crohn's disease, to identify potential preoperative predictive factors, and to review the evolution of patients on treatment. This is a retrospective cohort study. This study was conducted at a tertiary care center in Montreal, Canada. A total of 301 patients underwent an IPAA for ulcerative colitis between 1985 and 2014. The primary outcome was the cumulative incidence of the postoperative diagnosis of Crohn's disease. During a median follow-up of 68 months, Crohn's disease was diagnosed at a median time of 77 months (8-270) in 38 patients (12.6%). The cumulative incidence of Crohn's disease was 7.5% at 5 years postoperatively and gradually increased to 17.7% and 33.0% at 10 and 20 years. The following predictive factors for Crohn's disease were observed on univariate analysis: current tobacco smoking at surgery (HR 3.56 (95% CI, 1.54-8.22)), suspicion of indeterminate colitis (HR 3.50 (95% CI, 1.69-7.24)), presence of mouth ulcers before surgery (HR 2.16 (95% CI, 1.03-4.53)), and age at diagnosis of ulcerative colitis (HR 0.94 (95% CI, 0.90-0.97)). Suspicion of indeterminate colitis (HR 3.18 (95% CI 1.46-6.93); p = 0.004) and age at diagnosis (HR 0.95 (95% CI, 0.91-0.99); p = 0.018) remained statistically significant on multivariate analysis. Postoperative inflammatory disease was controlled by medical therapy in most patients. Removal of the pouch was necessary in 16% of patients with Crohn's disease. This was a retrospective single-center study. Diagnosis of Crohn's disease can occur at a distance from surgery with an increasing cumulative incidence over time. Preoperative predictive factors are few and should not determine candidacy for surgery. Therapeutic options are identical to those available for treatment of typical Crohn's disease and allow a favorable evolution in most patients. See Video Abstract at http://links.lww.com/DCR/B372. ANTECEDENTES:La proctocolectomía con reservorio ileo-anal se considera curativa para la colitis ulcerosa. Sin embargo, signos de enfermedad de Crohn pueden desarrollarse después de la operación en algunos casos.OBJETIVO:Nuestro objetivo fue documentar el diagnóstico postoperatorio de la enfermedad de Crohn, identificar posibles factores predictivos preoperatorios y revisar la evolución de los pacientes con tratamiento.DISEÑO:Estudio retrospectivo de cohortes.AJUSTES:Centro de atención terciaria en Montreal, Canadá.PACIENTES:301 pacientes portadores de un reservorio íleo-anal realizados por colitis ulcerosa entre 1985 y 2014.PRINCIPALES MEDIDAS DE RESULTADO:Acumulación de la incidencia en el diagnóstico postoperatorio de enfermedad de Crohn.RESULTADOS:Durante una media de 68 meses de seguimiento, la enfermedad de Crohn fué diagnosticada en un tiempo medio de 77 meses (8-270) en 38 pacientes (12,6%). La acumulación de incidencia de la enfermedad de Crohn fue del 7,5% a los 5 años después de la operación y aumentó gradualmente a 17,7 y 33,0% a los 10 y 20 años. Los siguientes factores predictivos para la enfermedad de Crohn se observaron en el análisis univariado: tabaquismo activo al momento de la cirugía (cociente de riesgo (HR) 3.56 (intervalo de confianza del 95% (IC) 1.54-8.22)), sospecha de colitis indeterminada (HR 3.50 (IC del 95% 1.69-7.24)), presencia de úlceras en la boca antes de la cirugía (HR 2.16 (IC 95% 1.03-4.53)) y edad al diagnóstico de colitis ulcerosa (HR 0.94 (IC 95% 0.90-0.97)). La sospecha de colitis indeterminada (HR 3.18 (IC 95% 1.46-6.93), p = 0.004) y la edad al momento del diagnóstico (HR 0.95 (IC 95% 0.91-0.99), p = 0.018) permanecieron estadísticamente significativos en el análisis multivariado. La reacción inflamatoria intestinal postoperatoria fue controlada con tratamiento médico en la mayoría de los pacientes. El retiro del reservorio íleo-anal fue necesario en 16% de los pacientes con enfermedad de Crohn.LIMITACIONES:Estudio retrospectivo de centro único.CONCLUSIONES:El diagnóstico de la enfermedad de Crohn puede ocurrir a distancia de la cirugía con la acumulación de incidencia creciente con el tiempo. Los factores predictivos preo-peratorios son pocos y no pueden determinar la candidatura para la cirugía. Las opciones terapéuticas son idénticas a las disponibles para el tratamiento de la enfermedad de Crohn típica y permiten una evolución favorable en la mayoría de los pacientes. Consulte Video Resumen en http://links.lww.com/DCR/B372. (Traducción-Dr. Xavier Delgadillo).

[Clinical variants of Alzheimer disease].

The heterogeneity and variants of Alzheimer disease (AD) are reviewed. There are cases with a slow or fast evolution and with early or late onset. Most cases are sporadic but there are also hereditary forms. About 50% of patients show neuropsychiatric disorders (depression and psychoses). Some cases have a greater deficit of right or left hemispheric functions. Among the variants, there are forms that start as pure aphasias, predominantly prefrontal cases and posterior cortical forms. Occasionally AD may simulate other disorders such as supranuclear palsy, corticobasal ganglionar degeneration and Jacob-Creutzfeldt disease. Finally, there are mixed forms, in which AD is associated with cerebrovascular disease (very commonly) and with other diseases such as dementia with Lewy bodies. We conclude that AD is a heterogeneous disorder and, therefore, clinical diagnosis may be insufficient. Biological markers and specific imaging studies are needed for a correct clinical diagnosis.

[Neumatosis quística intestinal: reporte de un caso].

La neumatosis quística intestinal es una condición infrecuente, caracterizada por la formación de quistes de contenido gaseoso debajo de la mucosa y la serosa intestinales. Mujer de 84 años, con antecedente de artritis reumatoide en tratamiento inmunosupresor, intervenida hace 2 años por neumoperitoneo, con diagnóstico de diverticulosis yeyunal y enfisema mesentérico, acude con cuadro de dolor abdominal difuso de 2 días de evolución, sin otra sintomatología. En la radiografía de abdomen se observa neumoperitoneo con elevación del hemidiafragma derecho y distensión de asas del intestino delgado. Ante la sospecha de perforación de víscera hueca se decide intervención quirúrgica, en la cual se diagnostica a la paciente de neumatosis quística intestinal. La neumatosis quística intestinal es de causa desconocida, aunque en un elevado porcentaje de pacientes se ha visto asociada a enfermedades pulmonares obstructivas, enfermedades del tejido conectivo, inmunosupresión o enfermedades gastrointestinales. Se localiza más frecuentemente en el colon y el intestino delgado. Se diagnostica principalmente mediante pruebas de imagen (radiografía o tomografía computarizada). El tratamiento es conservador, realizándose intervención quirúrgica si existe sospecha de necrosis intestinal. Es difícil el diagnóstico diferencial con un neumoperitoneo por perforación de víscera hueca. Pneumatosis cystoides intestinalis is an infrequent condition, characterized by the formation of gaseous content cysts under the mucosa and intestinal serous. 84-year-old woman, with a history of rheumatoid arthritis under immunosuppressive treatment, operated 2 years ago by pneumoperitoneum, where she was diagnosed of jejunal diverticulosis and mesenteric emphysema, with diffuse abdominal pain of 2 days of evolution, without other symptoms. In abdominal radiography: pneumoperitoneum with elevation of right hemidiaphragm and distention of small intestine. Given the suspicion of perforation of the intestinal wall, surgical intervention was decided, in which the patient was diagnosed with pneumatosis cystoides intestinalis. Pneumatosis cystoides intestinalis has an unknown etiology, although in a high percentage of patients it has been associated with obstructive pulmonary pathologies, connective tissue diseases, immunosuppression or gastrointestinal diseases. It is located more frequently in the colon and small intestine. It is diagnosed mainly through imaging tests (radiography or computed tomography). The treatment is conservative, performing surgical intervention if there is suspicion of intestinal necrosis; being difficult the differential diagnosis with a pneumoperitoneum by perforation of hollow viscera..

[Comparison study of executive functions in Parkinson's disease and degenerative cerebellar disease's patients].

To compare executive functions (EF) in non-demented mild to moderate Parkinson's disease (PD) (Hoehn and Yahr < or =3) and pure degenerative cerebellar disease (CD) in order to evaluate the relative contribution and differential role of basal ganglia and cerebellum in those functions. 14 patients with PD and 14 patients with CD matched by sex, education, disease's duration and MMSE were selected. A standardized neuropsychological battery and the Wisconsin Card Sorting Test (WCST) were administered. Z scores were compared for both groups through t-test for independent samples were used. The cerebellar group showed significant lower performance in measures of attention and EF, with a significant increase in both perseverative and non perseverative errors during the WCST. On the other hand the PD group showed a selective increase of non perseverative errors, without reaching significant between group difference. The CD group appears to have greater deficits in EF with a pattern of prefrontal dysfunction.

Patient-Reported Work Ability During the First Two Years After Rectal Cancer Diagnosis.

Rectal cancer treatment is associated with substantial short- and longer-term morbidity that may affect patients' ability to work. We evaluated patient-reported work ability during the first 2 years after rectal cancer diagnosis, relative to the Dutch general population. Also, we assessed the association between clinical factors and work ability. This is a prospective cohort study. This study was conducted at the Radiation-Oncology Department of a tertiary center. Patients with rectal cancer, <67 years of age, and treated with curative intent were selected. Work ability was assessed with the Work Ability Index before the start of treatment (baseline) and at 3, 6, 12, 18, and 24 months after. The Work Ability Index scores of patients with paid employment were compared with the scores of matched population controls. Mixed models were used to estimate the impact of clinical factors on work ability. Of the 230 eligible patients, 172 (75%) had paid employment. Work ability decreased at 3 and 6 months compared with baseline. At 12 months, work ability recovered to baseline level but remained significantly lower than in population controls up to 24 months. Fifty-four percent reported 100 to 365 days of sick leave during the first 12 months of treatment versus 2% in the general population. At 24 months, 32% needed substantial adaptations in work activities, worked reduced hours, or were unable to work due to the disease versus 6% in the general population. Female sex, multiple comorbidities, oligometastatic disease, chemoradiation, and abdominoperineal resection were associated with lower work ability. The study was limited by a decrease in questionnaire response rate from 83% to 64% over time. Patient-reported work ability deteriorates during rectal cancer treatment. Within 24 months after diagnosis, work ability returns to pretreatment level but remains lower than that of the general population. See Video Abstract at http://links.lww.com/DCR/B175. CAPACIDAD DE TRABAJO REPORTADO POR PACIENTES DURANTE LOS PRIMEROS DOS AÑOS DESPUÉS DEL DIAGNÓSTICO DE CÁNCER RECTAL: El tratamiento del cáncer rectal se asocia con una morbilidad significante a corto y largo plazo que puede afectar la capacidad de trabajo de pacientes.Evaluamos la capacidad de trabajo reportado por pacientes durante los primeros dos años después del diagnóstico de cáncer rectal, en relación con la población general holandesa. Además, evaluamos la asociación entre los factores clínicos y capacidad para trabajar.Estudio de cohorte prospectivo.Este estudio se realizó en el Departamento de Radiación Oncológica de en un centro de referencia de tercer nivel.Se seleccionaron pacientes con cáncer rectal, <67 años de edad, y tratados con intención curativa.La capacidad de trabajo se evaluó con el índice de capacidad de trabajo antes del inicio del tratamiento (línea de base) y a los 3, 6, 12, 18 y 24 meses después. Los puntajes de capacidad laboral de los pacientes con empleo remunerado se compararon con los puntajes de los controles de población pareados. Se utilizaron modelos mixtos para estimar el impacto de los factores clínicos en la capacidad laboral.De los 230 pacientes elegibles, 172 (75%) tenían empleo remunerado. La capacidad de trabajo disminuyó a los 3 y 6 meses en comparación con la línea de base. A los 12 meses, la capacidad de trabajo se recuperó al nivel de referencia, pero se mantuvo significativamente más baja que en los controles de la población hasta 24 meses. Durante los primeros 12 meses, el 54% reportó 100-365 días de baja por enfermedad versus el 2% en la población general. A los 24 meses, el 32% necesitaba adaptaciones sustanciales en las actividades laborales, trabajó horas reducidas o no pudo trabajar debido a la enfermedad frente al 6% en la población general. El sexo femenino, las comorbilidades múltiples, la enfermedad oligometastásica, la quimiorradiación y la resección abdominoperineal se asociaron con una menor capacidad de trabajo.El estudio estuvo limitado por una disminución en la tasa de respuesta al cuestionario del 83% al 64% a lo largo plazo.La capacidad laboral informada por el paciente se deteriora durante el tratamiento del cáncer rectal. Dentro de los 24 meses posteriores al diagnóstico, la capacidad laboral vuelve al nivel de pretratamiento, pero sigue siendo inferior a la de la población general. Consulte Video Resumen en http://links.lww.com/DCR/B175. (Traducción-Dr. Adrian Ortega).

[Dementia in Parkinson's disease. Critical evaluation of the literature].

In the last 30 years, Parkinson's disease has been object of great progress. The majority of patients reaches a longer life with quality because of the modern therapeutic approach. However, dementia that can occur in the evolutive process, has its neuropathology not completely defined until now. There are lesions in the basal ganglia, in the ventral area of the mesencephalic tegmentum in the thalamus, in the substantia nigra and in the frontal cortex. The presence of Lewy bodies in the cortex is associated with dementia, in the same way that the anatomopathological features of Alzheimer's disease, in many cases. Dementia should have a multifactorial basis. Different types of neurotransmitters, like serotonin, acetylcholine and dopamine, or even hormones, like cortisol, may be altered in a great number of demented parkinsonians. Depression, found in up to 40% of patients, have been related as a risk factor for dementia, present approximately in 25% of cases. Studies in this area are still conflicting, with some confirming the relation among depression, cortical atrophy, hypercortisolemia and Parkinson's disease. Neuropsychologic studies show that the dementia in Parkinson's disease is of subcortical type. It is also known that parkinsonians, even those without cognitive deficiencies clinically significant, present deficits if submitted to more detailed neuropsychological tests. It is assumed, so, that cognitive impairments are intrinsic to the disease, varying its expression among patients. Dementia shall be diagnosed based on the criteria established in the diagnostic and statistical manual of mental disorders of the American Psychiatry Association, as well as computed tomography and magnetic resonance. For treatment, parkinsonian dementia does not recognize efficacious agents until now.

Adverse Oncologic Outcomes of Adenocarcinoma of the Anal Canal in Patients With Crohn's Disease.

Anal lesions in cases of Crohn's disease can give rise to adenocarcinoma of the anal canal; however, the oncologic outcomes in these patients have not yet been thoroughly investigated. This study aimed to clarify the influence of Crohn's disease on the oncologic outcomes in patients with adenocarcinoma of the anal canal. This was a retrospective observational study from a prospectively collected database. The study was conducted at a single institution. This study included 102 patients with adenocarcinoma of the anal canal, including 34 (33.3%) with Crohn's disease-associated lesions and 68 (66.7%) with non-Crohn's disease-associated lesions. Prognostic factors were detected using a Cox regression analysis, and the oncologic outcomes were calculated using the Kaplan-Meier method. Crohn's disease-associated patients were significantly younger (45 vs 62 y; p < 0.001), had a high incidence of external/anal gland-type disease (61.8% vs 5.9%, p < 0.001) and had large tumors (7.1 ± 3.0 vs 4.7 ± 2.3 cm; p = 0.03) in comparison with non-Crohn's disease-associated patients. A Cox regression analysis showed that an advanced clinical T stage (T3 or T4; tumor size ≥5 cm) was an independent risk factor for 5-year local recurrence-free survival (HR = 3.49; p = 0.04), disease-free survival (HR = 2.82; p = 0.008), and overall survival (HR = 2.92; p = 0.006), and Crohn's disease association was an independent prognostic factor for local recurrence-free survival (HR = 2.29; p = 0.04) and overall survival (HR = 2.86; p = 0.04). The oncologic outcomes of patients who had the 2 abovementioned negative factors (cT3,4 Crohn's disease-associated patients) were significantly poorer than those of T3,4 non-Crohn's disease-associated patients (5-year local recurrence-free survival: 32.5% vs 70.4%, p = 0.001; disease-free survival: 15.9% vs 40.7%, p = 0.04; overall survival: 25.8% vs 71.0%, p = 0.007). This was a single-arm, retrospective study. Significantly poorer oncologic outcomes were confirmed in Crohn's disease-associated patients with large tumors. Thus, it is important to perform careful surveillance of anal lesions in patients with Crohn's disease while taking these facts into consideration. See Video Abstract at http://links.lww.com/DCR/B449. ANTECEDENTES:Las lesiones anales en casos de enfermedad de Crohn pueden dar lugar a un adenocarcinoma del canal anal; sin embargo, los resultados oncológicos en estos pacientes aún no se han investigado a fondo.OBJETIVOS:Este estudio tuvo como objetivo aclarar la influencia de la enfermedad de Crohn en los resultados oncológicos en pacientes con adenocarcinoma del canal anal.DISEÑO:Estudio observacional retrospectivo de una base de datos recopilada prospectivamente.ENTORNO CLINICO:El estudio se realizó en una sola institución.PACIENTES:Este estudio incluyó 102 pacientes con adenocarcinoma del canal anal, incluidos 34 (33,3%) con lesiones asociadas a la enfermedad de Crohn y 68 (66,7%) con lesiones no asociadas a la enfermedad de Crohn.PRINCIPALES MEDIDAS DE VOLARACION:Los factores pronósticos se detectaron mediante un análisis de regresión de Cox y los resultados oncológicos se calcularon utilizando el método de Kaplan-Meier.RESULTADOS:Los pacientes asociados a la enfermedad de Crohn eran significativamente más jóvenes (45 versus a 62 años, p <0,001), tenían una alta incidencia de enfermedad de tipo glandular externo/ anal (61,8% versus a 5,9%, p <0,001) y tumores grandes (7,1 ± 3,0 cm versus a 4,7 ± 2,3 cm, p = 0,03) en comparación con los pacientes no asociados a la enfermedad de Crohn. Un análisis de regresión de Cox mostró que un estadío clínico T avanzado (T3,4; tamaño del tumor ≥5 cm) era un factor de riesgo independiente para la supervivencia sin recidiva local (SLF) a 5 años (índice de riesgo [HR]: 3,49, p = 0,04), supervivencia libre de enfermedad (SSE) (HR: 2,82, p = 0,008) y supervivencia general (SG) (HR: 2,92, p = 0,006), y la enfermedad de Crohn asociada fue un factor pronóstico independiente para la SLF (HR: 2,29, p = 0,04) y SG (HR: 2,86, p = 0,04). Los resultados oncológicos de los pacientes que tenían los dos factores negativos mencionados anteriormente (pacientes asociados con la enfermedad de Crohn cT3,4) fueron significativamente peores que los de los pacientes no asociados con la enfermedad de Crohn con T3,4 (LFS a 5 años: 32,5% versus a 70,4 %, p = 0,001; SSE: 15,9% versus a 40,7%, p = 0,04; SG: 25,8% versus a 71,0%, p = 0,007).LIMITACIONES:Un estudio retrospectivo de un solo brazo.CONCLUSIONES:Se confirmaron resultados oncológicos significativamente peores en pacientes asociados con la enfermedad de Crohn con tumores grandes. Por lo tanto, es importante realizar una vigilancia cuidadosa de las lesiones anales en pacientes con enfermedad de Crohn. Consulte Video Resumen en http://links.lww.com/DCR/B449.

[Aetiological analysis of 425 patients referred to an outpatient neurology service due to tremor or Parkinsonism].

Movement disorders are a common reason for visits to outpatient neurology departments. This study has two objectives. The first is to analyse the diagnoses of patients referred to the neurology service due to tremor or Parkinsonism. The second aim is to analyse whether such patients are referred from primary care correctly or incorrectly. The study examines patients referred from primary care to the neurology service in a medical specialty centre because of tremor or Parkinsonism. The final diagnoses established by the neurologist were analysed and patient referral was also analysed using a set of previously agreed criteria. The sample consisted of 425 consecutive patients who were referred from primary care due to tremor (n = 294) or Parkinsonism (n = 131). The most common diagnoses were Parkinson's disease (n = 211; 50%), essential tremor (n = 157; 37%) and pharmacological Parkinsonism (n = 23; 5%). Referral was considered to be incorrect in 39 patients and correct in 388 cases (91%). The causes of incorrect referrals were: pharmacological Parkinsonism (n = 23), anxiety that was not treated in primary care (n = 12) and hypothyroidism that went undiagnosed in primary care (n = 4). Parkinson's disease, essential tremor and pharmacological Parkinsonism are the most frequent diagnoses in patients who are referred from primary care because of tremor and Parkinsonism. Referral to a neurology service is correct in most cases, but there is still room for improvement.

Análisis de Costo de la Enfermedad, del Tratamiento, las Complicaciones e Intervenciones de la Hipercolesterolemia en México en 2016.

Describir los costos y el impacto económico de la atención de pacientes diagnosticados con hipercolesterolemia en México en el año 2016. METODOLOGíA: Se desarrolla una evaluación económica del tipo análisis de costo de la enfermedad donde se cuantifican los recursos médicos utilizados para el tratamiento de la hipercolesterolemia así como para sus complicaciones. Los costos de los recursos médicos utilizados son obtenidos de los costos unitarios por nivel de atención del Instituto Mexicano del Seguro Social (IMSS) así como de las licitaciones publicadas en el portal de compras del IMSS. El uso de recursos se obtiene mediante un panel de expertos y para el porcentaje de presencia de las complicaciones se efectúa una revisión de literatura. Los costos médicos directos son estimados multiplicando la frecuencia de uso por el costo unitario, agrupándolos y obteniendo así los costos individuales de cada recurso médico. Los casos de hipercolesterolemia en prevención secundaria con enfermedad coronaria y enfermedad cardiovascular representan un mayor costo promedio anual ($111,835.19, D.E. $84,276.37), seguido de la hipercolesterolemia en prevención secundaria con enfermedad coronaria sin enfermedad cardiovascular ($56,352.13, D.E. $29,004.04), los cuales no incluyen los costos generados por las complicaciones. El resto de los grupos de hipercolesterolemia representan una carga económica menor. La carga económica de la hipercolesterolemia representa en promedio por caso al año $258,761.37, esto traducido a los aproximadamente 445,075 de casos diagnosticados y tratados al año representaría un impacto económico en el sistema de salud de más de ciento quince mil millones ($115,168,331,355.11).

[A case of obsessive symptoms in Huntington's disease].

Recently, some authors have postulated the existence of the so-called <<obsessive spectrum>>. This would include disorders that have the common point of the presence of repetitive thoughts and actions, which may either have a <<compulsive>> or <<impulsive>> nature. Certain neurological disorders with repetitive movements have also been grouped within this spectrum, including some forms of epilepsy, Parkinson's disease, Sydenham's Chorea or Huntington's disease. There is evidence that physiopathological connections may exist between some of these conditions. A case of a patient with Huntington's Chorea with obsessive signs and symptoms is presented. The patient is a 50 year old male, diagnosed of Huntington's Chorea who is being treated with 25 mg/day of clozapine and 10 mg/day of clorazepate. The patient refused to eat certain foods for <<fear of choking>>. He began to display other obsessive behaviors such as refusing to touch objects that might have been touched by others, and developed ritual checking methods. Treatment based on the administration of 40 mg/day of paroxetine was begun. With this treatment the compulsive symptoms have disappeared, as has the fear of choking. However, the choreic movements typical of his condition persist and the signs and symptoms associated with a process of dementia are becoming increasingly evident. It is concluded that the case described may well be a good example of obsessive spectrum, and that the underlying physio-pathology should be studied.

Pouch Function Over Time and With Advancing Age.

No long-term pouch studies have included follow-up >30 years or an analysis in patients >80 years old. This study aimed to investigate pouch function and pouch failure in patients with a pouch in situ >30 years and in patients >80 years old. This is a retrospective review. This study was conducted at an IBD referral center. Adult patients with ulcerative colitis who underwent an IPAA between 1983 and 1990 were selected. The primary outcomes measured were pouch function and pouch failure rates. Data collection included diagnosis, age at IPAA, indication for IPAA, medications at IPAA, pathology at the time of IPAA, postoperative morbidity, functional outcomes, quality of life, pouch excision or ileostomy and indication, and date of last follow-up. All living patients were contacted in April 2020 to retrieve functional data and pouch failure rates. A total of 566 patients had a pouch constructed between 1983 and 1990; of the 145 at most recent contact, 75 had their pouch in situ ≥30 years and 14 were ≥80 years old. Mean age at diagnosis was 25.8 years (10.6 SD), age at surgery was 34.7 years (11.3 SD), and age at last follow-up was 60.5 years (13.2 SD). At a median of 30 years (IQR, 21-32), 145 patients responded to the functional survey. Significantly increased rates of urgency (always, mostly, sometimes: 71.5% vs 23.5%) and seepage during the day (71.4% vs 22.4%) were observed in patients ≥80 years. In patients ≥80 years with a pouch in situ ≥30 years, urgency and incontinence were sometimes experienced by nearly 50% and pouch failure occurred in one third of patients. The overall rate of pouch failure was 19.4% (n = 110) at a median follow-up of 15 years; risk factors were female sex, 3-stage approach, and pelvic sepsis. A retrospective database was used. Patients with IPAA maintain good pouch function even after 30 years and in patients over the age of 80 years. Pouch function declines with time and failure rates increase over time. See Video Abstract at http://links.lww.com/DCR/B684.Función De La Bolsa Ileal En El Tiempo Y En Pacientes De Edad Avanzada. No se han efectuado estudios en pacientes con bolsa a largo plazo que incluyan un seguimiento por treinta años o más y en pacientes mayores de 80 años. Investigar la funcionalidad o la falla de la bolsa en pacientes bolsa in situ por mas de treinta años y en pacientes mayors de 80 años. Revisión retrospective. Centro de referencia de Enfermedad Inflamatoria Intestinal. Pacientes adultos con diagnóstico de colitis ulcerative sometidos a anastomosis bolsa ileal anal (IPAA) entre 1983 y 1990. Indices de efectividad y disfunción de la bolsa ileal. Recopilación de la información incluyendo diagnóstico, edad del procedimiento (IPAA), indicaciones para IPAA, medicamentos para IPAA, patología en el transcurso del IPAA, morbilidad postoperatoria, resultados funcionales, calidad de vida, excisión de la bolsa o ileostomía y su indicación y fecha de seguimiento mas reciente. Se contactaron a todos los pacientes vivos en abril de 202 para recuperar la información de los índices de funcionalidad o disfunción de la bolsa. Se les construyó una bolsa a un total de 566 pacientes entre 1983 y 1990; de los 145 mas recientemente contactados, 75 permanecían con su bolsa in situ ≥ 30 años y 14 eran mayores de 80 años. La edad media en el momento de diagnóstico fue de 25.8 años (con desviación estándar de 10.6, sd), edad al momento de la cirugía fue de 34.7 años (11.3sd), y la edad en el último seguimiento de 60.5 años (13.2,sd). A una media de 30 años (IQR: 21,32), 145 pacientes respondieron al cuestionario de funcionalidad. En pacientes mayores de 80 años se observaron tasas aumentadas de urgencia (siempre, la mayor parte de las veces, algunas veces: 71.5% vs 23.5%) y fuga durante el día (71.4% versus 22.4%). En pacientes mayores de 80 años con una bolsa in situ durante 30 años o más, experimentaron urgencia e incontinencia en cerca del 50% y disfunción de la bolsa en un tercio de los pacientes. La tasa global de fallo de la bolsa fue de 19.4% (n = 110) en un seguimiento a 15 años; los factores de riesgo asociados fueron: sexo femenino, abordaje de tres tiempos y sepsis pélvica. Información retrospective. Los pacientes con IPAA continúan con una función adecuada de la bolsa aún después de 30 años de efectuada así como en pacientes mayores de 80 años. La funcionalidad de la bolsa disminuye con el tiempo y las tasa de falla aumentan de igual forma con el tiempo. Consulte Video Resumen en http://links.lww.com/DCR/B684. (Traducción- Dr. Miguel Esquivel-Herrera).

[Early Huntington disease as a cause of dementia in a 34 year old woman].

Dementia is a subject of interest for both neurologists and psychiatrists. The most common causes of dementia are neurodegenerative diseases of the CNS. Alzheimer's disease is the most frequent of them, much less common are Lewy's body disease, Pick's disease, Parkinson's disease or Huntington's disease. Huntington's disease is an autosomally dominant terminal illness, that occurs in approximately 5 - 7 persons in 100 000. In 90% of the cases it begins after the age of 35, the remaining 10% is the juvenile and early form, which varies from that seen in adults. Rigidity, oral motor dysfunction, gait disorder and rapid cognitive decline are the main characteristics of the juvenile and early form. Chorea is rare or absent. The case of a young woman who developed dementia with motor and speech abnormalities is presented in this paper. Due to the great non-specifity of the symptoms she was being diagnosed for about 2 years (hospitalized 3 times in the neurology wards and 4 times in the psychiatry wards). Lack of family history disorders, no specific abnormalities in neurological examination, abundance of traumatic experiences accounted for the preliminary diagnosis of a dissociative disorder (pseudodementia). Many symptoms, such as depression, obsessive-compulsive disorder, personality and behavioural disturbances were observed in the course of the disease. Finally, after 6 years from the appearance of the first symptoms, based on the third MR of CNS, the diagnosis of the early HD was established. The genetic test confirmed it.

Ileoanal Pouch Syndrome Is Common and Associated With Significant Disability in Patients With Ulcerative Colitis Undergoing IPAA.

Recently, ileoanal pouch syndrome (IPS) has been proposed and defined according to a series of patient-centered bowel symptoms and consequences after ileoanal pouch surgery. The purpose of this study was to investigate the prevalence of IPS and the related disability in UC patients undergoing IPAA. This was a cross-sectional study. This study was conducted in a tertiary center. Data of 128 UC-related IPAA from October 2014 to May 2021 were collected. Primary outcomes were prevalence of IPS. One hundred twenty-eight patients were enrolled with a median postoperative follow-up of 2.64 (IQR, 1.31-3.80) years. The prevalence of IPS and its constituent symptoms and consequences are lower for patients with longer follow-up after ileostomy reversal. Fecal incontinence and pad usage had the greatest impact on the quality of life affecting 29% and 31% of patients. IPS group had a significantly higher IBD-Disability Index score compared to the non-IPS group (27.25 vs 12.15, p < 0.001). Multivariate analysis showed that 4 symptoms (fecal incontinence, clustering, fragmentation and incomplete evacuation, and nocturnal symptoms) and 2 consequences (pad usage and negative mental alterations) were associated with increased IBD-Disability Index (p < 0.05). For patients followed-up for >2 years, multivariate analysis showed that male gender (OR, 4.485; 95% CI, 1.354-14.857; p = 0.014), preoperative duration of disease (OR, 1.013; 95% CI, 1.001-1.025; p = 0.031), and postoperative follow-up (OR, 0.462; 95% CI, 0.244-0.876; p = 0.049) were independently associated with IPS. This is a single-center cross-sectional study rather than a prospective multicenter large longitudinal study. IPS is a common situation negatively affecting the quality of life for patients with ulcerative colitis undergoing IPAA, and its rate decreased over time from ileal pouch surgery. See Video Abstract at http://links.lww.com/DCR/C41. ANTECEDENTES:Recientemente se propuso y definió el síndrome del reservorio ileoanal de acuerdo con una serie de síntomas intestinales centrados en el paciente y las consecuencias después de la cirugía del reservorio ileoanal.OBJETIVO:El propósito de este estudio fue investigar la prevalencia del síndrome del reservorio ileoanal y la discapacidad relacionada en pacientes con colitis ulcerosa con reservorio ileal y anastomosis reservorio-anal.DISEÑO:Este fue un estudio transversal.ESCENARIO:Este estudio se realizó en un centro terciario.PACIENTES:Se recopilaron datos de 128 pacientes con reservorio ileal por colitis ulcerosa desde octubre de 2014 hasta mayo de 2021.PRINCIPALES MEDIDAS DE RESULTADO:Los resultados primarios fueron la prevalencia del síndrome del reservorio ileoanal.RESULTADOS:Ciento veintiocho pacientes fueron reclutados con una mediana de seguimiento postoperatorio de 2,64 (IQR, 1,31-3,80) años. La prevalencia del síndrome del reservorio ileoanal y sus síntomas y consecuencias constituyentes es menor para los pacientes con un seguimiento más prolongado después de la reversión de la ileostomía. La incontinencia fecal y el uso de compresas tuvieron el mayor impacto en la calidad de vida, afectando al 29% y al 31% de los pacientes. El grupo con síndrome del reservorio ileoanal tuvo una puntuación del índice de discapacidad por enfermedad inflamatoria intestinal significativamente más alta en comparación con el grupo sin síndrome del reservorio ileoanal (27,25 frente a 12,15, p <0,001). El análisis multivariado mostró que 4 síntomas (incontinencia fecal, agrupamiento, fragmentación y evacuación incompleta y síntomas nocturnos) y 2 consecuencias (uso de toallas higiénicas y alteraciones mentales negativas) se asociaron con un aumento del índice de discapacidad por enfermedad inflamatoria intestinal (p <0,05). Para los pacientes seguidos durante más de dos años, el análisis multivariado mostró que el sexo masculino (OR, 4,485; IC 95%, 1,354-14,857; p = 0,014), la duración preoperatoria de la enfermedad (OR, 1,013; IC 95%, 1,001-1,025; p = 0,031) y el seguimiento postoperatorio (OR, 0,462; IC 95%, 0,244-0,876; p = 0,049) se asociaron de forma independiente con el síndrome del reservorio ileoanal.LIMITACIONES:Este es un estudio transversal de un solo centro en lugar de un gran estudio longitudinal prospectivo multicéntrico.CONCLUSIONES:El síndrome del reservorio ileoanal es una situación común que afecta negativamente la calidad de vida de los pacientes con colitis ulcerosa sometidos a anastomosis del reservorio ileal-anal, y su tasa disminuyó con el tiempo a partir de la cirugía del reservorio ileal. El sexo masculino y la mayor duración preoperatoria de la enfermedad son factores de riesgo importantes para el síndrome del reservorio ileoanal. Consulte Video Resumen en http://links.lww.com/DCR/C41. (Traducción-Dr. Felipe Bellolio).

Conferencia Cotzias de 1991 de la Sociedad Española de Neurologá. The genetic etiology of Parkinson's disease. A review of the evidence.

It has been amply documented that Lewy body PD can occur on genetic basis. The pedigrees described thus far have constantly shown an autosomal dominant pattern of inheritance. It remains to be determined what proportion of PD generally is familial? Accumulating clinical data indicate the proportion is quite large. The clinical data now available confirm the observations and conclusions of Mjones' pioneering study and are most consistent with the hypothesis that PD is an autosomal dominant disorder with reduced penetrance, markedly age-related expression and a broad range of clinical manifestations extending beyond our traditional clinical concepts of PD and including many atypical cases and formes frustes as Mjones had suggested. As a practical matter of research strategy the study of pedigrees offers the most promising approach available today to clarifying the etiology of PD for they make possible DNA linkage-mapping studies in search of gene loci.

Current Management of Malignant Colorectal Polyps Across a Regional United Kingdom Cancer Network.

The incidence of malignant colorectal polyps has increased secondary to the greater use of diagnostic colonoscopy and introduction of screening programs. Faced with the dilemma of whether major resection is required or whether polypectomy has been sufficient treatment, the clinician relies on high- and low-risk histological parameters to guide decision-making. The purpose of this study was to review current practice and evaluate multidisciplinary team decision-making across a United Kingdom Regional Cancer Network to establish the efficacy of previously set guidance from the Association of Coloproctology of Great Britain and Ireland (2013). This was a retrospective cohort study. The study was conducted at a United Kingdom Regional Cancer Network composed of 4 separate National Health Service Hospital Trusts, covering an overall population of 1.5 million. All patients with malignant colorectal polyps who presented to the colorectal multidisciplinary team over a 3-year period (April 1, 2012 to April 1, 2015) were included. Rate of residual disease after major resection, recurrence of cancer after polypectomy and surveillance alone, reporting of histological features, adherence to endoscopic surveillance guidelines, and outcomes of surveillance cross-sectional imaging were measured. A total of 173 patients (median age = 69 y) with a malignant colorectal polyp were identified during the study period, with a median of 2.7 years of follow-up. Thirty-seven patients (21.4%) underwent primary surgical resection with a residual disease rate of 43% (16/37). The remaining 136 patients (76.8%) were managed conservatively with recurrence in 6 cases (4.4%). Endoscopic follow-up at 3 months occurred in 61% of cases. Histological reporting was varied, with tumor differentiation and resection margin being reported in 84% of cases and lymphovascular invasion and depth of invasion in 71% and 59% of cases, respectively. This was an observational retrospective study. The residual disease rate in patients treated surgically was higher than previously reported (43.2%). Incidence of recurrence in patients treated conservatively was low (4.4%). Areas of improvements have been identified in adherence to endoscopic follow-up, histopathological reporting, and potential overuse of radiological surveillance. See Video Abstract at http://links.lww.com/DCR/B47. MANEJO ACTUAL DE PÓLIPOS COLORRECTALES MALIGNOS A TRAVÉS DE UNA RED REGIONAL DE CÁNCER DEL REINO UNIDO: La incidencia de pólipos colorrectales malignos ha aumentado secundariamente al mayor uso de la colonoscopia diagnóstica y a la introducción de programas de detección. Ante el dilema de si se requiere una resección mayor o si la polipectomía ha sido un tratamiento suficiente, el médico se basa en parámetros histológicos de alto y bajo riesgo, para guiarse en la toma de decisiones.Revisar la práctica actual y evaluar la toma de decisiones, del equipo multidisciplinario de una red regional de cáncer del Reino Unido, para establecer la eficacia de las recomendaciones previamente establecidas, por la Asociación de Coloproctología de la Gran Bretaña e Irlanda (2013).Estudio de cohorte retrospectivo.Red Regional del Cáncer del Reino Unido, que comprende cuatro Fideicomisos Hospitalarios del Servicio Nacional de Salud y que cubren una población general de 1,5 millones de personas.Todos los pacientes con pólipos colorrectales malignos presentados al equipo colorrectal multidisciplinario durante un período de 3 años (01/04/2012-01/04/2015).Tasa de enfermedad residual después de una resección mayor, recurrencia de cáncer después de polipectomía y vigilancia sola, informe de características histológicas, adherencia a directrices de vigilancia endoscópica y resultados de la vigilancia de la imagen transversal.Se identificaron un total de 173 pacientes (mediana de edad de 69 años) con pólipo colorrectal maligno durante el período de estudio, con una mediana de seguimiento de 2.7 años. 37 pacientes (21,4%) fueron sometidos a resección quirúrgica primaria con tasa de enfermedad residual del 43% (16/37). Los 136 pacientes restantes (76.8%) fueron manejados conservadoramente, con recurrencia en 6 casos (4.4%). El seguimiento endoscópico a los 3 meses, ocurrió en el 61% de los casos. El reporte histológico varió con la diferenciación tumoral. El margen de resección se informó en el 84% de los casos. La invasión linfovascular y la profundidad de la invasión fue del 71% y 59% de los casos.Estudio observacional retrospectivo.La tasa de enfermedad residual en pacientes tratados quirúrgicamente, fue más alta que la reportada previamente (43.2%). La incidencia de recurrencia en pacientes tratados de forma conservadora fue baja (4,4%). Se han identificado áreas de mejoras en cumplimiento del seguimiento endoscópico, informe histopatológico y el posible uso excesivo de la vigilancia radiológica. Vea el Resumen del Video en http://links.lww.com/DCR/B47.

[Huntington's disease: molecular foundations and implications in the characterisation of the neuronal mechanisms responsible for linguistic processing].

Certain neuronal models of linguistic processing suggest that the basal ganglia play a key role in this processing, thanks to their integration within the so-called cortico-striato-cortical circuits. A comparative analysis, at a phenotypic and molecular level, of the pathologies, syndromes and disorders that entail a structural alteration and/or a dysfunction of the basal ganglia is essential for validating and optimising such models, as well as for achieving a suitable characterisation of the genetic program responsible for the development and functioning of the 'language organ'. One of the most significant pathologies in this respect is Huntington's disease, which is caused by the destruction of certain groups of neurons in the caudate nucleus. This type of analysis seems to confirm the hypothesis that, during linguistic processing, the basal ganglia would be responsible for planning and modulating the sequential tasks related to the so-called procedural (or computational or rule-applying) component of language. Equally plausible, however, is the hypothesis that, inside them, there would be regions that are specifically dedicated to processing the different (morphological and syntactical) rules that go to make up said component. Additionally, the nature of these subcortical structures and the function they perform would explain the simultaneous presence of an articulatory and a linguistic deficit in disorders in which the basal ganglia are affected. Lastly, this kind of analysis is also making it possible to characterise some of the genes that constitute the genetic program responsible for the development and functioning of this region of the brain and, by extension, of the 'language organ'.