Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.

BACKGROUND: Insomnia with predominant thalamic involvement and minor cortical and cerebellar pathologic changes is not characteristic of familial Creutzfeldt-Jakob disease (CJD) but is a hallmark of fatal familial insomnia. OBJECTIVE: To report a 53-year-old woman with intractable insomnia as her initial symptom of disease. METHODS: The authors characterized clinical, pathologic, and molecular features of the disease using EEG, polysomnography, neurohistology, Western blotting, protein sequencing, and prion protein (PrP) gene (PRNP) analysis. RESULTS: The patient developed dysgraphia, dysarthria, bulimia, myoclonus, memory loss, visual hallucinations, and opisthotonos, as well as pyramidal, extrapyramidal, and cerebellar signs. Polysomnographic studies showed an absence of stages 3 and 4, and REM. She died 8 months after onset. On neuropathologic examination, there was major thalamic involvement characterized by neuronal loss, spongiform changes, and prominent gliosis. The inferior olivary nuclei exhibited chromatolysis, neuronal loss, and gliosis. Spongiform changes were mild in the neocortex and not evident in the cerebellum. PrP immunopositivity was present in these areas as well as in the thalamus. PRNP analysis showed the haplotype E200K-129M. Western blot analysis showed the presence of proteinase K (PK)-resistant PrP (PrP(sc)) with the nonglycosylated isoform of approximately 21 kd, corresponding in size to that of type 1 PrP(sc). N-terminal protein sequencing demonstrated PK cleavage sites at glycine (G) 82 and G78, as previously reported in CJD with the E200K-129 M haplotype. CONCLUSIONS: Insomnia may be a prominent early symptom in cases of CJD linked to the E200K-129M haplotype in which the thalamus is severely affected.

Carcinoma de endometrio: revisión clínico-patológica de 6 años en relación con los factores pronósticos / Endometrial carcinoma: Clinico-pathological revision after 6 years, related to prognostic factors

Los carcinomas de endometrio se dividen en dos categorías mayores (I y II), según los datos clínico-patológicos y las alteraciones genéticas. Los de tipo I se asocian con hiperestimulación estrogénica, obesidad, tratamiento hormonal exógeno y reconocen como lesión precursora a la hiperplasia endometrial con desarrollo de carcinomas endometrioides (CE). Los de tipo II predominan en mujeres postmenopáusicas, de subtipos histológicos más frecuentes serosos y de células claras. El objetivo es realizar una revisión anátomo-clínica de los carcinomas de endometrio, estudiados en nuestra institución entre el periodo comprendido entre 1/01/2005 y 31/12/2010. Se realizó estudio retrospectivo y descriptivo de 234 casos de pacientes con diagnóstico de carcinoma endometrial. La edad promedio de las pacientes fue de 68,6 años. El motivo de la consulta en la mayoría de los casos fue metrorragia de la postmenopausia (91,2 por ciento). El factor de riesgo más frecuente fue hipertensión arterial (22 pacientes). El 67,5 por ciento de las pacientes tenían antecedentes de biopsia previa por videohisteroscopía realizada en nuestra institución, observándose concordancia diagnóstica en un 91 por ciento. Se clasificaron según la OMS en CE (79 por ciento), adenocarcinoma seroso (9 por ciento) y mixtos (12 por ciento). El grado histológico (GH) FIGO fue en el 86 por ciento tipo I (exclusión de carcinomas serosos) y el estadío más frecuente fue el I ( 65 por ciento). La metaplasia (Me) más frecuente observada en estas neoplasias fue la mucinosa (35 por ciento). Las mórulas se presentaron en 2 casos comprobados por IHQ con positividad para CD 10 y CDX-2 y negatividad para p63. Se evidenciaron cambios reactivos en el 26 por ciento. El patrón MELF (glándulas microquísticas, elongadas y fragmentadas), de infiltración en la pared miometrial, se identificó en 3 casos. El CE fue el tipo histológico más frecuente y su presentación (mayoritariamente en estadios tempranos de enfermedad), se asoció en un alto porcentaje con las metaplasias mucinosa y tubaria...

Endometrial carcinomas are divided into two major categories (I and II), according to clinicopathologic and genetic alterations. The type I is associated with estrogen hyperstimulation, obesity, exogenous hormonal treatment, and endometrial hyperplasia is recognized as a precursor lesion, with the consecuent endometroid carcinoma. The type II predominate in post-menopausal women, most common histologic subtypes are serous and clear cell. The aim is to review the anatomical and clinical characteristic of endometrial carcinomas, studied at our institution between 01/01/2005 and 31/12/2010. We performed a retrospective and descriptive study of 34 cases of patients with endometrial carcinoma. The average age was 68.6 years. The reason for consultation in most cases was post-menopausal's metrorrhagia (91.2 percent) Hypertension (22 patients) was the more prevalent risk fctor. 67.5 percent of the patients had a history of prior biopsy (histeroscopy) performed at our institution; diagnostic concordance was observed in 91 percent. Were classified according to the WHO in endometrioid carcinomas (79 percent), serous adenocarcinoma (9 percent) and mixed (12 percent). FIGO histologic grade was 86 percent in type I (excluding serous carcinomas) and stage I was the most frequent (65 percent). Mucinous metaplasia was the most frequently observed (35 percent). The morulae were presented in 2 cases (IHC positive for CDX-2 and CD10, and negative for p63). Reactive changes were in 26 percent. The MELF pattern of myometrial infiltration was identified in 3 cases. Endometrioid carcinoma was the most common histological type and presentation (mostly in early stages of disease). Was associated with a high percentaje of tubal and mucinous metaplasia (this would indicate malignancy attenuated). Not yet known meaning of morulae in carcinomas. While it must be record horns infiltration, the presence or not of the same does not change the treatment.

Mesotelioma pleural sarcomatoide, con diseminación masiva a peritoneo y pericardio. Un caso de autopsia / Malignant pleural mesothelioma, with generalized dissemination to peritoneum and pericardium: a descriptive autopsy report

El mesotelioma maligno es una neoplasia originada a partir de las células mesoteliales de las membranas serosas (pleura, peritoneo, pericardio y otros). Es 5 veces más frecuente en la cavidad pleural que en la peritoneal, y puede observarse en ambas por extensión directa a través del diafragma(1). Se presenta el caso de autopsia en una mujer de 83 años, sin antecedentes de exposición al asbesto, oligosintomática, con mesotelioma pleural maligno tipo sarcomatoide, en estadio avanzado (Estadio IV). El mesotelioma es una neoplasia letal, su diagnóstico a veces resulta dificultoso debido al crecimiento lento, las manifestaciones clínicas tardías y el diagnóstico en estadios avanzados. En primer lugar debe descartarse secundarismo y ante clínica e imágenes compatibles debe plantearse su diagnóstico.

Malignant mesotheliomas are tumors derived from mesothelial cells that form the serous membranes. The incidence of mesotheliomas show a rate 5 times greater in the pleural cavity than in the peritoneum; but they can be detected in both, as a result of direct invasion through the diaphragm. A case out from an autopsy is reported, of a 83 years old female patient, with no previous history of exposure to asbestos, oligosymptomatic, with malignant pleural mesothelioma of sarcomatoideal type, at an advanced stage (Stage IV). Malignant mesotheliomas are relatively rare being a highly lethal neoplasia its diagnosis is sometimes difficult because the have a gradual development and growth, with late clinical manifestions, and with diagnosis at an advanced evolutive stages. First of all, secondarism must be discarged, and in presence of compatibles images, its diagnosis must be hypothesized.