RESUMEN
Two ethnic Chinese men with clinico-radiologic features of Fragile X-associated tremor-ataxia syndrome (FXTAS) were found on genetic testing to have neuronal intranuclear inclusion disease (NIID), highlighting that NIID should be considered in the differential diagnosis of FXTAS. NIID may also be much more common than FXTAS in certain Asian populations.
Asunto(s)
Ataxia/diagnóstico , Síndrome del Cromosoma X Frágil/diagnóstico , Enfermedades Neurodegenerativas/diagnóstico , Temblor/diagnóstico , Anciano , Ataxia/fisiopatología , Diagnóstico Diferencial , Síndrome del Cromosoma X Frágil/fisiopatología , Humanos , Cuerpos de Inclusión Intranucleares , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedades Neurodegenerativas/fisiopatología , Temblor/fisiopatologíaRESUMEN
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal myopathy, in LOC642361/NUTM2B-AS1 and LRP12, respectively. These findings expand our knowledge of the clinical spectra of diseases caused by expansions of the same repeat motif, and further highlight how directly searching for expanded repeats can help identify mutations underlying diseases.
Asunto(s)
Ataxia/genética , Encéfalo/patología , Síndrome del Cromosoma X Frágil/genética , Marcadores Genéticos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Distrofias Musculares/genética , Enfermedades Neurodegenerativas/genética , Temblor/genética , Expansión de Repetición de Trinucleótido/genética , Adulto , Ataxia/patología , Encéfalo/metabolismo , Estudios de Casos y Controles , Femenino , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/patología , Estudio de Asociación del Genoma Completo , Humanos , Cuerpos de Inclusión Intranucleares/genética , Cuerpos de Inclusión Intranucleares/patología , Desequilibrio de Ligamiento , Proteína 1 Relacionada con Receptor de Lipoproteína de Baja Densidad/genética , Masculino , Persona de Mediana Edad , Distrofias Musculares/patología , Mutación , Enfermedades Neurodegenerativas/patología , Neuroimagen/métodos , Linaje , Temblor/patologíaRESUMEN
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.
Asunto(s)
Demencia/genética , Demencia/patología , Enfermedades Neurodegenerativas/genética , Enfermedades Neurodegenerativas/patología , Enfermedades del Sistema Nervioso Periférico/genética , Enfermedades del Sistema Nervioso Periférico/patología , Anciano , Autopsia , Biopsia , Encéfalo/patología , Demencia/complicaciones , Femenino , Genes Dominantes , Humanos , Cuerpos de Inclusión Intranucleares/genética , Cuerpos de Inclusión Intranucleares/patología , Enfermedades Neurodegenerativas/complicaciones , Linaje , Enfermedades del Sistema Nervioso Periférico/complicaciones , FenotipoRESUMEN
This case report is about a 70-years-old female patient, suffering from discal hernia, with compression of the iliac vein, that led to the formation of deep vein thrombosis of the lower limbs. The angio-CT scan revealed the starting point of the L4- L5 compression where a voluminous discal hernia caused deep vein thrombosis, with the involvement the femoro-popliteal venous axis. Blood samples and PET-CT scans excluded other possible etiologic factors. This case demonstrates how a voluminous discal hernia can cause venous thrombosis.
Asunto(s)
Desplazamiento del Disco Intervertebral/complicaciones , Vértebras Lumbares , Trombosis de la Vena/etiología , Anciano , Femenino , Humanos , Extremidad InferiorRESUMEN
Although rare, injuries of the duodenum increased in frequency during the past ten years. Careful attention must be paid to them, especially in blunt trauma of the abdomen and lower thoracic regions. Often they occur along with lesions of other related structures in polytraumatized patients. X-rays are the most important mean used in diagnosis. Early diagnosis and surgical treatment are conditio sine qua non for successful results. Complete intraoperative inspection of the duodenum, careful suture of the perforation and a correct placement of drainage are essential for the prevention of postoperative complications. If the duodenal wall had lost its vitality, a gastrojejunal or duodenojejunal anastomosis or gastrostomy are performed; the duodenum is decompressed and drainage of the peritoneal cavity is established. In cases of associated injury of the pancreas or choledochus, the drainage of the extrahepatic bile duct is recommended. The Authors report a case of spontaneous rupture of duodenum in which all of the above mentioned procedures were used; they stress that only suspicion of a duodenum's rupture indicates an immediate laparotomy.
Asunto(s)
Enfermedades Duodenales , Diagnóstico Diferencial , Enfermedades Duodenales/diagnóstico , Enfermedades Duodenales/diagnóstico por imagen , Enfermedades Duodenales/cirugía , Duodeno/lesiones , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Radiografía Abdominal , Rotura , Rotura Espontánea , Técnicas de Sutura , Factores de Tiempo , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
The BIS-index data show that an opiate as Fentanyl is advisable with associations Cisatracurium/Propofol or Vecuronium/Propofol. It is possible to use in these cases a drip infusion to avoid the risk of awareness during intubation.
Asunto(s)
Anestesia General/métodos , Atracurio/análogos & derivados , Concienciación , Monitoreo Intraoperatorio/métodos , Adulto , Anciano , Anciano de 80 o más Años , Analgésicos Opioides/administración & dosificación , Anestésicos Intravenosos/administración & dosificación , Atracurio/administración & dosificación , Quimioterapia Combinada , Electroencefalografía/efectos de los fármacos , Potenciales Evocados Auditivos/efectos de los fármacos , Femenino , Fentanilo/administración & dosificación , Humanos , Infusiones Intravenosas , Intubación Intratraqueal , Masculino , Persona de Mediana Edad , Bloqueantes Neuromusculares/administración & dosificación , Fármacos Neuromusculares no Despolarizantes/administración & dosificación , Propofol/administración & dosificación , Bromuro de Vecuronio/administración & dosificaciónRESUMEN
Typical sites of bronchogenic carcinoma metastases are liver, brain, bones or adrenal glands. Rarely and in advanced dissemination phase it could involve the skeletal muscle. Two cases of metastases in the skeletal muscle from bronchogenic carcinoma, one of which revealed this neoplasia, are reported.
Asunto(s)
Adenocarcinoma/secundario , Carcinoma de Células Pequeñas/secundario , Neoplasias Pulmonares , Neoplasias de los Músculos/secundario , Músculo Esquelético , Adenocarcinoma/patología , Adenocarcinoma/cirugía , Adulto , Carcinoma de Células Pequeñas/patología , Carcinoma de Células Pequeñas/cirugía , Antebrazo , Humanos , Pulmón/patología , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Masculino , Persona de Mediana Edad , Neoplasias de los Músculos/diagnóstico , Neoplasias de los Músculos/patología , Músculo Esquelético/patología , Tomografía Computarizada por Rayos XRESUMEN
Four hundred sixty patients who had undergone resection for lung cancer, with a minimum follow-up of 10 years, were analyzed retrospectively. Thirty-eight cases developed postoperative empyema. A comparative evaluation of the long-term survival rate was made of two groups: one in which the patients had developed empyema and one in which the patients had developed no empyema complications. The survival rate was estimated by the Kaplan Meyer Product Limit Method. The prognostic significance of empyema and other factors was analyzed by the Log Rank Test, the chi 2 test in homogeneous series of patients and the Cox Hazard Model. Overall, the ten-year survival rate was 23.7% in the empyema group and 15.9% in the control group. After stratification by post-surgical stage, lymphocytic infiltration of primary-tumor (LI), and histological type, no significant differences in survival between the two groups were demonstrated by the Log Rank Test. The same results were found when the survival distribution of the empyema cases was compared with two control groups of patients without empyema, individually paired to the empyema group for Immune Response (LI), post-surgical stage, and histological type. In the end, after multivariate analysis empyema was not shown to be a factor of prognostic significance.