RESUMEN
The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic neuromuscular defect leads, through a fetal hypokinesia-akinesia, to the development of this nonspecific phenotype and a respiratory insufficiency with early postnatal mortality. Severe central nervous anomalies are described in one-third of the reported cases. In this paper a foetus with PSP and 4 further foetuses with severe cerebral malformations and only discrete lung hypoplasia are described. It is not clear whether the cerebral malformations represent a primary or secondary developmental defect.
Asunto(s)
Anomalías Múltiples/genética , Artrogriposis/genética , Encéfalo/anomalías , Hipotonía Muscular/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/patología , Adolescente , Adulto , Artrogriposis/diagnóstico , Artrogriposis/patología , Encéfalo/patología , Consanguinidad , Femenino , Muerte Fetal/patología , Humanos , Recién Nacido , Pulmón/anomalías , Pulmón/patología , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/patología , Embarazo , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/patología , Ultrasonografía PrenatalRESUMEN
In a 50-year-old man with extrahepatic cholestasis and iron-deficiency anaemia, local operative excision of a 4 cm submucous tumour of the papilla of Vater revealed on histological and immunochemical examination a somatostatinoma. Subsequent duodenopancreatectomy further demonstrated in the surgical specimen a lymph node metastasis and a 5 mm somatostatinoma in the papilla minor. The patient has now been free of symptoms for 12 months on substitution treatment with pancreatic enzymes.
Asunto(s)
Adenoma de Células de los Islotes Pancreáticos , Ampolla Hepatopancreática , Neoplasias del Conducto Colédoco , Conductos Pancreáticos , Neoplasias Pancreáticas , Somatostatinoma , Colangiografía , Duodenoscopía , Duodeno/cirugía , Esofagoscopía , Gastroscopía , Humanos , Inmunohistoquímica , Metástasis Linfática , Masculino , Persona de Mediana Edad , PancreatectomíaAsunto(s)
Síndrome de Inmunodeficiencia Adquirida/complicaciones , Endoftalmitis/patología , Neoplasias del Ojo/patología , Infecciones Oportunistas/patología , Sarcoma de Kaposi/patología , Síndrome de Inmunodeficiencia Adquirida/patología , Adulto , Coriorretinitis/patología , Ojo/patología , Humanos , Masculino , Retinitis/patologíaAsunto(s)
Síndrome de Inmunodeficiencia Adquirida/patología , Oftalmopatías/patología , Anticuerpos Anti-VIH/análisis , VIH/inmunología , Serodiagnóstico del SIDA , Adolescente , Adulto , Anciano , Ojo/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Infecciones Oportunistas/patología , Estudios RetrospectivosRESUMEN
Between 1984 and 1987 (over two-and-a-half years) 30 hospitalized patients with HIV infections of different degrees of severity were ophthalmologically examined. Ocular involvement was found in 17 patients (approx. 57%). In 16 of these 17 patients with pathologic ophthalmologic findings (approx. 94%), AIDS was already fully developed. Ocular involvement is therefore a sign of poor prognosis. Fourteen patients had a microvascular retinal syndrome and four patients had infectious (chorio-)retinitis (causative organisms: cytomegalovirus in three cases, Cryptococcus neoformans in one). Further findings included sicca syndrome with superficial punctate keratitis in two cases, keratitis in one patient with generalized mucocutaneous candidiasis, Kaposi's sarcoma of the eyelids in two cases, Kaposi's sarcoma of the conjunctiva in one case, papilledema with cryptococcal meningitis in one case, and atypical hordeolum in one case. Morphologic and pathogenetic aspects of the ophthalmologic findings, their importance and course in AIDS patients, and therapeutic problems are discussed.