ABSTRACT
We present four FIPA kindred discussing clinical and molecular data and emphasizing the differences regarding AIP status, as well as the importance of genetic screening. Family 1 consists of five patients harboring somatotropinomas with germline E24X mutation in AIP. In one of the patients, acromegaly was diagnosed through active screening, being cured by surgery. Families 2 and 3 are composed of two patients with non-functioning pituitary adenomas. Family 4 comprises patients harboring a prolactinoma and a somatotropinoma. No mutations in AIP were found in these families. No patient in Family 1 was controlled with octreotide treatment, while the acromegalic patient in Family 4 was controlled with octreotide LAR. In conclusion, FIPA is a heterogeneous condition, which may be associated with AIP mutation. Genomic and clinical screening is recommended in families with two or more members harboring pituitary adenomas, allowing early diagnosis and better outcome.
Apresentamos dados clínicos e moleculares de quatro famílias com adenoma hipofisário familiar isolado (FIPA) enfatizando as diferenças na presença ou não de mutação do AIP e a importância da triagem genética. A Família 1 é composta por cinco pacientes portadores de somatotropinomas com mutação germinativa E24X no AIP. Um dos pacientes foi diagnosticado por meio de rastreio ativo, com cura cirúrgica. As Famílias 2 e 3 apresentam em sua composição dois pacientes com adenomas hipofisários não funcionantes. A Família 4 compreende dois pacientes, um com prolactinoma e outro com somatotropinoma. Não foi encontrada mutação no AIP nessas famílias. Na Família 1, não houve resposta ao octreotide, enquanto o paciente acromegálico da Família 4 foi controlado com a medicação. Em conclusão, a FIPA é uma condição heterogênea que pode estar associada à mutação do AIP e o rastreio genético/clínico é recomendado nas famílias com dois ou mais membros portadores de adenoma hipofisário. Isso permite um diagnóstico precoce, com melhor prognóstico.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Adenoma/genetics , Family , Intracellular Signaling Peptides and Proteins/genetics , Mutation , Pituitary Neoplasms/genetics , Acromegaly/diagnosis , Adenoma/diagnosis , Pituitary Neoplasms/diagnosis , Prolactinoma/diagnosis , Prolactinoma/geneticsABSTRACT
The aim of the present study was to evaluate the chronic toxicity of ethanol low blood levels in malnourished rats. Female Wistar rats (220 g) were subjected to either an ad libitum diet (W, well-nourished, n=10) or food restriction (M, malnourished, n=10). Water (WW and MW) or ethanol solution (W5 percent and M5 percent) was offered to half of each nutritional group (n=5) as the only fluid source. The treatment was continued for two months. After sacrifice, blood biochemical parameters and macroscopic, histologic and morphometric evaluation of the liver were performed. Results indicated that: Ethanol consumption was higher in malnourished rats and minimized body weight loss in malnourished rats, while it decreased the body weight gain in well-nourished ones. Behavioral ethanol intoxication was more severe in malnourished rats. Malnutrition decreased hematocrit and hemoglobin but, on the other hand, ethanol was a protective factor of that effect (hemoglobin: MW 10.6 mg/dl / ME 13.02 mg/dl, p< 0.05). Ethanol increased the relative liver weight of both well-nourished and malnourished rats. Ethanol intake minimized iron pigment, collagen area and binuclear hepatocyte/ field increased by malnutrition. These data are in accordance with previous reports which showed ethanol as an important source of calories and, even chronically, ethanol still attenuates the effects of malnutrition.
Subject(s)
Animals , Female , Rats , Ethanol/toxicity , Liver/drug effects , Malnutrition/physiopathology , Ethanol/administration & dosage , Ethanol/blood , Hematocrit , Hemoglobins/analysis , Hemoglobins/drug effects , Liver/pathology , Malnutrition/blood , Organ Size/drug effects , Rats, Wistar , Time FactorsABSTRACT
A clinical study on the evolution of patients with schistosomiasis mansoni conducted since 1983 at the outpatient clinic of the Infectious and Parasitic Disease Service in the Clementino Fraga Filho University Hospital in Rio de Janeiro, Brazil, comparing prevalence of positive tests for HBsAg, anti-HBsAg, and anti-HBc among patients infected with Schistosoma mansoni coming from various regions of Brazil and with different clinical forms of the disease. A non-significant predominance of HBsAg, anti-HBsAg, and anti-HBc was detected among patients with the hepatosplenic form of schistosomiasis, who presented a more severe clinical evolution with a higher frequency of hematemesis and/or melena, in addition to the development of macronodular cirrohosis and a worse prognosis as compared to patients with the toxemic form, schistosomiasis-infection and the hepatointestinal form.