there are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. the authors report a neonate affected by familial hyperchylomicronemia, while being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. based on this very abnormal lipid profile...

Dominant mutations of the SOD1 gene encoding Cu,Zn superoxide dismutase have been found in members of certain families with familial amyotrophic lateral sclerosis (ALS). To better understand the contribution of SOD1 mutations in the pathogenesis of familial ALS, we developed transgenic mice expressing one of the mutations found in familial ALS. These animals display clinical and pathological fe...

BACKGROUND A familial occurrence of intracranial aneurysms is defined by the presence of such aneurysms in two or more first to third-degree family members. Families with two affected members may represent accidental aggregation. Other families show a frequency compatible with an autosomal dominant mode of inheritance. A genetic basis is also suggested by the younger average age of familial cas...

Introduction: Familial Mediterranean Fever (FMF) is a disease with recurrent fever, characterized by painful, noninfectious inflammation of the serous membranes. It mostly affects Armenians, Turks, Arabs and Jews. Prolonged in FMF may lead to atrial fibrosis which can cause deterioration conduction time refractory periods myocardium.In present study we aimed assess children FMF.Methods: The inc...

Background: A familial occurrence of intracranial aneurysms is defined by the presence of such aneurysms in two or more firstto third-degree family members. Families with two affected members may represent accidental aggregation. Other families show a frequency compatible with an autosomal dominant mode of inheritance. A genetic basis is also suggested by the younger average age of familial cas...

The aim of our investigation was to evaluate, with a prevalence study, the modes of transmission of Hepatitis B virus (HBV), within infected subjects and their household contacts in the State of Amazon, western Brazilian Amazon. We studied 97 index cases and 258 household contacts. Out of the 258 household contacts of HBV, 51.6% had serological markers of a past infection, 12.0% signs of active...

To better understand the origins and modes of transmission of HTLV-3 and to search for other retroviral infections (HTLV-1, HTLV-2, foamy viruses), we studied the family of a HTLV-3-infected individual (Pyl43), from Cameroon. Thirty-five persons were included. All adult men were still actively hunting nonhuman primates (NHP). All women were also butchering and cutting-up animals. Five persons r...

This paper aimed to look for the existence of a common core when envisaging intra-familial interactions as perceived by adolescents, which could be shared by sociology, psychoanalysis and child and adolescent psychiatry. An empirical study based on a mixed-method design collected the responses of 194 adolescents to the instruction "In the next half hour, would you please write as freely as you ...

CONTEXT Desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. The development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. OBJECTIVES To evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to p...