نتایج جستجو برای: hepatomegaly
تعداد نتایج: 2084 فیلتر نتایج به سال:
The long-term impact of annual case-finding and chemotherapy with praziquantel on schistosomiasis japonica was examined in an 8-year longitudinal study in the Philippines. The prevalence, incidence, and intensity of infection and schistosome-induced hepatomegaly significantly decreased within 3-4 years of treatment and then stabilized despite continual population-based chemotherapy. Hepatomegal...
We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β-hydroxy-Δ5-C27-steroid dehydrogenase (3β-HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ioniza...
A 17-year-old previously healthy high school student who lived in a dormitory was referred to our office by her private physician for evaluation of abnormal liver function tests. She was sexually active with one partner but denied any current or past substance abuse. The patient was not taking any medications or nutritional supplements. Family history was unremarkable. Physical examination reve...
Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within multiple organs. It is an autosomal recessive disease that is due to a deficiency in lysosomal acid lipase (LAL) activity, which is coded by the ...
Background: Congenital hepatic fibrosis (CHF) is an autosomal hereditary disorder affecting the porto-biliary system. It is a rare hereditary disorder often presenting in childhood or adolescence with hepatomegaly, splenomegaly, and gastrointestinal bleeding. A timely diagnosis of organomegalies by sonography can prevent esophageal varices. Liver transplantation is now the only...
Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when ...
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhe...
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