Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The liver in an infant or child is as liable to the same pathologies afflicting the adult liver but with certain differences in prevalence and causes. Genetic disorders are more likely to present in the paediatric age group where many involve metabolic processes such as galactosemia, phenylketonuria, glycogen storage disease and others. Many of these present in the newborn period. However, neoplasms and hamartomas also present in the newborn period, such as congenital neuroblastoma with an enormously enlarged liver, hepatoblastoma and haemangioma. The latter may present with intractable cardiac failure as a result of considerable shunting of blood. Acquired liver lesions often present in the newborn period or early infancy and this includes hepatitis and biliary atresia. The difficulties in the differentiation of the two lesions will be discussed together with the management of biliary atresia. As the child grows older, Reyes encephalopathy with microvesicular fat in the liver is not uncommon. The pathophysiology of Reyes encephalopathy as seen locally will be described. The choledochal cyst with direct (Caroli's disease) or indirect effect on the liver will be described. Problems of childhood portal hypertension as well as congenital hepatic fibrosis will be described. Hemosiderosis of the liver is chiefly seen in homozygous beta-thalassaemia patients who have been kept alive with repeated blood transfusions. Amoebic and pyogenic hepatitis, fatty liver due to protein malnutrition, biliary ascariasis, etc, which are common in tropical and subtropical countries are rarely seen now in Singapore children.
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PMID:Paediatric liver disorders in Singapore. 346 38

Intrahepatic stones remain a major source of morbidity and mortality. With improving techniques in hepatobiliary surgery, the management and the outcome of intrahepatic calculi is reviewed. Forty-nine cases referred from all over Malaysia between January 1993 to June 1996 were analyzed retrospectively. There were thirty-two females and seventeen males. The median age was 46 years. Biliary diseases encountered in association with intrahepatic calculi included benign strictures (n = 14), ascariasis (n = 3), cholangiocarcinoma (n = 1), Caroli's disease (n = 1), and thalassaemia, (n = 1), fifty-six percent of stones were located in both the intrahepatic ducts while 34% were found in the left intrahepatic duct. Thirty-one patients underwent common bile duct exploration either alone or in combination with liver resection or bilioenteric anastomosis. Despite the various combinations of surgical and non-surgical intervention 28 (57.1%) patients had residual stones. Despite the availability of newer techniques in hepatobiliary surgery, residual stones were common, resulting in higher treatment costs.
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PMID:Intrahepatic stones: the UKM experience. 1122 Nov 60