Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From December 1964 to November 1989, 71 children from 3 to 17 years of age with the eventual diagnosis of hepatocellular carcinoma (HCC) presented at the National Taiwan University Hospital (Taipei, Taiwan, Republic of China). Forty-three of them had pathologic proof, whereas 28 were diagnosed on a clinical and laboratory basis. A male predominance (M:F = 3.2:1) was noticed. Most patients presented in a late, advanced stage. Abdominal pain and abdominal mass were the major symptoms and signs, followed by anorexia, fever, and internal bleeding. Hydrocele, purpura, and obstructive jaundice were rare presenting symptoms. Hepatosplenomegaly, superficial venous engorgement, and ascites were the main physical signs. The prognosis for such children with HCC was very poor. Only 10% of the patients survived longer than 1 year after the onset of the initial symptom. Among 49 patients who could be followed, only two had long-term survival of over 5 years. One patient had a small HCC with internal bleeding, whereas the other had a large HCC with abdominal distention. Both received surgical resection, and a resection was repeated for tumor recurrence in the patient with the large mass. The resectability of these 71 patients was low (9.8%). Resectability and nonicterus seemed to be the factors indicating favourable prognosis. Observation indicated that the prognosis for children with symptomatic HCC is grave but surgical resection, whenever possible, should be carried out.
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PMID:Hepatocellular carcinoma in childhood. Clinical manifestations and prognosis. 165 24

GM1 Gangliosidosis is an autosomal recessive genetic disorder due to deficiency of the lysosome enzyme beta-galactosidase, with consequent tissue accumulation of glycolipids, oligosaccharides, and especially GM1 ganglioside. In the present paper we report the clinical and laboratory findings obtained for eight families starting from eight index cases exhibiting the childhood form of the disease. The total number of cases in these families may be as high as 14, thus causing GM1 gangliosidosis to be the inborn metabolic error most frequently diagnosed in our service. Hypotonia, neuromotor retardation, hepatosplenomegaly, macrocephaly, and hydrocele are some of the most frequent clinical findings. The disease evolves towards convulsions and bronchopneumonia, leading to patient death generally during the first half of the second year of life. The presence of vacuolated lymphocytes, alterations of the lumbar vertebrae, and cherry spots on the retina were observed in almost all patients. When tested for inborn metabolic errors, all patients gave normal results, a fact that may have confused and delayed diagnosis. Diagnosis was made by urine oligosaccharide chromatography and confirmed by beta-galactoside measurement in peripheral blood leukocytes. This method proved to be accurate also for the detection of heterozygotes, which permitted post-mortem diagnosis in two families. The authors speculate that increased fetal loss and tendency towards macrosomy may be possible characteristics of the disease, suggest that testing for vacuolated lymphocytes be used as a screening method, and propose that urine oligosaccharide chromatography be included in the routine screening for inborn metabolic errors.
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PMID:GM1 gangliosidosis: clinical and laboratory findings in eight families. 392 30

A total of 5,841 obstetric patients were scanned over a period of 34 months. This study was undertaken to establish the anomalies that can be detected by ultrasound and to find out their relative frequencies in Bangladesh. Of the 41 cases of congenital anomalies, seven cases were of hydrocephalus, seven were of hydronephrosis, five were of mild hydrocele (which could be just a physiological variant), five of anencephalus, five of fetal ascites, three of omphalocele, two of small biparietal diameter (BPD), two of short-limb, and one each of gastroschisis, renal cyst, hepatosplenomegaly, pleural effusion with oedema (hydrops fetalis) and bradycardia with irregular fetal heart beats. The benefits of the procedure are that in some cases like hydronephrosis, early detection can lead to early treatment to save the kidney by removing the congenital obstruction soon after birth, and in hydrocephalus and anencephalus it will help in proper management. The problem was there was a chance of higher detection of hydrocephalus and anencephalus as these were clinically suspected by the obstetrician and referred for a scan.
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PMID:A study of fetal anomalies detected by ultrasound in Bangladesh and their relative frequencies. 1198 45