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)

Hepatosplenomegaly accompanied with different intestinal troubles is more or less a marked clinical manifestations in children. The histopathological and histochemical changes were studied in biopsied materials taken from the sigmoidal and rectal tissues of 49 children. These children had schistosomiasis mansoni (26), schistosomiasis and amoebiasis (4), schistosomiasis and tuberculosis (TB.) (2), amoebiasis (4), thalassemia (6), acute myeloid leukaemia (AML) (1), mucopolysaccharidosis (1) and bacillary dysentery (5). The pathological changes were erosion ulceration hyperplasia, atrophy, crypt-abscess and fibrosis (mucosa) and oedema, congestion, cellular infiltration (Lamina propria). The chemical changes were the mucin secretion, deposition of collagen and fibrin and activity of the argentaffin cells. Not all the disease agent had the same effect, but changes were marked mainly in children with S. mansoni and/or E. histolytica.
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PMID:Histopathological and histochemical studies on the sigmoidal and rectal tissues of hepatosplenic children with gastro-intestinal troubles. 143 Dec 83

Thirty patients suffering from active intestinal S. mansoni infection, were classified into 3 groups. The first group: 13 cases with early active intestinal schistosomiasis without hepatosplenomegaly. The second group: 11 cases with hepatosplenomegaly and the third group: 6 cases with splenomegaly and ascites. Also 10 normal individuals were included as a normal control group. Histopathological examination of rectal mucosa showed hyperaemia with extravasation of blood in early cases and granulomatous lesions in the second group with hepatosplenomegaly. The structural changes were severe in the late ascitic group. In this group the rectal mucosal glands showed distorted irregular tubular branching in addition to the granulomatous and the fibrous reactions. Histochemical studies including periodic acid schiff, alkaline phosphatase and acetyl cholinestrase reactions were done. Using the periodic acid shiff stain, the goblet cells showed strong reaction for neutral mucin in cases of group I (early cases) and group II (late hepatosplenomegalic cases). In group III (late ascitic cases) the goblet cells were faintly stained. A notable difference was observed between the lightly and heavily infected patients of this group. No alkaline phosphatase reactivity could be identified in rectal crypts of patients and controls. Alkaline phosphatase reactivity was sharply localised in S. mansoni egg shell. There was obvious decrease in the acetyl cholinesterase stained nerve fibres in the rectal mucosa of all studied patients. The decrease was more in chronic and heavily infected cases rather than in the acute and lightly infected ones.
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PMID:Histochemical studies on rectal mucosa in active intestinal schistosomiasis. 190 99

Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are challenging. Exome sequencing in a family with three siblings affected by abnormal Golgi glycosylation revealed a homozygous missense mutation, c.92T>C (p.Leu31Ser), in coiled-coil domain containing 115 (CCDC115), the function of which is unknown. The same mutation was identified in three unrelated families, and in one family it was compound heterozygous in combination with a heterozygous deletion of CCDC115. An additional homozygous missense mutation, c.31G>T (p.Asp11Tyr), was found in a family with two affected siblings. All individuals displayed a storage-disease-like phenotype involving hepatosplenomegaly, which regressed with age, highly elevated bone-derived alkaline phosphatase, elevated aminotransferases, and elevated cholesterol, in combination with abnormal copper metabolism and neurological symptoms. Two individuals died of liver failure, and one individual was successfully treated by liver transplantation. Abnormal N- and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts, which was restored after complementation with wild-type CCDC115. PSI-BLAST homology detection revealed reciprocal homology with Vma22p, the yeast V-ATPase assembly factor located in the endoplasmic reticulum (ER). Human CCDC115 mainly localized to the ERGIC and to COPI vesicles, but not to the ER. These data, in combination with the phenotypic spectrum, which is distinct from that associated with defects in V-ATPase core subunits, suggest a more general role for CCDC115 in Golgi trafficking. Our study reveals CCDC115 deficiency as a disorder of Golgi homeostasis that can be readily identified via screening for abnormal glycosylation in plasma.
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PMID:CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. 2683 32