Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Haematological, clinical and some molecular genetic features of homozygous sickle cell (SS) disease in Saudi Arabia have been compared in 33 patients from the Eastern Province (Eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian beta globin haplotype whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had more deletional alpha thalassaemia, higher total haemoglobin and fetal haemoglobin levels, and lower HbA2, mean cell volume, reticulocytes, and platelet counts. Clinically, Eastern patients had a greater persistence of splenomegaly, a more normal body build and greater subscapular skin fold thickness, and Western patients had more dactylitis and acute chest syndrome. Painful crises and avascular necrosis of the femoral head were common and occurred equally in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe consistent with the Benin haplotype suggesting an African origin.
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PMID:Two different forms of homozygous sickle cell disease occur in Saudi Arabia. 171 63

A radiological diagnosis of gastric volvulus (GV) was made in 11 of 576 consecutive upper gastrointestinal series at the University of Benin Teaching Hospital, Nigeria, over a two-year period. The clinical symptoms were thoracico-abdominal in three and abdominal in eight; these cases were evaluated as acute in three, acute upon chronic in two, and chronic in six. There was a significant delay in the diagnosis in all cases (except a neonate in the series), and no case was diagnosed on clinical grounds alone.THE PREDISPOSING FACTORS (EXCEPT THE CLINICAL MISDIAGNOSIS OF THE NEONATE) IN SIX OF THE SEVEN CASES THAT CAME TO SURGERY WERE: diaphragmatic hernia and perigastritis (left lung abscess, thoracic empyema), arteriomesenteric compression of the duodenum in pregnancy (peptic ulcer), splenomegaly (hepatosplenomegaly, ascites, esophageal varices), previous gastrojejunostomy (stomal ulcer, left subphrenic abscess) and two cases of intestinal malrotation with mesenteric abnormalities (small bowel obstruction in one and duodenal atresia in the other). In one idiopathic case, gastric outlet obstruction was clinically suspected prior to surgery. Thus, the putative rarity of GV in black Africans is not supported by this experience.Gastric volvulus is a clinico-radiologic entity that may present with a confusing thoracico-abdominal symptom complex. A greater awareness of the radiologic features is quintessential to an expeditious and usually successful surgical management that will avoid potentially serious complications. Negative surgical findings do not exclude GV as the underlying cause of acute abdomens necessitating emergency laparotomies.
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PMID:Volvulus of the stomach: an African series and a review. 356 Feb 44

Admission records of children with sickle cell anemia (SS), in the two main teaching hospitals in Kuwait, were reviewed for a 1-year period. The haplotypes of 92 beta s chromosomes (from 39 SS, 11 AS, 2 S beta-thalassemia [S beta-thal] and 1 SD individuals) were determined using an allele-specific oligonucleotide (ASO) hybridization technique, while the alpha-globin gene status of 27 SS and 33 AS individuals, i.e. 120 chromosomes, was determined with a combination of polymerase chain reaction and AS techniques. A vasooclusive crisis was the most common (60.0%) cause of hospitalization, followed by infections (20%). Hospital admissions were most common during the hottest month of the year (July). Few complications of the disease were seen among patients on follow-up; however, splenomegaly was present in 24.0%, hepatomegaly in 15.2%, gallstones in 15.2% and aseptic necrosis of the femoral head in 6.1%. Haplotype 31 (Saudi Arabia/India) is the most frequent in this community, being present in 80.4% of the chromosomes tested; Benin haplotype 19 was found in 12.0% and Bantu haplotype 20 in 6.5%. Hb F in the haplotype 31 homozygotes and heterozygotes ranged from 11.4 to 35.1% (mean 22.5 +/- 5.2%). The frequency of alpha-thal determinants in the study was 40.0%, the commonest being the -alpha 3.7-kb deletion (27.5%), the alpha 2 polyadenylation signal (AATAAA-> AATAAG) mutation (10.2%) and the IVS-I 5' end GAGGT-GAGG->GAGG pentanucleotide (5 nt) deletion (3.3%). SS patients with coexistent alpha-thal trait did not have severe recurrent infections and none had gallstones. The high frequencies of the Saudi Arabia/India beta s haplotype and alpha-thalassemia trait contribute to the mild nature of SS disease among Kuwaiti Arabs comparable to that in eastern Saudi Arabia.
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PMID:Morbidity, beta S haplotype and alpha-globin gene patterns among sickle cell anemia patients in Kuwait. 887 12