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)

A 72-year-old woman presented with a diffuse infiltrating soft tissue mass involving the entire right orbit. She had a pre-existing phthisis of the right eye secondary to retinal detachment, and had developed painless proptosis on the same side. Her medical history included rheumatoid arthritis, leucopenia, and an enlarged spleen, characteristics consistent with the diagnosis of Felty's syndrome. Risk of lymphoma is thought to be higher in patients with established connective tissue disorders. The case described herein, to our knowledge, represents the first report of an association between Felty's syndrome and orbital lymphoma. The symptoms of Felty's syndrome in our patient were initially attributed to spread of a malignant process involving the orbit.
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PMID:Orbital lymphoma in a patient with Felty's syndrome. 154 May 65

Leukemias are the commonest childhood malignancy in West Bengal. This study was undertaken on 75 children at NRS Medical College, West Bengal to determine the distribution of signs and symptoms of leukemia and to identify unusual clinical features. After obtaining clinical history, physical examination, hematological and radiological investigations were performed. Acute lymphoblastic leukaemia (ALL, 72%) was the commonest followed by acute myeloid leukaemia (AML, 18.7%). Common symptoms and signs were fever (85.3%), pallor (64%), hepatomegaly (72%), splenomegaly (60%) and lymphadenopathy (50.7%). The uncommon signs and symptoms were abdominal pain (9.3%), joint pain (9.3%), hematemesis and malena (8%), diarrhea (5.3%), proptosis (2 cases), dysphagia, mediastinal mass and parotid swelling (1 case each). Uncommon clinical presentations lead to delay in diagnosis in some cases. Awareness of uncommon signs and symptoms of childhood leukemia together with laboratory tests may help in earlier diagnosis and proper management of the patients.
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PMID:Childhood acute leukemia in West Bengal, India with an emphasis on uncommon clinical features. 2059 69

Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile osteopetrosis. The proband exhibited macrocephaly, prominent forehead, proptosis of the eyes, strabismus, splenomegaly and joint hyperlaxity. Bone X-rays showed increased bone density, metaphyseal under-modelling, transverse alternating bands of greater and lesser density in tubular bones, anteriorly notched vertebral bodies and bone-in-bone appearance. Brain atrophy, external hydrocephalus and thin corpus callosum were noted at the brain MRI and CT scan. Blood test results revealed the presence of anaemia and leukopenia. Our findings confirm the role of SNX10 in autosomal recessive osteopetrosis and help to better define the core set of manifestations associated with this new pathological entity.
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PMID:Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. 2312 20

This report describes a new syndrome affecting farmed Atlantic salmon on the Canadian east coast that has resulted in increased morbidity and mortality in affected stocks. The major pathological findings are apparent only microscopically and include renal interstitial haemorrhage and acute tubular necrosis and tubular casting. As a result, the disease has become known as haemorrhagic kidney syndrome (HKS). Affected fish are lethargic and anorectic, and lack external lesions. Clinically, HKS fish are anaemic, hypoproteinaemic and hyperosmolalic, with increased serum concentrations of sodium and chloride. At necropsy, internal changes ranged from apparently normal to include one or several of the following: swelling and/or patchy reddening of the kidney, pale gills, exophthalmos, serosanguinous ascites, darkening of the posterior intestine and splenomegaly. Ultrastructurally, viral inclusions were found in the cytoplasm of erythrocytes of HKS fish, and there were unusual electron-dense inclusions within the tips of renal tubular microvilli of HKS fish. The significance and relevance of the ultrastructural findings to HKS are unknown. Virus isolation was attempted using CHSE, RTG-2, FH-10, BB and EPC cell lines; no virus was isolated. Bacteriological analysis failed to reveal significant pathogens. Analysis of tissues for heavy metals and pesticides was negative. Assays for clostridial toxins, lipopolysaccharide and verotoxins were negative. The aetiology of HKS remains unresolved.
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PMID:Haemorrhagic kidney syndrome of Atlantic salmon, Salmo salar L. 2973 42

Lactococcosis is a fish disease of major concern in Mediterranean countries caused by Lactococcus garvieae. The most susceptible species is the rainbow trout (Oncorhynchus mykiss), suffering acute disease associated with elevated mortalities compared to other fish species. References reported that other salmonids are also susceptible to the disease, but no mortality outbreak has been described to date. The aim of this study was to present a mortality outbreak that occurred in brook trout (Salvelinus fontinalis) farmed in northwestern Italy during the summer of 2018. Fish exhibited clinical signs, such as exophthalmos, diffused hemorrhages localized in the ocular zone, hemorrhagic enteritis, and enlarged spleen. L. garvieae was isolated in all fish. Molecular and epidemiological characterization of the isolates, through Pulsed Field Gel Electrophoresis (PFGE), confirmed the initial hypothesis of water as vehicle of infection favoring transmission between rainbow trout farmed in upstream compartments and brook trout located in downstream tanks. Moreover, several environmental conditions affected and promoted the outbreak, among them the high-water temperature, which probably induced a physiological stress in brook trout, being way above the optimal temperature for this species, increasing the susceptibility to infection.
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PMID:A Summer Mortality Outbreak of Lactococcosis by Lactococcus garvieae in a Raceway System Affecting Farmed Rainbow Trout (Oncorhynchus mykiss) and Brook Trout (Salvelinus fontinalis). 3179 12