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)

Radiographically detectable complications in 35 children after bone marrow transplant are reviewed. These complications are most frequently due to infection, chemoradiotherapeutic toxicity, and graft versus host disease (a transplant rejection phenomenon peculiar to bone marrow transplant patients). The pulmonary complications within the first 2 months are secondary to a form of interstitial lung disease. Interstitial lung disease has a strong correlation with graft versus host disease. Extrapulmonary visceral complications include hepatosplenomegaly, nephromegaly, and hemorrhagic cystitis. These are due to graft versus host disease, radiation, and chemotherapeutic toxicities, respectively. Sinusitis, cerebral atrophy, and intracerebral hematomas are less frequent complications. Osteoporosis due to steroids is the single most important osseous complication.
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PMID:Radiographic manifestations of bone marrow transplantation in children. 3 66

A 30-year-old man complained of high fever, resistant to antibiotics, and progressive loss of strength for five weeks. The peripheral blood showed pancytopenia (leucocytes 2200/microliters, platelets 45,000/microliters, haemoglobin 10.7 g/dl). There was also hepatosplenomegaly, abdominal lymph node enlargement, pleural and pericardial effusions and slight excess of lymphocytes in the cerebrospinal fluid. Histological examination of the bone marrow suggested a small-cell pleomorphic T-cell lymphoma, but Hodgkin's disease was also considered. Splenectomy was performed to confirm the diagnosis and treat the pancytopenia. The blood count rapidly returned to normal and the suggestion of Hodgkin's disease was excluded. Intensive chemotherapy (BMFT-ALL protocol) was followed by regression of nearly all the abnormalities, but marrow infiltration persisted. This treatment was discontinued after phase II of induction. After an intercurrent cytomegalovirus infection maintenance treatment with alpha-interferon (up to 5 million units daily) was started. The partial remission remained stable for 22 months. The lymphoma then relapsed but was held in check by further chemotherapy (Dexa-PAMB protocol). For the past 11 months the patient has remained in stable partial remission on treatment with alpha-interferon (3 million units every other day). Frequent infections (sinusitis, diarrhoea, abscess) require close supervision.
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PMID:[Pleomorphic T-cell lymphoma. The diagnostic problems, therapeutic possibilities and infection-induced complications]. 768 64

Human immunodeficiency virus (HIV) infection is one of the most widespread diseases in the world. By the end of 1995, 800,000 HIV infected persons were suspected in Thailand, although the reported number of symptomatic HIV patients was only 13,267 and the number of cases of acquired immunodeficiency syndrome (AIDS) was 31,439. Approximately 5.2% of AIDS patients are cases of paediatric AIDS, contracted mostly by perinatal transmission and with a 25% vertical transmission rate. In a study of paediatric AIDS patients in the Children's Hospital, Thailand, from 1992 to 1995, the five most common clinical manifestations were hepatosplenomegaly (82.85%), persistent pneumonia (64.4%), oral candidiasis (59.6%), chronic diarrhoea (58.4%) and failure to thrive (51.2%). In addition to oral candidiasis, other ENT (ear nose-throat) presentations were lymphadenopathy (41.6%), repeated upper respiratory tract infection (39.5%), otitis media (18.4%), parotitis (5.2%) and sinusitis (0.8%).
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PMID:AIDS in ENT in children. 972 25

Chronic cough is caused by a wide variety of disease conditions, including asthma, rhino-sinusitis and gastro-oesophageal reflux. We describe the case of a 42-year-old man with hypereosinophilic syndrome presenting with chronic dry cough. The cough did not respond to inhaled corticosteroid or leucotriene receptor antagonists. Hepatosplenomegaly was noted and the patient became anaemic and thrombocytopenic. He was refractory to treatment with hydroxyurea and interferon-alpha. Administration of imatinib resulted in complete resolution of eosinophilia and cough, without the use of anti-asthma drugs. Analysis of RNA from this patient demonstrated expression of the Fip1-like 1/platelet-derived growth factor receptor-alpha (FIP1L1-PDGFRA) fusion gene. The myeloproliferative variant of hypereosinophilic syndrome may cause chronic intractable cough, and a trial of imatinib treatment may be warranted.
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PMID:A case of hypereosinophilic syndrome presenting with chronic cough successfully treated with imatinib. 1919 29

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 microg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 microg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS VI, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. The disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation. Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive. In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. Before enzyme replacement therapy (ERT) with galsulfase (Naglazyme), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile. Prognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.
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PMID:Mucopolysaccharidosis VI. 2038 7