Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Notwithstanding the legalization of abortions because of social indications, acute renal insufficiency after septic and criminal abortions still constitutes a high percentage of cases to be treated in the dialysis department. This article reports on 26 cases of acute renal insufficiency after criminal or septic abortions and on their complications. All cases were characterized by a marked hyperthermia for 2-4 days, marked hyperleucocystosis, early onset of anemia with intravascualr hemolysis and protracted hypotonia. Early introduction of exchange blood transfusion decreased the signs of anemia and stopped the development of intravascular hemolysis, but did not change in any significant way the course of acute renal insufficiency. In the study presented here, 4 women deceased within 2-3 hours after admission; in conclusion, treatment was unsuccessful in 16 cases, and lethal exit occurred in 10 cases. Treatment was successful in 5 out of 14 cases after criminal abortion, and in 11 cases after septic abortion. Better results were observed in those patients where the proper diuretic therapy and exchange blood transfusions or dialysis were undertaken in the first 3 days after abortion. That is why it is recommended to transfer patients with acute renal insufficiency subsequent to criminal or septic abortion to the dialysis department in the first 24 to 48 hours after abortion. (Author's modified)
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PMID:[Acute renal insufficiency after criminal and septic abortion]. 54 51

This is a case report of juvenile gastrointestinal polyposis involving the gastrointestinal system from the stomach to the rectum. Only few cases have been reported and extra-intestinal manifestations of this syndrome include macrocephaly, hepatosplenomegaly, hypotonia, clubbing of fingers, anemia and protein-losing enteropathy. The disease usually has a poor prognosis, and the children rarely live more than 2 years.
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PMID:Infantile Cronkhite-Canada syndrome?--Case report. 132 40

A 2-year-old boy suffered aphasia, hypotonia, dystonia, and loss of activity and spontaneous speech during an active stage of juvenile rheumatoid arthritis with pericarditis, fever, anemia, and a high antinuclear antibody titer. These neurologic signs slowly improved with corticosteroid treatment but fluctuated over 1 year. The neuroimaging studies revealed irregular mass lesions in the basal ganglia bilaterally mainly involving the globus pallidus. They gradually decreased in size and almost disappeared after 1 year. A stereotactic brain biopsy revealed a slight proliferation of astrocytes. Chorioretinitis was also observed during the clinical course. A chronic inflammatory process involving cerebral vessels was suspected, although angiography did not demonstrate cerebral vasculitis. The possibility of central nervous system lymphoma could not be eliminated. The type of aphasia and the relation to the lesion sites are discussed.
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PMID:Basal ganglia mass lesions in juvenile rheumatoid arthritis. 205 56

Interleukin-2 is a lymphokine with documented antineoplastic influence, with not completely understood mechanism of action. The case of 46-years old patient with relapsed metastatic malignant melanoma treated with constant-infusion of rIL-2 is described. 9-month remission was achieved. During the course of treatment a lot of side effects including flu-like symptoms, hypotonia, anemia and thrombocytopenia, and also many biochemical disturbances were observed.
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PMID:[Interleukin-2 in the treatment of malignant melanoma. A case report]. 207 26

A 6 week-old boy whose mother and sister present with hereditary hemorrhagic telangiectasia (HHT) presented suddenly with listlessness, hypotonia, and acute anemia. Cerebrospinal fluid was grossly hemorrhagic. Brain CT scan was compatible with subarachnoid and intracerebral hemorrhage. Operative investigation diagnosed a ruptured aneurysm of one branch of the right middle cerebral artery. A large clot was removed from the right frontal lobe. The ruptured artery was clipped. Further cerebral and abdominal angiographies did not show other aneurysms. The infant died 18 days later, with bilateral subdural hematoma. The family history and review of the literature suggest that the rupture of a cerebral aneurysm in this infant may have been an early manifestation of HHT. Brain CT scan study seems mandatory in every infant born to a mother with HHT.
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PMID:[Rendu Osler disease revealed by ruptured cerebral arterial aneurysm in an infant]. 208 50

Functional methionine synthase deficiency is generally characterized by homocystinuria and hypomethioninemia in the absence of methylmalonic aciduria. Patients are divided into two classes, cblE and cblG, on the basis of complementation analysis. Presentation has usually been in the first 2 years of life, but one patient came to medical attention at age 21 years with symptoms initially diagnosed as multiple sclerosis. Common findings among 11 patients (4 with cblE and 7 with cblG) have included megaloblastic anemia (all patients) and various neurological deficits including developmental retardation (10 patients), cerebral atrophy (8 patients), hypotonia (7 patients), EEG abnormalities (6 patients), and nystagmus (5 patients). Hypertonia, seizures, blindness, and ataxia were less frequent. All patients have responded to therapy with cobalamin with resolution of anemia and biochemical abnormalities; neurological deficits resolved more slowly and in some cases incompletely. Hydroxycobalamin has been more effective than cyanocobalamin. Fibroblasts from patients with cblE (5 patients) and cblG (6 patients) all showed decreased intracellular levels of methylcobalamin (MeCbl) and decreased incorporation of label from 5-methyltetrahydrofolate into macromolecules, suggesting decreased activity of the MeCbl-dependent enzyme methionine synthase. Methionine synthase specific activity in extracts of all cblE fibroblasts was normal or near-normal under standard reducing conditions; synthase specific activity in extracts of 5 cblG patients was low but was high in a 6th patient measured in another laboratory. Thus, there is heterogeneity among patients with functional methionine synthase deficiency both in clinical presentation and in the results of biochemical studies of cultured cells.
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PMID:Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. 268 21

This is a report of a case of juvenile gastrointestinal polyposis consisting of widespread juvenile polyps encountered from the stomach into the rectum. Only few cases have been reported, and extra intestinal manifestations include clubbing of fingers, macrocephaly, hypotonia, hepatosplenomegaly, anemia, and protein-losing enteropathy. The outcome is usually dismal, the children barely becoming older than 2 years. Modern fibreoptic endoscopy with polypectomies performed via the upper and lower gastrointestinal intestinal tracts and via a midbowel ileostomy may offer a viable form of management.
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PMID:Juvenile gastrointestinal polyposis or the infantile Cronkhite-Canada syndrome. 379 50

21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman's syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient developed erythroleukaemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only one child exceeded the 3rd centile for height, and growth retardation was particularly evident in the older patients. All had skeletal abnormalities or delayed skeletal maturation, or both. Metaphyseal dyschondroplasia affected 13 of the older patients and was associated with skeletal deformities. Eight of 9 children under 2 1/2 years had rib abnormalities. Respiratory function tests in children under 2 years demonstrated reduced thoracic gas volume and chest wall compliance. Older patients had reduced forced expiratory volume and forced vital capacity. Neurological assessment showed developmental retardation or reduced IQ assessments, or both, in 85% of patients studied. Other neurological abnormalities included hypotonia, deafness, and retinitis pigmentosa. Neonatal problems had been present in 16 (80%) of the patients and 5 were of low birthweights. Hepatomegaly with biochemical evidence of liver involvement occurred in the younger patients and resolved with age. Other associated features included dental abnormalities, renal dysfunction, an icthyotic maculopapular rash in 13 (65%), delayed puberty, diabetes mellitus, and various dysmorphic features. These findings stress the diverse manifestations of the syndrome and extend knowledge on a number of aspects. Sibship segregation ratios support an autosomal mode of inheritance and an hypothesis for the pathophysiological basis of this syndrome is advanced.
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PMID:Shwachman's syndrome. A review of 21 cases. 743 69

Massive fetomaternal haemorrhage (FMH) occurs in 0.12 to 0.5% of pregnancies. It is most often spontaneous and involves uncomplicated near-term pregnancies. It causes fetal anaemia, with or without fetal distress and hydrops fetalis. To our knowledge only one paper has reported a neurological complication (hemiplegia). We describe one case of FMH (maximal Kleihauer test = 6.5%) at 28 weeks gestation, which was spontaneous, reversible, associated with sinusoidal fetal heart rare (FHR) and hydrops fetalis; and complicated by an intraventricular antenatal haemorrhage at 30 weeks gestation. Echographic abnormalities decreased. The infant was born at 40 weeks gestation. Clinical examination was normal during the first week of life. At the age of 4 1/2 months, examination showed axial hypotonia and moderated dilatation of intracerebral lateral ventricules without any other brain damage. At the age of 24 months, the child had retarded walking and hypotonia. The outcome was spontaneously favourable with disappearance in utero of the intraventricular haemorrhage (HIV), without hydrocephalia or ischaemic lesions. Three cases of similar FMH have been reported but none of them described cerebral complications. Intrauterine intravascular transfusion should be proposed early. No single pathophysiological mechanism of FMH has been universally accepted and there is no aetiological treatment. The risk of recurrence of FMH in later pregnancies requires careful follow-up.
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PMID:[Fetal cerebral accident due to massive fetomaternal hemorrhage. A case report]. 749 46

A male infant infected in utero with EBV clinically presented after birth with dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas, metaphysis of the long bones, anemia, hyperbilirubinemia and elevated serum transaminases, lymphocytosis and thrombocytopenia. Malformations were absent. Specific serologic studies suggested congenital EBV infection in the newborn infant and primary EBV infection in the mother. Other known congenital infections could be excluded.
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PMID:[Congenital Epstein-Barr virus infection]. 839 41


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