Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Juvenile dermatitis herpetiformis occurred in a 20-month-old girl. She had granular lgA, C3, and fibrin bound to the basement membrane zone of the skin by direct immunofluorescence and negative serum antibodies against the skin on indirect immunofluorescence. The HLA typing of peripheral lymphocytes was A1, Aw30, B8, Bw51 without clinical evidence of malabsorption syndrome. A rapid improvement was observed on dapsone therapy. These findings strongly suggest that juvenile dermatitis hepetiformis is a disease entity different from chronic bullous dermatosis of childhood.
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PMID:Juvenile dermatitis herpetiformis. 37 40

In this 54 year old woman with celiac disease, osteomalacia developed while she was on a gluten-free diet which had caused regression of her steatorrhea. She was not responsive to large doses of parenterally administered dihydrotachysterol and calcium, but she was responsive to the oral administration of 25-hydroxyvitamin D3 (25-OHD3). The data suggest that 25-OHD3 is the treatment of choice for patients with vitamin D deficiency due to intestinal malabsorption.
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PMID:Osteomalacia and celiac disease: response to 25-hydroxyvitamin D. 74 23

A young woman presented a mixed congenital and familial immunodeficiency syndrome consisting in an absence of IgA and lowered levels of IgG and IgM, with a defect in cellular immunity. She had a mild malabsorption syndrome with slight alterations of the jejunal mucosa. Non-caseating tuberculoid granulomata were found in skin lesions, in lymph nodes and in the spleen. At age 27 the patient died of a neurological disease of 4 months duration. Autopsy revealed a very widespread demyelinating process involving mainly the right cerebellar hemisphere but also most of the pons and left cerebellum, with the typical morphologic characters of PML. In the hemispheres lesions were limited to microscopical "microglial nodules" with discrete demyelination. A review of 86 published cases of PML revealed 9 other cases in which lesions showed a strong predilection for the subtentorial territories. This sampling allows for tha assumption that some 11% of the cases of PML have this particular lesion distribution. Other pertinent features of this case are briefly discussed.
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PMID:[Progressive multifocal leucoencephalopathy. Observation with predominant pontocerebellar lesions and association with congenital immune deficiency]. 87 53

Pellagra due to malnutrition occurred in an Ottawa women in 1973. She was given a normal diet with supplements of riboflavin, thiamine, niacin and ascorbic acid. The clinical response was striking. Although pellagra is still common in some parts of the world, it is now rare in North America. The disease may occur secondary to malnutrition or malabsorption; inborn errors of metabolism or transport, as in Hartnup disease; deviation of precursors of niacin, as in carcinoid syndrome; or competitive inhibition of niacin incorporation into nicotinamide-adenine dinucleotide, as with administration of isoniazid.
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PMID:Pellagra. 97 66

A case of glucose-galactose malabsorption in an 18-month-old Saudi girl is presented. She had associated bilateral renal stones with impaired renal function. Dietary therapy improved her malabsorption and the renal stones were cleared by extracorporeal shortwave lithotripsy.
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PMID:Glucose-galactose malabsorption with renal stones in a Saudi child. 128 51

The case of a young woman from Guadeloupe developing severe megaloblastic anemia is reported. She presented with fever and hemolysis (she had heterozygotic beta-thalassemia) after a six month history of diarrhea. She was shown to have folate deficiency, steatorrhea, vitamin K and B12 malabsorption. She responded well to intravenous folinic acid and tetracyclines. Diagnosis was based on the following criteria: a) no other cause of malabsorption was found despite a comprehensive inquiry, b) the pattern of the illness corresponded to the definition of disease. Three particular aspects are outlined: the acute onset, malabsorption of vitamin B12 requiring prolonged and combined treatment, and the unusual place in which the disease was contracted.
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PMID:[Tropical sprue revealed by severe anemia in a woman from Guadeloupe]. 158 43

A case of hypobetalipoproteinemia is described; a 16-year-old girl had been suffering for nearly 2 years from diffuse abdominal pain. The only clinical features were liver steatosis, slightly increased amino transferases and an incipient polyneuropathy. No sign of malabsorption or gastrointestinal disease was found. She had extremely low levels of cholesterol and triacylglycerol in her serum, slightly decreased serum phospholipids and normal HDL-cholesterol levels. Apolipoprotein B-100 was approx. 8% of normal, whereas B-48 was present at essentially normal levels. Electron microscopy of lipoprotein particles showed normal morphology of LDL. Examination of close relatives showed no abnormalities. Southern blots revealed no major deletions or rearrangements at the genomic level. Although rare, a- and hypobetalipoproteinemia should be considered as possible etiologies in patients with unexplained steatosis in the liver.
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PMID:Liver steatosis in hypobetalipoproteinemia. A case report. 191 73

A case of a 18-year female patient is presented. The patient suffered from certain symptoms of malabsorption syndrome. She was also retarded sexually. Celiac disease was diagnosed according to ESPGAN criteria. Gluten -free diet produced body weight increase, pain relief, improved well-being and normal menstruation.
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PMID:[Delayed puberty in an 18-year-old female patient with late diagnosis of celiac disease]. 209 48

Angioimmunoblastic lymphadenopathy (AILD), first discovered in the 70's, is an infrequent disease which generally proves fatal within a short time. It is characterized by lymphadenopathies, hepatosplenomegaly, fever and rash. The most frequent laboratory findings are: anemia, leukocytosis with lymphopenia and non specific hypergammaglobulinemia. In spite of being considered a non malignant disease, it produces important immunity disorders which predispose the patient to serious infections, frequently fatal. In the course of time patients are likely to develop malignant lymphomas or other types of tumors. We describe a ganglionar proliferation and general symptoms in a patient who had been diagnosed as AILD by ganglionar biopsy. She was treated with corticosteroids during 8 months after which she had a complete recovery. Three months later the patient was readmitted with enterrorhagias and clear deterioration of her general condition. Tests showed the existence of a colon tumor and absence of adenomegaly in the areas previously affected by AILD. A colon surgery was carried out and a specimen examined. The anatomopathologic examination confirmed the existence of an immunoblastic lymphoma infiltrating the regional ganglionar area. Colon lymphomas constitute only 4% of all colon tumors; they are related to chronic gastrointestinal disease such as Crohn disease, ulcerative colitis, malabsorption syndromes, tumors and others. We conclude that in this patient AILD and prednisone administration constituted favoring factors for the development of an extranodal lymphoma.
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PMID:[Angioimmunoblastic lymphadenopathy and colonic lymphoma]. 213 Feb 46

A 66 year old female with a long history of recurrent pulmonary infection presented with a full-blown malabsorption syndrome. She was found to be suffering from acquired immunodeficiency. She later developed non-Hodgkin's lymphoma of the cervical lymph nodes. The possible relationships between immunodeficiency, malabsorption and lymphoma are discussed.
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PMID:Acquired immunodeficiency, malabsorption and lymphoma. 234 81


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