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)

Satoyoshi syndrome (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and skeletal abnormalities mimicking a skeletal dysplasia. In this report, we describe a Caucasian 12-year-old girl that presented with characteristic manifestations, including alopecia, muscle cramps, and short stature with onset at age 7. Prednisone 60 mg/m(2) every other day and amytriptiline 25 mg QD were administered. After 2 months, alopecia had significantly improved and muscle cramps had almost disappeared, so that glucocorticoid treatment was tapered. Follow-up, 9 months later, showed a normal looking and asymptomatic girl.
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PMID:Satoyoshi syndrome in a Caucasian girl improved with glucocorticoids--a clinical report. 1260 41

This study was aimed at determining the effect of raw full-fat soybean in the digestion/absorption of broilers and to evaluate the role of soybean agglutinin (SBA) in the pathogenesis of the runting and stunting syndrome of broilers. Six broiler groups were fed with six experimental diets for 42 days in which the defatted soybean meal of the basal diet was substituted with increasing raw full-fat soybean percentages ranging from 0 to 100%. The results suggested that SBA included in the raw full-fat soybean can play a role in the pathogenesis of the runting and stunting syndrome in broilers since binding and incorporation of SBA to enterocytes were associated with hyperplasia and dysplasia of the intestinal epithelium, as suggested by the progressive increases (P < 0.001) of mitosis/crypt in the duodenum and in the midintestine, as well as by intestinal villi atrophy (P < 0.001) in the duodenum and the midintestine. Indigestion and malabsorption of proteins induced progressive low weight gain (P < 0.001) up to 50% with 100% of raw full-fat soybean in the diet at 42 days. Xanthophylls in serum and skin yellowness were enhanced linearly in the broilers fed 42 days with increasing percentages of raw full-fat soybean in the diet. Increased xanthophylls absorption and decreased protein absorption can be caused by pathological changes in the epithelial intestine triggered by SBA binding and internalization.
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PMID:The effect of raw full-fat soybean and its lectin on the nutrition and pigmentation of broilers. 1537 12

Celiac disease is a genetic disorder, presenting with malabsorption-related problems because of mucosal damage after ingestion of gluten. The only known effective treatment is a gluten-free diet. Early diagnosis and treatment are essential in preventing complications due to malabsorption. Here we report the case of an elderly patient with a fifteen-year history of diarrhea, diagnosed with celiac disease, who had developed several complications due to malabsorption such as anemia, electrolyte imbalance and osteoporosis. We believe that late diagnosis of celiac disease had played a great role in the development of complications. Moreover, celiac disease poses an increased risk for all types of malignancies. Our patient also had concurrent plasma cell dyscrasia, but did not fulfil the criteria for diagnosis of multiple myeloma.
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PMID:Complications due to late diagnosis of celiac disease with co-existing plasma cell dyscrasia in an elderly patient. 1660 40

A 17-year-old boy had a 3-year history of diabetes mellitus, malabsorption syndrome, and skin changes consisting of induration, hyperpigmentation, and hypertrichosis on the anterior aspect of both thighs, lower abdomen, and scrotum. Physical examination found hypogonadism, hepatomegaly, gynecomastia, growth retardation, and ankle edema. There was no neuropathy or plasma cell dyscrasia. However, the characteristic skin changes and the combination of symptoms suggest polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome. This is a rare multisystemic disorder of obscure pathogenesis and no conspicuous heredity. Overproduction of vascular endothelial growth factor is thought to cause microangiopathy, neovascularization, and accelerated vasopermeability causing the multiorgan deterioration. Cyclophosphamid cytostatic therapy seems beneficial.
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PMID:POEMS in childhood. 1665 Feb 24

Copper deficiency is a recognized but often overlooked cause of anemia and neutropenia. We began checking serum copper levels on patients referred for evaluation for unexplained anemia and neutropenia or myelodysplasia. Eight patients were identified as copper deficient (serum copper less than 70 microg/dL). The anemia was normochromic and normocytic in seven patients. Neutropenia was present in seven patients. Seven patients had been referred for evaluation of myelodysplasia. Three were seen for consideration for allogenic stem cell transplant. Five patients had concomitant peripheral neurological symptoms. Seven patients were treated with oral copper gluconate. All treated patients demonstrated a hematological response; seven had a complete remission. The improvement in anemia and neutropenia was rapid with normalization of blood counts within three to four weeks. In one patient, normalization of the underlying marrow dysplasia was demonstrated by bone marrow histology eight months after copper replacement. The cause of copper deficiency was felt to be gastrointestinal malabsorption in five of our patients. We conclude that copper deficiency should be considered in all patients with unexplained anemia and neutropenia or myelodysplasia.
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PMID:Copper deficiency causes reversible myelodysplasia. 1772 2

Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. To date, no epidemiological data are available, however, the prevalence can be estimated at around 1/50,000-100,000 live births in Western Europe. The prevalence seems higher in areas with high degree of consanguinity and in patients of Arabic origin. Infants develop within the first days after birth a watery diarrhea persistent in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal rectal or esophageal atresia. IED is thought to be related to abnormal enterocytes development and/or differentiation. Nonspecific punctuated keratitis was reported in more than 60% of patients. Histology shows various degree of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium with disorganization of surface enterocytes with focal crowding, resembling tufts. Several associated specific features were reported, including abnormal deposition of laminin and heparan sulfate proteoglycan (HSPG) in the basement membrane, increased expression of desmoglein and ultrastructural changes in the desmosomes, and abnormal distribution of alpha2beta1 integrin adhesion molecules. One model of transgenic mice in which the gene encoding the transcription factor Elf3 is disrupted have morphologic features resembling IED. Parental consanguinity and/or affected siblings suggest an autosomal recessive transmission but the causative gene(s) have not been yet identified making prenatal diagnosis unavailable. Some infants have a milder phenotype than others but in most patients, the severity of the intestinal malabsorption even with enteral feeding make them totally dependent on daily long-term parenteral nutrition with a subsequent risk of complications. IED becomes an indication for intestinal transplantation, while timing of referral for it is crucial before the onset of severe complications.
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PMID:Intestinal epithelial dysplasia (tufting enteropathy). 1744 33

We present a case of pancytopenia in a 9-month-old infant with total parenteral nutrition (TPN) dependence due to short bowel syndrome. Bone marrow examination revealed left-shifted myeloid maturation, erythroid and myeloid dysplasia with normal iron stores. Serum copper level was 2 microm/dl (normal range 90-190 mcg/dl). After supplementation, copper levels normalized at 143 mcg/dl, and the macrocytic anemia, neutropenia, and thrombocytopenia resolved. Copper deficiency should be considered in the differential diagnosis of cytopenias and myelodsyplasia, particularly in the growing number of pediatric patients with TPN dependency or malabsorption.
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PMID:Pancytopenia with myelodysplasia due to copper deficiency. 1862 12

Shwachman-Diamond syndrome is a rare autosomal recessive disorder caused by mutations in the SBDS gene. The cardinal symptoms arise from exocrine pancreatic insufficiency and bone marrow dysfunction. These lead to malabsorption and haematological abnormalities, susceptibility to infections and to increased risk of leukaemia. Skeletal involvement presents as growth failure, metaphyseal dysplasia and osteoporosis. The majority of patients also have liver dysfunction, learning difficulties and oral and dental problems. Although the disease typically presents in early childhood, phenotypic features change over time and the diagnosis becomes more challenging.
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PMID:[Shwachman-Diamond syndrome--a diagnostic challenge]. 2080 90

Satoyoshi syndrome is a rare disorder of unknown case characterized by progressive painful intermittent muscle spasms, alopecia, malabsorption amenorrhea and skeletal abnormalities mimicking a skeletal dysplasia.
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PMID:[Satoyoshi syndrome]. 2130 Oct 38

Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal dysplasia and variable additional features including predisposition to cancer, anemia, immunodeficiency, and gastrointestinal malabsorption and Hirschsprung's disease. Both are caused by mutations in the untranslated RMRP gene, which forms the RNA subunit of the RNase MRP complex. This complex is involved in the ribosome assembly by cleavage of 5.8S rRNA, cell cycle control by Cyclin B2 mRNA cleavage at the end of mitosis, processing the mitochondrial RNA, and forming a complex with hTERT suggesting a possible involvement in expression regulation by siRNA synthesis. The degree of skeletal dysplasia correlates mainly with the rRNA cleavage activity, whereas significantly diminished mRNA cleavage activity is a prerequisite for immunodeficiency. Thus, the clinical phenotype emerges in most cases of the combined effect on the respective effect on RNase MRP function.
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PMID:The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 2139 80


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