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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In humans, poor nutrition, malabsorption and variation in cobalamin (vitamin B12) metabolic genes are associated with hematological, neurological and developmental pathologies. Cobalamin is transported from blood into tissues via the transcobalamin (TC) receptor encoded by the CD320 gene. We created mice carrying a targeted deletion of the mouse ortholog, Cd320. Knockout (KO) mice lacking this TC receptor have elevated levels of plasma methylmalonic acid and homocysteine but are otherwise healthy, viable, fertile and not anemic. To challenge the Cd320 KO mice we maintained them on a vitamin B12-deficient diet. After 5 weeks on this diet, reproductive failure develops in Cd320 KO females but not males. In vitro, homozygous Cd320 KO embryos from cobalamin-deficient Cd320 KO dams develop normally to embryonic day (E) 3.5, while in vivo, few uterine decidual implantation sites are observed at E7.5, suggesting that embryos perish around the time of implantation. Dietary restriction of vitamin B12 induces a severe macrocytic anemia in Cd320 KO mice after 10-12 months while control mice on this diet are anemia-free up to 2 years. Despite the severe anemia, cobalamin-deficient KO mice do not exhibit obvious neurological symptoms. Our results with Cd320 KO mice suggest that an alternative mechanism exists for mice to transport cobalamin independent of the Cd320 encoded receptor. Our findings with deficient diet are consistent with historical and epidemiological data suggesting that low vitamin B12 levels in humans are associated with infertility and developmental abnormalities. Our Cd320 KO mouse model is an ideal model system for studying vitamin B12 deficiency.
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PMID:Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet. 3012 50

Cystic fibrosis (CF) is an autosomal recessive genetic disorder resulting from a mutation in the gene which encodes a cellular transmembrane protein channel known as the CF transmembrane conductance regulator. Located systemically on the surface of numerous cells, these altered channels yield multisystem dysfunction. Typical manifestations seen are chronic, progressive, obstructive lung disease, pancreatic insufficiency, CF-related diabetes mellitus, malabsorption and malnutrition, liver disease, and infertility.Once considered a pediatric disorder, through developments in innovative care and therapeutic modalities, CF now spans the life continuum and has established itself as an ageless disease. Facing management of maturing-life issues, advanced practice nurses (APNs) in pediatrics now find themselves needing to collaborate with or facilitate transition of care to other APNs, such as nurse midwives and adult APNs, as well as their counterpart specialists in medicine, all while maintaining open communication with the patient, family and managing CF center.
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PMID:Cystic Fibrosis: Advancing Along the Continuum. 3052 25

Malabsorption syndromes are common in family medicine but may be overlooked because of a wide variation in presentation. Classic symptoms include diarrhea, steatorrhea, weight loss, flatulence, and postprandial abdominal pain. Nongastrointestinal manifestations can include elevated levels of liver function markers, anemia, skin conditions, infertility, and bone disease. Associated conditions include lactose intolerance, celiac disease, and exocrine pancreatic insufficiency. Testing should include screening for anemia. A standard test for lactose intolerance is the hydrogen breath test; however, formal testing typically is not required for diagnosis. The diagnosis of celiac disease depends on serologic testing, histologic findings on duodenal biopsy, or both. Patients should not restrict their diets before testing for malabsorption syndromes. If the initial evaluation is negative for celiac disease, other conditions should be considered, including nonceliac gluten sensitivity, irritable bowel syndrome, and fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs) intolerance. Therapies for patients with malabsorption syndromes involve dietary modification. A lactose-restricted diet and use of dairy substitutes are recommended for lactose intolerance. A gluten-free diet is the primary intervention for celiac disease. Pancreatic enzyme replacement therapy and replacement of fat-soluble vitamins are the primary therapies for management of exocrine pancreatic insufficiency.
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PMID:Lower Gastrointestinal Conditions: Malabsorption Syndromes. 3141 45

Infertility affects approximately 186 million people worldwide and 8-12% of couples of reproductive age. Therefore, a comprehensive diagnostic evaluation of infertility is crucial to achieving improvements in targeted prevention and treatment outcomes. The aim of this review is to explore the biochemistry of infertility in order to properly diagnose and treat infertile couples. Recent studies indicate that routine measurement of biochemical parameters reflecting thyroid dysfunction, immunological disorders, autoimmune mechanisms, insulin resistance and malabsorption of selected micro- and macronutrients are required to assess infertility. Due to the complexity of this approach, algorithmic protocols that integrate these biochemical parameters in a dynamic test environment are necessary to provide a more comprehensive diagnostic assessment and more effective treatment strategy for infertile couples.
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PMID:Biochemistry of infertility. 3244 54


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