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)

Our objective was to measure maternal plasma and amniotic fluid amino acid concentrations in pregnant women diagnosed as having fetuses with gastroschisis in the second trimester of pregnancy. Twenty-one pregnant women who had fetuses with gastroschisis detected by ultrasonography (gastroschisis group) in the second trimester and 32 women who had abnormal triple screenings indicating an increased risk for Down syndrome but had healthy fetuses (control group) were enrolled in the study. Amniotic fluid was obtained by amniocentesis, and maternal plasma samples were taken simultaneously. The chromosomal analysis of the study and control groups was normal. Levels of free amino acids and non-essential amino acids were measured in plasma and amniotic fluid samples using EZ:fast kits (EZ:fast GC/FID free (physiological) amino acid kit) by gas chromatography (Focus GC AI 3000 Thermo Finnigan analyzer). The mean levels of essential amino acids (histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine, tryptophan, and valine) and non-essential amino acids (alanine, glycine, proline, and tyrosine) in amniotic fluid were found to be significantly higher in fetuses with gastroschisis than in the control group (P < 0.05). A significant positive correlation between maternal plasma and amniotic fluid concentrations of essential and nonessential amino acids was found only in the gastroschisis group (P < 0.05). The detection of significantly higher amino acid concentrations in the amniotic fluid of fetuses with a gastroschisis defect than in healthy fetuses suggests the occurrence of amino acid malabsorption or of amino acid leakage from the fetus into amniotic fluid.
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PMID:Elevated amniotic fluid amino acid levels in fetuses with gastroschisis. 1690 76

Serum immunoglobulin behaviour in some infantile diseases of immunological interest has been studied. No differences in Ig class values were observed in cases of rickets. Intestinal malabsorption was accompanied by increased IgA values, whereas other writers have reported steady or even decreased values in this disease. IgG and IgM increases are observed in virus hepatitis. In line with the majority of the literature reports, decreased IgM values were observed in mongolism.
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PMID:[Serum immunoglobulin values in some diseases of infancy]. 1734 4

Following a previous note dealing with rickets, intestinal malabsorption, virus hepatitis and mongolism, the present paper deals with serum immunoglobulin behaviour in thymomegaly, nephrosis and response to TAB vaccination. Thymomegaly was accompanied by increases in all three Ig classes, followed by normalisation of values shortly after steroid treatment. in nephrotic proteinuria, determination of glomerular selectivity via the evaluation of IgG and transferrin clearance was of assistance with respect to prognosis and therapy. Artificial antigen stimulation of healthy and mongoloid subjects with TAB vaccine was not followed by differences in Ig class behaviour; similar stimulation of full-term and immature neonates, however, showed a rapid and frank increase in immature IgM values with respect to the non-stimulated immature subject of equal age and weight.
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PMID:[Serum immunoglobulin patterns in some diseases of infancy]. 1734 5

In the present review we will try to summarize the clinical and diagnostic features of celiac disease (CD) as well as the new findings on extraintestinal manifestation. CD is an immune-mediated enteropathy caused by a permanent gluten intolerance. In the last years, the diagnosis is becoming more and more frequent because of the recognition of 'new' symptoms and associated extraintestinal manifestations. Classical CD is dominated by symptoms and sequelae of gastrointestinal malabsorption. In the 'atypical forms', the extraintestinal features usually predominate, with few or no gastrointestinal symptoms. Silent CD refers to asymptomatic patients with a positive serologic test and villous atrophy on biopsy. This form is detected by screening of high-risk individuals, or villous atrophy occasionally may be detected by endoscopy and biopsy conducted for another reason. The potential form is diagnosed in groups at risk including relatives of celiac patients, Down syndrome and autoimmune diseases. Latent CD is defined by positive serological tests but not histological changes on biopsy. These individuals are asymptomatic, but later may develop symptoms and/or histological alterations. Recognition of atypical manifestations of CD is very important because many cases can remain undiagnosed with an increased risk of long-term complications.
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PMID:Celiac disease: what's new about it? 1843 Oct 61

Celiac disease is an immune-mediated enteropathy affecting 0.5% to 1% of children and is induced by dietary gluten in susceptible individuals carrying the human leukocyte antigen DQ2 or DQ8 heterodimer. If serological screening is positive or if a patient displays suggestive symptoms, an endoscopic biopsy of the distal duodenum is required to confirm the diagnosis. Symptoms of celiac disease are often mild or absent. Overt malabsorption occurs in only 2% to 10% of children. Individuals with a higher risk of developing celiac disease, including first-degree relatives of affected patients and children with type I diabetes, Turner syndrome, Williams syndrome or Down syndrome, should be offered screening for celiac disease along with a discussion of the implications. If serological testing is negative, a high index of suspicion should remain if malabsorption, iron deficiency or osteopenia is present. Also, immunoglobulin A deficiency should be excluded. At-risk individuals should undergo serial serological screening. Lifelong adherence to a gluten-free diet is the only treatment. If left untreated, symptomatic children with celiac disease carry an increased risk of developing osteoporosis and have a greater lifetime risk of cancer. The long-term outcome of undiagnosed or untreated asymptomatic individuals is less clear.
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PMID:Practical considerations for the identification and follow-up of children with celiac disease. 1968 81

Celiac disease (CD) affects up to 1% of the general population. Classically, it manifests with intestinal symptoms (diarrhea, steatorrhea, abdominal pain or discomfort) associated with weight loss and anemia. Seizure is a rare form of presentation of CD. A 13-year-old female patient with Down syndrome was admitted to the pediatric emergency department with generalized tonicclonic seizure in addition to numbness around the mouth, paresthesias, and muscular cramping for seven days. Investigations revealed severe hypocalcemia and vitamin D deficiency, which were a consequence of malabsorption secondary to histopathologically confirmed CD. Physicians should be aware that unrecognized CD can cause severe hypocalcemia.
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PMID:Hypocalcemic seizure in an adolescent with Down syndrome: a manifestation of unrecognized celiac disease. 2438 37

Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases. It is caused by having a third copy of chromosome 21, and there exist 3 forms; Simple Trisomy 21, Translocation Trisomy and Mosaic Trisomy. Symptoms include intellectual disability/mental retardation, early onset of Alzheimer's disease and the appearance of various phenotypic features such as narrow slanted eyes, flat nose and short stature. In addition, there are other health problems throughout the body, consisting in part of cardiac defects and thyroid function abnormalities along with nutritional disorders (ie. overweight, obesity, hypercholesterolemia and deficiencies of vitamins and minerals). Those suffering DS have widespread body frame abnormalities and impaired brain development and function; the latter leading to impaired intellectual development. Many studies indicate excessive or deficient nutrient uptakes associated with making inappropriate foodstuff choices, food intolerance, (eg. celiac disease) or malabsorption. DS persons with overweight or obesity are linked with a slow metabolic rate, abnormal blood leptin concentrations and exhibit low levels of physical activity. Vitamin B group deficiencies and abnormal blood homocysteine levels decrease the rate of intellectual development in DS cases. Zinc deficiencies result in short stature, thyroid function disorders and an increased appetite caused by excessive supplementation. Scientific advances in the research and diagnosis of DS, as well as preventing any associated conditions, have significantly increased life expectancies of those with this genetic disorder. Early dietary interventions by parents or guardians of DS children afford an opportunity for decreasing the risk or delaying some of the DS associated conditions from appearing, thus beneficially impacting on their quality of life.
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PMID:Down syndrome--genetic and nutritional aspects of accompanying disorders. 2640 Jan 13

The study of human growth and skeletal development by human biologists is framed by the larger theoretical concerns regarding the underpinnings of population variation and human evolution. This unique perspective is directly relevant to the assessment of child health and well-being at the individual and group level, as well as the construction of growth charts. Environmental, behavioral (nutrition and physical activity), and disease-related factors can prevent attainment of full genetic potential for growth. Undernutrition is most often the cause of growth faltering and poor skeletal development. Disease related factors, such as malabsorption, inflammation, and immobility also have profound effects. These effects will be illustrated with examples from diseases such as cystic fibrosis, inflammatory bowel disease, and Down syndrome. The need for separate growth charts for children with genetic disorders is often controversial because of potential medical and/or nutritional complications associated with some disorders. Children with Alagille syndrome and Down syndrome will be used to illustrate the advantages and limitations of syndrome-specific charts. This overview of health and disease effects on growth and skeletal development provides insights into the plasticity of human growth and its sensitivity to overall health and well-being.
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PMID:Influence of complex childhood diseases on variation in growth and skeletal development. 2823 Feb 93


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