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

Histoplasmosis is caused by the dimorphic fungus, Histoplasma capsulatum. The disease spectrum varies from a mild respiratory infection to a lethal, disseminated form. Involvement of any part of the gastrointestinal tract may occur with the disseminated form, and symptoms reflect that portion involved. A case of malabsorption syndrome occurring during the course of disseminated histoplasmosis is reported, and the literature of gastrointestinal histoplasmosis is reviewed.
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PMID:Malabsorption syndrome occurring in the course of disseminated histoplasmosis: case report and review of gastrointestinal histoplasmosis. 42 73

A previously undescribed fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys occurred in sibs. They both presented during early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end-stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal.
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PMID:New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems. 144 88

In this paper, a cutaneous alternariosis is described. This is a strange opportunist infection with less than 100 cases. The patient was not VIH although inmunocompromised due to several factors: Malabsorption Syndrome, megaloblastic anemia secondary to gastrectomy and distal pancreatomy with gastrodigiunostomia due to gastric adenocarcinoma four years ago; splenectomied in the same operation, long treatment with hydantoin, and corticosteroids. The patient was managed in the internal medicine unit due to a problematic respiratory infection with cardiac rhythm disorder and progressive debility in lower limbs, together with cutaneous lesions in which "alternaria sp" was isolated by culture. After beginning treatment with oral itraconazole, his evolution was excellent. The main interest consists in the rareness and the original presentation of the cutaneous alternariosis in this case.
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PMID:[Cutaneous alternariosis and its diagnosis in an inmunocompromised patient]. 1654 18

Cystic fibrosis (CF) is an inherited disease, characterised by pancreatic malabsorption (with poor growth) and impaired mucociliary clearance (leading to recurrent pulmonary infection). The prognosis has markedly improved over the last 40 years. This was achieved initially by improving pancreatic enzyme supplements and more recently through drugs designed to treat pulmonary infection, reduce inflammation and enhance mucociliary clearance. The CF gene has been sequenced, allowing new therapeutic targets to be identified. Currently the greatest therapeutic challenges are to correct the biochemical defect of CF and to identify effective treatments for chronic respiratory infection. This review provides an overview of CF, the treatment strategies currently used, and new drugs undergoing clinical trials.
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PMID:Treatment strategies for cystic fibrosis: what's in the pipeline? 1940 93

Cystic fibrosis patients display multi-organ system dysfunction (e.g. pancreas, gastrointestinal tract, and lung) with pathogenesis linked to a failure of Cl- secretion from the epithelial surfaces of these organs. If unmanaged, organ dysfunction starts early and patients experience chronic respiratory infection with reduced lung function and a failure to thrive due to gastrointestinal malabsorption. Early mortality is typically caused by respiratory failure. In the past 40 years of newborn screening and improved disease management have driven the median survival up from the mid-teens to 43-53, with most of that improvement coming from earlier and more aggressive management of the symptoms. In the last decade, promising pharmacotherapies have been developed for the correction of the underlying epithelial dysfunction, namely, Cl- secretion. A new generation of systemic drugs target the mutated Cl- channels in cystic fibrosis patients and allow trafficking of the immature mutated protein to the cell membrane (correctors), restore function to the channel once in situ (potentiators), or increase protein levels in the cells (amplifiers). Restoration of channel function prior to symptom development has the potential to significantly change the trajectory of disease progression and their evidence suggests that a modest restoration of Cl- secretion may delay disease progression by decades. In this article, we review epithelial vectorial ion and fluid transport, its quantification and measurement as a marker for cystic fibrosis ion transport dysfunction, and highlight some of the recent therapies targeted at the dysfunctional ion transport of cystic fibrosis.
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PMID:Epithelial vectorial ion transport in cystic fibrosis: Dysfunction, measurement, and pharmacotherapy to target the primary deficit. 3263 2