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)

Two sisters who presented with diffuse hypoplasia of pulmonary arteries, relative hypoplasia of ascending aorta, obstructive uropathy, bilateral ureteral reflux, and hydronephrosis, are described. The subsequent course was characterized by progressive and gradual onset of right heart failure, failure to thrive, chronic malabsorption and systemic hypertension. The syndrome which appears to be transmitted by autosomal recessive inheritance can possibly represent a generalized hypoplasia and growth failure of a part or the entire arterial system. Peripheral pulmonary stenosis can occur as an isolated lesion or in association with other congenital cardiac anomalies, as well as in rubella syndrome and the syndrome of supravalvular aortic stenosis. This communication reports two siblings with a hitherto unreported combination of hypoplastic pulmonary arteries, and aorta with identical genito-urinary tract abnormalities.
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PMID:Hypoplastic pulmonary arteries and aorta with obstructive uropathy in 2 siblings. 671 10

Pulmonary arterial hypertension is common in patients with SSc. Fig. 1 shows the diagnostic and therapeutic approach to PAH in SSc. Doppler echocardiography may suggest the diagnosis, but RHC is necessary to confirm PAH and to measure vasoreactivity. Therapy is directed at the underlying connective tissue disease. Vasoreactive patients often benefit from therapy with high-dose calcium-channel [figure: see text] blockers, but most patients are not vasoreactive. Intravenous epoprostenol and oral endothelin-1 receptor antagonists improve hemodynamic measurements and symptoms in SSc-associated PAH. The therapy of right ventricular failure is focused on vasodilators, inotropes, and diuretics with careful attention to avoiding systemic hypotension. The scleroderma pulmonary-renal syndrome and the scleroderma renal crisis are distinct syndromes with different clinical presentations, histopathologic manifestations, treatments, and outcomes. The scleroderma pulmonary renal syndrome is an autoimmune vasculitis of kidney and lung associated with normal blood pressure. Treatment is supportive, and prognosis is dismal. In contrast, scleroderma renal crisis is associated with systemic hypertension, onion skinning of afferent arterioles, and response to ACE inhibition and renal replacement therapy. Pericardial effusions are common but only occasionally lead to tamponade. Esophageal dysmotility is often associated with aspiration, leading to pulmonary fibrosis, pneumonia, or ARDS. Diffuse bowel involvement may result in pseudo-obstruction, bacterial overgrowth, or malabsorption. Prokinetic agents, antibiotics, and parenteral nutrition may be required.
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PMID:Life-threatening complications of systemic sclerosis. 1241 43

The lecture outlines the pathogenesis, clinic characteristics, diagnosis and treatment of hydropic-ascitic syndrome (HAS) associated with the violation of absorption and exudation of protein in the small intestine. At absorption violation in patients we can find not only HAS also we can find there chronic diarrhea, violation of trophics. Increased exudation of plasma protein in bowel lumen develops at inherent violation of patency of lymph vessels (limfangiektase), blockade of lymphatic apparatus of the intestines, with tuberculosis, amyloidosis, sarcoidosis, retroperitonealnom fibrosis, endometriosis, Uippl disease and tumor infiltration of lymphatic system and mesentery. Secondary enteropatiya with protein loss (EPL) is possible in patients with constrictiv perikardite and right ventricular failure of various etiology. Establishment of correct diagnosis with the help of HAS enterogene biopsy of small intestine mucosa, coloring amyloid in biopsy sampling and PAS-positive inclusions, immunological tests for celiac disease and heavy chains - alpha. In patients with chronic diarrhea and malabsorption symptoms most likely cause of the HAS is celiac. In the absence of data for celiac disease should be kept in mind the small bowel disease chronic lymphoproliferative diseases. Treatment depends on basic disease. Good effect of providing enteral nutrition. Disorders of water-electrolyte exchange eliminates intravenous glucose-electrolyte solutions. The main method of removing gipoproteinemy when EPL was prolonged intravenous proteincontents solutions and temporary use of corticosteroids.
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PMID:[Diagnosis and treatment of hydropic-ascitic syndrome in patients with bowel pathology]. 2020 12

Background. Wernicke's encephalopathy (WE) is an acute neurological disorder resulting from thiamine deficiency. It is mainly related to alcohol abuse but it can be associated with other conditions such as gastrointestinal disorders. This vitamin deficiency can also present with cardiovascular symptoms, called "wet beriberi." Association with folate deficit worsens the clinical picture. Subject. A 70-year-old man with gastric phytobezoar presented with gait instability, dyspnoea, chest pain associated with right heart failure and pericarditis, and folate deficiency. Furosemide was administered and cardiac symptoms improved but he soon developed vertiginous syndrome, nystagmus, diplopia, dysmetria, and sensitive and motor deficit in all four limbs with areflexia. Results. A cerebral magnetic resonance imaging (MRI) showed typical findings of WE. He was immediately treated with thiamine. Neurological symptoms improved in a few days and abnormal signals disappeared in a follow-up MRI two weeks later. Conclusion. Patients with malabsorption due to gastrointestinal disorders have an increased risk of thiamine deficiency, and folate deficiency can make this vitamin malabsorption worse. An established deficiency mainly shows neurological symptoms, WE, or rarely cardiovascular symptoms, wet beriberi. Early vitamin treatment in symptomatic patients improves prognosis. We recommend administration of prophylactic multivitamins supplements in patients at risk as routine clinical practice.
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PMID:Wernicke's Encephalopathy, Wet Beriberi, and Polyneuropathy in a Patient with Folate and Thiamine Deficiency Related to Gastric Phytobezoar. 2669 47