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)

Coeliac disease is a malabsorption syndrome induced by the gluten-containing cereals leading to the damage of small intestinal mucosa. A case of a young woman is presented whose coeliac disease became overt in the puerperium. Despite strict adherence to gluten-free diet, her muscle weakness affecting several muscle regions persisted. Following a diagnostic work-up covering numerous co-disciplines, the diagnosis of myasthenia gravis was set up underlying her muscle symptoms. After the thorough review of the corresponding literature, the authors could not find any case report on the association of coeliac disease with myasthenia gravis.
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PMID:[Association of coeliac disease and myasthenia gravis]. 1678 39

Coeliac disease is an immune-mediated disorder resulting in nutrient malabsorption now thought to have a prevalence of between 1:100 and 1:200 in the UK population. Symptoms can include diarrhoea, steatorrhoea, abdominal bloating, cramps, flatulence, weight loss, weakness and fatigue. In addition to the morbidity associated with presenting symptoms, patients are also at increased risk of metabolic bone disease, enteropathy-associated T-cell lymphoma and other malignancies (gastric, oesophageal, bladder, breast, brain). There appears to be a strong genetic component to this disease. This article provides a short review of the historical, clinical and genetic aspects of this disease and highlights several findings from recent structural and molecular immunology studies. A model of the pathogenesis is proposed where the contributions of innate and adaptive immune systems are delineated and the essential dual roles of gliadin (from ingested gluten) in the initiation and maintenance of this disease are summarised. Finally, potential future therapeutic options based on this new understanding are discussed.
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PMID:The molecular basis of coeliac disease. 1682 Sep 91

Severe thiamine (vitamin B-1) deficiency is a medical emergency that has long been recognized as a potential complication of bariatric surgery. The incidence of this rare complication is largely unknown. We describe a super-obese male patient with extreme lower limb weakness 3 months following a duodenal switch operation, occurring in association with persisting vomiting. Excessive malabsorption led to severe malnutrition, with lower limb edemas and clinical evidence of ascites and pleural effusion. Blood tests revealed low levels of albumin, hemoglobin, potassium, vitamins A, B-1, and B-6, and elevated prothrombin time. The symptoms of neuropathy improved after extensive nutritional therapy. Weight eventually stabilized following elongation of the common channel. This case report demonstrates the importance of awareness of neurological complications following bariatric surgery. These complications require urgent and vigorous therapy when they occur.
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PMID:Peripheral neuropathy and severe malnutrition following duodenal switch. 1846 30

Osteomalacia (OM) is a condition that usually is overlooked and neglected when compared with other metabolic bone disease such as osteoporosis. Presenting with a wide spectrum of nonspecific clinical, radiographic, and biochemical manifestations, OM is a treatable metabolic disease that is precisely diagnosed by anterior iliac crest bone biopsy. Clinical clues to lead one to suspect OM in the context of a diffuse bone disease include the presence of generalized bone pain affecting mainly shoulders, hips and rib cage, proximal muscle weakness, low serum calcium x phosphorus product, increased serum alkaline phosphatase, low calcium in the 24-h urine test, and low serum 25 hydroxyvitamin D. Radiographic examination may show a characteristic "erased" or "fuzzy" type of demineralization, pseudofractures, or bone deformities. OM is confined usually to elderly individuals or to those patients with intestinal malabsorption and hypophosphatemia.
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PMID:Musculoskeletal manifestations of osteomalacia. 1907 64

A 27 year-old man who presented to the hospital with progressive lower extremity weakness, developed an acute ST elevation myocardial infarction on his second hospital day. Primary angioplasty to the left anterior descending coronary artery was performed. Due to persistent dyspnea, the patient underwent a diagnostic chest computed tomography which confirmed multiple small pulmonary emboli. Laboratory analysis revealed a megaloblastic anemia with a reduced vitamin B12 level and positive titers for antibodies against intrinsic factor, establishing a diagnosis of pernicious anemia. Screening for hypercoaguable markers documented an isolated severely elevated homocysteine levels (105 mumol/l). No other significant risk factors for coronary artery disease including a family history of premature atherosclerosis were identified. This case illustrates the importance of testing for hyperhomocysteinemia as part of a workup for atherothrombotic disease, especially in patients without other significant risk factors. The severity of hyperhomocysteinemia found in our patient is unusual for patients with vitamin B12 malabsorption and raises the question of whether the widely practiced folic acid fortification in the United States may mask or even worsen vitamin B12 deficiency over time, leading to more severe cases of vitamin B12 deficiency and hyperhomocysteinemia than seen in the past.
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PMID:Acute myocardial infarction and pulmonary embolism in a young man with pernicious anemia-induced severe hyperhomocysteinemia. 1943 95

Celiac disease (CD) is manifested by a variety of clinical signs and symptoms that may begin either in childhood or adult life. Neurological symptoms without signs of malabsorption have been observed for a long time in CD. In this report, an 8-year-old girl with CD presented with rarely seen dilated cardiomyopathy and stroke. The girl was admitted with left side weakness. Her medical history indicated abdominal distention, chronic diarrhea, failure to thrive, and geophagia. On physical examination, short stature, pale skin and a grade 2 of 6 systolic murmur were detected. Muscle strength was 0/5 on the left side, and 5/5 on the right side. Coagulation examinations were normal. Tests for collagen tissue diseases were negative. Factor V Leiden and prothrombin GA20210 mutations were negative. Tandem mass spectrophotometry and blood carnitine profiles were normal. Brain magnetic resonance imaging and cerebral angiography showed an infarction area at the basal ganglia level. Examinations of serologic markers and intestinal biopsy revealed CD. We emphasize that in differential diagnosis of ischemic stroke, CD should be kept in mind.
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PMID:Stroke and dilated cardiomyopathy associated with celiac disease. 2045 70

Osteomalacia is an end-stage bone disease of chronic and severe vitamin D or phosphate depletion of any cause. Its importance has increased because of the rising incidence of vitamin D deficiency. Yet, not all cases of osteomalacia are cured by vitamin D replacement, and furthermore, not all individuals with vitamin D deficiency develop osteomalacia. Although in the past osteomalacia was commonly caused by malabsorption, nutritional deficiency now is more common. In addition, recent literature suggests that nutritional vitamin D deficiency osteomalacia follows various bariatric surgeries for morbid obesity. Bone pain, tenderness, muscle weakness, and difficulty walking are all common clinical manifestations of osteomalacia. Diagnostic work-up involves biochemical assessment of vitamin D status and may also include a transiliac bone biopsy. Treatment is based on aggressive vitamin D repletion in most cases with follow-up biopsies if patients are started on antiresorptive or anabolic agents.
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PMID:Osteomalacia as a result of vitamin D deficiency. 2252 44

Small bowel lymphomas of the extranodal type occur in the young and are characteristically associated with malabsorption syndrome. We present the case of an elderly in whom there was no malabsorption and the duodenal tumor was a gastric type marginal zone B cell lymphoma also known as gastric mucosa-associated lymphoid tissue (MALT) lymphoma. A 73-year-old woman presented to the emergency room with 2 weeks of general weakness, recurrent vomiting containing food particles and abdominal distension. She had been diagnosed with diabetic gastroparesis 4 years prior. CT of the abdomen and pelvis was suggestive of gastric outlet obstruction but no evidence of pancreatic or duodenal mass. Endoscopy and biopsy of the tumor obstructing the distal first part of the duodenum confirmed a gastric marginal MALT lymphoma. The patient's symptoms improved with radiotherapy. Gastric MALT lymphoma, an extranodal lymphoma primarily described in the stomach, can also present in the small bowel and is not associated with malabsorption.
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PMID:Gastric marginal zone B cell lymphoma of the duodenum. 2211 Apr 18

Celiac disease (CD), a malabsorption syndrome with a genetic base, is a consequence of hypersensitivity to GLUTEN-containing foods. CD can manifest with classic symptoms; however, some unusual features like osteomalacia that has become more and more rare, may be the presenting symptom. We describe here a case of osteomalacia secondary to delayed diagnosis of celiac disease. This patient complained about progressive limping, weakness, short stature, and skeletal deformities. Radiological and laboratory findings were all in favor of osteomalacia. Celiac disease was mentioned according to the history of subtle intermittent diarrhea, abdominal discomfort and confirmed with intestinal biopsy and detection of specific autoantibodies. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and other trace elements. In conclusion, this case affirms that chronic celiac disease especially untreated one, can lead to irreversible complications like skeletal deformities and short stature.
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PMID:Osteomalacia can still be a point of attention to celiac disease. 2246 22

Osteomalacia is an end-stage bone disease of chronic and severe vitamin D or phosphate depletion of any cause. Its importance has increased because of the rising incidence of vitamin D deficiency. Yet, not all cases of osteomalacia are cured by vitamin D replacement, and furthermore, not all individuals with vitamin D deficiency develop osteomalacia. Although in the past osteomalacia was commonly caused by malabsorption, nutritional deficiency now is more common. In addition, recent literature suggests that nutritional vitamin D deficiency osteomalacia follows various bariatric surgeries for morbid obesity. Bone pain, tenderness, muscle weakness, and difficulty walking are all common clinical manifestations of osteomalacia. Diagnostic work-up involves biochemical assessment of vitamin D status and may also include a transiliac bone biopsy. Treatment is based on aggressive vitamin D repletion in most cases with follow-up biopsies if patients are started on antiresorptive or anabolic agents.
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PMID:Osteomalacia as a result of vitamin D deficiency. 2051 Oct 54


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