Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
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Psychiatric manifestations are frequently associated with pernicious anemia including depression, mania, psychosis, dementia. We report a case of a patient with vitamin B12 deficiency, who has presented severe depression with delusion and Capgras' syndrome, delusion with lability of mood and hypomania successively, during a period of two Months. Case report - Mme V., a 64-Year-old woman, was admitted to the hospital because of confusion. She had no history of psychiatric problems. She had history of diabetes, hypertension and femoral prosthesis. The red blood count revealed a normocytosis with anemia (hemoglobin=11,4 g/dl). At admission she was uncooperative, disoriented in time and presented memory and attention impairment and sleep disorders. She seemed sad and older than her real age. Facial expression and spontaneous movements were reduced, her speech and movements were very slow. She had depressed mood, guilt complex, incurability and devaluation impressions. She had a Capgras' syndrome and delusion of persecution. Her neurologic examination, cerebral scanner and EEG were postponed because of uncooperation. Further investigations confirmed anemia (hemoglobin=11,4 g/dl) and revealed vitamin B12 deficiency (52 pmol/l) and normal folate level. Antibodies to parietal cells were positive in the serum and antibodies to intrinsic factor were negative. An iron deficiency was associated (serum iron=7 micromol/l; serum ferritin concentration=24 mg/l; serum transferrin concentration=3,16 g/l). This association explained normocytocis anemia. Thyroid function, hepatic and renal tests, glycemia, TP, TCA, VS, VDRL-TPHA were normal. Vitamin B12 replacement therapy was started with hydroxycobalamin 1 000 ng/day im for 10 days and iron replacement therapy. Her mental state improved dramatically within a few days. After one week of treatment the only remaining symptoms were lability of mood, delusion of persecution, Capgras' syndrome but disappeared totally 9 days after the beginning of the treatment. A neurologic examination was possible because of cooperation. All the tendon reflexes of inferior members were absent. The plantars were in flexion and there was a left inferior member hypoesthesia. The cerebral scan and EEG were normal. Fundic biopsy, realized by fibroscopy, revealed fundic atrophia and intestinal metaplasia compatible with Biermers' disease. The iron deficiency exploration concluded diet deficiency. Mme V. appeared euphoric, her speech was very rapid with play on words and overactivity. This hypomania state totally disappeared 3 days after. Six Months after her hospitalisation, she presented an hypothyroidism (TSH=3,780; T3=1,35; T4=1,08). A thyroid hormones replacement was started and she continued to receive Monthly B12 replacement. Discussion - This case report illustrates psychiatric manifestations of Biermers' disease. The clinical arguments in favour are: white woman, more than 60 Years old, no history of psychiatric problems, atypical symptoms (confusional state with psychiatric symptoms), fluctuation of symptoms (severe depression with confusional state, delusion of persecution and Capgras' syndrome; delusion with lability of mood and hypomania), dramatic improvement after 9 days of vitamin B12 replacement therapy. The biological arguments are: anemia, vitamin B12 deficiency, normal folate level, atrophia and fundic metaplasia, positive antibodies to parietal cells in the serum, association between Biermers' disease and autoimmune disease (Haschimoto thyroidite). Psychiatric manifestations can occur in the presence of low serum B12 levels but in the absence of the other well recognized neurological and haematological abnormalities of pernicious anemia. Mental or psychological changes may precede haematological signs by Months or Years. They can be the initial symptoms or the only ones. Verbank et al. described the case of a patient with vitamin B12 deficiency in whom hypomania, paranoia and depression had been successively presented during a period of 5 Years before anemia have been developed. The case of Mme V. is similar in the succession of severe depression with delusion of persecution and Capgras' syndrome, delusion with lability of mood and hypomania, during a period of two Months. This report seems to be the first one of a sequence of several psychiatric states with pernicious anemia during a period of two Months with normocytosis anemia. To illustrate this illness we reviewed the literature regarding psychopathology associated with B12 deficiency. The most common psychiatric symptoms were depression, mania, psychotic symptoms, cognitive impairment and obsessive compulsive disorder. The neuropsychiatric severity by vitamin B12 deficiency and the therapeutic efficacy depends on the duration of signs and symptoms. Conclusion - We recommend consideration of B12 deficiency and serum B12 determinations in all the patients with organic mental disorders, atypical psychiatric symptoms and fluctuation of symptomatology. B12 levels should be evaluated with treatment resistant depressive disorders, dementia, psychosis or risk factors for malnutrition such as alcoholism or advancing age associated with neurological symptoms, anemia, malabsorption, gastrointestinal surgery, parasite infestation or strict vegetarian diet. In first intention, B12 deficiency should be researched by serum B12 determination (normal 200-950 pg/ml). Studies of methylmalonic acid and homocysteine showed that they are very sensitive functional indicators of cobalamin status especially when other evidence of cobalamin (B12) deficiency was equivocal. Measurement of methylmalonic acid (normal 73-271 nmol/l) and homocysteine (normal 5,4-13,9 micromol/l) should not replace the measurement of serum cobalamin.
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PMID:[Psychiatric manifestations of vitamin B12 deficiency: a case report]. 1502 91

Congenital short bowel syndrome (SBS) associated with malrotation and malabsorption is a very rare condition. We report on an infant girl with congenital SBS associated with malrotation and malabsorption. No polyhydraminos was noted during the regular prenatal examination. Protracted postnatal postprandial vomiting with progressive failure to thrive was noted. A laparotomy showed the small bowel was only about 20 cm in length. She eventually survived with short-term parenteral nutrition and use of oral L-glutamine supplementation. To our knowledge, this might be the shortest length of bowel loop ever reported. Currently, she is 15 months of age with a body weight of about 7 kg and good development.
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PMID:Congenital short bowel syndrome with malrotation. 1550 78

The recent identification of tissue transglutaminase (tTG) as the autoantigen for celiac disease-associated anti-endomysial antibodies (EMA) has allowed the use of rapid immunoassay to detect the presence of autoantibodies, anti-tTG, in the serum of patients. In this study, we examined the prevalence of IgG or IgA anti-tTG in sera from patients with elevated levels of IgM rheumatoid factors, which are autoantibodies reactive with the Fc portion of IgG. We report here on four cases of anti-tTG positivity for patients with elevated IgM rheumatoid factor (RF) without evidence of celiac sprue. The study population consisted of 65 patients (26 men, 39 women; mean age, 49 years; range 4 - 92 years) with elevated RF (>20 U/ml ), and 23 healthy subjects (12 men, 11 women; mean age, 46 years; range, 21 - 54 years). IgG and IgA anti- tTG levels were detected using a commercially available ELISA kit (Immuno-Biological Laboratories, Germany). Out of 65 patients, one (1.5%) and three (4.6%) patients were positive for IgG and IgA anti-tTG antibodies, respectively, and this was a higher frequency than occurred in healthy subjects (0/23). The clinical features of the four cases positive for IgG or IgA anti-tTG were as follows: The first case (female, 63 yrs) positive for IgA anti-tTG antibody suffered from rheumatoid arthritis, type II diabetes mellitus, iron deficiency anemia and gastric indigestion without symptoms of malabsorption. She denied any gluten sensitivity on her diet. Her esophagogastroduodenoscopic biopsy showed mucosal atrophy with no elongated crypts or infiltration of inflammatory cells in the lamina propria. The remaining three cases positive for anti-tTG antibodies had interstitial pneumonia, a herniated lumbar disc, and mild scoliosis, respectively. They all denied any malabsorption symptoms or gluten sensitivity. Jejunal biopsy could not be performed in all four cases.
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PMID:Tissue transglutaminase autoantibodies in patients with IgM rheumatoid factors. 1551 14

Coeliac disease is characterized by life-long gluten intolerance. There are a wide variety of clinical presentations, which range from severe diarrhoea and weight loss to asymptomatic forms. The primary treatment for coeliac disease is the removal of gluten from the diet to prevent both immediate and long-term complications. The case of 16-year-old girl with coeliac disease was presented. At the age of 2 years the patient with impaired growth and abnormal stools was suspected to have coeliac disease. She experienced symptomatic improvement on gluten-free diet, but after 3 years the treatment was discontinued. The patient denied gastrointestinal or skin problems. At the age of 14 years Raynaud's phenomenon was observed for the first time. Two years later episodes of Raynaud's phenomenon involved all fingers and toes. Body mass index (BMI) was 23.8 kg/m2. Levels of free-carnitine, tocopherol, vitamin B12 were below normal limits and homocysteine level was increased. Antiendomysial IgA, antireticulin IgA, antigliadin IgA and IgG antibodies were positive. The duodenal mucosa showed total villous atrophy. Gluten free-diet and multivitamin supplementation provided some benefit in reducing Raynaud's phenomenon. The patient's well being has improved markedly. Atypical coeliac disease is usually seen in adolescents and adults in whom features of overt malabsorption are often absent. In cases of health problems occurring in persons with history of malabsorption syndrome in childhood suspicion of coeliac disease should be heightened and appropriate evaluation undertaken.
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PMID:[Atypical celiac disease in an adolescent girl--case report]. 1575 40

A 78 year old woman had suffered ten spontaneous bone fractures, the first occurring when she was 57 years old. She is now wheel-chair bound. After 21 years, the underlying osteomalacia due to oligosymptomatic celiac disease with malabsorption was diagnosed. The treatment consists of a gluten free diet and substitution of calcium and vitamin D until there is a normalisation of calcium, vitamin D and alkaline phosphatase. Any spontaneous fracture deserves a careful search for metabolic bone disease. An elevation of alkaline phosphatase indicates osteomalacia rather than osteoporosis.
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PMID:[Ten fractures in 21 years]. 1592 67

The report deals with the case of a 10-year-old girl with chronic cystic fibrosis. She has been repeatedly treated at the hospital. She has been hospitalized due to respiratory deterioration. Cystic fibrosis is a rare disease, inherited autosomaly recessively, but is very complex in terms of diagnostic and treatment (2). The diagnosis is confirmed based on a clinical picture of the child, measure of Chloride in the sweat, chest X-ray, CT thorax, laboratory findings--genetic confirmation CFTR ( cystic fibrosis transmembrane conductance regulator) genes (3), which result in the production of hyper-viscous mucus and chloride malabsorption in the sweat glands ducts (5,6). Bronchial thickening and plugging and ring shadows suggesting bronchiectasis, segmental or lobar atelectasis are often. Computer tomography of the chest can be used to detect and localize thickening of bronchial airways walls, mucus plugging, hyperinflation and early bronchieactasiae. Pulmonary therapy: the object is to clear secretions from airways and to control infection (7). The diagnosis is originally set when she was 4 years old. She is now admitted due to a deterioration of the main disease. Day before admission in the hospital had a higher bodily temperature, cough and difficult breathing. She already treated conservatively (Ceftazidim, Ceftriakson, Kloksacillin) Since the girl is a chronic patient with bronchiectasie chronic walls of bronchi changes full of the mucus, who is not responding to conservative treatment (antibiotics), therapeutic and diagnostic flexible bronchoscopy had to be performed, resulting in a gram-negative bacteria pseudomonas aeruginosa--a typical bacteria for chronically sick C. F. patient. A pseudomonas therapy was prescribed according to the sensitive antibiogram, during which bronchoscopy was given locally on changes mucous pulmozyme and garamycin. Flexible bronchoscopy was performed as therapeutic. Local bronchoscopy findings:by aspiration of tracheo-bronchal truncus it was found hyperemia and a lot of mucous sticky secretion inside of tracheobronchal tree, especially middle lobe right side, lingual and basals part of the lungs. It was performed broncho-alveolar lavage and given steroids on the place of changed inflamed mucous membrane of the bronchi. It was also given pulmozyme to destroid mucous and make better spontaneously expectorations. Control chest x ray was performed and it was better.
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PMID:Therapeutic flexible bronchoscopy in child with cystic fibrosis. 1605 60

A 49-year-old woman who had been treated with sodium levothyroxine because of hypothyroidism after diagnosis of Hashimoto thyroiditis and total thyroidectomy for multinodular atoxic goiter was evaluated for persistent hypothyroidism despite the use of large doses of levothyroxine (600 microg/day). The patient showed signs and symptoms of hypothyroidism and her laboratory tests were: TSH of 351 microUI/mL, free thyroxine of 0.20 ng/dL, and total triiodothyronine of 27 ng/dL. She was submitted, under medical supervision, to a levothyroxine overload test with no evidence of malabsorption of the thyroid hormone. Diagnosis of factitious disorder and Munchausen syndrome leading to the pseudomalabsorption of levothyroxine was considered.
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PMID:[Pseudomalabsorption of levothyroxine: a case report]. 1618 62

Celiac disease, or gluten-sensitive enteropathy, is an immune-mediated disease of the small bowel that results in malabsorption. It classically presents with gastrointestinal symptoms including chronic diarrhea, weight loss, abdominal bloating and anorexia. It is becoming more frequently identified in asymptomatic patients with a diagnosis of deficiencies related to malabsorption of iron, folic acid, vitamin B12 and vitamin D. It is increasingly identified as a cause for early or refractory osteoporosis. Occasionally, celiac disease presents with cutaneous manifestations alone. Dermatitis herpetiformis is a well-recognized cutaneous manifestation of celiac disease. Other cutaneous manifestations include alopecia, angular stomatitis and aphthous ulcerations. Described here is a case of a 24-year-old woman who presented with intermittent urticaria and gastrointestinal complaints. She was found to have celiac disease on small-bowel biopsy. Both her gastrointestinal symptoms and urticaria resolved when she was put on a gluten-free diet, suggesting that her urticaria was a cutaneous manifestation of celiac disease.
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PMID:Chronic urticaria: a cutaneous manifestation of celiac disease. 1660 61

A 47-year-old Caucasian woman had a 3.5-year history of primary hypothyroidism treated with levothyroxine. Her levothyroxine dosage of 0.05 mg/day had been stable for the past 15 months. She was then prescribed raloxifene for prevention of osteoporosis secondary to early menopause. During the next 30 months, her levothyroxine dosage had to be gradually increased. The patient had been taking levothyroxine and raloxifene at the same time each day on an empty stomach. During the months of her levothyroxine dosage changes, however, she separated administration of levothyroxine and raloxifene by 12 hours; the patient then became hyperthyroid. Eventually, her levothyroxine needs decreased, and she returned to the same levothyroxine dosage she had taken before separating administration of the two drugs. These findings suggest that raloxifene decreased the absorption of levothyroxine when the two agents were coadministered. Assessment of causality using the Naranjo adverse drug reaction probability scale resulted in a possible association for this adverse event. Another published case report provides findings similar to our patient's experience. The possibility of a malabsorption interaction between levothyroxine and raloxifene is significant, as hypothyroidism is common among postmenopausal women-the same population that is the target of osteoporosis therapy with agents such as raloxifene. The mechanism by which raloxifene decreases levothyroxine absorption is unknown. Further investigation of this potential interaction is warranted. Until then, clinicians should be alert to the potential for an interaction between raloxifene and levothyroxine.
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PMID:Increased thyroid-stimulating hormone levels associated with concomitant administration of levothyroxine and raloxifene. 1671 42

We report the case of a 35-year-old woman with a diagnosis of coeliac disease at the age of 32 due to a severe malabsorption and flat mucosa without endomysial and tissue transglutaminase antibodies. The lack of clinical and histological improvement after 1 year of a gluten-free diet led to a diagnosis of refractory sprue. She had a good clinical response to steroids that were stopped after 3 months when she became pregnant. After delivery, she again started to complain of malabsorption with arthritis. Positivity for enterocyte autoantibodies together with a flat mucosa persistence allowed to identify a condition of autoimmune enteropathy; moreover, a rheumatological assessment gave evidence of an associated rheumatoid arthritis. Treatment by steroids and methotrexate brought to the remission of intestinal and articular symptoms together with an improvement of duodenal histology. This is the first description of an autoimmune enteropathy associated with rheumatoid arthritis. Autoimmune enteropathy should be always ruled out in patients with a villous atrophy unresponsive to a gluten-free diet, autoimmune manifestations and negativity of coeliac disease markers.
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PMID:Autoimmune enteropathy and rheumatoid arthritis: a new association in the field of autoimmunity. 1692 48


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