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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The quality of life of adolescent patients with congenital heart disease (CHD) who have not undergone intracardiac repair was investigated by assessing the physical activity, complications, and the educational and occupational status of 69 patients (32 males and 37 females, average age 18 +/- 2 years) who had graduated from junior high school by April 1993. Group A consisted of 54 patients with mild CHD (small left-to-right shunt disease, mild aortic stenosis and/or regurgitation, and other CHD) who reported to have no symptoms. Group B consisted of 15 patients who complained of restrictions on physical activity associated with CHD (Eisenmenger syndrome, and CHD complicated with pulmonary atresia or severe pulmonary stenosis). All group A patients were in NYHA class I, and none had had serious complications due to CHD. Their heart condition had not been a disadvantage in terms of educational and occupational opportunities after graduation from junior high school. All group B patients in NYHA class II had reduced physical activity. Eleven patients suffered from complications associated with CHD, such as brain abscess, infective endocarditis, Down syndrome, supraventricular tachycardia, brain infarction, hemoptysis, mental retardation associated with conotruncal anomaly face syndrome, and I degree AV block without symptoms. Two remained at home after graduation from junior high school, and four after high school. Only two of 15 obtained full time jobs after graduation from high school. About half of the patients with symptomatic CHD are unable to participate actively in society since graduation from junior high or high school.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Adolescent congenital heart disease: quality of life in patients not undergoing intracardiac repair]. 793 75

The present paper describes eight patients (two teenagers and six adults) who had chronic symptoms (haemoptysis, cough, recurrent pneumonia) caused by foreign body (FB) inhalation which went undetected for 3 months to 25 yr. None of the patients had the usual predisposing conditions like mental retardation, seizures or brain tumour. The diagnosis of FB was made by radiography in one patient only. Computerized tomography visualized one FB (a beef bone), and bronchoscopy identified FB in another two patients. The remaining four cases were diagnosed at thoracotomy. Removal of FB was curative in three of five cases who required surgical resection for irreversible bronchiectatic changes. The severity of pulmonary changes correlated with duration of symptoms. It is concluded that chronic, unexplained respiratory symptoms should warrant further investigation to exclude FB despite negative history and normal chest radiography. Finding of granulation tissue or cicatricial stenosis of the bronchus could be the only clue to the presence of a FB. Early diagnosis would avoid irreversible parenchymal changes which necessitate lung resection.
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PMID:Overlooked inhaled foreign bodies: late sequelae and the likelihood of recovery. 917 48

Undetected foreign body aspiration is a well-known problem not only in children and patients with predisposing conditions like mental retardation, seizures or brain tumours, but also in healthy subjects. The clinical signs are quite different. Haemoptysis, cough, recurrent or chronic penumonia and bronchitis may occur. These symptoms are often accompanied by fever, weight loss and night sweat. Atelectasis, respiratory distress or death have been described. We demonstrate the case of a 39-year old man with Down syndrome who was transferred to our hospital because of pneumonia in the left lower lobe that had been lasting for about two months. It had been resistant to several antibiotic regimens. Computerised tomography led to the suspicion of a bronchial carcinoma with poststenotic infiltration of the lower lobe. Fibreoptic bronchoscopy and biopsy confirmed the diagnosis of a foreign body in the distal part of the left main bronchus. After two weeks of treatment with ciprofloxacin regression of the acute inflammation occurred. During a second bronchoscopy we could extract the foreign body (a 1 x 1.7 cm vertebra of a dove). It is concluded that undetected foreign body aspiration can occur in various clinical settings and fibreoptic bronchoscopy is a suitable approach providing an exact diagnosis.
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PMID:[Aspiration pneumonia caused by vertebrae of a dove in a 39 year old patient with Down syndrome]. 1044 52

Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the treatments were undertaken. The cases studied, included one patient with cystic fibrosis, two with lactose intolerance with lactosuria (Durand type), one with primary intestinal lymphangiectasia, two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia (NLH), five with intractable diarrhea of early infancy and four with glycogenosis type Ia. Each case description and outcome is described below: 1. A 15-year-old Japanese boy with cystic fibrosis presented with severe symptoms, including pancreatic insufficiency, bronchiectasis, pneumothorax and hemoptysis. His prognosis was poor. Analysis of the CFTR genes of this patient revealed a homozygous large deletion from intron 16 to 17b. 2. In the sibling case of Durand type lactose intolerance, the subjects'disaccaridase activity of the small bowel, including lactase, were within normal limits. The results of per oral and per intraduodenal lactose tolerance tests confirmed lactosuria in both. These observations suggested, not only an abnormal gastric condition, but also duodenal and intestinal mucosal abnormal permeability of lactose. 3. In the case of primary intestinal lymphangiectasia, the subject had a lymphedematous right arm and hand, a grossly coarsened mucosal pattern of the upper gastrointestinal tract (identified via radiologic examination) and the presence of lymphangiectasia (confirmed via duodenal mucosal biopsy). The major laboratory findings were hypoalbuminemia, decreased immunoglobulin levels and lymphopenia resulting from loss of lymph fluid and protein into the gastro-intestinal tract. 4. In two cases of heterozygous familial hypobetalipoproteinemia, serum total cholesterol and betalipoprotein levels were very low. The subjects presented with symptoms and signs of acanthocytosis and fat malabsorption. Further, one subject had neurological abnormalities such as mental retardation and severe convulsions. Treatment with MCT formula diet corrected the lipid malabsorption. 5. A 5-year-old girl presented with pellagra-like rashes, mental retardation and cerebellar ataxia. An oral tryptophan (Trp) and dipeptide (Trp-Phe) loading test were conducted and the renal clearance of amino acids was also evaluated in this patient and in controls. Following the oral Trp loading test, plasma levels of Trp indicated a lower peak in the case, reaching a maximum at 60 minutes. On the other hand, the oral dipeptide (Trp-Phe) loading test in the Hartnup patient showed the peak Trp plasma level was the same as the control subjects. The renal clearance of neutral amino acids in this case increased to levels 5 to 35 times normal. 6. In the case of congenital chloride diarrhea, the subject had secondary lactose intolerance, dehydration, hyponatremia, hypokalemia, hypochloremia, hyperreninemia and metabolic alkalosis. The chloride content of her fecal fluid was very high. The concentrations were 89-103 mEq/l. In contrast, her urine was chloride-free. The subject's growth and development improved after treatment with lactose free formura and oral replacement of the fecal loses of water, NaCl and KCl. Unfortunately, the patient died of a small bowel intussusception. The kidney histopathological finding was juxtaglomerular hyperplasia by a necropsy. 7. In the case of acrodermatitis enteropathica, the subject had characteristic skin lesions, low serum zinc levels and ALPase activity. An oral ZnSO4 loading test and intestinal mucosal histology by a peroral biopsy were conducted. The serum zinc peak level was 2 hours after the oral ZnSO4 loading test. Infant formula alone could not maintain normal serum zinc ranges. Light microscopic studies of the intestinal villous architecture showed a normal pattern. However, ultrastructual examination of several epithelial cells revealed numerous intracellular vesicles. After zinc therapy, these changes were decreased. The lesions were postulated as the secondary result of zinc deficiency. 8. A 12-year-old girl presented with hypogammaglobulinemia, recurrent infections, chronic diarrhea and intestinal NLH. A barium meal and follow-through examination showed multiple nodules throughout the stomach and intestine. The nodules, all uniform in size, were 2 mm diameter. The barium enema did not show NLH in the colon. Mucosal biopsy of the stomach and jejunum revealed the typical histology of NLH in the lamina propria. Also, achlorhydria was present in this patient and her serum gastrin levels were very high; 315-775 pg/ml. 9. In 4 cases of intractable diarrhea in early infancy (by Avery G B), a jejunal biopsy showed shortening villi and nonspecific enterocolitis. Some patients were found with only low lactase or low lactase and sucrase levels. An electron microscope analysis of the small bowel in 2 cases showed alterations: increased pinocytosis in microvillus membranes and lysosomes by endocytosis of undigested macromolecular substances. I postulated that the stated evidence was causative of this clinical profile. 10. I frequently observed diarrhea as a clinical manifestation in glycogenosis type Ia and lipid malabsorption in one case. The light and electron photomicrographs showed intestinal absorption cells with the glycogen deposits in the inferior devision of nuclei.
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PMID:[Clinical studies of pediatric malabsorption syndromes]. 1722 86

Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by seizures, mental retardation, and various hamartomatous lesions, including renal angiomyolipoma (AML) and pulmonary lymphangioleiomyomatosis. A 22-year-old woman with TSC presented with multiple renal AMLs exceeding 4 cm in diameter. She underwent two transcatheter embolization procedures with a mixture of ethanol and iodized oil. She complained of dyspnea and minor hemoptysis 4 and 6 hours after the procedure. Findings on chest radiographs and computed tomographic images were indicative of pulmonary edema. The patient was treated with conservative therapy. The possible causes of the pulmonary edema are discussed in the text.
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PMID:Pulmonary edema as a complication of transcatheter embolization of renal angiomyolipoma in a patient with pulmonary lymphangioleiomyomatosis due to tuberous sclerosis complex. 1946 8

A 22-year-old African American female patient presented with a sudden onset of difficulty in breathing for approximately 2 days accompanied by bilateral pleuritic chest pain. Her past medical history was significant for tuberous sclerosis and mental retardation. Preliminary radiographic imaging showed bilateral pneumothoraces for which bilateral chest tubes were subsequently inserted. A computed tomography scan of the chest showed cystic changes compatible with lymphangioleiomyomytosis (LAM). She underwent a video-assisted thoracoscopy with pleurodesis and an open lung biopsy for the confirmation of the diagnosis. Cystic changes involving the visceral pleura were noticed during the procedure. Understanding that "tuberous sclerosis complex" is an illness that could be associated with LAM should prompt clinicians to consider the diagnosis if the patients present with shortness of breath, pneumothorax, diffuse cystic lung changes, or hemoptysis. Hemoptysis results from pulmonary venous hypertension, which is a consequence of LAM. Pleuroscopy or video-assisted thoracoscopy may show unusual findings, as described in this case, which could be pathognomonic for the diagnosis.
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PMID:Lymphangioleiomyomytosis: Are the Findings of Video-assisted Thoracoscopy Pathognomonic? 2316 18