Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Between 1979 and 1981, 67 infants weighing 1000 g or less at birth were admitted to the Hammersmith Hospital Neonatal Intensive Care Unit. 29 survived the neonatal period. Low acidosis score, without a metabolic component, was the most powerful predictor of survival. Other factors were gestational age, five-minute Apgar score, the need for ventilatory support, hypoxia, hypercapnia, pneumothorax, hypotension and the presence of a larger PVH. Of the 24 survivors followed up to three years of age, 11 were optimal, nine had some neurodevelopmental deficits and three had moderate functional handicap. Only one child has cerebral palsy and global mental retardation. Five-minute Apgar score and the presence of PDA correlated with normal outcome. None of the 20 obstetrical factors examined appeared to influence either survival or neurological outcome.
 ...
PMID:Predictors for survival and normal neurodevelopmental outcome of infants weighing less than 1001 grams at birth. 384 Jul 54

Tuberous sclerosis (TS) is a rare disease of the nervous system, being characterized by seizures, mental retardation and adenoma sebaceum. Concomitant pleuropulmonary lesions and spontaneous pneumothorax are extremely rare during the evolution of this disease. To date, only 19 cases of TS and spontaneous pneumothorax have been described in the literature. Here we present a case of TS and associated pleuropulmonary lesions with spontaneous pneumothorax in a 29-year-old female patient. Clinical, roentgenographic and histological aspects of this disease are commented upon.
 ...
PMID:Tuberous sclerosis and associated pleuropulmonary lesions. 619 62

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by adenoma sebaceum, mental retardation, and epilepsy. Pulmonary disease with spontaneous pneumothorax is a rare complication with this disease. We have recently seen two patients with this complication. A review of the literature reveals 17 other patients with spontaneous pneumothorax and tuberous sclerosis. Eight of these died of pneumothorax. Fifty-three percent of the patients, including all those who died, had normal intelligence. The pathological and roentgenographic findings of the disease are discussed. Recommendations for therapeutic management are given.
 ...
PMID:Spontaneous pneumothorax associated with tuberous sclerosis. 705 3

In the period 1985 to 1991, 80 infants with gestational age below 28 completed weeks were born at Hvidovre Hospital, Copenhagen and transferred to the neonatal intensive care unit of the hospital. The incidence of extreme prematurity was 3.6 0/00. Twenty-eight infants died during the neonatal period (35%) and nine infants died later in infancy (11.3%). Forty-three infants (54%) survived. Forty four percent of surviving infants had one or more sequelae related to their prematurity or neonatal complications, mainly blindness or reduced vision, cerebral palsy and mental retardation. Neither gender, mode of delivery or birth asphyxia were important for survival and sequels. Neonatal complications such as patent ductus arteriosus, septicaemia, necrotizing enterocolitis, pneumothorax and cerebral haemorrhages were significantly related to survival and sequelae.
 ...
PMID:[Morbidity, mortality and late sequelae in extremely premature infants born in the Hvidovre Hospital, 1985-1991]. 800 8

Secondary pneumothorax occurs as a symptom of an underlying pulmonary disease. We report the case of an 18-year-old woman with tuberous sclerosis (Bourneville's disease) and recurrent pneumothoraces. Clinical outcome was favorable 6 months after bilateral videothoracoscopic pleurectomy. The complete triad of tuberous sclerosis (TS) (mental retardation, seizures, adenoma sebacium) is not always present in those who develop pulmonary involvement. When TS involves the lung it is clinically and pathologically indistinguishable from lymphangioleiomyomatosis (LAM). The very rare pulmonary involvement of TS and LAM are problems primarily of women in childbearing age. A pneumothorax can be the first symptom of TS or LAM.
 ...
PMID:[Secondary spontaneous pneumothorax in tuberous sclerosis]. 1182 39

Tuberous sclerosis (TSC) is an autosomal dominant disorder with the incidence of 1/10 000. The disease is characterized by epilepsy, mental retardation, the occurrence of hamartomas in the various organs and angiomyolipomas in the kidney. According to the literature lung changes identical with lymphangioleiomyomatosis (LAM) occur in over 30% of TSC patients. We report on 6 cases diagnosed in our department in last 14 years. This is the largest group of patients with TSC and LAM collected in one center in Poland. All patient were women. The diagnosis of LAM was confirmed by lung biopsy in 5 patients and established on the basis of clinical presentation, lung function tests and high resolution computerized tomographic scanning (HRCT) of the lung in 1 case. The mean age at diagnosis of TSC was 21 years and at the diagnosis of LAM was 28 years. Typical skin changes, angiomyolipomas of the kidney and calcifications in the brain were documented in all patients, 4 patients had nefrectomy and 4 had at least one episode of sponateous pneumothorax. Epilepsy was diagnosed in 4 of 6 cases and mental retardation in 1 (17%). Abnormal values in pulmonary function tests were common. All but one demonstrated decrease in diffusing capacity (DLCO) below 80% of predicted. 5 out of 6 had FEV1 below 80% of predicted but only 3 had FEV1%VC below 80%. Only 3 patients were given antiestrogen therapy which was medroxyprogesterone in 2 cases and tamoxifen in 1. We are unable to conclude on the efficacy of treatment due to small number of treated patients. We conclude that TSC should be suspected in LAM patients and LAM should be considered in all women with the diagnosis of TSC.
 ...
PMID:[Pulmonary disease in patients with tuberous sclerosis]. 1653 84

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.
 ...
PMID:[Clinical studies of pediatric malabsorption syndromes]. 1722 86

Lymphangioleiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women almost exclusively. Microscopically, LAM consists of a diffuse proliferation of smooth muscle cells. LAM can occur without evidence of other disease (sporadic LAM) or in conjunction with tuberous sclerosis complex (TSC). TSC is an autosomal dominant tumor suppressor gene syndrome characterized by seizures, mental retardation, and tumors in the brain, heart, skin, and kidney. LAM commonly presents with progressive breathlessness or with recurrent pneumothorax, chylothorax, or sudden abdominal hemorrhage. Computed tomography (CT) scans show numerous thin-walled cysts throughout the lungs, abdominal angiomyolipomas, and lymphangioleiomyomas. No effective treatment currently exists for this progressive disorder. The prevalence of lymphangioleiomyomatosis is probably underestimated based on its clinical latency and the absence of specific laboratory tests. With the utilization of international LAM data registries the "classical" picture of the disorder appears to be evolving as a larger number of patients are evaluated. An increased awareness of LAM and its common clinical presentation may advance the development of new therapeutic strategies and reduce the number of mistakenly diagnosed patients.
 ...
PMID:Lymphangioleiomyomatosis: A review. 1923 77

Foreign body aspiration in childhood is a common and life-threatening emergency. A 14-year-old male with history of mental retardation was transferred from another center to our hospital with diagnosis of foreign body aspiration. According to the anamnesis, he had been diagnosed with epilepsy a few years ago. Approximately 10 hours before admission, while at home, his parents had urgently placed a wooden spoon in the boy's mouth during a generalized tonic-clonic seizure to avoid possible airway injury. Nevertheless, he had inhaled a large piece of the wood after breaking the handle of the spoon with his teeth. Rigid bronchoscopic evaluation revealed the presence of a large piece of wood sitting vertically 2 cm beyond the glottis. Although bronchoscopic removal of the wooden piece from the trachea was difficult and prolonged, it was successful. Following this process, he presented with subcutaneous emphysema and pneumothorax in the intensive care unit (ICU). After improvement with the aid of chest tube drainage in the ICU, he was discharged from the hospital on the 3rd day of rigid bronchoscopy. Early diagnosis and urgent removal of a foreign body are very important for reducing mortality. However, complications related to the foreign body itself or the bronchoscopy may occur. In conclusion, the physical characteristics, position and location of the foreign body can influence the outcome, even in skilled hands.
 ...
PMID:Iatrogenic aspiration of a large piece of a wooden spoon in a 14-year-old epilepsy patient. 2193 37

Intraventricular hemorrhage (IVH) is one of the major causes of the cerebral palsy and mental retardation. Prevention and early management of these neurologic developmental problems will require determining the perinatal risk factors associated with this clinical entity. Pneumothorax increase the risk of IVH, and cause of pneumothorax has an important effect in severity of IVH. This is a prospective cross sectional study in 2010. This study includes 150 preterm neonates. Cranial ultrasound was performed in all neonates in age 3, 7, 30, 60, just after pneumothorax and every 2 week until chest tube discontinuation. Then prevalence of IVH and pneumothorax was calculated in preterm infant and severity of IVH was investigated before and after development of pneumothorax, and this comparison was divided by different causes of pneumothorax with SPSS version 11.5. Prevalence of IVH and pneumothorax in preterm infants were 30% and 10% respectively. Pneumothorax was not a risk factor of IVH (P>0.05), but prevalence of pneumothorax caused by RDS was a risk factor of development of IVH (P=0.01). Also pneumothorax in patients with birth weight less than 1000 g and gestational age less than 28 week was a risk factor of IVH pneumothorax (P=0.008, P=0.01 respectively). Our study discusses the differences in previous studies about association of pneumothorax and IVH. Also we suggest the hypothesis that lack of cerebral autoregulation in neonates with gestational age less than 28 week can cause IVH development after hypotension induces by pneumothorax.
 ...
PMID:Intraventricular hemorrhage in premature infants and its association with pneumothorax. 2293 Mar 79


1 2 Next >>