Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The improved survival of extremely premature infants has generated intense interest in the quality of life of the survivors. This review focuses on the major long-term complications of prematurity (developmental disability, retinopathy of prematurity, chronic lung disease) and concludes with an overview of the broader spectrum of morbidity. Severe impairment (cerebral palsy, mental retardation, retrolental fibroplasia, severe chronic lung disease) fortunately occurs in a small proportion of survivors. However, the prevalence of the lesser morbidities (minimal cerebral dysfunction/learning disability, poor growth, postneonatal illnesses, rehospitalization) is less clearly defined. These problems all have an impact on families, and on medical and educational services.
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PMID:Medical complications of prematurity. 293 64

Four new Saudi Arabian cases of the carbonic anhydrase II deficiency syndrome from two families are described. This autosomal recessive syndrome includes osteopetrosis with renal tubular acidosis and cerebral calcification. Additional features are mental retardation, growth failure, typical facial appearance, and abnormal teeth. Two patients showed evidence of restrictive lung disease, a finding not previously described. One of the patients reported represents the first neonate reported to be affected with this syndrome. Intrauterine growth was normal, but metabolic acidosis was already evident in the neonatal period. Radiographic evidence of osteopetrosis was probably absent at birth but appeared during the late neonatal period. Carbonic anhydrase II deficiency was demonstrated in erythrocyte hemolysates from the older two siblings of this neonate, and a 50% normal level of carbonic anhydrase II was demonstrated in the erythrocyte hemolysate from their father.
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PMID:Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. 308 69

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.
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PMID:Spontaneous pneumothorax associated with tuberous sclerosis. 705 3

The feeding skills and health of 73 adults with severe developmental disabilities who aspirated were examined between 1986 and 1990. Sixty individuals had profound mental retardation (82%) and 48, cerebral palsy (66%). Modified barium swallow studies, esophagrams and gastric follow-throughs were completed on 67 clients (92%). Twenty adults aspirated barium. Aspiration was specific for barium texture in 8 (40%). Mobility, level of mental retardation, or feeding skills did not discriminate those who aspirated. Mealtime respiratory distress (65%) or chronic lung disease (55%), however, were significantly associated with aspiration. More studies are needed on the early identification and management of aspiration.
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PMID:Long-term morbidity and management strategies of tracheal aspiration in adults with severe developmental disabilities. 814 25

This review is focused on pathways and mechanisms that might provide molecular links between the pathogenesis of renal and pulmonary disease in tuberous sclerosis complex and the pathogenesis of the neurologic manifestations of tuberous sclerosis complex. Tuberous sclerosis complex is an autosomal dominant disorder in which the manifestations can include seizures; mental retardation; autism; benign tumors of the brain, retina, skin, and kidneys; and pulmonary lymphangiomyomatosis. Lymphangiomyomatosis is a life-threatening lung disease affecting almost exclusively young women. Genetic data have demonstrated that the cells giving rise to renal angiomyolipomas, the most frequent tumor type in patients with tuberous sclerosis complex, exhibit differentiation plasticity. Genetic studies have also shown that the benign smooth muscle cells of angiomyolipomas and pulmonary lymphangiomyomatosis have the ability to migrate or metastasize to other organs. These findings indicate that hamartin and tuberin play functional roles in the regulation of cell migration and differentiation. The biochemical pathways responsible for these effects are not yet fully understood but might involve dysregulation of the small guanosine triphosphatase Rho. Similar pathways might contribute to aberrant neuronal differentiation and migration in tuberous sclerosis complex.
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PMID:Aberrant cellular differentiation and migration in renal and pulmonary tuberous sclerosis complex. 1556 18

The authors report the first case of levetiracetam-induced diffuse interstitial lung disease. The patient is a 9-year-old girl who was admitted to the pediatric intensive care unit for aspiration pneumonia. She has a history of epilepsy, cerebral palsy, mental retardation, asthma, and repeated hospitalizations for presumed aspiration pneumonia, which resolved with conventional medical treatment. She has been on low-dose levetiracetam for her epilepsy over the past 2 years, and the dosage was increased just prior to this admission. However, this time, with conventional treatment, the patient's aspiration pneumonia did not improve, which led to a lung biopsy. The biopsy demonstrated a diffuse interstitial process of relatively recent onset, with features consistent with diffuse lung disease. Levetiracetam was implicated in the pathogenesis of the interstitial pneumonitis. The patient improved clinically after the discontinuation of levetiracetam and with the treatment of steroids.
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PMID:Levetiracetam-induced diffuse interstitial lung disease. 1769 72

Objective To explore the clinical course of a cohort of newborns <1000 gr or <29 weeks of gestational age at birth after discharge from the Kangaroo Mother Care Program (KMC). Method Telephone surveys with parents of a cohort of 569 premature babies treated in 3 KMC programs between 2002 and 2012. Results The study contacted 65.4 % of the cohort, averaging 4 years old. 34 patients (6 %) passed away, 65 % during the first 6 months of life. 63 % were re-hospitalized, 32 % presented antecedents of intraventricular hemorrhage, 30 % had chronic lung disease, 5.2 % had cerebral palsy or mental retardation, and 2.7 % had convulsions. 72 % were monitored by a pediatrician, 65 % needed physical therapy, and 39 % needed speech therapy. 7 % repeated years in school and 9% of those over 4 years old had not begun to write. 4 % of those who could write had difficulties. 81 % of those over 6 years old had difficulties dressing themselves; 55 % did not practice sports. Discussion Extremely premature or low birth weight premature babies have a higher level of respiratory and neurological consequences that affect their quality of life and that of their family. It is important to strictly monitor their health after 12 months in order to promptly detect and manage neuro-psychomotor and sensorial development disorders.
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PMID:[Quality of clinical and neurologic monitoring in a cohort of extremely premature infants, 2002-2012]. 2845 71