Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

More than 30,000 Norwegians are mentally retarded and about 50% of them are severely retarded and often multihandicapped. Before 1975 the majority of the severely retarded resided in large institutions. New legislation has led to an increasing emphasis on decentralization and integration in local communities. Mental retardation is caused by prenatal brain damage in 90% of the cases. Chromosomal aberrations like Down and Fragile-X syndromes are the most common causes. A high proportion of individuals with autism, cerebral palsy, epilepsy and sensory defects are mentally retarded, and the most common additional diagnoses in mental retardation are speech defects, epilepsy, cerebral palsy, congenital heart disease, sight and hearing impairment and hydrocephalus. Almost 1/3 of the mentally retarded adults have developed psychiatric disturbances. Families with mentally retarded children are affected emotionally, socially and economically, and the burden increases as the mentally retarded individual grows older.
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PMID:[The mentally retarded dental patients. Who are they?]. 183 92

Mortality rates for institutionalized persons with mental retardation were presented. Rates were provided for two time intervals, 1974 through 1979 and 1980 through 1985, and by age, race, and gender. Consistent differences between black and white residents or by gender were not indicated. However, significant improvement in mortality did occur between the two time periods. Persons with profound retardation were found to have higher mortality than those whose retardation was mild to severe. Respiratory disease was the most prevalent cause of death among the individuals with profound mental retardation, whereas heart disease and cancer were the most common causes of death among persons with mild, moderate, or severe retardation. Aging of the population was noted over the period of the study, indicative of the increasing frailty of the institutionalized population.
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PMID:Mortality in a large southeastern facility for persons with mental retardation. 200 9

Ischemic cerebrovascular disease in children is relatively rare. To clarify the clinical features of ischemic stroke occurring in infants and children, we evaluated 54 cases of cerebral infarction, excluding cases of moyamoya disease, in patients less than 16 years old at 24 clinics in the Tohoku (northeast) district of Japan. We observed two incidence peaks, one in little children and the other in junior high school students. Infection and minor head trauma were more frequently seen prior to ischemic strokes than was heart disease. The middle cerebral artery region, including the basal ganglia, was most commonly affected (49 patients, 91%) on computed tomograms. Angiography was performed in 48 patients (89%) and showed various types of occlusive lesions, mostly affecting the middle cerebral artery. Hemiparesis was the most common form of disability following ischemic strokes (48 patients, 89%). Surgical treatment was carried out in seven patients (13%). The clinical course of these cases showed that the recovery of children after a stroke tends to be better than that of adults, but that permanent disabilities, such as hemiparesis or mental retardation, occur commonly. Further investigation of juvenile cerebrovascular disease is important to prevent ischemic strokes in children.
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PMID:Clinical survey of ischemic cerebrovascular disease in children in a district of Japan. 202 86

A case of a 4-year old boy with de Grouchy syndrome was reported. The patient showed generalised muscular hypotonia, marked mental retardation (RQ = 30), developmental milestones retarded, craniofacial dysmorphic features, congenital heart disease, abnormalities of the external genitalia and skeletal deformities. The karyotype analysis revealed a partial deletion of the distal bands of chromosome 18:48 48 xy del (18) (q 22----qter). Qualitative and quantitative characteristics analysis of digital and palmar dermatoglyphics supported the diagnosis.
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PMID:[The (18)(q 22----qter) deletion in patients with complete clinical features of the De Grouchy syndrome]. 207 33

Down syndrome (DS) is a major cause of mental retardation and heart disease. Although it is usually caused by the presence of an extra chromosome 21, a subset of the diagnostic features may be caused by the presence of only band 21q22. We now present evidence that significantly narrows the chromosomal region responsible for several of the phenotypic features of DS. We report a molecular and cytogenetic analysis of a three-generation family containing four individuals with clinical DS as manifested by the characteristic facial appearance, endocardial cushion defect, mental retardation, and probably dermatoglyphic changes. Autoradiograms of quantitative Southern blots of DNAs from two affected sisters, their carrier father, and a normal control were analyzed after hybridization with two to six unique DNA sequences regionally mapped on chromosome 21. These include cDNA probes for the genes for CuZn-superoxide dismutase (SOD1) mapping in 21q22.1 and for the amyloid precursor protein (APP) mapping in 21q11.2-21.05, in addition to six probes for single-copy sequences: D21S46 in 21q11.2-21.05, D21S47 and SF57 in 21q22.1-22.3, and D21S39, D21S42, and D21S43 in 21q22.3. All sequences located in 21q22.3 were present in three copies in the affected individuals, whereas those located proximal to this region were present in only two copies. In the carrier father, all DNA sequences were present in only two copies. Cytogenetic analysis of affected individuals employing R and G banding of prometaphase preparations combined with in situ hybridization revealed a translocation of the region from very distal 21q22.1 to 21qter to chromosome 4q. Except for a possible phenotypic contribution from the deletion of chromosome band 4q35, these data provide a molecular definition of the minimal region of chromosome 21 which, when duplicated, generates the facial features, heart defect, a component of the mental retardation, and probably several of the dermatoglyphic changes of DS. This region may include parts of bands 21q22.2 and 21q22.3, but it must exclude the genes S0D1 and APP and most of band 21q22.1, specifically the region defined by S0D1, SF57 and D21S47.
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PMID:Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. 214 53

Cardio-facio-cutaneous (CFC) syndrome is a not uncommon syndrome with a characteristic face, mental retardation, abnormal skin and hair and congenital heart disease. We report the 16th case of this syndrome and give details of the spectrum of neurological manifestations in the cases so far reported.
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PMID:Cardio-facio cutaneous syndrome: neurological manifestations. 214 8

Down syndrome (DS) is a major cause of mental retardation and heart disease. Although it is usually caused by the presence of an extra chromosome 21, a subset of the diagnostic features may be caused by the presence of only band q22. Molecular and cytogenetic analysis of a family with 4 DS members has significantly narrowed the chromosomal region responsible for the DS phenotype: congenital heart disease, facial features, and possibly dermatoglyphics. Using high-resolution chromosome banding and in situ hybridization, we found the DS phenotype in the family is caused by a duplication of chromosome 21 material including a region of distal band q22.1 below the limit of cytogenetic resolution, in addition to bands q22.2-q22.3. By quantitative Southern blot analyses of DS members of the family, all random DNA sequences and expressed genes mapping in band q22.1 and proximal are found not to be duplicated. These include cDNA probes for the genes for superoxide dismutase (SOD1) mapping in 21q22.1 and for the amyloid precursor protein (APP) mapping in 21q21.05; D21S46 in 21q11.2-21.05; and D21S47 and SF57 in 21q22.1-q22.3. With one exception, DNA sequences mapping in band q22.3 are duplicated (D21S39, D21SD42, and D21S43). This analysis has now been extended to show that D21S17, previously mapped to band 21q22.3, is not duplicated. In conclusion, the genes SOD1 and APP have been excluded from a necessary role in generating the classical DS features, and the proximal border of the chromosomal region causing DS has been defined.
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PMID:Down syndrome: toward a molecular definition of the phenotype. 214 83

Two families having secundum atrial septal defect (ASD) were reported. In one family, a 31-year-old male and his 60-year-old mother had secundum ASD without PR prolongation. His 38-year-old brother was diagnosed as having ASD. His grandmother, who had died at the age of 51, was suspected of having congenital heart disease. From early childhood she was noticed to have heart murmur. It was suspected that this was a case of familial ASD without PR prolongation, because it was consistent with the dominant trait of the defect. In the other family, a 16-year-old female had secundum ASD and her 18-year-old brother was also suspected of having ASD. Her 25-year-old brother had been operated on for tetralogy of Fallot, and her sister had died of an unknown congenital heart disease. All of these family members had mental retardation. Her 22-year-old brother was suspected of having a congenital heart disease, because of heart murmur from his early childhood. The parents, who were blood relations (cousins), had neither heart disease nor mental retardation. The children of this family were considered to be cases of congenital heart disease with ASD, associated with mental retardation. It was also suspected that the cause of the defect was a deleterious autosomal recessive gene.
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PMID:[Secundum atrial septal defect in two families]. 230 32

The Bardet-Biedl syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, obesity, polydactyly, hypogonadism, and mental retardation. Renal abnormalities, hypertension, acquired heart disease, and hepatic fibrosis also occur in homozygotes. Two adult Bardet-Biedl sibs, a man with hypertension and cardiomegaly and a woman with biliary cirrhosis, and 75 relatives in 5 generations of the extended family were identified. Hospital records for major illnesses, death certificates, and autopsy reports were examined. The frequent observation of obesity, hypertension, diabetes mellitus, and renal disease in first-degree relatives, obligate gene carriers, and other blood relatives raise the possibility that Bardet-Biedl heterozygotes are also predisposed to these disorders.
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PMID:Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. 187 34

We present two male sibs with a series of malformations including microcephaly, mental retardation, congenital heart disease, skeletal abnormalities, micropenis, and mild hypothyroidism. Both have had seizures. While the pattern of abnormalities is similar to that previously reported in this journal as an unknown syndrome, the facies is clearly distinct, the hypothyroidism is mild, micropenis is present, and there are additional minor skeletal abnormalities.
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PMID:Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities. 832 Jul 15


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