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 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Physical disorders and pharmacotherapy for all 134 people with mental retardation ages 65 years and over living in Leicestershire, United Kingdom, were examined. Results were compared with a randomly selected group of 73 younger adults with mental retardation. Group comparisons revealed higher rates of urinary incontinence, immobility, hearing impairments, arthritis, hypertension, and cerebrovascular disease among the older group. The younger group had higher rates of dermatological disorders; congenital heart disease; ear, nose, and throat (ENT) disorders; and neurological disorders (excluding Parkinson disease). The older group took more drugs for physical illness. The effect of ageing on physical morbidity outweighs the effect of people with more severe mental retardation dying younger: Older people with mental retardation have significant physical health needs.
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PMID:Clinical study of the effects of age on the physical health of adults with mental retardation. 960 67

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder. Specific diagnostic criteria for BBS have now been defined. At least four of the five cardinal signs of mental retardation, obesity, hypogenitalism in men, distal limb anomalies, and progressive tapetoretinal degeneration of the retina are required for the diagnosis. Renal involvement has been described as a sixth cardinal feature. Chronic renal failure occurs in 30%-60% of patients. Hypertension has been noted in 50%-66% of cases. Renal abnormalities reflect a defect in maturation of the kidneys. We present a patient with BBS who had bilateral microaneurysms and occlusions in renal arterioles.
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PMID:Renal vascular abnormalities in Bardet-Biedl syndrome. 1060 22

Sneddon's syndrome is a rare disease with strong gender prevalence of females. This syndrome is characterized by livedo racemosa and cerebrovascular lesions. Since no specific test is available, the clinical differentiation from other disorders with similar symptomatology may raise difficulties. The cerebral involvement includes strokes with cases of more than one ischaemic event having been reported. Associations with convulsions, heart valve disease, systemic hypertension, and renal impairment have been described. We report the case of a 5-year-old boy who was anaesthesized for dental surgery. Due to the fact that 50% of Sneddon's syndrome patients develop mental retardation, even minor procedures require general anaesthesia. A review of the literature is added and specific anaesthesiological aspects of the perioperative care of Sneddon's syndrome are discussed.
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PMID:Anaesthesiological considerations in patients with Sneddon's syndrome. 1111 4

Although it is currently thought that surgery is indicated mainly for cosmetic reasons in isolated craniosynostoses, the functional aspects of the treatment must not be underestimated. Prospective studies on intracranial pressure and mental evolution of these children have shown that there were functional consequences in a significant proportion of cases even of single suture fusion. The frequency of increased intracranial hypertension and the risk of mental impairment depend on the age of the child and the type of craniosynostosis. In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In syndromic cases, the risk of intracranial hypertension is higher in Crouzon syndrome, and Apert syndrome carries the higher risk of mental retardation. The study of a personal series of 2,137 craniosynostoses shows that the functional and the cosmetic results are better after early surgery, and that the operative risks are not higher in infants than in older children.
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PMID:Management of craniosynostoses. 1115 14

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.
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PMID:Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 1128 52

Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although BBS is rare in the general population (<1/100,000), there is considerable interest in identifying the genes causing BBS because components of the phenotype, such as obesity and diabetes, are common. We and others have demonstrated that BBS6 is caused by mutations in the gene MKKS (refs. 12,13), mutation of which also causes McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly, and congenital heart defects). MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum. We recently identified a novel gene that causes BBS2. The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4.
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PMID:Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 1138 Dec 70

Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation and hypogenitalism. Individuals with BBS are also at increased risk for diabetes mellitus, hypertension and congenital heart disease. What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13 p12 (BBS3), 15q22.3 q23 (BBS4), 2q31 (BBS5) and 20p12 (BBS6). There has been considerable interest in identifying the genes that underlie BBS, because some components of the phenotype are common. Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). In addition, we recently used positional cloning to identify the genes underlying BBS2 (ref. 16) and BBS4 (ref. 17). The BBS6 protein has similarity to a Thermoplasma acidophilum chaperonin, whereas BBS2 and BBS4 have no significant similarity to chaperonins. It has recently been suggested that three mutated alleles (two at one locus, and a third at a second locus) may be required for manifestation of BBS (triallelic inheritance). Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. In addition, we provide data showing that this common mutation is not involved in triallelic inheritance.
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PMID:Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 1211 55

Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment. The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus a classic 'metabolic syndrome' (characterized by abdominal obesity, atherogenic dyslipidaemia, raised blood pressure, insulin resistance with or without glucose intolerance, and prothrombotic risk and proinflammatory states). One female patient (not affected by reproductive dysfunction) had three healthy offspring, while the other two patients were unmarried. Another severely affected brother died at 70 years of age; two other brothers are lean but affected by nephropathy, retinopathy, slight mental retardation, polydactyly, hypertension and thrombotic diseases, and had healthy offspring. BBS is a rather rare but severe syndrome that is often mis- or undiagnosed. Ophthalmologists, endocrinologists and nephrologists should be aware of BBS because of its adverse prognosis--early onset of blindness, associated findings of metabolic syndrome and increased vascular risk, and severe renal impairment (the most frequent cause of reduced survival and death early in life).
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PMID:A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. 1212 Apr 19

The association between physical activity, dietary behaviors, and elevated cardiovascular disease risk factor components of the insulin resistance syndrome in adults with mental retardation was identified. Established clinical cutoff points were used to identify 145 participants with mild mental retardation and hyperinsulinemia, borderline high triglycerides, low high-density lipoprotein cholesterol, hypertension, and abdominal obesity. Odds ratios were calculated from logistic regression analysis. Those who participated in more frequent bouts of physical activity or who consumed lower dietary fat intakes were approximately one third as likely to have hyperinsulinemia and abdominal obesity compared to those who participated in less frequent physical activity or who consumed higher fat intakes, suggesting that these behaviors are protective against elevated components of the insulin resistance syndrome.
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PMID:Physical activity, dietary intake, and the insulin resistance syndrome in nondiabetic adults with mental retardation. 1218 77

Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS are also at increased risk for diabetes mellitus, hypertension, and congenital heart disease. BBS is known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although these loci were all mapped on the basis of an autosomal recessive mode of inheritance, it has recently been suggested-on the basis of mutation analysis of the identified BBS2, BBS4, and BBS6 genes-that BBS displays a complex mode of inheritance in which, in some families, three mutations at two loci are necessary to manifest the disease phenotype. We recently identified BBS1, the gene most commonly involved in Bardet-Biedl syndrome. The identification of this gene allows for further evaluation of complex inheritance. In the present study we evaluate the involvement of the BBS1 gene in a cohort of 129 probands with BBS and report 10 novel BBS1 mutations. We demonstrate that a common BBS1 missense mutation accounts for approximately 80% of all BBS1 mutations and is found on a similar genetic background across populations. We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance.
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PMID:Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 1252 98


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