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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating, result in a debilitating physical and developmental disability in adolescence and adulthood. No consistent biological marker is yet available for PWS in spite of recent research activity in cytogenetics and molecular genetics. Diagnostic criteria for PWS were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts. Two scoring systems are provided: one for children aged 0 to 36 months and another one for children aged 3 years to adults. These criteria will aid in recognition of the syndrome in hypotonic infants and in obese, mildly retarded, behaviorally disturbed adolescents and adults. They will also ensure uniform diagnosis for future clinical and laboratory research in PWS.
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PMID:Prader-Willi syndrome: consensus diagnostic criteria. 842 17

Clinical and experimental data indicate the possible existence of a causal link between fetal and infant growth and diabetes, cardiovascular disease, and possibly obesity later in life. An experiment using rats was conducted to explore the long-term consequences of fetal protein malnutrition upon the biology of the pancreas and the outcome in terms of glucose intolerance in offspring. Pregnant rats were divided into 2 groups, an experimental group fed a low protein diet and a control group fed a normal protein diet. Both groups had equal energy intake. The offspring of the 2 groups were subsequently raised until reaching the adult age of 84 days. The experimental group was then further divided into 2 groups, one which continued with a low protein diet throughout life and a recovery group fed a diet adequate in protein from birth. The control group continued with a normal diet throughout life. Study results show that the lack of adequate protein availability during gestation induces developmental disabilities with consequences in adulthood in organs responsible for diabetes and causal for vascular disease and hypertension.
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PMID:The role of fetal and infant growth and nutrition in the causality of diabetes and cardiovascular disease in later life. 1232 82

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous developmental disorder whose molecular basis is largely unknown. Here, we show that mutations in the Caenorhabditis elegans bbs-7 and bbs-8 genes cause structural and functional defects in cilia. C. elegans BBS proteins localize predominantly at the base of cilia, and like proteins involved in intraflagellar transport (IFT), a process necessary for cilia biogenesis and maintenance, move bidirectionally along the ciliary axoneme. Importantly, we demonstrate that BBS-7 and BBS-8 are required for the normal localization/motility of the IFT proteins OSM-5/Polaris and CHE-11, and to a notably lesser extent, CHE-2. We propose that BBS proteins play important, selective roles in the assembly and/or function of IFT particle components. Our findings also suggest that some of the cardinal and secondary symptoms of BBS, such as obesity, diabetes, cardiomyopathy, and learning defects may result from cilia dysfunction.
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PMID:Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. 1523 40

The literature on the health of adults with disabilities focuses on one disability compared to a comparison group. This study allows cross disability comparisons with the hypothesis. Adults with disabilities had higher odds of having common health conditions, compared to adults without disability in the same practice. A retrospective record review of 1449 patients with disability and 2084 patients without disability included individuals with sensory impairments (n = 117), developmental disabilities (n = 692), trauma-related impairments (n = 155) and psychiatric impairments (n = 485). The only two health conditions with statistically significantly increased odds for all groups with disabilities were dementia and epilepsy. Patients with developmental disabilities were less likely to have coronary artery disease, cancer, and obesity. Those with sensory impairments had increased odds for congestive heart failure, diabetes, transient ischemic attacks and death. Patients with trauma disabilities had increased odds for chronic obstructive pulmonary disease, and depression. Finally, psychiatric patients had increased odds for most of the investigated condition. In conclusion, there were many similarities in the risk for common health conditions such as asthma, cancer, coronary artery disease, depression, hypertension, and obesity, among patients with and without disability. Some of the conditions with increased odds ratios, including depression, seizures, and dementia are secondary to the primary disability.
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PMID:Variation in health conditions among groups of adults with disabilities in primary care. 1683 May 4

Bardet-Biedl syndrome (BBS) is a rare developmental disorder with the cardinal features of abdominal obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, hypertension, and diabetes. BBS is genetically heterogeneous, with nine genes identified to date and evidence for additional loci. In this study, we performed mutation analysis of the coding and conserved regions of BBS1, BBS2, BBS4, and BBS6 in 48 French Caucasian individuals. Among the 36 variants identified, 12 were selected and genotyped in 1,943 French-Caucasian case subjects and 1,299 French-Caucasian nonobese nondiabetic control subjects. Variants in BBS2, BBS4, and BBS6 showed evidence of association with common obesity in an age-dependent manner, the BBS2 single nucleotide polymorphism (SNP) being associated with common adult obesity (P = 0.0005) and the BBS4 and BBS6 SNPs being associated with common early-onset childhood obesity (P = 0.0003) and common adult morbid obesity (0.0003 < P < 0.007). The association of the BBS4 rs7178130 variant was found to be supported by transmission disequilibrium testing (P = 0.006). The BBS6 variants also showed nominal evidence of association with quantitative components of the metabolic syndrome (e.g., dyslipidemia, hyperglycemia), a complication previously described in BBS patients. In summary, our preliminary data suggest that variations at BBS genes are associated with risk of common obesity.
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PMID:Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. 1700 56

The paper reports epidemiological and phenomenological investigations of aberrant eating among 347 pre-adolescent children in court-ordered foster and kinship care, in New South Wales, Australia. A quarter of children displayed clinically significant aberrant eating problems, with no evidence of gender or age effects. Two distinct patterns were identified. The first is a pattern of excessive eating and food acquisition and maintenance behaviors without concurrent obesity (termed Food maintenance syndrome), resembling the behavioral correlates of Hyperphagic Short Stature (Psychosocial Dwarfism). Various data suggest this pattern is primarily triggered by acute stress, including maltreatment in care, against a background of complex psychopathology and developmental disabilities. The second is a cluster of pica-type eating behaviors that correlates with self-injurious behavior, and is closely associated with developmental disabilities. The paper includes recommendations for clinicians working with pre-adolescent children in care.
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PMID:Patterns of aberrant eating among pre-adolescent children in foster care. 1701 30

The National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention conducted a workshop in January 2006, entitled "Prioritizing a Research Agenda for Orofacial Clefts." The goals of the meeting were to review existing research on orofacial clefts (OFCs), identify gaps in knowledge that need additional public health research, and develop a prioritized research agenda that can help guide future public health research. Experts in the field of epidemiology, public health, genetics, psychology, speech pathology, dentistry, and health economics participated to create the research agenda. Research gaps identified by the participants for additional public health research included: the roles of maternal nutrition, obesity, and diabetes in the etiology of OFCs; psychosocial outcomes for children with OFCs; the quality of life for families and children with OFCs; and the health care costs of OFCs. To create the research agenda, the participants prioritized the research gaps by public health importance, feasibility, and outcomes of interest. This report summarizes the workshop.
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PMID:Priorities for future public health research in orofacial clefts. 1760 58

Bardet-Biedl syndrome (BBS) is a rare, developmental disorder characterized by six major symptoms: rod-cone dystrophy, obesity, polydactyly, renal abnormalities, learning difficulties, and hypogonadism. Secondary features include cardiac and hepatic anomalies, metabolic disturbancies, and hearing loss. BBS is genetically heterogeneous with 12 disease genes (BBS1-BBS12) described thus far. Current data suggest a functional disturbance in ciliary function and intraflagellar transport being associated with the phenotype. However, the precise functions of the BBS proteins have yet to be elucidated. This study focuses on the detection of protein factors interacting with BBS proteins. Applying yeast two-hybrid (Y2H) technology we found a series of novel, functionally potentially plausible binding partners of BBS1, BBS2, BBS4, and BBS7. Protein interactions were supported by coimmunoprecipitation analyses (ALDOB, EPAS1) and substantiated by colocalization studies at the subcellular level (ALDOB, EXOC7, FLOT1, KRT18, PAX2). Our work provides new insights into the understanding of BBS interactions and thus their biological function.
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PMID:Novel interaction partners of Bardet-Biedl syndrome proteins. 1800 Aug 79

The health status of 206 female caregivers supporting adults with intellectual and developmental disabilities at home was investigated using objective (i.e., presence of chronic health conditions and activity limitations) and subjective (i.e., self-perceived health status) health measures compared with those of women in the general population in 2 age groups: middle age (Ages 40-59 years) and older ages (> or =60 years). Prevalence of arthritis, high blood pressure, obesity, and activity limitations for the caregivers in both age groups was significantly higher than that for women in the general population. Middle-age caregivers reported a higher prevalence of diabetes and high blood cholesterol than their age peers from the general population. Despite the potential health challenges, the caregivers generally perceived their health better than that of women in the general population. Older caregivers' perceptions on their psychological well being, however, appeared to an exception. Implications regarding potential health risks for caregivers and residential services for persons with intellectual and developmental disabilities are discussed.
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PMID:Health profile of aging family caregivers supporting adults with intellectual and developmental disabilities at home. 2002 Jul 98

It is the position of the American Dietetic Association that nutrition services provided by registered dietitians (RDs) and dietetic technicians, registered (DTRs), are essential components of comprehensive care for all people with developmental disabilities and special health care needs. Nutrition services should be provided throughout life in a manner that is interdisciplinary, family-centered, community-based, and culturally competent. People with developmental disabilities and special health care needs frequently have nutrition concerns, including growth alterations (failure to thrive, obesity, or growth retardation), metabolic disorders, poor feeding skills, medication-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition. Individuals with special needs are also more likely to develop comorbid conditions such as obesity or endocrine disorders that require nutrition interventions. Poor health habits, limited access to services, and long-term use of multiple medications are considered health risk factors. Health maintenance and avoidance of complications can be promoted by timely and cost-effective nutrition interventions. Public policy for individuals with special needs has evolved over time, resulting in a transition from institutional facilities and programs to community living. The expansion of public access to technology and health information on the Internet challenges RDs and DTRs to provide accurate scientific information for those with developmental disabilities and special health care needs. Nationally credentialed RDs and DTRs are best prepared to provide appropriate nutrition information for wellness and quality of life.
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PMID:Position of the American Dietetic Association: Providing nutrition services for people with developmental disabilities and special health care needs. 2011 61


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