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

More than 20 syndromes among the significant and increasing number of degenerative diseases of neuronal tissues are known to be associated with diabetes mellitus, increased insulin resistance and obesity, disturbed insulin sensitivity, and excessive or impaired insulin secretion. This review briefly presents such syndromes, including Alzheimer disease, ataxia-telangiectasia, Down syndrome/trisomy 21, Friedreich ataxia, Huntington disease, several disorders of mitochondria, myotonic dystrophy, Parkinson disease, Prader-Willi syndrome, Werner syndrome, Wolfram syndrome, mitochondrial disorders affecting oxidative phosphorylation, and vitamin B(1) deficiency/inherited thiamine-responsive megaloblastic anemia syndrome as well as their respective relationship to malignancies, cancer, and aging and the nature of their inheritance (including triplet repeat expansions), genetic loci, and corresponding functional biochemistry. Discussed in further detail are disturbances of glucose metabolism including impaired glucose tolerance and both insulin-dependent and non-insulin-dependent diabetes caused by neurodegeneration in humans and mice, sometimes accompanied by degeneration of pancreatic beta-cells. Concordant mouse models obtained by targeted disruption (knock-out), knock-in, or transgenic overexpression of the respective transgene are also described. Preliminary conclusions suggest that many of the diabetogenic neurodegenerative disorders are related to alterations in oxidative phosphorylation (OXPHOS) and mitochondrial nutrient metabolism, which coincide with aberrant protein precipitation in the majority of affected individuals.
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PMID:Neurodegenerative disorders associated with diabetes mellitus. 1517 61

Snoring and obstructive sleep apnea are a frequent problem not only in adults, but also in children and adolescents, as can be seen from current epidemiological data. The epidemiology, etiology, diagnosis, and management of obstructive sleep apnea syndrome (OSAS) in adults have been adequately established on the basis of evidential data. As a result of this, both physicians and the public are increasingly aware of OSAS in adults. Although there are numerous parallels between pediatric and adult OSAS, the situation in children differs that in adults. There is a greater variety of symptoms in children with OSAS, diagnosis is often more difficult with serious consequences for growth and development of children. Treatment of OSAS in children is also different from that of the adult patient. There are many possible causes for the development of obstructive sleep apnea in children. These include hypertrophy of the tonsils and syndromes such as Down syndrome, Pickwickian syndrome, Prader-Willi syndrome or Marfan syndrome. OSAS can, however, also be the result of obesity, midfacial dysplasia, retro- or micrognathia, allergic rhinitis or muscular dystrophy. Epidemiological data presented in the literature concerning the incidence of OSAS in children is extremely varied. This wide range is probably due to the fact that snoring may be misdiagnosed as OSAS. The diagnosis of OSAS in children may only be made by considering clinical history (such as rate of growth, tendency to fall asleep during the day, sleep disturbances, susceptibility to infection, etc.), polysomnography (if possible during several nights) and accompanying instrumental diagnosis including cephalometry or laryngoscopy. One of the problems of polysomnography in childhood is that performance and interpretation of the results have not yet been standardized or evaluated for different age groups. Treatment depends on the cause of OSAS and require multidisciplinary management involving the pediatrician, pediatric or adolescent psychiatrist, ear, nose, and throat specialist, maxillofacial surgeons, and neurosurgeons. Adenotonsillectomy (ATE) is the therapy generally chosen if the child has adenoidal vegetations and/or tonsillar hypertrophy. Corrective surgery is possible for rare malformation syndromes. Nocturnal masks for continuous positive airway nasal pressure or procedures for mask respiration are effective in children, but are only used in exceptional cases, such as when ATE is contraindicated or when symptoms of OSAS remain after surgery. The success of pharmacological treatment of OSAS in children has not been evaluated in controlled clinical trials.
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PMID:Obstructive sleep apnea syndrome in children: a state-of-the-art review. 1518 12

The attenuated heart rate (HR) and blood pressure (BP) response to exercise in individuals with Down syndrome (DS) has been attributed to autonomic dysfunction, which has been associated with obesity. Our purpose was to determine the role of autonomic control of HR to the attenuated chronotropic response observed in individuals with DS. We evaluated spectral analysis of HR variability (HRV) in 13 individuals with (BMI 32+/-5 kg/m(2), P<0.05) and 14 without DS (BMI 26+/-3 kg/m(2)) by means of 2 min isometric handgrip at 30% of maximal force followed by recovery. Noninvasive measures of HR (ECG) and systolic BP (SBP) (Portapres) were recorded continuously. The increases in HR and SBP, and decrease in high frequency (HF) component were significantly greater in controls than in individuals with DS (P<0.05) during handgrip. The increase in LF/HF ratio was not significantly affected by handgrip and was comparable in both groups. During recovery, the decreases in HR, SBP, and LF/HF ratio, and the increase in HF were significantly greater in controls than in individuals with DS (P<0.05). Controlling for BMI did not alter these results. The attenuated HR and SBP response to the handgrip test in individuals with DS is explained by blunted vagal modulation. Our study suggests that autonomic dysfunction in individuals with DS might be independent of obesity.
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PMID:Impaired vagal modulation of heart rate in individuals with Down syndrome. 1576 2

Cholelithiasis in infants, children and adolescents is rare, with a prevalence rate of less than 0.5%. The aim of this study was to determine the association between Down syndrome (DS) and cholelithiasis. We conducted a prospective, controlled study on 51 subjects (age range 11-20 years old) to assess the risk factors of cholelithiasis in children and adolescents with Down syndrome. The subjects recruited in the study consisted of 51 children with Down syndrome and 253 children in the control group. There was no statistical difference in gender and age between the DS and control groups. Gallstone disease was detected in 2 females, aged 17 and 19 years old, respectively. None had cholelithiasis in the control group. The result showed that children with DS had significantly higher prevalence of cholelithiasis (3.92%) compared with controls (0%) (p < 0.01). The overall prevalence of overweight and obesity in DS group was 83%, which was significantly higher than 20% in the control group (p < 0.01). Chromosome anomaly and overweight were two significant risk factors for cholelithiasis. Clinicians should be aware of increased risk of cholelithiasis in children with DS.
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PMID:Cholelithiasis in Down syndrome. 1586 6

This "Endocrinologic health care guide" was prepared for individuals with Down syndrome. We hope this will serve as a reference for primary care physicians. We presented clinical characteristics, laboratory issues and treatment of children with Down syndrome and endocrinologic problems: abnormalities of thyroid function, obesity, diabetes mellitus, obesity, fertility control.
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PMID:[Endocrinologic problems in children with Down syndrome]. 1605 25

Resting metabolic rate (RMR) of 22 individuals with Down syndrome was compared to that of 20 nondisabled control individuals of similar age (25.7 and 27.4 years, respectively). Using a ventilated hood system, we measured RMR in the early morning after an overnight fast. Peak aerobic capacity (VO2peak) and body composition were also determined. Resting metabolic rate was not different between groups. Adjusting RMR for body weight or body surface area did not change these findings. Using stepwise regression for the total population and each subgroup, we found that only body surface area was a significant predictor of RMR. These data show that individuals with Down syndrome do not have lower RMR than their nondisabled peers, suggesting that reduced RMR does not explain the high incidence of obesity in this population.
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PMID:Resting metabolic rate is not reduced in obese adults with Down syndrome. 1626 7

Our goal in this study was to compare cardiac autonomic control at rest between 50 individuals with Down syndrome and 24 control participants without disabilities. Resting autonomic function was assessed using analysis of heart rate variability. Participants with Down syndrome had reduced total heart rate variability, which indicates possible autonomic dysfunction in this population. Their VO2 peak and BMI were not significantly correlated with resting cardiac autonomic control. This may suggest that fitness level and obesity differentially affect cardiac autonomic control in persons with Down syndrome compared to their healthy, nondisabled peers.
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PMID:Cardiac autonomic control in individuals with Down syndrome. 1633 54

Sleep-related breathing disorders require special attention in children who spend a considerable time sleeping. Obstructive sleep apnea syndrome is characterized by episodes of upper airway obstruction during sleep. Symptoms include hyperactivity, enuresis, headache, failure to thrive, and increased respiratory effort and total sleep time. The most common cause is adenotonsillar hypertrophy. Coexisting diseases are obesity, neuromuscular and craniofacial anomalies, and Down's syndrome. Early diagnosis is important to minimize neurocognitive, cardiac and developmental complications. Polysomnography is the gold standard for diagnosis. Although the features of pediatric obstructive sleep apnea syndrome are distinctly different from that in adults, it may predispose to the adult type of the syndrome. As therapy concerns several surgical approaches as well as conservative techniques, anesthetic management calls for particular attention. Pre- and postoperative sedation must be performed cautiously and patients must be watched closely with respect to airway obstruction and hypoventilation. Difficult intubation must always be considered.
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PMID:Pediatric obstructive sleep apnea syndrome and anesthetic management. 1636 45

This paper will suggest that the Down syndrome phenotype would have been well suited, physiologically, for a deprived environment and that it may represent a predictive, adaptive response to severe maternal deprivation. A trisomy of the 21st chromosome, prior to, or at conception is responsible for Down syndrome and is known to increase in incidence with advanced maternal age. One out of 11 mothers over the age of 50 conceives a Down syndrome baby, compared to one in one thousand at age 30. This article emphasizes that an older mother is more likely to die before she is able to provide the parental investment necessary to produce an ecologically self-sufficient offspring. Prolonged maternal investment is known to be essential for hunter-gatherers to master the skill intensive food procurement techniques that they will need in order to become independent of their mothers. Because Down syndrome individuals are much more likely to be born to older mothers, they must have been routinely deprived of maternal investment in the human environment of evolutionary adaptedness. This consistent paring of maternal deprivation to trisomy 21 conceptions, over time, may have caused natural selection to favor genes responsible for the energy conserving traits seen in modern day Down syndrome. These traits include muscle hypotonia, decreased cerebral metabolism, decreased hippocampal volume, a strong propensity for obesity and growth hormone and thyroid hormone paucity. Such a "thrifty phenotype" may have allowed Down syndrome individuals to become independent of their mothers at a far earlier age and allowed them to forgo the skill intensive ecological niche that non-trisomic humans are phenotypically suited for in order to take up a less cognitively and physically rigorous one.
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PMID:Evolutionary neuropathology and Down syndrome: an analysis of the etiological and phenotypical characteristics of Down syndrome suggests that it may represent an adaptive response to severe maternal deprivation. 1673 81

The present study was undertaken to evaluate the nutritional status of children with special needs in Alexandria city, on the basis of anthropometric measures. The following variables were determined in a sample of 278 disabled children (171 males, 107 females) aged 6 to 24 years, recruited from five specialized day care centers for retarded children in Alexandria: birth order, type of disability, socioeconomic status, body weight, height, body mass index (BMI) and hemoglobin level. Mentally retarded children represent the highest proportion of subjects followed by Down's syndrome and autism. There is an increase in the mean body weight of males with the increase in age among the three type of disability except at age from 14 to 18 years, while there is a fluctuation in the mean body weight between ages and disability among females. Down syndrome groups at all ages are shorter than the other groups, while disabled males are taller than females at all ages. Based on BMI for age, the incidence of obesity was higher among Down's syndrome and mentally retarded females and among autistic males (19.8%, 16.1% of males versus 15.8%, 6.7% of females with mental retardation and autism were underweight). Majority of subjects have mild degree anemia. Hemoglobin levels below the cut-off levels issued by WHO were found higher among autistic and mentally retarded females. The levels were comparable among males with autism and mental retardation and among Down's syndrome males and females. The results also revealed that underweight, overweight and obesity were more common in subjects who showed an evidence of anemia.
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PMID:Assessment of the nutritional status of children with special needs in Alexandria. Part II: Anthropometric measures. 1726 6


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