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

Monosomy 1p36 may result in a clinically recognizable chromosomal microdeletion syndrome. We report the unexpected death of a 12 year old boy with mildly dysmorphic facial features, short stature at 138 cm (3rd centile), moderate mental retardation and a history of seizures, obesity, transient muscle weakness of the right arm and leg and episodes of transient atonic hemiparesis of the right side of the body. Despite the relatively few congenital anomalies and normal karyotype, the 1p36 deletion was suspected on clinical grounds and was demonstrated by fluorescent in situ hybridisation (FISH). Two months after diagnosis and following a short history of a mild upper airway infection, high fever and severe diarrhea, the patient had a massive circulatory shock and asystolia, resulting in deep coma, brain edema, apallic syndrome and death. To our knowledge there has been no previous report of episodes of transient unilateral muscle weakness and atonic hemiparesis, circulatory shock and sudden death associated with monosomy 1p36.
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PMID:Unexpected death of a 12 year old boy with monosomy 1p36. 1508 95

Neuropeptide Y (NPY) in the central nervous system is a major regulator of food consumption and energy homeostasis. It also regulates blood pressure, induces anxiolysis, enhances memory retention, affects circadian rhythms and modulates hormone release. Five Y receptors (Y1, Y2, Y4, Y5 and Y6) are known to mediate the action of NPY and its two other family members, peptide YY (PYY) and pancreatic polypeptide (PP). Increased NPY signaling due to elevated NPY expression in the hypothalamus leads to the development of obesity and its related phenotypes, Type II diabetes and cardiovascular disease. Dysregulation in NPY signaling also causes alterations in bone formation, alcohol consumption and seizure susceptibility. The large number of Y receptors has made it difficult to delineate their individual contributions to these physiological processes. However, recent studies analysing NPY and Y receptor overexpressing and knockout models have started to unravel some of the different functions of these Y receptors. Particularly, the use of conditional knockout models has made it possible to pinpoint a specific function to an individual Y receptor in a particular location.
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PMID:NPY and Y receptors: lessons from transgenic and knockout models. 1533 71

The peptidic neurotransmitter neuropeptide Y (NPY) has been functionally implicated in feeding behavior, cardiovascular regulation, control of neuroendocrine axes, affective disorders, seizures, and memory retention. At least five different receptors mediate NPY actions. In particular, the Y1 receptor appears to be involved in a variety of NPY-induced pathways. This review summarizes the main findings resulting from the use of mice lacking NPY Y1 receptor expression. Interestingly, the overall phenotype of Y1 knockouts mimics metabolic syndrome, which is characterized by obesity, a prediabetic state, and a susceptibility to develop hypertension.
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PMID:Importance of NPY Y1 receptor-mediated pathways: assessment using NPY Y1 receptor knockouts. 1533 79

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with del(17)(p11.2p11.2). The phenotype is variable even in patients with deletions of the same size. RAI1 has been recently suggested as a major gene for majority of the SMS phenotypes, but its role in the full spectrum of the phenotype remains unclear. Df(11)17/+ mice contain a heterozygous deletion in the mouse region syntenic to the SMS common deletion, and exhibit craniofacial abnormalities, seizures and marked obesity, partially reproducing the SMS phenotype. To further study the genetic basis for the phenotype, we constructed three lines of mice with smaller deletions [Df(11)17-1, Df(11)17-2 and Df(11)17-3] using retrovirus-mediated chromosome engineering to create nested deletions. Both craniofacial abnormalities and obesity have been observed, but the penetrance of the craniofacial phenotype was markedly reduced when compared with Df(11)17/+ mice. Overt seizures were not observed. Phenotypic variation has been observed in mice with the same deletion size in the same and in different genetic backgrounds, which may reflect the variation documented in the patients. These results indicate that the smaller deletions contain the gene(s), most likely Rai1, causing craniofacial abnormalities and obesity. However, genes or regulatory elements in the larger deletion, which are not located in the smaller deletions, as well as genes located elsewhere, also influence penetrance and expressivity of the phenotype. Our mouse models refined the genomic region important for a portion of the SMS phenotype and provided a basis for further molecular analysis of genes associated with SMS.
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PMID:Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. 1545 75

Our objective was to determine the impact of gender and age on asthma hospitalization rates among children. We used a population-based retrospective birth cohort study to determine yearly age- and gender-specific asthma hospitalization rates between ages 2-18 years in a cohort of all children born in Washington State between 1980-1985. In addition, we assessed factors associated with the hospitalization of a given child for asthma both before and during adolescence, and factors associated with an initial asthma hospitalization during adolescence. Outcome measures included age- and gender-specific rates of hospitalization for asthma, diabetes, seizures/epilepsy, and nonasthma respiratory diagnoses. Asthma hospitalization rates for boys were significantly higher than for girls between ages 2-12 years, the gender gap in asthma hospitalizations reversed between ages 13-14 years, and rates for girls were significantly higher than boys between 16-18 years of age. The male peak asthma hospitalization rate per 100,000 cohort members occurred at age 4 years (12.7; 95% confidence interval (CI), 11.1-14.3), and the male trough rate occurred at age 18 years (4.1; 95% CI, 2.8-5.4), whereas the female peak asthma hospitalization rate occurred at age 17 years (9.4; 95% CI, 7.8-11) and the female trough rate at age 2 years (5.2; 95% CI, 4.2-6.2). Age-specific hospitalization rates for diabetes mellitus and epilepsy were similar for boys and girls throughout childhood. Female gender was strongly associated with asthma hospitalization occurring in an individual child both prior to and during adolescence (rate ratio (RR), 2.0; 95% CI, 1.4-2.9), and was modestly associated with initial hospitalization in adolescence (RR, 1.15; 95% CI, 1.0-1.3). In conclusion, asthma hospitalization rates for boys and girls exhibit strikingly different patterns during adolescence. Potential explanations for these gender differences include hormonal changes during puberty, or gender-specific differences in environmental exposures such as diet, obesity, allergen exposure, or cigarette smoking.
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PMID:Impact of adolescence and gender on asthma hospitalization: a population-based birth cohort study. 1569 May 59

Piracetam, a derivative of gamma-aminobutyric acid (GABA), has been used extensively for treatment of myoclonus in a variety of conditions, but not in patients with idiopathic generalized epilepsy (IGE). We have treated a patient with juvenile myoclonic epilepsy who had frequent and inconvenient morning myoclonus with 3,200 mg of piracetam daily. She had had only two generalized tonic-clonic seizures, with the last seizure 10 years earlier. Her obesity precluded the use of sodium valproate. She had a dramatic response to piracetam with sustained cessation of myoclonus and no side effects during 1.5 years' follow-up. Further trials of piracetam for control of myoclonus in patients with IGE are justified.
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PMID:Antimyoclonic efficacy of piracetam in idiopathic generalized epilepsy. 1602 69

Evidence is reviewed that the consequences of group 1 metabotropic glutamate receptor (Gp1 mGluR) activation are exaggerated in the absence of the fragile X mental retardation protein, likely reflecting altered dendritic protein synthesis. Abnormal mGluR signaling could be responsible for remarkably diverse psychiatric and neurological symptoms in fragile X syndrome, including delayed cognitive development, seizures, anxiety, movement disorders and obesity.
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PMID:Therapeutic implications of the mGluR theory of fragile X mental retardation. 1609 37

Seizures were induced in female Wistar albino rats at either 35 or 55 days of age with a single systemic injection of lithium (3 mEq/kg) and pilocarpine (30 mg/kg); the rats were then treated with the atypical neuroleptic acepromazine (25 mg/kg). These rats manifested progressive weight gain for the rest of their lives. The effect was conspicuous by casual observation 6 weeks after treatment and occurred primarily in those rats that later developed spontaneous seizures. After 1 year, the rats were obese (>1000 g). Such weight gains, associated with almost three times the serum triglyceride levels, were not observed in male rats and have not been observed in hundreds of female rats that received this treatment as adults. Single postseizure injections of ketamine rather than acepromazine did not produce this obesity; the weights of these rats were similar to those of normal littermates. These results indicate that a single injection of a neuroleptic during limbic seizures before puberty can produce neuronal alterations that contribute to a lifetime of obesity.
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PMID:Extreme obesity in female rats following prepuberal induction of lithium-pilocarpine seizures and a single injection of acepromazine. 1610 18

Epilepsy is a chronic disorder that has been associated with other specific health problems. Evidence from recent clinical and basic investigations indicates that aspects of cerebral dysfunction associated with a lowered seizure threshold may also predispose toward other disorders such as depression, cognitive impairment, sleep disorders, and migraine. Similarly, certain types of brain injury may also increase the risk of adverse antiepileptic drug (AED) effects. For example, a history of febrile seizures is associated with a three fold increase in the occurrence of negative psychiatric effects of two newer AEDs. Poor fitness and obesity are also reported at higher rates in epilepsy. Some comorbid conditions in epilepsy, such a depression and anxiety, may have a greater influence on subjective health status than does seizure rate. Management strategies employed in the outpatient clinic to maximize overall health outcomes should include screening and treatment for the commonly coexistent conditions in persons with epilepsy.
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PMID:Epilepsy and common comorbidities: improving the outpatient epilepsy encounter. 1612 Apr 91

The WHO announced diabetes mellitus as one of the main threats to human health in the 21st century. In children and adolescents the prevalence of both the autoimmune type 1 and the obesity-related type 2 diabetes is increasing. Common to all types of diabetes is an absolute or relative lack of insulin to keep glucose homeostasis under control. Thus children and adolescents with newly diagnosed diabetes present with hyperglycemia which is often accompanied by ketoacidosis bearing the risk of cerebral edema. Children and adolescents with known diabetes treated with insulin or orale antidiabetic agents may also suffer from hyperglycemia or even ketoacidosis during times of non-compliance with diet and drugs or during concomitant illnesses. Hyperglycemia with ketoacidosis is an emergency situation for which patients need to be admitted to the next hospital for administration of insulin, fluids and potassium. In contrast, insulin treatment in diabetic patients may also lead to a hypoglycemia, the sudden drop in blood glucose, at any moment. Thus recognition and correction of mild hypoglycemia should be familiar to every diabetic child and their caretaker. Severe hypoglycemia with or without seizures may bring the diabetic child in a sudden emergency situation for which the administration of glucagon intramuscularly or glucose intravenously is mandatory. After every severe hypoglycemia the insulin and diet regimen of the diabetic child or adolescent must be reviewed with the diabetes specialist. For unexplained hypoglycemia or major treatment adjustments the diabetic child or adolescent may need to be readmitted to the diabetic ward of a hospital to avoid repeat, potentially life-threatening hypoglycemia.
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PMID:[The diabetic child in the emergency room]. 1613 23


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