Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0948265 (metabolic syndrome)
24,271 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a 4 years old boy, hospitalized for an unexplained coma, is reported. He is the first child of a non-consanguin couple. The psychomotor development of this child was considered as normal up to the age of 18 months; then, a delay in language development, behaviour disorders with an important instability interrupted by episodes of somnolence, were observed. This child was treated for psychotic disorders. At the age of 3 and half, he had two episodes of seizures associated with fever. He was hospitalized for a 24 hours coma (4 years old). An hepatomegaly and a dry, brittle hair were then observed. Hyperammonemia was made obvious by a protein tolerance test. The diagnosis of argininosuccinate lyase (ASAL) deficiency was based on the increased levels of ASA in plasma and urine. The deficiency was proved by a fibroblast culture. With protein restriction, hepatomegaly disappeared, hair became normal, the behaviour disorders and the delay in language development was improved. However, some school difficulties persist. This case shows that an hereditary metabolic syndrome can be revealed by psychotic like symptoms in childhood.
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PMID:[Argininosuccinic aciduria. A new case revealed by psychiatric disorders]. 271 82

Possibly the most important outcomes of bariatric surgery involve changes in obesity-related illness, quality of life (QOL), and psychologic well-being. Dramatic improvement or resolution of serious medical comorbidity accompanies the weight loss following laparoscopic adjustable gastric banding with the LAP-BAND (INAMED Health, Santa Barbara, CA). There are major improvements in the conditions of the metabolic syndrome, which is characterized by impaired glucose tolerance, dyslipidemia, and hypertension. Improvement in insulin sensitivity and pancreatic beta-cell function associated with weight loss induces remission in the majority of type 2 diabetics and reduces the risk of others developing type 2 diabetes. Improvement in dyslipidemia is characterized by raised high-density lipoprotein cholesterol and lower triglyceride concentrations. Together with lower blood pressure, these changes provide a substantial reduction in cardiovascular risk. Other medical conditions caused or aggravated by obesity are also significantly improved, including sleep apnea, daytime sleepiness, asthma, and gastroesophageal reflux. Weight loss is associated with improved fertility and more favorable pregnancy outcomes. All aspects of QOL improve substantially, especially physical disability, and post-weight-loss QOL measures approximate those of the general population. There are also major improvements in body image and reduction in depressive illness. These changes provide perhaps the most compelling data regarding the value of LAP-BAND surgery and underlie the great satisfaction experienced by patients.
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PMID:Changes in comorbidities and improvements in quality of life after LAP-BAND placement. 1252 52

To investigate the impact of obstructive sleep apnea syndrome (OSAS) on testosterone levels and on the main parameters of the metabolic syndrome in abdominally obese men, 15 male subjects with abdominal obesity phenotype and polysomnographic diagnosis of OSAS (OB-OSAS) and 15 controls matched for age and anthropometric parameters (OB) were investigated. Anthropometry, SHBG, sex hormones and several parameters of the metabolic syndrome were measured. Only subjects with an Epworth Sleepiness Score greater than 10 underwent a polysomnographic study with calculation of the number of desaturation rates per sleeping hour (ODI), the minimal oxygen saturation during each desaturation episode (minSaO2) and the mean minimal arterial oxygen saturation for the whole night period (MminSaO2). Both total and free testosterone levels were lower in OB-OSAS than in OB patients. A negative correlation between polysomnographic parameters (ODI, minSaO2 and MminSaO2) and testosterone levels was found. The relationship between total and free testosterone and ODI persisted after adjusting for body mass index (BMI) and waist (W) values. Triglyceride and uric acid levels were significantly higher in OB-OSAS than in OB patients. A negative correlation between testosterone and acid uric level and a positive correlation between testosterone and HDL-cholesterol level was found, regardless of BMI and W circumference, particularly in the OB-OSAS group. Our study suggests that, in patients with obesity and OSAS, the severity of hypoxia during sleeping hours may be an additional factor in reducing testosterone levels, regardless of BMI and abdominal fatness. This may contribute in worsening metabolic abnormalities which, in men with OSAS, exceed those expected on the basis of degree of obesity and pattern of fat distribution.
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PMID:Testosterone levels in obese male patients with obstructive sleep apnea syndrome: relation to oxygen desaturation, body weight, fat distribution and the metabolic parameters. 1295 59

Obstructive sleep apnea (OSA) is a prevalent disorder particularly among middle-aged, obese men, although its existence in women as well as in lean individuals is increasingly recognized. Despite the early recognition of the strong association between OSA and obesity, and OSA and cardiovascular problems, sleep apnea has been treated as a 'local abnormality' of the respiratory track rather than as a 'systemic illness.' In 1997, we first reported that the pro-inflammatory cytokines interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNFalpha) were elevated in patients with disorders of excessive daytime sleepiness (EDS) and proposed that these cytokines were mediators of daytime sleepiness. Also, we reported a positive correlation between IL-6 or TNFalpha plasma levels and the body-mass-index (BMI). In subsequent studies, we showed that IL-6, TNFalpha, and insulin levels were elevated in sleep apnea independently of obesity and that visceral fat, was the primary parameter linked with sleep apnea. Furthermore, our findings that women with the polycystic ovary syndrome (PCOS) (a condition associated with hyperandrogenism and insulin resistance) were much more likely than controls to have sleep disordered breathing (SDB) and daytime sleepiness, suggests a pathogenetic role of insulin resistance in OSA. Other findings that support the view that sleep apnea and sleepiness in obese patients may be manifestations of the Metabolic Syndrome, include: obesity without sleep apnea is associated with daytime sleepiness; PCOS and diabetes type 2 are independently associated with EDS after controlling for SDB, obesity, and age; increased prevalence of sleep apnea in post-menopausal women, with hormonal replacement therapy associated with a significantly reduced risk for OSA; lack of effect of continuous positive airway pressure (CPAP) in obese patients with apnea on hypercytokinemia and insulin resistance indices; and that the prevalence of the metabolic syndrome in the US population from the Third National Health and Nutrition Examination Survey (1988-1994) parallels the prevalence of symptomatic sleep apnea in general random samples. Finally, the beneficial effect of a cytokine antagonist on EDS in obese, male apneics and that of exercise on SDB in a general random sample, supports the hypothesis that cytokines and insulin resistance are mediators of EDS and sleep apnea in humans. In conclusion, accumulating evidence provides support to our model of the bi-directional, feed forward, pernicious association between sleep apnea, sleepiness, inflammation, and insulin resistance, all promoting atherosclerosis and cardiovascular disease.
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PMID:Sleep apnea is a manifestation of the metabolic syndrome. 1589 51

Obstructive sleep apnoea (OSA) is a cardio-metabolic disorder. Whether metabolic syndrome (MS), insulin resistance (IR) and albuminuria are independently associated with OSA is unclear, but defining the interactions between OSA and various cardiovascular (CV) risk factors independent of obesity facilitates the development of therapeutic strategies to mitigate their increased CV risks. We prospectively recruited 38 subjects with OSA and 41 controls. Anthropometric measurements, glucose, lipids, insulin and blood pressure (BP) were measured after an overnight fast. IR state was defined as homeostasis model assessment (HOMA) value >3.99 and MS diagnosed according to the International Diabetes Federation (IDF) criteria. Subjects with OSA were more obese, more insulin resistant, more hyperglycaemic, had higher Epworth score (measure of day time somnolence) and systolic blood pressure levels. The prevalence of MS was higher in OSA compared with non-OSA subjects (74% vs 24%, p < 0.001). The prevalence of microalbuminuria in both groups was negligible. Logistic regression adjusted for age, BMI and smoking showed that the patient with OSA was 5.9 (95% CI 2.0-17.6) times more likely to have MS than non-OSA patient. Triglyceride (p = 0.031), glucose (0.023) and Epworth score (0.003) values were independently associated with OSA after adjusting for BMI and other covariates whilst IR status was found not to be significant. Using the ROC curve analysis, we found that a waist circumference of >103 cm would predict MS in patients with OSA at 75-78% sensitivity and 61-64% specificity. The agreement between MS and IR state in this cohort is poor. Thus, OSA is associated with MS independent of obesity predominantly due to increased triglyceride, glucose and Epworth score values but not IR or microalbuminuria status. This observation suggests an alternative pathogenic factor mediating the increased cardiovascular risk in patients with OSA and MS, other than that due to IR. The independent link between Epworth score and MS in patients with OSA implicates the role of daytime sleepiness and chronic hypoxia as a potential mediator. Given the discordant between MS and IR state, measurement of waist is useful for predicting mainly MS but not insulin resistance status in patients with OSA. Appropriate pharmacological intervention targeting these independent factors is important in reducing the increased CV risks among patients with OSA.
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PMID:Obstructive sleep apnoea is independently associated with the metabolic syndrome but not insulin resistance state. 1707 84

In 2003 were promulgated the texts regulating rest and safety, in the USA (approved by the ACGME) and in France (January 9th, 2001 and September 14th, 2001). The institution of the "rest for safety", an eleven hours duration interruption of activity, immediately after a night-call, can be viewed as a progress in the search for safety. Several studies showed a link between excessive work hours and occurrence of medical incidents related to tiredness. However published data do not show a link between tiredness and patients endangering. The tiredness resulting from sleep deprivation and disturbances in circadian rhythms is a cumulative phenomenon erased by a period of rest. In spite of a large individual variability, tiredness increases anxiety scores, irritability, depression and it deteriorates cognitive performances. The concept of "prophylactic" rest considers that a subject cannot start, rested, a work if he did not sleep at least 5 hours the previous night, or 12 hours during the previous 48 hours. The second important aspect of the rest for safety is the long-term prevention of potential pathologies in medical staff, in particular burnout syndrome. In our profession, night calls are considered most stressful; the psychological stress related to anticipation and night context causes measurable cardiovascular disturbances in anesthesiologists. Shift-work sleep disorders may induce gastric ulcers, heart attacks, metabolic syndrome, depression and accidents related to somnolence. Long duration work-hours, accompanied by sleep deprivation, may double the risk of car accidents in junior physicians, in whom vigilance levels can compare with those of patients concerned by narcolepsy or with the cognitive disturbances induced by alcohol intoxication. Reduced work-hours improve vigilance and divide by three the rate of serious medical errors. True opportunities of sleep and control of sleep duration at the individual level could be suggested. The idea that taking the necessary rest would be synonymous with a decrease of efficiency in patient care is not demonstrated, but the danger of a poorer information transmission should be handed with an optimization of our manpower and organization. Aging is accompanied by a progressive disorganization of sleep. The foreseeable shortage of manpower, synonymous with aging of the medical actors and increased vulnerability to tiredness, is a posteriori the justification of the institution of the rest for safety.
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PMID:[Rest for safety: which stakes?]. 1748 45

This paper presents data evidence supporting the value of diagnosing and treating obstructive sleep apnea (OSA) in reducing morbidity and mortality, improving comorbid disease processes, and improving patient quality of life. These data are derived from a PubMed-based meta-analysis of recent cost effectiveness, standards of practice, and epidemiological studies of OSA, which are ranked using a hierarchical strength of recommendation taxonomy. Cost and health care utilization data have been calculated for OSA and hypersomnolence as well as for diagnostic testing. Strong evidence (which is indicated by a strength of recommendation rating of "A") exists for the association of adult OSA with obesity, daytime sleepiness, hypertension, and motor vehicular accidents. Strong evidence also exists for requiring full-night or split-night attended polysomnography (PSG) for the diagnosis and treatment of adult OSA and for patients with systolic or diastolic heart failure not responding to optimal medical management. Good evidence (B) exists for the association of adult OSA with congestive heart failure, coronary artery disease, cerebral vascular accidents, metabolic syndrome, and increased mortality. Good evidence also exists to indicate that the nonattended PSG can be used to diagnose sleep breathing disorders, that autotitration systems can be used to titrate continuous positive airway pressure (CPAP) therapy, and that the multiple sleep latency test can be used in the assessment of daytime sleepiness.
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PMID:Obstructive sleep apnea (OSA) in primary care: evidence-based practice. 1761 20

Hypersomnia is a significant problem in about 5% of the general population. We discussed clinical aspects in 3 patients with hypersomnia diagnosed in our sleep laboratory. All of the patients, both obese and non-obese, presented abnormal oral glucose tolerance test (OGTT) and plasma insulin level. (1) A 17-year-old girl (BMI = 20.3) with a two-year history of daytime sleep attacks (e.g. on the bus, in a classroom, while reading or eating), followed by refreshed feeling. The first symptoms appeared 2 years after spine injury (L2-L3). Total sleep time was > 98 perc. The diagnosis of narcolepsy was confirmed by sleep-onset REM periods in 3 of 4 daytime naps (positive Multiple Sleep Latency Tests) and HLA-DQB1 (alleles *0201, *0602). (2) A 16-year-old girl (BMI = 32.4) with a history of increased sleepiness (Epworth Sleepiness Scale score = 13), not refreshing naps, along with BMI increase, since the age of 13. The metabolic syndrome was diagnosed based on the presence of obesity, hypercholesterolemia (CH = 240 mg/dl, HDL-CH = 49 mg/dl) and insulin resistance (HOMA index = 6.75, hyperinsulinemia--367 microU/mL at 30' after OGTT). (3) A 6-year-old boy (BMI = 16.0) with a 10-month history of daytime sleep attacks and postprandial sleepiness; nocturnal enuresis, high simple carbohydrate diet, low plasma insulin level after OGTT. Diagnosis of food-related hypersomnia and obstructive sleep apnea was confirmed when the boy recovered after his nutrition habits had been changed, which resulted in decreased respiratory disturbance index (RDI) from 17.7/h in October 2005 to 2.9/h in October 2006. Within that time his parents did not observe any episodes of daytime sleepiness, irritability or nocturnal enuresis.
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PMID:Narcolepsy, metabolic syndrome and obstructive sleep apnea syndrome as the causes of hypersomnia in children. Report of three cases. 1822 67

Habitually insufficient sleep could contribute towards obesity, metabolic syndrome, etc., via sleepiness-related inactivity and excess energy intake; more controversially, through more direct physiological changes. Epidemiological studies in adult/children point to small clinical risk only in very short (around 5h in adults), or long sleepers, developing over many years, involving hundreds of hours of 'too little' or 'too much' sleep. Although acute 4h/day sleep restriction leads to glucose intolerance and incipient metabolic syndrome, this is too little sleep and cannot be sustained beyond a few days. Few obese adults/children are short sleepers, and few short sleeping adults/children are obese or suffer obesity-related disorders. For adults, about 7h uninterrupted daily sleep is 'healthy'. Extending sleep, even with hypnotics, to lose weight, may take years, compared with the rapidity of utilising extra sleep time to exercise and evaluate one's diet. The real health risk of inadequate sleep comes from a sleepiness-related accident.
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PMID:Short sleep is a questionable risk factor for obesity and related disorders: statistical versus clinical significance. 1824 80

Obstructive sleep apnea-hypopnea syndrome involves recurring episodes of total obstruction (apnea) or partial obstruction (hypopnea) of airways during sleep. Obstructive sleep apnea-hypopnea syndrome affects mainly obese individuals and it is defined by an apnea-hypopnea index of five or more episodes per hour associated with daytime somnolence. In addition to anatomical factors and neuromuscular and genetic factors, sleep disorders are also involved in the pathogenesis of sleep apnea. Obesity affects upper airway anatomy because of fat deposition and metabolic activity of adipose tissue. Obstructive sleep apnea-hypopnea syndrome and metabolic syndrome have several characteristics such as visceral obesity, hypertension and insulin resistance. Inflammatory cytokines might be related to the pathogenesis of sleep apnea and metabolic syndrome. Sleep apnea treatment includes obesity treatment, use of equipment such as continuous positive airway pressure, drug therapy and surgical procedures in selected patients. Currently, there is no specific drug therapy available with proven efficacy for the treatment of obstructive sleep apnea-hypopnea syndrome. Body-weight reduction results in improvement of sleep apnea, and obesity treatment must be emphasized, including lifestyle changes, anti-obesity drugs and bariatric surgery.
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PMID:Obesity and obstructive sleep apnea-hypopnea syndrome. 1836 35


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