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

Modern nephrology has become one of the liveliest and most productive branches of medicine. Once seen as a temporary means of rescue from uremic coma, hemodialysis (HD) has allowed thousands of people with irreversible uremia to survive for many years, and evolving treatment modalities have led to a significant increase in efficacy and tolerability. At the same time, two other forms of renal replacement therapy (RRT) have been developed: peritoneal dialysis (PD) and renal transplantation. The number of end-stage renal disease (ESRD) patients requiring RRT has increased dramatically throughout the world for a number of reasons: the improved survival of patients affected by other diseases, a real increase in the incidence of chronic kidney disease (CKD) mainly due to the burden of 'metabolic syndrome', and the significant broadening of RRT acceptance criteria. This last factor means that RRT has become available to increasing numbers of elderly patients, diabetics and patients with other severe comorbidities, among whom the leading cause of death is cardiovascular disease (CVD). However, nephrology is not just a case of substituting the function of failing kidneys; it also covers the treatment of glomerular diseases, slowing down CKD progression and managing the related comorbidities, all of which have substantially improved over the last 40 yrs.
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PMID:Nephrology: main advances in the last 40 years. 1652 19

Mitochondrial dysfunction is a major mechanism of liver injury. A parent drug or its reactive metabolite can trigger outer mitochondrial membrane permeabilization or rupture due to mitochondrial permeability transition. The latter can severely deplete ATP and cause liver cell necrosis, or it can instead lead to apoptosis by releasing cytochrome c, which activates caspases in the cytosol. Necrosis and apoptosis can trigger cytolytic hepatitis resulting in lethal fulminant hepatitis in some patients. Other drugs severely inhibit mitochondrial function and trigger extensive microvesicular steatosis, hypoglycaemia, coma, and death. Milder and more prolonged forms of drug-induced mitochondrial dysfunction can also cause macrovacuolar steatosis. Although this is a benign liver lesion in the short-term, it can progress to steatohepatitis and then to cirrhosis. Patient susceptibility to drug-induced mitochondrial dysfunction and liver injury can sometimes be explained by genetic or acquired variations in drug metabolism and/or elimination that increase the concentration of the toxic species (parent drug or metabolite). Susceptibility may also be increased by the presence of another condition, which also impairs mitochondrial function, such as an inborn mitochondrial cytopathy, beta-oxidation defect, certain viral infections, pregnancy, or the obesity-associated metabolic syndrome. Liver injury due to mitochondrial dysfunction can have important consequences for pharmaceutical companies. It has led to the interruption of clinical trials, the recall of several drugs after marketing, or the introduction of severe black box warnings by drug agencies. Pharmaceutical companies should systematically investigate mitochondrial effects during lead selection or preclinical safety studies.
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PMID:Mitochondrial involvement in drug-induced liver injury. 2002 Feb 67

Glucose is the main energy source of the body's cells and is essential for normal metabolism. Two pancreatic hormones, insulin and glucagon, are involved in glucose home-ostasis. Alteration in the plasma glucose and insulin concentrations could lead to distinct symptoms and diseases, ranging from mental function impairment to coma and even death. Type 2 diabetes, insulin resistance and metabolic syndrome are typical examples of abnormal glucose metabolism that increase the risk for cardiovascular disease and mortality. The oral glucose tolerance test (OGTT) is a medical test used to screen for prediabetes, type 2 diabetes and insulin resistance. In the 5-sample 2-hour OGTT, plasma glucose and insulin concentrations are measured after a fast and then after oral intake of glucose, at intervals of 30 minutes. In this work, a statistical analysis is carried out to find significant differences between the five stages of the OGTT for plasma glucose and insulin data. In addition, the behavior of the glucose and insulin data is compared between subjects with the metabolic syndrome and marathon runners. Results show that marathon runners have plasma glucose and insulin levels significantly lower (p <; 0.05) than people with the metabolic syndrome in all the stages of the OGTT. Insulin secretion decreases in marathon runners due to a significant reduction in plasma glucose concentration, but insulin secretion does not decrease in metabolic syndrome subjects due to insulin resistance, consequently plasma glucose concentration does not achieve normal levels.
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PMID:Comparing glucose and insulin data from the two-hour oral glucose tolerance test in metabolic syndrome subjects and marathon runners. 2832 22

The exhumation of Danish astronomer Tycho Brahe (1546-1601) was performed in 2010 to verify speculative views on the cause of his death. Previous analyses of skeletal and hair remains recovered from his grave refuted the presumption that he died from poisoning. These studies also outlined the possibility that he actually died from an acute illness, echoing the rather vague and inaccurate testimony of some historical records. We performed a detailed paleopathological analysis of Tycho Brahe's skeletal remains, along with a reconstruction of his diet based on carbon and nitrogen stable isotopes analysis and an estimate of his physical status (relative body fat) based on medullar and cortical dimensions of the femoral shaft. The astronomer's remains exhibit bone changes indicative of diffuse idiopathic skeletal hyperostosis (DISH). The study further allows us to classify him as obese (100% reliability according to our decision tree designed from Danish males), and points out his rich diet (high input of animal protein and/or marine resources) and high social status. Comorbidities of DISH and obesity are reviewed, and their influence on health status is discussed. We further consider some conditions associated with metabolic syndrome as possible causes of Tycho Brahe's final symptoms (urinary retention, renal failure and coma), including diabetes, alcoholic ketoacidosis and benign prostatic hypertrophy. Although a definite and specific diagnosis cannot be established, our study points to today's civilization diseases often associated with DISH and metabolic syndrome as the possible cause of death of Tycho Brahe.
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PMID:Rich table but short life: Diffuse idiopathic skeletal hyperostosis in Danish astronomer Tycho Brahe (1546-1601) and its possible consequences. 2967 61

Background Blood pressure variability (BPV) is a modifiable risk factor for stroke. This study was performed to determine the prognostic role of BPV in patients with acute hemorrhagic stroke. Methods The data of 131 hospitalized hypertensive patients with spontaneous intracerebral hemorrhage (sICH) were collected. All patients underwent examinations using several neurological scales (Glasgow Coma Scale, National Institutes of Health Stroke Scale, and modified Rankin scale [mRS]) and BP measurements at different time points. Results Sex, age, hematoma volume, and neurological scores were not significantly different between patients with a favorable and unfavorable prognosis for sICH. However, significant differences were found in hypertension, diabetes, metabolic syndrome, atrial fibrillation, smoking, and stroke history. The standard deviation (SD), coefficient of variation (CV), and maximum-minimum range (Max-Min) of diastolic BP and the mean, SD, CV, and Max-Min of systolic BP significantly differed between the groups. Statistical analysis also demonstrated correlations between the 90-day mRS score and BPV and between systolic BPV and the 90-day mRS score. Conclusion High systolic or diastolic BPV within 24 hours of hemorrhagic stroke onset is associated with the 90-day neurological prognosis. The 24-hour BPV plays a critical role in the neurological outcome of hemorrhagic stroke.
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PMID:Twenty-four-hour blood pressure variability plays a detrimental role in the neurological outcome of hemorrhagic stroke. 2986 17