Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Obesity has emerged as one of the most serious public health concerns in the 21st century. Obese children tend to become obese adults. The dramatic rise in pediatric obesity closely parallels the rapid increase in the prevalence of adult obesity. As overweight children become adults they face the multitude of health problems associated with obesity at younger ages. The morbidity and mortality associated with obesity continue to increase. Obesity is one of the leading causes of preventable death. Complications of obesity include cardiovascular risks, hypertension, dyslipidemia, endothelial dysfunction, type 2 diabetes mellitus and impaired glucose tolerance, acanthosis nigricans, hepatic steatosis, premature puberty, hypogonadism and polycystic ovary syndrome, obstructive sleep disorder, orthopedic complications, cholelithiasis and pseudotumor cerebri. Genetic and molecular and environmental factors play an important role in the assessment and management of obesity.
 ...
PMID:Obesity: genetic, molecular, and environmental aspects. 1800 Sep 69

This cross sectional study evaluated serum (SMg) and intramononuclear (MMg) magnesium in patients with metabolic syndrome without diabetes and correlated them with cardiovascular risk factors. 72 patients and 57 controls (blood donors) were studied. Hypomagnesemia (SMg<1.7 mg/dL) was seen in 23.2% and intracellular depletion in 36.1% of the patients. SMg and MMg means were significantly lower in patients than in controls: 1.80+/-0.18 mg/dL vs. 2.43+/-0.43 mg/dL and 0.98+/-0.55 microg/mg vs. 1.67+/-0.64 microg/mg of protein (P<0.001). Inverse correlation was observed between, SMg and MMg with BMI; SMg with systolic blood pressure and waist circumference in women. Patients with acanthosis nigricans had lower SMg (1.75+/-0.18 mg/dL vs. 1.85+/- 0.18 mg/dL, P<0.05). Non-white people had lower SMg (1.78+/-0.16 mg/dL vs. 1.92+/-0.24 mg/dL, P=0.007) and MMg (0.95+/-0.59 microg/mg vs. 1.13+/-0.42 microg/mg, P=0.03). Patients with IR showed lower MgM means (0.84+/-0.33 microg/mg vs. 1.14+/-0.69 microg/mg, P<0.05). The same occurred in patients with low HDL-c levels (0.92+/-0.46 microg/mg vs. 1.20+/-0.70 microg/mg, P=0.03), and those with moderate and severe hepatic steatosis (0.77+/-0.29 microg/mg vs. 1.21+/-0.80 microg/mg, P<0.05). In conclusion, magnesium depletion in serum and mononuclear cells is common in obese people with metabolic syndrome, and it is more evident in non-white people with insulin resistance. This depletion may contribute to a post-receptor insulin resistance.
 ...
PMID:Serum and intracellular magnesium deficiency in patients with metabolic syndrome--evidences for its relation to insulin resistance. 1912 69

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat since birth with predisposition to insulin resistance, diabetes, hypertriglyceridemia, and hepatic steatosis. Three CGL loci, AGPAT2, BSCL2, and CAV1, have been identified previously. Recently, mutations in polymerase I and transcript release factor (PTRF) were reported in five Japanese patients presenting with myopathy and CGL (CGL4). We report novel PTRF mutations and detailed phenotypes of two male and three female patients with CGL4 belonging to two pedigrees of Mexican origin (CGL7100 and CGL178) and one pedigree of Turkish origin (CGL180). All patients had near total loss of body fat and congenital myopathy manifesting as weakness, percussion-induced muscle mounding, and high serum creatine kinase levels. Four of them had hypertriglyceridemia. Three of them had atlantoaxial instability. Two patients belonging to CGL178 pedigree required surgery for pyloric stenosis in the first month of life. None of them had prolonged QT interval on electrocardiography but both siblings belonging to CGL7100 had exercise-induced ventricular arrhythmias. Three of them had mild acanthosis nigricans but had normal glucose tolerance. Two of them had hepatic steatosis. All patients had novel null mutations in PTRF gene. In conclusion, mutations in PTRF result in a novel phenotype that includes generalized lipodystrophy with mild metabolic derangements, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis. It is unclear how mutations in PTRF, which plays an essential role in formation of caveolae, affect a wide variety of tissues resulting in a variable phenotype.
 ...
PMID:Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. 2068 3

Generalized congenital lipodystrophy or Berardinelli-Seip Syndrome is a rare autosomal recessive condition characterized by the absence of adipose tissue and eventually a defect in leptin synthesis. Affected subjects tend to show a classical phenotype with acromegaloid appearance, generalized atrophy of subcutaneous adipose tissue with muscular hypertrophy, acanthosis nigricans, hepatomegaly and prominent abdomen. From metabolic point of view and as a consequence of leptin absence, hypertriglyceridemia leading to hepatic steatosis and insulin resistance may appear. Two cases of unrelated subjects affected of generalized congenital lipodystrophy are presented. Both developed difficult-to-manage diabetes mellitus and were treated with high doses of insulin. In both cases early microvascular complications were present. A mutation for LMNA gene was found in one of the subjects.
 ...
PMID:[Difficult to manage diabetes mellitus associated with generalized congenital lipodystrophy. Report of two cases]. 2142 30

OBJECTIVES. To investigate the demographic characteristics and insulin resistance in local overweight/obese Chinese children with and without acanthosis nigricans, and the associations of acanthosis nigricans with insulin resistance and other cardiometabolic co-morbidities. DESIGN. Case series with cross-sectional analyses. SETTING. A regional hospital in Hong Kong. PATIENTS. Chinese children assessed between January 2006 and December 2010 at Tseung Kwan O Hospital for being overweight or obese. MAIN OUTCOME MEASURES. The demographics, anthropometric data, acanthosis nigricans status, and biochemical results were analysed. RESULTS. A total of 543 overweight/obese children were studied with 64% being boys and 29% had insulin resistance. Adolescents aged 12 to 18 years, compared with children aged 5 to 11 years, were more likely to have acanthosis nigricans (63% vs 47%; P<0.001) and insulin resistance (37% vs 25%; P=0.005). Compared with overweight children, those who were obese were more likely to have the two conditions: acanthosis nigricans (59% vs 44%; P=0.005) and insulin resistance (35% vs 19%; P=0.001). Compared with those without acanthosis nigricans, those with the condition had significantly higher mean values for systolic blood pressures (P<0.001), 2-hour post-oral glucose tolerance test glucose level (P=0.021), fasting insulin level (P<0.001), homeostasis model of assessment-insulin resistance (P<0.001), fasting triglyceride level (P<0.001), and alanine aminotransferase level (P=0.002), but a lower high-density lipoprotein cholesterol level (P<0.001). Those with acanthosis nigricans were also more likely to have insulin resistance (P<0.001), hypertension (P=0.021), fatty liver (P=0.001), and abnormal glucose homeostasis (P=0.003). CONCLUSION. Obese Chinese children and adolescents with acanthosis nigricans had a higher chance of having insulin resistance and cardiometabolic co-morbidities. Acanthosis nigricans is an important clinical feature warranting early attention and evaluation to facilitate timely interventions and monitoring.
...
PMID:Acanthosis nigricans in obese Chinese children. 2476 31

A 16-year-old Hispanic girl with an elevated body mass index in an otherwise normal state of health presented for her well-child examination. She had signs of metabolic syndrome and insulin resistance including increased waist circumference and acanthosis nigricans. Laboratory results revealed elevated transaminases with otherwise normal hepatic function. Based on the physical examination and laboratory results, she was diagnosed with nonalcoholic fatty liver disease (NAFLD). After further evaluation, she eventually underwent a liver biopsy. The biopsy revealed nonalcoholic steatohepatitis (NASH) with stage 2 fibrosis. This article reviews the definition of NAFLD and NASH, an increasingly prevalent cause of pediatric chronic liver disease associated with obesity and metabolic syndrome. The article also outlines the epidemiology, risk factors, and natural history of NAFLD, which may help identify and prevent high-risk pediatric patients from progressing to irreversible liver disease. Understanding the diagnostic and treatment options offers the best chance at preventing and reversing the early stages of this disease.
 ...
PMID:Nonalcoholic Fatty Liver Disease in Pediatrics. 2687 84

Pseudoacromegaly, or acromegaloidism, is characterised by a clinical appearance mimicking acromegaly in the absence of documented hypersomatotropism or past exposure to excess growth hormone. It can develop secondary to a number of congenital and acquired conditions of which severe insulin resistance is an important example. Lipodystrophy syndromes are a group of rare disorders of which autosomal recessive congenital generalised lipodystrophy is the most common type. Patients with this disorder are predisposed to insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridaemia, fatty liver, polycystic ovaries and acanthosis nigricans. Elevated circulating insulin levels in these patients rarely can give rise to soft tissue and bony overgrowth, with resultant acromegaloidism. We report an adolescent girl presenting with unusual prominence of her hands and feet; a thorough evaluation ultimately revealed a diagnosis of congenital generalised lipodystrophy.
...
PMID:Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome). 2706 25

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by the loss of body fat. The global prevalence of CGL is one in 10 million, and there are four subtypes. The case is presented of a 18-year-old woman from rural area of the north coast of Peru (Piura) with limited access to health services. She was diagnosed with phenotypic CGL at age 7 months. At age 12 years, she was diagnosed with diabetes and had altered liver function tests. She underwent a liver biopsy, which revealed advanced portal fibrosis. The patient stopped attending evaluations for 3 years; subsequently, she was referred to Dos De Mayo Hospital in Lima. Physical examination revealed typical triangular facies, acanthosis nigricans, and hirsutism; little subcutaneous tissue; proximal muscle weakness with stiffness in joints; and clitorimegaly. As of this writing, the patient is waiting to initiate outpatient therapy with a leptin analog. She has physical characteristics of CGL type 2 and a natural progression of the disease that presents cirrhosis caused by nonalcoholic fatty liver disease. She lives in a region of high CGL type 2 prevalence, which, without treatment, has a poor prognosis. Liver failure is the main cause of death. There are barriers for this group of patients to access the best treatment and one purpose of this report is to attract the attention of health institutions to help us treat these patients.
 ...
PMID:Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. 2926 52

Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non-progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous BSCL2 nonsense mutation. The patient had epilepsy onset at the age of two, characterized by monthly generalized tonic-clonic seizures. By the age of three, he presented with drug-resistant ongoing myoclonic absence seizures, photosensitivity, progressive neurological degeneration, and moderate cognitive delay. Molecular analysis of the BSCL2 gene yielded a homozygous c.(1076dupC) p.(Glu360*) mutation. Application of a vagus nerve stimulator led to temporary improvement in seizure frequency, general neurological condition, and EEG background activity. Specific BSCL2 mutations may lead to a peculiar CGL2 phenotype characterized by PME and progressive neurodegeneration. Application of a vagus nerve stimulator, rarely used for PMEs, may prove beneficial, if only temporarily, for both seizure frequency and general neurological condition.
 ...
PMID:Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 3076 95

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by mutations in the AGPAT2 and CAVIN1 genes, respectively. Two patients aged 2 and 9 years with the same biallelic CAVIN1 mutation and five patients aged between 6 months and 11 years 4 months with AGPAT2 mutations have been followed up for 3-9 years. The patients were between 7 and 20 years of age at their last examination. One of the two patients with CGL4 had congenital pyloric stenosis. The other patient with CGL4 have developed recurrent duodenal perforations which have not been reported in CGL patients previously. The pathological examination of duodenal specimens revealed increased subserosal fibrous tissue and absent submucosal adipose tissue. None of the five CGL1 patients had gastrointestinal problems. Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. Hyperinsulinemia was detected in one patient with CGL4 and three patients with CGL1, these three CGL1 patients also had acanthosis nigricans. Hepatic steatosis was detected in one patient with CGL4 and two patients with CGL1 by ultrasonography. In conclusion, these findings suggest that CGL4 patients should also be carefully followed up for gastrointestinal and cardiac manifestations.
 ...
PMID:Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4. 3177 56


<< Previous 1 2 3 Next >>