Search results for "Asia"
showing 10 items of 2697 documents
Multiple endocrine neoplasia type 1 gene expression is normal in sporadic adrenocortical tumors.
2000
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with neoplasia of the anterior pituitary, the parathyroid, the endocrine pancreas and other endocrine tissues including the adrenal cortex. The tumor-suppressor gene causing this disease was identified at the gene locus 11q13. We recently reported that adrenocortical carcinomas frequently show loss of heterozygosity (LOH) of 11q13, but do not contain point mutations within the MEN1-coding region. To investigate whether reduced gene expression (for example by mutations within the MEN1 promoter) may contribute to the tumorigenesis of sporadic adrenocortical tumors, 24 adrenocortical specimen were studied by Northern …
Chromoendoscopy in Inflammatory Bowel Disease
2012
Chromoendoscopy with methylene blue or indigo carmine significantly increases the diagnostic yield of finding intraepithelial neoplasia in patients with longstanding colitis. The number needed to treat is 14 for panchromoendoscopy to identify 1 additional patient with dysplasia. Chromoendoscopy can greatly facilitate the identification of flat lesions harboring intraepithelial neoplasia. Chromoendoscopy can guide biopsies and clearly reduces the amount of biopsies that are needed per patient. Magnifying endoscopy or CLE are additional techniques, which can be used in conjunction with chromoendoscopy to further reduce the amount of biopsies and to further increase the diagnostic yield. Chrom…
Evolving endoscopic strategies for detection and treatment of neoplastic lesions in inflammatory bowel disease
2013
The paradigm for neoplasia surveillance in IBD is rapidly evolving with advancements in endoscopic imaging technology. Modern technology has demonstrated a remarkably improved capacity to detect and characterize subtle neoplastic lesions. As such, practices of obtaining interval random biopsy specimens to identify “invisible”neoplasia and of recommending total proctocolectomy for treatment of early neoplastic lesions are gradually being phased out. Further research is required to confirm the safety and effectiveness of endoscopic resection of more advanced neoplastic lesions, including DALMs and lesions bearing HG-IEN. Moving forward, studies evaluating CRC risk profiles in IBD patients wou…
Evolution of lactase persistence: an example of human niche construction
2011
Niche construction is the process by which organisms construct important components of their local environment in ways that introduce novel selection pressures. Lactase persistence is one of the clearest examples of niche construction in humans. Lactase is the enzyme responsible for the digestion of the milk sugar lactose and its production decreases after the weaning phase in most mammals, including most humans. Some humans, however, continue to produce lactase throughout adulthood, a trait known as lactase persistence. In European populations, a single mutation (−13910*T) explains the distribution of the phenotype, whereas several mutations are associated with it in Africa and the Middle …
A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes
2016
The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…
Relationship of Flow Rate with Symptoms, Quality of Life and Other Clinical Parameters in Patients with LUTS Suggestive of BPH
2001
The uroflowmetry data of a selected number of patients who took part to the QUIBUS study (366 traces selected after quality control by a central panel of reviewer) were evaluated for their relationships with age, prostate volume, and IPSS and ICS-BPH scores. Waiting time, flow time, voided volume, maximum flow rate (Q(max)) and average flow rate (Q(ave)) were the flow variables considered for analysis. Only measurements with total voided volume exceeding 100 ml were included.An increasing percentage of subjects with voided volume200 ml was observed over 65 years of age. Age did not affect neither Q(ave) nor Q(max )(p = n.s. at correlation analysis). In particular, Q(max)was15 ml/s in about …
Large-scale association analysis identifies new risk loci for coronary artery disease
2016
Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r 2 < 0.2) strongly associated with CAD at a 5% false discovery rate (FDR). Together, these variants explain approximately 10.6% of CAD heritability. Of the 46 genome-wide significant lead SNPs, 12 show a significant association with a lipid trait, and 5 show a significant association with blood pressure, but none is significantly associated with diabetes. Network analysis with 233 candidate genes …
Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
2009
<i>Background:</i> Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome. <i>Aim:</i> To characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis. <i>Patients and Methods:</i> Twenty-seven Caucasian patients with classic 21HD (4–31 years); 27 sex-, age- and BMI-matched controls. Clinical parameters, hormonal status and genotype were assessed in all patients. Lipid parameters, including relative (%) and absolute (mg/dl) small-dense low-density lipoproteins subfractions (sd-LDL) were measured in patients and controls. Oral …
Are general practitioners characteristics associated with the quality of type 2 diabetes care in general practice? Results from the Norwegian ROSA4 s…
2018
Abstract Objective: To explore the associations between general practitioners (GPs) characteristics such as gender, specialist status, country of birth and country of graduation and the quality of care for patients with type 2 diabetes (T2DM). Design: Cross-sectional survey. Setting and subjects: The 277 GPs provided care for 10082 patients with T2DM in Norway in 2014. The GPs characteristics were self-reported: 55% were male, 68% were specialists in General Practice, 82% born in Norway and 87% had graduated in Western Europe. Of patients, 81% were born in Norway and 8% in South Asia. Data regarding diabetes care were obtained from electronic medical records and manually verified. Main outc…
Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasma lipids and diabetes risk in an Asian population.
2004
We investigated the association of C1431T and Pro12Ala polymorphisms at the peroxisome proliferator-activated receptor γ (PPARγ) locus with plasma lipids and insulin resistance-related variables, according to diabetes status, in a large and representative Asian population from Singapore consisting of 2,730 Chinese, 740 Malays, and 568 Indians. Moreover, we estimated the diabetes risk and examined gene-nutrient interactions between these variants and the ratio of polyunsaturated fatty acid to saturated fat (SFA) in determining body mass index (BMI) and fasting insulin. We found differential effects of these gene variants. The Pro12Ala polymorphism was more associated with plasma lipids and f…