Search results for "Phenotype"

Atherogenic lipoprotein phenotype and low-density lipoproteins size and subclasses in women with polycystic ovary syndrome.

2006

Abstract Context: An altered lipid profile is common in polycystic ovary syndrome (PCOS) and is usually characterized by increased triglycerides and low high-density lipoprotein (HDL)-cholesterol levels. In the general population, these alterations are often associated with the increase of small low-density lipoproteins (LDLs) in the so-called “atherogenic lipoprotein phenotype” (ALP) that determines a further increase of cardiovascular risk. In this study, we evaluated the presence of ALP in the plasma of women with PCOS. Setting: Measurements and analysis of LDL size were performed at the Clinic of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital, Zurich. PCOS patients…

Characterization of metabolic changes in the phenotypes of women with polycystic ovary syndrome in a large Mediterranean population from Sicily.

2019

Objective To better characterize the metabolic alterations in various phenotypes of polycystic ovary syndrome (PCOS) in a large homogeneous (Sicilian) Mediterranean population with a low prevalence of obesity. Design Retrospective study. Patients A total of 1215 consecutively evaluated women with PCOS divided into four Rotterdam phenotypes (A, B, C and D) and in 108 matched ovulatory, nonhyperandrogenic women. Measurements BMI, fasting glucose, total cholesterol, HDL cholesterol, triglycerides, LDL cholesterol and an oral glucose tolerance test. Results The overall prevalence of obesity was 31%, metabolic syndrome 6.6%, diabetes 2.1%, altered glucose metabolism 13.1%, and abnormal lipid pro…

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

2013

Abstract Objective To determine the spectrum of gene mutations and the genotype–phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy. Methods The resequencing of LDLR , PCSK9 genes and a selected region of APOB gene were conducted in 1018 index subjects clinically heterozygous ADH and in 52 patients clinically homozygous ADH. The analysis was also extended to 1008 family members of mutation positive subjects. Results Mutations were detected in 832 individuals: 97.4% with LDLR mutations, 2.2% with APOB mutations and 0.36% with PCSK9 mutations. Among the patients with homozygous ADH, 51 were carriers of LDLR mutations and one was an LDLR / …

A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

Pulmonary artery sarcoma with angiosarcoma phenotype mimicking pleomorphic malignant fibrous histiocytoma: a case report

2012

Abstract Primary sarcomas of the major blood vessels can be classified based on location in relationship to the wall or by histologic type. Angiosarcomas are malignant neoplasms that arise from the endothelial lining of the blood vessels; those arising in the intimal compartment of pulmonary artery are rare. We report a case of pulmonary artery angiosarcoma in a 36-year old female with pulmonary masses. The patient had no other primary malignant neoplasm, thus excluding a metastatic lesion. Gross examination revealed a thickened right pulmonary artery and a necrotic and hemorrhagic tumor, filling and occluding the vascular lumen. The mass extended distally, within the pulmonary vasculature …

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

2011

Primary hypobetalipoproteinemia (pHBL) is characterized by plasma cholesterol levels ApoB48, and FHBL harbouring as yet unknown molecular defects. Not linked FHBL kindred are not homogeneous in terms of plasma NCS levels. NCS cannot replace genetic HBL analysis.

Metabolically healthy polycystic ovary syndrome (MH-PCOS) and metabolically unhealthy polycystic ovary syndrome (MU-PCOS): a comparative analysis of …

2013

Study question Is it possible to distinguish metabolically healthy polycystic ovary syndrome (MH-PCOS) from metabolically unhealthy PCOS (MU-PCOS) by simple diagnostic tools such as body mass index (BMI), waist/hip ratio (WHR), at-risk category suggested by Androgen Excess Society (AES) and visceral adiposity index (VAI)? Summary answer VAI could be an easy and useful tool in clinical practice and in population studies for assessment of MU-PCOS. What is known already VAI is a good indicator of insulin sensitivity and cardiometabolic risk in oligo-ovulatory women with PCOS. Study design, size, duration We conducted a cross-sectional study of 232 women with PCOS in a university hospital setti…

Major gender difference in association of FTO gene variant among severely obese children with obesity and obesity related phenotypes.

2008

Recent studies have shown that SNPs in the FTO gene predispose to childhood and adult obesity. In this study, we examined the association between variants in FTO and KIAA1005, a gene that maps closely to FTO, and obesity, as well as obesity related traits among 450 well characterised severely obese children and 512 normal weight controls. FTO showed significant association with several obesity related traits while SNPs in KIAA1005 did not. When stratified by gender, the FTO variant rs9939609 showed association with obesity and BMI among girls (P = 0.006 and 0.004, respectively) but not among boys. Gender differences were also found in the associations of the FTO rs9939609 with obesity relat…

Prevalence and metabolic characteristics of adrenal androgen excess in hyperandrogenic women with different phenotypes

2007

Background: Serum DHEAS has been found to be elevated in some women with polycystic ovary syndrome (PCOS). We wished to determine whether this prevalence is different in women with androgen excess who have different phenotypes and to correlate these findings with various cardiovascular and metabolic parameters. Methods: Two hundred and thirty-eight young hyperandrogenic women categorized into various diagnostic groups were evaluated for elevations in serum DHEAS, testosterone, glucose, insulin, quantitative insulin-sensitivity check index (QUICKI), cholesterol, HDL-C, LDL-C, triglycerides and C-reactive protein (CRP). Data were stratified based on elevations in DHEAS. Results: Serum DHEAS w…

Genetic polymorphisms of serotonin transporter and receptor 1A could influence success during embryo implantation and maintenance of pregnancy

2012

Objective To explore whether serotonin-related gene polymorphisms influence clinical outcomes of IVF treatment in recipients using donated oocytes. Design Nested case-control study. Setting University-affiliated infertility clinic. Patient(s) Two hundred forty-five women undergoing IVF treatment with donated oocytes. Intervention(s) None. Main Outcome Measure(s) Genotype and haplotype analysis of the serotonin transporter-linked polymorphic region (5-HTTLPR), rs1800532, rs6295, rs6313, and rs3813929, between recipients grouped according to the results of the oocyte donation for IVF treatment. Result(s) No differences were found between genotype distribution of the tryptophan hydroxylase 1, …