Search results for "Genetics"

Steroid Patterns of Benign Breast Disease

1990

We briefly review some biochemical aspects of benign breast disease (BBD), mainly focusing on free and conjugate estrogen content of breast cyst fluid (BCF), also in relation to cyst type. Evidence is reported that high K(+)-type I-cysts clearly associate with low Cl- levels and accumulate significantly higher quantities of dehydroepiandrosterone sulfate (DHAS) and estrone-3-sulfate (E1S). In spite of the limited number of cases, both increasing DHAS and E1S levels correlate with the increment of K+ to Na+ ratio. A positive correlation was also found between DHAS and E1S. Using electrochemical detection (ECD) on-line to high performance liquid chromatography (HPLC) in the reverse phase mode…

Association of female aging with decreased parthenogenetic activation, raised MPF, and MAPKs activities and reduced levels of glutathione S-transfera…

2004

This study aims to determine in the mouse whether oocytes from reproductively old females exhibit a different susceptibility to be parthenogenetically activated when compared to oocytes from young females. At the age of 10–12 (young-female group) or 60–62 (old-female group) weeks, hybrid female mice were superovulated using pregnant mare's serum gonadotropin (PMSG) followed by human chorionic gonadotropin (hCG) 48 hr later. After removing the cumulus cells, oocytes were exposed to any of two different activating protocols: (a) 6-min exposure to 8% ethanol; and (b) treatment with 200 μM thimerosal for 15 min followed by 8 mM dithiothreitol (DTT) for 30 min. Oocytes from old female mice displ…

Ambulatory assessment as a means of longitudinal phenotypes characterization in psychiatric disorders

2014

Abstract Ambulatory Assessment (AA) comprises the use of in-field methods to assess individuals’ behavior, physiology, and the experience as they unfold in naturalistic settings. We propose that AA is favorable for the investigation of gene–environment interactions and for the search for endophenotypes, being able to assess the experienced environment and to track basic regulatory processes, such as stress reactivity, affective instability, and reward experience, which are potential common factors that underlie psychiatric disorders. In this article, we (a) first describe briefly the rationale of AA and summarize the key advantages of the approach, (b) highlight within-subject regulatory pr…

Home‐delivered ultrasound monitoring for home treatment of haemarthrosis in haemophilia A

2015

Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are l…

2017

Abnormalities of the umbilico-portal venous system in Down syndrome: A report of two new patients

2003

Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt…

The impact of chocolate on cardiovascular health

2011

Cardiovascular disease is the leading determinant of mortality and morbidity in women. Functional foods are attracting interest as potential regulators of the susceptibility to disease. Supported by epidemiological evidence, chocolate has emerged as a possible modulator of cardiovascular risk. Chocolate, or cocoa as the natural source, contains flavanols, a subclass of flavonoids. The latter years have witnessed an increasing number of experimental and clinical studies that suggest a protective effect of chocolate against atherogenesis. Oxidative stress, inflammation, and endothelial function define three biological mechanisms that have shown sensitivity to chocolate. Moreover, the consumpt…

Studying hypertension in ocular fundus images using Hausdorff dispersion ordering.

2010

Retinal arterial and vein diameters are altered in individuals at risk of cardiovascular events mainly due to high blood pressure. The measurement of retinal vessel diameters has been proved to reflect individuals' vascular health. Dispersion of such measures which are obtained by means of ocular fundus images is a major factor not usually considered in clinical research. In this paper, a method to evaluate if different levels of clinically relevant covariables induce greater dispersion in retinal arterial and vein diameters is proposed. A multivariate dispersion ordering, the Hausdorff dispersion order, is used to compare the level of dispersion in such diameters for different groups of pa…

Utilizing nutritional genomics to tailor diets for the prevention of cardiovascular disease: a guide for upcoming studies and implementations.

2017

Introduction: Personalized diets based on an individual’s genome to optimize the success of dietary intervention and reduce genetic cardiovascular disease (CVD) risk, is one of the challenges most frequently discussed in the scientific community. Areas covered: The authors gathered literature-based evidence on nutritional genomics and CVD phenotypes, our own results and research experience to provide a critical overview of the current situation of using nutritional genomics to tailor diets for CVD prevention and to propose guidelines for future studies and implementations. Expert commentary: Hundreds of studies on gene-diet interactions determining CVD intermediate (plasma lipids, hypertens…

New loci associated with kidney function and chronic kidney disease

2010

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea 60 ml/min/1.73 m 2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P 5 × 10 8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or…