Search results for "HT"
showing 10 items of 20594 documents
When do myopia genes have their effect? Comparison of genetic risks between children and adults
2016
Item does not contain fulltext Previous studies have identified many genetic loci for refractive error and myopia. We aimed to investigate the effect of these loci on ocular biometry as a function of age in children, adolescents, and adults. The study population consisted of three age groups identified from the international CREAM consortium: 5,490 individuals aged 25 years. All participants had undergone standard ophthalmic examination including measurements of axial length (AL) and corneal radius (CR). We examined the lead SNP at all 39 currently known genetic loci for refractive error identified from genome-wide association studies (GWAS), as well as a combined genetic risk score (GRS). …
Analysis of cold activation of the contact system in hereditary angioedema with normal C1 inhibitor.
2021
Hereditary angioedema (HAE) attacks are caused by excessive activation of the contact system. Understanding how the contact system is activated in HAE, especially in patients with normal C1 inhibitor (HAEnCI), is essential to effectively treat this disease. Contact system activation involves the cleavage of several proteins including Factor XII (FXII), high molecular weight kininogen (HK), prekallikrein, sgp120 (ITIH4) and C1 inhibitor (C1-INH) before the subsequent generation of bradykinin that mediates HAE. In this study, we evaluated the fragmentation and enzymatic activity of contact system proteins in HAEnCI plasma samples before and after contact system activation induced by incubatio…
Clinical implications of serum neurofilament in newly diagnosed MS patients: a longitudinal multicentre cohort study
2020
Abstract Background We aim to evaluate serum neurofilament light chain (sNfL), indicating neuroaxonal damage, as a biomarker at diagnosis in a large cohort of early multiple sclerosis (MS) patients. Methods In a multicentre prospective longitudinal observational cohort, patients with newly diagnosed relapsing-remitting MS (RRMS) or clinically isolated syndrome (CIS) were recruited between August 2010 and November 2015 in 22 centers. Clinical parameters, MRI, and sNfL levels (measured by single molecule array) were assessed at baseline and up to four-year follow-up. Findings Of 814 patients, 54.7% (445) were diagnosed with RRMS and 45.3% (369) with CIS when applying 2010 McDonald criteria (R…
Body Mass Index and Associated Clinical Variables in Patients with Non-Celiac Wheat Sensitivity.
2019
Background: Non-Celiac Wheat Sensitivity (NCWS) is still a largely undefined condition, due to the lack of a diagnostic marker. Few data are available about the nutritional characteristics of NCWS patients at diagnosis. Aims: To evaluate the proportion of NCWS patients who were underweight, normal weight, overweight, or obese at diagnosis, and to search for possible correlations between their Body Mass Index (BMI) and other NCWS-related disease characteristics. Patients and Methods: The clinical charts of 145 NCWS patients (125 F, 20 M, mean age 37.1 ±
The utility of measuring tear film break-up time for prescribing contact lenses.
2017
Abstract Purpose To evaluate the clinical value of non-invasive keratograph tear film breakup time (NIKBUT) in the assessment of pre-corneal and pre-lens tear film quality for prescribing contact lenses (CLs). Methods Forty-six subjects aged 25.5 ± 4.3 (mean ± standard deviation) years were recruited. Visual acuity (VA), anterior eye health checks and NIKBUT were evaluated. On the following day, subjects were fitted with a daily Silicon Hydrogel (SiHy) CL in one eye and a Hydrogel (Hy) CL in the other. After four hours one material for both eyes was chosen based on a qualitative analysis which included VA, CL fitting and comfort. Information about the first and the mean NIKBUT was then cont…
Possible association between obesity and periodontitis in patients with Down syndrome
2017
Background The present study was carried out to evaluate the possible association between obesity and periodontitis in patients with DS, and to explore which measure of obesity is most closely correlated to periodontitis. Material and Methods A prospective observational study was made to determine whether obesity is related to periodontal disease in patients with DS. The anthropometric variables were body height and weight, which were used to calculate BMI and stratify the patients into three categories: < 25(normal weight), 25-29.9 (overweight) and ≥ 30.0 kg/m2 (obese). Waist circumference and hip circumference in turn was recorded as the greatest circumference at the level of the buttocks…
Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy
2016
BACKGROUND: We conducted an epigenome-wide association study (EWAS) of DNA methylation in placenta in relation to maternal tobacco smoking during pregnancy and examined whether smoking-induced changes lead to low birthweight. METHODS: DNA methylation in placenta was measured using the Illumina HumanMethylation450 BeadChip in 179 participants from the INfancia y Medio Ambiente (INMA) birth cohort. Methylation levels across 431 311 CpGs were tested for differential methylation between smokers and non-smokers in pregnancy. We took forward three top-ranking loci for further validation and replication by bisulfite pyrosequencing using data of 248 additional participants of the INMA cohort. We ex…
Gene-environment interactions between education and body mass: Evidence from the UK and Finland
2017
More education is associated with a lower body mass index (BMI) and likelihood of being overweight. However, since a large proportion of the variation in body mass is due to genetic makeup, it has been hypothesized that education may moderate the genetic risk. We estimate main associations between (i) education, (ii) genetic risk, and (iii) interactions between education and genetic risk on BMI and the probability of being overweight in the UK and Finland. The estimates show that education is negatively associated with BMI and overweightness, and genetic risk is positively associated. However, the interactions between education and genetic risk are small and statistically insignificant. pee…
Roux-en-Y Gastric Bypass as an Effective Bariatric Revisional Surgery after Restrictive Procedures
2020
<b><i>Introduction:</i></b> Revisional surgery must be considered when insufficient weight loss is attained or weight is subsequently regained. This study aimed to investigate the value of Roux-en-Y gastric bypass (RYGB) as a revisional procedure after restrictive surgery. <b><i>Materials and Methods:</i></b> An observational, retrospective study including patients initially operated on for morbid obesity with restrictive techniques (vertical-banded gastroplasty [VBG], adjustable gastric band [AGB], and sleeve gastrectomy) and reoperated with RYGB in our centre between December 1994 and January 2019. Demographic and anthropometric data, associ…
Breastfeeding Practices Influence the Breast Milk Microbiota Depending on Pre-Gestational Maternal BMI and Weight Gain over Pregnancy
2021
Breastfeeding is critical for adequate neonatal microbial and immune system development affecting neonate health outcomes in the short and long term. There is a great interest in ascertaining which are the maternal factors contributing to the milk microbiota and the potential relevance for the developing infant. Thus, our study aimed to characterize the effect of mixed and exclusive breastfeeding practices on the milk microbiota and to determine the impact of pre-pregnancy body mass index (BMI) and weight gain over pregnancy on its composition. Breast milk samples from 136 healthy women were collected within the first month post-partum and milk microbiota profiling was analyzed by 16S rRNA …