Search results for "WTH"

Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

2015

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not unive…

NT-3 protein levels are enhanced in the hippocampus of PRG1-deficient mice but remain unchanged in PRG1/LPA2 double mutants

2015

The plasticity-related gene 1 (PRG1) modulates bioactive lipids at the postsynaptic density and is a novel player in neuronal plasticity and regulation of glutamatergic transmission at principal neurons. PRG1, a neuronal molecule, is highly expressed during development and regeneration processes at the postsynaptic density, modulates synaptic lysophosphatidic acid (LPA) levels and is related to epilepsy and brain injury. In the present study, we analyzed the interaction between the synaptic molecules PRG1 and LPA2R with other plasticity-related molecules the neurotrophins. The protein levels of NGF, BDNF and NT-3 were measured using ELISA in hippocampal tissue of homozygous (PRG(-/-)) and h…

Influence of platelet-derived growth factor on osseous remodeling properties of a variable-thread tapered dental implant in vivo

2016

Objectives To evaluate the effect of platelet-derived growth factor (rhPDGF-BB) on the promotion of osteogenesis around variable-thread tapered implants in an animal model. Material and methods Twenty-four variable-thread tapered implants were inserted in the tibia of 12 rabbits. Twelve sites received additional rhPDGF-BB released from a presoaked xenogenic bone block that was fixed supracrestally. Primary outcomes were bone-to-implant contact (BIC; in % ± SD) and percentage of medullary bone fill around the implants (PMF; in % ± SD) after 3 weeks (PDGF n = 6, no PDGF n = 6) and 6 weeks (PDGF n = 6, no PDGF n = 6). Results Considerable crestal and medullary bone remodeling could be found ar…

Decreased Fibrogenesis After Treatment with Pirfenidone in a Newly Developed Mouse Model of Intestinal Fibrosis

2016

BACKGROUND Fibrosis as a common problem in patients with Crohn's disease is a result of an imbalance toward excessive tissue repair. At present, there is no specific treatment option. Pirfenidone is approved for the treatment of idiopathic pulmonary fibrosis with both antifibrotic and anti-inflammatory effects. We subsequently investigated the impact of pirfenidone treatment on development of fibrosis in a new mouse model of intestinal fibrosis. METHODS Small bowel resections from donor mice were transplanted subcutaneously into the neck of recipients. Animals received either pirfenidone (100 mg/kg, three times daily, orally) or vehicle. RESULTS After administration of pirfenidone, a signif…

Update on the role of molecular factors and fibroblasts in the pathogenesis of Dupuytren’s disease

2016

The mechanism by which the fibroblast is able to trigger palmar fibromatosis is still not yet fully understood. It would appear certain that the “abnormal” fibroblasts continuously synthesise profibrotic cytokines which are able to determine the activation to myofibroblasts, to stimulate them to the further proliferation and synthesis of other cytokines, to modify the cells’ differentiation and ultrastructural characteristics, as well as the production of matrix and other proteins. Several fibroblast growth factors have been suggested to be responsible of an abnormal cell activation with an aberrantly elevated collagen synthesis and extracellular deposition in Dupuytren’s disease, as TGF-Be…

Expression of endocan and vascular endothelial growth factor in recurrent minor aphthous ulcers

2019

Background Recurrent aphthous ulcers (RAU) are common painful inflammatory lesions of the mucous lining of the mouth. Endocan, previously identified as endothelial cell specific molecule-1, is implicated as a vital player in the regulation of several inflammatory processes. A number of inflammatory cytokines and pro-angiogenic growth factors including VEGF upregulate endothelial cells synthesis and expression of endocan. Material and methods Clinical scores of pain and ulcer size as well as level of endocan and VEGF were determined in swaps from aphthous ulcer and contra lateral normal mucosa in 30 patients (nine males and twenty one females) with age ranging from 18 to 45 years and mean ag…

Prevalence of Age-Related Macular Degeneration in Europe

2017

Manuscript no. 2016-1147 Supplemental material is available at www.aaojournal.org/; International audience; [u]Purpose:[/u] Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in Europe from 1990 to 2013 using the European Eye Epidemiology (E3) consortium, and made projections for the future. [u]Design:[/u] Meta-analysis of prevalence data. [u]Participants:[/u] A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohor…

The metabolic outcomes of growth hormone treatment in children are gender specific

2018

Objective To evaluate the impact of gender on the clinical and metabolic parameters in prepubertal growth hormone deficiency (GHD) children at diagnosis and during GH treatment (GHT). Design The data of 105 prepubertal children (61 males, 44 females, mean age 6.8 ± 0.7 years) affected by idiopathic GHD were retrospectively evaluated. Methods Body height, BMI, waist circumference (WC), IGF-I, HbA1c, lipid profile, fasting and after-OGTT glucose and insulin levels, insulin sensitivity and secretion indices were evaluated at baseline and after 24 months of GHT. Results At baseline, no significant difference was found in all clinical, hormonal and metabolic parameters between males and females…

2019

PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor signaling. As mTOR mediates the growth-promoting actions of PI3K, we hypothesized that the mTOR inhibitor sirolimus would slow pathological overgrowth. Thirty-nine participants with PROS and progressive overgrowth were enrolled into open-label studies across three centers, and results were pooled. For the primary outcome, tissue volumes at affected and unaffected sites were measured by dual energy X-ray ab…

Imbalance Between Oxidative Stress and Growth Factors in Human High Myopia.

2020

Este artículo se encuentra disponible en la siguiente URL: https://www.frontiersin.org/articles/10.3389/fphys.2020.00463/full Myopia is one of the commonest eye pathologies that could affect 2.56 billion people by 2020. Today high myopia is a leading cause of blindness worldwide due to associated ocular illness. Nevertheless, the cellular bases for these diseases to develop are unclear in many areas. We conducted a prospective study of oxidative stress and growth factors in human myopic and non myopic eyes in an attempt to increase our understanding of the underlying physiopathological conditions to adequately early diagnose, prevent and treat the retina problem that derives from myopia. Aq…