Search results for "wt"

Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry

2013

Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of the condition. Though much progress has been made to identify the developmental basis of tooth formation, knowledge of the etiological basis of inherited tooth loss is still lacking. To date, the mutation spectra of non-syndromic form of familial and sporadic tooth agenesis in humans have revealed defects in various such genes that encode transcription factors, MSX1 and PAX9 or genes that code for a protein involved in canonical Wnt signaling …

Effect of acetyl-l-carnitine in the treatment of diabetic peripheral neuropathy : A systematic review and meta-analysis

2017

Background/aim: Deficiency of acetyl-L-carnitine (ALC) and L-carnitine (LC) appears to play a role in peripheral diabetic neuropathy, although the evidence in humans is still limited. We conducted a systematic review and meta-analysis investigating the effect of ALC on pain and electromyographic parameters in people with diabetic neuropathy. Methods: A literature search in major databases, without language restriction, was undertaken. Eligible studies were randomized controlled trials (RCTs) or pre-and post-test studies. The effect of ALC supplementation on pain perception and electromyographic parameters in patients with diabetic neuropathy was compared vs. a control group (RCTs). The effe…

Body mass reduction markedly improves muscle performance and body composition in obese females aged 61-75 years: comparison between the effects exert…

2004

OBJECTIVE: To investigate the effectiveness of a body mass reduction programme entailing diet caloric restriction and moderate physical activity with or without supplementary treatment with recombinant (r) GH or steroids to improve body composition and muscle performance in severely obese women aged 61-75 years. METHODS: Twenty women were randomly assigned to one of three groups: body mass reduction alone; body mass reduction plus rGH; body mass reduction plus nandrolone undecanoate. Body composition, isotonic muscle strength and anaerobic power output during jumping were determined before and after the 3-week period. RESULTS: Whatever the experimental group considered, body mass (P<0.01…

The ecdysone-induced DHR4 orphan nuclear receptor coordinates growth and maturation in Drosophila

2005

0092-8674 (Print) Journal Article Research Support, Non-U.S. Gov't; A critical determinant of insect body size is the time at which the larva stops feeding and initiates wandering in preparation for metamorphosis. No genes have been identified that regulate growth by contributing to this key developmental decision to terminate feeding. We show here that mutations in the DHR4 orphan nuclear receptor result in larvae that precociously leave the food to form premature prepupae, resulting in abbreviated larval development that translates directly into smaller and lighter animals. In addition, we show that DHR4 plays a central role in the genetic cascades triggered by the steroid hormone ecdyson…

Quo vadis SANEPID? A cross-country analysis of public health reforms in 10 post-Soviet states

2010

Abstract Background The public health systems of the post-Soviet states have evolved from the san-epid system, which dominated public health practice throughout the former Soviet Union. Since independence, reforms have taken different directions. This article provides a cross-country comparison of public health reform processes and contents in 10 post-Soviet states. Methods The study is descriptive and comparative, based on a literature review of the major health databases, the Health Systems in Transition (HiT) volumes and grey literature. Search terms included terms on public health, the san-epid services and organizational reforms in one or several post-Soviet states. Results Public heal…

Health indicators as indicators of the progress of civilization

2018

Rare diseases and orphan drugs: Latvian story

2014

Background Ten years have passed since Latvia became a Member State of the EU in 2004. As a result European regulations, including those related to rare diseases and orphan drugs, have been applied to Latvian legislative system. Orphan diseases have been recognized as a priority area for action in the public health system, though there are significant differences in the national healthcare services for rare diseases among the EU States. This study aims to determine situation in the field of rare diseases in Latvia and compare it with other European countries. Methods We used the national plan for rare diseases, EUCERD reports, Orphanet data, Latvian and European regulations, publicly availa…

The policy of public health genomics in Italy.

2013

Abstract Italy has a monitoring system for genetic testing, consisting in a periodic census of clinical and laboratory activities performed in the country. The experience is limited, however, concerning the translation of genomic testing for complex diseases into clinical practice. For the first time the Italian Ministry of Health has introduced a policy strategic plan on genomics and predictive medicine within the 2010–2012 National Prevention Plan. This achievement was supported by the Italian Network for Public Health Genomics (GENISAP) and will likely contribute to the integration of public health genomics into health care in the country. Our experience might be of interest not only in …

Role of antiangiogenic VEGF-A165b in angiogenesis and systolic function after reperfused myocardial infarction

2021

Abstract Introduction and objectives Angiogenesis helps to reestablish microcirculation after myocardial infarction (MI). In this study, we aimed to further understand the role of the antiangiogenic isoform vascular endothelial growth factor (VEGF)-A165b after MI and to explore its potential as a coadjuvant therapy to coronary reperfusion. Methods Two mice MI models were formed: a) permanent coronary ligation (nonreperfused MI); b) transient 45-minute coronary occlusion followed by reperfusion (reperfused MI); in both models, animals underwent echocardiography before euthanasia at day 21 after MI induction. We determined serum and myocardial VEGF-A165b levels. In both experimental MI models…

Longitudinal Study on Growth and Body Mass Index before and after Diagnosis of Childhood Craniopharyngioma

2004

Abstract We analyzed whether childhood craniopharyngioma predisposes to obesity and growth impairment. Height/length, body mass index (BMI), and hypothalamic involvement were evaluated in 90 patients at standardized ages and time points before, after, and at the time of diagnosis. Relevant decreases in height sd score (SDS) started at 10–12 months of age and persisted until diagnosis of childhood craniopharyngioma. Relevant increases in BMI SDS were detectable between 4 and 5 yr of age. Postoperative BMI SDS (yr 1–6) had a weak positive correlation with BMI SDS at the time of diagnosis. In linear regression analysis, hypothalamic tumor involvement (P < 0.001), ponderal index at birth…