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Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches
submitted by biishiqaaeo 37 minutes ago - Topic: Biology
Here, we report an unconventional Chinese pedigree consisting of three branches all segregating prelingual hearing loss (HL) with unclear inheritance pattern. After identifying the cause of one branch as maternally inherited aminoglycoside-induced HL, targeted next generation sequencing (NGS) was applied to identify the genetic causes for the other two branches. One affected subject from each b...



Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy
submitted by biishiqaaeo 37 minutes ago - Topic: Biology
Glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect in any one of the four enzymes aminomethyltransferase (AMT), glycine decarboxylase (GLDC), glycine cleavage system protein-H (GCSH) and dehydrolipoamide dehydrogenase in the glycine cleavage system. This defect leads to glycine accumulat...

Living-donor lobar lung transplantation provides similar survival to cadaveric lung transplantation even for very ill patients
submitted by vectar 37 minutes ago - Topic: Health
Living-donor lobar lung transplantation (LDLLT) has been performed as a life-saving procedure for critically ill patients who are unlikely to survive the long wait for cadaveric lungs. The purpose of this study was to compare the preoperative condition and outcome of LDLLT patients with those of conventional cadaveric lung transplantation (CLT) patients. A new lung transplant programme was esta...

Hybrid balloon valvuloplasty through the ascending aorta via median sternotomy in infants with severe congenital valvular aortic stenosis: feasibility of a new method
submitted by vectar 37 minutes ago - Topic: Health
To evaluate a novel hybrid balloon valvuloplasty procedure for severe congenital valvular aortic stenosis in low-weight infants, performed through the ascending aorta via median sternotomy. Eighteen infants (...

Neutrophil-to-lymphocyte ratio predicts mortality in patients listed for liver transplantation
submitted by senhtronlom 39 minutes ago - Topic: Health
SIn the absence of overt infection, the systemic inflammatory response is increasingly recognised as a pathogenetic factor in the circulatory dysfunction of advanced cirrhosis. Our aim was to determine whether the neutrophil-to-lymphocyte ratio, a marker of systemic inflammation, is predictive of mortality in patients with end stage cirrhosis listed for liver transplantation. A single centre st...



Noninvasive Ménage À Trois For The Prediction Of High-Risk Varices: Stepwise Algorithm Using Lok Score, Liver And Spleen Stiffness
submitted by senhtronlom 39 minutes ago - Topic: Health
SLiver stiffness (LS), spleen stiffness (SS) and serum markers have been proposed to noninvasively assess portal hypertension or esophageal varices (EV) in cirrhotic patients. We aimed to evaluate the performance of a stepwise algorithm that combines Lok-score with LS and SS for diagnosing high-risk EV (HREV) and to compare it with other already-validated noninvasive methods. We performed a cro...

Pharmaceutical Portfolio Management: Global Disease Burden and Corporate Performance Metrics
submitted by ogradivca 39 minutes ago - Topic: Health
Biopharmaceutical companies face multiple external pressures. Shareholders demand a profitable company while governments, nongovernmental third parties, and the public at large expect a commitment to improving health in developed and, in particular, emerging economies. Current industry commercial models are inadequate for assessing opportunities in emerging economies where disease and market da...


Analyzing Overall Survival in Randomized Controlled Trials with Crossover and Implications for Economic Evaluation
submitted by ogradivca 39 minutes ago - Topic: Health
Offering patients in oncology trials the opportunity to cross over to active treatment at disease progression is a common strategy to address ethical issues associated with placebo controls but may lead to statistical challenges in the analysis of overall survival and cost-effectiveness because crossover leads to information loss and dilution of comparative clinical efficacy. We provide an over...

A Patient-Level Calibration Framework for Evaluating Surveillance Strategies: A Case Study of Mammographic Follow-Up After Early Breast Cancer
submitted by ogradivca 39 minutes ago - Topic: Health
Currently all women who have completed their primary treatment for early breast cancer are invited to receive routine annual mammography. There is no randomized controlled trial evidence to support this schedule, and model-based analysis is required. This paper describes a novel data collection and model calibration process to analyze the cost-effectiveness of alternative follow-up schedules fo...


Transitions between Care Settings in Dementia: Are They Relevant in Economic Terms?
submitted by ogradivca 39 minutes ago - Topic: Health
This study was performed to assess the economic effect of interventions affecting transitions between dementia care settings in Germany. A Markov-model that models the course of dementia with respect to typical care setting transitions was derived. Model data and parameters were retrieved by literature reviews. A deterministic and probabilistic sensitivity analysis was conducted to account for ...

Arrêt de la commercialisation des fils d’iridium 192 en France : proposition du groupe de curiethérapie de la Société française de radiothérapie oncologique
submitted by bobok 40 minutes ago - Topic: Health
L’arrêt de la commercialisation des fils d’iridium 192 est intervenu au début de l’année 2014 en France. Cela a obligé les services de curiethérapie à reporter toutes leurs indications en utilisant des techniques avec projecteurs de source de débit pulsé ou de haut débit de dose. La plupart avaient déjà effectué cette migration pour une partie de leurs indications, selon les h...


Indications non oncologiques de la radiothérapie : quelles indications en 2014 ?
submitted by bobok 40 minutes ago - Topic: Health
Cette revue actualise les indications non oncologiques de la radiothérapie, à l’exclusion des maladies traitées par radiochirurgie. Par rapport à la revue de 2005, les indications n’ont guère connu de grands changements : celles reconnues et validées restent la prévention des calfications osseuses hétéotopiques et des cheloïdes. En revanche, la prévention des resténoses coronar...

Nouvelles techniques et bénéfices attendus pour la radiothérapie du cancer du poumon
submitted by bobok 40 minutes ago - Topic: Health
La radiothérapie est utilisée dans les cancers du poumon inopérables, associée ou non à de la chimiothérapie. La radiothérapie classique donne des résultats décevants. De nouvelles techniques permettent une meilleure adaptation au volume tumoral et limitent l’irradiation des tissus sains avec, à terme, la possibilité d’augmenter les doses dans la tumeur et potentiellement d’am...

Guide des procédures de radiothérapie externe et de curiethérapie : présentation de la 2e édition
submitted by bobok 40 minutes ago - Topic: Health
La première édition du guide des procédures de radiothérapie externe, parue en 2007, avait comme objectifs de produire des recommandations visant à optimiser, harmoniser et homogénéiser les pratiques. Cette seconde édition, incluant la curiethérapie, garde les mêmes objectifs en tenant compte des développements technologiques actuels (radiothérapie conformationnelle avec modulation ...

Évaluation radiologique de la réponse tumorale après radiothérapie pulmonaire en conditions stéréotaxiques
submitted by bobok 40 minutes ago - Topic: Health
La radiothérapie pulmonaire en conditions stéréotaxiques est le traitement de choix à proposer aux patients non opérables atteints d’un carcinome bronchique non à petites cellules de stade T1-T2, N0 M0 ou de métastase(s) pulmonaire(s) à croissance lente et à tumeur primitive contrôlée. Elle permet un excellent taux de contrôle local, de plus de 80 % à 2 ans. Or, bien que le ta...