Results 101 to 110 of about 1,256,474 (405)
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
World Allergy Organization Journal, 2011 Background Allergic rhinitis (AR) affects up to 36% of the population in the Middle East Gulf States. The second-generation nonsedating antihistamine desloratadine has demonstrated safety and efficacy in the treatment of AR; however, few studies have ...
Tamer M.H. Adham, MD(Pediatrics), MRCPCH(London)
doaj
Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte +23 more
wiley +1 more source
3D Printing and 3D Bioprinting in Pediatrics
Bioengineering, 2017 Additive manufacturing, commonly referred to as 3D printing, is a technology that builds three-dimensional structures and components layer by layer. Bioprinting is the use of 3D printing technology to fabricate tissue constructs for regenerative medicine
S. Vijayavenkataraman, J. Fuh, W. Lu
semanticscholar +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Revista Paulista de Pediatria, 2013 OBJECTIVE: To evaluate the profile and the scientific production of researchers in Pediatrics with scholarship from the National Counsel of Technological and Scientific Development.
Maria Christina L. Oliveira +9 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Antifungal stewardship considerations for adults and pediatrics
Virulence, 2017 Antifungal stewardship refers to coordinated interventions to monitor and direct the appropriate use of antifungal agents in order to achieve the best clinical outcomes and minimize selective pressure and adverse events.
Rana F. Hamdy, T. Zaoutis, S. Seo
semanticscholar +1 more source
Arthritis Care &Research, EarlyView.Objective Pediatric rheumatologic diseases (PRDs) are characterized by high rates of anxiety and depression known to impact health‐related outcomes. We present guidance statements to assess and manage mental health concerns for youth with PRDs in pediatric rheumatology practice.
Natoshia R. Cunningham +21 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Promoting Resilience in Stress Management (PRISM) is a resilience coaching program designed for adolescents with chronic illness. We aimed to examine the perceived feasibility, acceptability, and appropriateness of PRISM among pediatric rheumatologists treating adolescents with chronic musculoskeletal pain and obtain recommendations for ...
Sabrina Gmuca +9 more
wiley +1 more source