Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano +15 more
wiley +1 more source
Drug interactions may be important risk factors for methotrexate neurotoxicity, particularly in pediatric leukemia patients [PDF]
, 2016 Purpose: Methotrexate administration is associated with frequent adverse neurological events during treatment for childhood acute lymphoblastic leukemia.
Baird, Susan F. +5 more
core +2 more sources
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
William Edwards Ladd, M.D. (1880-1967): the description of his bands. [PDF]
, 2013 In the early 20th century, an established surgical specialty catering to pediatric surgery did not exist, and pediatric surgical ailments were operated on by general surgeons.
Cowan, MD, Scott W. +4 more
core +1 more source
Germline Mutations in Predisposition Genes in Pediatric Cancer.
New England Journal of Medicine, 2015 BACKGROUND The prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown. Knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic ...
Jinghui Zhang +31 more
semanticscholar +1 more source
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
Abstracts of the 3rd International Congress of Contemporary Pediatric Dentistry (ICCPD 2023)
Contemporary Pediatric Dentistry, 2023 Contemporary Pediatric Dentistry
doaj +1 more source
Factors Affecting Adherence to Pediatrics Antiretroviral Therapy in Mekelle Hospital, Tigray Ethiopia [PDF]
, 2015 The most important factor in the success of HIV treatment is adherence to antiretroviral therapy (ART).The challenge to adherence to ART is particularly serious in Sub-Saharan Africa as the high rates of HIV/AIDS lead to greater numbers of affected ...
G/Amlak, T. (Tesfay) +2 more
core
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