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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFRecovery time and predictors of severe acute malnutrition in children aged 6-59 months via an outpatient therapeutic program in Borena zone: A prospective cohort study.
PLoS One
January 2025
Department of Reproductive Health, College of Medical and Health Sciences, Dilla University, Dilla, Ethiopia.
Background: Severe acute malnutrition (SAM) is a severe condition causing bilateral pitting edema or signs of wasting in children, with a high mortality risk. An outpatient therapeutic program is recommended for managing SAM children without complications, but there is limited information on recovery time and its determinants.
Objective: This study aims to assess the time to recovery and its predictors among children aged 6-59 months with SAM admitted to the Outpatient therapeutic program in the Borena zone, Oromia region, Southern Ethiopia in 2023.
Trends in childhood cancer: Incidence and survival analysis over 45 years of SEER data.
PLoS One
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Departments of Global Pediatric Medicine and Oncology, St. Jude Children's Research Hospital, Memphis, TN, United States of America.
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View Article and Find Full Text PDFFactors affecting behaviors during complementary feeding in infants and children aged 6-24 months.
PLoS One
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Vitamince Nutrition Counseling, Maltepe/Istanbul, Turkey.
The process that begins around the 6th month of life and continues until the 24th month is called the complementary feeding period. During this period, infants and children start receiving foods that complement breast milk or formula for the first time. The psychosocial factors the infants and children encounter during this period may affect their growth and health in later life.
View Article and Find Full Text PDFSex differences in psychiatric comorbidities of attention-deficit/hyperactivity disorder among children, adolescents, and adults: A nationwide population-based cohort study.
PLoS One
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Department of Psychiatry, Chi Mei Medical Center, Tainan, Taiwan.
This cross-sectional, nationwide, population-based study aimed to elucidate sex differences in psychiatric comorbidities of Attention-deficit/hyperactivity disorder (ADHD) across children, adolescents, and adults. We analyzed data from Taiwan's comprehensive healthcare database, including 112,225 individuals diagnosed with ADHD, categorized by age (0-12, 13-18, ≥18 years) and sex. Psychiatric comorbidities were assessed using ICD-9-CM codes, focusing on age and sex-specific prevalence.
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