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Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.
Eur J Paediatr Neurol
December 2024
University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Amalia Children's Hospital, Department of Paediatrics, Radboudumc, Nijmegen, the Netherlands. Electronic address:
Childhood-onset mitochondrial disorders are rare genetic diseases that often manifest with neurological impairment due to altered mitochondrial structure or function. To date, pathogenic variants in 373 genes across the nuclear and mitochondrial genomes have been linked to mitochondrial disease, but the ensuing genetic and clinical complexity of these disorders poses considerable challenges to their diagnosis and management. Nevertheless, despite the current lack of curative treatment, recent advances in next generation sequencing and -omics technologies have laid the foundation for precision mitochondrial medicine through enhanced diagnostic accuracy and greater insight into pathomechanisms.
View Article and Find Full Text PDFRespiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.
BMJ Case Rep
January 2025
Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR).
View Article and Find Full Text PDFEndocrine Disruptors in Child Obesity and Related Disorders: Early Critical Windows of Exposure.
Curr Nutr Rep
January 2025
Department of Nutrition and Dietetics, Faculty of Health Sciences, Bursa Uludag University, Bursa, Turkey.
Endocrine disruptors (EDs) can mimic or interfere with hormones in the body, leading to non-communicable diseases, such as obesity, diabetes, and metabolic syndrome. Susceptibility to EDs increases during prenatal and postnatal life, a critical time window. This review aims to summarize the latest evidence on the relation of early life exposure to some EDs with obesity and the other metabolic disorders.
View Article and Find Full Text PDFThe Impact of Vitamin D Supplementation Duration on Early Childhood Developmental Milestones: A Retrospective Study.
Nutrients
December 2024
Unit of Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.
Background: Vitamin D plays a pivotal role in early childhood development, influencing skeletal strength, neuromuscular coordination, and neurodevelopment. This study aimed to evaluate the impact of different durations of Vitamin D supplementation on achieving developmental milestones.
Methods: A retrospective study was conducted on 209 children, divided into two cohorts based on Vitamin D supplementation duration: six months ( = 102) and twelve months ( = 107).
Planetary Health Diet for Childhood Obesity Prevention: Integrating Nutritional Health with Environmental Stewardship.
Nutrients
December 2024
Laboratory of Dietetics and Clinical Nutrition, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, 27100 Pavia, Italy.
Background: Childhood obesity is a critical public health challenge with a rising prevalence worldwide, contributing to numerous health risks and long-term societal burdens. Concurrently, climate change and environmental degradation demand sustainable approaches to dietary patterns. The Planetary Health Diet (PHD), initially designed for adults, emphasizes plant-based foods and sustainable practices.
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