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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Int J Neonatal Screen
January 2025
Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of using dried blood spot (DBS) samples.
View Article and Find Full Text PDFOlfactory Dysfunction in Children and Adolescents-A Diagnostic Pathway.
Neuropediatrics
January 2025
Department of Pediatrics, Pediatric Neurology, Neurometabolics and Prevention, Goethe University Frankfurt, Frankfurt, Germany.
Olfactory disorders have so far played a subordinate role in pediatric care, although children can also be affected. Due to a lack of awareness, the diagnosis can often only be made after numerous visits to the doctor, although it can significantly impact the quality of life. Olfactory disorders in adults are usually acquired, while congenital causes dominate in children.
View Article and Find Full Text PDFSystems-level immunomonitoring in children with solid tumors to enable precision medicine.
Cell
January 2025
Clinical Pediatrics Unit, Department of Women's and Children's Health, Karolinska Institutet, 17165 Stockholm, Sweden; Department of Immunology and Inflammation, Imperial College London, London W12 EH7, UK; Medical Research Council, Laboratory of Medical Sciences, Imperial College Hammersmith Campus, London, UK; Pediatric Rheumatology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, 17176 Stockholm, Sweden. Electronic address:
Cancer is the leading cause of death from disease in children. Survival depends not only on surgery, cytostatic drugs, and radiation but also on systemic immune responses. Factors influencing these immune responses in children of different ages and tumor types are unknown.
View Article and Find Full Text PDFEarly developmental trajectories of the impaired hand in infants with unilateral cerebral palsy.
Dev Med Child Neurol
January 2025
Queensland Cerebral Palsy and Rehabilitation Research Centre, Child Health Research Centre, Faculty of Medicine, The University of Queensland, Brisbane, Australia.
Aim: To identify developmental trajectories of impaired hand function in infants aged 3 to 15 months with unilateral cerebral palsy (CP).
Method: Sixty-three infants (37 male; median gestational age 37 weeks [interquartile range 30-39.1 weeks]) recruited as part of a randomized trial with a confirmed diagnosis of unilateral CP were included.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
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