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Early Removal of the Abdominal Patch is Superior to Late Removal in Children With Congenital Diaphragmatic Hernia.
J Pediatr Surg
December 2024
Department of Pediatric Surgery, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1-3, Mannheim 68167, Germany. Electronic address:
Introduction: Open repair of Congenital diaphragmatic hernia (CDH) in neonates often involves reconstruction of the abdominal wall using a patch. Data on predictors for the need of a patch and associated postoperative risks, such as infection or patch detachment, are limited. Specifically, the question regarding the ideal timepoint of patch removal remains unanswered.
View Article and Find Full Text PDFCardiopulmonary exercise response at high altitude in patients with congenital heart disease: a systematic review and meta-analysis.
Front Cardiovasc Med
December 2024
Department of Medicine DIMED, University of Padua, Padua, Italy.
Background: An increasing number of patients with congenital heart disease (CHD) engage in physical activities and may exercise at high altitudes (HA). The physiological adaptations required at HA and their implications on individuals with CHD, especially during exercise, remain underexplored. This systematic review aims to investigate cardiopulmonary exercise responses to short-term HA exposure in individuals with CHD.
View Article and Find Full Text PDFCase Report: Prenatal ultrasound presentation of congenital melanocytic nevus syndrome.
Front Pediatr
December 2024
Department of Ultrasound, Jinan Maternity and Child Care Hospital, Jinan, Shandong, China.
Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex.
View Article and Find Full Text PDFCleft palate, congenital heart disease, and developmental delay involving heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report.
Front Pediatr
December 2024
Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This case is the first reported patient with a gene mutation who primarily exhibits pronounced inattention as the main manifestation and is diagnosed with ADHD, requiring methylphenidate treatment. It is characterized by unique clinical features that set it apart from previously reported cases with mutations in the gene. Here, we report a female child with a diagnosis of ADHD and comorbidities.
View Article and Find Full Text PDFAltered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin.
Int J Mol Sci
December 2024
William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Mitochondrial dysfunction is implicated in the pathogenesis of the neurological condition autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), yet precisely how the mitochondrial metabolism is affected is unknown. Thus, to better understand changes in the mitochondrial metabolism caused by loss of the sacsin protein (encoded by the SACS gene, which is mutated in ARSACS), we performed mass spectrometry-based tracer analysis, with both glucose- and glutamine-traced carbon. Comparing the metabolite profiles between wild-type and sacsin-knockout cell lines revealed increased reliance on aerobic glycolysis in sacsin-deficient cells, as evidenced by the increase in lactate and reduction of glucose.
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