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Current practice and barriers for transition of care (TOC) in pediatric surgery: perspectives of adult surgeons from different subspecialties.
Pediatr Surg Int
January 2025
Department of Surgery, Sultanah Aminah Hospital, Jalan Persiaran Abu Bakar Sultan, 80100, Johor Bahru, Johor, Malaysia.
Introduction: The advancements in neonatal resuscitation and surgical care have enabled children with congenital abnormalities to receive corrective surgeries and achieve lifespans well into adulthood. These patients may require long-term follow-up as they continue to have risks of developing sequelae from their original diseases or surgical interventions.
Purpose: This study aimed to investigate the current practice and barriers to the transition of care (TOC) from the perspectives of adult surgeons.
Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.
Genes Chromosomes Cancer
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, presenting with heterogeneous clinical and molecular subtypes. While gene fusions are predominantly associated with alveolar RMS, spindle cell RMS, especially congenital and intraosseous variants, are also linked to specific gene fusions. Furthermore, recently, FGFR1 kinase-driven RMSs were published.
View Article and Find Full Text PDFUrine miRNA signature as potential non-invasive diagnostic biomarker for Hirschsprung's disease.
Front Mol Neurosci
January 2025
Department of Pediatric Surgery, Medical Faculty of Mannheim, University of Heidelberg, Mannheim, Germany.
Hirschsprung's disease (HSCR) is characterized by congenital absence of ganglion cells in the gastrointestinal tract, which leads to impaired defecation, constipation and intestinal obstruction. The current diagnosis of HSCR is based on Rectal Suction Biopsies (RSBs), which could be complex in newborns. Occasionally, there is a delay in diagnosis that can increase the risk of clinical complications.
View Article and Find Full Text PDFGenetic variation in patent foramen ovale: a case-control genome-wide association study.
Front Genet
January 2025
Department of Neurology, West China Hospital of Sichuan University, Chengdu, China.
Background: Patent foramen ovale (PFO) is a congenital defect between the atria, resulting in abnormal hemodynamics. We conducted a genome-wide association study (GWAS) to identify common genetic variants associated with PFO.
Methods: We performed a whole genome sequencing in a discovery cohort of 3,227 unrelated Chinese participants screened for PFO via contrast transthoracic echocardiography (cTTE).
Unlabelled: X-linked Lymphoproliferative Syndromes (XLP), which arise from mutations in the or genes, are characterized by the inability to control Epstein-Barr Virus (EBV) infection. While primary EBV infection triggers severe diseases in each, lymphomas occur at high rates with XLP-1 but not with XLP-2. Why XLP-2 patients are apparently protected from EBV-driven lymphomagenesis, in contrast to all other described congenital conditions that result in heightened susceptibility to EBV, remains a key open question.
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