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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 PDFPseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFPatent foramen ovale: A variant of normal or a true congenital heart disease?
Cardiovasc Pathol
January 2025
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, Padova, Italy. Electronic address:
Foramen ovale plays a key role in foetal circulation, however it may remain patent after birth throughout the life. Its patency is so frequent in healthy people (27-35 %), such as to be considered a variant of normal. It is at risk of complications, like paradoxical embolism by right to left shunt with stroke, migraine, temporary blindness, as well as aneurysm, thrombosis and endocarditis of the fossa ovalis.
View Article and Find Full Text PDFA Series of 40 Congenital Lung Malformation Cases and the Informative Value of CPAM Lesion Ratios.
Pediatr Rep
January 2025
Clinic for Pediatric Surgery, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Introduction: In this single-center retrospective analysis, we present case data and insights gathered over the past eight years. Additionally, we computed postnatal, pre-therapy lesion-to-lung ratios of Congenital Pulmonary Airway Malformations (CPAMs) to retrospectively assess potential outcome prediction using lesion-to-lung ratios.
Methods: Data were collected between 2015 and 2022.
Clinical Features and Risks of Congenital Melanocytic Naevi: A Retrospective Analysis of Patients at the Queensland Children's Hospital.
Australas J Dermatol
January 2025
QCIF Bioinformatics, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Background/objectives: Congenital melanocytic naevi (CMN) are a risk factor for melanoma. Melanoma risk is dependent on the congenital phenotype. Our primary aims were to assess the clinical characteristics of CMN that indicate a high risk of neurocutaneous melanosis (NCM) and melanoma in an Australian paediatric population group; to identify patient characteristics and clinical features of CMN that trigger further investigations; and to determine the rate of malignancy and other complications for CMN.
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