An increased understanding of embryogenesis has advanced our fundamental knowledge of limb anomalies. Animal models with similar limb patterning have been used to dissect and manipulate crucial signaling centers that affect limb development and orientation. Experimental embryologists can produce limb anomalies that are similar to the human phenotype encountered in clinical practice. The evaluating physician must possess a basic comprehension of embryogenesis and limb formation to comprehend congenital limb anomalies and to communicate relevant knowledge to the family. This Current Concepts article is intended to provide an update of limb development that is germane to the clinical scenario.
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http://dx.doi.org/10.1016/j.jhsa.2009.06.013 | DOI Listing |
Adv Wound Care (New Rochelle)
January 2025
Department of Plastic and Reconstructive Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Drugs regulating hypoxia-inducible factor (HIF)-1α have not been investigated for wound healing in lymphedema. Therefore, we examined the effects of drug modulation of HIF-1α activity for wound healing in our previously developed mouse model of nonirradiated hind limb lymphedema. Mouse hind limb lymphedema models ( = 17) and a sham group ( = 6) were created using 8- to 10-week-old male C57BL/6N mice.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.
Polycomb group (PcG) and Trithorax group (TrxG) complexes represent two major components of the epigenetic machinery. This study aimed to delineate phenotypic similarities and differences across developmental conditions arising from rare variants in PcG and TrxG genes, using data-driven approaches. 462 patients with a PcG or TrxG-associated condition were identified in the DECIPHER dataset.
View Article and Find Full Text PDFOpen Heart
January 2025
Department of Cardiac Surgery, University Hospital Erlangen, Erlangen, Bayern, Germany
Background: Aortic coarctation (CoA) is a congenital anomaly leading to upper-body hypertension and lower-body hypotension. Despite surgical or interventional treatment, arterial hypertension may develop and contribute to morbidity and mortality. Conventional blood pressure (BP) measurement methods lack precision for individual diagnoses and therapeutic decisions.
View Article and Find Full Text PDFClin J Sport Med
January 2025
Memorial Care Long Beach Medical Center, Long Beach, California.
Objective: The exertional compartment syndrome (ECS) is often a delayed diagnosis. Compartment pressure measurements (CPM) confirm the diagnosis. Herein we present our algorithm for the evaluation and management (E&M) of ECS.
View Article and Find Full Text PDFBackground: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.
Case: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles.
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