Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of Heart--Hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review of relevant literature.
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Egypt Heart J
January 2025
Intensivista Pediátrico, Fundación Clínica Infantil Club Noel, Cali, Colombia.
Background: The mitroaortic intervalvular fibrosa is an avascular structure near the left ventricular outflow tract, between the mitral and aortic valves. Mitroaortic intervalvular fibrosa complications, such as tamponade, hemopericardium, and abscesses, are rare and often diagnosed postmortem. On the other hand, the COVID-19 pandemic notably impacted pediatric patients with congenital heart diseases, who frequently presented cardiac complications including arrhythmias, elevated troponins, myocarditis, and heart failure.
View Article and Find Full Text PDFFront Genet
January 2025
Human Genetics Department, School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Background: Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.
Methods: We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA).
Cureus
December 2024
Cardiology, University Clinics of Kinshasa, Kinshasa, COD.
Adrenocortical carcinomas are rare but aggressive tumors that are frequently discovered as incidentalomas. Secretory tumors often lead to endocrine abnormalities, namely cushingoid features, virilization, or feminization. Non-functioning tumors, on the other hand, can be completely dormant with an insidious course or cause malaise, weight loss, abdominal pain, etc.
View Article and Find Full Text PDFHand (N Y)
January 2025
Institute for Plastic Surgery, Southern Illinois University School of Medicine, Springfield, USA.
Background: Aggressive digital papillary adenocarcinoma (ADPA) is a rare skin adnexal tumor with a predilection for the hand. The presentation, treatment, and outcomes of ADPA remain poorly defined due to the scarcity of reports and low-level evidence of published findings.
Methods: We performed a meta-analysis following Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines with the intent to provide hand surgeons a better understanding of the diagnosis and treatment of the disease.
Planta
January 2025
School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, UK.
A microRNA with a non-canonical precursor structure harbours an intron in between its miRNA-5p and miRNA-3p relevant for its biogenesis, is conserved across Solanaceae, and targets the mRNA of low phosphate root. Hundreds of miRNAs have been identified in plants and great advances have been accomplished in the understanding of plant miRNA biogenesis, mechanisms and functions. Still, many miRNAs, particularly those with less conventional features, remain to be discovered.
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