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Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.
J Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDF[Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability].
Zhonghua Nei Ke Za Zhi
February 2025
Department of Critical Care Medicine, the First Hospital of Tsinghua University, Beijing100016, China.
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor's professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China.
View Article and Find Full Text PDFNeonatal and Pediatric Pulmonary Vascular Disease.
Radiol Clin North Am
March 2025
Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Pediatric patients are affected by a wide variety of pulmonary vascular diseases ranging from congenital anomalies diagnosed at birth to acquired diseases that present later in childhood and into adolescence. While some pulmonary vascular diseases present similarly to those seen in adults, other forms are unique to children. Knowledge of the characteristic imaging features of these diseases is essential to facilitate prompt diagnosis and guide clinical management.
View Article and Find Full Text PDFClassification of Fibro-osseous Tumors in the Craniofacial Bones using DNA Methylation and Copy Number Alterations.
Mod Pathol
January 2025
Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, the Netherlands; Department of Pathology, Amsterdam University Medical Center, Amsterdam, the Netherlands. Electronic address:
Fibro-osseous tumors of the craniofacial bones are a heterogeneous group of lesions comprising cemento-osseous dysplasia (COD), cemento-ossifying fibroma (COF), juvenile trabecular ossifying fibroma (JTOF), psammomatoid ossifying fibroma (PsOF), fibrous dysplasia (FD), and low-grade osteosarcoma (LGOS) with overlapping clinicopathological features. However, their clinical behavior and treatment differ significantly, underlining the need for accurate diagnosis. Molecular diagnostic markers exist for subsets of these tumors, including GNAS mutations in FD, SATB2 fusions in PsOF, mutations involving the RAS-MAPK signaling pathway in COD, and MDM2 amplification in LGOS.
View Article and Find Full Text PDFSystematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Int J Pediatr Otorhinolaryngol
January 2025
Northeast Ohio Medical University College of Medicine, 4209 St, OH-44, Rootstown, OH, 44272, USA; HEARS, LLC, 632 E. Market St, Ste B, Akron, OH, 44304, USA. Electronic address:
Objectives: Define the extent to which pathogenic GJB2 (gap junction beta-2) variants are responsible for non-syndromic hearing loss (NSHL) in the Asian population.
Methods: Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. CINAHL, Embase, and PubMed's MEDLINE were accessed from 1997 to 2023 using permutations of the MeSH terms: "Asian," ''Southeast Asian,'' "South Asian," "East Asian," "Southeastern Asian," and "GJB2.
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