Results 191 to 200 of about 27,436 (251)
Sella turcica bridging as a potential diagnostic tool for dental anomalies: A retrospective cross-sectional study at university dental hospital. [PDF]
Al-Zahrani YA +5 more
europepmc +1 more source
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters +17 more
wiley +1 more source
Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
From Optimism to Opportunity: New Perspectives on the Osteological Paradox
ABSTRACT The Osteological Paradox has had an immeasurable impact on bioarchaeology. It has spurred introspection, increased scientific rigor, and encouraged a suite of new and valuable approaches and methods to deal with the challenges it raises.
Clare McFadden +7 more
wiley +1 more source
Abstract This study evaluated the morphogenesis of the temporomandibular joint (TMJ) in human fetuses during the third month of gestation through the analysis of immunohistochemistry for the proteins Indian Hedgehog (IHH), Patched‐1 (PTCH1), and Smoothened (SMO).
Filipe Santos da Silva +5 more
wiley +1 more source
ABSTRACT Paratesticular rhabdomyosarcoma is a rare malignancy in children and adolescents that frequently presents diagnostic challenges when mimicking benign inflammatory conditions. We report the case of a 14‐year‐old previously healthy male who presented with acute right scrotal pain and swelling initially diagnosed as epididymo‐orchitis.
Saif Khaled Abdalhadi Azzam +9 more
wiley +1 more source
CACNA1S mutation-associated dental anomalies: A calcium channelopathy. [PDF]
Kantaputra P +15 more
europepmc +1 more source
This graphical abstract summarizes long‐term national trends and demographic disparities in mortality related to co‐occurring ischemic heart disease (IHD) and cardiac arrhythmias in the United States between 1999 and 2024, derived from the Centers for Disease Control and Prevention Wide‐ranging Online Data for Epidemiologic Research (CDC WONDER ...
Muhammad Murtaza +10 more
wiley +1 more source
ABSTRACT Background Low‐flow vascular malformations (LFVMs) of the head and neck, including venous and lymphatic malformations, represent a heterogeneous group of congenital anomalies frequently requiring intervention due to functional and esthetic impairment.
Riccardo Nocini +6 more
wiley +1 more source

