American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
Concentrated Growth Factors and Bone Grafting in Maxillary Sinus Lift: A Systematic Review. [PDF]
Int J DentMancini A +7 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
Extent of Sinus Surgery Is Associated With Disease Control in Biologic Treated Type 2 Dominant CRS
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background A greater benefit of biologics is observed after surgery in Type 2 chronic rhinosinusitis with nasal polyps (CRSwNP). However, the extent of surgery remains undefined in many studies. This study evaluated the extent of surgery on disease control in patients receiving biologics for refractory Type 2 dominant CRSwNP.
Nicholas J. Campion +11 more
wiley +1 more source
Chondromyxoid Fibroma of the Right Thumb: Successful Management with Wide Local Excision, Iliac Crest Bone Grafting and K-Wiring - A Rare Case Report. [PDF]
J Orthop Case RepRathod AS +5 more
europepmc +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour +5 more
wiley +1 more source
Platelet-rich plasma-enhanced "plum blossom" bone grafting for refractory femoral nonunion: a single-center study of 33 cases. [PDF]
Front Bioeng BiotechnolChen J +6 more
europepmc +1 more source
Porcine kidney xenotransplantation: From primate models to clinical reality
Animal Models and Experimental Medicine, EarlyView.In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo +3 more
wiley +1 more source
Vascularized Medial Femoral Condyle Bone Grafting as a Salvage Strategy for Recalcitrant Atypical Ulnar Shaft Nonunion After Long-Term Bisphosphonate Therapy. [PDF]
J Hand Surg Glob OnlineKuno H, Zenke Y.
europepmc +1 more source
Development of immunocompetent models for primary and metastatic ER+ breast cancer
Animal Models and Experimental Medicine, EarlyView.This study explores syngeneic, immunocompetent models of ER+ breast cancer in 129S6/SvEv mice, using trackable tumor cells to model both primary tumors and metastasis. The models show promise, while also revealing limitations for studying advanced disease and immune interactions.
Devon M. Bull +5 more
wiley +1 more source