Results 111 to 120 of about 472,176 (299)
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Medisan, 2011 Se realizó un estudio observacional, descriptivo y transversal de los 139 pacientes egresados del Servicio de Cerebrovascular del Hospital Provincial Clinicoquirúrgico Docente "Saturnino Lora Torres" de Santiago de Cuba con el diagnóstico de ataque ...
María del Carmen Ricardo Cobas +1 more
doaj
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Materials ProceedingsIn this current work, we assume the mathematical modelling of non-Newtonian time-dependent hybrid nanoparticles via a cylindrical stenosis artery.
Tahir Zaman +3 more
doaj +1 more source
Aortic Stenosis with Mitral Stenosis [PDF]
Proceedings of the Royal Society of Medicine, 1929 openaire +2 more sources
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
SensorsHemodialysis therapy is an extracorporeal circulation treatment that serves as a substitute for renal function. In Japan, patients receive this efficient four-hour treatment, three times per week, allowing them to maintain a social life nearly equivalent
Rumi Iwai +8 more
doaj +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
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Healing dynamics after anterior skull base (ASB) reconstruction following transnasal endoscopic surgery (TES) for sinonasal malignancies remain poorly characterized. This study aimed to describe the postoperative healing process, quantify time to healing, identify factors influencing healing, and assess radiologic evolution over ...
Giacomo Contro +22 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson +9 more
wiley +1 more source