Results 61 to 70 of about 49,164 (302)

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Unfavourable results in craniofacial surgery

Indian Journal of Plastic Surgery, 2013
Craniofacial surgery is one of the newer subspecialties of plastic surgery and owes its birth to the pioneering work of Paul Tessier in the late sixties.
Ramesh Kumar Sharma
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

The Reconstruction of the Nasal Columella Defect Using Domino Flaps

Archives of Plastic Surgery
Skin defects of the total nasal columella can significantly impact both nasal respiratory function and aesthetics. The reconstruction of total columella is a complex process and represents a significant challenge for plastic surgeons. Various factors can
Le Diep Linh, Luu Phuong Lan, Nguyen Phuong Tien, Nguyen Quoc Manh, Vu Ngoc Lam, Nguyen Quang Duc   +5 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Plastic Surgery Contributions to the World Wars: Historical Foundations for Modern Craniofacial Techniques

Introduction:Plastic surgery played a crucial role during the World Wars. Surgeons dedicated their careers to reconstructing facial injuries and residual deformities incurred during combat. Times of unprecedented trauma led to rapid innovation in plastic
Prasad, Soumil, Treger, Dylan, Thaller, Seth R., Taylor, Ruby   +3 more
core   +1 more source

Detailed anatomical analysis of the sphenoid sinus and sphenoid sinus ostium by cone beam computed tomography

, 2016
The Journal of Craniofacial Surgery Volume 27, Number 6, September 2016.The aim of this study is the evaluation of the anatomical structures of sphenoid sinus ostium used as a reference point for transsphenoidal surgery by cone beam computed ...
Dedeoğlu, Numan, Yılmaz, Nesibe, Köse,Evren, Çolak, Cemil, Özbağ, Davut, Yilmaz, Nesibe, Durak, Mehmet Akif, Kose, Evren   +7 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Regenerative frontiers in craniofacial reconstruction: Grand challenges and opportunities for the mammalian transforming growth factor-β proteins

Frontiers in Physiology, 2010
Science’s fascination with bone and its repair processes span for thousands of years since the ancient Greek Hippocrates, the father of Medicine, made the key discovery that bone heals without scarring.
Ugo eRipamonti, Roland Manfred Klar
doaj   +1 more source