Results 201 to 210 of about 558,850 (304)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Role of frailty in otorhinolaryngology and head and neck surgery in a secondary and a tertiary care center: a prospective observational two-cohort study. [PDF]

Sci Rep
Herweg J, Mohamed MN, Geißler K, Bitter T, Scholz E, Guntinas-Lichius O.   +5 more
europepmc   +1 more source

Prognostic impact of sarcopenia in patients with head and neck cancer treated with surgery or radiation: A meta-analysis

, 2021
Yukinori Takenaka, Norihiko Takemoto, Ryohei Oya, Hidenori Inohara   +3 more
openalex   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Antibiotic Prophylaxis in Patients Undergoing Oncologic Head and Neck Surgery with Free Flap Reconstruction: Still a Matter of Debate. [PDF]

Antibiotics (Basel)
Goormans F, van Mierlo A, Spriet I, Van de Vyvere G, Knockaert B, Willaert R.   +5 more
europepmc   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

A novel technique for documenting the orientation of resection specimens in head and neck surgery using a 3D scanner. [PDF]

J Oral Maxillofac Pathol
van Rijssel J, Verburg J, Verhulst A, van Engen-van Grunsven I, Dik E.   +4 more
europepmc   +1 more source

Pediatric intraoperative nerve monitoring during thyroid surgery: A review from the American Head and Neck Society Endocrine Surgery Section and the International Neural Monitoring Study Group

, 2022
Gillian R. Diercks, Jeff C. Rastatter, Ken Kazahaya, Dipti Kamani, Lourdes Quintanilla‐Dieck, Maisie L. Shindo, Christopher J. Hartnick, Jennifer J. Shin, Michael C. Singer, Brendan C. Stack, Amy Y. Chen, Maie A. St. John, Joseph Scharpf, Nishant Agrawal, Asitha D. L. Jayawardena, Ayaka J. Iwata, Okenwa C. Okose, Bo Wang, Dioan McIlroy, Anthony Y. Cheung, Che‐Wei Wu, Feng Yu Chiang, Gianlorenzo Dionigi, Marcin Barczyński, Katrin Brauckhoff, Kerstin Lorenz, Dana M. Hartl, Neil Tolley, Jennifer A. Brooks, Rick Schneider, Henning Dralle, Amr H. Abdelhamid Ahmed, Gregory W. Randolph   +32 more
openalex   +2 more sources

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Clean Cut (adaptive, multimodal surgical infection prevention programme) for low‐resource settings: a prospective quality improvement study

BJS (British Journal of Surgery), EarlyView., 2020
Clean Cut is a multimodal, adaptive, checklist‐based infection prevention programme designed to improve compliance with six critical perioperative infection prevention practices. After introducing the programme at five hospitals in Ethiopia, compliance with critical infection prevention standards significantly improved and the relative risk of ...
J. A. Forrester, N. Starr, T. Negussie, D. Schaps, M. Adem, S. Alemu, D. Amenu, N. Gebeyehu, T. Habteyohannes, F. Jiru, A. Tesfaye, E. Wayessa, R. Chen, A. Trickey, S. Bitew, A. Bekele, T. G. Weiser   +16 more
wiley   +1 more source