Results 171 to 180 of about 357,946 (218)

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

General anesthesia in patient with Hutchinson-Gilford Progeria syndrome: two case reports of dental treatment in the one patient. [PDF]

BMC Anesthesiol
Mankovsky B, Halushko O, Zablotskyy Y, Synytsyn M.   +3 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Association of Skull Type, Diet, and Chronic Gingivostomatitis with Tooth Resorption in Cats Receiving Dental Treatment. [PDF]

Animals (Basel)
Anusorn P, Satthathum C, Jariyarangsrirattana P, Mongkholdej E, Onnom D, Thengchaisri N.   +5 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

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, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The role of social media in parents' approaches to dental treatment procedures under general anesthesia and sedation: a cross-sectional survey in Turkey. [PDF]

BMC Oral Health
Fidancıoğlu YD, Çatak T.
europepmc   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

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, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

A survey of dental treatment under general anesthesia at the Gyeongnam Dental Clinic Center for the Disabled in Korea. [PDF]

J Dent Anesth Pain Med
Woo MN, Yun G, Yoon JY, Kim EJ, Kim CH.
europepmc   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

Animal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source