Results 51 to 60 of about 138,852 (315)

Evaluation of Anxiety in Turkish Parents of Newborns with Cleft Palate with or Without Cleft Lip

, 2023
© 2023, American Cleft Palate Craniofacial Association.Objective: (1) To compare anxiety between parents of newborns with cleft lip and palate (CLP), isolated cleft palate (CP), and healthy newborns and (2) to evaluate anxiety between parental dyads ...
SUNAL AKTÜRK E., ŞEKER E. D., ÇAPKIN D., KÜTÜK M. S.   +3 more
core   +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

ON THE STUDY OF THE PALATE [PDF]

American Journal of Psychiatry, 1896
n ...
openaire   +2 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Methylene Blue Injection for Pain Reduction at Iliac Crest Donor Sites: A Randomized Trial and Meta-analysis

Plastic and Reconstructive Surgery, Global Open
Background:. Postoperative pain and gait disturbance after iliac bone grafting for alveolar clefts significantly impact patients’ quality of life. This study investigated the effect of methylene blue on postoperative analgesia and conducted a meta ...
Cheng Yao, MD, Yilue Zheng, MD, Haizhou Tong, MD, Di Wu, MD, Weiyi Sun, MD, Shuxiu Chen, MD, Yongqian Wang, MD, Tao Song, MD   +7 more
doaj   +1 more source

Tratamiento quirúrgico de insuficiencia velofaringea en pacientes con síndrome velo cardio facial

Anales Médicos, 2023
Introducción: Insuficiencia velofaríngea (IVF) significa que el esfínter velofaríngeo (EVF) no logra sellar la comunicación entre cavidades nasales y tracto vocal situado inferiormente durante el habla.
Pablo-Antonio Ysunza, Matthew Rontal
doaj  

Speech in Adults Treated for Unilateral Cleft Lip and Palate : Long-Term Follow-Up After One- or Two-Stage Palate Repair

, 2017
OBJECTIVE: To evaluate speech in adults treated for unilateral cleft lip and palate with one-stage or two-stage palate closure and compare the speech of the patients with that of a noncleft control group.DESIGN: Cross-sectional study with long-term ...
Stålhammar, Lilian,, Morén, Staffan,, Holmström, Mats,, Mani, Maria,, Lindestad, Per Åke,   +4 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Association Between Cleft Size and Crossbite in Children With Cleft Palate and Unilateral Cleft Lip and Palate

, 2010
Objective: To investigate the association between cleft size in infancy and crossbite at 5 years of age in children with cleft palate (CP) and unilateral cleft lip and palate (UCLP). Design: Retrospective study.
Reiser, Erika,, Skoog, Valdemar,, Gerdin, Bengt,, Andlin-Sobocki, Anna,   +3 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source