Results 161 to 170 of about 41,859 (262)

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate. [PDF]

Radiol Case Rep
Imdadoglu T, Unal I, Yasar E, Alomari O, Guzel B, Boyaci E, Altuncu E.   +6 more
europepmc   +1 more source

Surgical management of a penetrating cardiac foreign body causing tamponade in a dog: case report

Australian Veterinary Journal, EarlyView.
Background Penetrating cardiac foreign bodies are rare in dogs but can result in life‐threatening complications, including pericardial effusion and cardiac tamponade. Prompt diagnosis, emergency stabilization, and definitive surgical management are essential to achieve a favorable outcome.
RB Abibe, SC Rahal, GB Mazzali, FJT Neto, VM d V Machado, CVS Brandão   +5 more
wiley   +1 more source

Examining Factors That Impact Speech Acceptability and Intelligibility in 4- to 7-Year-Old Children With Cleft Palate. [PDF]

Cleft Palate Craniofac J
Chee-Williams JL, Liss J, Cordero KN, Scherer NJ.   +3 more
europepmc   +1 more source

The effectiveness of implementation intentions in children: A systematic review and meta‐analysis

British Journal of Psychology, EarlyView.
Abstract Self‐regulation abilities in childhood are important for long‐term academic achievement and healthy development. As self‐regulatory abilities are still developing, ‘simple’ interventions are needed to foster self‐regulation. Implementation intentions are simple plans that could promote goal achievement in children.
Jasmin Breitwieser, Tilman Reinelt
wiley   +1 more source

Training Mechanisms for Healthcare Providers in Feeding Infants With Cleft Palate. [PDF]

Cleft Palate Craniofac J
Kotlarek KJ, Bush EJ, Loomis-Goltl E, Chee-Williams JL.   +3 more
europepmc   +1 more source

The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30‐Year Experience at a Tertiary Paediatric Centre

Clinical Endocrinology, EarlyView.
ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare group of disorders of gonadotropin deficiency, either isolated or as a part of multiple pituitary hormone deficiencies (MPHD). We aimed to describe the spectrum of presentation, diagnosis, and management practices of CHH spanning 30 years at an Australian tertiary paediatric centre. This
Minha Kook, Richard G. McGee, Geoffrey Ambler, Yoon Hi Cho   +3 more
wiley   +1 more source

Advancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics. [PDF]

Int Dent J
Yang C, Ding L, Dong Y, Wang Y, Cao S, Yuan Z, Jia S.   +6 more
europepmc   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

The Role of Surgical Timing and Distance Traveled for Care for Patients Born With Cleft Palate. [PDF]

Cleft Palate Craniofac J
Fonseca V, Quinonez E, McDaniel P, Mirmozaffari Y, Leeper L, Shrestha P, Drake A.   +6 more
europepmc   +1 more source