Results 191 to 200 of about 66,364 (302)

Epileptic encephalopathy with spike‐and‐wave activation in sleep associated with Tatton–Brown–Rahman syndrome responsive to highly purified cannabidiol

Epileptic Disorders, EarlyView.
Anita N. Datta
wiley   +1 more source

External cephalic version outcomes with tocolysis and sedation: A 10‐year retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To evaluate the effectiveness and safety of external cephalic version (ECV) performed with tocolysis and sedation or spinal anesthesia, and to identify predictors of ECV success, complications, and delivery outcomes after successful ECV. Methods This 10‐year cohort study included 990 pregnant women with term non‐cephalic presentation
Javier Sánchez‐Romero, Rosa María Gallego‐Pozuelo, José Eliseo Blanco‐Carnero, Javier Herrera‐Giménez, Fernando Araico‐Rodríguez, Alberto Rafael Guijarro‐Campillo, Aníbal Nieto‐Díaz, Catalina de Paco‐Matallana   +7 more
wiley   +1 more source

Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes. [PDF]

Front Pediatr
Zhao Q, Wang S, Wang Y, Ding S.
europepmc   +1 more source

Evaluation of DNA/Chromosome Integrity and Cell Death in Human Metabolically Noncompetent and Competent Cells Exposed to N′‐(3,5‐Difluorobenzylidene)Pyridine‐4‐Carbohydrazide

Journal of Applied Toxicology, EarlyView.
ABSTRACT The N‐acylhydrazone scaffold is recognized as a privileged structure for the design of bioactive substances with increasing applications in medicinal chemistry research. Ensuring the safety of newly developed molecules is a critical step for both human health and environmental protection. Accordingly, this study aimed to evaluate the cytotoxic
Larissa Ribeiro Canuto Santos, Jéssica Natalia Barbosa de Almeida, Camila Cavalleiro Frias, Wanda Pereira Almeida, Edson Luis Maistro   +4 more
wiley   +1 more source

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 more
europepmc   +1 more source

Characterizing Secondary Velopharyngeal Surgery in Children With Cleft Palate at an Academic Center

The Laryngoscope, EarlyView.
In this retrospective study of children undergoing primary palatoplasty at a single academic institution, 10.8% required secondary surgery for velopharyngeal insufficiency. Multivariate analysis demonstrated that private insurance was associated with decreased odds of secondary surgery, while Asian race was associated with increased odds.
Lauren E. Williamson, Krishna G. Patel, Matthew H. Cheung, Mathew J. Gregoski, Melissa S. Montiel, Phayvanh P. Pecha   +5 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation. [PDF]

Cureus
Silva MF, Machado Sousa V, Santos RS, Pimenta JP, Reis Costa H.   +4 more
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion. [PDF]

J Med Cases
Soliman A, Schmidt J, Tobias JD, Smith A.   +3 more
europepmc   +1 more source