Results 81 to 90 of about 70,756 (309)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Superior Lens Coloboma with Superior Rectus Palsy and Congenital Ptosis

Journal of Optometry, 2009
A lens coloboma is characterized by the lens tissue's notching at the equator. It is usually inferior-nasal else it is called an atypical coloboma. We report a young male who presented with a superior lens coloboma, an elevation deficit and moderate ...
Jitendra Jethani, Vishal R. Sharma, Kenshuk Marwah   +2 more
doaj   +1 more source

Chinese Guidelines for Diagnosis and Treatment of Chronic Rhinosinusitis (2024)

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Chronic rhinosinusitis (CRS), a complex inflammatory disease with heterogeneous pathogenesis, demands evolving evidence‐based strategies. Since the 2018 Chinese guidelines and EPOS2020, international advances in CRS immunopathology and biologics have revolutionized therapeutic approaches, particularly through phenotype–endotype classification ...
Subspecialty Group of Rhinology, Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery, Subspecialty Group of Rhinology, Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association   +4 more
wiley   +1 more source

Skin‐Reducing Mastectomy and Implant Reconstruction: Long‐Term Surgical, Oncological, and Patient‐Reported Outcomes

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Skin‐reducing mastectomy (SRM) allows implant‐based immediate breast reconstruction in women with large, ptotic breasts. This study aimed to evaluate the surgical and patient‐reported outcomes (PRO) following SRM. Methods A retrospective analysis was conducted on patients who underwent SRM between January 2011 and December 2014 ...
Gaik Si Quah, Meagan Brennan, James French, Elisabeth Elder   +3 more
wiley   +1 more source

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Sex‐specific impact of repeated adolescent vapour exposure to JWH‐018 on dopamine response, behaviour and pharmacokinetics across adolescence and adulthood

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Alarming trends show that vaping e‐cigarettes containing synthetic cannabinoid receptor agonists, such as JWH‐018, is increasing among youth. However, the effects of these trends are unclear in both sexes. We therefore characterized the neuropharmacological effects of adolescent JWH‐018 inhalation in male and female rats.
Nicholas Pintori, Cristina Manis, Enrica Spano, Nicola Simola, Alessandro Ieraci, Pierluigi Caboni, Gaetano Di Chiara, Maria Antonietta De Luca   +7 more
wiley   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Presentations and causes of blepharoptosis in Yazd, Iran

Journal of Research in Medical Sciences, 2006
BACKGROUND: Drooping of the upper eyelid (blepharoptosis or ptosis) is not an uncommon ocular problem. The causes of ptosis could be myogenic, aponeurotic, mechanical or traumatic. Detailed assessments of the cause, degree of ptosis and levator functions
Mohammad Reza Besharati, Mohammad Reza Shoja   +1 more
doaj  

Refractive status and ocular biometric parameters in children undergoing the levator muscle-conjoint fascial sheath complex suspension

BMC Ophthalmology
Purpose To evaluate the effect of the levator muscle-conjoint Fascial Sheath Complex Suspension on ocular biometric parameters and refractive status in children with congenital blepharoptosis.
Ting Fu, Shunguo Ma, Huiyang Ai, Yuan Zhang, Jingmin Guo, Yan Jiang, Rong Liu   +6 more
doaj   +1 more source