Results 31 to 40 of about 18,317 (239)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Factors Predisposing to Amblyopia After Exotropia Surgery

Acta Medica Iranica, 2021
- Amblyopia (lazy eye) is one of the significant complications of strabismus surgery. It is the most important cause of unilateral visual impairment in both children and adults.
Qader Motarjemizadeh, Naser Samadi Aidenloo   +1 more
doaj   +1 more source

Research status of fetal hydrocephalus from 2003 to 2022 based on bibliometric analysis

Ibrain, EarlyView.
In this study, we extracted 613 articles related to hydrocephalus from the Web of Science Core Collection (WOSCC) database published from January 01, 2003 to December 31, 2022, and 613 articles were obtained after weight reduction using CiteSpace. CiteSpace and VOSviewer software were used to extract and visualize the elements of the article, including
Qian Li, Zheyu Song, Chenyang Zhai, Sajid Hussain, Wenxue Zhao, Shunwu Xiao   +5 more
wiley   +1 more source

Strabismus Accompanying Pediatric Cataracts and the Effect of Cataract Surgery on Strabismus

Türk Oftalmoloji Dergisi
Objectives: To examine the characteristics of preoperative strabismus, the impact of surgical treatment on existing strabismus, and the features of strabismus developing postoperatively in pediatric cataract patients.
Gülsüm Genç Bozhöyük, Nigar Rustamlı, Pınar Bingöl Kızıltunç, Huban Atilla   +3 more
doaj   +1 more source

Maternal diabetes mellitus during pregnancy as a risk factor for strabismus and refractive errors in the offspring—A large‐scale national study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To investigate whether maternal diabetes during pregnancy is associated with increased risk of strabismus and refractive errors (RE) in their offspring. Methods This retrospective cohort study utilized electronic medical records from Clalit Health Services (CHS) in Israel, 2001–2023. Births were categorized by maternal diabetes type (
Nir Amitai, Tomer Kerman, Tamar Eshkoli, Ahed Imtirat, Amichai Raz, Itamar Ben Shitrit, Dor Marciano, Eyal Sheiner, Erez Tsumi   +8 more
wiley   +1 more source

The impact of orbital bony or fat decompression on the outcome of strabismus surgery in patients with Graves’ ophthalmopathy

Journal of the Formosan Medical Association, 2019
Background/Purpose: To compare the outcomes of strabismus surgery in patients with Graves’ ophthalmopathy (GO) who had undergone bone removal orbital decompression (BROD) or fat removal orbital decompression (FROD) with those who had not undergone any ...
Jason Kian Seng Lee, Chen Hsieh, Yi-Hsuan Wei, Shu-Lang Liao   +3 more
doaj  

Predictive factors of stereopsis outcomes following strabismus surgery

Therapeutic Advances in Ophthalmology, 2021
Purpose: To determine the predictive factors of post-operative stereopsis in patients with strabismus. Method: In this retrospective study, records of patients who received surgical treatment for strabismus were reviewed.
Mohammad Eshaghi, Amir Arabi, Shahram Banaie, Toktam Shahraki, Sarvin Eshaghi, Hamed Esfandiari   +5 more
doaj   +1 more source

Peripheral vestibular syndrome in cats: Clinical presentation, diagnostic findings and outcome in 196 cases

Veterinary Record, EarlyView.
Abstract Background Disorders of the vestibular system are frequent in cats. This study aimed to describe the clinical presentation, diagnostic findings, underlying aetiologies and outcome of cats with peripheral vestibular syndrome (PVS). Methods This was a retrospective study of cats presented with PVS at four referral hospitals.
Jordina Caldero Carrete, Steven De Decker, Holger A. Volk, Rodrigo Gutierrez‐Quintana, Anna Morgana Mosel, Rita Gonçalves   +5 more
wiley   +1 more source

Central Serous Chorioretinopathy Following Strabismus Surgery

Delhi Journal of Ophthalmology, 2018
Central serous chorioretinopathy (CSCR) has been reported to occur after various kinds of intraocular surgery. We discuss a case of CSCR occurring in a 38-year male after an uneventful strabismus surgery.
Savleen Kaur, Zoramthara Zadeng, Mangat R. Dogra   +2 more
doaj   +1 more source