Results 31 to 40 of about 1,431,497 (181)

A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: With this case report, we would like to highlight the importance of a multidisciplinary approach and atypical findings of congenital high airway obstruction sequence (CHAOS), anhydramnios, and renal dysgenesis in the prenatal diagnosis of ...
Jyothsna Madan, Mitesh Shetty, B.S. Ramamurthy, Surekha Managoli   +3 more
doaj   +1 more source

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas

Diagnostics, 2023
Background: Supernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the premaxilla region. The objective of the study was to investigate the genetic
Piranit Nik Kantaputra, Kanich Tripuwabhrut, Robert P. Anthonappa, Kanoknart Chintakanon, Chumpol Ngamphiw, Ploy Adisornkanj, Nop Porntrakulseree, Bjorn Olsen, Worrachet Intachai, Raoul C. Hennekam, Alexandre R. Vieira, Sissades Tongsima   +11 more
doaj   +1 more source

Fraser syndrome with extremely rare features of unilateral anophthalmia and penile torsion in an Afghan neonate: A case report

Global Pediatrics
Background: Fraser syndrome is a very rare genetic disorder with multiple organ-system abnormalities. The diagnosis is usually made on the basis of clinical examination, and management requires a multidisciplinary approach.
Turyalai Hakimi, Mansoor Aslamzai
doaj   +1 more source

Region-specific slowing of alpha oscillations associated with visual-perceptual abilities in children born very preterm

Frontiers in Human Neuroscience, 2013
Children born very preterm (≤32 weeks GA) without major intellectual or neurological impairments often express selective deficits in visual-perceptual abilities.
Sam McLeod Doesburg, Alexander eMoiseev, Anthony T Herdman, Urs eRibary, Ruth Eckstein Grunau   +4 more
doaj   +1 more source

Definition and surgical timing in cauda equina syndrome-An updated systematic review.

PLoS ONE, 2023
Study designSystematic review.ObjectivesTo conduct a systematic review identifying existing definitions of cauda equina syndrome (CES) and time to surgery in the literature for patients with CES.MethodsA systematic review was conducted in accordance with
Mohammad A Mustafa, George E Richardson, Conor S Gillespie, Abdurrahman I Islim, Martin Wilby, Simon Clark, Nisaharan Srikandarajah   +6 more
doaj   +1 more source

Simultaneous cochlear implantation and ipsilateral branchial cleft fistula excision in a pediatric patient

Otolaryngology Case Reports, 2021
Branchio-oto-renal syndrome (BOR), also known as Melnick-Fraser Syndrome, is an autosomal dominant genetic disorder resulting from a mutation of the EYA-1 gene and characterized by branchial cysts or fistulas, ear anomalies, hearing loss, agenesis or ...
Ali Khurram, Cynthia Wang, Charles Saadeh, Kenneth Lee   +3 more
doaj   +1 more source

Longitudinal Changes in Adiposity After a Youth Sport‐Related Knee Injury: Informing Posttraumatic Osteoarthritis Prevention

Arthritis Care &Research, EarlyView.
Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale, Nuria E. J. Jansen, Christina Y. Le, Leo Lu, Hui Xie, Marienke van Middelkoop, Jackie L. Whittaker   +6 more
wiley   +1 more source

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Molecular Genetics & Genomic Medicine, 2021
Background Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three‐dimensional abnormality of the leg, ankle, and feet that ...
Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali   +17 more
doaj   +1 more source

Microfluidic Droplet Plate Preserving Single Human Induced Pluripotent Stem Cell‐Derived Cardiomyocytes Morphology and Function

Advanced Materials Technologies, EarlyView.
We introduce a novel method combining microfluidics, optogenetics, and human induced pluripotent stem cell (iPSC) technology to encapsulate single iPSC‐derived cardiomyocytes (iPSC‐CMs) in an optimal environment for functional characterization. This method enables direct genotype‐phenotype correlation for genetic studies and high‐throughput screening ...
Xiao‐Ting Wang, Rachel P. White, Yashasvi Tharani, Michael A. Finocchiaro, Leona M. Ripple, Maksymilian Prondzynski, Tania Konry, Vassilios J. Bezzerides   +7 more
wiley   +1 more source

Diagnosing the system: Mental health, necropolitical uncare, and the abolition of migration detention

American Journal of Community Psychology, EarlyView.
Abstract This article examines the psychological effects of migration detention in the European Union's Closed Controlled Access Center (CCAC) on Samos through an ecological lens. It explores a double normalization of suffering: the brutalization of necropolitical migration governance and the simultaneous understanding of resulting distress as an ...
Julia Manek
wiley   +1 more source