Results 41 to 50 of about 75,672 (332)

An Influence of Birth Weight, Gestational Age, and Apgar Score on Pattern Visual Evoked Potentials in Children with History of Prematurity

Neural Plasticity, 2015
Purpose. The objective of our study was to examine a possible influence of gestational age, birth weight, and Apgar score on amplitudes and latencies of P100 wave in preterm born school-age children. Materials and Methods. We examined the following group
Marta Michalczuk, Beata Urban, Beata Chrzanowska-Grenda, Monika Oziębło-Kupczyk, Alina Bakunowicz-Łazarczyk   +4 more
doaj   +1 more source

Congenital cataracts presenting as a childhood squint

British and Irish Orthoptic Journal, 2012
Aim:  A timely reminder that a small posterior subcapsular cataract could present with a squint. Methods:  A case series is reported of 4 patients who were referred to the paediatric ophthalmology service for management of a squint.
Shanel Sharma, Chloe Lafferty, G. G. W. Adams   +2 more
doaj   +1 more source

Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation [PDF]

, 2006
The planar cell polarity (PCP) pathway is conserved throughout evolution, but it mediates distinct developmental processes. In Drosophila, members of the PCP pathway localize in a polarized fashion to specify the cellular polarity within the plane of the
Brinkman, Brendan C., Chen, Ping, Dickinson, Mary E., Fraser, Scott E., Hamblet, Natasha S., Mark, Sharayne, Segil, Neil, Wallingford, John B., Wang, Jianbo, Wynshaw-Boris, Anthony   +9 more
core   +1 more source

Esketamine/Ketamine: Dual‐Action Mechanisms and Clinical Prospects beyond Anesthesia in Psychiatry, Immunology, and Oncology

Advanced Science, EarlyView.
Esketamine and ketamine are widely used for perioperative analgesia and anesthesia. Despite their established roles in analgesia, sedation, and anesthesia, as well as emerging antidepressant, anti‐tumor, and anti‐inflammatory effects, their clinical use is limited due to side effects and addiction potential.
Yinxin Wang, Jiangang Xu, Xinyu Zhou, Lu Che, Minghan Qiu, Yang Liu, Ming Gao, Zhen Yang   +7 more
wiley   +1 more source

Treatment timing and multidisciplinary approach in Apert syndrome [PDF]

, 2015
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO, DI GIORGIO, GIANNI, FADDA, Maria Teresa, IERARDO, GAETANO, LADNIAK, BARBARA, RAPONI, INGRID, SILVESTRI, ALESSANDRO   +6 more
core   +2 more sources

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Amblyopia [PDF]

, 2016
Amblyopia is, aside from refractive error, the most common cause of visual loss in children. Thus amblyopia is a serious public health issue. When diagnosed and treated early, the visual losses may be easily reversed.
Levi, DM
core  

Development and application of the Chinese version of the adult strabismus quality of life questionnaire (AS-20): a cross-sectional study [PDF]

, 2013
Background Patients with strabismus experience visual dysfunction, self-image disorders, low self-esteem, and social and emotional barriers, which adversely influence their health-related quality of life (HRQoL).
Bian, Wei, Frey, Rosemary, Ren, Hui, Tang, Ling-Fei, Wang, Xian-Yuan, Wang, Zong-Hua   +5 more
core   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source