Results 71 to 80 of about 22,111 (213)

Pediatric Glaucoma: a literature's review and analysis of surgical results [PDF]

, 2015
The purpose of this paper is to review the surgical options available for the management of pediatric glaucoma, to evaluate their advantages and disadvantages together with their long-term efficacy, all with the intent to give guidelines to physicians on
IACOVELLO, DANIELA, PLATEROTI, PASQUALE, PRANNO, FEDERICA, SCUDERI, GIANLUCA, SCUDERI, LUCA   +4 more
core   +8 more sources

Barriers responsible for delay in surgical correction of strabismus: A study among adults undergoing strabismus surgery at a tertiary care center in Kerala

Kerala Journal of Ophthalmology, 2017
Aim: The aim of this study is to analyze the factors responsible for delay in surgical treatment among adults with strabismus. Materials and Methods: A validated questionnaire-based study on fifty adult strabismic patients, enrolled through simple ...
Sanitha Sathyan, Jasmine Jose
doaj   +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

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Orthoptic status before and immediately after heroin detoxification [PDF]

, 2004
Aim: To determine whether changes in orthoptic status take place during withdrawal from heroin and/or methadone. Method: A prospective study of patients, using a repeated measures design, attending a 5 day naltrexone compressed opiate detoxification ...
Beaini, A.Y., Carr, M.P., Firth, A.Y., Pulling, S.   +3 more
core   +2 more sources

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

2016 International Orthoptic Congress Burian Lecture: folklore or evidence? [PDF]

, 2017
The theme of the 2016 Burian Lecture is how our understanding of strabismus has been changed by the research carried out in our laboratory in Reading over the years.
Anna M. Horwood, Burian H, Firth A., Horwood A., Hoyt C, Maddox E., Sondhi N   +6 more
core   +1 more source

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

SURGERY OF STRABISMUS IN THE ORTHOPTIC PLEOPTIC SECTION OF THE DEPARTMENT OF OPHTALMOLOGY

Zdravniški Vestnik, 2003
Background. Since 1996 there have been 446 patients (107 adults) operated for strabismus. This retrospective study (retrospection) indicated that out of those 107 adults 22 of them suffer from convergent concomitant strabismus, 29 from convergent ...
Marija Vukan-Rudolf
doaj