Results 51 to 60 of about 1,226,909 (155)

Ocular Misalignment and Motility Limitation in Orbital Tumors

Journal of Ophthalmology, Volume 2026, Issue 1, 2026.
Purpose To predict prognosis and aid in the treatment of residual strabismus/ocular misalignment by analyzing the pattern of ocular motility disturbances caused by orbital tumors, and investigating factors associated with the severity of misalignment or motility limitation.
Min Seok Kang, Namju Kim, Hee Kyung Yang, Jeong-Min Hwang, Shweta Negi   +4 more
wiley   +1 more source

Genetic Aspects of Congenital and Idiopathic Scoliosis

Scientifica, Volume 2012, Issue 1, 2012., 2012
Congenital and idiopathic scoliosis represent disabling conditions of the spine. While congenital scoliosis (CS) is caused by morphogenic abnormalities in vertebral development, the cause(s) for idiopathic scoliosis is (are) likely to be varied, representing alterations in skeletal growth, neuromuscular imbalances, disturbances involving communication ...
Philip F. Giampietro, Frank Acosta, Timothy M. George, Sten Rasmussen   +3 more
wiley   +1 more source

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5, EPB41L1, and SAMHD1, is proposed to be responsible for this syndrome.
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville   +12 more
wiley   +1 more source

The Role of Placental Homeobox Genes in Human Fetal Growth Restriction

Journal of Pregnancy, Volume 2011, Issue 1, 2011., 2011
Fetal growth restriction (FGR) is an adverse pregnancy outcome associated with significant perinatal and paediatric morbidity and mortality, and an increased risk of chronic disease later in adult life. One of the key causes of adverse pregnancy outcome is fetal growth restriction (FGR).
Padma Murthi, Gayathri Rajaraman, Shaun Patrick Brennecke, Bill Kalionis, David F. Lewis   +4 more
wiley   +1 more source

The Clinical Features and Management of Duane's Retraction Syndrome Type 2 in Pediatric Patients

Beyoglu Eye Journal, 2017
INTRODUCTION[|]The aim of this study was to describe the demographic details, features, and clinical management of pediatric patients with Duane retraction syndrome (DRS) type 2.[¤]METHODS[|]A total of 632 charts from patients who were diagnosed with DRS
Asli İnal, Osman Bulut Ocak, Ebru Demet Aygit, Selcen Celik, Berkay Inal, Ahmet Demirok, Birsen Gokyigit   +6 more
doaj   +1 more source

Fertility apps, datafication and knowledge production in reproductive health

Sociology of Health &Illness, Volume 46, Issue 6, Page 1238-1255, July 2024.
Abstract Despite being the target of much criticism, commercialised digital technologies have proliferated in reproductive health arenas. Fertility applications (apps) are now some of the most popular and ubiquitous digital health tracking technologies, with millions of downloads.
Alina Geampana
wiley   +1 more source

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

American Journal of Medical Genetics Part A, Volume 194, Issue 4, April 2024.
Abstract Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p‐22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic ...
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Busa Tiffany, Chantal Missirian, Marjolaine Willems, Sylvie Odent, Josette Lucas, Christele Dubourg, Elise Schaefer, Sophie Scheidecker, James Lespinasse, Alice Goldenberg, Anne‐Marie Guerrot, Géraldine Joly‐Helas, Pascal Chambon, Cédric Le Caignec, Albert David, Charles Coutton, Véronique Satre, Gaëlle Vieville, Florence Amblard, Radu Harbuz, Damien Sanlaville, Marianne Till, Catherine Vincent‐Delorme, Cindy Colson, Joris Andrieux, Sophie Naudion, Jérome Toutain, Caroline Rooryck, Bénédicte de Fréminville, Fabienne Prieur, Valérie Cormier Daire, Daniel Amram, Pascale Kleinfinger, Gisela Raabe‐Meyer, Carolina Courage, Johannes Lemke, Eunice G. Stefanou, Thomaidis Loretta, Manolakos Emmanouil, Sophia Kitsiou Tzeli, Henryka Sodowska, Jasen Anderson, Adayapalam Nandini, Henri Copin, Loïc Garçon, Thomas Liehr, Gilles Morin   +51 more
wiley   +1 more source

Comment on: “Astigmatism in Duane Retraction Syndrome”

BMC Ophthalmology
A recent article provides valuable insights into different aspects of astigmatism in the Duane Retraction Syndrome (DRS) subtypes. The differing underlying pathophysiology in type II DRS and its higher prevalence in the mentioned study, along with ...
Hajar Farvardin, Majid Farvardin
doaj   +1 more source

CRISPR/Cas9 Genome Editing: Future Treatment of Duane Retraction Syndrome [PDF]

, 2022
Duane Retraction Syndrome (DRS) is characterized by limited eye movement. One of its causes is a mutation in the CHN1, MAFB, or SALL4 gene. Nowadays, the treatment for DRS is limited to glasses, occlusion, and surgery.
Wardhani, Bantari W.K., Renesteen, Editha, Zulfikar, Muhammad Raihan   +2 more
core   +1 more source

Coexistence of Idiopathic Intracranial Hypertension with Unilateral Duane Retraction Syndrome Type 1 in an Adult Female

Case Reports in Ophthalmology, 2022
Idiopathic intracranial hypertension (IIH) is a poorly understood condition, and its presentation can coexist with other diseases. Simultaneous IIH and Duane retraction syndrome (DRS) type 1 have never been reported to coexist in an adult patient. Herein,
Abdullah I. Almater, Jawaher Jehad Alwatban, Arwa Z. Alromaih, Motazz Alarfaj, Majed Al-Obailan   +4 more
doaj   +1 more source