Results 41 to 50 of about 12,822 (221)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Analysis of Refractive Errors in a Large Italian Cohort of Pediatric Subjects Post the COVID-19 Pandemic

Life, 2023
Background: The prevalence of refractive errors has sharply risen over recent decades. Despite the established role of genetics in the onset and progression of such conditions, the environment was also shown to play a pivotal role.
Michele Lanza, Adriano Ruggiero, Matteo Ruggiero, Clemente Maria Iodice, Francesca Simonelli   +4 more
doaj   +1 more source

Monovision LASIK in emmetropic presbyopic patients. [PDF]

, 2018
BackgroundTo evaluate the efficacy and patient satisfaction of laser in situ keratomileusis (LASIK) monovision correction in presbyopic emmetropic patients.MethodsA retrospective review of 294 patients who underwent LASIK for monovision was conducted ...
Hannan, Stephen, Peng, Michelle Y, Schallhorn, Julie M, Schallhorn, Steven J, Teenan, David   +4 more
core  

Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]

, 2016
Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D., Capra, Valeria, Cheng, Guo, Cherny, Stacey S., De Marco, Patrizia, Garcia-Barcelo, Maria-Mercè, Merello, Elisa, Porsch, Robert M., Rodriguez, Laura, Sham, Pak C., So, Manting, Tam, Paul K.   +11 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

Restrictive extraocular myopathy: A presenting feature of acromegaly

Indian Journal of Ophthalmology, 2011
A 45-year-old man presented with binocular diplopia in primary gaze for 1 year. Orthoptic evaluation showed 10-prism diopter right eye hypotropia and 6-prism diopter right eye esotropia.
Steven Heireman, Christophe Delaey, Ilse Claerhout, Christian E Decock   +3 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Ophthalmic disorders among students of School for the Deaf [PDF]

, 2012
Aim: This study aimed at determining the prevalence and pattern of ophthalmic disorders amongstudents of School for the Deaf, Akure, Ondo State, Nigeria.Methodology: This is a cross sectional descriptive study was conducted in October, 2011 aspart of ...
O, Adeniji A, O, Komolafe O, O, Omolase C   +2 more
core   +1 more source

Prevalence of refractive errors in children in India: a systematic review [PDF]

, 2018
Uncorrected refractive error is an avoidable cause of visual impairment which affects children in India. The objective of this review is to estimate the prevalence of refractive errors in children ≤ 15 years of age.
Aditi Modi, Ahmed, Ajith, Ambika, Baltussen, Bandrakalli, Barendregt, Basu, Bharani Seelam, Dandona, Dandona, Dandona, Ganekal, Ghosh, Gupta, Gupta, Higgins, Higgins, Jose, Kalikivayi, Leat, Limburg, Limburg, Lisa Keay, Manny, Munn, Murthy, Murthy, Mutti, Negrel, Nirmalan, Packwood, Padhye, Phanindra B Nukella, Pratt, Priya, Rahul Ali, Ramamurthy, Rewri, Rose, Rustagi, Saxena, Saxena, Seema, Sethu Sheeladevi, Singh, Uzma, Williams, Wu   +48 more
core   +1 more source

Navigating the Net Zero Transition: Towards Improved Effectiveness of Corporate Decarbonization Strategies

Business Strategy and the Environment, EarlyView.
ABSTRACT With net zero CO2 emissions as the benchmark for mitigating the worst impacts of climate change by mid‐century, businesses are urged to deploy robust reduction measures. However, in light of increasing emissions globally, the effectiveness of current corporate decarbonization strategies remains unclear.
Linda Schenzle, Timo Busch
wiley   +1 more source