Results 31 to 40 of about 13,805 (157)
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
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 +6 more
wiley +1 more source
Distribution Pattern of Refractive Errors in Strabismic Iranian Children
Journal of Modern Rehabilitation, 2023 Introduction: The purpose of the present study was to determine the refractive profile of strabismic children under 8 in a tertiary referral center in Tehran, Iran.
Haleh Kangari +4 more
doaj +1 more source
Офтальмохирургия, 2016 Purpose. A comparative analysis of cornea histomorphology of adults and children with hyperopic refraction after femtosecond laser intrastromal keratomileusis (FemtoLASIK).Material and methods.
N. P. Pashtaev +2 more
doaj +1 more source
JEADV Clinical Practice, EarlyView.ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni +3 more
wiley +1 more source
BMC OphthalmologyClinical relevance In recent years, the concept of hyperopia reserve, defined as a physiological hyperopic refractive status preceding emmetropia and myopia, has gained increasing attention. and raised awareness about myopia.
Jianing Pu +12 more
doaj +1 more source
Comparison of Refractive Measures of Term and Preterm Children Aged One Year Old
Southern Clinics of Istanbul Eurasia, 2020 INTRODUCTION[|]To compare the refractive measures of preterm and full-term children aged 1 year old.[¤]METHODS[|]Fifty two eyes of 26 preterm children and 44 eyes of 22 term children were included in this study.
Ayşin Tuba Kaplan +3 more
doaj +1 more source
The Power to Change: Conceptualising Systemic Change Towards Sustainability in Business Networks
Sustainable Development, EarlyView.ABSTRACT Sustainability advancement requires systemic changes in business networks of interconnected firms. Given the rapid need and complexity of instigating such transitions, the power to influence the networked actors emerges as a central concept.
Eini Haaja +4 more
wiley +1 more source
The impacts of high refractive errors on self‐reported visual function and visual concern
Acta Ophthalmologica, EarlyView.Abstract Purpose To examine the association between refractive errors and self‐reported visual function and visual concern, considering self‐perceived present eyesight, concerns about vision, accomplishing less and limitations in daily activities in an eye‐healthy cohort.
Jens Riis Møller +9 more
wiley +1 more source
Acta Medica Iranica, 2022 Aim: To report the five-year results of Trans-epithelial Photorefractive Keratectomy (TPRK) in treating all kinds of refractive errors. Methods: In this retrospective cohort study, we quantitatively compared the clinical findings and assessment of ...
Hamidreza Hasani +3 more
doaj