Results 91 to 100 of about 175,535 (344)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Prevalence, causes of blindness, visual impairment and cataract surgical services in Sindhudurg district on the western coastal strip of India

Indian Journal of Ophthalmology, 2014
Background : Konkan coast of India is geographically distinct and its pattern of blindness has never been mapped. Aim : To study the prevalence and causes of blindness and cataract surgical services in Sindhudurg district of West Coast.
Shailbala Patil, Parikshit Gogate, Siddharth Vora, Sachin Ainapure, Ramkrishna N Hingane, Anil N Kulkarni, B R Shammanna   +6 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Aggressive posterior retinopathy of prematurity in infants ≥1500 g birth weight

Indian Journal of Ophthalmology, 2014
In this retrospective case series, we report the spectrum and outcomes of aggressive posterior retinopathy of prematurity (APROP) in infants ≥1500 g birth weight. Twenty-nine eyes of 15 infants are included.
Gaurav Sanghi, Mangat R Dogra, Deeksha Katoch, Amod Gupta   +3 more
doaj   +1 more source

Cataract surgery and age-related cognitive decline: A 13-year follow-up of the English Longitudinal Study of Ageing. [PDF]

PLoS ONE, 2018
BACKGROUND:Visual impairment has been associated with lower cognitive ability among older adults, yet little is known about whether improving visual function with cataract surgery would be associated with slower cognitive decline.
Asri Maharani, Piers Dawes, James Nazroo, Gindo Tampubolon, Neil Pendleton, SENSE-Cog WP1 group   +5 more
doaj   +1 more source

Treatment of congenital cataract [PDF]

British Journal of Ophthalmology, 2004
It may all come down to timing The visual prognosis for children with congenital cataracts has improved dramatically since it was first recognised that cataract surgery during infancy is critical for a good visual outcome1,2; however, the optimal time to perform cataract surgery in a child with a congenital cataract is still in question.
openaire   +1 more source

Roles of TGFβ and FGF signals during growth and differentiation of mouse lens epithelial cell in vitro. [PDF]

, 2017
Transforming growth factor β (TGFβ) and fibroblast growth factor (FGF) signaling pathways play important roles in the proliferation and differentiation of lens epithelial cells (LECs) during development.
Gong, Xiaohua, Li, Song, Liu, Kelsey, Wang, Dong, Wang, Eddie, Xia, Chun-Hong   +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

An epidemiological assessment of lens opacifications that impaired vision in patients injected with radium-224 [PDF]

, 1988
The incidence of lens opacifications that impaired vision (cataract) was analyzed among 831 patients who were injected with known dosages of 224Ra in Germany shortly after World War II.
Chmelevsky, D., Kellerer, Albrecht M., Mays, C. W., Spiess, H., Stefani, F.-H.   +4 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source