Results 81 to 90 of about 8,467 (285)

The long-term surgical outcomes of conjunctival-limbal autograft procedure with or without penetrating keratoplasty in eyes with unilateral limbal stem cell deficiency

, 2020
AIM: The aim of the study is to report the results of conjunctival-limbal autograft (CLAU) transplantation and penetrating keratoplasty (PK) in eyes with limbal stem cell deficiency (LSCD) due to chemical or thermal injury.METHODS: Thirty-one ...
Emre Altinkurt, Ozer, Muhammet Derda, MuhammetDerda Ozer, Nilufer Alparslan, Altınkurt, Emre, Altinkurt, Emre, Alparslan, Nilufer, Ozer, Muhammet   +7 more
core   +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

Study of the ocular findings in Stevens-Johnson syndrome patients from a tertiary ophthalmologic center

, 2009
PURPOSE: To evaluate the epidemiology, possible etiologic factors, complications and treatment of a group of patients with ocular complications secondary to Stevens-Johnson syndrome.
Lima, Jane Palma Galrão, Freitas, Denise de [UNIFESP], Gomes, José Álvaro Pereira [UNIFESP], Cunha, Marcelo [UNIFESP], Franca, Marciel Dourado   +4 more
core   +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

Estudio comparativo de 2 técnicas quirúrgicas para la cirugía del pterigión primario Comparative study of 2 surgical techniques for the operation of primary Pterygium

Revista Cubana de Oftalmología, 2000
Realizamos un estudio comparativo de 2 técnicas quirúrgicas para la cirugía del Pterigión Primario. Nuestra muestra estuvo conformada por 100 pacientes portadores del Pterigión Primario Grado II, que fueron enviados a una consulta creada al efecto, según
Leonor R Díaz Alfonso, Elvira Machado Héctor, Hernán García Álvarez, Juan Alegre Núñez   +3 more
doaj  

Updated Experience of

, 2021
BACKGROUND: Despite safety communications from the Food and Drug Administration (FDA) regarding the outbreak of METHODS: We retrospectively reviewed confirmed cases of MCI that were managed at Mayo Clinic sites (Arizona, Florida, and Minnesota) from 09 ...
Bennett, Courtney E, DO, DeSimone, Daniel C, DeSimone, Christopher V, Tan, Nicholas Y, Tarabochia, Alex D, Wilson, John W, Abu Saleh, Omar M, Bagameri, Gabor   +7 more
core  

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

When trabeculectomy fails

Community Eye Health Journal, 2012
The patient needed the trabeculectomy and you have done a great surgical job, but the pressure is now above the pre-operative level and you are feeling a failure. What are you going to do?
Ian Murdoch
doaj  

Chapter 31 - Ophthalmology and Otolaryngology

, 2023
Eye and ear procedures constitute a significant proportion of all surgeries performed worldwide. Most are accomplished on an outpatient basis, with more extensive and complex procedures conducted in a hospital setting.
Palte, Howard D., Gayer, Steven
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source