Results 81 to 90 of about 47,593 (212)

CRB1‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background The lack of validated and sensitive clinical endpoints remains a major challenge in the design of gene therapy trials for inherited retinal dystrophies (IRDs). This prospective longitudinal cohort study describes the natural disease progression of IRDs caused by pathogenic mutations in the Crumbs homologue 1 (CRB1) gene, and ...
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Jos Twisk, Nicoline E. Schalij‐Delfos, Caroline C. W. Klaver, Ralph J. Florijn, Jacoline B. ten Brink, Magda A. Smoor, L. Ingeborgh van den Born, Carel B. Hoyng, Alberta A. H. J. Thiadens, Camiel J. F. Boon   +15 more
wiley   +1 more source

Is There a Difference in Occurrence of Complications Between Adults With Hemoglobin SS and Hemoglobin SC Disease: An Extended Systematic Review

European Journal of Haematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is characterized by both acute and chronic complications. The clinical manifestation of these complications differs between genotypes. Given the large amount of research already published, this systematic review aims to offer a complete overview of types of sickle cell complications between adults in the most common ...
Martijn van der Meer, Kim Velsink, Wing H. Tong, Jan W. Schoones   +3 more
wiley   +1 more source

An algorithm for managing surgical patients with acute retinal necrosis

Российский офтальмологический журнал, 2018
Purpose. To increase the efficiency of surgical treatment and develop an algorithm for managing patients with the consequences of acute retinal necrosis (ARN).Material and methods. The study included 35 patients (42 eyes) aged 18 to 74 with acute retinal
V. V. Neroev, P. A. Ilyukhin, V. E. Tankovsky, R. A. Fedotov   +3 more
doaj   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

Retinal neovascularization and its regression on doxycycline in epidemic retinitis

Indian Journal of Ophthalmology, 2020
Subhakar Reddy, Komal Agarwal, Hitesh Agarwal, Amelia Janis   +3 more
doaj   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Case report: CMV retinitis following local and systemic immunosuppression

Frontiers in Ophthalmology
We report the case of a 71-year-old man who presented 2 years following renal transplantation with diffuse, unilateral cytomegalovirus retinitis five weeks after receiving an intravitreal dexamethasone implant device for the management of central retinal
Bryant A. Menke, William Wagner, Helen Song, William Thomas, Natalia E. Castillo Almeida, Christopher D. Conrady, Steven Yeh, Steven Yeh, Steven Yeh   +8 more
doaj   +1 more source

Rare Variants in PFIC‐Related Genes Among Adults With Intrahepatic Cholestasis

Hepatology Research, EarlyView.
ABSTRACT Aim Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)‐related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear.
Shunji Hirose, Kota Tsuruya, Yusuke Mishima, Yoshitaka Arase, Koichi Shiraishi, Vu Thi Hao, Satsuki Ieda, Masayuki Tanaka, Sanae Isaki, Tatehiro Kagawa   +9 more
wiley   +1 more source

Congenital cytomegalovirus retinitis of prematurity: a case report and literature review

Frontiers in Pediatrics
IntroductionOphthalmopathy induced by cytomegalovirus (CMV) infection is most common in immunodeficient patients without other congenital infections. This paper reports a clinical case of retinitis due to congenital CMV infection in a preterm infant and ...
Yihui Li, Wenqiang Sun, Xinyun Jin, Lei Zhao, Xueping Zhu   +4 more
doaj   +1 more source

Ocular Manifestations of Infectious Salmon Anaemia Virus Infection in Atlantic Salmon (Salmo salar)

Journal of Fish Diseases, EarlyView.
ABSTRACT Eyes are essential sensory organs needed by teleost Atlantic salmon for high visual acuity and survival in both the wild and in aquaculture settings. In this work, we assessed the ocular manifestations of Infectious Salmon Anaemia Virus (ISAV) infection in Atlantic salmon by a cohabitation‐mediated infection assay and histological and ...
Emily Mahon, Rebecca R. Kwabiah, Hélène Paradis, Manuel A. Soto‐Dávila, Sathees Duglas, Raja Ram Gurung, Thurka Paramanathan, Ignacio Vasquez, Shams Al‐Badoosh, John Law, Javier Santander, Mark D. Fast, Robert L. Gendron   +12 more
wiley   +1 more source