Results 101 to 110 of about 11,635 (210)

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source

Therapeutic Algorithm for Congenital Ptosis Repair with Levator Resection and Frontalis Suspension : Results and Literature Review

, 2017
Background: Several treatments have been described for the treatment of congenital ptosis, but there are few studies that analyze the effectiveness of a therapeutic approach rather than a single technique.
Luca Vaienti, F. Wilhelm Baruffaldi Preis, E. Piozzi, Elena Piozzi, L. Vaienti, Franz Wilhelm Baruffaldi Preis, R. Gazzola, Riccardo Gazzola   +7 more
core   +1 more source

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Background Agrin‐congenital myasthenic syndrome (AGRN‐CMS) is a rare, heterogeneous genetic disorder of the neuromuscular transmission that can present from infancy to adulthood. The clinical phenotype includes distal weakness mimicking distal myopathies.
Mariana Manoel Oku, Zhiyv Niu, Duygu Selcen, William J. Litchy, Margherita Milone   +4 more
wiley   +1 more source

Surgical management of hypotropia in congenital fibrosis of extraocular muscles (CFEOM) presented by pseudoptosis

Clinical Ophthalmology, 2012
Hatem A Tawfik,1 Mohammad A Rashad21Oculoplastic Service, 2Pediatric Ophthalmology Service, Ophthalmology Department, Ain Shams University, Cairo, EgyptPurpose: To describe the demographics, characteristics, management pitfalls, and outcomes of ...
Tawfik HA, Rashad MA
doaj  

Long term risk of recurrence of ptosis repair: implications for surgical counseling and follow-up

Frontiers in Ophthalmology
PurposeTo evaluate recurrence rates after surgical correction of ptosis in adults, with emphasis on differences between aponeurotic and non-aponeurotic etiologies, and to identify predictors of recurrence.MethodsThis retrospective, single-center cohort ...
Dana Cohen, Maria Laura Passaro, Maria Laura Passaro, Elena Grachova, Alessia Riccardo, Adriana Iuliano, Vittoria Lanni, Francesco Matarazzo, Francesco Matarazzo, Antonella D’Aponte, Ciro Costagliola, Diego Strianese   +11 more
doaj   +1 more source

Medication Errors in Perioperative Nursing: A Scoping Review

Journal of Clinical Nursing, Volume 35, Issue 7, Page 2921-2933, July 2026.
ABSTRACT Aim To map the current literature on the characteristics of nurse‐related medication errors in perioperative healthcare settings. Design A scoping review. Methods This scoping review used the five‐stage framework developed by Arksey and O'Malley (2005).
Chamila Wickramasinghe, Sharon Latimer, Brigid M. Gillespie   +2 more
wiley   +1 more source

The Effect of Clinical Parameters on the Visual Acuity Levels in Patients with Unilateral Congenital Ptosis

, 2006
Purpose: To evaluate the possible asssociations between levator function and the degree of ptosis with the visual acuity levels of patients with unilateral congenital ...
MOCAN, MEHMET CEM, ERDENER, UĞUR, Durukan, Ihfan   +2 more
core  

Treatment of Congenital Myogenic Ptosis with Frontalis Suspension Surgery

Jurnal Kedokteran dan Kesehatan, 2016
Ptosis repair is a challenging oculoplastic surgical procedure that requires correct diagnosis, thoughtful planning, thorough understanding of eyelid anatomy, experience, and good surgical technique.
Shaelva Lassa Sabatini, Riani Erna
doaj  

The Possibility of Marcus Gunn Jaw-winking and Monocular Elevation Deficiency Being the Same Disease

Journal of Pediatrics Review, 2020
Introduction: Marcus Gunn Jaw-Winking (MGJW) synkinesis is characterized by drooping eyelid and retraction with jaw movement. MGJW is usually seen alone, although familial cases have been documented.
Sogand Shahabinia, Reza Jafari, Somayeh Rostami Maskopaii   +2 more
doaj  

Frontalis Sling Operation Using Silicone Rod Compared with Preserved Fascia Lata for Congenital Ptosis A Three-Year Follow-up Study

, 2009
Purpose: To evaluate the 3-year results of frontalis sling operation using a silicone rod compared with preserved fascia lata for congenital ptosis. Design: Retrospective, nonrandomized, comparative, interventional case series.
Khwarg, Sang In, Kim, Nam Ju, Lee, Min Joung, Sung, Mi Sun, Oh, Joo Youn, Choung, Ho-Kyung   +5 more
core   +1 more source