Results 61 to 70 of about 41,079 (340)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Traumatic cataract presenting with unilateral nasal hemianopsia

open access: yes, 1999
A 56-year-old man developed a nasal field defect in his left eye 3 months after a traumatic accident. An examination showed a posterior subcapsular cataract in the left eye with no neurologic deficits.
Karp, Carol L   +3 more
core   +1 more source

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

open access: yesAmerican 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   +16 more
wiley   +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

open access: yesAmerican 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   +13 more
wiley   +1 more source

Aniridia Associated with Lens Coloboma and Secondary Glaucoma Treated with Transcorneal Argon Laser Ciliary Body Photocoagulation: A Case Report

open access: yesCase Reports in Ophthalmology, 2013
Purpose: The aim of this study is to describe the management of cataract and refractory glaucoma in a case of congenital aniridia (AN)-1. Methods: In an 18-year-old female patient affected by congenital AN, bilateral coloboma of the zonula and lens ...
Sandro Sbordone   +5 more
doaj   +1 more source

A COMPARATIVE STUDY OF PRE AND POST-OPERATIVE REFRACTIVE ERRORS IN CATARACT SURGERY – PHACO & SICS.

open access: yesStudent's Journal of Health Research Africa, 2023
Background:  The method of phacoemulsification for cataract surgery is preferred by surgeons, but it is not an affordable method. On the other hand, small-incision cataract surgery performed manually is economically affordable.
Dr. Santosh Kumar Singh   +1 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

open access: yesAnatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci   +4 more
wiley   +1 more source

The First Cataract Extraction Operations

open access: yes, 2022
.The first written record of Cataract surgery dates back to 2250 BC, when King Hammurabi of Babylon created a law regarding the outcome of Cataract surgery.
Gahramanov, H. (Hafiz)   +3 more
core  

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