Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia

2013 ◽  
pp. n/a-n/a ◽  
Author(s):  
Jonathan B Ruddle ◽  
Sandra E Staffieri ◽  
Jonathan G Crowston ◽  
Justin C Sherwin ◽  
David A Mackey
2010 ◽  
Vol 88 (1) ◽  
pp. 53-59 ◽  
Author(s):  
Caitriona Kirwan ◽  
Bernadette Lanigan ◽  
Michael O’Keefe

2021 ◽  
Vol 69 (4) ◽  
pp. 932
Author(s):  
Ramesh Kekunnaya ◽  
VivekMahendrapratap Singh ◽  
Akshay Badakere ◽  
Preeti Patil-Chhablani

2020 ◽  
Vol 11 (5-6) ◽  
pp. 302-308
Author(s):  
Hande Taylan Sekeroglu ◽  
Beren Karaosmanoglu ◽  
Ekim Z. Taskiran ◽  
Pelin O. Simsek Kiper ◽  
Mehmet Alikasifoglu ◽  
...  

Congenital cataract, which refers to lenticular opacity diagnosed at birth or more commonly during the first year of life, is one of the leading causes of childhood blindness. Molecular understanding of the disease pathogenesis has evolved thanks to many studies based on modern technologies. In this study, we aimed to identify and discuss the molecular etiology of nonsyndromic or nonmetabolic bilateral congenital cataract by whole-exome sequencing (WES). Patients with bilateral congenital cataract presumed to be isolated after metabolic and genetic evaluation were enrolled in the study. All patients underwent detailed ophthalmological examination and bilateral cataract surgery. DNA samples of the probands, parents, and available affected family members were analyzed by WES. Variants were validated and confirmed by Sanger sequencing in all probands and in available affected family members. A total of 4 patients (3 girls and 1 boy) were recruited. Two patients had nuclear, 1 patient had total, and 1 patient had combined lamellar and sutural cataract. One family had consanguinity. A heterozygous c.215+1G&#x3e;A mutation in <i>CRYBA1</i>, heterozygous c.432C&#x3e;G (p.Tyr144Ter) mutation in <i>CRYGC</i>, heterozygous c.70A&#x3e;C (p.Pro24Thr) mutation in <i>CRYGD</i>, and a heterozygous c.466G&#x3e;A (p.Gly156Arg) mutation in <i>CRYBB3</i> were detected. All these mutations were confirmed by Sanger sequencing in selected affected individuals. The current study identified all causative mutations of congenital cataract in the crystalline genes. The results confirmed that WES is a very useful tool in the investigation of the diseases with heterogeneous genetic background.


2009 ◽  
Vol 18 (1) ◽  
pp. 19-24
Author(s):  
Maggie-Lee Huckabee

Abstract Research exists that evaluates the mechanics of swallowing respiratory coordination in healthy children and adults as well and individuals with swallowing impairment. The research program summarized in this article represents a systematic examination of swallowing respiratory coordination across the lifespan as a means of behaviorally investigating mechanisms of cortical modulation. Using time-locked recordings of submental surface electromyography, nasal airflow, and thyroid acoustics, three conditions of swallowing were evaluated in 20 adults in a single session and 10 infants in 10 sessions across the first year of life. The three swallowing conditions were selected to represent a continuum of volitional through nonvolitional swallowing control on the basis of a decreasing level of cortical activation. Our primary finding is that, across the lifespan, brainstem control strongly dictates the duration of swallowing apnea and is heavily involved in organizing the integration of swallowing and respiration, even in very early infancy. However, there is evidence that cortical modulation increases across the first 12 months of life to approximate more adult-like patterns of behavior. This modulation influences primarily conditions of volitional swallowing; sleep and naïve swallows appear to not be easily adapted by cortical regulation. Thus, it is attention, not arousal that engages cortical mechanisms.


2001 ◽  
Vol 120 (5) ◽  
pp. A209-A209
Author(s):  
G RIEZZO ◽  
R CASTELLANA ◽  
T DEBELLIS ◽  
F LAFORGIA ◽  
F INDRIO ◽  
...  

2013 ◽  
Author(s):  
Julie Lawrence ◽  
Andrew Gray ◽  
Rachael Taylor ◽  
Barry Taylor

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