Publications by authors named "Amina Al-Yassin"
Article Synopsis
- - Norrie disease, caused by mutations in the NDP gene, leads to congenital blindness and later hearing loss, making it crucial to protect patients' hearing to maintain their quality of life.
- - This study investigated cochlear structure and function in both affected humans and juvenile Ndp-mutant mice, revealing that cochlear vascular issues occur earlier than previously thought, triggering subsequent hearing loss and hair cell death.
- - The findings highlight the importance of early intervention in Norrie disease and establish Ndp-mutant mice as a valuable model for testing new therapies aimed at preventing hearing loss in affected individuals.
Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel's aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c.
View Article and Find Full Text PDFMetaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, brachydactyly, dental anomalies and mild osteoporosis. To date, only one large French Canadian family and a Finnish woman have been reported with the condition. In both, intragenic duplication encompassing exons 3-5 of the RUNX2 gene was identified.
View Article and Find Full Text PDFObjectives: Both general and subspecialty paediatric trainees undertake attachments in highly specialised tertiary hospitals. Trainee feedback suggests that mismatches in expectations between trainees and supervisors and a perceived lack of educational opportunities may lead to trainee dissatisfaction in such settings. With the 'Shape of Training' review (reshaping postgraduate training in the UK to focus on more general themes), this issue is likely to become more apparent.
View Article and Find Full Text PDFObjective: To describe characteristics of young children with arterial ischemic stroke (AIS) and bilateral cerebral arteriopathies.
Methods: Retrospective review of clinical features, course, and outcome. Neuroimaging was analyzed for infarct pattern, cerebrovascular diagnosis (anatomic/Childhood Arterial Ischemic Stroke Standardized Classification and Diagnostic Evaluation [CASCADE] criteria), and disease progression.