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  • ISSN: 2334-1823
    Early Online
    Volume 4, Issue 2
    Review Article
    Boomiraj Hemadevi, Namperumalsamy V. Prajna, Muthiah Srinivasan, Periasamy Sundaresan*
    The corneal endothelium serves primarily in maintaining stromal deturgescence which is essential for transparency of cornea. Any disturbance in its function leads to stromal edema which in turn reduces vision. The genetically heterogeneous nature of four different kinds of corneal endothelial dystrophies represents the involvement of diverse set of genes. Until now, only few genes were identified for a subclass of corneal endothelial dystrophy. Therefore, in this review, elucidated genes and their function involved in different corneal endothelial dystrophies were described to understand the pathogenesis of the disorder.
    Research Article
    Susan van den Berg, Belinda Barton, Kelsie Boulton, and Melanie Porter*
    Children with velocardiofacial syndrome (VCFS) frequently display mathematics difficulties. Research into the specific mathematical strengths and weaknesses in this population is relatively limited. Previous studies into mathematical abilities in VCFS have generally not included an IQ-matched control group. The aim of this study was to assess mathematical ability in children with VCFS, within a cognitive neuropsychological framework, and to compare their performance to a chronologically age- and IQ-matched control group. Twenty-three children with VCFS (aged 8 to 14 years) were administered a range of tasks designed to assess components of McCloskey, Caramazza and Basiliís (1985) cognitive neuropsychological model of mathematics. Children with VCFS did not differ from controls in general mathematical ability, nor did the groups differ on any of the more specific cognitive neuropsychological tasks designed to assess the McCloskey model of mathematics. Results indicate that the weakness in mathematics well-documented in children with VCFS may perhaps reflect overall lowered IQ and associated cognitive dysfunction.
    Research Article
    Danielle Henry, Marie Lee, Deanna Almanza, Weihong Sun, David Boulware, and Christine Laronga*
    Background: With increasing variant of unknown significance (VUS) genetic testing (GT) results, we evaluated the significance on surgical management for breast cancer patients.
    Methods: Patients from an IRB-approved database recruited from November 2000 to January 2017 with a VUS and history of breast cancer were identified. Self-reported questionnaire data was collected. Groups were compared using Chi-square, Fisherís Exact or Kruskal-Wallis test by surgical type and timing of GT.
    Review Article
    Jiubin Zhang, and Shujuan Jiang*
    Nail patella syndrome (NPS) is a rare autosomal dominant hereditary disease caused by mutations in LMX1B gene, which characterized by nail malformations, patellar hypoplasia or absence. The development of technology for gene diagnosis provided conditions for our better understanding its pathogenesis. It is reported that mutation in LMX1B gene can cause NPS with an autosomal recessive inheritance. However, according to our experience, it is not rigorous to make such a conclusion without genome-wide sequencing or MLPA. By this article, we hope to make more researchers realize the importance of whole genome sequencing and MLPA technology in the diagnosis of nail patella syndrome, so as to guide genetic counseling and prenatal diagnosis more accurately.
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