Integration of chromosomal microarray into paediatric clinical care in Hong Kong

Poster Presentation 9BACKGROUND AND AIMS: Chromosomal microarray (CMA) has emerged as a major tool to identify unbalanced chromosomal aberrations in children and is recommended as the first tiered investigation for intellectual disability, autism spectrum disorders and multiple congenital anomalies. While the clinical interpretation and genetic counseling remain as ongoing challenge, data about potential downstream benefits and harms of CMA is lacking, especially in paediatric ...postprin

Copy number variation in Hong Kong patients with autism spectrum disorder

Oral Free Paper Session: Oral Presentation 6 [best oral presentation]BACKGROUND AND AIMS: When offering chromosomal microarray for patients with autism spectrum disorder (ASD), as according to international standards, copy number variations of uncertain significance (CNV VUS) are frequently identified, which leads to challenges in genetic counselling. We aim to study the CNV findings in children with ASD in Hong Kong, and to gather information for reclassification of recurrent CNV VUS. METHODS: ASD patients from the Department of Paediatrics and Adolescent Medicine QMH/HKU were recruited if their Array Comparative Genomic Hybridization (aCGH) were done anytime from January 2011 to August 2014 in Prenatal Diagnostic Laboratory, Tsan Yuk Hospital. Diagnosis of ASD was made by developmental paediatricians and clinical psychologists using the criteria from Diagnostic and Statistical Manual of Mental Disorders, Fourth or Fifth Edition. NimbleGen CGX-135k oligonucleotide array and Agilent CGX 60k oligonucleotide array were used. Information was summarised from the literature and existing databases to re-classify CNV VUS occurring in our ASD cohort. RESULTS: Among 288 patients with ASD in our cohort, we identified 5 patients with pathogenic CNV (1.74%) and 5 patients with likely pathogenic CNV (1.74%). Among all the CNV VUS, one variant overlapping DPP10 (hg[19] chr2:116,534,689-116,672,358) was recurrently found in Chinese individuals. The frequency of this variant in our ASD cohort was 0.35% (1 in 288), and 0.96% (9 in 935) in our controls. (P=0.467, two-tailed Fisher’s exact test). Similar CNVs were suggested to be ASD-related in previous studies recruiting mainly Caucasians. However, there were Chinese individuals with typical development possessing similar CNVs identified in independent sources (9 from our internal database, 1 from Singapore Genome Variation Project, 24 from The Singapore Prospective Study Program). CONCLUSIONS: Our study explored the CNV findings in Hong Kong paediatric ASD patients. The CNV overlapping DPP10 may be a Chinese-related copy-number variation in Hong Kong Chinese, and we reclassified it to be likely benign in our locality. Our result emphasized the need to account for ethnicity to give the most precise interpretation of aCGH data.published_or_final_versio

Panduan SIM-PKB registrasi akun guru : untuk guru

Panduan ini berisi tentang cara registrasi akun guru pada Program Guru Belajar Guru Berbagi yang diselenggarakan oleh Direktorat Jenderal Guru dan Tenaga Kependidikan, Kementerian Pendidikan dan Kebudayaan

Effects of advancing open face tunneling on an existing loaded pile

A three-dimensional, elasto-plastic, coupled-consolidation numerical analysis was conducted to investigate the effects of an advancing open face tunnel excavation on an existing, loaded pile. Based on the ground conditions, geometry, and tunnel construction method simulated, a significant zone of influence can be identified one tunnel diameter ahead and one behind the tunnel excavation face. Within this zone of influence, the settlement of the pile is greater than the ground settlement due to the plastic yielding at the pile toe. A computed ground sur-face settlement profile simulated by a normal Gaussian distribution does not accurately reflect pile head settlement and a significant nonlinear distribution of subsurface settlement with depth is induced by tunnel excavation. Under plane strain conditions. other empirical and analytical methods predicted similar trends in the subsurface settlements, but gave larger magnitudes of subsurface settlements. The open face tunnel excavation induces complex distributions of relative subsurface settlements and both positive and negative side shear stresses along the pile. Within the zone of influence of the tunnel excavation, excess positive and negative pore-water pressures are generated at the pile head and pile toe, respectively. At the pile toe, the pore-water pressure was reduced to 40\% of its initial hydrostatic value. At 10 days after the tunnel face passed the pile, the excess pore-water pressures at the pile recovered to within 20\% of initial hydrostatic values. Due to the additional settlement of the pile that occurred during tunneling, the soil resistance factor of safety for the pile can be regarded as decreasing from 3.0 to 1.5, according to a displacement-based failure load criterion. The tunnel excavation did not significantly affect the existing bending moment and the axial structural load distribution within the pile

Pameran

Pameran 201

A three-dimensional parametric study of the use of soil nails for stabilising tunnel faces

Applying an effective nailing system at a tunnel heading, not only improves the stability of the tunnel heading and limits deformation at the tunnel face, but it also reduces volume loss during excavation and hence reduces ground surface settlement. The effectiveness of a soil nail system is affected by many factors such as the diameter and stiffness of the nails. In this paper, a systematic parametric study was conducted to study the axial rigidity of a nail, E(n)A(n), for improving the stability of tunnel headings and reducing ground movements in stiff clay. The parametric study involved a series of three-dimensional clasto-plastic coupled-consolidation finite element analyses. The stability of the tunnel face is improved with increasing E(n)A(n). For a given nail density applied at the tunnel face, an optimum axial rigidity of the nail (E(n)A(n))(opt) can be identified. The efficiency of the nailing system diminishes when (E(n)A(n))(opt) is reached. The use of a soil nailing system reduces the magnitude of stress relief at the tunnel heading during excavation. Thus, this reduction of stress relief minimises the amount of soil yielding and excess pore water pressure generated in the soil around the tunnel heading. (C) 2002 Elsevier Science Ltd. All rights reserved

Clinical Quiz - What is the Diagnosis?

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