Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady

We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.published_or_final_versio

A data-mining approach for multiple structural alignment of proteins

Comparing the 3D structures of proteins is an important but computationally hard problem in bioinformatics. In this paper, we propose studying the problem when much less information or assumptions are available. We model the structural alignment of proteins as a combinatorial problem. In the problem, each protein is simply a set of points in the 3D space, without sequence order information, and the objective is to discover all large enough alignments for any subset of the input. We propose a data-mining approach for this problem. We first perform geometric hashing of the structures such that points with similar locations in the 3D space are hashed into the same bin in the hash table. The novelty is that we consider each bin as a coincidence group and mine for frequent patterns, which is a well-studied technique in data mining. We observe that these frequent patterns are already potentially large alignments. Then a simple heuristic is used to extend the alignments if possible. We implemented the algorithm and tested it using real protein structures. The results were compared with existing tools. They showed that the algorithm is capable of finding conserved substructures that do not preserve sequence order, especially those existing in protein interfaces. The algorithm can also identify conserved substructures of functionally similar structures within a mixture with dissimilar ones. The running time of the program was smaller or comparable to that of the existing tools

An Antibody-Based Leukocyte-Capture Microarray for the Diagnosis of Systemic Lupus Erythematosus

The diagnosis of Systemic Lupus Erythematosus (SLE) is challenging due to its heterogeneous clinical presentation and the lack of robust biomarkers to distinguish it from other autoimmune diseases. Further, currently used laboratory tests do not readily distinguish active and inactive disease. Several groups have attempted to apply emerging high throughput profiling technologies to diagnose and monitor SLE. Despite showing promise, many are expensive and technically challenging for routine clinical use. The goal of this work is to develop a better diagnostic and monitoring tool for SLE. We report a highly customisable antibody microarray that consists of a duplicate arrangement of 82 antibodies directed against surface antigens on peripheral blood mononuclear cells (PMBCs). This high-throughput array was used to profile SLE patients (n = 60) with varying disease activity, compared to healthy controls (n = 24), patients with rheumatoid arthritis (n = 25), and other autoimmune diseases (n = 28). We used a computational algorithm to calculate a score from the entire microarray profile and correlated it with SLE disease activity. Our results demonstrate that leukocyte-capture microarray profiles can readily distinguish active SLE patients from healthy controls (AUROC = 0.84). When combined with the standard laboratory tests (serum anti-dsDNA, complements C3 and C4), the microarrays provide significantly increased discrimination. The antibody microarrays can be enhanced by the addition of other markers for potential application to the diagnosis and stratification of SLE, paving the way for the customised and accurate diagnosis and monitoring of SLE

Associations between child maltreatment and adolescents’ health-related quality of life and emotional and social problems in low-income families, and the moderating role of social support

This study aimed to examine the associations between different types of child maltreatment and health-related quality of life (HRQoL) and emotional and social problems in adolescents, and to examine the moderating effect of social support on those associations. A cross-sectional survey was conducted between January and June 2016 in Hong Kong. The sample comprised 351 parent and adolescent dyads from low-income families. The parents reported on child maltreatment (physical abuse, psychological aggression, and neglect), and the adolescents reported on their HRQoL, emotional problems, and social problems. The adolescents’ perceived social support was included as a potential moderator. Results of the study show that child physical abuse was strongly associated with emotional and social problems (B = 0.91-1.45, p < .05). Lower overall HRQoL was associated with psychological aggression (B = −3.96, p < .05) and neglect (B = −4.14, p < .05). Physical functioning was affected by psychological aggression (B = −3.16, p < .05), and emotional functioning was affected by neglect (B = −4.82, p < .05). Social functioning was impacted by all three types of maltreatment (B = −9.16 to −5.26, p < .05). This study extends previous literature by showing the varying effects of different types of child maltreatment on children’s health in the context of low-income families. The findings of this study also support that peer social support may buffer the effects of child physical abuse on adolescents’ emotional and social problems

Associations between child maltreatment and adolescents’ health-related quality of life and emotional and social problems in low-income families, and the moderating role of social support

This study aimed to examine the associations between different types of child maltreatment and health-related quality of life (HRQoL) and emotional and social problems in adolescents, and to examine the moderating effect of social support on those associations. A cross-sectional survey was conducted between January and June 2016 in Hong Kong. The sample comprised 351 parent and adolescent dyads from low-income families. The parents reported on child maltreatment (physical abuse, psychological aggression, and neglect), and the adolescents reported on their HRQoL, emotional problems, and social problems. The adolescents’ perceived social support was included as a potential moderator. Results of the study show that child physical abuse was strongly associated with emotional and social problems (B = 0.91-1.45, p < .05). Lower overall HRQoL was associated with psychological aggression (B = −3.96, p < .05) and neglect (B = −4.14, p < .05). Physical functioning was affected by psychological aggression (B = −3.16, p < .05), and emotional functioning was affected by neglect (B = −4.82, p < .05). Social functioning was impacted by all three types of maltreatment (B = −9.16 to −5.26, p < .05). This study extends previous literature by showing the varying effects of different types of child maltreatment on children’s health in the context of low-income families. The findings of this study also support that peer social support may buffer the effects of child physical abuse on adolescents’ emotional and social problems

Age composition and survival of public housing stock in Hong Kong

Emerging notably in more developed regions, building stock ageing which is characterised by shrinking new completions and falling “mortality” has been posing challenges to various stakeholders in built environment. To find way out of this transition, we need to know how long buildings will last these days and the factors leading to their “mortality”. By using data from 1950s till to date, a comprehensive investigation is conducted to analyse the age composition and life expectancy of public housing stock in Hong Kong. What comes after are survival analysis and empirical analysis of those demolished to identify the key factors leading to demolition. Presented in this paper are the preliminary findings as well as the research agenda on the theme to model age composition and survival of both private and public building stocks in Hong Kong and other similar cities in Asia Pacific Rim such as Adelaide and Singapore, together with research activities to formulate policies for sustainable urban management

Global MLST of Salmonella Typhi revisited in post-genomic era: genetic conservation, population structure, and comparative genomics of rare sequence types

Typhoid fever, caused by Salmonella enterica serovar Typhi, remains an important public health burden in Southeast Asia and other endemic countries. Various genotyping methods have been applied to study the genetic variations of this human-restricted pathogen. Multilocus sequence typing (MLST) is one of the widely accepted methods, and recently, there is a growing interest in the re-application of MLST in the post-genomic era. In this study, we provide the global MLST distribution of S. Typhi utilizing both publicly available 1,826 S. Typhi genome sequences in addition to performing conventional MLST on S. Typhi strains isolated from various endemic regions spanning over a century. Our global MLST analysis confirms the predominance of two sequence types (ST1 and ST2) co-existing in the endemic regions. Interestingly, S. Typhi strains with ST8 are currently confined within the African continent. Comparative genomic analyses of ST8 and other rare STs with genomes of ST1/ST2 revealed unique mutations in important virulence genes such as flhB, sipC, and tviD that may explain the variations that differentiate between seemingly successful (widespread) and unsuccessful (poor dissemination) S. Typhi populations. Large scale whole-genome phylogeny demonstrated evidence of phylogeographical structuring and showed that ST8 may have diverged from the earlier ancestral population of ST1 and ST2, which later lost some of its fitness advantages, leading to poor worldwide dissemination. In response to the unprecedented increase in genomic data, this study demonstrates and highlights the utility of large-scale genome-based MLST as a quick and effective approach to narrow the scope of in-depth comparative genomic analysis and consequently provide new insights into the fine scale of pathogen evolution and population structure