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Sudden arrhythmia death syndrome (SADS) accounts for about 30% of causes of sudden cardiac death (SCD) in young people. In Hong Kong, there are scarce data on SADS and a lack of experience in molecular autopsy. We aimed to investigate the value of molecular autopsy techniques for detecting SADS in an East Asian population. This was a two-part study. First, we conducted a retrospective 5-year review of autopsies performed in public mortuaries on young SCD victims. Second, we conducted a prospective 2-year study combining conventional autopsy investigations, molecular autopsy, and cardiac evaluation of the first-degree relatives of SCD victims. A panel of 35 genes implicated in SADS was analysed by next-generation sequencing. There were 289 SCD victims included in the 5-year review. Coronary artery disease was the major cause of death (35%); 40% were structural heart diseases and 25% were unexplained. These unexplained cases could include SADS-related conditions. In the 2-year prospective study, 21 SCD victims were examined: 10% had arrhythmogenic right ventricular cardiomyopathy, 5% had hypertrophic cardiomyopathy, and 85% had negative autopsy. Genetic analysis showed 29% with positive heterozygous genetic variants; six variants were novel. One third of victims had history of syncope, and 14% had family history of SCD. More than half of the 11 first-degree relatives who underwent genetic testing carried related genetic variants, and 10% had SADS-related clinical features. This pilot feasibility study shows the value of incorporating cardiac evaluation of surviving relatives and next-generation sequencing molecular autopsy into conventional forensic investigations in diagnosing young SCD victims in East Asian populations. The interpretation of genetic variants in the context of SCD is complicated and we recommend its analysis and reporting by qualified pathologists.

This paper reports the effects of structure on the mechanical responses of kaolinite with known and controlled fabric associations. The dynamic properties and strength were assessed by resonant column tests and undrained triaxial compression tests, respectively. The experimental results demonstrate that interparticle forces and associated fabric arrangements influence the volumetric change under isotropic compression. Soils with different structures have individual consolidation lines, and the merging trend is not readily seen under an isotropic confinement up to 250 kPa. The dynamic properties of kaolinite were found to be intimately related to the soil structure. Stronger interparticle forces or higher degrees of flocculated structure lead to a greater small-strain shear modulus, G max , and a lower associated damping ratio, D min . The soil structure has no apparent influence on the critical-state friction angle (φϕ′ c = 27.5°), which suggests that the critical stress ratio does not depend on interparticle forces. The undrained shear strength of kaolinite is controlled by its initial packing density rather than by any interparticle attractive forces, and yet the influence of the structure on the effective stress path is obvious.Key words: interparticle forces, shear modulus, damping ratio, stress–strain behavior, undrained shear strength, critical state.

A macrocephalic girl presented with generalised epilepsy due to focal cortical dysplasia. She later developed multiple hamartomatous lesions and was diagnosed to have Cowden syndrome. The diagnosis was confirmed by identification of a novel frameshift mutation in the PTEN gene of the patient.

Hereditary channelopathies and cardiomyopathies are potentially lethal and are clinically and genetically heterogeneous, involving at least 90 genes. Genetic testing can provide an accurate diagnosis, guide treatment, and enable cascade screening. The genetic basis among the Hong Kong Chinese population is largely unknown. We aimed to report on 28 unrelated patients with positive genetic findings detected from January 2006 to December 2015. Sanger sequencing was performed for 28 unrelated patients with a clinical diagnosis of channelopathies or cardiomyopathies, testing for the following genes: and for long QT syndrome; for Brugada syndrome; for catecholaminergic polymorphic ventricular tachycardia; and for hypertrophic cardiomyopathy; for dilated cardiomyopathy; and and for arrhythmogenic right ventricular dysplasia/cardiomyopathy. There were 17 males and 11 females; their mean age at diagnosis was 39 years (range, 1-80 years). The major clinical presentations included syncope, palpitations, and abnormal electrocardiography findings. A family history was present in 13 (46%) patients. There were 26 different heterozygous mutations detected, of which six were novel-two in (NM_198056.2:c.429del and c.2024-11T>A), two in (NM_000256.3:c.906-22G>A and c.2105_2106del), and two in (NM_170707.3:c.73C>A and c.1209_1213dup). We have characterised the genetic heterogeneity in channelopathies and cardiomyopathies among Hong Kong Chinese patients in a 10-year case series. Correct interpretation of genetic findings is difficult and requires expertise and experience. Caution regarding issues of non-penetrance, variable expressivity, phenotype-genotype correlation, susceptibility risk, and digenic inheritance is necessary for genetic counselling and cascade screening.

Tumor-derived DNA can be found in the plasma of cancer patients. In this study, we explored the use of shotgun massively parallel sequencing (MPS) of plasma DNA from cancer patients to scan a cancer genome noninvasively. Four hepatocellular carcinoma patients and a patient with synchronous breast and ovarian cancers were recruited. DNA was extracted from the tumor tissues, and the preoperative and postoperative plasma samples of these patients were analyzed with shotgun MPS. We achieved the genomewide profiling of copy number aberrations and point mutations in the plasma of the cancer patients. By detecting and quantifying the genomewide aggregated allelic loss and point mutations, we determined the fractional concentrations of tumor-derived DNA in plasma and correlated these values with tumor size and surgical treatment. We also demonstrated the potential utility of this approach for the analysis of complex oncologic scenarios by studying the patient with 2 synchronous cancers. Through the use of multiregional sequencing of tumoral tissues and shotgun sequencing of plasma DNA, we have shown that plasma DNA sequencing is a valuable approach for studying tumoral heterogeneity. Shotgun DNA sequencing of plasma is a potentially powerful tool for cancer detection, monitoring, and research.

This study reviewed the landscape of clinical research conducted by public hospital clinicians in Hong Kong. It also explored whether an association exists between academic productivity and clinical performance. This was a territory-wide retrospective study of peer-reviewed original clinical research conducted by clinicians providing acute medical care at non-university public hospitals between 2016 and 2021. Citations were retrieved from the MEDLINE biomedical literature database. Scientometric analysis was performed by collecting journal-level, article-level, and author-level performance indicators. Clinical performance was assessed using crude mortality rate, inpatient hospitalisation duration, and the number of 30-day unplanned readmissions. In total, 3142 peer-reviewed studies were published, of which 29.3% (n=921) were conducted by non-university hospital public healthcare professionals. The most productive specialty was clinical oncology, with 0.56 articles published per clinician. The overall mean journal impact factor and Eigenfactor score were 2.34 ± 3.72 and 0.01 ± 0.07, respectively. At the article level, the mean total number of citations was 6.33 ± 24.17, the mean Field Citation Ratio was 3.37 ± 2.04, and the mean Relative Citation Ratio (RCR) was 0.82 ± 3.32. A significant negative correlation was observed between crude mortality rate and RCR ( =-0.63; P=0.022). A negative correlation was also identified between 30-day readmissions and RCR ( =-0.72; P=0.006). Clinicians in Hong Kong's public healthcare system are research-active and have achieved a substantial degree of influence in their respective fields. Research performance was correlated with hospital crude mortality rates and 30-day unplanned readmissions.

Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM. The present prospective study involving three regional hospitals was conducted in phases, from 1 October 2012 to 31 August 2014. The 10 steps of the OPathPaed model were evaluated: parental education, consent, sampling, sample dispatch, dried blood spot preparation and testing, reporting, recall and counselling, confirmation test, treatment and monitoring, and cost-benefit analysis. A fully automated online extraction system for dried blood spot analysis was also evaluated. A questionnaire was distributed to 430 health care professionals by convenience sampling. In total, 2440 neonates were recruited for newborn screening; no true-positive cases were found. Completed questionnaires were received from 210 respondents. Health care professionals supported implementation of an expanded newborn screening for IEM. In addition, there is a substantial need of more education for health care professionals. The majority of respondents supported implementing the expanded newborn screening for IEM immediately or within 3 years. The feasibility of OPathPaed model has been confirmed. It is significant and timely that when this pilot study was completed, a government-led initiative to study the feasibility of newborn screening for IEM in the public health care system on a larger scale was announced in the Hong Kong Special Administrative Region Chief Executive Policy Address of 2015.

Self-management after a stroke is a challenge because of multifaceted care needs and complex disabling consequences that cause further hindrance to patient participation. A 13-week stroke patient empowerment intervention (Health Empowerment Intervention for Stroke Self-management [HEISS]) was developed to enhance patients' ability to participate in self-management. To examine the effects of the empowerment intervention on stroke patients' self-efficacy, self-management behavior, and functional recovery. This is a single-blind randomized controlled trial with stroke survivors assigned to either a control group (CG) receiving usual ambulatory rehabilitation care or the HEISS in addition to usual care (intervention group [IG]). Outcome data were collected at baseline (T0), 1 week (T1), 3 months (T2), and 6 months (T3) postintervention. Data were analyzed on the intention-to-treat principle. The generalized estimating equation model was used to assess the differential change of self-efficacy in illness management, self-management behaviors (cognitive symptom management, communication with physician, medication adherence, and self-blood pressure monitoring), and functional recovery (Barthel and Lawton indices) across time points (baseline = T0, 1 week = T1, 3 months = T2, and 6 months = T3 postintervention) between the two groups. A total of 210 (CG =105, IG =105) Hong Kong Chinese stroke survivors (mean age =69 years, 49% women, 72% ischemic stroke, 89% hemiparesis, and 63% tactile sensory deficit) were enrolled in the study. Those in IG reported better self-efficacy in illness management 3-month ( =0.011) and 6-month ( =0.012) postintervention, along with better self-management behaviors at all follow-up time points (all <0.05), apart from medication adherence ( >0.05). Those in IG had significantly better functional recovery (Barthel, all <0.05; Lawton, all <0.001), compared to CG. The overall dropout rate was 16.7%. Patient empowerment intervention (HEISS) may influence self-efficacy in illness management and improve self-management behavior and functional recovery of stroke survivors. Furthermore, the HEISS can be conducted in parallel with existing ambulatory stroke rehabilitation services and provide added value in sustaining stroke self-management and functional improvement in the long term.

In setting up a disease registry for fragility fractures in Hong Kong, we conducted a retrospective systematic study on the management of fragility hip fractures. Patient outcomes were compared with the standards from our orthopaedic working group and those from the British Orthopaedic Association that runs a mature fracture registry in the United Kingdom. Clinical data on fragility hip fracture patients admitted to six acute major hospitals in Hong Kong in 2012 were captured. These included demographics, pre- and post-operative assessments, discharge details, complications, and 1-year follow-up information. Analysis was performed according to the local standards with reference to those from the British Orthopaedic Association. Overall, 91.0% of patients received orthopaedic care within 4 hours of admission and 60.5% received surgery within 48 hours. Preoperative geri-orthopaedic co-management was received by 3.5% of patients and was one of the reasons for the delayed surgery in 22% of patients. Only 22.9% were discharged with medication that would promote bone health. Institutionalisation on discharge significantly increased by 16.2% (P<0.001). Only 35.1% of patients attended out-patient follow-up 1 year following fracture, and mobility had deteriorated in 69.9% compared with the premorbid state. Death occurred in 17.3% of patients within a year of surgery compared with 1.6% mortality rate in a Hong Kong age-matched population. The efficiency and quality of acute care for fragility hip fracture patients was documented. Regular geri-orthopaedic co-management can enhance acute care. Much effort is needed to improve functional recovery, prescription of bone health medications, attendance for follow-up, and to decrease institutionalisation. A Fracture Liaison Service is vital to improve long-term care and prevent secondary fractures.