Explore the vast range of titles available.

Understanding how people process and reflect upon past negative experiences is critical for promoting eudaimonic well-being. This study examined how psychological distance and construal level during autobiographical memory retrieval jointly influence post-recall affect and eudaimonic well-being. Participants retrieved negative autobiographical events initially from a 1st-person perspective and subsequently, on a separate day, from a 3rd-person perspective, thereby increasing psychological distance. During each retrieval, participants elaborated either at a high construal level (reflecting on the event’s broader meaning and life implications) or a low construal level (focusing on contextual details, such as location). After each retrieval, participants evaluated mnemonic characteristics of the recalled events, post-recall affective responses, and current eudaimonic well-being. Baseline measures included depression symptoms, dispositional construal level, and initial eudaimonic well-being. Results showed that high-level construal, compared to low-level construal, enhanced subjective vitality and search for meaning in life, while reduced negative post-recall affect. Shifting from a 1st-person to a 3rd-person perspective decreased emotional intensity and further increased meaning-seeking. Notably, beneficial effects of high construal level on eudaimonic well-being were more pronounced when recalling from the 1st-person (vs. 3rd-person) perspective. These findings offer new insights into Construal Level Theory and offer practical implications for expressive writing and well-being intervention.

Using a megastudy approach, (Tse et al.,  2017   Behavior Research Methods , 49, 1503–1519) established a large-scale repository of lexical variables and lexical decision responses for more than 25,000 traditional Chinese two-character words. In the current study, we expand their database by collecting norms for speeded naming reaction times (RTs) and accuracy rates, and compiling more lexical variables (e.g., phonological consistency and semantic neighborhood size). Following Tse et al.’s procedure, about 33 college-aged native Cantonese speakers in Hong Kong read aloud each word. We conducted item-level regression analyses to test the relative predictive power of orthographic variables (e.g., stroke count), phonological variables (e.g., phonological consistency), and semantic variables (e.g., semantic transparency) in naming performance. We also compared the effects of lexical variables on naming performance and Tse et al.’s lexical decision performance to examine the extent to which effects are task-specific or task-general. Freely accessible to the research community, this resource provides a valuable addition to other influential mega-databases, such as the English Lexicon Project (Balota et al., 2004   Journal of Experimental Psychology: General , 133, 283–316), and furthers our understanding of Chinese word recognition processes.

The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evaluate secondary findings in different ethnicities. However, relevant data are limited in Chinese. Here, with the use of a cohort consisted of 1116 Hong Kong Chinese exome sequencing data, we evaluated the secondary findings in the 59 genes recommended by the American College of Medical Genetics and Genomics. Fifteen unique pathogenic or likely pathogenic variants in 17 individuals were identified, representing a frequency of 1.52% in our cohort. Although 20 individuals harboured pathogenic or likely pathogenic variants in recessive conditions, none carried bi-allelic mutations in the same gene. Our finding was in accordance with the estimation from the American College of Medical Genetics and Genomics that about 1% individuals harbour secondary findings.

Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing point-of-care patient genotype information. Nonetheless, its implementation in the Chinese population is limited by the lack of population-wide data. In this study, secondary analysis of exome sequencing data was conducted to study pharmacogenomics in 1116 Hong Kong Chinese. We aimed to identify the spectrum of actionable pharmacogenetic variants and rare, predicted deleterious variants that are potentially actionable in Hong Kong Chinese, and to estimate the proportion of dispensed drugs that may potentially benefit from genotype-guided prescription. The projected preemptive pharmacogenetic testing prescription impact was evaluated based on the patient prescription data of the public healthcare system in 2019, serving 7.5 million people. Twenty-nine actionable pharmacogenetic variants/ alleles were identified in our cohort. Nearly all (99.6%) subjects carried at least one actionable pharmacogenetic variant, whereas 93.5% of subjects harbored at least one rare deleterious pharmacogenetic variant. Based on the prescription data in 2019, 13.4% of the Hong Kong population was prescribed with drugs with pharmacogenetic clinical practice guideline recommendations. The total expenditure on actionable drugs was 33,520,000 USD, and it was estimated that 8,219,000 USD (24.5%) worth of drugs were prescribed to patients with an implicated actionable phenotype. Secondary use of exome sequencing data for pharmacogenetic analysis is feasible, and preemptive pharmacogenetic testing has the potential to support prescription decisions in the Hong Kong Chinese population.

Summary Objective Early onset drug‐resistant epilepsy is a neurologic disorder in which 2 antiepileptic drugs fail to maintain the seizure‐free status of the patient. Heterogeneous clinical presentations make the diagnosis challenging. We aim to identify the underlying genetic causes of a pediatric cohort with drug‐resistant epilepsy and evaluate whether the findings can provide information on patient management. Methods We include patients with drug‐resistant epilepsy onset before 18 years of age. Singleton clinical chromosomal microarray (CMA) followed by whole exome sequencing (WES) was performed using genomic DNA. In the first‐tier analysis of the exome data, we aimed to identify disease‐causing mutations in 546 genes known to cause, or to be associated with, epilepsy. For negative cases, we proceeded to exome‐wide analysis. Rare coding variants were interrogated for pathogenicity based on the American College of Medical Genetics and Genomics (ACMG) guidelines. Results We recruited 50 patients. We identified 6 pathogenic or likely pathogenic mutations, giving a diagnostic yield of 12%. Mutations were found in 6 different genes: SCN8A, SCN1A, MECP2, CDKL5, DEPDC5, and CHD2. The CDKL5 variant was found to be mosaic. One variant of unknown significance (VUS) in KCNT1 was found in a patient with compatible clinical features. Of note, a reported pathogenic SCN5A mutation known to contribute to Brugada syndrome, was also found in the patient with an SCN1A mutation. Significance Our study suggests that singleton WES is an effective diagnostic tool for drug‐resistant epilepsy. Genetic diagnosis can help to consolidate the clinical diagnosis, to facilitate phenotypic expansion, and to influence treatment and management options for seizure control in our patients. In our study, a significant portion of the genetic findings are known to be associated with an increased risk of sudden unexpected death in epilepsy (SUDEP). These findings could assist with more appropriate management in patients with epilepsy.

Objective To determine the incidence and prevalence of gout in the general population and the utilisation of urate-lowering therapy (ULT) among patients with gout in Hong Kong. Methods A total of 2,741,862 subjects who attended any outpatient clinics or accident and emergency department (with or without hospitalisation) in 2005 and did not die before 2006 were identified from the Clinical Data Analysis and Reporting System (CDARS) of the Hospital Authority in Hong Kong. All subjects were followed until the end of 2016 or death. Demographics, diagnosis of gout, serum urate levels, and ULT prescriptions were retrieved from CDARS. Gout was defined by the diagnosis codes in CDARS. The serum urate levels achieved after prescribing ULT were the means of all serum urate levels measured 6 months after prescriptions. Results were analysed by R version 3.3.3 with package ‘prevalence’ version 0.4.0. Results The crude incidence of gout increased from 113.05/100,000 person-years (PY) in 2006 to 211.62/100,000 PY in 2016. The crude prevalence of gout increased from 1.56% in 2006 to 2.92% in 2016. Only 25.55% of patients with gout were prescribed ULT in 2016. 35.8% of patients treated with ULT were able to achieve the target serum urate level of < 6 mg/dL. Conclusions Population ageing as well as other risk factors contributed to an increase in the incidence and prevalence of gout in Hong Kong. In 2016, the crude prevalence of gout in Hong Kong was comparable to that in many western countries. However, only one in four patients with gout in Hong Kong was prescribed ULT.

To define the metabolic profilerelevant to vascular risks in obstructive sleep apnea (OSA) and therole of leptin resistance in this risk profile. Case control study. Sleep Laboratory, Queen Mary Hospital, University of Hong Kong, China. Thirty OSA subjects were matched with 30 non-OSAsubjects for body mass index (BMI), age, sex, and menopausal status. Neck, waist, and hip girth, skinfold thickness, and fasting serumlevels of lipids, glucose, insulin, and leptin were compared betweenthese two groups. Compared with controlsubjects with a similar BMI but without OSA, the OSA group had asignificantly more adverse vascular risk factor profile, includingdyslipidemia, higher diastolic BP, insulin resistance, and greateradiposity reflected by skinfold thickness. OSA subjects also had highercirculating leptin levels (9.18 ± 4.24 ng/mL vs 6.54 ± 3.81ng/mL, mean ± SD, p = 0.001). Serum leptin levels correlatedpositively with BMI, skinfold thickness, serum cholesterol, low-densitylipoprotein cholesterol, insulin, insulin/glucose ratio, apnea-hypopneaindex, and oxygen desaturation time; multiple stepwise regressionanalysis identified skinfold thickness, waist/hip ratio, serumlow-density lipoprotein cholesterol, and diastolic BP as independentcorrelates, while only serum insulin and diastolic BP were independentcorrelates in OSA subjects. After treatment with nasal continuouspositive airway pressure for 6 months, there was a significant decreasein circulating leptin (p = 0.01) and triglyceride levels (p = 0.02)without change in other parameters. Despite controlling for BMI, OSA subjects showed distinct profiles withclustering of vascular risk factors. Hyperleptinemia was present in the, OSA subjects, but it can be normalized by treatment with nasalcontinuous positive airway pressure, suggesting that increased leptinresistance was not the cause of OSA or its associated vascularrisks.

Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we performed a secondary analysis on the spectrum and carrier status for 315 genes causing autosomal recessive disorders in 1543 Southern Chinese individuals with next-generation sequencing data, 1116 with exome sequencing and 427 with genome sequencing data. Our data revealed that 1 in 2 people (47.8% of the population) was a carrier for one or more recessive conditions, and 1 in 12 individuals (8.30% of the population) was a carrier for treatable inherited conditions. In alignment with current American College of Obstetricians and Gynecologists (ACOG) pan-ethnic carrier recommendations, 1 in 26 individuals were identified as carriers of cystic fibrosis, thalassemia, and spinal muscular atrophy in the Southern Chinese population. When the >1% expanded carrier screening rate recommendation by ACOG was used, 11 diseases were found to meet the criteria in the Southern Chinese population. Approximately 1 in 3 individuals (35.5% of the population) were carriers of these 11 conditions. If the 1 in 200 carrier frequency threshold is used, and additional seven genes would meet the criteria, and 2 in 5 individuals (38.7% of the population) would be detected as a carrier. This study provides a comprehensive catalogue of the carrier spectrum and frequency in the Southern Chinese population and can serve as a reference for careful evaluation of the conditions to be included in expanded carrier screening for Southern Chinese people.