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This study addresses critical gaps in supply chain management (SCM) by integrating emission-risk minimization (ERM), green purchasing (GP), and profit maximization (PM). The research focuses on the optimal behaviors of manufacturers, agents, and retailers within the SCM framework to achieve carbon neutrality and reduce carbon dioxide emissions (CO 2 e). This study considers Guangdong province, China, a region facing challenges in optimizing energy systems and meeting CO 2 e reduction targets. Simulation-based optimization techniques within mathematical models are employed. A design of experiment (DOE) method was used to explore the dynamics of key variables in the SCM environment. Results reveal optimal behaviors for manufacturers, agents, and retailers, demonstrating the ideal values for profit and pricing decisions. Manufacturers optimize production quantity, achieving CO2e reduction and PM through ERM. Agents exhibit a strong commitment to GP practices, enhancing PM and carbon-neutral goals. Retailers get more PM than manufacturers and agents, contributing to a clean environment. Interestingly, retailers make contributions to the clean environment without considering ERM and GP in SCM. The study contributes novel insights by addressing the identified gap in SCM research, emphasizing the joint consideration of ERM, GP, and PM. This research assists manufacturers, agents, and retailers in terms of PM for economic objectives. It cleans the environment through carbon-neutral SCM in society., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Jafar Hussain reports was provided by Nanchang Institute of Technology. Chien Chiang lee reports a relationship with Nanchang University that includes:. Data availability statement: Data are available from the authors upon reasonable request. Declaration of competing interest: None. Ethical approval: This article does not contain any studies with human participants or animals performed by any of the authors. Funding: All authors are grateful to the National Social Science Foundation Key Project of China for financial support through Grant No: 22AJL004, National Natural Science Fund of China (Grant No: 71831005), and Shenzhen Key Research Base of Humanities and Social Sciences (Grant No: P191001). This research is supported by the Shenzhen Science and Technology Program (Grant No: KCXST20221021111404010) and Shenzhen Humanities & Social Sciences Key Research Bases (Grant No: KP191001). If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Achieving economic development and ecological protection simultaneously is an inevitable selection for sustainable development in today's world, so it is crucial to improve eco-efficiency (EE). According to Chinese panel data at the provincial level between 2010 and 2020, this research explores the nexus between green finance (GF) and EE. The results denote that GF can significantly improve EE, and the higher the level of EE, the stronger the effect of improvement. The upgrading of industrial structure, optimization of energy structure, enterprises' concern for environmental protection and the public's attention to the environment are all favorable factors that can enhance the promotion effect of GF on EE. Additionally, this facilitation can only be played under a good external environment and mature internal conditions. Our findings can provide new insights for improving EE by developing GF., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Food security is a vital material foundation for a nation's development and has been a topic of significant concern on the international stage in recent years. With a population exceeding 1.4 billion, China is not only a major producer but also a substantial consumer of food. Ensuring food security in China is not only a top priority for its socio-economic development but also a driving force in maintaining the stability of the global food supply chain and reducing the number of hungry people worldwide. However, a lack of comprehensive research into the Chinese food security system remains. This study addresses this gap by constructing a comprehensive evaluation framework encompassing four dimensions: food supply, accessibility, production stability, and sustainability. Utilizing the Moran's Index and generating LISA (Local Indicators of Spatial Association) maps, we analyze the spatial correlations of food security. The Dagum Gini coefficient and kernel density estimation are applied to assess heterogeneity and spatial disparities. Furthermore, this research employs the Exponential Smoothing (ETS) model to forecast food security trends. The findings reveal that the overall composite food security score exhibited fluctuations, initially increasing and reaching its peak of 0.407 in 2003, followed by a subsequent sharp decline after 2019. Spatially, food security exhibits correlations, with the Huang-Huai-Hai Plain and Northeast regions consistently showing high-high clustering. In contrast, the Western and Southern regions exhibit low-low clustering at specific periods. The Dagum Gini coefficient indicates that overall food security disparities are relatively small. However, these disparities have gradually expanded in recent years, with inter-group differences becoming predominant after 2005. As indicated by the kernel density estimation, the dynamic distribution of food security initially widens and then narrows, suggesting a shift from dispersed to concentrated data distribution. This phenomenon is accompanied by polarization and convergence trends, particularly evident after 2015. According to the ETS model, the study forecasts a substantial risk of declining food security in China over the next decade, largely influenced by the ongoing pandemic. In conclusion, this research provides a comprehensive assessment of the changing status of food security in China. It offers early warnings through predictive analysis, addressing the existing research gaps in the field of food security., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Carbon emissions are a critical concern in the realm of energy consumption, with many nations committed to curbing them and striving for carbon neutrality. This research addresses a specific gap in the literature by focusing on carbon emission reduction in the industrial sector through the application of supply chain management (SCM) principles under a monopolistic competition context and by utilizing carbon neutral indicators. Specifically, we develop a mathematical model integrated into an agent-based simulation framework and employ experimental design methods to determine the most optimal decision-making processes for incorporating supply chain carbon neutral indicators. Our findings highlight the effectiveness of two specific carbon neutral indicators within SCM: green-credit policies and the promotion of green products. These measures contribute significantly toward reducing global carbon emissions. This paper offers insights for government decision-makers regarding ideal implementation levels and strategies for green credit policies and the promotion of green products within supply chain environments. It also provides guidance to manufacturers on how to achieve profit maximization while progressing towards carbon neutrality., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Green bonds are adopted to exclusively finance or refinance green projects and thus is an important policy instrument for sustainable development. The development of these eco-friendly projects benefits the reduction of carbon emission. What impacts do green bonds have on carbon emission intensity and how? This issue needs to be revealed, including the dynamic spatial interactive rules and regional heterogeneity. This is especially true for China, with its vast territory and a short history of green bonds. Different with existing literature, this paper collects the data of the amount of green bond issued in each province in China rather than the policy dummy variable of green bond. The spatio-temporal interactions of both the impact of green bonds and the related mechanisms are studied. A dynamic spatial Durbin model (DSDM) combined with a STIRPAT (Stochastic Impacts by Regression on Population, Affluence and Technology) model reveals the negative impacts of green bonds on carbon emissions and the spatio-temporal interactions. On this basis, the mediation model is introduced to clarify the three impact mechanisms of green bonds and find the predominant role of technology mechanism. In addition, different characteristics in spatial interactive rules and impact mechanisms of green bonds are found in various regions of China. Finally, the study proposes some policy recommendations on how to effectively reduce carbon emissions with green bonds., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

The study investigates the asymmetric effect of temperature, exchange rate, metals (rare metals and electrical conductors), and investor sentiments on solar stock price performance in China. The novel econometric techniques, i.e., QARDL (quantile autoregressive distributive lag) approach and Granger causality-in-quantiles to analyze the results. In both short- and long-run estimations, the findings suggest that rare metals (cadmium, germanium, indium, and selenium) and electrical conductors (silver, aluminum, and copper) have significant and positive linkage with solar energy stocks at different quantiles based on bullish, bearish, and normal market conditions. On the other hand, negative effects are found for temperature, RMB exchange rate, and investor sentiments in both the short- and long-run. In the short run, the effect of exchange rate varies across different quantiles but it confines to only lower quantiles (bearish market condition) in the longer run. Solar stocks are more prone to investor sentiments under higher quantiles (bullish market conditions). Lastly, we find that temperature is not merely a behavioral anomaly for the solar energy market as it spreads across middle quantiles (normal market conditions) in the longer run. The findings of Granger causality in quantiles further confirm the results of QARDL., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

This study aimed to evaluate the impact factors and effectiveness of management policies on the presence of polybrominated diphenyl ethers (PBDEs) in sediment samples in Taiwan from the last 10 years. Twenty-four PBDE congeners were detected in 838 sediment samples collected from 4 stages (2006-2019) in 30 principal rivers, based on the national project for background monitoring of the environmental distribution of chemical substances. The ΣPBDE concentrations in the 4 stages ranged from 30.00 to 147.10 ng/g dw, 6.03-15.30 ng/g dw, 4.99-7.00 ng/g dw, and 1.20-2.10 ng/g dw in the northern, southern, central, and eastern areas, respectively. The concentrations of PBDEs (e.g., penta-BDE and octa-BDE) in sediment samples notably decreased (-6 to -73%) as the Taiwan Environmental Protection Administration implemented policies banning PBDEs (except deca-BDE). The PBDEs levels of the sediment samples collected in the dry season were higher than those collected in the wet season. The levels of ΣPBDEs in sediment samples were affected by season, the amount of general waste present, and nearby PBDE-related factories and e-waste recycling facilities. Reducing the release of PBDEs, especially deca-BDE, through sound waste management and recycling practices is still needed to improve environmental sustainability in Taiwan., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

With the deepening of economic reforms in China, the low-energy transition is increasingly relying on government policy and enterprise participation. This research thus investigates the mechanism through which environmental regulation impacts industrial energy intensity. Based on provincial data during 2005-2019, we construct a dynamic panel model to capture the linkage between environmental regulation and the energy intensity with the consideration of the mediation effect of enterprise investment behavior, i.e., technology or financial investment. Our findings suggest a significant U-shaped relationship between regulation and energy intensity, and that enterprise investment behavior serves as a bridge to mediate the role of environmental regulation in alleviating energy intensity. Such effects are more pronounced for state-owned and large-sized enterprises. These findings can guide enterprises to invest in response to these regulations to further ensure energy efficiency., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Given China' rapid transformation, its economy is currently experiencing a change from a rugged development style to a sustainable development style with green development being critical to this transformation. Increasing green total factor productivity (GTFP) is now considered one of the significant signs of economic growth. With increasingly stricter environmental laws and regulations and a broad application of innovation capability (ICY) in modern life, this research investigates the impact mechanisms of both environmental regulations (ER) and ICY on GTFP, offering robust empirical results from panel data of 30 provinces in China covering the period 2006-2017. The results indicate that both ICY and ER effectively promote GTFP, but compared to ER, ICY has a heterogeneous effect on GTFP. Moreover, ICY plays a mediating role in ER and GTFP, while ER promotes GTFP through ICY. Accordingly, the paper puts forward some suggestions, such as to optimize and improve the ER policy, enact an innovation-driven development strategy, widely use ICY technology, and strengthen monitoring and supervision., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Because of their highly persistent, bioaccumulative and toxic properties, short-chain chlorinated paraffins (SCCPs) have become emerging contaminants and have been included in Annex A (elimination) of the Stockholm Convention since 2017. The contamination of SCCPs has been observed in the environment and biota worldwide but has not been detected in Taiwanese river ecosystems. Thus, this study aimed to determine the occurrence of SCCPs in sediments and fish from 30 major rivers in Taiwan and to evaluate the risk of SCCPs to river ecosystems and human health. The concentrations of SCCPs in sediments and fish ranged from ND (not detected) to 12.6 mg/kg dw and ND to 2.07 mg/kg ww, respectively. The concentrations of SCCPs in sediments were significantly correlated with some indicators of the discharge sources and water quality variables, indicating that SCCPs were released via human activities and various discharges into rivers and accumulated in sediments. The bioaccumulation of SCCPs in fish exhibited species-specific profiles and was related to environmental contamination levels and the living pattern and trophic level of the fish. The SCCP levels in sediments from 20 major rivers in Taiwan might pose a potential ecological risk to river ecosystems according to the criteria of the Federal Environmental Quality Guidelines in Canada, the biota-sediment accumulation factor and the risk quotient. Consumption of SCCP-contaminated river fish by different gender and age groups showed no significant health risk to residents in Taiwan evaluated by the estimated daily intake and hazard quotient. However, there was a health concern for the 0- to 3-year-old group due to the consumption of contaminated river fish at a bioaccessibility of 100% for SCCPs by the margin of exposure. Routine monitoring of SCCPs in river ecosystems is needed to protect aquatic organisms and human health., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Polycyclic aromatic hydrocarbons (PAHs) are diverse contaminants of global concern because of their ubiquity, toxicity, and carcinogenicity to many organisms, including humans. This study determines the distribution and sources of PAHs in sediments and fish from 30 major rivers in Taiwan, and the risks these PAHs pose to river ecosystems and human health. The total concentrations of 26 PAHs in sediments and fish were 0.016-7.44 mg/kg dw and 0.096-5.51 mg/kg ww, respectively. The PAH composition in sediments differed from that in fish, indicating that sediments may not be the major contributor of PAHs to fish. The accumulation of different PAH compounds in fish was species-specific, depending on the lipid content, living pattern, and trophic level of each fish species, and on the level of environmental contamination. The diagnostic ratios revealed that PAHs in the sediment primarily originated from pyrogenic sources, with some contribution from petrogenic sources. The contribution of each source varied with the sampling site and season. Several water and air quality variables were found to significantly correlate with PAH concentration in sediments and fish, suggesting that PAHs were mainly derived from wastewater discharge and combustion emissions. The 95th percentile risk quotient values suggested that PAHs in sediment from six rivers pose high ecotoxicological risks. The toxic equivalents of benzo[a]pyrene for 16 PAHs in fish were 12-108 μg/kg dw. A human risk assessment using the 95th percentile values of hazard quotient, hazard index, and margin of exposure revealed that the consumption of contaminated fish muscle poses no remarkable risk to human health. However, the 95th percentile carcinogenic risk values indicated that benzo[a]pyrene concentrations in some fish muscles may pose a carcinogenic risk. Benzo[a]pyrene risk management measures are, therefore, necessary., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Phthalate esters (PAEs) are one of the most widely used plasticizers in polymer products and humans are increasingly exposed to them. The constant exposure to PAEs-contained products has raised some concerns against human health. Thus, the impacts of PAEs and their metabolites on human health require a comprehensive study for a better understanding of the associated risks. Here, we attempt to review eight main health effects of PAE exposure according to the most up-to-date studies. We found that epidemiological studies demonstrated a consistent association between PAE exposure (especially DEHP and its metabolites) and a decrease in sperm quality in males and symptom development of ADHD in children. Overall, we found insufficient evidence and lack of consistency of the association between PAE exposure and cardiovascular diseases (hypertension, atherosclerosis, and CHD), thyroid diseases, respiratory diseases, diabetes, obesity, kidney diseases, intelligence performance in children, and other reproductive system-related diseases (anogenital distance, girl precocious puberty, and endometriosis). Future studies (longitudinal and follow-up investigations) need to thoroughly perform in large-scale populations to yield more consistent and powerful results and increase the precision of the association as well as enhance the overall understanding of potential human health risks of PAEs in long-term exposure., Competing Interests: Declaration of competing interest The authors declare that they have no competing financial interests or opposite opinions in this paper., (Copyright © 2021. Published by Elsevier B.V.)

Outward foreign direct investment (OFDI) in an open economy has gradually become an important source of green innovation (GI). With the rapid development of China's OFDI, this research studies the impact of OFDI on the country's GI, employing panel data of 30 provinces from 2006 to 2017. We first use the Super-SBM model to measure GI performance and then test the impact of OFDI on GI with the system GMM model. Evidence finds that the negative impact of OFDI on GI is not significant on the whole, but the results of regional regression show that impact of OFDI on GI exhibits obvious regional differences. We then utilize the dynamic threshold panel model to determine the non-linear relationship between OFDI and GI through the perspective of environmental regulation in order to avoid the bias caused by ignoring the impact of institutional factors and time dynamic change. After dividing environmental regulations into command control environmental regulation and market incentive environmental regulation, the research results show that the double threshold effects of both environmental regulations are significant. Command control environmental regulation does not play a role in promoting the effect of OFDI on GI. When the intensity of market incentive environmental regulation is low, OFDI negatively affects GI. Moreover, only when the market incentive regulation shows high intensity can OFDI significantly promote GI. With the continuous growth of China's OFDI, it is therefore necessary to determine the appropriate environmental regulation to improve the reverse spillover effect of OFDI enterprises on the country's GI., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH, DE part of Springer Nature.)

The major limitations of clinical outcome predictions of osteomyelitis mediated by Staphylococcus aureus (S. aureus) are not specific and definitive. To this end, current studies aim to investigate host immune responses of trend changes of the iron-regulated surface determinant (Isd) of IsdA, IsdB, IsdH, cell wall-modifying proteins of amidase (Amd) and glucosaminidase (Gmd), and secreted virulence factor of chemotaxis inhibitory protein S. aureus (CHIPS) and staphylococcal complement inhibitor (SCIN) longitudinally to discover their correlationship with clinical outcomes. A total of 55 patients with confirmed S. aureus infection of the long bone by clinical and laboratory methods were recruited for the study. Whole blood was collected at 0, 6, 12 months for the serum that was used to test IsdA, IsdB, IsdH, Gmd, Amd, CHIPS, and SCIN using a customized Luminex assay after clinical standard care parameters were collected. The patients were then divided into two groups: (1) infection controlled versus (2) adverse outcome based on clinical criteria for statistical analysis. We found that standard clinical parameters were unable to distinguish therapeutic outcomes. Significant overexpression of all antigens was confirmed in infection patients at 0-, 6-, and 12-month time points. A distinct expression trend and dynamic changes of IsdB, Amd, Gmd, and CHIPS were observed between infection controlled and adverse outcome patients, while the IsdA, IsdH, SCIN remained demonstrated no statistical significance. We conclude that dynamic changes of specific antigens could predict clinical outcomes of S. aureus osteomyelitis. Clinical Relevance: The trend changes of host immune responses to S. aureus specific antigens of IsdB, Gmd, Amd, and CHIPS could predict clinical outcomes of S. aureus osteomyelitis., (© 2020 Orthopaedic Research Society. Published by Wiley Periodicals LLC.)

China is now the world's largest energy consumer, but severe air pollution problems have brought greater pressure to the production and development of its domestic economy. As an unavoidable result of air pollution, PM 2.5 emissions are increasing. Previous literature has focused more on the impact of PM 2.5 on the micro-level such as resident health and company location, yet macro-pattern studies between PM 2.5 and innovation are inadequate. To bridge this gap, our research uses a spatial dynamic panel data model to systematically investigate the internal and external effects of PM 2.5 concentration on innovation in China during the period 2001-2016. After forming a dataset of real-time PM 2.5 concentration from satellite detection and using an innovation index instead of patents, we find a stronger spatial linkage between PM 2.5 concentration and innovation. Thus, PM 2.5 inhibits regional innovation significantly, and this result still exists after using the air mobility index as an instrument variable to alleviate endogenous problems. Lastly, PM 2.5 concentration in neighboring regions also impedes local innovation considerably, indicating a spatial ripple effect of PM 2.5 .

To promote county economic prosperity and social development, China enacted a fiscal reform known as "province governing county" (PGC) in the early 2000s. Using the difference-in-differences (DID) method and a massive sample of enterprises from 2003 to 2011, this study investigates the effect of PGC reform on firm environmental performance. The results show that enterprises in reformed counties have significantly decreased their pollution intensity since the fiscal reform. Our research reveals that the environmental effects of fiscal decentralization are related to changes in the political assessment metrics of local officials. It also shows that PGC fiscal reform has a significant positive effect on the environmental performance of large, small, and micro enterprises. Furthermore, it suggests that PGC fiscal reform benefits the environmental performance due to the informational advantages of county governments. In terms of environmental governance, although local governments have an information advantage in the allocation of green fiscal funds, well-designed mechanisms are needed to strengthen their motivation.

Ever since China's "housing reform" in 1998, the level of real estate investment in its cities has continued to rise, leading to the occupation of green space, rapid population concentration, and a severe mismatching of financial resources. At the same time, urban air quality has changed drastically for the worse, with PM2.5 becoming the primary air indicator of concern for many cities in recent years. The existing literature has obtained sufficient results on the influence factors of air pollution, but rarely presents the relationship between real estate investment and air pollution, especially using multiple cities as the sample. This paper thus examines the impact of real estate investment on air quality using a sample of 261 prefecture-level cities in China over the period 1999-2016 through several econometric models. First, the two-way fixed-effect model shows an inverted U-shaped relationship between PM2.5 concentration and real estate investment, but most cities have not yet crossed the turning point, and that real estate investment negatively impacts air quality. Second, the indirect effect of real estate investment on PM2.5 concentration comes from its non-linear impact on urban green coverage, population density, and industrial structure, which has been verified by Hayes and Preacher's (Behav Res 45:627-660, 2010) mediation effect with non-linear forms. Third, heterogeneity analysis indicates that an inverted U-shaped relationship also exists in the subsamples, and that real estate investment in cities with more people, higher GDP, and greater development level is more likely to increase rather than mitigate air pollution. Therefore, cities should promote the green development of real estate and related industries by enhancing environmental awareness, guide the population flow toward the coordinated development between real estate investment and population distribution, and encourage environmentally friendly technological progress via a better rational allocation of financial resources.

Theory: Taiwan's medical undergraduate program at a university or medical center is a continuation of 12 years of compulsory citizenship education rooted in holistic philosophies. Students acquire both technical knowledge and nontechnical attributes, which are necessary for success in further work and life. The early clinical learning experiences of medical students are primarily acquired through clerkships. These clerkships require medical students to apply and extend what they learned during their preclinical education; however, previous studies have explored this issue through examining fragmentary factors such as preclinical course grades and traits but not undertaking comprehensive, whole-person investigations., Hypotheses: To account for the potential benefits of a holistic approach in medical students' learning, we propose three hypotheses: Medical students' preclinical performance on Taiwan's technical and nontechnical higher education assessments are positively associated with their clinical competence (Hypothesis 1) and psychological well-being (Hypothesis 2) during clerkships, and medical students' psychological well-being during clerkships is positively associated with their clinical competence (Hypothesis 3)., Method: We studied a cohort of 65 medical students engaged in clerkships from September 2013 to April 2015. Their preclinical technical knowledge scores-formal curricular grades received from course instructors-were obtained from their medical school's archival dataset. Their nontechnical attributes-moral and social performance scores received from student mentors and physical performance scores received from course instructors-were also obtained from the school's archival data set. The medical students' competence in their 2-year clinical clerkships was measured using the objective structured clinical examination scores from the end of both clerkship years. The medical students' psychological well-being during their 2-year clerkships was measured according to burnout level, which was determined using routine online surveys that employed validated, structured, and self-administered questionnaires at each specialty rotation. Multiple regressions and linear mixed-effects model were employed for statistical analysis., Results: Our study revealed that higher preclinical technical knowledge predicted superior clinical competence and a higher level of burnout during clerkships. By contrast, higher preclinical nontechnical attributes (i.e., higher preclinical moral, social, and physical performance) predicted lower level of burnout. However, no relationship was discovered between clerkship burnout and the clinical competence of the medical students., Conclusions: Our study verified the value of a holistic education that encompasses both technical knowledge and nontechnical attributes during the preclinical learning stage for medical students. Our findings can serve as a reference for medical educators designing preclinical educational programs for medical students.

Background: Recent studies have demonstrated that red cell distribution width (RDW) is associated with cardiovascular (CV) events and mortality. Patients with chronic kidney disease (CKD) are often anemic and have high RDW levels. In this study, we investigated the effect of RDW on major composite CV outcomes among patients with CKD., Methods: We retrospectively analyzed patients with CKD who were admitted to the department of cardiology of a tertiary hospital in 2011. The patients were divided into 2 groups: normal RDW (RDW < 14.5%) and elevated RDW (RDW ≥ 14.5%). Demographic characteristics, comorbidities, blood investigation results, prescriptions, and outcomes were analyzed after a 3-year follow-up period. Six adjustment levels were performed to evaluate the effect of RDW on outcomes., Results: This study involved 282 patients with CKD: 213 in the elevated RDW group and 69 in the normal RDW group. The elevated RDW group had older patients, a lower proportion of male patients, lower left ventricular ejection fraction (LVEF) values, lower hemoglobin levels, lower serum albumin levels, and higher creatinine levels, compared with the normal RDW group. A linear trend was observed toward higher RDW in patients with deteriorating renal function. In the final adjusted model, RDW ≥ 14.5%, older age, and lower LVEF were associated with an increased risk of major composite CV outcomes., Conclusion: RDW is a potentially useful cost-effective indicator of major composite CV outcomes in patients with CKD.

Introduction: Mentorship has been noted as critical to medical students adapting to clinical training in the medical workplace. A lack of infrastructure in a mentoring program might deter relationship building between mentors and mentees. This study assessed the effect of a redesigned clinical mentoring program from the perspective of clerks. The objective was to assess the benefits of the redesigned program and identify potential improvements., Methods: A redesigned clinical mentoring program was launched in a medical center according to previous theoretical and practical studies on clinical training workplaces, including the elements of mentor qualifications, positive and active enhancers for mentor-mentee relationship building, the timing of mentoring performance evaluation, and financial and professional incentives. A four-wave web survey was conducted, comprising one evaluation of the former mentoring program and three evaluations of the redesigned clinical mentoring program. Sixty-four fifth-year medical students in clerkships who responded to the first wave and to at least two of the three following waves were included in the study. A structured and validated questionnaire encompassing 15 items on mentor performance and the personal characteristics of the clerks was used. Mixed linear models were developed for repeated measurements and to adjust for personal characteristics., Results: The results revealed that the redesigned mentoring program improved the mentors' performance over time for most evaluated items regarding professional development and personal support provided to the mentees., Conclusions: Our findings serve as an improved framework for the role of the institution and demonstrate how institutional policies, programs, and structures can shape a clinical mentoring program. We recommend the adoption of mentorship schemes for other cohorts of medical students and for different learning and training stages involved in becoming a physician.

Objectives: The c.2268dup mutation in the thyroid peroxidase (TPO) gene is the most common TPO alteration reported in Taiwanese patients with thyroid dyshormonogenesis. The ancestors of these patients are believed to originate from the southern province of China. Our previous study showed that this mutation leads to reduced abundance of the TPO protein and loss of TPO enzyme activity in a Malaysian-Chinese family with goitrous hypothyroidism. The aim of our study was to provide further data on the incidence of the c.2268dup mutation in a cohort of Malaysian-Chinese and its possible phenotypic effects., Setting: Cohort study., Participants: Twelve biologically unrelated Malaysian-Chinese patients with congenital hypothyroidism were recruited in this study. All patients showed high thyrotropin and low free thyroxine levels at the time of diagnosis with proven presence of a thyroid gland., Primary Outcome Measure: Screening of the c.2268dup mutation in the TPO gene in all patients was carried out using a PCR-direct DNA sequencing method., Secondary Outcome Measure: Further screening for mutations in other exonic regions of the TPO gene was carried out if the patient was a carrier of the c.2268dup mutation., Results: The c.2268dup mutation was detected in 4 of the 12 patients. Apart from the c.2268dup and a previously documented mutation (c.2647C>T), two novel TPO alterations, c.670&#95;672del and c.1186C>T, were also detected in our patients. In silico analyses predicted that the novel alterations affect the structure/function of the TPO protein., Conclusions: The c.2268dup mutation was detected in approximately one-third of the Malaysian-Chinese patients with thyroid dyshormonogenesis. The detection of the novel c.670&#95;672del and c.1186C>T alterations expand the mutation spectrum of TPO associated with thyroid dyshormonogenesis., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented. In this study, homozygous c.2268dup mutation was detected in two Malaysian-Chinese sisters with goitrous CH. Normal and alternatively spliced TPO mRNA transcripts were present in thyroid tissues of the two sisters. The abnormal transcript contained 34 nucleotides originating from intron 12. The c.2268dup is predicted to generate a premature termination codon (PTC) at position 757 (p.Glu757X). Instead of restoring the normal reading frame, the alternatively spliced transcript has led to another stop codon at position 740 (p.Asp739ValfsX740). The two PTCs are located at 116 and 201 nucleotides upstream of the exons 13/14 junction fulfilling the requirement for a nonsense-mediated mRNA decay (NMD). Quantitative RT-PCR revealed an abundance of unidentified transcripts believed to be associated with the NMD. TPO enzyme activity was not detected in both patients, even though a faint TPO band of about 80 kD was present. In conclusion, the c.2268dup mutation leads to the formation of normal and alternatively spliced TPO mRNA transcripts with a consequential loss of TPO enzymatic activity in Malaysian-Chinese patients with goitrous CH.

Introduction: This study determines Chinese body segment parameters based on a magnetic resonance imaging method., Methods: Fifty young Chinese men (21.5 ± 1.52 yr) participated in this study. Magnetic resonance images were obtained using a GE magnetic resonance imaging 1.5-T scanner with 10-mm thickness. The magnetic resonance digital images were analyzed using medical imaging software. This study separated the human body into 14 segments, including the head and neck, trunk, upper arm, forearm, hand, thigh, shank, and foot to calculate the percentage of mass of total body mass (%M), center of mass location (%CM), and moments of inertia (I) for each segment., Results: The study results showed %M and %CM of the head and neck (8.21 and 52.69), trunk (42.28 and 41.96), upper arm (3.25 and 47.16), forearm (1.36 and 40.98), hand (0.54 and 32.60), thigh (13.50 and 48.56), shanks (4.63 and 41.68), and foot (1.47 and 47.51). Compared with other cadaver-based and in vivo studies, our findings indicate a lower %M and %CM at the hand, forearm, and trunk but higher %M and %CM at the head. The differences may be due to the race, lifestyle, age, and level of participants. The discrepancies in segment boundaries and coordinate system may also contribute to these differences. Most previous studies have either used cadavers from older Caucasian men or drawn conclusions from a limited sample size., Conclusions: This study establishes a new model to provide thorough information of Chinese body segment parameters for enhanced ergonomic design and more accurate human movement studies.

Background: X-ray repair cross-complementing group 1 (XRCC1) plays a central role in mammalian DNA repair process. The polymorphism rs25487 (Arg>Gln at codon 399) of this gene is common in Han Chinese population., Objectives: The objective of this study was to analyze the association between this functional SNP of XRCC1 and Tourette syndrome (TS) in Han Taiwan Chinese population., Methods: Genotyping was performed by using PCR-RFLP method on 73 TS patients and 158 normal controls., Results: Our data indicated that genotype frequency of A/G polymorphism at codon 399 of the patients differed from the controls (P = 0.026, OR: 2.22, 95% CI: 1.22-4.03). The allele frequency analysis also showed significant differences with higher A allele frequency in patients (P = 0.015, OR: 1.70, 95% CI: 1.11-2.62)., Conclusion: Our study indicates that the functional SNP at codon 399 of XRCC1 is associated with TS development., (© 2012 Wiley Periodicals, Inc.)

The study aims to examine whether the annual variations in fasting plasma glucose (FPG) measurements, represented by the coefficient of variation (CV), predict cancer incidence and mortality in the subsequent years independent of traditional risk factors of type 2 diabetic patients. A computerized database of patients with type 2 diabetes of 30 years old and older (n=4805) enrolled in the Diabetes Care Management Program of a medical center before 2006 was analyzed using a time-dependent Cox's proportional hazards regression model. The mortality rates for the first, second, and third tertiles of the first annual FPG-CV were 8.64, 12.71, and 30.82 per 1000 person-years respectively. After adjusting for mean FPG, HbA1c, and other risk factors, the annual FPG-CV was independently associated with cancer incidence, cancer mortality, and cancer incidence or mortality, and the corresponding hazard ratios for the third vs first tertile of the annual FPG-CV were 3.03 (1.98, 4.65), 5.04 (2.32, 10.94), and 2.86 (1.91, 4.29) respectively. The annual variation in FPG was a strong predictor of cancer incidence and mortality in type 2 diabetic patients; therefore, glucose variation may be important in the clinical practice of care management and cancer prevention.

The aim of this article is to describe a formal process used to translate research study materials from English into traditional Chinese characters. This process may be useful for translating documents for use by both research participants and clinical patients. A modified Brislin model was used as the systematic translation process. Four bilingual translators were involved, and a Flaherty 3-point scale was used to evaluate the translated documents. The linguistic discrepancies that arise in the process of ensuring cross-cultural congruency or equivalency between the two languages are presented to promote the development of patient-accessible cross-cultural documents.

Like other allergic diseases, asthma results from multiple conditions. Asthmatic beginning and severity are mediated by both environmental and genetic factors. In asthma studies, important work is realization of the genetic background and identification of genetic factors resulting in asthma development and phenomena. Here, we investigated whether interleukin (IL)-18 single nucleotide polymorphisms (SNPs) are involved in Chinese asthma patients. IL-18 (IL-18) SNP was detected by polymerase chain reaction (PCR)-based restriction analysis in 201 patients with asthma and 60 normal controls. Significant differences were found in the genotype distribution of IL-18 SNP between asthma patients and controls (P=0.000003). Allelic frequency of the IL-18 gene distinguished asthma patients from controls (P=0.000066). The results revealed a significant difference between asthma patients and normal controls in IL-18 SNP and a statistical correlation between IL-18 polymorphisms (105A/C) and asthma formation. We concluded that Chinese who carry the C/C homozygote of the IL-18-105A/C gene polymorphism in coding regions may have a higher risk of developing asthma., ((c) 2008 Wiley-Liss, Inc.)

The purpose was to examine the agreement (convergent validity) between six common measures of habitual physical activity to estimate durations of light, moderate, vigorous, and total activity in a range of free-living individuals. Over 7 consecutive days, 49 ethnic Chinese (30 men, 19 women), aged 15-55 yr, wore a Polar heart rate monitor, a uniaxial MTI, and triaxial Tritrac accelerometer, plus a Yamax pedometer for > or = 600 min/day. They also completed a daily physical activity log and on day 8 a Chinese version of the 7-day International Physical Activity Questionnaire. At each level of activity, there was good agreement between the two questionnaire-derived instruments and the two accelerometry-derived instruments, but wide variation across different instruments, with two- to fourfold differences in mean durations often seen. The heart rate monitor overestimated light activity and underestimated moderate activity compared with all other measures. Spearman correlation coefficients were low to moderate (0.2-0.5) across most measures of activity, with the pedometer showing correlations with total activity that were often superior to the other movement sensors. We conclude that, with the use of commonly accepted cut points for defining light, moderate, vigorous, and total activity, little convergent validity across the instruments was evident, suggesting these measures are sampling different levels of habitual physical activity and care is needed when comparing their results. To provide a more stable comparison of activity among different people, across studies, or against accepted physical activity promotion guidelines, further work is needed to fine tune the different cut points across a range of common activity monitors to provide more consistent results during free-living conditions.

Background: Psychometric properties of the Chinese version of CBCL, TRF, and YSR were understudied. This study aimed at examining their test-retest reliability and criterion validity., Methods: Three Chinese community and clinic samples were recruited in Hong Kong. The parents, teachers, and youths respectively completed the CBCL, TRF, and YSR., Results: The Chinese CBCL, TRF, and YSR were test-retest reliable and valid. However, there was score/case attenuation at retest. CBCL and TRF appeared to screen externalizing and ADHD problems better, while YSR screened internalizing problems better., Conclusions: Clinicians should be cautious about score/case attenuation at retest while using CBCL, TRF, and YSR to chart patients' progress. They should also recognize their different strengths in screening various disorders.

Background: The Rhinitis Symptom Utility Index (RSUI), originally developed in the United States, consists of a patient-preference weighting scheme and a 10-item questionnaire measuring the severity and frequency of rhinitis related symptoms over a 14-day period. This study aimed to determine whether the Chinese RSUI could adopt the US-based multi-attribute utility function (MAUF) in scoring rhinitis symptoms., Methods: In a Hong Kong study, 116 Chinese adults with allergic rhinitis completed the RSUI questionnaire and 36-item Short-Form Health Survey (SF-36) after they had been seen by two otorhinolaryngologists for disease-severity ratings. Respondents then completed computer-administered direct preference measures, i.e., visual analogue scale (VAS) and standard gamble (SG) assessments. The VAS and SG data were used to estimate a MAUF for the Chinese-based RSUI., Results: The derived MAUF was somewhat different than the one developed for the US RSUI. Test-retest reliability for the Chinese RSUI was satisfactory (ICC = 0.71, p<0.001). Scores differentiated among cases with mild, moderate, and severe symptoms (p<0.001); and between those who did and did not require medications to control symptoms (p = 0.031). Findings were significantly correlated with SF-36 domain scores (r = 0.19 to 0.37; p=0.041 to <0.001). When the US-based scoring function was applied to the Chinese subjects, the resulting mean RSUI score was significantly lower (p<0.001). Comparisons between directly measured VAS and SG scores between the US and Chinese samples, demonstrated significant differences (all p<0.05), with the US subjects consistently rating rhinitis symptoms as worse than Chinese subjects., Conclusions: The Chinese RSUI has good measurement properties that reflect patient preferences from the Chinese. Results suggest that there are differences in preference rating between US and Chinese subjects and that use of the US-based preference function for the RSUI would bias the measurement of rhinitis symptom outcomes in Chinese subjects.

The etiology of the autoimmune thyroid, Hashimoto's thyroiditis (HT) is not very clear. However, genetic susceptibility is thought to play a critical role. The vitamin D receptor (VDR)-related endocrine system has been demonstrated to be able to carry out modulation of the immune response. Here, we investigated whether single nucleotide polymorphisms (SNPs) of VDR are associated with HT patients. VDR SNP was detected by polymerase chain reaction (PCR)-based restriction analysis in 109 patients with HT and 90 normal controls. Significant differences were found in the genotype distribution of VDR SNP between Hashimoto's thyroiditis patients and controls (P=0.0458). Allelic frequency of the VDR gene distinguished HT patients from controls (P=0.0089). The results revealed a significant difference between HT patients and normal controls in VDR SNP and a statistic correlation between VDR-FokI polymorphisms and HT formation. It could be concluded that patients who carry the C/C homozygote of the VDR-FokI gene polymorphism in exon 2 may have a higher risk of developing HT in Chinese patients in Taiwan., ((c) 2006 Wiley-Liss, Inc.)

A survey of 2,099 gram-negative bacilli from community infections at seven centers in the People's Republic of China is reported. The rates of resistance of 1,615 isolates of the family Enterobacteriaceae were as follows: 40.8% for ciprofloxacin, 32.2% for gentamicin, 0% for imipenem or ertapenem, and 14.7% for cefotaxime. The rates of extended-spectrum beta-lactamase production were 16% for Escherichia coli and 17% for Klebsiella.

Objective: To compare the antimicrobial resistance patterns of Acinetobacter baumannii isolates from Shanghai and Hong Kong., Materials and Methods: A total of 212 A. baumannii strains of one isolate per patient were collected from Shanghai and Hong Kong from August 2002 to August 2003 that were tested against 15 commonly used antimicrobial agents by the agar dilution method according to the NCCLS guidelines., Results: Most beta-lactams showed no significant increase in activity after adding beta-lactamase inhibitors. The resistance rates of the isolates against ticarcillin-clavulanate, piperacillin-tazobactam and ampicillin-sulbactam were for Shanghai 74.9, 70.9, 69.1% and Hong Kong 24.3, 18.9, 13.5%, respectively. Only cefoperazone-sulbactam showed a significant increase in activity against both Shanghai and Hong Kong strains, as the resistance rates dropped from 93.7 to 8.6% and 83.8 to 5.4%, respectively. The resistance rates of ceftazidime, cefepime, and gentamicin against Shanghai strains were 69.7, 72.0, 73.7% and Hong Kong strains 69.7, 29.7, 18.9%, respectively. About 65% of Shanghai strains were found to be amikacin-resistant, however, all Hong Kong strains were sensitive. Fluoroquinolones including ciprofloxacin and levofloxacin had resistance rates over 60% against Shanghai strains, but only 13.5% against Hong Kong strains. Shanghai strains had imipenem and meropenem resistance rate of 6.3%. Though 10.8% Hong Kong strains were resistant to meropenem, only 2.7% of them were resistant to imipenem., Conclusion: A. baumannii isolated from Shanghai were more resistant to all drugs except meropenem than Hong Kong isolates. The results indicate a need for measures to control the abuse of antibiotic usage in order to prevent the emergence of more multidrug-resistant isolates in both cities.

There is an increased prevalence of the 7-repeat (7R) allele of the dopamine receptor D4 (DRD4) gene in attention-deficit/hyperactivity disorder (ADHD). However, the population prevalence of the 7R allele varies considerably across ethnicity and is very low in Asians. To test whether this 7R allele/ADHD association still held in a Chinese clinical sample, 32 Han Chinese children with a confirmed ADHD diagnosis and normal IQ who were methylphenidate-responders were genotyped. None of them had a DRD4 7R allele. Instead, we observed a significantly increased prevalence of the 2-repeat (2R) allele in this clinical sample (33%) compared to ethnically-matched controls (20%) (chi(2)(1d.f.) = 5.90, P = 0.015). This approximately 1.65-fold increase of the 2R allele in our probands is close to the observed increase of the 7R allele in European-ancestry ADHD children. Recent genetic studies have indicated that the 2R allele in Asians is likely derived from the 7R allele. Further, available biochemical data indicate that both the 2R and 7R protein have blunted responses to dopamine compared to the 4R protein. Based on these results, we propose that the observed increased prevalence of the 2R allele in our Han Chinese ADHD probands is still consistent with the 7R allele hypothesis of ADHD in European-ancestry children. Recent studies have suggested that any variant from the conserved ancestral 4R allele might potentially alter biochemistry/phenotype. We hypothesize that an increased frequency of any non-4R allele may define the association of the DRD4 gene with ADHD that holds across ethnicity. The present findings, however, obtained with a small ADHD sample size, should be replicated., ((c) 2004 Wiley-Liss, Inc.)

Objective: To examine the effects of an ankle-foot orthosis (AFO) on balance performance in patients with hemiparesis of short and long duration., Design: Within-subject random order of intervention, cross-sectional study design., Settings: Medical centres and district hospitals., Subjects: Forty-two subjects with hemiparesis of short duration (< six months) and 61 subjects of long duration ( > 12 months)., Measurements: The balance and gait ability of subjects were evaluated both with an AFO and without. The static and dynamic balance activities were evaluated by the Balance Master System, whereas the functional balance was assessed with the Berg Balance Scale. The speed and cadence were also measured during a 10-metre walk. Paired t-test was used to determine the effect of the AFO., Results: In subjects with hemiparesis of short duration, we found that subjects wearing an AFO showed significant improvements in (1) weight-bearing distribution during quiet standing (p = 0.042, 95% confidence interval (CI) 0.521, 7.325), (2) body sway during standing on foam surface with eyes open (p = 0.020, 95% CI 0.020, 0.680) and eyes closed (p = 0.041, 95% CI 0.023, 0.921), (3) movement velocity during limit of stability test (LOS)--toward the affected side (p = 0.037, 95% CI - 0.978, - 0.042) and nonaffected side (p = 0.008, 95% CI -2.223, - 0.377), (4) maximal excursion toward the affected side (p= 0.042, 95% CI -19.546, -0.071), and (5) speed (p=0.028, 95% CI -0.204, -0.017) and cadence (p= 0.021, 95% CI - 22.983, - 1.864). Such effects were not observed in subjects with hemiparesis of long duration., Conclusions: For the subjects with hemiparesis of short duration, the AFO improves the symmetry in quiet and dynamic standing balances. It also increases speed and cadence. However, its effectiveness is minimal for patients of long duration.

Total iodide organification defect (TIOD), where the iodide in the thyroid gland cannot be oxidized and/or bound to the protein, is caused by a defect in the thyroid peroxidase (TPO) gene. Single strand conformation polymorphism analysis was used to screen for mutations in the TPO gene from five unrelated TIOD patients in Taiwan, and five novel mutations were detected. Three of these were frameshift mutations: a single T insertion between nucleotide position 2268 and 2269 (c.2268-2269 insT) in exon 13 and two single C deletions at nucleotide positions 843 (c.843 delC) and 2413 (c.2413 delC) in exon 8 and 14 respectively. The other two were single nucleotide substitutions (c.G1477>A and c.G2386>T) located in exons 9 and 13 respectively. While the former would result in amino acid substitution (Gly493Ser) in the highly conserved region of the TPO polypeptide, the latter would result in either amino acid substitution (Asp796Tyr) or alternative splicing. Of those identified TPO mutations, c.2268-2269 insT was most prevalent and was detected as heterozygous in all but one TIOD patients. All five TIOD patients investigated in this study were compound heterozygous. The method presented in this study could be used for carrier assessment and mutation analysis of newly identified TIOD patients.

Background: Commercial serological tests for the detection of Helicobacter pylori infection must be locally validated. We evaluated the accuracy of five commercial tests in the Chinese population., Methods: Serum samples were collected from patients referred for upper endoscopy. Antral biopsies were taken for histological examination and culture of H. pylori. The gold standard for diagnosing H. pylori infection was positive histological staining and/or positive H. pylori culture. The serum samples were tested for H. pylori antibodies using the following tests: (i) Cobas Core Anti-H. pylori EIA; (ii) GAP IgG; (iii) GAP IgM; (iv) H. pylori microwell EIA (Quidel); and (v) Premier H. pylori. The sensitivity, specificity and accuracy of each test was calculated according to the manufacturers' instructions or according to a new cut-off value., Results: A total of 158 patients were recruited amongst whom 114 (72%) were H. pylori-positive. Indeterminate results varied from 7% to 19%. The accuracy of the tests varied from 57% to 85%. By using new cut-off values, the accuracy was much improved, ranging from 73.4% to 86.7%., Conclusions: By defining new cut-off values for the Chinese population, we were able to improve the performance of some of the serology tests. This illustrates the importance of local validation.

To evaluate of the effect of dancing on bone mineral density (BMD) we compared 29 Chinese girls who had been receiving regular ballet training for at least 6 years with a control group of 20 nonathletic sex- and age-matched Chinese girls. BMD was measured at the second to fourth lumbar spine and at the right femoral neck using a commercial dual-energy X-ray absorptiometer (DEXA). There were no significant differences in either measured BMD or spinal BMD after adjusting for body weight (body mass index). Adjusted BMD of the femoral neck, however, showed significant differences (P <0.05). Results revealed that the ballet dancers were significantly thinner than the control group and the negative effect of a lower bodyweight may neutralize the positive effect of ballet dancing on BMD, especially in the femoral neck.

Unlabelled: A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis. We studied 18 Taiwan Chinese patients with various types of craniosynostosis to evaluate if this mutation is also prevalent in the Chinese population. Genomic DNA was analysed by polymerase chain reaction based restriction analysis and direct sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 probands were heterozygous for the Pro250Arg mutation. Only those patients with coronal synostosis carried this mutation., Conclusion: Our findings suggest that all patients with coronal synostosis should be examined for this unique mutation.

Type I oculocutaneous albinism (OCA1) is an autosomal recessive disorder, which is caused by the reduction or the absence of tyrosinase activity in melanocytes of the skin, hair and eyes. Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, there is no systemic study of OCA1 mutation in Chinese patients. By use of single strand conformation polymorphism and direct sequencing, we had detected 21 mutant alleles out of 24 OCA1 chromosomes screened (87.5%). Detected mutant alleles include one splicing site, three insertion/deletion and five missense mutations, of which the splicing site nucleotide alteration (IVS 1-3C>G) and two each of the insertion/deletion (232-233 ins GGG and 861-862 del TT) and missense mutations (Cys 289 Gly and Trp 400 Leu) are novel. The ins/del mutations accounts for about 37.5% in Chinese OCA1 alleles. The 232-233 ins GGG, one of the novel mutations, was found to be most frequent (25%) among the OCA1 alleles in Chinese. Through this study, we found that while some of the OCA mutant alleles were identified in other populations, ethnic difference still exists. Hum Mutat 14:542, 1999., (Copyright 1999 Wiley-Liss, Inc.)

The clinical features of a patient in a Chinese family with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) are reported. The study revealed that hearing and visual impairments and miscarriages may be early clinical presentations in MELAS. A heteroplasmic A to G transition in the tRNA(Leu(UUR)) gene was noted at the nucleotide pair 3243 in the mitochondrial DNA of muscle, blood, and hair follicles of the proband and his maternal relatives. Quantitative analysis of the mutated mitochondrial DNA revealed variable proportions in different tissues and subjects of maternal lineage in the family. Muscle tissue contained a higher proportion of the mutant mitochondria than other tissues examined. The function of the reproductive system of the proband seems to be impaired. In one clinically healthy sibling, the 3243rd point mutation was found in sperm mitochondrial DNA, although sperm motility was not affected. It seems that biochemical defects in mitochondrial respiration and oxidative phosphorylation are tissue specific expressions of the 3243rd point mutation in the mitochondrial DNA of the affected target tissues.

We report myoclonic epilepsy with ragged-red fibers (MERRF) syndrome in a Chinese family with confirmed mitochondrial DNA point mutation. Six members of the family including the grandmother, two siblings, and three grandchildren were affected. Among them, action myoclonus was seen in five; short stature, muscle weakness, and mental retardation in four; lactic acidosis, hearing impairment, and ataxia in two; and seizures in one. Muscle biopsy from two affected siblings revealed ragged-red fibers and abundant subsarcolemmal mitochondria with paracrystalline inclusions. Pedigree analysis suggests a maternal transmission. Analysis of mitochondrial DNA showed a point mutation from A to G at the 8344th nucleotide position located in the tRNA(Lys) gene. To our knowledge, this is the first report of MERRF syndrome with such genetic defect from a Chinese family. The present and previous reports support the notion that mitochondrial DNA point mutation at the 8344th nucleotide position is the most common cause of MERRF syndrome.

Alpha-1-1-antitrypsin phenotypes were determined by isoelectric focusing in 270 Koreans and 52 Chinese. The frequencies of the major alleles were the following, numbers for the Chinese sample are in parentheses: PiM1: 0.65 (0.66), PiM2: 0.22 (0.25), PiM3: 0.06 (0.09). Other alleles, including PiZ were present in low frequencies. The Koreans appear to be quite similar to the Chinese in this system.