Search

Background: Testicular volume in neonates is a potential indicator of testicular development during the fetal period, particularly the masculinization programming window. Reliable measurements of testicular volume provide an opportunity for early detection of testicular abnormalities. This study aimed to assess the testicular volume in neonates and evaluate its relationship with gestational week and birth weight in Hainan Province, China. Methods: Data on 458 neonates who underwent ultrasonography examinations at our institution from 2018 to 2022 were collected. The neonates were categorized by gestational week, birth weight, and presence of cryptorchidism. We evaluated the testicular volume among different groups and its relationship to gestational week and birth weight. Results: There was no significant difference between the right and left testicular volume in neonates without cryptorchidism. However, a significant difference was observed between normal birth weight and low birth weight neonates in terms of testicular volume. Similarly, there was a significant difference between premature and full-term neonates in testicular volume. Bilateral testicular volume showed positive and significant correlations with gestational week and birth weight. Additionally, a significant difference was noted in testicular volume between the affected side in neonates with cryptorchidism and the same side in normal birth weight full-term neonates. Conclusions: We established the normal range of testicular volume for neonates in Hainan Province and demonstrated that testicular volume is positively correlated with both birth weight and gestational week. Cryptorchidism also affects testicular volume during the neonatal period, likely due to reduced androgenic exposure in utero, particularly during the masculinization programming window. The findings of this study have significant implications for assessing testis development during fetal development. [ABSTRACT FROM AUTHOR]

With the rapid development of China's ice and snow industry, the use of snow-melting agents as a nonpoint source pollution source is increasing, and the impact on the environment cannot be ignored. This paper expounds the agent, purpose, mechanism, and current situation of snow-melting agents at home and abroad and analyzes the national standards, industry standards, and technical indicators of various provinces and cities. This paper puts forward the standard of snow-melting agents, standardizes the production management and detection method of snow-melting agents, improves the quality of snow-melting agent products, and solves the adverse effects of environmental pollution of snow-melting agents. In order to select an economical, effective, and environmentally friendly snow-melting agent application plan that is suitable for cold mountainous areas, the article proposes a TOPSIS method evaluation model with the purpose of source control combined with grey correlation. Calcium, magnesium chloride, chloride salt mixed snow-melting agent (1 : 1 : 1 ratio), and calcium and magnesium acetate are used to melt snow in four specific environments (high cold and high sensitivity, high cold and low sensitivity, low cold and high sensitivity, and low cold and low sensitivity). The pros and cons of the dosage regimen are evaluated. The combined weighting method is used to overcome the shortcomings of the individual subjective and objective weighting methods, and it is concluded that calcium and magnesium acetate is the optimal solution in high-cold and high-sensitivity areas, calcium chloride is the optimal solution in high-cold and low-sensitivity areas, and magnesium chloride is the optimal solution in low-cold and high-sensitivity areas. As the optimal solution, calcium chloride with low cold and low sensitivity is the optimal solution. [ABSTRACT FROM AUTHOR]

Background: Growing evidence indicates that poor sleep harms health. Early to bed and early to rise is considered as a healthy lifestyle in Chinese population. The current study aimed to examine the effects of sleep habits on acute myocardial infarction (AMI) risk and severity of coronary artery disease (CAD) in Chinese population from two centers.Methods: A total of 873 patients including 314 AMI cases and 559 controls were recruited from the inpatient cardiology department of the Affiliated Jiangning Hospital and the First Affiliated Hospital of Nanjing Medical University. 559 controls included 395 CAD cases and 164 non-CAD cases. We used a 17-item sleep factors questionnaire (SFQ) to evaluate sleep habits comprehensively by face-to-face interview. The severity of CAD was assessed by Gensini score in AMI and CAD groups. The effects of sleep factors on AMI risk and Gensini score were examined by unconditional logistic regression.Results: After mutually adjustment for other sleep factors and demographic characteristics, the timing of sleep (24:00 and after) and morning waking (after 7:00) and sleep duration (< 6 h) were associated with increased risk of AMI (OR = 4.005, P < 0.001, OR = 2.544, P = 0.011 and OR = 2.968, P < 0.001, respectively). Lower level of light exposure at night was correlated with reduced risk of AMI (OR = 0.243, P = 0.009). In subgroup analysis by age, both late sleep timing and short sleep duration were associated with increased risk of AMI regardless of age. In subjects with age ≤ 65 years, daytime napping was related to reduced risk of AMI (OR = 0.645, P = 0.046). In subjects with age > 65 years, the frequency of night-time waking (3 times) was associated with increased risk of AMI (OR = 3.467, P = 0.035). Short sleep duration was correlated with increased risk of high Gensini score (OR = 2.374, P < 0.001).Conclusion: Sleep insufficiency is an important risk factor both for AMI risk and CAD severity. Late sleeping is also associated with increased risk of AMI. In young and middle-aged people, regular naps may have a protective effect. [ABSTRACT FROM AUTHOR]

The Mars Mineralogical Spectrometer (MMS) is a hyperspectral imager onboard the Mars orbiter of Tianwen-1, China's first Mars exploration mission. MMS consists of 4 subassemblies: an Optical Sensor Unit (OSU), an Electronics Unit (EU), a Calibration Unit (CU), and a Thermal Control Accessories (TCA). With a 0.5 mrad IFOV and a 416-sample cell array for nadir observation, MMS can map the spectral and spatial information of the Martian surface through push-broom scanning, and it can transmit scientific data by hyperspectral mode or multispectral imaging mode through spatial and spectral combination. MMS can perform multi-sample hyperspectral imaging at full spectral resolution (0.379–1.076 μm with 2.73 nm/band, 1.033–3.425 μm at 7.5 nm/band, both spectral ranges at 2.1 km/pixel at 265 km). For the wavelength region of interest, the multispectral mapping mode provides additional options, a subset of 72 bands that are binned to minimum pixel footprints of 265 m/pixel. The major objective of the MMS is to analyze the compositions and distributions of the minerals on Martian surface, in order to characterize its evolution. [ABSTRACT FROM AUTHOR]

In patients with coronary heart disease undergoing primary prevention, hypertriglyceridemia is a residual risk for cardiovascular events. Omega‐3 carboxylic acid (OM3‐CA), a mixture of the free fatty acid forms of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), may be beneficial in reducing triglyceride levels. As part of the clinical development program of OM3‐CA in China, this phase I study evaluated the pharmacokinetics, safety, and tolerability profile of OM3‐CA in healthy subjects. The pharmacokinetic results of this study were also compared with those of available data for Western populations. Fourteen healthy Chinese subjects (aged 18‐45 years) received once‐daily oral OM3‐CA 4 g for 14 consecutive days. Pharmacokinetic parameters were assessed from both baseline‐uncorrected and baseline‐corrected plasma concentrations vs time profile of EPA, DHA, and EPA plus DHA. Following single and multiple oral doses of OM3‐CA, the absorption of EPA, DHA, and EPA plus DHA was steady with median tmax occurring at 5.5–6 hours after both single and multiple dosing. Close to steady‐state concentrations in plasma were reached after 14 days of continuous once‐daily dosing, and accumulation was confirmed for EPA, DHA, and EPA plus DHA. Of the 14 subjects treated with OM3‐CA, 6 (42.9%) reported at least 1 adverse event (diarrhea) during the study, which was determined as mild and treatment emergent. No serious adverse events were reported. In summary, the pharmacokinetic profile of oral OM3‐CA 4 g after single and multiple dosing in healthy Chinese subjects is consistent with that observed in other ethnic populations. [ABSTRACT FROM AUTHOR]

Aims and Objectives: The emergence and spread of extended-spectrum β-lactamases (ESBLs) particularly CTX-M producing multi-drug-resistant (MDR) Escherichia coli (E. coli) is one of the greatest challenges for community health globally. The study investigated the phenotypic and genotypic characteristics of ESBLs-producing E. coli recovered from pediatric patients from Shenzhen Children's Hospital, China. Materials and methods: Present study, a total of 2,670 isolates of E. coli were collected from Shenzhen Children's Hospital, China of which 950 were ESBLs producer. ESBLs production was confirmed by using the combination disc diffusion method, and antimicrobial susceptibility test was detected. In addition, β-lactamase-producing genes and co-existence of carbapenem/colistin resistance genes were determined by PCR assay and sequencing. The diversity and phylogenetic relationship were determined by multi-locus sequence typing method. Results: Thirty-five percent (n=950) prevalence of ESBLs-producing E. coli we reported in Shenzhen, China of which 50 ESBLs producing E. coli were randomly selected for a further characterization. All 50 ESBLs- producing E. coli isolates revealed MDR phenotype and 100% were resistant to Ampicillin/sulbactam, Ampicillin, Cefazolin, and Ceftriaxone. All 50 ESBLs producers harbored at least one type of β-lactamase gene particular blaCTX-M. The PCR and sequencing revealed the most common CTX-M subtype was blaCTX-M-15 (n=18), followed by blaCTX-M-14 (n=16), blaCTX-M-90 (n=9), blaCTX-M-55 (n=3), blaCTX-M-27, blaCTX-M-101, and blaCTX-M-211 each (n=1). Co-existence of blaCTX-M with blaTEM, blaSHV, blaGES, and blaVEB was detected in few isolates. Among identified sequence types, ST131 (12%) was more dominant in ESBLs-producing E. coli. Phylogenetic group A was the most prominent group among the ESBLs-producing E. coli based on multiplex PCR. Conclusion: Our study shows the prevalence of blaCTX-M gene in ESBLs-producing E. coli in pediatric patients in Shenzhen, China. We highlight the importance to monitor the emergence and trends of ESBLs-producing isolates in a pediatric healthcare setting. [ABSTRACT FROM AUTHOR]

Better insight into non-potable reclaimed water and drinking water can produce more reliable risk assessment and help to achieve sustainable water reuse in the long-term. This study illustrates the effectiveness of fluorescence excitation-emission matrix (EEM) for rapid cross-connection detection. Based on samples collected from three different sites of China, it is identified that the overall fluorescence intensity was 6–31 times of reclaimed to drinking water in water samples at all FRI regions. This is shown to be highly sensitive over conventional water quality parameters. Furthermore, based on parallel factor analysis (PARAFAC), humic acid and tryptophan are considered as the main components contributing to fluorescence both in secondary and tertiary effluents. Total fluorescence intensities as well as fluorescence peaks of EEM pairs were investigated. Under different mixing scenarios, it is found that the signal is distinguishable as low as 20% of reclaimed water. This study also offers possibility of exploring portable devices with identified fluorescence peaks in EEM regions for risk prevention and water quality monitoring at end user sites. [Display omitted] • Reclaimed and drinking water samples of different processes and sites were studied. • Different ratios of reclaimed water interfusion and detection limits were evaluated. • Fluorescence EEM is sensitive over bulk parameters for water quality variations. • Humic acid and tryptophan were identified in reclaimed water via PARAFAC modelling. • Characteristic EEM pairs can be considered for portable devices at end user sites. [ABSTRACT FROM AUTHOR]

Background: Emergence and spread of β-lactamase resistant Klebsiella pneumoniae have posed a serious threat, especially in paediatric patients globally. The present study focuses on explore drug resistance profile and molecular characterization of carbapenemase and extended-spectrum β-lactamase producing K. pneumoniae isolated from paediatric patients in Shenzhen, China. Methods: Present study, a total of 31 isolates of multi-drug resistant K. pneumoniae were collected from Shenzhen Children's Hospital, China during Jan 2014 to December 2015. ESBLs production was confirmed by using the combination disc diffusion method followed by antimicrobial susceptibility. In addition, β-lactamase encoding genes were determined by PCR assay and sequencing. The genotypic diversity and phylogenetic relationship were determined by multi-locus sequence typing (MLST) method and pulsed-field gel electrophoresis (PFGE). Results: We examined 31, unique K. pneumoniae isolates collected from 2014 and 2015 in Shenzhen Children's Hospital, China. All the 31 isolates 100% were resistant to ceftazidime, ertapenem, ampicillin, cefazolin and ampicillin-sulbactam followed by ceftriaxone 94% (n = 29), aztreonam 89% (n = 26), cefepime 84% (n = 26), nitrofurantoin 75% (n = 24), piperacillin 52% (n = 16), and levofloxacin 49% (n = 15). Of the 31 β-lactamase gene coding isolates, blaCTX-M was mainly detected in about 100% (n = 31), followed by blaKPC 71% (n = 22), blaSHV 61% (n = 19), blaNDM 25% (n = 8), blaCYM 13% (n = 4), blaOXA-48 9% (n = 3), blaGES 9% (n = 3) and blaTEM 6% (n = 2). Seventeen distinct sequences type were observed with ST20 being mostly identified 16% (n = 5). Pulsed-field gel electrophoresis (PFGE) typing showed that identical profile for the isolates recovered from the Department of Intensive Care Unit and Department of Neurology of our hospital. Plasmid replicon typing result indicates the presence of IncFIS type as highest in all isolates as 61% (n = 19), followed by IncFIB 23% (n = 7), IncFIA and IncFIC 16% (n = 5) each. Conclusion: Our study reports the occurrence and spread of extended β-lactamase K. pneumoniae ST20 and ST2407 for the first time, in Shenzhen, particularly in paediatric patients. To prevent and control the infection by limiting the spread of infection-causing organisms it is very crucial to detect the presence of resistant genes at an early stage. [ABSTRACT FROM AUTHOR]

Purpose: This population-based cross-sectional study describes self-harm (SH) behaviors and associated factors in 2898 Chinese left-behind children (LBC).Methods: Descriptive statistics were used to present and compare the distributional characteristics of SH behaviors. Binary and ordinal logistic-regression models for survey data were applied to explore associated factors of SH.Results: Among the LBC, 48% (95% CI: 42%-54%) reported SH behaviors. SH was prominently associated with suicidal ideation. Boys, junior high-school students, and LBC whose fathers were poorly educated were observed to have higher prevalence of SH. Boys, local ethnic minorities, junior high-school students, and LBC whose fathers were comparatively well educated were observed to be at increased risk of more medically serious SH behaviors.Conclusions: SH is a substantial public health problem among rural Chinese LBC. Targeted intervention measures should be developed to reduce future suicide risk. [ABSTRACT FROM AUTHOR]

This study presents Mg and Fe isotopic data for a suite of volcanic rocks including basalt, trachyte and comendite from Changbaishan, northeast China. Our results show that the Millennium Eruption (ME) trachytes and comendites have δ26Mg ranging from −0.37 to 0.14‰. Combined with literature data, the positive correlation between δ26Mg and 87Sr/86Sr ratios and the almost constant value for Nd isotopes suggest that the heavy Mg isotopic composition most likely derived from involvement of weathered products of basalt instead of the old supracrustal/basement rocks. Iron isotopic composition is significantly varied throughout our suite of samples, with δ56Fe values of 0.17 ± 0.04‰ and 0.16 ± 0.03‰ for basalts, 0.09 to 0.23‰ for cone-construction trachytes, and 0.23 to 0.37‰ for the ME samples. The slightly higher δ56Fe than MORB observed in basalts reflect the role of subducted materials that could elevate source Fe3+/ΣFe ratios via redox reaction. The trachytes from the cone construction, thought to be significantly affected by chemical weathered product, have a restricted Fe isotopic variation, while those ME samples with less weathered product input have overall higher δ56Fe values. This contrasting Fe isotopic signature suggests that the paleo-weathering event likely occurred under oxidized environment, leaving the residue with little Fe isotope fractionation. By contrast, the good correlations between Fe isotopes and indicators of magmatic differentiation (e.g., tFe 2 O 3 , SiO 2 , Mg#) in all rocks reflect that fractional crystallization under an open system most likely accounts for the Fe isotopic variation, which was enhanced by the compositional effect as suggested by the broadly positive relationship between δ56Fe and (Na + K)/(Ca + Mg). This study therefore highlights the potential applications of Mg Fe isotopes as great tracers of redox condition and ancient climate. [ABSTRACT FROM AUTHOR]

Background: There is growing interest in the joint effects of hazardous trace elements (HTEs) on lung function deficits, but the data are limited. This is a critical research gap given increased global industrialisation., Methods: A national cross-sectional study including spirometry was performed among 2112 adults across 11 provinces in China between 2020 and 2021. A total of 27 HTEs were quantified from urine samples. Generalised linear models and quantile-based g-computation were used to explore the individual and joint effects of urinary HTEs on lung function, respectively., Results: Overall, there were negative associations between forced expiratory volume in 1 s (FEV 1 ) and urinary arsenic (As) (z-score coefficient, -0.150; 95% CI, -0.262 to -0.038 per 1 ln-unit increase), barium (Ba) (-0.148, 95% CI: -0.258 to -0.039), cadmium (Cd) (-0.132, 95% CI: -0.236 to -0.028), thallium (Tl) (-0.137, 95% CI: -0.257 to -0.018), strontium (Sr) (-0.147, 95% CI: -0.273 to -0.022) and lead (Pb) (-0.121, 95% CI: -0.219 to -0.023). Similar results were observed for forced vital capacity (FVC) with urinary As, Ba and Pb and FEV 1 /FVC with titanium (Ti), As, Sr, Cd, Tl and Pb. We found borderline associations between the ln-quartile of joint HTEs and decreased FEV 1 (-20 mL, 95% CI: -48 to +8) and FVC (-14 mL, 95% CI: -49 to+2). Ba and Ti were assigned the largest negative weights for FEV 1 and FVC within the model, respectively., Conclusion: Our study investigating a wide range of HTEs in a highly polluted setting suggests that higher urinary HTE concentrations are associated with lower lung function, especially for emerging Ti and Ba, which need to be monitored or regulated to improve lung health., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Limb regeneration is a fascinating and medically interesting trait that has been well preserved in arthropod lineages, particularly in crustaceans. However, the molecular mechanisms underlying arthropod limb regeneration remain largely elusive. The Chinese mitten crab Eriocheir sinensis shows strong regenerative capacity, a trait that has likely allowed it to become a worldwide invasive species. Here, we report a chromosome-level genome of E. sinensis as well as large-scale transcriptome data during the limb regeneration process. Our results reveal that arthropod-specific genes involved in signal transduction, immune response, histone methylation, and cuticle development all play fundamental roles during the regeneration process. Particularly, Innexin2 -mediated signal transduction likely facilitates the early stage of the regeneration process, while an effective crustacean-specific prophenoloxidase system (ProPo-AS) plays crucial roles in the initial immune response. Collectively, our findings uncover novel genetic pathways pertaining to arthropod limb regeneration and provide valuable resources for studies on regeneration from a comparative perspective.

Phenotypic plasticity is a rapid response mechanism that enables organisms to acclimate and survive in changing environments. The Chinese mitten crab ( Eriocheir sinensis ) survives and thrives in different and even introduced habitats, thereby indicating its high phenotypic plasticity. However, the underpinnings of the high plasticity of E. sinensis have not been comprehensively investigated. In this study, we conducted an integrated gut microbiome and muscle metabolome analysis on E. sinensis collected from three different environments, namely, an artificial pond, Yangcheng Lake, and Yangtze River, to uncover the mechanism of its high phenotypic plasticity. Our study presents three divergent gut microbiotas and muscle metabolic profiles that corresponded to the three environments. The composition and diversity of the core gut microbiota (Proteobacteria, Bacteroidetes, Tenericutes, and Firmicutes) varied among the different environments while the metabolites associated with amino acids, fatty acids, and terpene compounds displayed significantly different concentration levels. The results revealed that the gut microbiome community and muscle metabolome were significantly affected by the habitat environments. Our findings indicate the high phenotypic plasticity in terms of gut microbiome and muscle metabolome of E. sinensis when it faces environmental changes, which would also facilitate its acclimation and adaptation to diverse and even introduced environments.

Background: Emergence and spread of β-lactamase resistant Klebsiella pneumoniae have posed a serious threat, especially in paediatric patients globally. The present study focuses on explore drug resistance profile and molecular characterization of carbapenemase and extended-spectrum β-lactamase producing K. pneumoniae isolated from paediatric patients in Shenzhen, China., Methods: Present study, a total of 31 isolates of multi-drug resistant K. pneumoniae were collected from Shenzhen Children's Hospital, China during Jan 2014 to December 2015. ESBLs production was confirmed by using the combination disc diffusion method followed by antimicrobial susceptibility. In addition, β-lactamase encoding genes were determined by PCR assay and sequencing. The genotypic diversity and phylogenetic relationship were determined by multi-locus sequence typing (MLST) method and pulsed-field gel electrophoresis (PFGE)., Results: We examined 31, unique K. pneumoniae isolates collected from 2014 and 2015 in Shenzhen Children's Hospital, China. All the 31 isolates 100% were resistant to ceftazidime, ertapenem, ampicillin, cefazolin and ampicillin-sulbactam followed by ceftriaxone 94% (n = 29), aztreonam 89% (n = 26), cefepime 84% (n = 26), nitrofurantoin 75% (n = 24), piperacillin 52% (n = 16), and levofloxacin 49% (n = 15). Of the 31 β-lactamase gene coding isolates, bla CTX-M was mainly detected in about 100% (n = 31), followed by bla KPC 71% (n = 22), bla SHV 61% (n = 19), bla NDM 25% (n = 8), bla CYM 13% (n = 4), bla OXA-48 9% (n = 3), bla GES 9% (n = 3) and bla TEM 6% (n = 2). Seventeen distinct sequences type were observed with ST20 being mostly identified 16% (n = 5). Pulsed-field gel electrophoresis (PFGE) typing showed that identical profile for the isolates recovered from the Department of Intensive Care Unit and Department of Neurology of our hospital. Plasmid replicon typing result indicates the presence of IncFIS type as highest in all isolates as 61% (n = 19), followed by IncFIB 23% (n = 7), IncFIA and IncFIC 16% (n = 5) each., Conclusion: Our study reports the occurrence and spread of extended β-lactamase K. pneumoniae ST20 and ST2407 for the first time, in Shenzhen, particularly in paediatric patients. To prevent and control the infection by limiting the spread of infection-causing organisms it is very crucial to detect the presence of resistant genes at an early stage.

In neonates, congenital factor VII deficiency (FVIID) is characterized by central nervous system bleeding and gastrointestinal hemorrhage, often resulting in poor prognosis and high mortality.To improve understanding of FVIID in neonates in Asia, we retrospectively analyzed the clinical manifestations, diagnosis, treatment, clinical course, and genetic diagnosis of 2 cases of neonatal FVIID in the Department of Neonatology, Guangzhou Women and Children's Medical Center, Guangzhou, China, from January 2007 to December 2017 and performed a review of the relevant literature.Both neonates were female and presented with severe gastrointestinal tract and intracranial hemorrhage. The laboratory findings were characterized by repeated and non-vitamin K1-dependent prolonged of the prothrombin time (PT), Factor VII (FVII) activity was 1.5% and 3%, respectively. Both neonates died of severe intracranial hemorrhage, at 31 days and 6 months after birth, respectively. Gene sequencing results revealed a homozygous mutation in the FVII gene splice site (IVS7+1G>T) in both cases. Upon review of relevant literature published since 1996, we identified 19 cases of neonatal FVIID. The patients were full-term neonates with onset of symptoms mostly within 7 days after birth (73.7%), which included gastrointestinal bleeding (blood stool, vomiting blood; 31.6%), nervous system signs (drowsiness, convulsions, poor response; 26.3%), severe intracranial hemorrhage (84.2%), significantly prolonged PT with significantly decreased FVII activity (89.5%), high mortality, and disability (68.4%). Gene sequencing was performed in 9 of the 19 children evaluated and revealed a mutation in the FVII gene in all cases.FVIID can be clinically diagnosed based on the presence of prolonged PT that is difficult to correct and significantly decreased FVII activity (≤5%). As mutations in some sites are associated with severe bleeding, genetic diagnosis represents a useful tool for prenatal diagnosis of FVIID. In brief, we should pay great attention to the FVIID onset of the neonatal period, although it is rare but result in life-threatening bleeding with poor prognosis.

Multidrug-resistant Mycobacterium tuberculosis (MDR-TB) is a severe health threat to human beings; however, the epidemic and molecular characteristics exist along with the change in the geographic environment and genealogy. Jiangxi province is located in southeast China, which is a high-MDR-TB burden area. Rifampin (RIF) and isoniazid (INH) are the most important first-line anti-tuberculosis drugs. The major drug target genes include rpoB for RIF and katG, inhA, and ahpC for INH. To determine the frequency and distribution of mycobacterial mutations in these genes, we sequenced specific genes of M. tuberculosis that are associated with resistance to RIF and INH in 157 phenotypic MDR isolates. At the same time, RD105 DTM-PCR and 15 loci MIRU-VNTR were performed to demonstrate the genetic lineage. It was shown that the Beijing genotype was predominant (84.1%) among these strains. The results also showed mutations within the 81 bp core region of rpoB in 93.6% of strains and mutations in a structural gene (katG) and two regulatory regions (the promoter of inhA and intergenic region of oxyR-ahpC) were shown in 88.5% of phenotypic MDR isolates. There were no significant differences in codon mutations between the Beijing and non-Beijing genotypes, as well as the clustered and no-clustered strains. The most prevalent mutations involved in RIF and INH were Ser531Leu in rpoB (55.4%) and Ser315Thr in KatG (56.1%), respectively. There was no significant difference in RIF and INH resistance between MDR-TB and other drug-resistant tuberculosis (DR-TB). The results demonstrated that some MDR-TB patients are predicted to have recent transmission.

A novel avian influenza A (H7N9) virus caused 5-10 % mild and 30.5 % fatal human infections as of December 10, 2015. In order to investigate the reason for the higher rate of fatal outcome of this infection, this study compared the molecular epidemiology and virology of avian influenza A (H7N9) viruses from mild (N = 14), severe (N = 50) and fatal (N = 35) cases, as well as from non-human hosts (N = 73). The epidemiological results showed that the average age of the people in the mild, severe and fatal groups was 27.6, 52 and 62 years old, respectively (p < 0.001). Males accounted for 42.9 % (6/14), 58.0 % (29/50), and 74.3 % (26/35) of cases in the mild, severe and fatal group respectively (p = 0.094). Median days from onset to start of antiviral treatment were 2, 5 and 7 days in the mild, severe and fatal group, respectively (p = 0.002). The median time from onset to discharge/death was 12, 40 and 19 days in the mild, severe and fatal group, respectively (p < 0.001). Analysis of whole genome sequences showed that PB2 (E627K), NA (R294K) and PA (V100A) mutations were markedly associated with an increased fatality rate, while HA (N276D) and PB2 (N559T) mutations were clearly related to mild cases. There were no differences in the genotypes, adaptation to mammalian hosts, and genetic identity between the three types of infection. In conclusion, advanced age and delayed confirmation of diagnosis and antiviral intervention were risk factors for death. Furthermore, PB2 (E627K), NA (R294K) and PA (V100A) mutations might contribute to a fatal outcome in human H7N9 infection.

γ-Glutamyl hydrolase (GGH) plays a central role in folate metabolism and antifolate action. Polymorphism in the human GGH gene (GGH) was associated with efficacy and side effects of methotrexate for treatment of acute lymphoblastic leukemia (ALL). This study aimed to identify polymorphisms of GGH in Chinese. Seventy-one children with ALL, 25 children with acute myeloid leukemia (AML), and 132 children with nonmalignancy as control were included. Human GGH cDNAs were prepared and analyzed by reverse transcriptase-polymerase chain reaction (RT-PCR)-denaturing gradient gel electrophoresis. The detected variants were further confirmed by DNA sequencing. Novel variant GGH cDNA was cloned, expressed, and characterized. Allelic frequency of GGH 452C→T polymorphism was determined as 9.2% (CT, 11/71; TT, 1/71) in the ALL group, 8.0% (CT, 4/25; TT, 0/25) in the AML group, and 9.1% (TT, 4/132; T/C, 16/132) in the controls, respectively. The total allelic frequency in the Chinese population (9.0%) was higher than those reported in Japanese (5.6%) and African Americans (4.4%), and was similar to Caucasians (10.0%). Association of 452TT+TC with increased rate of hepatotoxicity and mucositis was observed in the ALL patients. Two novel mutations were determined in the coding region of GGH in 2 boys with ALL: one of the mutations was a double nonsynonymous heterozygote (841AG+845AG, K257E/N258S), the other was a nonsynonymous heterozygote (797AG, K242R). The corresponding double-mutant protein showed unchanged enzymatic activity by functional analysis. Allele frequency of GGH C452T polymorphism is determined for the first time among Chinese. A novel double nonsynonymous mutation of GGH was identified in a boy with ALL.

Hereditary deficiency in human glucose-6-phosphate dehydrogenase (G6PD) is mostly caused by single nucleotide change in the G6PD gene which leads to single amino acid substitution. In 104 cases of Chinese children with G6PD deficiency, RT-PCR-DGGE (denaturing gradient gel electrophoresis) combined with DNA sequencing was carried out to screen the mutations within the coding region of G6PD gene. A novel missense mutation (G473A), predicting a Cys-to-Tyr substitution at codon 158, was identified in a male infant patient and confirmed in his mother. This G6PD variant (158 Tyr) showed decreased enzyme activity, belonging to WHO Class II. We designated this variant as G6PD Shenzhen by the birthplace of the propositus., ((c) 2010 Wiley-Liss, Inc.)