Associations of insulin sensitivity and immune inflammatory responses with child blood lead (Pb) and PM2.5 exposure at an e-waste recycling area during the COVID-19 lockdown.

Fine particular matter (PM2.5) and lead (Pb) exposure can induce insulin resistance, elevating the likelihood of diabetes onset. Nonetheless, the underlying mechanism remains ambiguous. Consequently, we assessed the association of PM2.5 and Pb exposure with insulin resistance and inflammation biomarkers in children. A total of 235 children aged 3-7 years in a kindergarten in e-waste recycling areas were enrolled before and during the Corona Virus Disease 2019 (COVID-19) lockdown. Daily PM2.5 data was collected and used to calculate the individual PM2.5 daily exposure dose (DED-PM2.5). Concentrations of whole blood Pb, fasting blood glucose, serum insulin, and high mobility group box 1 (HMGB1) in serum were measured. Compared with that before COVID-19, the COVID-19 lockdown group had lower DED-PM2.5 and blood Pb, higher serum HMGB1, and lower blood glucose and homeostasis model assessment of insulin resistance (HOMA-IR) index. Decreased DED-PM2.5 and blood Pb levels were linked to decreased levels of fasting blood glucose and increased serum HMGB1 in all children. Increased serum HMGB1 levels were linked to reduced levels of blood glucose and HOMA-IR. Due to the implementation of COVID-19 prevention and control measures, e-waste dismantling activities and exposure levels of PM2.5 and Pb declined, which probably reduced the association of PM2.5 and Pb on insulin sensitivity and diabetes risk, but a high level of risk of chronic low-grade inflammation remained. Our findings add new evidence for the associations among PM2.5 and Pb exposure, systemic inflammation and insulin resistance, which could be a possible explanation for diabetes related to environmental exposure.

Kindergarten dust heavy metal(loid) exposure associates with growth retardation in children.

Heavy metal contamination from electronic waste recycling sites is present in dust found in indoor kindergartens located in e-waste recycling areas, and its potential impact on child health is a significant concern. The association between heavy metal(loid)s and the child developmental indicators is still unclear. In 2019 and 2020, we enrolled 325 and 319 children in an e-waste recycling town, respectively. Corresponding 61 and 121 dust samples were collected from roads, houses, and kindergartens in the two years. The median concentrations of metals, including Cr, Ni, Cu, Zn, and Pb exceeded the allowable limits. The highest amount of cumulative enrichment (cEF) was observed in indoor kindergarten dust (cEF = 112.3400), followed by house dust (cEF = 76.6950) and road dust (cEF = 39.7700). Children residing in the e-waste town had below-average height and weight compared to their Chinese peers. Based on linear regression analysis, the daily intake of Cd, V, Mn, and Pb in indoor kindergarten dust was found to be negatively associated with head circumference (HeC) (P < 0.05). Similarly, the daily intake of As, Cd, and Ba in indoor kindergarten dust was found to be negatively associated with chest circumference (ChC) (P < 0.05). In addition, the daily intake of As, Cd, and Ba in indoor kindergarten dust was negatively correlated with body mass index (BMI), as per the results of the study (P < 0.05). Cross-product term analysis revealed a negative correlation between daily intake of heavy metal(loid)s and HeC, ChC, and BMI, with age and sex serving as influencing factors. In conclusion, exposure to heavy metal(loid)s in indoor kindergarten dust increases the risk of growth retardation and developmental delay in children.

A retrospective study of air quality associated with teratogenic pathogen screening in women of reproductive age in southern China.

Adverse pregnancy outcomes are associated with a poor ambient atmospheric environment. Infections by teratogenic pathogens such as cytomegalovirus (CMV) and herpes simplex virus (HSV) are the main cause of the worse pregnant outcomes. However, environmental factors governing these infections are uncertain and epidemiological studies are limited. An epidemiological study on relationships between air pollutants and antibodies against teratogenic pathogens will be explored. In total, 5475 women of childbearing age were enrolled in the study between January 2018 and December 2019 in a hospital in Shantou, China. Antibodies against pathogens were measured by electrochemical luminescence. Everyday air quality data, concerning particulate matter (PM), sulfur dioxide (SO2), nitrogen dioxide (NO2), and other parameters, were acquired from a government web site, and the relationships between them were evaluated with nonparametric and multivariate linear regression analyses. Not only titers of herpes simplex virus HSV(I+II) IgGs in spring, but also titers of cytomegalovirus IgG (CMV IgG) and HSV I IgG in autumn, both had positive associations with concentrations of SO2. When PM2.5 or PM10 exposure is elevated, HSV(I+II) IgGs, TOX IgM should be paid more attention in spring or summer. Air pollution may be crucial for teratogenic pathogen infections. This study highlights air pollution could increase the risk of teratogenic pathogen infection, implying stronger measures should be taken to protect air environment and screenings of associated antibody should be strengthened in different season.

Clinical validation of a single-tube PCR and reverse dot blot assay for detection of common α-thalassaemia and ß-thalassaemia in Chinese.

OBJECTIVE: To evaluate a novel reverse dot blot assay for the simultaneous detection six types of common α-thalassaemia alleles (three deletional and three common non-deletional mutations) and 19 types of common ß-thalassaemia alleles in a Chinese population. METHODS: Genomic DNA samples were collected from three hospitals in southern China. The novel thalassaemia gene assay involved one multiplex polymerase chain reaction amplification system and one round of hybridization. Each of the clinically validated DNA samples was re-tested using the new multiplex polymerase chain reaction/reverse dot blot assay II (M-PCR/RDB II) assay in a double-blind manner. RESULTS: A total of 1060 unrelated study participants, including 829 patients with thalassaemia and 231 healthy control subjects, were analysed. The whole PCR and RDB procedures were completed in 260 min. All the samples, including heterozygous thalassaemia, homozygous thalassaemia and compound heterozygous thalassaemia, were correctly genotyped, yielding 100% concordance with the reference assays. HKαα/--SEA and HKαα/-α4.2, which were not included in the detection panel, yielded a contradictory result with this new assay. CONCLUSION: The novel M-PCR/RDB II assay was simple, rapid and accurate, suggesting that it could be used for the genetic screening and clinical diagnosis of common α-thalassaemia and ß-thalassaemia variants in Chinese populations.

Assessment of dust trace elements in an e-waste recycling area and related children's health risks.

Children from Guiyu, an electronic waste (e-waste) recycling town, are exposed to trace elements via dust. However, the source, pathways, and influence factors of house dust and the association of house dust with child inflammation in an e-waste recycling area are not well-known. This study investigated dust trace elements in children's living environment and the associations of house dust trace elements with influence factors and child inflammation. A total of 108 dust samples from children's residences, roads, and kindergartens in Guiyu (an exposed area) and Haojiang and Shantou urban areas (reference areas) were collected and analyzed, as well as children's questionnaire data. The Mann-Whitney U test found there were higher trace element concentrations in road dust (Co, Ni, and Cu), kindergarten dust (Al, V, Mn, Co, Ni, and Zn), and house dust (V, Co, Cu, As, and Cd) in Guiyu than in Haojiang and Shantou urban areas (P < 0.05). Our analysis showed that house dust and road dust have similar distribution patterns of trace elements. Spearman's correlations showed close relationships among quantities of trace elements (P < 0.05). Higher trace element concentrations in dust were found in houses that used indoor shoe cabinets and opened windows frequently (P < 0.05). In houses of children with airway inflammation, higher dust Ba concentrations were found (P < 0.05), and if their fathers did not work with e-waste, we found higher dust Pb concentrations (Mann-Whitney U test, P < 0.05). Health assessments showed a high risk of exposure through ingestion and an acceptable risk of exposure through inhalation of dust trace elements for children. However, relationships between airway inflammation and house dust trace elements showed the inhalation risk might be underestimated. This study suggests trace element exposure via dust poses a health risk for children living in e-waste recycling areas.

High serum IgG subclass concentrations in children with e-waste Pb and Cd exposure.

Immunoglobulin G (IgG) is the predominant component of the humoral immune system. Epidemiological studies have shown that lead (Pb) or cadmium (Cd) exposure is associated with changes in human IgG levels, and alteration of IgG subclass production can be induced by differential modulation of Th1 and Th2 cytokines caused by Pb or Cd exposure. However, no study has focused on the adverse effects of Pb and Cd co-exposure on IgG subclass production by regulating Th1/Th2 cytokines in children living in electronic waste (e-waste) areas. This study aims to analyze the associations among Pb and Cd in blood, Th1/Th2 cytokines, and IgG subclasses in serum from children. A total of 181 healthy, 2- to 7-year-old children were examined. Of them, 104 were from Guiyu (e-waste exposed group), and the rest were from Haojiang (reference group) in China. Pb and Cd levels in whole blood, cytokines, and IgG subclasses in serum were determined. Exposed children had higher levels of blood Pb and Cd, serum IgG1, IgG1 + IgG2, serum Th1 cytokine interferon-γ (IFN-γ) and lower levels of the Th2 cytokine interleukin (IL)-13. Increased blood Pb levels were positively associated with serum levels of IFN-γ, and negatively associated with serum levels of IL-13. Adjusted linear regression analysis showed that serum levels of IL-13 were negatively associated with serum levels of IgG1 and IgG1 + IgG2. Mediation models indicated that IL-13 had significant mediating effects on the relationships between blood Pb levels and serum IgG1, as well as between blood Pb levels and serum IgG1 + IgG2. Increased blood Cd levels were positively associated with serum levels of IgG1. Our results show heavy metal (particularly Pb) exposure may affect IgG subclass production by regulating Th1/Th2 cytokines in exposed children, thus providing new evidence for a relationship between humoral immune function and environmental exposure.

Antioxidant alterations link polycyclic aromatic hydrocarbons to blood pressure in children.

Exposure to polycyclic aromatic hydrocarbons (PAHs) is associated with changes in blood pressure. However, the association is controversial in different studies, and antioxidants' roles involved in it remain unclear. To investigate the associations among PAH exposure, blood pressure, and antioxidant concentrations, we recruited 403 children (2-7 years old), of which 203 were from Guiyu, an e-waste-recycling area (exposed group), and 200 were from Haojiang, a nearby non-e-waste area (reference group). Levels of blood pressure, plasma vitamin E, serum superoxide dismutase (SOD), serum glutathione peroxidase (GPx), and eight urinary hydroxylated PAHs (OH-PAHs) were measured. Compared with Haojiang children, Guiyu children had higher urinary OH-PAH concentrations but lower systolic pressure, pulse pressure, serum SOD concentration, and serum GPx concentration (all P < 0.05). PAH exposure was associated with lower systolic pressure, pulse pressure, SOD (adjusted ß = -0.091, -0.104 and -0.154, respectively, all P < 0.05, in all children), GPx (adjusted ß∑7LMW-OH-PAHs-T3 = -0.332, only in Haojiang children) and vitamin E (adjusted OR∑7LMW-OH-PAHs = 0.838, 95% CI: 0.706, 0.995, only in Guiyu children). Serum SOD and GPx were associated with higher blood pressure (ßSOD-T2 for diastolic pressure = 0.215 in all children, ßSOD-T3 for systolic pressure = 0.193 in all children, ßSOD-T3 for pulse pressure = 0.281 in high-∑8OH-PAHs children, ßGPx-T2 = 0.283 and ßGPx-T3 = 0.289 for diastolic pressure in Haojiang children, all P < 0.05). Interactions between PAHs and vitamin E were associated with lower systolic pressure and pulse pressure; simple effects of vitamin E to raise systolic pressure and pulse pressure were only significant in low-∑8OH-PAHs children. Our results indicate that PAH exposure, especially at high levels, and further antioxidant-decrease are potential risk factors for blood-pressure decrease in children; vascular function of PAH-exposed children may be impaired, manifesting as disordered blood pressure.

Association of prenatal exposure to PAHs with anti-Müllerian hormone (AMH) levels and birth outcomes of newborns.

BACKGROUND: Polycyclic aromatic hydrocarbons (PAHs) are chemicals that cause serious concerns because of their carcinogenicity and endocrine disrupting ability. OBJECTIVE: In the current study, we studied how urinary PAH metabolites are related with the dose-effects of hormone levels and birth outcomes. METHOD: 163 pregnant women without health problems and 163 newborns were enrolled in hospitals in Guiyu (e-waste-exposed area) and Haojiang (reference area) from May 2016 to May 2017. Urine samples were collected to measure hydroxylated PAH (OH-PAH) metabolite levels. Umbilical cord blood was used for measurement of hormone levels. Anthropometric parameters of newborns, such as anogenital distance (AGD), were also measured. RESULTS: Eight of ten urinary PAH metabolites in the exposed group were significantly higher than in the reference group. Levels of umbilical cord serum estradiol (E2) and testosterone (T) in the exposed group were significantly lower than those in the reference group. Birth weight was positively correlated with 2-OHFlu (2-hydroxyfluorene). Head circumference was negatively correlated with 9-OHFlu, 3-OHPhe (3-hydroxyphenanthrene), 9-OHPhe, and Æ©OHFlu (sum of 2-OHFlu and 9-OHFlu). Serum E2 and T levels were negatively correlated with most OH-PAHs. In addition, we found that serum anti-Müllerian hormone (AMH) level was positively correlated with AGD, and serum E2 level was negatively correlated with neonatal head circumference. CONCLUSIONS: PAH exposure in pregnant women may adversely affect the birth outcomes of newborns, especially AGD; and AMH may be involved in the process. Establishing a baseline for the relationship between PAH exposure and health is important to protect the health of mothers and children living in electronic waste (e-waste) recycling areas.

Birth outcomes associated with maternal exposure to metals from informal electronic waste recycling in Guiyu, China.

BACKGROUND: Informal electronic waste (e-waste) recycling is a rapidly growing industry. Informal e-waste recycling creates a mixture of chemicals that can be harmful to humans, especially vulnerable populations like pregnant women and young children. OBJECTIVES: We aimed to analyze the associations between birth outcomes and living in a community with a history of informal e-waste recycling. METHODS: The e-waste Recycling Exposure and Community Health (e-REACH) Study enrolled pregnant women in Guiyu, an informal e-waste recycling site (n = 314), and an unexposed control site (Haojiang) (n = 320) at delivery. We analyzed maternal whole blood samples for lead (Pb), cadmium (Cd), chromium (Cr), and manganese (Mn). We captured data in newborns on birth weight, birth length, head circumference, body mass index (BMI), and Ponderal Index (PI). We compared the birth outcomes between sites after adjustment for covariates, and examined the associations with individual and the mixture of metals. RESULTS: The neonates from Guiyu had smaller head circumference (adj ß -1.96 cm, 95% CI -2.39, -1.52), BMI (adj ß -0.77 kg/m2, 95% CI -1.03, -0.51), and PI (adj ß -2.01 kg/m3, 95% CI -2.54, -1.47). Birth weights were lower in Guiyu compared to Haojiang, but the difference was not significant (ß -51, 95% CI -132, 29). Cumulative exposure to metals was related to lower head circumference, BMI, and PI, but not related to birth weight. DISCUSSION: We observed slight and statistically significant differences in the head size, BMI, and PI of neonates, but not birth weight, from Guiyu when compared to neonates from Haojiang. Cumulative metal exposure may partially account for the findings.

Cardiovascular endothelial inflammation by chronic coexposure to lead (Pb) and polycyclic aromatic hydrocarbons from preschool children in an e-waste recycling area.

Lead (Pb) and polycyclic aromatic hydrocarbon (PAH) exposure is positively associated with cardiovascular disease (CVD), and the possible potential mechanism may be caused by damage to the endothelium by modulation of inflammatory processes. No comprehensive research shows co-exposure of Pb and PAH on cardiovascular endothelial inflammation in electronic waste (e-waste) exposed populations. Given this, the aim of this study is to provide evidence for a relationship between Pb and PAH co-exposure and cardiovascular endothelial inflammation, in an e-waste-exposed population, to delineate the link between a potential mechanism for CVD and environmental exposure. We recruited 203 preschool children (3-7 years) were enrolled from Guiyu (e-waste-exposed group, n = 105) and Haojiang (reference group, n = 98). Blood Pb levels and urinary PAH metabolites were measured. Percentages of T cells, CD4+ T cells and CD8+ T cells, complete blood counts, endothelial inflammation biomarker (serum S100A8/A9), and other inflammatory biomarkers [serum interleukin (IL)-6, IL-12p70, gamma interferon-inducible protein 10 (IP-10)] levels were evaluated. Blood Pb, total urinary hydroxylated PAH (ΣOHPAH), total hydroxynaphthalene (ΣOHNap) and total hydroxyfluorene (ΣOHFlu) levels, S100A8/A9, IL-6, IL-12p70 and IP-10 concentrations, absolute counts of monocytes, neutrophils, and leukocytes, as well as CD4+ T cell percentages were significantly higher in exposed children. Elevated blood Pb, urinary 2-hydroxynaphthalene (2-OHNap) and ΣOHFlu levels were associated with higher levels of IL-6, IL-12p70, IP-10, CD4+ T cell percentages, neutrophil and monocyte counts. Mediator models indicated that neutrophils exert the significant mediation effect on the relationship between blood Pb levels and S100A8/A9. IL-6 exerts a significant mediation effect on the relationship between blood Pb levels and IP-10, as well as the relationship between urinary ΣOHFlu levels and IP-10. Our results indicate that children with elevated exposure levels of Pb and PAHs have exacerbated vascular endothelial inflammation, which may indicate future CVD risk in e-waste recycling areas.

Ambient fine particulate matter inhibits innate airway antimicrobial activity in preschool children in e-waste areas.

Ambient fine particulate matter (PM2.5) is a risk factor for respiratory diseases. Previous studies suggest that PM2.5 exposure may down-regulate airway antimicrobial proteins and peptides (AMPs), thereby accelerating airway pathogen infection. However, epidemiological research is scarce. Hence, we estimated the associations between individual PM2.5 chronic daily intake (CDI) and the levels of the airway AMP salivary agglutinin (SAG), as well as peripheral leukocyte counts and pro-inflammatory cytokines, of preschool children in Guiyu (an e-waste area) and Haojiang (a reference area located 31.6 km to the east of Guiyu). We recruited 581 preschool children from Guiyu and Haojiang, of which 222 were included in this study for a matching design (Guiyu: n = 110 vs. Haojiang: n = 112). Air PM2.5 pollution data was collected to calculate individual PM2.5 CDI. The mean concentration of PM2.5 in Guiyu was higher than in Haojiang, resulting in a higher individual PM2.5 CDI. Concomitantly, saliva SAG levels were lower in Guiyu children (5.05 ng/mL) than in Haojiang children (8.68 ng/mL), and were negatively correlated with CDI. Additionally, peripheral counts of white blood cells, and the concentrations of interleukin-8 and tumor necrosis factor-alpha, in Guiyu children were greater than in Haojiang children, and were positively associated with CDI. Similar results were found for neutrophils and monocytes. To our knowledge, this is the first study on the relationship between PM2.5 exposure and innate airway antimicrobial activity in children, in an e-waste area, showing that PM2.5 pollution may weaken airway antimicrobial activity by down-regulation of saliva SAG levels, which might accelerate airway pathogen infection in children.

Metal concentrations in pregnant women and neonates from informal electronic waste recycling.

Electronic waste (e-waste) is the fastest growing solid waste stream worldwide and mostly ends up in developing countries where residents use primitive methods for recycling. The most infamous e-waste recycling town, Guiyu in Southeast China, has been recycling since the mid-1990s. E-waste contains several harmful chemicals, including lead (Pb), cadmium (Cd), chromium (Cr), and manganese (Mn). In 2011-12, the e-waste Recycling Exposures and Community Health (e-REACH) Study enrolled 634 pregnant women living in Guiyu and Haojiang, a control site, both in Shantou, China. The women completed a questionnaire and gave maternal blood, cord blood, and maternal urine, which were analyzed for Pb, Cd, Cr, and Mn. Maternal blood Pb, Cd, and Cr concentrations were significantly higher in Guiyu compared to Haojiang. In Guiyu, the geometric mean of Pb concentration in maternal blood was 6.66 µg/dL (range: 1.87-27.09 µg/dL) and was 1.74-fold greater than in Haojiang (95% CI: 1.60, 1.89). In cord blood, Pb concentration was 1.53-fold higher in Guiyu (95% CI: 1.38, 1.68). In maternal urine, Cd (ratio: 2.15, 95% CI: 1.72, 2.69) and Mn (ratio: 2.60, 95% CI: 2.04, 3.31) concentrations were significantly higher in Guiyu in comparison to Haojiang. In conclusion, pregnant women in Guiyu were at risk for increased exposure to heavy metals.

Maternal urinary cadmium levels during pregnancy associated with risk of sex-dependent birth outcomes from an e-waste pollution site in China.

This study was to investigate whether exposure to cadmium (Cd) during pregnancy is associated with an increased risk of adverse birth outcomes in a sex-dependent manner. Cd concentrations in maternal urine (U-Cd) samples were measured in 237 subjects from Guiyu (e-waste area) and 212 subjects from Haojiang. A significance level of p <0.05 was used for all analyses. The maternal U-Cd levels in Guiyu residents were significantly higher than Haojiang. We found significant inverse associations between U-Cd concentrations and birth anthropometry (birth weight, birth length, Head Circumference and Apgar scores with 1min and 5 mins) in female neonates, but no significant associations were observed in male neonates except Apgar (1min) score after adjustment. The association was more pronounced among female neonates than male neonates, suggesting an association between Cd and adverse birth outcomes may be sex-specific.

Prevalence of HIV and malaria: a cross-sectional study on Bioko Island, Equatorial Guinea.

Malaria and HIV are two of the most severe public health problems in Africa. However, epidemiological data on Bioko Island is scarce. To investigate the prevalence of malaria and HIV infections and assess association of malaria and HIV infections and possible confounding factors, we performed a cross-sectional survey of people of malaria-endemic Bioko Island, Equatorial Guinea. A cross-sectional study of 1 526 subjects was carried out to determine the prevalence of malaria and HIV infection in Malabo region hospital on Bioko Island. Questionnaires were administered and venous blood samples were drawn for malaria parasites and HIV detection. The prevalence of participants infected with malaria and HIV in this area were 13.8% and 6.6% respectively. The average prevalence of co-infection for malaria and HIV was 0.92%. HIV-infection was significantly associated with the age and gender. Malaria infections were significantly associated with the age. This study showed that the prevalence of HIV and malaria on Bioko Island was higher than expected, although the co-infection prevalence of malaria and HIV was low. The results also indicated that malaria and HIV infections lead to more public health risk to youngsters and women.

Thyroid Hormone Status in Umbilical Cord Serum Is Positively Associated with Male Anogenital Distance.

CONTEXT: In human adults and adolescents, thyroid function affects sex hormones and male reproductive functions. Little is known about the thyroid function effects on the gonadal development in human infants. OBJECTIVE: The aim was to examine the association between thyroid hormones (THs) and sexually dimorphic genital development or fetal growth. DESIGN: This is a birth cohort study. PARTICIPANTS: A total of 616 mothers and newborns were analyzed from two local hospitals. MAIN OUTCOME MEASURES: TSH, free T3 (FT3), and free T4 (FT4) levels in cord blood serum, anogenital distance (AGD), birth weight, birth length, birth body mass index, and head circumference in neonates. RESULTS: Longer AGD in male newborns was observed with higher cord serum FT3 (ß, 1.36 mm [95% confidence interval (CI), 0.58-2.13] for 1 pmol/L FT3), FT4 (ß, 0.12 mm [95% CI, 0.00-0.25] for 1 pmol/L FT4), and TSH (ß, 3.14 mm [95% CI, 0.65-5.63] for a 10-fold TSH increase), and with a lower FT4/FT3 ratio (ß, -0.11 mm [95% CI, -0.20 to -0.02] for doubling FT4/FT3 ratio). The relationships between TSH, birth weight, and birth length were different by secondhand smoke exposure. Secondhand smoke exposure had an effect modification, with interaction P value .039 and .010, respectively. Secondhand smoke exposure also had an effect modification on the relation between FT4 and head circumference with interaction P value .020. CONCLUSIONS: In the absence of overt thyroid dysfunction, THs are positively associated with AGD in male newborns. TH effects on body size and head circumference may be modified by maternal secondhand smoke exposure.

Molecular Epidemiological Characterization and Health Burden of Thalassemias in the Chaoshan Region, People's Republic of China.

Thalassemia is one of the most prevalent inherited disease in southern China. However, there have been only a few epidemiological studies of thalassemia in the Chaoshan region of Guangdong Province, People's Republic of China (PRC). A total of 6231 unrelated subjects in two main geographical cities of the Chaoshan region was analyzed for thalassemia. Seven hundred and thirty-six cases of suspected thalassemia carriers with microcytosis [mean corpuscular volume (MCV) <82.0 fL] were found by complete blood cell (CBC) count, and were tested by reverse dot-blot gene chip to reveal a total of 331 mutant chromosomes, including 278 α-thalassemia (α-thal) alleles and 53 ß-thalassemia (ß-thal) alleles. The most common α-thal mutations were the Southeast Asian (- -(SEA)), followed by the -α(3.7) (rightward) and -α(4.2) (leftward) deletions. The two most common ß-thal mutations were HBB: c.316-197C>T and HBB: c.126_129delCTTT, accounting for 69.81% of the ß-thal defects in the studied individuals. In addition, a rare mutation, Cap +1 (A>C) (HBB: c.-50A>C) was described for the first time in the Chaoshan region. Our results gave a heterozygote frequency of 5.31% for common α- and ß-thal in the Chaoshan region, and also indicated a higher prevalence of thalassemia with a heterozygote frequency of 6.29% in Chaozhou, followed by Shantou (3.37%). This study provided a detailed prevalence and molecular characterization of thalassemia in the Chaoshan region, and will be valuable for developing a strategy for prevention of thalassemia and reducing excessive health care costs in this area.

Heavy metals in PM2.5 and in blood, and children's respiratory symptoms and asthma from an e-waste recycling area.

This study was to investigate the levels of heavy metals in PM2.5 and in blood, the prevalence of respiratory symptoms and asthma, and the related factors to them. Lead and cadmium in both PM2.5 and blood were significant higher in Guiyu (exposed area) than Haojiang (reference area) (p < 0.05), however, no significant difference was found for chromium and manganese in PM2.5 and in blood. The prevalence of cough, phlegm, dyspnea, and wheeze of children was higher in Guiyu compared to Haojiang (p < 0.05). No significant difference was found for the prevalence of asthma in children between Guiyu and Haojiang. Living in Guiyu was positively associated with blood lead (B = 0.196, p < 0.001), blood cadmium (B = 0.148, p < 0.05) and cough (OR, 2.37; 95% CI, 1.30-4.32; p < 0.01). Blood lead>5 µg/dL was significantly associated with asthma (OR, 9.50; 95% CI, 1.16-77.49). Higher blood chromium and blood manganese were associated with more cough and wheeze, respectively. Our data suggest that living in e-waste exposed area may lead to increased levels of heavy metals, and accelerated prevalence of respiratory symptoms and asthma.

Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia.

BACKGROUND: Neonatal hyperbilirubinemia is common in Asia, and the importance of genetically determined conditions has been recently recognized. The aim of this study was to assess the clinical utility of genetic testing in Chinese neonates with severe hyperbilirubinemia. METHODS: Fifty-eight term infants with bilirubin level ≥ 20 mg/dL (342 µmol/L), and 65 controls were enrolled in the study. Variation status of UGT1A1, G6PD, and thalassemia genes in our study cohort was determined by direct sequencing or genotype assays. RESULTS: Among these case infants, seven were confirmed with G6PD deficiency, four were heterozygous for α- or ß-thalassemia, and forty-four were detected with at least one heterozygous UGT1A1 functional variant, including nine homozygous for UGT1A1 variation. As well as the predominant c.211G>A (Gly71Arg) variant, three UGT1A1 coding variants [c.1091C>T (Pro364Leu), c.1352C>T (pro451leu), and c.1456C>T (Tyr486Asp)] were observed in our case neonates. The results of multivariate logistic regressions, adjusted for covariates, revealed odds ratios for neonates who carried heterozygous, homozygous variation at nucleotide 211 of UGT1A1, and G6PD deficiency of 3.47 (1.26-9.55), 12.46 (1.09-142.7) ,and 12.87 (1.32-135.87) compared with those having the wild genotype and normal G6PD activity, respectively. CONCLUSION: Besides G6PD-deficiency screening, UGT1A1 genetic analysis, and especially the UGT1A1*6(c.211G>A, p.Arg71Gly) polymorphism detection, may be taken into consideration for early diagnosis and treatment of severe hyperbilirubinemic newborns in southern China.

Clinical validation of a novel real-time human papillomavirus assay for simultaneous detection of 14 high-risk HPV type and genotyping HPV type 16 and 18 in China.

In the present study, we describe the laboratory workflow and the clinical validation of a novel multiplex real-time PCR-based HPV assay in China. The cross-sectional validation analysis showed that this assay worked well for detection of 14 HR-HPV types and identification of HPV 16 and 18 in a single sensitive assay that is suitable for both clinical usage and high-throughput cervical screening purposes. We predict that this accurate, high-throughput and low-cost HPV assay can greatly reduce the heavy economic burden of HPV detection in China.

Multiple Genetic Modifiers of Bilirubin Metabolism Involvement in Significant Neonatal Hyperbilirubinemia in Patients of Chinese Descent.

The potential for genetic variation to modulate neonatal hyperbilirubinemia risk is increasingly being recognized. A case-control study was designed to assess comprehensive contributions of the multiple genetic modifiers of bilirubin metabolism on significant neonatal hyperbilirubinemia in Chinese descendents. Eleven common mutations and polymorphisms across five bilirubin metabolism genes, namely those encoding UGT1A1, HMOX1, BLVRA, SLCO1B1 and SLCO1B3, were determined using the high resolution melt (HRM) assay or PCR-capillary electrophoresis analysis. A total of 129 hyperbilirubinemic infants and 108 control subjects were evaluated. Breastfeeding and the presence of the minor A allele of rs4148323 (UGTA*6) were correlated with an increased risk of hyperbilirubinemia (OR=2.17, P=0.02 for breastfeeding; OR=9.776, P=0.000 for UGTA*6 homozygote; OR=3.151, P=0.000 for UGTA*6 heterozygote); whereas, increasing gestational age and the presence of -TA7 repeat variant of UGT1A1 decreased the risk (OR=0.721, P=0.003 for gestational age; OR=0.313, P=0.002 for heterozygote TA6/TA7). In addition, the SLCO1B1 and SLCO1B3 polymorphisms also contributed to an increased risk of hyperbilirubinemia. This detailed analysis revealed the impact of multiple genetic modifiers on neonatal hyperbilirubinemia. This may support the use of genetic tests for clinical risk assessment. Furthermore, the established HRM assay can serve as an effective method for large-scale investigation.