Search

The heterogeneity of pore structure greatly affects gas sorption and flow in shales. The pore structure of shales from the Upper Permian Dalong Formation and Lower Silurian Longmaxi Formation in northeastern Sichuan Basin were investigated using low-pressure N 2 adsorption and field emission scanning electron microscopy (FE-SEM) techniques. The effect of the material compositions on fractal feature, using the Frenkel-Halsey-Hill (FHH) method from low-pressure N 2 adsorption data, was also discussed. The results show that organic pores, intraparticle pores, and microfractures are well developed in Longmaxi shales, but only a certain amount of intraparticle pores within pyrite framboids or calcite grains formed by partial dissolution exist in Dalong shales. The specific surface area and pore volume of Dalong shales vary from 2.20 to 3.52 m 2 /g and 1.11–1.77 cm 3 /100 g, respectively, caused by low maturity, whereas those of Longmaxi shales are in the range of 17.83–29.49 m 2 /g and 2.53–5.18 cm 3 /100 g, respectively, which mainly constitute high-maturity kerogen. The fractal dimensions range from 2.474 to 2.534 for Dalong shales, and from 2.694 to 2.76 for Longmaxi shales. The differences in fractal dimensions of the two sets of shales seem to be related to the maturity of kerogen, which controls the development of organic pores. TOC is also a controlling factor of fractal dimension, exhibited by negative correlation between TOC content and fractal dimension, for both Dalong and Longmaxi shales. The fractal dimension increases with increasing soluble hydrocarbon (S 1 ) for Longmaxi shales, but decreases for Dalong shales, due to S 1 which may fill in the shale pores and affects the uniformity of pore distribution. Weak positive correlations between the fractal dimension and the content of calcite and feldspar suggest that the increase in carbonate and feldspar could slightly increase the heterogeneity of shale pores. There are negative relationships between the fractal dimension and the specific surface area and pore volume for Longmaxi shales, but no relationships for Dalong shales, illustrating that more micropores and mesopores in Longmaxi shales could decrease the heterogeneity of the pore system. [ABSTRACT FROM AUTHOR]

We evaluated the efficacy and safety of stir-fried white pepper in the treatment of infant and children diarrhea. This was a randomized trial conducted in the pediatric emergency department of the hospital affiliated to Jining Medical College. One hundred seventy four patients were selected from outpatients from 2011 to 2012. Participants were randomly assigned to treatment with stir-fried white pepper (n = 88) or montmorillonite powder (n = 86). The proportions of chronic diarrhea patients (n = 52) showing success of treatment were similar for both groups. There were great differences between the two groups in acute diarrhea (n = 62) and persistent diarrhea (n = 60), and the cure rate of stir-fried white pepper was higher than montmorillonite powder in both groups. The prescription of stir-fried white pepper significantly decreased the frequency of diarrhea in infants and children under 2.5 years with diarrhea compared to treatment with montmorillonite powder, especially for the patients with acute diarrhea or persistent diarrhea. [ABSTRACT FROM AUTHOR]

Abstract: For the Xiashu loess–palaeosol sequence in Nanjing, China, further to our work on the cyclic variability in its chemical composition and swelling-shrinkage properties [Xia, J., Huang, G.L., Liu, Z. T., Chen, X.M., 2007. Cyclic variability in chemical composition and swelling–shrinkage properties of the Xiashu loess stratum near Nanjing, China. Pedosphere 17 (5), 666–672.], this paper studies the cyclic variability in its microstructure and physico-mechanical properties and the corresponding influence on its engineering behaviour for geotechnical and geological practices. In addition, the cyclic variability in the soil''s grain-size distribution and geochemical characteristics is compared with that of the loess–palaeosol sequences at two other sites in China, indicating a geographical pattern of cyclic variation of the sequences. [Copyright &y& Elsevier]

Abstract: Recent floodplain soft soil is widespread along the lower reaches of the Yangtze River in western Nanjing, China, an area of new residential development and underground space utilisation such as subway lines and tunnels under rivers in Nanjing city. Construction experience in this area in the last two decades shows that ground and underground engineering are susceptible to accidents. The accidents are fundamentally due to the lack of a clear and detailed understanding of the geotechnical and geological properties, in particular the differential consolidation settlement of the soft soil. In this context, this paper studies the behaviour and engineering implications of such soil. First, we present the soil''s geological background and sedimentary features, test its geotechnical properties, and identify its material composition by X-ray diffraction and SEM. Then, we investigate changes of microstructure at different depths and under different applied loadings, and corresponding engineering implications under consolidation and compression. Finally, by referring to a microstructure classification system for marine sediment, we suggest a combined type of microstructure for the floodplain soft soil. [Copyright &y& Elsevier]

Abstract: The ancient gravel stratum near Nanjing, China, is a major stratum of Cenozoic age along the middle–lower reaches of the Yangtze River. This paper first presents a typical geological profile and material composition of the ancient gravel stratum, and then discusses its geologic origin, soil–rock-forming processes, engineering mechanical properties, and their relations. These analyses are useful for city planning, geotechnical engineering, construction, and characterization of the geological environment in the Nanjing area. [Copyright &y& Elsevier]

SummaryDisseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2–24.1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (θ = 0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis. [ABSTRACT FROM AUTHOR]

Nitrogen sorption and mercury intrusion methods were applied to characterize the pore structure of the Lower Silurian shales of the Long-ma-xi Formation and Upper Permian shales of the Da-long Formation in the Sichuan Basin. The results indicate that the specific surface areas and porosities of the Silurian shales are in the range of 17.83–29.49 m 2 /g and 3.65–18.26%, respectively. The Silurian shales show a bimodal pore-size distribution, and consist of both micropores and nanopores, ranging from 30 to 60 μm and 1.7–20 nm, respectively. A strong positive linear correlation between the surface areas and total organic carbon content (TOC) suggests that the organic matter contributes mostly to the amount of specific surface area of the Silurian shales, whereas the contribution of clay minerals appears to be negligible. The organic matter also accounts for 50–70% of the porosity in the Silurian shales. Soluble organic matter in the form of bitumen, however has a negative impact on the surface area and porosity of the Silurian shales and reduce the amount of surface area and porosity in these shales. For the Permian shales, their surface area and porosity are lower than those of the Silurian shales, and are in the ranges of 2.20–3.52 m 2 /g and of 1.30–4.15%, respectively. The pore-size distribution of the Permian shales shows a unimodal pattern of micropores in a size range of 30–60 μm. Their TOC and clay mineral contents display poor correlation with the surface areas and suggest that both the organic matter and clay minerals have very low surface areas. A clear negative correlation between the porosity and TOC in the Permian shales indicates that organic matter contributes little or insignificantly to the porosity due to poorly developed organic pores in kerogen because the Permian shales are much lower in thermal maturity than the Silurian shales. Furthermore, there is a consistent negative linear correlations between the bitumen content and the porosity for both the Permian shales and Silurian shales and indicate that the bitumen may significantly reduce the porosity of the shales by occupying the pore spaces in the mineral and organic matrix. Finally, it is clear that the Lower Silurian shales have a greater shale gas potential than the Upper Permian shales do based on their surface area and porosity. [ABSTRACT FROM AUTHOR]

Ant nests can affect the process and seasonal dynamics of forest soil methane emissions through mediating methane oxidation/reduction microorganisms and physicochemical environments. To explore the process and mechanism by which ant nests affect soil methane emissions from Hevea brasiliensis plantation in Xishuangbanna, we measured the seasonal dynamics of methane emissions from ant nest and non-nest soils by using static chamber-gas chromatography method, and analyzed the effect of ant nesting on the changes in functional microbial diversity, microhabitats, and soil nutrients in the plantations. The results showed that: 1) Ant nests significantly affected the mean annual soil methane emissions in tropical plantation. Methane emissions in ant nest were decreased by 59.9% than the non-nest soil. In the dry season, ant nest soil was a methane sink (-1.770 μg·m -2 ·h -1 ), which decreased by 87.2% compared with the non-nest soil, while it was a methane source (0.703 μg·m -2 ·h -1 ) that increased by 152.7% in the wet season. 2) Ant nesting affected methane emissions via changing soil temperature, humidity, carbon and nitrogen concentrations. In contrast to the control, the mean annual temperature, humidity, and carbon and nitrogen content increased by 4.9%-138.5% in ant nest soils, which explained 90.1%, 97.3%, 27.3%-90.0% of the variation in methane emissions, respectively. 3) Ant nesting affected the emission dynamics through changing the diversity and community structure of methane functional microbe. Compared with the control, the average annual methanogen diversity (Ace, Chao1, Shannon, and Simpson indices) in the ant nest ranged from -9.9% to 61.2%, which were higher than those (-8.7%-31.2%) of the methane-oxidising bacterial communities. The relative abundance fluctuations of methanogens and methanotrophic bacteria were 46.76% and -6.33%, respectively. The explaining rate of methanogen diversity to methane emissions (78.4%) was higher than that of oxidizing bacterial diversity (54.5%), the relative abundance explained by the dominant genus of methanogens was 68.9%. 4) The structural equation model showed that methanogen diversity, methanotroph diversity, and soil moisture were the main factors controlling methane emissions, contributing 95.6%, 95.0%, and 91.2% to the variations of emissions, respectively. The contribution (73.1%-87.7%) of soil temperature and carbon and nitrogen components to the emission dynamics was ranked the second. Our results suggest that ant nesting mediates the seasonal dynamics of soil methane emissions, primarily through changing the diversity of methane-function microorganisms and soil water conditions. The research results deepen the understanding of the mechanism of biological regulation of methane emission in tropical forest soil.

Hypertension and atrial fibrillation are closely related. However, hypertension is already prevalent in young adults, but atrial fibrillation usually occurs in the elderly. In the present analysis, we investigated incident atrial fibrillation in relation to new-onset hypertension in an elderly Chinese population. Our study participants were elderly (≥65 years) hypertensive residents, recruited from community health centers in the urban Shanghai (n = 4161). Previous and new-onset hypertension were defined as the use of antihypertensive medication or elevated systolic/diastolic blood pressure (≥140/90 mmHg), respectively, at entry and during follow-up on ≥ 2 consecutive clinic visits. Atrial fibrillation was detected by a 30-s single-lead electrocardiography (ECG, AliveCor® Heart Monitor) and further evaluated with a regular 12-lead ECG. During a median of 2.1 years follow-up, the incidence rate of atrial fibrillation was 7.60 per 1000 person-years in all study participants; it was significantly higher in patients with new-onset hypertension (n = 368) than those with previous hypertension (n = 3793, 15.76 vs. 6.77 per 1000 person-years, P = 0.02). After adjustment for confounding factors, the hazard ratio for the incidence of atrial fibrillation was 2.21 (95% confidence interval 1.15-4.23, P = 0.02) in patients with new-onset hypertension versus those with previous hypertension. The association was even stronger in those aged ≥ 75 years (hazard ratio 2.70, 95% confidence interval 1.11-6.56, P = 0.03). In patients with previous hypertension, curvilinear association (P for non-linear trend = 0.04) was observed between duration of hypertension and the risk of incident atrial fibrillation, with a higher risk in short- and long-term than mid-term duration of hypertension. Our study showed a significant association between new-onset hypertension and the incidence of atrial fibrillation in elderly Chinese. In an elderly Chinese population with previous and new-onset hypertension, we found that the new-onset hypertension during follow-up, compared with previous hypertension, was associated with a significantly higher risk of incident atrial fibrillation. In patients with previous hypertension, curvilinear association was observed between duration of hypertension and the risk of incident atrial fibrillation, with a higher risk in short- and long-term than mid-term duration of hypertension., (© 2024. The Author(s), under exclusive licence to The Japanese Society of Hypertension.)

Objective: The National Natural Science Foundation of China (NSFC) has made great progress in promoting the development of aortic dissection research in recent years. This study aimed to examine the development and research status of aortic dissection research in China so as to provide references for future research., Methods: The NSFC projects data from 2008 to 2019 were collected from the Internet-based Science Information System and other websites utilized as search engines. The publications and citations were retrieved by Google Scholar, and the impact factors were checked by the InCite Journal Citation Reports database. The investigator's degree and department were identified from the institutional faculty profiles., Results: A total of 250 grant funds totaling 124.3 million Yuan and resulting in 747 publications were analyzed. The funds in economically developed and densely populated areas were more than those in underdeveloped and sparsely populated areas. There was no significant difference in the amount of funding per grant between different departments' investigators. However, the funding output ratios of the grants for cardiologists were higher than those for basic science investigators. The amount of funding for clinical researchers and basic scientific researchers in aortic dissection was also similar. Clinical researchers were better in terms of the funding output ratio., Conclusion: These results suggest that the medical and scientific research level of aortic dissection in China has been greatly improved. However, there are still some problems that urgently need to be solved, such as the unreasonable regional allocation of medical and scientific research resources, and the slow transition from basic science to clinical practice., (© 2023. Huazhong University of Science and Technology.)

Wuhai is a typical coking industrial base including three industrial parks within its jurisdiction. The emission amount of air pollutants is considerable here, and O 3 pollution has become serious in recent years. Clarifying the air pollutant emission characteristics and exploring the formation mechanism of O 3 are the basis for objectively understanding the O 3 pollution and formulating scientific prevention and control measures. This study established the high-resolution emission inventory of Wuhai in 2018 (HEI-WH18) based on the "coefficient method," evaluated the applicability and accuracy of HEI-WH18 using the WRF-Chem model, and explored the causes of O 3 pollution in summer using WRF-Chem diagnosis module output. The HEI-WH18 showed that the total emissions amount of SO 2 , NO x , CO, PM 10 , PM 2.5 , VOCs, NH 3 , BC, and OC were 65943, 40934, 172867, 159771, 47469, 69191, 1407, 1491, and 1648 t·a -1 , respectively. HEI-WH18 could capture the variation and magnitude of O 3 and its precursors better than the MEIC, which was suitable for the O 3 simulation and source analysis in summer. From the perspective of spatial distribution, Haibowan was a high-value area of O 3 during the daytime, and the three industrial parks were low-value areas of O 3 and high-value areas of NO 2 during the daytime and nighttime. The spatial distribution characteristics of CO were consistent with the spontaneous combustion of coal and coal gangue sources. According to the diagnostic analysis of two O 3 pollution processes, the O 3 increase in the upper boundary layer was mainly related to the advection transport and chemical process, and it was caused by vertical mixing and the advection transport process in the lower boundary layer. The contribution of the chemical process in the lower boundary layer was complicated, and its positive contribution played a role in maintaining a high O 3 concentration, whereas its negative contribution combined with advection transport resulted in the final dissipation of O 3 pollution.

Background: In this case report, we have described congenital inherited endothelial dystrophy (CHED) caused by two heterozygous missense mutations in two patients., Methods: A Chinese family affected by CHED was recruited to identify potential genetic mutations. The proband developed bilateral corneal opacity after birth, and was diagnosed with CHED based on the clinical manifestations. Her younger sister had the same symptoms. Blood samples were collected from four members of the family, including the two sisters and their parents, and full exon sequencing (WES) was used to identify potential genetic mutations in the proband. To verify the identified mutations, Sanger sequencing was performed on samples from other family members., Results: Two heterozygous missense variants were found in SLC4A11 , a variant NM_032034.4; c.1237 G > A (p.G413R, rs1286683365) in exon 10 and a variant NM_032034.4, c. 698 G > T (p.R233L) in exon 6, and the latter was reported for the first time in this disease. Bioinformatics tools, such as SIFT and PolyPhen, showed that changes in these two amino acids probably affected protein function., Conclusions: This study reported the typical clinical symptoms of CHED caused by two heterozygous missense variants (c.1237 G > A and c. 698 G > T) in the SLC4A11 gene in a Chinese family.

Background: Screening for atrial fibrillation before onset of symptoms and the subsequent initiation of oral anticoagulants could prevent stroke and death. The most cost-effective strategy to screen for atrial fibrillation in a population at high risk aged 65 years and older is unknown. Therefore, we aimed to investigate whether more frequent electrocardiography (ECG) recordings would significantly improve the detection of atrial fibrillation compared with annual ECG screenings., Methods: We did a randomised controlled trial that compared different screening frequencies of 30 s single-lead ECG (AliveCor Heart Monitor) in the detection of atrial fibrillation in Chinese residents (≥65 years) in five community health centres in Shanghai, China. Only participants without history of atrial fibrillation and without atrial fibrillation rhythm at baseline were eligible for inclusion in the trial. Random assignment was done with the use of a random number table and stratified for study site. Participants were randomly assigned in a 1:1 ratio to annual or quarterly screening groups. The quarterly screening group was further randomly assigned in a 3:1 ratio to subgroups of quarterly screening and quarterly screening plus (which involved ECG screening once per week for the first month of follow-up, then quarterly for the remainder of follow-up). The primary outcome was the detection rate of atrial fibrillation. The intention-to-treat analysis was done for all randomly assigned patients who had at least one ECG recording during follow-up. This trial was registered at ClinicalTrials.gov, NCT02990741, and terminated on Oct 31, 2020., Findings: Between April 17, 2017, and June 26, 2018, 8240 participants were randomly assigned to annual screening (n=4120), quarterly screening (n=3090), and quarterly screening plus (n=1030), with a mean number of ECG recordings of 1·6 (SD 0·5) for annual screening, 3·5 (1·5) for quarterly screening, and 5·2 (2·9) for quarterly screening plus during a median of 2·1 years follow-up (13 284 person-years). 73 incident cases of atrial fibrillation occurred: 26 in the annual screening group (4·1 per 1000 person-years) and 47 in the quarterly screening group (6·7 per 1000 person-years. Quarterly screening was associated with a significant increase in the detection rate of atrial fibrillation, compared with annual screening (hazard ratio [HR] 1·71; 95% CI 1·06-2·76; p=0·029). 40 incident cases were detected in quarterly screening (7·2 per 1000 person-years; HR compared to annual screening, 1·83; 95% CI 1·12-3·00; p=0·017) and seven in the quarterly screening plus group (4·8 per 1000 person-years; HR compared with annual screening, 1·24; 0·54-2·86; p=0·61). No significant difference was noted between quarterly screening and the quarterly screening plus group (HR of quarterly screening plus compared with quarterly screening, 0·68; 0·30-1·52; p=0·35)., Interpretation: Quarterly 30 s single-lead ECG screening was associated with a significantly higher detection rate of incident atrial fibrillation compared with annual screening, but additional once per week screenings in the first month did not yield an added predictive value. Quarterly screening might be considered in a general population at a high risk of atrial fibrillation, such as those aged 65 years and older., Funding: Bayer Healthcare Company., Competing Interests: Declaration of interests J-GW reports receiving lecture and consulting fees from Novartis, Omron, and Takeda; and grants from Bayer. BF reports grants from Bayer Healthcare Company and BMS-Pfizer; personal fees from Bayer Healthcare Company, BMS-Pfizer, Daiichi-Sankyo, and Omron; and non-financial support from Bayer, BMS-Pfizer, Daiichi-Sankyo, and Omron. All other authors declare no competing interests., (Copyright © 2021 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC-ND 4.0 license. Published by Elsevier Ltd.. All rights reserved.)

Suffering from COVID-19 and witnessing the suffering and deaths of patients with COVID-19 may place frontline healthcare workers (HCWs) at particularly high risk for posttraumatic stress disorder (PTSD); however, few data are available on the clinical characteristics of PTSD among frontline HCWs who survived COVID-19 ("surviving HCWs" hereafter). The present study examined the prevalence, correlates, and clinical symptoms of possible PTSD in surviving HCWs 6 months after the COVID-19 outbreak in China. A total of 291 surviving HCWs and 42 age- and gender-matched COVID-19-free frontline HCWs (control group) were recruited and administered the Chinese Essen Trauma Inventory, which was used to assess the presence of possible PTSD according to DSM-IV-TR criteria. Survivors' clinical data and characteristics of exposure to COVID-19 were collected via self-report questionnaires. Surviving HCWs had significantly higher rates of possible PTSD than controls (19.9% vs. 4.8%, P = 0.017). Correlates of PTSD in survivors were ICU admission (OR = 8.73, P = 0.003), >10 respiratory symptoms during the most symptomatic period of COVID-19 (OR = 3.08, P = 0.006), the residual symptom of dizziness (OR = 2.43, P = 0.013), the residual symptom of difficult breathing (OR = 2.23, P = 0.027), life in danger due to COVID-19 (OR = 16.59, P = 0.006), and exposure to other traumatic events (OR = 2.94, P = 0.035). Less commonly seen PTSD symptoms in survivors were having nightmares about the event (34.5%), suddenly feeling like they were living through the event suddenly (25.9%), being unable to remember an important part of the event (32.8%), and overalertness (31.0%). Nearly one-fifth of the surviving HCWs had possible PTSD 6 months after the COVID-19 outbreak. Mental health services for this vulnerable population should include periodic screening for PTSD, expanded social support, and, when necessary, psychotherapy and psychopharmacological treatment.

Currently, little in-depth evidence is known about the application of extracorporeal membrane oxygenation (ECMO) therapy in coronavirus disease 2019 (COVID-19) patients. This retrospective multicenter cohort study included patients with COVID-19 at 7 designated hospitals in Wuhan, China. The patients were followed up until June 30, 2020. Univariate and multivariate logistic regression analyses were performed to identify the risk factors associated with unsuccessful ECMO weaning. Propensity score matching was used to match patients who received veno-venous ECMO with those who received invasive mechanical ventilation (IMV)-only therapy. Of 88 patients receiving ECMO therapy, 27 and 61 patients were and were not successfully weaned from ECMO, respectively. Additionally, 15, 15, and 65 patients were further weaned from IMV, discharged from hospital, or died during hospitalization, respectively. In the multivariate logistic regression analysis, a lymphocyte count ≤0.5×10 9 /L and D-dimer concentration >4× the upper limit of normal level at ICU admission, a peak PaCO 2 >60 mmHg at 24 h before ECMO initiation, and no tracheotomy performed during the ICU stay were independently associated with lower odds of ECMO weaning. In the propensity score-matched analysis, a mixed-effect Cox model detected a lower hazard ratio for 120-day all-cause mortality after ICU admission during hospitalization in the ECMO group. The presence of lymphocytopenia, higher D-dimer concentrations at ICU admission and hypercapnia before ECMO initiation could help to identify patients with a poor prognosis. Tracheotomy could facilitate weaning from ECMO. ECMO relative to IMV-only therapy was associated with improved outcomes in critically ill COVID-19 patients.

Background: An increase in alcohol consumption and related harmful effects has been reported among the elderly population in Asia. Of note, it is important to monitor patterns of alcohol use, and to establish a valid and reliable evaluation system when screening for risky consumption in this age group., Objective: The aim of the current study was to evaluate the possible alcoholic liver disease (ALD) risk factors of a local population in elderly Chinese adults., Methods: A questionnaire was sent to 3393 Chinese adults over 40 years old in Hefei. Alcohol consumption was determined based on the AUDIT questionnaire. ALD was defined by ALD diagnostic standards. Adjusted odds ratios and 95% confidence intervals (95% CI) derived from multiple logistic regression models were used to assess the relationship between ALD and sociodemographic variables., Results: Among 2545 total interviewees, 448 (17.6%) reported a history of alcohol consumption in the previous 12 months. Of these drinkers, 46.7% were male and 53.3% were female. The overall Cronbach's alpha coefficient for AUDIT was 0.648. The rate of ALD was 6.83%. Alcohol abuse was significantly associated with ALD. In the logistical model, alcohol abuse was independently associated with ALD (OR = 6.17, 95% CI: 3.69-15.24; p < 0.01)., Conclusions: Alcohol use, sex, age, and facial flushing were risk factors for ALD. These results provide important evidence for the prevention and therapy of ALD., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Lead benchmarks for soil are mainly established based on blood lead concentration of children. This is because lead plays a dramatically negative role in children's cognitive development and intellectual performance and thus soil lead has been concerned as main lead exposure source for children. Based on the extensively collection of domestic available data, lead levels in air, drinking water are 0.12-1.0 microg x m(-3) and 2-10 microg x L(-1); ingestion of lead from food by children of 0-6 years old is 10-25 microg x d(-1); geometric mean of women blood lead 1concentration of child bearing age is 4.79 microg x dL(-1), with 1.48 GSD. Lead benchmarks for soil were calculated with the Integration Exposure Uptake Biokinetic Model (IEUBK) and the Adult Lead Model (ALM). The results showed the lead criteria values for residual land and commercial/industrial land was 282 mg x kg(-1) and 627 mg x kg(-1) respectively, which was slightly lower compared with U.S.A. and U.K. Parameters sensitivity analysis indicated that lead exposure scenario of children in China was significantly different from children in developed countries and children lead exposure level in China was obviously higher. Urgent work is required for the relationship studies between lead exposure scenario and blood lead level of children and establishment of risk assessment guideline of lead contaminated soil based on human blood lead level.

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders with a prevalence estimated at 1/2500. The axonal form of this disorder is referred to as Charcot-Marie-Tooth type 2 disease (CMT2). Recently, a large Chinese family with CMT2 was found in the Hunan and Hubei provinces of China. The known loci for CMT1A, CMT2D, CMT1B (the same locus is also responsible for CMT2I and CMT2J), CMT2A, CMT2E, and CMT2F were excluded in this family by linkage analysis. A genome-wide screening was then carried out, and the results revealed linkage of CMT2 to a locus at chromosome 12q24. Haplotype construction and analyses localized this novel locus to a 6.8-cM interval between microsatellite markers D12S366 and D12S1611. The maximal two-point LOD score of 6.35 and multipoint LOD score of 8.08 for marker D12S76 at a recombination fraction (theta) of 0 strongly supported linkage to this locus. Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L.

Nasopharyngeal carcinoma (NPC) poses one of the serious health problems in southern Chinese, with an incidence rate ranging from 15 to 50/100,000. Chromosome translocation t(1;3) and frequent loss of heterogeneity on short arms of chromosome 3 and 9 have been reported to be associated with NPC, and a genome-wide scan identified an NPC susceptibility locus on chromosome 4p15.1-q12 recently. In our study, we collected samples from 18 families at high risk of NPC from the Hunan province in southern China, genotyped with a panel of polymorphic markers on short arms of chromosomes 3, 9, and 4p15.1-q12. A locus on 3p21 was identified to link to NPC with a maximum logarithm of odds for linkage score of 4.18. Fine mapping located the locus to a 13.6-cM region on 3p21.31-21.2, where a tumor suppressor gene cluster resided. Our findings identified a novel locus for NPC and provided a map location for susceptibility genes candidates. In contrast to a recent study, no significant evidence for NPC linkage to chromosomes 4 and 9 was observed.

Objective: To investigate the mutation characteristics of spastin gene in Chinese patients with hereditary spastic paraplegia (HSP) and thus provide a basis for the gene diagnosis of HSP., Methods: Mutation of spastin gene was screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 31 unrelated affected HSP individuals in China, of whom 22 were from autosomal dominant families and 9 were sporadic HSP patients. Co-segregation analysis was carried out after the finding of abnormal SSCP bands., Results: Six cases were found to have abnormal SCP bands, and among them, two missense mutations (T1258A, A1293G in exon 8) and one deletion mutation (1667delACT or 1668delCTA or 1669delTAC in exon 14) were found and all of them were not reported previously. They were all co-segregated with the disease and were localized within the functional domain of spastin gene. Besides, T1258A was seen in two unrelated families., Conclusion: The mutation rate (18.2%) in autosomal dominant HSP in Chinese patients is comparatively low. Point mutation is the major mutation type and exon 8 may be the mutation hot spot.