Search

Objectives: To investigate the prevalence and the clinical feature of essential tremor (ET) in a community cohort in Beijing. Methods: Using a door-to-door, two-phase approach, we investigated 2,835 residents aged ≥55 years old from rural, urban, and mountain areas. Results: The prevalence rate of ET was 4.29%, 2.85%, and 2.29% in rural, urban, and mountain areas, respectively. The overall age- and sex-adjusted prevalence was 3.29%. Among those aged ≥75 years, the prevalence rate in the urban area was higher than those in the rural and mountain areas. The prevalence rate increased with age, and the prevalence was higher among men (6.0%) than among women (3.6%). There was a correlation of ET prevalence with age, sex, and habitation area, but not with alcohol, tea drinking, and occupation. Women (25%) with ET were more likely to have head tremor than men (16.9%). Conclusions: The ET prevalence in the elderly of Beijing was 3.29% which is higher in the urban area and in men. [ABSTRACT FROM AUTHOR]

This paper attempts to disclose the effects of land use pattern on the selection of low-carbon travel by urban residents. Targeting 19 blocks in north western China’s Xi’an, the author collected data from various sources, including phone signals, app records and field surveys, and divided the blocks into two groups based on the difference in land use pattern. The multi-source data ensures the objectivity and accuracy of the analysis. Then, the relationship models between block land use features and residents’ travel methods were established based on the Logit model, and the effects of six land use features on the selection of low-carbon travel were discussed in detail. The research results show a strong correlation between land use pattern and travel mode of the residents in the 19 blocks; the six land use features have different impacts on the travel mode; the residents in the two types of blocks prefer different low-carbon travel methods. This research lays a scientific basis for the optimization of urban space and land use. [ABSTRACT FROM AUTHOR]

Background and purpose: The incidence of ischaemic stroke has increased or remained high in China; however, little population-based evidence is available on the incidence and survival of lacunar infarction (LAC). We examined the incidence of LAC in a northern Chinese (Beijing) population and monitored survival. Methods: A prospective registry population-based study was conducted over a 6-year period in a general, unselected, and representative community in Beijing with approximately 100 000 long-term permanent residents. All first-ever stroke cases were registered. Results: A total of 1184 patients with ischaemic stroke were identified; 36.9% (437 cases) were classified as LAC. Age-standardized incidence rates of LAC ranged from 24.0 to 51.3/100 000 with an average rate of 35.3/100 000 during study period. The incidence of LAC increased with age before 70 years. The incidence of non-LAC increased with age. There were no significant differences in crude incidence of LAC between men and women (78.4/100 000 vs. 75.4/100 000). The incidence of non-LAC was significantly higher in men than in women (155/100 000 vs. 107/100 000, P < 0.001). The 28-day case fatality proportions were significantly lower in patients with LAC (0.5%) versus non-LAC (14.9%). One year after acute stroke onset, the survival rates between LAC and non-LAC were similar. Conclusion: LAC is a common stroke subtype in Northern China. Men or the elderly are more likely to have non-LAC. Long-term survival following LAC is similar to non-LAC patients. [ABSTRACT FROM AUTHOR]

The article discusses a study on the effectiveness of using a modified bite-block for mask ventilation in edentulous older patients. The modified bite-block was designed by researchers from China to reduce mask ventilation leakage (MVL) due to edentulism. The study's subjects underwent mask ventilation following induction of general anaesthesia. The study found that the use of the modified bite-block led to high success rate of mask ventilation and reduced MVL.

Birth defects are a major problem threatening the health of children in China. Genetic factors play a major role in birth defect etiology. Molecular diagnosis is the key means for screening, diagnosing, and preventing birth defects caused by genetic factors. How to carry out large-scale and cost-effective molecular diagnosis in clinical practice is a major challenge in the prevention and treatment of birth defects in China. This article reviews the current status of birth defects in China, the application of molecular diagnostic technology in birth defect prevention and control, and the challenges in promoting its use, to provide references for clinical practice in birth defect molecular diagnosis.

Objective: The investigation and research on the application status of Hepatic Venous Pressure Gradient (HVPG) is very important to understand the real situation and future development of this technology in China. Methods: This study comprehensively investigated the basic situation of HVPG technology in China, including hospital distribution, hospital level, annual number of cases, catheters used, average cost, indications and existing problems. Results: According to the survey, there were 70 hospitals in China carrying out HVPG technology in 2021, distributed in 28 provinces (autonomous regions and municipalities directly under the central Government). A total of 4 398 cases of HVPG were performed in all the surveyed hospitals in 2021, of which 2 291 cases (52.1%) were tested by HVPG alone. The average cost of HVPG detection was (5 617.2±2 079.4) yuan. 96.3% of the teams completed HVPG detection with balloon method, and most of the teams used thrombectomy balloon catheter (80.3%). Conclusion: Through this investigation, the status of domestic clinical application of HVPG has been clarified, and it has been confirmed that many domestic medical institutions have mastered this technology, but it still needs to continue to promote and popularize HVPG technology in the future.

Handgrip strength (HGS) is widely used to evaluate nutrition and adverse outcomes in several diseases. However, the relationship between HGS and the parameters of chronic obstructive pulmonary disease (COPD) are not known. To evaluate HGS in male patients with stable COPD, and to assess its correlation with dyspnoea and functional exercise capacity. We recruited 116 male out-patients with stable COPD from a general hospital in China between February and December 2017. For each patient, we recorded demographic characteristics and measured pulmonary function, dyspnoea, exercise capacity, body composition and HGS. HGS had a significantly positive correlation with muscle mass, lung function, and 6-min walking distance (6MWD) and a negative correlation with the modified Medical Research Council dyspnoea score. Multiple linear regression analysis showed that combining age, fat-free mass (FFM), 6MWD and duration of COPD accounted for 43.1% of the total variance in HGS. HGS was correlated with dyspnoea and exercise capacity. Aging and disease could alter upper limb muscle strength in COPD patients. Hence, HGS might be a simple method for assessing muscle function and for identifying patients with a noticeable reduction in HGS, who will need early, multidisciplinary intervention. .

Objective: To investigate the prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) in pregnant women in urban areas of China. Methods: The study was a national cross-sectional survey conducted from September 19th, 2016 to November 20th, 2016. According to the classification of the National Bureau of Statistics, all survey sites were set up in 6 regions of the country.Pregnant women were continuously selected using multistage stratified sampling. A total of 12 403 pregnant women were collected and examined for serum ferritin and hemoglobin levels. Results: The median serum ferritin level during pregnancy was 20.60 μg/L (11.78-36.98 μg/L) , the hemoglobin level was (118±12) g/L. With the progress of pregnancy, the levels of serum ferritin and hemoglobin decreased gradually. The median serum ferritin levels in the first, second trimester and third trimester were 54.30 μg/L (34.48-94.01 μg/L) , 28.60 μg/L (16.40-50.52 μg/L) , and 16.70 μg/L (10.20-27.00 μg/L) respectively ( P< 0.01) . The mean hemoglobin levels were (127±10) g/L, (119±11) g/L and (117±11) g/L respectively ( P< 0.01) . The prevalence of ID in urban pregnant women was 48.16% (5 973/12 403) , and IDA prevalence was 13.87% (1 720/12 403) . The prevalence of IDA in the first, second trimester and third trimester were 1.96% (20/1 019) , 8.40% (293/3 487) and 17.82% (1 407/7 897) ,respectively ( P< 0.01) . The prevalence of standardized ID and IDA were significantly different in various regions of China ( P< 0.01) . The standardized prevalence of ID were relatively higher in East China and Northeast China, 57.37% and 53.41% respectively, while it was the lowest in Southwest China, 30.51%. The standardized prevalence of IDA in South Central, Northwest, and East China were relatively high, 21.30%, 16.97% and 17.53% respectively, and the standardized prevalence of IDA in Southwest China was the lowest, 5.44%, the differents in various regions were significant (all P< 0.01) . Conclusion: The current phenomenon of ID and IDA in pregnant women is still very common, and nutrition and health care during pregnancy should be strengthened.

Cynodon dactylon (L.) Pers. var. dactylon (common bermudagrass) is widely distributed geographically between approximately 45°N and 45°S latitude, penetrating to approximately 53°N latitude in Europe. The extensive variation of morphological and adaptive characteristics of the taxon has been substantially documented, but information is lacking on DNA molecular variation in geographically disparate forms. The genetic diversity of 51 wild accessions of bermudagrass from southwest China (Sichuan, Chongqing, Yunnan, Guizhou, and Tibet) and 8 African bermudagrass was analyzed using amplified fragment length polymorphism molecular markers. A total of 670 polymorphic bands were detected with 11 primer combinations, of which 663 (98.74%) bands were found to be polymorphic. The genetic similarity among the accessions ranged from 0.64-0.96 with an average of 0.78. All 59 wild accessions were clustered into 5 eco-geographic groups, and nearly all accessions from the same area were classified into the same group and were found to be associated with their geographical distributions. Therefore, complex geographical and ecological environments are important factors for the genetic structure and geographical distribution of C. dactylon.

The survival behaviour of Vibrio cholerae in cholera epidemics, together with its attributes of virulence-associated genes and molecular fingerprints, are significant for managing cholera epidemics. Here, we selected five strains representative of V. cholerae O1 and O139 involved in cholera events, examined their survival capacity in large volumes of water sampled from epidemic sites of a 2005 cholera outbreak, and determined virulence-associated genes and molecular subtype changes of the surviving isolates recovered. The five strains exhibited different survival capacities varying from 17 to 38 days. The virulence-associated genes of the surviving isolates remained unchanged, while their pulsotypes underwent slight variation. In particular, one waterway-isolated strain maintained virulence-associated genes and evolved to share the same pulsotype as patient strains, highlighting its role in the cholera outbreak. The strong survival capacity and molecular attributes of V. cholerae might account for its persistence in environmental waters and the long duration of the cholera outbreak, allowing effective control measures.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinization, characterized primarily by abnormal skin scaling over the whole body surface. Recently, ARCI has been designated to include the major forms of lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) and harlequin ichthyosis. The first two conditions are the most common major clinical subtypes, and both are caused principally by mutations in the transglutaminase 1 gene, TGM1, although other genes may be responsible in some cases., Aim: To identify the genetic mutations underlying LI in a Chinese family with LI, and to review all the known TGM1 mutations in Chinese patients with ARCI., Methods: The proband had the severe classic LI phenotype, and was a member of a four-generation family with close blood relationships. We sequenced the DNA of the patients and close relatives. We also reviewed 13 Chinese patients with ARCI from 8 reported families, comprising 10 patients with LI, 2 with CIE and 1 with bathing suit ichthyosis., Results: We characterized 14 different TGM1 mutations. Six of these were reported in other ethnic groups initially and later in Chinese patients, while the remaining eight were first described in Chinese patients. Of the latter, five have been reported only in Chinese patients, while the remaining three have also been reported in other ethnic groups., Conclusion: This study expands the current spectrum on TGM1 mutation and increases the knowledge of TGM1 mutation characteristics., (© 2014 British Association of Dermatologists.)

As part of a series of pharmacogenomics studies of the Chinese population, we investigated genetic polymorphisms of some UGT1A regions. The three genes that were analyzed were UGT1A9, 1A7, and 1A1; we sequenced their exons, together with promoters, surrounding introns and 3'-untranslated regions (3'UTR) in 100 unrelated-healthy Chinese Tibetan individuals. We compared the data with information on Han Chinese of the same region, which we downloaded from the HapMap database. We identified 40 polymorphisms; 16 of them were shared by the two populations. We then analyzed their linkage disequilibrium map. The UGT1As cluster can be divided into two linkage blocks in the Tibetan population: Block 1 (UGT1A9, UGT1A7), Block 2 (3'-UTR). Furthermore, we identified haplotypes and selected their tagSNPs. In exon 1 of UGT1A7 gene, 393G>A (Arg131Gln, rs17868324) was found at a frequency of 44.4% in the Tibetan population, compared to only 0.7% in the Han population. The linkage blocks in the Han Chinese sample differed from that of the Chinese Tibetan group; the former had Block 1 (UGT1A9, UGT1A7), Block 2 (UGT1A7), and Block 3 (3'-UTR). These findings provide fundamental information for future molecular genetic studies of the UGT1A gene cluster as well as for personalized medicine in Chinese.

Fifty-five wild accessions of bermudagrass (Cynodon dactylon) were collected from southwest China (Sichuan, Chongqing, Yunnan, Guizhou, and Tibet), and their genetic diversity was analyzed using simple sequence repeat markers. A total of 267 polymorphic bands were detected with 18 primer combinations. The genetic similarity among the accessions ranged from 0.688 to 0.894 with an average of 0.797. All 55 wild accessions were clustered into 7 eco-geographic groups. Our data showed that the dendrogram was almost in accordance with geographic distribution, and accessions from the same collection sites tended to be clustered into the same group. A genetic differentiation analysis revealed that the percentage of genetic variance was 70.07 and 29.93% within and among groups, respectively. Finally, we discuss the implications of these results for C. dactylon in southwest China.

Hemarthria compressa is one of the most important and widely utilized forage crops in south China, owing to its high forage yield and capability of adaptation to hot and humid conditions. We examined the population structure and genetic variation within and among 12 populations of H. compressa in south China using sequence-related amplified polymorphism (SRAP) markers. High genetic diversity was found in these samples [percentage polymorphic bands (PPB) = 82.21%, Shannon's diversity index (I) = 0.352]. However, there was relatively low level of genetic diversity at the population level (PPB = 29.17%, I = 0.155). A high degree of genetic differentiation among populations was detected based on other measures and molecular markers (Nei's genetic diversity analysis: G(ST) = 54.19%; AMOVA analysis: F(ST) = 53.35%). The SRAP markers were found to be more efficient than ISSR markers for evaluating population diversity. Based on these findings, we propose changes in sampling strategies for appraising and utilizing the genetic resources of this species.

The dopamine D2 receptor (DRD2) is a crucial mediator for normal physiological processes. We cloned the pig DRD2 gene, investigated its distribution in tissues and identified polymorphisms by RT-PCR, quantitative real-time PCR and direct sequencing. Two Yorkshire pigs from Guangdong Academy of Agricultural Sciences (Guangzhou, China) were selected to clone the gene and investigate its expression; 16 individuals from four pig breeds (Yorkshire, Landrace, small-ear spotted, and Xinchang) were used to scan the variations. The two transcripts (DRD2L and DRD2S), obtained through insertion or deletion of exon 5 and part of 3'UTR, were found to encode 444- and 415-amino acid proteins, respectively. The 574-bp indel in 3'UTR comprises five miRNA targeting sites, based on bioinformatics predictions. The pig DRD2 gene expresses predominantly in the pituitary gland, and then in oviducts and the hypothalamus. Both DRD2L and DRD2S mRNA were detected in cerebrum, cerebellum, hypothalamus, pituitary gland, back muscle, oviduct, uterus, and testis tissues; DRD2L was more abundant than DRD2S. The DRD2 gene is located on chromosome 9 and contains seven exons. Sixty-one different sequences were identified in this gene; among seven in the coding region, only one altered the encoded amino acid. These findings will help us understand the functions of the DRD2 gene in pigs.

Key inbred lines have played a fundamental role in maize genetics and breeding. Research on variation characteristics of key genes from key inbred lines and from derived lines is important for early identification and evaluation of inbred maize lines. The nitrate reductase (NR) gene, which plays a central role in nitrate acquisition, was the target gene for this research. Forty-one inbred maize lines were investigated, including four key inbred lines: Huangzaosi, Mo17, Dan340, and Ye478. Through multiple sequence alignment with the NR gene from B73, used as a control, we found that: 1) the NR gene of most inbred lines from Huangzaosi and from derived lines had two insertion fragments and two replacement fragments; 2) the NR gene of most inbred lines from Mo17 and derived lines had one insertion fragment and one replacement fragment; 3) there were two common variations and eight common SNPs in the NR gene of the four key lines. Huangzaosi and Mo17 also had three common variations compared with the other key lines. Moreover, Mo17 had some unique variations; there were no unique variations in the other key lines, even for SNPs, and 4) phylogenetic tree analysis showed that the NR gene of the derived lines from the same key line had higher sequence homology. Based on the above NR gene variation characteristics and sequence homology of key inbred lines and derived lines, a candidate inbred line can be preliminarily selected and evaluated by marker development and/or sequence alignment of the NR gene.

In this research, the mechanism regarding the effects of suspended solids on nitrification in freshwater systems with high solid contents was examined. Experimental studies were conducted for natural water of the Yellow River under laboratory conditions. Nitrification kinetics was investigated in water systems with various levels of suspended-solid contents. The associated mechanisms were analyzed through investigation of the adsorption-desorption of ammonium nitrogen, the process of bacteria growth, and the feature of nitrification kinetics. The results indicated that the presence of suspended solids could accelerate the nitrification process. The nitrification rate would increase non-linearly with the increase of suspended-solid content. When the initial concentration of ammonia nitrogen was 12.70 mg/l in the water system, the ratios of half-time duration for nitrification would be 1.88:1.23:1 under suspended-solid contents of 0, 1.84 and 5.00 g/l, respectively. When the initial concentration of ammonia nitrogen was around 1.0 mg/l in the water system, the nitrification rates in systems with suspended-solid contents of 1.81 and 3.42 g/l would then be approximately 9 and 12 times that without suspended solids, respectively. The populations of nitrifying bacteria would rise with increasing suspended-solid content. The existence of suspended solids would increase the contact chances between bacteria and nitrogen, resulting in accelerated nitrification processes; this was manifested by the increased K(4) (tau(max)/K(S)) along with the raised suspended-solid contents while fitting nitrification kinetics with the growth-based logistic model. Since the amount of ammonium nitrogen adsorbed on suspended-solid surface was non-linearly proportional to the suspended-solid content, the nitrification rate was also non-linearly proportional to the suspended-solid content.

Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. The characteristic genetic lesion in dominant DEB (DDEB) is a glycine substitution in the collagenous domain of the protein. In this study, we identified a Chinese family with a four-generation pedigree of DDEB, in whom a novel glycine substitution mutation in COL7A1 was demonstrated. A heterozygous nucleotide G-->A transition at position 6208 in exon 74 of COL7A1 was detected, which resulted in a glycine to arginine substitution (G2070R) in the triple-helical domain of type VII collagen. This substitution was not found in 110 unrelated normal alleles. This report emphasizes the predominance of glycine substitution mutations in DDEB and contributes to the expanding database on COL7A1 mutations.

Genetic variation of 31 blood protein loci in 236 cattle from eight South China populations (including mithan, Bos frontalis) and a Holstein population was investigated by means of horizontal starch gel electrophoresis. Thirteen loci (ALB, CAR, Hb-b, Np, PGM, Amy-I, PEP-B, AKP, 6PGD, Cp, Pa, EsD, and TF) were found to be polymorphic. The comparison of average heterozygosities (H) shows that all the native cattle embrace a rich genetic diversity. Our results on protein polymorphism suggest that cattle in China originated mainly from Bos indicus and Bos taurus; Xuwen, Hainan, Wenshan, and Dehong cattle and the Dehong zebu are close to zebu-type cattle, and Diqing and Zhaotong cattle are close to the taurine. The mithan was very different from other native cattle, and we suggest that its origin was complicated and may be influenced by other cattle species.

We have cloned the junction region of the previously characterized Yunnanese (Agammadeltabeta)0-thalassemia deletion and the normal DNA region surrounding its 3' breakpoint. The sequence of 1138 bp of the 3'-flanking region and 555 bp of the normal region surrounding the 3' breakpoint was determined. The 5' breakpoint of the deletion is positioned between 116 and 117 bp upstream of the Agamma-globin gene, and the 3' breakpoint at 34 bp downstream of the BglII site that lies approximately 12.7 kb upstream of the 3' deletion breakpoint of Chinese (Agammadeltabeta)0-thalassemia. There is no significant homology between the normal DNAs flanking the 5' and 3' breakpoints, except 2-bp (TG) identity and two pairs of short direct repeats at the deletion junction. The 3' breakpoint is within an L1 family sequence that normally occurs about 66 kb downstream of the beta-globin gene in 11p15. This L1 element is partially in reversed orientation at the 5' side and is therefore, presumably, an inactive element. This type of junction indicates illegitimate DNA breakage and end-joining involving the L1 sequence. Similar to many other deletions in the beta-globin locus, the Yunnanese (Agammadeltabeta)0-thalassemia deletion lacks a sequence characteristic of defined recombination factors near the deletion junction, suggesting that chromatin configuration and other locus-specific features are important. Computer-aided analysis revealed that several transcriptional factors could bind to putative motifs present in the 3'-flanking sequence. It is possible that binding features of the distal L1 element are required to generate a suitable chromatin configuration for the recombination event in Yunnanese (Agammadeltabeta)0-thalassemia. This may also be related to the reactivation of the Ggamma-globin gene in adults with the Yunnanese (Agammadeltabeta)0-thalassemia mutation.

The monthly cercaria shedding of 90 artificially infected Oncomelania snails was observed under a field condition in mountainous region, Shitoudi Village, Weishan County, Yunnan Province. The results showed that 20% of teh snails shed cercaria monthly, 42.2% could shed irregularly and 37.8% stopped releasing cercariae after several times of shedding. Final direction of the snails showed that none cercaria or sporocyst could be found in part of the snails. A total of 304 naturally infected snails were observed individually every month. Samples were taken each month from the snails which did not shed cercaria, then dissected and examined. The negative conversion rate was calculated in the second, third, fourth, fifth and sixth month after the first shedding, which were 36.1, 50.0, 41.0, 39.8 and 2.6% respectively.