[Risk factors for neonatal asphyxia and establishment of a nomogram model for predicting neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture: a multicenter study]. / æ¹–åŒ—æ©æ–½åœŸå®¶æ—è‹—æ—è‡ªæ²»å·žæ–°ç”Ÿå„¿çª’æ¯å±é™©å› ç´ åˆ†æžåŠåˆ—çº¿å›¾é¢„æµ‹æ¨¡åž‹çš„æž„å»ºï¼šä¸€é¡¹å¤šä¸­å¿ƒç ”ç©¶.

OBJECTIVES: To investigate the risk factors for neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture and establish a nomogram model for predicting the risk of neonatal asphyxia. METHODS: A retrospective study was conducted with 613 cases of neonatal asphyxia treated in 20 cooperative hospitals in Enshi Tujia and Miao Autonomous Prefecture from January to December 2019 as the asphyxia group, and 988 randomly selected non-asphyxia neonates born and admitted to the neonatology department of these hospitals during the same period as the control group. Univariate and multivariate analyses were used to identify risk factors for neonatal asphyxia. R software (4.2.2) was used to establish a nomogram model. Receiver operator characteristic curve, calibration curve, and decision curve analysis were used to assess the discrimination, calibration, and clinical usefulness of the model for predicting the risk of neonatal asphyxia, respectively. RESULTS: Multivariate logistic regression analysis showed that minority (Tujia), male sex, premature birth, congenital malformations, abnormal fetal position, intrauterine distress, maternal occupation as a farmer, education level below high school, fewer than 9 prenatal check-ups, threatened abortion, abnormal umbilical cord, abnormal amniotic fluid, placenta previa, abruptio placentae, emergency caesarean section, and assisted delivery were independent risk factors for neonatal asphyxia (P<0.05). The area under the curve of the model for predicting the risk of neonatal asphyxia based on these risk factors was 0.748 (95%CI: 0.723-0.772). The calibration curve indicated high accuracy of the model for predicting the risk of neonatal asphyxia. The decision curve analysis showed that the model could provide a higher net benefit for neonates at risk of asphyxia. CONCLUSIONS: The risk factors for neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture are multifactorial, and the nomogram model based on these factors has good value in predicting the risk of neonatal asphyxia, which can help clinicians identify neonates at high risk of asphyxia early, and reduce the incidence of neonatal asphyxia.

Cloning, expression and characterization of two S-ribosylhomocysteine lyases from Lactobacillus plantarum YM-4-3: Implication of conserved and divergent roles in quorum sensing.

Quorum sensing (QS) is a means of cell-to-cell communication that regulates, via small signalling molecules, expression of a series of genes and controls multicellular behaviour in many bacterial species. The enzyme S-ribosylhomocysteine lyase (LuxS) transforms S-ribosylhomocysteine (SRH) into 4, 5-dihydroxy-2, 3-pentanedione (DPD), the precursor of the interspecies QS signalling molecule autoinducer-2 (AI-2). In this study, two LuxS-coding genes, luxS1 and luxS2, with 70% sequence identity were isolated from Lactobacillus plantarum YM-4-3, and overexpressed in Escherichia coli BL21 (DE3), and the protein products were purified successfully. After incubation of LuxS1 or LuxS2 with SRH, the reaction products were able to induce Vibrio harveyi BB170 bioluminescence, clearly demonstrating that both LuxS1 and LuxS2 synthesize AI-2 from SRH in vitro. Ellman's assay results revealed optimal temperatures for LuxS1 and LuxS2 of 45 and 37 °C, respectively, and their activities were stimulated or inhibited by several metal ions and chemical reagents. In addition, enzyme kinetics data showed that Km, Vmax and Kcat value of LuxS1 for the substrate (SRH) were higher than that of LuxS2. These results suggest that LuxS1 and LuxS2 mediate QS in a temperature-dependent manner and may play conserved roles in AI-2 synthesis but exhibit different activities in response to external environmental stress. To our knowledge, this paper is the first report of two luxS genes present in one bacterial genome and the subsequent comparative elucidation of their functions in AI-2 production. Collectively, our study provides a solid basis for future research concerning the AI-2/LuxS QS system in L. plantarum YM-4-3.

[Thulium laser vaporization versus transurethral resection of the prostate and risk factors for postoperative urethral stricture].

OBJECTIVE: To compare thulium laser vaporization of the prostate (TLVP) and transurethral resection of the prostate (TURP) in the treatment of benign prostate hyperplasia (BPH) analyze the risk factors for postoperative urethral stricture. METHODS: From June 2015 to June 2016, 210 BPH patients in our hospital underwent TURP (n = 126) or TLVP (n = 84). We followed up the patients for 6 months, compared the effects of the two surgical strategies and analyzed the risk factors for postoperative urethral stricture by multivariate logistic regression analysis. RESULTS: Compared with TURP, TLVP achieved significantly shorter time of operation (ï¼»78.6 ± 27.5ï¼½ vs ï¼»53.2 ± 21.6ï¼½ min, P <0.01), postoperative bladder irrigation (ï¼»31.5 ± 2.9ï¼½ vs ï¼»26.1 ± 3.7ï¼½ h, P <0.01), urethral catheterization (ï¼»5.3 ± 1.7ï¼½ vs ï¼»3.7 ± 1.5ï¼½ d, P <0.01) and postoperative hospitalization (ï¼»7.9 ± 2.1ï¼½ vs ï¼»5.5 ± 1.4ï¼½ d, P <0.01) as well as lower urinary leukocyte count at 6 months after surgery (ï¼»32.1 ± 12.6ï¼½ vs ï¼»24.9 ± 11.7ï¼½ /µl, P <0.01) and incidence rate of postoperative complications (11.9% ï¼»15/126ï¼½ vs 3.6% ï¼»3/84ï¼½, P <0.05), particularly that of urethral stricture (7.9% ï¼»10/126ï¼½ vs 1.2% ï¼»1/84ï¼½, P <0.05). Logistic regression analysis showed that the preoperative urinary leukocyte count, postoperative urethral catheterization time, and surgical method were independent risk factors for postoperative urethral stricture. CONCLUSIONS: TLVP, in comparison with TURP, has the advantages of definite effect, fast recovery, high safety and low incidence of postoperative urethral stricture. The main risk factors for postoperative urethral stricture include preoperative urinary tract infection, postoperative urethral catheterization time and surgical method.

Characterization of the spatial variability of soil available zinc at various sampling densities using grouped soil type information.

The influence of anthropogenic activities and natural processes involved high uncertainties to the spatial variation modeling of soil available zinc (AZn) in plain river network regions. Four datasets with different sampling densities were split over the Qiaocheng district of Bozhou City, China. The difference of AZn concentrations regarding soil types was analyzed by the principal component analysis (PCA). Since the stationarity was not indicated and effective ranges of four datasets were larger than the sampling extent (about 400 m), two investigation tools, namely F3 test and stationarity index (SI), were employed to test the local non-stationarity. Geographically weighted regression (GWR) technique was performed to describe the spatial heterogeneity of AZn concentrations under the non-stationarity assumption. GWR based on grouped soil type information (GWRG for short) was proposed so as to benefit the local modeling of soil AZn within each soil-landscape unit. For reference, the multiple linear regression (MLR) model, a global regression technique, was also employed and incorporated the same predictors as in the GWR models. Validation results based on 100 times realization demonstrated that GWRG outperformed MLR and can produce similar or better accuracy than the GWR approach. Nevertheless, GWRG can generate better soil maps than GWR for limit soil data. Two-sample t test of produced soil maps also confirmed significantly different means. Variogram analysis of the model residuals exhibited weak spatial correlation, rejecting the use of hybrid kriging techniques. As a heuristically statistical method, the GWRG was beneficial in this study and potentially for other soil properties.

Significant loss of soil inorganic carbon at the continental scale.

Widespread soil acidification due to atmospheric acid deposition and agricultural fertilization may greatly accelerate soil carbonate dissolution and CO2 release. However, to date, few studies have addressed these processes. Here, we use meta-analysis and nationwide-survey datasets to investigate changes in soil inorganic carbon (SIC) stocks in China. We observe an overall decrease in SIC stocks in topsoil (0-30 cm) (11.33 g C m-2 yr-1) from the 1980s to the 2010s. Total SIC stocks have decreased by ∼8.99 ± 2.24% (1.37 ± 0.37 Pg C). The average SIC losses across China (0.046 Pg C yr-1) and in cropland (0.016 Pg C yr-1) account for ∼17.6%-24.0% of the terrestrial C sink and 57.1% of the soil organic carbon sink in cropland, respectively. Nitrogen deposition and climate change have profound influences on SIC cycling. We estimate that ∼19.12%-19.47% of SIC stocks will be further lost by 2100. The consumption of SIC may offset a large portion of global efforts aimed at ecosystem carbon sequestration, which emphasizes the importance of achieving a better understanding of the indirect coupling mechanisms of nitrogen and carbon cycling and of effective countermeasures to minimize SIC loss.

Rosmarinic acid inhibits proliferation and induces apoptosis of hepatic stellate cells.

Hepatic stellate cells (HSCs), activated during liver injury, are defined as the most important target in the therapy of hepatic fibrosis. In the present study, we evaluated the effect of Rosmarinic acid (RosA) on the proliferation and apoptosis in activated hepatic stellate cells (HSC-T6), which is useful to decrease this cell population. The proliferation of HSC-T6 was significantly inhibited after treated with various concentrations of RosA for different times. Flow cytometric analyses and transmission electron microscope (TEM) observations revealed that HSC-T6 treated with RosA underwent apoptosis in a time dependent manner and displayed typical apoptotic features in the cells. The phosphorylation in signal transducer and activator of transcription protein-3 (STAT3), which regulates cell survival, proliferation and differentiation in a variety of tissues, was markedly decreased as the result of Western blot assay and correlated with downregulation of CyclinD1 and B cell lymphoma/leukemia-2 (Bcl-2). In conclusion, these results suggested that RosA was able to inhibit proliferation and induce apoptosis in HSC-T6, partly due to the inhibition of phosphorylation in STAT3, which contributed to the reversal of hepatic fibrosis.

Astaxanthin induces mitochondria-mediated apoptosis in rat hepatocellular carcinoma CBRH-7919 cells.

We designed to study the role of mitochondria in astaxanthin-induced apoptosis in hepatocellular carcinoma cells. Effect of astaxanthin on cell proliferation was studied by using methyl thiazolyl tetrazolium (MTT) in three tumor cell lines (CBRH-7919, SHZ-88 and Lewis) and normal human hepatocyte HL-7702 cell. Cell apoptosis rate, changes of mitochondrial morphology, mitochondrial transmembrane potential and electron transport chain were evaluated respectively. Expressions of B cell lymphoma/leukemia-2 (Bcl-2) and Bcl-2 associated X protein (Bax) were detected by Western blot. Results as following, astaxanthin had little effect on HL-7702 cell, however its inhibition was most pronounced in CBRH-7919 cell line with an IC50 of 39 µM. This dose of astaxanthin and CBRH-7919 cell line were chosen for further studies. Astaxanthin could induce cell apoptosis and mitochondrial membrane damage. The mitochondrial transmembrane potential and function of electron transport chain were decreased. The expression of Bcl-2 protein was down-regulated but that of Bax protein was up-regulated. In conclusion, astaxanthin showed anticancer effect by inducing cell apoptosis through the regulation of mitochondrial-dependent manner.

[Remote sensing monitoring and pre-alarming of algal blooms in Taihu Lake].

The explosive growth of algae in inland water bodies is one of the major water environmental problems in China, and it's very important to monitor the dynamic of algae in both temporal and spatial scales. In the present paper, a model, which was used to extract the algae information from the water body of Taihu Lake using MODIS data, was established based on the remote sensing index and image false color composite methods. Using this model, we studied the algae explosive growth formation process between March and May in 2007. Through the analysis of the temporal and spatial distribution features of the algae outbreak between the spring and summer seasons, an early warning method of algal blooms was proposed, that is, when the MODIS green index mainly concentrated in the range between 0. 6 and 0. 8, the water body of Taihu Lake can be considered to have been in the early alarming stage of algal blooms.

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia.

BACKGROUND: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing's syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of years, leading to delayed onset with severe conditions due to chronic mild hypercortisolism. About 20-50% cases were found to be caused by inactivating mutation of armadillo repeat-containing protein 5 (ARMC5) gene. CASE PRESENTATION: A 51-year-old man was admitted for severe diabetes mellitus, resistant hypertension, centripedal obesity and edema. PBMAH was diagnosed after determination of adrenocorticotropic hormone and cortisol levels, dexamethasone suppression tests and abdominal contrast-enhanced CT scanning. The metabolic disorders of the patient remarkably improved after sequentially bilateral laparoscopic adrenalectomy combined with hormone replacement. Sanger sequencing showed germline nonsense mutation of ARMC5 c.967C>T (p.Gln323Ter). The second somatic missense mutation of ARMC5 was detected in one out of two resected nodules, reflecting the second-hit model of tumorigenesis. Routine genetic testing in his apparently healthy offspring showed one of two daughters and one son harbored the germline mutation. CONCLUSIONS: In conclusion, our case report highlight the importance of genetic testing in the molecular diagnosis of PBMAH. Genetic screening in related family members will find out asymptomatic variant carriers to guide life-long follow-up.

[Effect of Qihong capsule on HeLa cells infected by coxsackievirus B3 in vitro].

OBJECTIVE: To investigate the effects of Qihong capsule (QH) on HeLa cells infected by coxsackievirus B3 (CVB3) in vitro and its potential antiviral mechanism. METHODS: HeLa cells were infected by CVB3 in vitro. XTT assay and plaque inhibition assay were performed to determine the 50 % effective dose, (ED50), 50 % inhibitory concentration (IC50), and 50% cytotoxicity concentration (CC50) of QH and the control drug, ribavirin. The total therapeutic index (TI) was calculated. Anti-viral time-course experiments were performed to compare the anti-viral effects at different time points. The inhibitory effects of QH on the attachment and penetration of CVB3 were also observed. RESULTS: XTT assay and plaque inhibition assay showed that the ED50 and IC50 were (7.16+/-0.80) mg/L and (2.63+/-0.50) mg/L in QH group and (4.35+/-0.40) mg/L and (1.92+/-0.30) mg/L in ribavirin group, respectively. CC50 was 16-fold higher in QH group than in ribavirin group QH: (1 648+/-219) mg/L vs. Ribavirin: (103+/-14) mg/L. Time-course studies demonstrated that antiviral effect of QH was mainly found 0-4 hours after infection. QH effectively blocked the attachment and penetration of CVB3 into cells. CONCLUSION: By inhibiting the attachment and penetration of CVB3, QH can effectively inhibit the invasion of virus in vitro with low toxicity.

[Quantitative remote sensing retrieval for algae in inland waters].

Chlorophyll is a very important indictor for the eutrophication status of lake water body. Using remotely sensed data to achieve real-time dynamic monitoring of the spatial distribution of chlorophyll has great importance. This paper aims to find the best band for the hyperspectral ratio model of chlorophyll-a, and take advantage of this model to implement remote sensing retrieval of algae in Taihu Lake. By the analysis of the spectral reflectance and water quality sampling data of the surface water body, the regression model between the ratio of reflectance and chlorophyll-a was built, and it was showed that the ratio model between the wavelengths around 700 and 625 nm had a relatively high coefficient value of determination (R2), while the ratio model constructed with 710 nm and visible wavelengths showed a descended R2 following with the increment of the visible wavelengths. Combined with in-situ water samplings analysis and spectral reflectance measurement, the results showed that it's possible to retrieve algae water body using the MODIS green index (GI). The spatial distributions of chlorophyll-a and algae in Taihu Lake were extracted successfully using MODIS data with the algorithm developed in this paper.

[Relationship between simulated acid rain stress and leaf reflectance].

Acid rain is a worldwide environmental problem. Serious acid rain pollution in subtropical China has constituted a potential threat to the health of the local forest. In the present paper, the changing properties of the chlorophyll concentration and spectral reflectance at the visible wavelengths for the six subtropical broad-leaved tree species leaves under simulated acid rain (SAR) treatment with different pH levels were studied. With the increasing strength of the SAR, the chlorophyll concentrations of the experimental species under pH 2.5 and pH 4.0 treatment were higher than that under pH 5.6; the spectral reflectance at the visible wavelengths for pH 2.5 and pH 4.0 were lower than that for pH 5.6 in general; while there weren't significant differences between pH 2.5 and pH 4.0. After the treatment with different levels of SAR, the differences in spectral reflectance at the visible wavelengths mainly focused around the green peak and red edge on the reflectance curve. The subtropical broad-leaved tree species studied were relatively not sensitive to acid rain stresses; some stronger acid rain may accelerate the growth of the tree species used here to some extent.

Polymorphisms of angiotensin-converting enzyme (ACE) and ACE2 are not associated with orthostatic blood pressure dysregulation in hypertensive patients.

AIM: The genetic background of orthostatic blood pressure dysregulation remains poorly understood. Since the renin-angiotensin system plays an important role in blood pressure regulation and response to position change, we hypothesized that angiotensin-converting enzyme (ACE) and ACE2 genetic polymorphisms might contribute, at least partially, to orthostatic blood pressure dysregulation in hypertensive patients. METHODS: Two tag single nucleotide polymorphisms (SNPs) of ACE2 and ACE I/D were genotyped in 3630 untreated hypertensive patients and 826 normotensive subjects. Orthostatic hypertension was defined as an increase in systolic blood pressure of 20 mmHg or more and orthostatic hypotension as a drop in blood pressure of 20/10 mmHg or more within three minutes of assumption of upright posture. RESULTS: Female and male patients had similar rates of orthostatic hypertension (16.5% vs 15.3%) and hypotension (22.5% vs 23.8%). No significant differences were detected in the minor allele frequency of ACE2 rs2106809, rs2285666, or ACE I/D in either female or male patients with orthostatic hypertension (15.1%, 22.7%, 19.6%, respectively), hypotension (13.8%, 25%, 16.5%), or normal orthostatic blood pressure response (14.4%, 21.9%, 15.8%) in additive, dominant or recessive models after adjustment for confounders (all P>0.05). The orthostatic changes in systolic and diastolic blood pressure were also comparable among patients carrying different genotypes. Similar results were observed in normotensive subjects. CONCLUSION: These data provide no support for the involvement of ACE or ACE2 in the genetic predisposition to orthostatic hypotension or hypertension.

[The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy].

To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy (HCM), peripheral blood samples were collected from 7 members of a Chinese HCM family, and 120 normal subjects were recruited as control. The full encoding exons and flanking sequences of the cardiac troponin T (TNNT2) gene, beta-myosin heavy chain (MYH7) gene and myosin binding protein C (MYBPC3) gene were amplified and the products were sequenced directly to detect the mutations. A missense mutation, c.1273G>A, was identified in exon 14 of the MYH7 gene in 4 members of the Chinese HCM family, which resulted a glycine (Gly) to arginine (Arg) exchange at amino acid residue 425. The 425th glycine amino acid residue is highly conservative across the different species. The clinical phenotypes among the family members who carried this mutation presented significant individual differences. The c.1273G>A mutation of the MYH7 gene might be the causal mutation of the familial HCM. The heterogeneity of phenotypes suggested that multiple factors may be involved in the pathogenesis of HCM.

Intra-horizon differentiation of the bacterial community and its co-occurrence network in a typical Plinthic horizon.

Subsurface soil bacterial community composition and the controlling factors remain largely unknown, especially the micro-zone differentiation of community composition within a horizon. We studied a plinthic horizon to determine how different micro-zones in a horizon affect the bacterial community. The plinthic horizon is a net-like horizon characterized by the segregation of iron forms as shown by contrasting red matrix and white veins, which share common macro-environmental conditions such as climate and land use but differ only in physical and chemical compositions. The studied horizon is typical of the red soils of southeastern China and is an important layer in the red soil Critical Zone. The plinthite is considered to have been formed in the Quaternary and thus is a record of the paleo-environment. We evaluated the difference in the bacterial community composition between the red matrix and white veins and explored the possible assembly mechanisms of their co-occurrence patterns. Compared to the eutrophic environments of a red matrix, higher relative abundances of Acidobacteria and Nitrospirae were observed in the white veins. Similarly, more niches led to a higher density of bacterial co-occurrence patterns in the red matrix. The differences in the bacterial community composition and association networks are due to environmental selection, including the legacy of the paleoclimate that is represented by major element contents and contemporary hydrological properties that are mainly controlled by the soil texture. Our study shows that micro-zones even within a same plinthic horizon can provide different habitats and thus select for specific bacterial communities. Furthermore, this study could improve our understanding of the differentiation of bacterial communities among microenvironments caused by both historical and contemporary processes and help to predict how these communities may respond to future environmental changes.

Ghrelin receptor gene polymorphisms are associated with female metabolic syndrome in Chinese population.

BACKGROUND: The ghrelin plays an important role in the regulation of food intake and energy homeostasis. Therefore, the ghrelin receptor gene (GHSR) is an excellent candidate for studying metabolic syndrome. This study aimed to investigate whether polymorphisms in ghrelin receptor gene are associated with metabolic syndrome in Chinese population. METHODS: Subjects consisted of 698 patients aged 41 to 80 years, diagnosed as metabolic syndrome by International Diabetes Federation (IDF) 2005 criteria, and 762 age- and gender-matched controls. Three variants within the GHSR were selected and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Odds ratios were estimated using a case-control study design by controlling confounding factors. RESULTS: The A/A genotype (rs2922126) in the promoter was associated with metabolic syndrome (OR 1.41, 95% CI 1.03-1.94), increased waist circumference (OR 1.75, 95% CI 1.26-2.42), and increased fast blood glucose (OR 1.49, 95% CI 1.07-2.06) in women. The A/A genotype (rs509030) in the intron was associated with lower plasma high density lipoprotein in women (OR 1.37, 95% CI 1.02-1.84). CONCLUSION: The polymorphisms within GHSR might be a genetic risk factor for metabolic syndrome in women.

Cardiovascular risk and prevalence of metabolic syndrome by differing criteria.

BACKGROUND: The prevalence of metabolic syndrome (MetS) in hypertensive population in Chinese countryside is unknown. Firstly, this study compared the prevalence of MetS according to National Cholesterol Education Program (NCEP) ATPIII, revised NCEP and International Diabetes Federation (IDF) definitions. Secondly, it investigated the association between MetS, coronary heart disease (CHD) and stroke in patients with hypertension. METHODS: In this cross sectional study, the cluster sampling method was used. Three MetS definitions were applied to 1418 normal subjects and 5348 hypertensive patients aged 40-75 years in rural areas in China. The agreement between different MetS definitions was estimated by kappa statistics. Logistic regression analyses determined the association between MetS defined by the three MetS definitions and CHD and stroke. RESULTS: In subjects without hypertension, the prevalence of Mets was 4.1% by NCEP definition, 8.3% revised NCEP definition and 7.8% IDF definition. In hypertensive individuals, the prevalence was 14.0%, 32.9%, and 27.4% in men; 35.6%, 53.1%, and 50.2% in women by the same definitions, respectively. In hypertensive individuals, the agreement was 94.4% in men and 97.0% in women between revised NCEP and IDF definitions. The IDF defined MetS was more strongly associated with CHD than the NCEP or revised NCEP defined MetS (adjusted odds ratio: 1.92 compared with 1.85 and 1.69 in men; 1.64 compared with 1.48 and 1.60 in women). CONCLUSIONS: In the patients with hypertension, the revised NCEP and IDF definitions identified more individuals than NCEP definition and their agreement is very high. The IDF defined MetS is more strongly associated with CHD than the NCEP or revised NCEP defined MetS, but weakly or not associated with stroke.

Polymorphisms of angiotensin-converting enzyme 2 gene associated with magnitude of left ventricular hypertrophy in male patients with hypertrophic cardiomyopathy.

BACKGROUND: Even carrying an identical gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hypertrophic cardiomyopathy (HCM). Modifier genes may contribute to the diversity. Angiotensin-converting enzyme 2 (ACE2) gene has been established to be associated with parameters of left ventricular hypertrophy in community based male subjects. The objective of the present study was to investigate the association of ACE2 gene polymorphisms with the phenotype of HCM. METHODS: A total of 261 consecutive HCM patients and 609 healthy controls were enrolled into this study. The polymorphism of rs2106809 and rs6632677 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and confirmed by sequencing. Logistic regression model and multivariate analysis were used to determine the odds ratio (OR) and 95% confidence intervals (CI) of variations of ACE2 for HCM. RESULTS: The T allele of rs2106809 and C allele of rs6632677 conferred increasing risk for HCM (OR 1.34, 95% CI 1.01 - 1.77, P = 0.04; OR 1.11, 95% CI 1.03 - 1.21, P = 0.002, respectively), and the 2 single nucleotide polymorphisms (SNPs) were in strong linkage disequilibrium (LD), the TC haplotype was independently associated with a higher OR for HCM (OR = 1.59, 95% CI 1.21 - 1.87) after adjusted for conventional risk factors. And the risk alleles were associated with thicker interventricular septal thickness of HCM ((20.0 +/- 6.3) mm vs (17.9 +/- 5.5) mm, P = 0.03 and (21.3 +/- 5.9) mm vs (17.9 +/- 5.8) mm, P = 0.04, respectively). No association was found between the two polymorphisms with female patients with HCM. CONCLUSION: Minor alleles of ACE2 gene might be the genetic modifier for the magnitude of left ventricular hypertrophy in male patients with HCM.

[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese].

OBJECTIVE: To study the disease-causing gene mutations in familial hypertrophic cardiomyopathy (HCM) in Chinese and to reveal the relationship between the genotype and the phenotype. METHODS: Peripheral blood samples were collected from 12 members of a HCM family, and 120 healthy volunteers in China. PCR and double deoxygenation chain termination method were used to analyze the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7) gene and myosin binding protein C gene (MYBPC3) and to detect mutations. RESULTS: Mutation G14452A was identified in exon 22 of MYH7 gene in 4 family members, causing the conversion of glycine (G) into glutamic acid (E). The onset ages and clinical manifestations of the family members carrying the mutation G823E, including 2 patients (the proband, male, with the onset age of 51, and his 26-year-old second son with the onset age of 20), and 2 carriers (his 31-year-old elder son and 29-year-old elder daughter), presented significant individual differences. CONCLUSIONS: The G823E mutation of MYH7 gene is the causal mutation of familial HCM. The heterogeneity of phenotypes suggests that multiple factors may be involved in the pathogenesis of HCM.

[The genotype-phenotype correlation of MYH7 gene G15391A mutation and MYBPC3 gene G12101A mutation in familial hypertrophic cardiomyopathy].

OBJECTIVE: To reveal genotype-phenotype correlation of disease-causing gene mutations in Chinese hypertrophic cardiomyopathy (HCM) pedigree. METHODS: Peripheral venous blood samples were collected from two Chinese HCM families and 120 healthy subjects were recruited as normal control. The full encoding exons and flanking sequences of the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7) and myosin binding protein C gene (MYBPC3) were amplified with the polymerase chain reaction method, DNA sequencing was used to detect the mutation. RESULTS: In ZZJ family, mutation G12101A was identified in exon 21 of MYBPC3 gene in 4 family members [the arginine (R) converted to histidine (H)]. In this pedigree, three out of eight family members were diagnosed as HCM and with a penetrance of 75%. In FHL family, mutation G15391A was identified in exon 23 of MYH7 gene in 3 family members [the glutamic acid (E) converted to lysine (K)]. In this pedigree, three out of six family members were diagnosed as HCM and with a penetrance of 100%. Echocardiography showed obstruction of left ventricular outflow tract in two out of the three HCM patients. CONCLUSIONS: Our results showed that the G12101A mutation of MYBPC3 gene is the causal mutation of familial HCM with mild phenotype. The G15391A mutation of MYH7 gene is the causal mutation of familial HCM with malignant phenotype and a penetrance of 100%. Screening mutations in the MYH7 gene should be viewed as a reasonable procedure in obstructive HCM patients.