Interpretation of the updates of the NCCN esophageal and esophagogastric junction cancers clinical practice guidelines in oncology (version 3. 2023) / 中国胸心血管外科临床杂志

@#Esophageal cancer is the seventh most common cancer worldwide. On August 29, 2023, National Comprehensive Cancer Network (NCCN) released the NCCN esophageal and esophagogastric junction cancers clinical practice guidelines in oncology (version 3. 2023). This article aims to highlight the key updates in treatment and follow-up recommendations between the version 3 and the version 2 in 2023, providing the latest guidance for the management of esophageal cancer in our country.

KLF6 facilitates differentiation of odontoblasts through modulating the expression of P21 in vitro / 国际口腔科学杂志·英文版

Multiple signaling pathways are involved in the regulation of cell proliferation and differentiation in odontogenesis and dental tissue renewal, but the details of these mechanisms remain unknown. Here, we investigated the expression patterns of a transcription factor, Krüppel-like factor 6 (KLF6), during the development of murine tooth germ and its function in odontoblastic differentiation. KLF6 was almost ubiquitously expressed in odontoblasts at various stages, and it was co-expressed with P21 (to varying degrees) in mouse dental germ. To determine the function of Klf6, overexpression and knockdown experiments were performed in a mouse dental papilla cell line (iMDP-3). Klf6 functioned as a promoter of odontoblastic differentiation and inhibited the proliferation and cell cycle progression of iMDP-3 through p21 upregulation. Dual-luciferase reporter assay and chromatin immunoprecipitation showed that Klf6 directly activates p21 transcription. Additionally, the in vivo study showed that KLF6 and P21 were also co-expressed in odontoblasts around the reparative dentin. In conclusion, Klf6 regulates the transcriptional activity of p21, thus promoting the cell proliferation to odontoblastic differentiation transition in vitro. This study provides a theoretical basis for odontoblast differentiation and the formation of reparative dentine regeneration.

Progress in research of risk factors of iron deficiency and intervention in blood donors / 中华流行病学杂志

Long-term repeated regular blood donation may result in the loss and deficiency of iron. Epidemiological studies have indicated that blood donation frequency, demographical characteristics, and genetic factors are associated with iron deficiency. Our review summarizes the progress in research of etiology of iron deficiency in blood donors and intervention measures to provide evidence for the health management of non-remunerated blood donors in China.

Association study between haplotypes of WNT signaling pathway genes and nonsyndromic oral clefts among Chinese Han populations / 北京大学学报(医学版)

OBJECTIVE@#To explore whether WNT signaling pathway genes were associated with non-syndromic oral clefts (NSOC) based on haplotypes analyses among 1 008 Chinese NSOC case-parent trios.@*METHODS@#The genome-wide association study (GWAS) data of 806 Chinese non-syndromic cleft lip with or without cleft palate (NSCL/P) trios and 202 Chinese non-syndromic cleft palate (NSCP) case-parent trios were drawn from the International Consortium to Identify Genes and Interactions Controlling Oral Clefts (ICOCs) study GWAS data set, whose Chinese study population were recruited from four provinces in China, namely Taiwan, Shandong, Hubei, and Sichuan provinces. The process of DNA genotyping was conducted by the Center for Inherited Disease Research in the Johns Hopkins University, using Illumina Human610-Quad v.1_B Bead Chip. The method of sliding windows was used to determine the haplotypes for analyses, including 2 SNPs haplotypes and 3 SNPs haplotypes. Haplotypes with a frequency lower than 1% were excluded for further analyses. To further assess the association between haplotypes and NSOC risks, and the transmission disequilibrium test (TDT) was performed. The Bonferroni method was adopted to correct multiple tests in the study, with which the threshold of statistical significance level was set as P < 0.05 divided by the number of tests, e.g P < 3.47×10-4 in the current stu-dy. All the statistical analyses were performed by using plink (v1.07).@*RESULTS@#After quality control, a total of 144 single nucleotide polymorphisms (SNPs) mapped in seven genes in WNT signaling pathway were included for the analyses among the 806 Chinese NSCL/P trios and 202 Chinese NSCP trios. A total of 1 042 haplotypes with frequency higher than 1% were included for NSCL/P analyses and another 1 057 haplotypes with frequency higher than 1% were included for NSCP analyses. Results from the TDT analyses showed that a total of 69 haplotypes were nominally associated with the NSCL/P risk among Chinese (P < 0.05). Another 34 haplotypes showed nominal significant association with the NSCP risk among Chinese (P < 0.05). However, none of these haplotypes reached pre-defined statistical significance level after Bonferroni correction (P>3.47×10-4).@*CONCLUSION@#This study failed to observe any statistically significant associations between haplotypes of seven WNT signaling pathway genes and the risk of NSOC among Chinese. Further studies are warranted to replicate the findings here.

Nuocytes from mesenteric lymph node promote allergic responses in a mouse model / Nuócitos de linfonodo mesentérico promovem respostas alérgicas em um modelo de camundongo

Abstract Introduction: Nuocytes play an important role in Type 2 immunity. However, the contribution of ILC2s to allergic rhinitis remains to be clearly elucidated. Objective: To evaluate the role of nuocytes from mesenteric lymph node on allergic responses in mice. Methods: After intraperitoneal administration of interleukin IL-25 and IL-33 to wild-type and Il17br-/-Il1rl1-/- double-deficient mice, nuocytes were purified from the the nasal-associated lymphoid tissue and mesenteric lymph nodes. Then, we assessed productions of IL-5 and IL-13 in nuocytes' cultures. Finally, we adoptively transferred the mesenteric lymph node-derived nuocytes from wild-type and Il17br-/-Il1rl1-/- mice to the murine model of allergic rhinitis to evaluate their roles in nasal allergic responses. Results: We showed that nuocytes in the mesenteric lymph nodes of wild-type mice were upregulated after application of IL-25 and IL-33, and were induced to produce IL-5 and IL-13. Numbers of sneezing and nasal rubbing as well as eosinophils were all enhanced after the adoptive transfer of wild-type nuocytes. Concentrations of IL-5, IL-13, IL-25 and IL-33 in nasal lavage fluid of allergic mice were also increased. However, nuocytes fromIl17br-/-Il1rl1-/- mice did not increase sneezing and nasal rubbing and eosinophilia, and upregulate the above cytokines in the nasal lavage fluid. Conclusion: The findings demonstrate that nuocytes from the mesenteric lymph nodes of wildtype mice promote allergic responses in a mouse model.

Resumo Introdução: Os nuócitos desempenham um papel importante na imunidade do tipo 2. No entanto, a contribuição das interleucinas ILC2s na rinite alérgica ainda precisa ser elucidada. Objetivo: Avaliar o papel dos nuócitos de linfonodos mesentéricos nas respostas alérgicas em camundongos. Método: Após a administração intraperitoneal de interleucina (IL)-25 e IL-33 em camundongos do tipo selvagem e camundongos Il17br-/-Il1rl1-/- com deficiência dupla, os nuócitos foram purificados do tecido linfoide associado a mucosa nasal e linfonodos mesentéricos. Em seguida, avaliamos as produções de IL-5 e IL-13 em culturas de nuócitos. Finalmente, transferimos adotivamente os nuócitos derivados de linfonodos mesentéricos de camundongos do tipo selvagem e camundongos Il17br-/-Il1rl1-/- para o modelo murino de rinite alérgica para avaliar seu papel nas respostas alérgicas nasais. Resultados: Mostramos que os nuócitos nos linfonodos mesentéricos de camundongos do tipo selvagem estavam up-regulados após a aplicação de IL-25 e IL-33 e foram induzidos a produzir IL-5 e IL-13. Os espirros e friçcão nasal, bem como os eosinófilos, aumentaram após a transferência adotiva de nuócitos do tipo selvagem. As concentrações de IL-5, IL-13, IL-25 e IL-33 no líquido da lavagem nasal de camundongos alérgicos também estavam aumentadas. Entretanto, os nuócitos de camundongos Il17br-/-Il1rl1-/- não aumentaram os espirros e a friçcão nasal ou eosinofilia e up-regularam as citocinas acima no líquido de lavagem nasal. Conclusão: Os achados demonstram que os nuócitos dos linfonodos mesentéricos de camundongos selvagens promovem respostas alérgicas em um modelo de camundongo.

Monitoring significance of end-respiratory carbon dioxide partial pressure in neonatal respiratory support / 中国小儿急救医学

Objective:To compare the neonatal end tidal carbon dioxide pressure(PetCO 2) and its correlation with arterial carbon dioxide pressure(PaCO 2) monitored by non-invasive mask, accessory flow nasal catheter and invasive mechanical ventilation. Methods:From October 2017 to January 2020, 53 cases of newborn who were needed respiratory support treatment in our hospital were selected.PetCO 2was detected at admission, respiratory support and after weaning, including nasal catheter, non wound mask and invasive ventilation, and at the same time matching analysis of the corresponding with PaCO 2artery blood gas analysis. Results:(1) PetCO 2monitored by mask was lower than PaCO 2[(40.41 ± 10.21) mmHg vs.(42.85 ± 10.32) mmHg(1 mmHg=0.133 kPa), t=11.88, P<0.01], and there was a significant positive correlation between PetCO 2and PaCO 2( r=0.97, P<0.01); the mean bias of PetCO 2monitored by mask was(1.20 ± 2.31) mmHg, only 4.5%(5/110) was outside the 95% confidence interval.(2) PetCO 2monitored by nasal catheter was also lower than the mean PaCO 2[(40.93 ± 10.55) mmHg vs.(42.01 ± 10.50) mmHg, t=4.12, P<0.01], showing a significant positive correlation( r=0.96, P<0.01); the mean bias of PetCO 2monitored by nasal catheter was(2.44 ± 2.56) mmHg, and only 4.6%(7/150) was beyond the 95% confidence interval.(3) PetCO 2of neonates with endotracheal intubation and mechanical ventilation was also lower than PaCO 2[(43.33±10.26) mmHg vs. (49.37±11.34) mmHg, t=13.83, P<0.01], and there was also a significant positive correlation between the two groups, which was lower than that of neonates with non-invasive ventilation( r=0.94, P<0.01). The mean PetCO 2bias for neonates with invasive positive pressure ventilation was(0.90±0.82) mmHg, and only 3.9%(2/51) were outside the 95% confidence interval.(4) According to gestational age, the PetCO 2of early and late preterm infants was(37.25±11.32) mmHg and(39.58±10.37) mmHg, respectively, which were lower than that of full-term infants[(42.69±10.66) mmHg], and there was a positive correlation between PetCO 2and PaCO 2in all three groups.The correlation between PetCO 2and PaCO 2in early preterm infants was the lowest among the three groups( r=0.89, P<0.01). Conclusion:The monitoring of PetCO 2through nasal catheter, mask and invasive ventilation has a good correlation and consistency with the level of PaCO 2in neonates, which can accurately reflect the level of PaCO 2in neonates.The correlation between PetCO 2and PaCO 2in neonates with non-invasive ventilation is better than that in neonates with invasive ventilation.The correlation between PetCO 2and PaCO 2in late preterm infants and term infants is better than that in early preterm infants.

Association between chronic hepatitis B virus infection anddiabetes among adults / 预防医学

Objective@#To explore the association between chronic hepatitis B virus infection and diabetes among adults.@*Methods@#The baseline data of China Kadoorie Biobank ( CKB ) study from Tongxiang of Zhejiang Province was used for analysis. Community residents were investigated in the study from August 2004 to May 2008, including questionnaire survey, physical measurement and biological sample test. Univariate and multivariate logistic regression models were used to estimate the association of chronic hepatitis B virus infection with diabetes.@*Results@#Totally 52 888 participants were included in the final analysis. The overall prevalence of HBsAg-positive was 3.55% ( N=1 877 ). The overall prevalence of diabetes was 5.17% ( N=2 733 ). The prevalence of HBsAg-positive in diabetic patients was 3.51% ( N=96 ). Both univariate and multivariate logistic regression models indicated that there was no association between chronic hepatitis B virus infection and diabetes（ P>0.05 ）. @*Conclusion@#No significant association has been found between chronic hepatitis B virus infection and diabetes among adults.

Antipyretic effect of Xiyanping injection on bacterial endotoxin lipopolysaccharide-induced fever in rabbits / 药学学报

This paper mainly studied the effect of Xiyanping injection on the bacterial endotoxin lipopolysaccharide (LPS)-induced fever in rabbits, preliminarily investigated the mechanisms, and provided pharmacological basis for the clinical application. The rabbit model of endotoxin-induced fever was established by using LPS as the inducer; The changes of rectal temperature were measured; The levels of prostaglandin E2 (PGE2), tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), and phospholipaseA2 (PLA2) in the serum were measured; The levels of PGE2, cyclic adenosine monophosphate (cAMP), and arginine vasopressin (AVP) in cerebrospinal fluid as well as hypothalamus were detected. The animal welfare and experimental process are in accordance with the regulations of the Animal Ethics Committee of China Pharmaceutical University in this study. The results showed that Xiyanping injection (12.5, 25, and 50 mg·kg-1) could significantly reduce LPS-upregulated body temperature of rabbits, and the duration of action could reach 5.5-8.5 h. At the doses of 25 and 50 mg·kg-1, the antipyretic effect of Xiyanping injection was comparable to that of analgin injection (50 mg·kg-1). Furthermore, Xiyanping injection and analgin injection both reduced the levels of PGE2, IL-1β, TNF-α, and PLA2 in the serum of febrile rabbits to the varying degrees. In addition, Xiyanping injection also down-regulated the levels of PGE2, cAMP, and AVP in the hypothalamus, and PGE2 and cAMP in the cerebrospinal fluid. The level of AVP in the cerebrospinal fluid was up-regulated. This study indicated that Xiyanping injection could significantly improve the endotoxin-induced fever in rabbits, and mechanisms were closely related to the regulation of the levels of PGE2, TNF-α, IL-1β, PLA2, cAMP, and AVP in serum, hypothalamus, and cerebrospinal fluid.

Discuss about Key Issues of Dual Energy X-ray Absorptiometry Evaluation / 中国医疗器械杂志

The Dual energy X-ray absorptiometry is the most commonly used for measuring bone mineral density. This method involves core clinical functions, phantom and database. This article discusses the three key issues of dual energy X-ray absorptiometry evaluation, including core clinical functions, phantom and database. This article aims at helping manufacturers to scientifically carry out relevant processes during research and development and also manufacturers may refer to this article when they apply for registration.

Evaluating the effect of WNT pathway genes considering interactions on the risk of non-syndromic oral clefts among Chinese populations / 北京大学学报(医学版)

OBJECTIVE@#In this study, we used genome-wide association study (GWAS) data to explore whether WNT pathway genes were associated with non-syndromic oral clefts (NSOC) considering gene-gene interaction and gene-environment interaction.@*METHODS@#We conducted the analysis using 806 non-syndromic cleft lip with or without cleft palate (NSCL/P) case-parent trios and 202 non-syndromic cleft palate (NSCP) case-parent trios among Chinese populations selected from an international consortium established for a GWAS of non-syndromic oral clefts. Genotype data and maternal environmental exposures were collected through DNA samples and questionnaires. Conditional Logistic regression models were adopted to explore gene-gene interaction and gene-environment in teraction using trio package in R software. The threshold of significance level was set as 3.47×10-4 using Bonferroni correction.@*RESULTS@#A total of 144 single nucleotide polymorphisms (SNPs) in seven genes passed the quality control process in NSCL/P trios and NSCP trios, respectively. Totally six pairs of SNPs interactions showed statistically significant SNP-SNP interaction (P < 3.47×10-4) after Bonferroni correction, which were rs7618735 (WNT5A) and rs10848543 (WNT5B), rs631948 (WNT11) and rs556874 (WNT5A), and rs631948 (WNT11) and rs472631 (WNT5A) among NSCL/P trios; rs589149 (WNT11) and rs4765834 (WNT5B), rs1402704 (WNT11) and rs358792 (WNT5A), and rs1402704 (WNT11) and rs358793 (WNT5A) among NSCP trios, respectively. In addition, no significant result was found for gene-environment interaction analysis in both of the NSCL/P trios and NSCP trios.@*CONCLUSION@#Though this study failed to detect significant association based on gene-environment interactions of seven WNT pathway genes and the risk of NSOC, WNT pathway genes may influence the risk of NSOC through potential gene-gene interaction.

Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios / 北京大学学报(医学版)

OBJECTIVE@#Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect, affecting 1.4 per 1 000 live births, and multiple genetic and environmental risk factors influencing its risk. All the known genetic risk factors accounted for a small proportion of the heritability. Several authors have suggested parent-of-origin effects (PoO) may play an important role in the etiology of this complex and heterogeneous malformation. To clarify the genetic association between PTCH1, PTCH2, SHH and SMO in hedgehog (HH) pathway and NSCL/P, as well as testing for potential PoO effects in Chinese case-parent trios.@*METHODS@#We tested for transmission disequilibrium tests (TDT) and PoO effects using 83 common single nucleotide polymorphic (SNP) markers of HH pathway genes from 806 NSCL/P case-parent trios. These trios were drawn from an international consortium established for a genome-wide association studies (GWAS) of non-syndromic oral clefts of multiple ethnicities. DNA samples were collected from each trio. Single marker and haplotype based analysis were performed both in TDT tests and PoO effects. SNPs were excluded if they (ⅰ) had a call rate of < 95%, (ⅱ) had a minor allele frequency (MAF) of < 0.05, (ⅲ) had Mendelian errors over all trios of >5%, (ⅳ) had a genotype distribution in the parents that deviated from the Hardy-Weinberg equilibrium (HWE) (<i>P</i> < 0.000 1). The process was done using Plink (version 1.07, <a href="http://pngu.mgh.harvard.edu/~purcell/plink/data.shtml" target="_blank">http://pngu.mgh.harvard.edu/~purcell/plink/data.shtml</a>). TDT test was performed in Plink v1.07. A log-linear model was used to explore PoO effects using Haplin v6.2.1 as implemented in R package v3.4.2. Significance level was assessed using the Bonferroni correction.@*RESULTS@#A total of 18 SNPs were dropped due to low MAF, thus leaving 65 SNPs available for the analysis. Thus the Bonferroni threshold was 7.7×10-4 (0.05/65). Nominal significant association with NSCL/P was found at a SNP (rs4448343 in PTCH1, P=0.023) and six haplotypes (rs10512249-rs4448343, rs1461208-rs7786445, rs10512249-rs4448343, rs16909865-rs10512249-rs4448343, rs1461208-rs7786445-rs12698335, and rs288756-rs288758-rs1151790, P < 0.05). A total of six haplotypes (rs288765-rs1233563, rs12537550-rs11765352, rs872723-rs288765-rs1233563, rs288765-rs1233563-rs288756, rs6459952-rs12537550-rs11765352, and rs12537550-rs11765352-rs6971211) showed PoO effect (P < 0.05). None of the results remained significant after the Bonferroni correction (P>7.7×10-4).@*CONCLUSION@#Neither significant association between SNPs within HH pathway and the risk of NSCL/P nor PoO effects was seen in this study.

Bivariate heritability estimation of resting heart rate and common chronic disease based on extended pedigrees / 北京大学学报(医学版)

OBJECTIVE@#To estimate the univariate heritability of resting heart rate and common chronic disease such as hypertension, diabetes, and dyslipidemia based on extended pedigrees in Fujian Tulou area and to explore bivariate heritability to test for the genetic correlation between resting heart rate and other relative phenotypes.@*METHODS@#The study was conducted in Tulou area of Nanjing County, Fujian Province from August 2015 to December 2017. The participants were residents with Zhang surname and their relatives from Taxia Village, Qujiang Village, and Nanou Village or residents with Chen surname and their relatives from Caoban Village, Tumei Village, and Beiling Village. The baseline survey recruited 1 563 family members from 452 extended pedigrees. The pedigree reconstruction was based on the family information registration and the genealogy booklet. Univariate and bivariate heritability was estimated using variance component models for continuous variables, and susceptibility-threshold model for binary variables.@*RESULTS@#The pedigree reconstruction identified 1 seven-generation pedigree, 2 five-generation pedigrees, 23 four-generation pedigrees, 186 three-generation pedigrees, and 240 two-generation pedigrees. The mean age of the participants was 57.2 years and the males accounted for 39.4%. The prevalence of hypertension, diabetes, dyslipidemia in this population was 49.2%, 10.0%, and 45.2%, respectively. The univariate heritability estimation of resting heart rate, hypertension, and dyslipidemia was 0.263 (95%CI: 0.120－0.407), 0.404 (95%CI: 0.135－0.673), and 0.799 (95%CI: 0.590－1), respectively. The heritability of systolic blood pressure, diastolic blood pressure, fasting glucose, total cholesterol, triglyceride, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol was 0.379, 0.306, 0.393, 0.452, 0.568, 0.852, and 0.387, respectively. In bivariate analysis, there were phenotypic correlations between resting heart rate with hypertension, diabetes, diastolic blood pressure, fasting glucose, and triglyceride. After taking resting heart rate into account, there were strong genetic correlations between resting heart rate with fasting glucose (genetic correlation 0.485, 95%CI: 0.120－1, P<0.05) and diabetes (genetic correlation 0.795, 95%CI: 0.181－0.788, P<0.05).@*CONCLUSION@#Resting heart rate was a heritable trait and correlated with several common chronic diseases and related traits. There was strong genetic correlation between resting heart rate with fasting glucose and diabetes, suggesting that they may share common genetic risk factors.

Analysis of differentially expressed genes and signaling pathways in colorectal cancer with liver metastasis / 中国肿瘤生物治疗杂志

@#[Abstract] Objective: To explore the key genes and molecular mechanisms of liver metastasis in colorectal cancer (CRC), and to provide potential targets and biomarkers for the treatment of CRC with liver metastasis. Methods: Based on the bioinformatics method, the gene data sets of CRC liver metastasis were downloaded from the GEO database to screen the differentially expressed genes (DEGs); the GO and KEGG enrichment analyses of DEGs were performed by using DAVID online tool, and the protein-protein interaction (PPI) network was constructed to screen out the key genes, and subsequently the prognosis was analyzed. Results: A total of 321 DEGs were selected from 183 CRC specimens and 39 liver metastasis specimens, including 153 up-regulated genes and 168 downregulated genes. The results of enrichment analysis of GO and KEGG showed that the functions of DEGs were mainly related to protein activation cascade, inflammatory response, extracellular matrix, platelet degranulation, complement and coagulation cascade reaction etc. 8 key CRC genes (ALB, APOB, FGA, F2, APOA1, SERPINC1, FGG and AHSG) were screened by PPI network. Survival analysis showed that patients with high expressions of SERPINC1 and FGG had poor prognosis(all P<0.05). Conclusion: The biological functions and signaling pathways of DEGs are related to the occurrence and development of liver metastasis. The 8 key genes may be the potential therapeutic targets of CRC liver metastasis, and SERPINC1 and FGG may be new prognostic markers.

GaAlAs laser pretreatment enhances the function of ADSCs in photoaging of the skin in rats / 中华医学美学美容杂志

Objective To investigate the effect of adipose-derived stem cells (ADSCs) on pho toaging skin after laser pretreatment with GaAlAs.Methods ADSCs were isolated from healthy wistar rats,ADSCs were isolated and cultured to establish an adipose-derived stem cell culture system.ADSCs were pretreated with GaAlAs laser at a wavelength of 650 nm 4 J/cm2.A rat model of pho toaging aging was established.Different doses of ADSCs and low energy laser ADSCs were pretreated with ADSCs for the treatment of photoaging skin,and the morphological changes of epidermis and dermis were observed before and after treatment with low energy laser pretreatment.Results When the concentration of ADSCs was 103/100 μl,there was no significant difference in epidermal thickness and dermal thickness between ADSCs treated group and GaAlAs pretreatment group (P＞0.05).The thickness of epidermis in the GaAlAs pretreatment group was significantly lower than that in the ADSCs group (P＜0.05) at 104/100 μl.When the concentration of ADSCs was 5 × 104/100 μl,the epidermal thickness of the GaAlAs pretreatment group decreased significantly and the thickness of the dermis increased significantly,which was significantly different from that of the ADSCs group (P ＜ 0.05).Conclusions GaAlAs laser pretreatment can enhance ADSCs anti-skin photoaging ability.

An investigation on iodine nutritional status of children and pregnant women in Hulunbuir, Inner Mongolia after reduction of salt iodine content / 中华地方病学杂志

Objective@#To investigate the iodine nutritional status of children and pregnant women in Hulunbuir, Inner Mongolia after reduction of salt iodine content, and to provide theoretical bases for scientific iodine supplementation.@*Methods@#In May to October 2018, according to "Inner Mongolia Iodine Deficiency Disorders Surveillance Project (2016)", in 14 banners (cities, districts) of Hulunbuir, each banner (city, district) was divided into 5 sampling areas according to the location of east, west, south, north and middle, and 40 non-boarding children aged 8-10 years old (age matched, half male and half female) and 20 pregnant women were selected. Salt samples and urine samples were collected to detect salt and urinary iodine levels. Salt iodine was detected based on the "General Test Method in Salt Industry-Determination of Iodine" (GB/T 13025.7-2012), and urinary iodine was detected based on the "Method for Determination of Iodine in Urine by As3+-Ce4+ Catalytic Spectrophotometry" (WS/T 107-2009), the iodine nutritional status was determined according to the standards of urinary iodine recommended by WHO/UNICEF/ICCIDD. At the same time, the goiter condition of children was examined by B-ultrasound.@*Results@#A total of 4 018 salt samples from homes of children and pregnant women were collected, the median of salt iodine was 22.61 mg/kg, the iodized salt coverage rate was 94.50% (3 797/4 018), the qualified rate of iodized salt was 96.92% (3 680/3 797), and the consumption rate of qualified iodized salt was 91.59% (3 680/4 018). A total of 2 790 urine samples from children were collected, the median of urinary iodine was 179.15 μg/L; and 1 228 urine samples from pregnant women were collected, the median of urinary iodine was 156.88 μg/L. There were 9 banners (cities, districts) where children were at the iodine appropriate level, 4 banners (cities, districts) were higher than the iodine appropriate level and 1 banner was at iodine excessive level. There were 4 banners (cities, districts) where pregnant women were at the iodine deficiency level, 8 banners (cities, districts) were at the iodine appropriate level and 2 banners (cities) were higher than the iodine appropriate level. A total of 2 629 children were examined thyroid gland, and the goiter rate was 0.99% (26/2 629).@*Conclusions@#After reduction of salt iodine content, the iodine nutrition of children and pregnant women in Hulunbuir is generally at an appropriate level. In some banners (cities, districts), children and pregnant women are at iodine deficiency level, iodine over appropriate level or iodine excessive level. Iodine nutrition monitoring measures of children and pregnant women should be strengthened.

Application of Two-parameter Scoring System Based on CD105 and CD117 in MDS Diagnosis / 中国实验血液学杂志

OBJECTIVE@#To study the value of flow cytometric scoring system in the diagnosis of myelodysplastic syndromes (MDS).@*METHODS@#The phenotypes of erythroid and immature cells were analyzed retrospectively in 130 MDS patients, 19 healthy controls and 89 pathological controls, all of them were well clinically immunophenotyped. The 4-parameter scoring system reported in the literature was studied, including myeloblast-related cluster size, B-progenitor-related cluster size, lymphocyte to myeloblast CD45 ratio, and granulocyte to lymphocyte side scatter ratio. The two flow cytomatric parameters of the erythroid scoring system were analyzed, including CD36 coefficient of variation (CV) and CD71CV. According to our previous study, the percentage of CD117CD105 myeloid progenitor cells and the proportion of CD105 cells in CD117 cells were selected to establish a two-parameter scoring system, and compared with the four-parameter scoring system and the erythroid scoring system.@*RESULTS@#The sensitivity of the four-parameter scoring system and the erythroid scoring system for the diagnosis of low-risk MDS was 43.5% and 63.0%, and the specificity was 87.0% and 63.9%, respectively. After combining the two scoring systems, the sensitivity to diagnose low-risk MDS was 73.9% and the specificity was 62.0%. The sensitivity of the two-parameter scoring system for the diagnosis of low-risk MDS was 76.1% with a specificity of 81.5%. Combined with the four-parameter scoring system, the sensitivity was increased to 78.3%, but the specificity was reduced to 71.3%. After combining with the erythroid scoring system, the sensitivity reached 87.0%, but the specificity was reduced to 54.6%.@*CONCLUSION@#Using the two-parameter scoring system alone can achieve great sensitivity and specificity in the diagnosis of low risk MDS.

An investigation on iodine nutritional status of children and pregnant women in Hulunbuir, Inner Mongolia after reduction of salt iodine content / 中华地方病学杂志

Objective To investigate the iodine nutritional status of children and pregnant women in Hulunbuir,Inner Mongolia after reduction of salt iodine content,and to provide theoretical bases for scientific iodine supplementation.Methods In May to October 2018,according to "Inner Mongolia Iodine Deficiency Disorders Surveillance Project (2016)",in 14 banners (cities,districts) of Hulunbuir,each banner (city,district) was divided into 5 sampling areas according to the location of east,west,south,north and middle,and 40 non-boarding children aged 8-10 years old (age matched,half male and half female) and 20 pregnant women were selected.Salt samples and urine samples were collected to detect salt and urinary iodine levels.Salt iodine was detected based on the "General Test Method in Salt Industry-Determination of Iodine" (GB/T 13025.7-2012),and urinary iodine was detected based on the "Method for Determination of Iodine in Urine by As3+-Ce4+ Catalytic Spectrophotometry" (WS/T 107-2009),the iodine nutritional status was determined according to the standards of urinary iodine recommended by WHO/UNICEF/ICCIDD.At the same time,the goiter condition of children was examined by B-ultrasound.Results A total of 4 018 salt samples from homes of children and pregnant women were collected,the median of salt iodine was 22.61 mg/kg,the iodized salt coverage rate was 94.50％ (3 797/4 018),the qualified rate of iodized salt was 96.92％ (3 680/3 797),and the consumption rate of qualified iodized salt was 91.59％ (3 680/4 018).A total of 2 790 urine samples from children were collected,the median of urinary iodine was 179.15 μg/L;and 1 228 urine samples from pregnant women were collected,the median of urinary iodine was 156.88 μg/L.There were 9 banners (cities,districts) where children were at the iodine appropriate level,4 banners (cities,districts) were higher than the iodine appropriate level and 1 banner was at iodine excessive level.There were 4 banners (cities,districts) where pregnant women were at the iodine deficiency level,8 banners (cities,districts) were at the iodine appropriate level and 2 banners (cities) were higher than the iodine appropriate level.A total of 2 629 children were examined thyroid gland,and the goiter rate was 0.99％ (26/2 629).Conclusions After reduction of salt iodine content,the iodine nutrition of children and pregnant women in Hulunbuir is generally at an appropriate level.In some banners (cities,districts),children and pregnant women are at iodine deficiency level,iodine over appropriate level or iodine excessive level.Iodine nutrition monitoring measures of children and pregnant women should be strengthened.

Exploring the association between SPRY gene family and non-syndromic oral clefts among Chinese populations using data of a next-generation sequencing study / 北京大学学报(医学版)

OBJECTIVE@#To explore the association between SPRY gene family and the risk of non-syndromic oral clefts among Chinese populations, in respect of single nucleotide polymorphisms (SNPs) association and parent-of-origin effects.@*METHODS@#Based on case-parent design, this study used the data of SPRY gene family in a next generation sequencing study of 183 non-syndromic cleft lip with or without cleft palate (NSCL/P) case-parent trios (549 participants) recruited from 2016 to 2018, to analyze the effects of SNP association and parent-of-origin. The sequencing study adopted a two-stage design. In the first stage, whole exome sequencing was conducted among 24 NSCL/P trios with family history to explore potential signals. Then in the second stage, another 159 NSCL/P trios were used as validation samples to verify the signals found in the first stage. The data of general information, disease features and parental environmental exposures for participants were collected through questionnaires. Blood samples were collected from each participant for DNA extraction and sequencing. Transmission disequilibrium tests (TDT) were conducted to test for the association between SNPs and NSCL/P, while Z score tests were applied to analyze parent-of-origin effects. The analyses were performed using Plink (v1.07). TRIO package in R (v3.5.1). Besides, famSKAT analyses were conducted in the first stage to combine the effect of SNPs located on the same gene, using famSKAT package in R(V3.5.1). Bonferroni method was adopted to correct multiple tests in the second stage.@*RESULTS@#Twenty-two SNPs in SPRY gene family were included for analyses after the quality control process in the first stage. Based on the variants annotation, functional prediction and statistical analysis, rs1298215244 (SPRY1) and rs504122 (SPRY2) were included in the second verification stage. TDTs in the verification stage revealed that rs1298215244: T>C, rs504122: G>C and rs504122: G>T were associated with the risk of NSCL/P after Bonferroni corrections, where rs504122: G>T was a rare variation. Although the test for parent-of-origin effect of rs1298215244: T>C reached nominal significance level, no SNP showed significant association with NSCL/P through parent-of-origin effect after Bonferroni corrections.@*CONCLUSION@#This study found that SNPs (including both common and rare variants) among the SPRY gene family were associated with the risk of NSCL/P among Chinese populations. This study failed to detect parent-of-origin effects among the SPRY gene family.

Subtype distribution analysis of human papillomavirus in women in Jinhua People's Hospital / 中国基层医药

Objective To detect the infection and subtype distribution of human papillomavirus (HPV) in cervical epithelial cell line in the People's Hospital of Jinhua.Methods 26 kinds of HPV genotypes were detected by gene chip,and the infection states among all subtypes were analyzed.Results A total of 25 genotypes of HPV were identified in 984 female patients,with the positive rate of 36.89％.The top three common high-risk HPV,ranging from high to low according to positive rate were HPV-16,58 and 52.The positive rates of high-risk HPV,low-risk HPV and multiple infection rate were 25.91％,5.69％ and 5.28％,respectively.The positive rates of the age groups of 21-30 years,＞ 30-40 years and ＞ 40 years were 42.33 ％,35.23％ and 35.94％,respectively.There were significant differences among the three age groups in the detection rate of high-risk HPV,low-risk type and multiple infection rate(x2 =71.58,P ＜ 0.05).Conclusion HPV 16,58 and 52 are the main high-risk genotypes of the 984 women in our hospital.The genotyping of HPV has important significance in the prevention,treatment and etiology of cervical cancer,as well as in the study of HPV vaccine.

The research progress in genetic susceptibility of noise-induced hearing loss / 临床耳鼻咽喉头颈外科杂志

Hazards of noise-induced hearing loss (NIHL) to crowd who are long-term exposured and work in the noisy environment is increasingly prominent. But just part of the individuals who are exposed to the same noisy environment have hearing loss, and the severity of hearing loss are different, which indicates genetic predisposition might be associated with NIHL. In recent years, many experts and scholars at home and abroad have done a lot of research in this field, this article summarizes all available studies.