Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family

Brachydactyly type A (BDA) is defined as short middle phalanges of the affected digits and is subdivided into four types (BDA1‐4). To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of HOXD13 could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel HOXD13 mutation. The affected individuals presented with an obviously shorter fifth middle phalanx. The radial side of the middle phalanx was shorter than the ulnar side, and the terminal phalanx of the fifth finger inclined radially and formed classical clinodactyly. Interestingly, the index finger was normal. The initial diagnosis was BDA3. However, the distal third and fourth middle phalanges were also slightly affected, resulting in mild radial clinodactyly. Both feet showed shortening of the middle phalanges, which were fused to the distal phalanges of the second to the fifth toes, as reported in BDA4. Therefore, this pedigree had combined BDA3 and atypical BDA4. By direct sequencing, a 13 bp deletion within exon 1 of HOXD13 (NM_000523.4: c.708_720del13; NP_000514.2: p.Gly237fs) was identified. The 13 bp deletion resulted in a frameshift and premature termination of HOXD13. This study provides further evidences that variants in HOXD13 cause BDA3‐BDA4 phenotypes.     

Correlation of preS antigens and clinical status during chronic hepatitis B virus infection

The serum kinetics of preS1 and preS2 antigens has been evaluated in 38 serial samples from eight patients with chronic active (CAH) or chronic persistent (CPH) hepatitis, followed for 2–7 years (mean 4.4 years) in whom liver biopsy was performed at intervals, and in 46 samples from ten asymptomatic HBsAg carriers followed for 4–5 years (mean 4.6 years). Four patterns of preS behaviour have been observed: (1) persistently positive preS1 and preS2; (2) disappearance of preS2; (3) disappearance of both preS1 and preS2; and (4) persistently negative preS1 and preS2. Pattern 4 has been observed exclusively among healthy carriers, while seven out of eight chronic patients exhibited either pattern 1 or 2. Among the chronic patients, preS2 disappearance was accompanied or followed by alanine aminotransferase (ALT) normalization. The correlation of preS antigens with conventional viral replication markers showed that 100% of hepatitis B virus (HBV)-DNA-positive and 86.6% of HBeAg-positive sera were preS1/preS2 positive, while 61% of HBV-DNA-negative and 64% of HBeAg-negative sera were preS1/preS2 negative. Our data suggest that continuous monitoring of preS antigens in follow-up sera will allow for an improved prognostic evaluation of chronic HBV infection.     

A method that allows easy characterization of tumor-infiltrating lymphocytes

A method was developed to compare the lymphocytic infiltrates in regressing vs. progressing experimental mouse tumors using a model for human papillomavirus-16 (HPV-16) oncoprotein-linked cancer. Tumor cells mixed with matrigel, composed of natural matrix substances that provide a basement membrane structure for adherent cells, were inoculated into mice vaccinated with an efficacious vaccine to the E7 oncoprotein or a vaccine to a control antigen. The tumor cells remained within the solidified gel and recruited a cellular infiltrate that could readily be analyzed upon removal of the gelatinous mass containing progressing or regressing tumors. The results show that tumors recruit activated CD8(+) T cells regardless of their antigen specificity. In regressing tumors expressing an appropriate target antigen for the vaccine-induced CD8(+) T cells, a strong increase of the tumor antigen-specific T cell population was observed over time. Progressing tumors that lacked the target antigen for the activated CD8(+) T cell population did not show this selective enrichment.     

小鼠IgE抗体生成的免疫调节——对半抗原-载体蛋白质IgE抗体应答的研究

众所周知,半抗原具有两个特性:(1)无免疫原性;(2)具有反应原性。当半抗原与载体蛋白质结合后便可获得免疫原性,而成为完全抗原。在Ⅰ型变态反应实验动物研究中广为应     

2010—2019年中国居民四类慢性非传染病的死亡趋势及差别分解分析

目的 分析2010—2019年我国居民4类主要慢性病（恶性肿瘤、糖尿病、心血管疾病和呼吸系统疾病）的死亡率变化趋势及影响其变化的因素。方法 数据来自全国疾病监测系统死亡数据资料,运用Joinpoint模型计算死亡率的年度平均变化百分比（AAPC）和年度变化百分比（APC）,并用死亡率差别分解法解释该趋势变化的影响因素。结果 2010—2019年我国居民四种慢性病的粗死亡率由456.22/10万上升至556.00/10万,标化死亡率由541.40/10万降至419.83/10万。死亡率变化是人口构成和其它危险因素共同作用的结果,其中人口构成因素促进了恶性肿瘤、糖尿病、心血管疾病和呼吸系统疾病死亡率的上升,贡献值分别48.52/10万、5.12/10万、135.28/10万、38.39/10万;其它危险因素促进糖尿病死亡率上升,而驱使另3种慢性病死亡率下降,贡献值分别- 23.11/10万、1.27/10万、- 55.87/10万、- 49.83/10万。结论 我国综合防控重大慢性病造成的死亡取得一定成效,但与此同时随着老龄化加剧,上述疾病依然是引发死亡的主要原因,卫生健康事业发展面临严峻挑战。     

Free Sugars Intake among Chinese Adolescents and Its Association with Dental Caries: A Cross-Sectional Study

This study aims to estimate the free sugars intake, identify the primary food sources of free sugars, and explore the relationship between free sugars intake and dental caries among Chinese adolescents. This cross-sectional study included 1517 middle-school students aged 12–14 years in Changsha city, China. Adolescents completed a 12-item Food Frequency Questionnaire (FFQ) and oral health assessment. The students’ dental caries experience was available as DMFT score (number of decayed, missing, and filled permanent teeth). Statistical analyses included the Mann–Whitney test, Kruskal–Wallis test, Chi-square test, and binary logistic regression model. The average intake of free sugars was 53.1 g/d in adolescents, and 43.2% of the students consumed more than 50 g of free sugars daily. The primary contributor to free sugars was sugar-sweetened beverages (SSBs). Age, boarders, and high family income were risk factors for excessive free sugars intake (p < 0.05), and increased free sugars intake was a risk factor for dental caries (odds ratio, OR = 1.446, 95% confidence interval: 1.138–1.839). Both the free sugars intake and dental caries prevalence in Chinese adolescents were high. Targeted interventions are urgently needed to address the excessive consumption of free sugars and improve Chinese adolescents’ oral health.     

Association of Opioid Use Disorder With 2016 Presidential Voting Patterns: Cross-sectional Study in New York State at Census Tract Level

BackgroundOpioid overdose-related deaths have increased dramatically in recent years. Combating the opioid epidemic requires better understanding of the epidemiology of opioid poisoning (OP) and opioid use disorder (OUD).ObjectiveWe aimed to discover geospatial patterns in nonmedical opioid use and its correlations with demographic features related to despair and economic hardship, most notably the US presidential voting patterns in 2016 at census tract level in New York State.MethodsThis cross-sectional analysis used data from New York Statewide Planning and Research Cooperative System claims data and the presidential voting results of 2016 in New York State from the Harvard Election Data Archive. We included 63,958 patients who had at least one OUD diagnosis between 2010 and 2016 and 36,004 patients with at least one OP diagnosis between 2012 and 2016. Geospatial mappings were created to compare areas of New York in OUD rates and presidential voting patterns. A multiple regression model examines the extent that certain factors explain OUD rate variation.ResultsSeveral areas shared similar patterns of OUD rates and Republican vote: census tracts in western New York, central New York, and Suffolk County. The correlation between OUD rates and the Republican vote was .38 (P<.001). The regression model with census tract level of demographic and socioeconomic factors explains 30% of the variance in OUD rates, with disability and Republican vote as the most significant predictors.ConclusionsAt the census tract level, OUD rates were positively correlated with Republican support in the 2016 presidential election, disability, unemployment, and unmarried status. Socioeconomic and demographic despair-related features explain a large portion of the association between the Republican vote and OUD. Together, these findings underscore the importance of socioeconomic interventions in combating the opioid epidemic.     

PDCA及RCA在医院VTE防治精细化管理中的应用

该院将PDCA循环、根因分析这两个管理工具引入医院静脉血栓栓塞症(VTE)的精细化管理中,形成了以质控科为圆心,围绕圆心的一环为VTE防治管理委员会及VTE快速反应团队、二环为临床科室VTE防治管理小组的同心圆模式的管理体系.以回顾性分析1例医院相关性VTE事件的发生为例,剖析环节中尚存在的缺陷,进行多方位自我检查,健全了医院VTE管理体系,显著提升了全院VTE评估合格率、预防措施实施率,降低了医院相关性VTE发生率、致死性PTE发生率.