The association between variants in the CFTR gene and nonobstructive male infertility: A meta-analysis

The association of genetic variants and congenital bilateral absence of the vas deferens (CBAVD) has been well acknowledged. By contrast, the link between nonobstructive azoospermia (NOA) or oligospermia and alterations in the cystic fibrosis transmembrane conductive regulator (CFTR) remains inconclusive. To clarify the problem, a meta-analysis was performed out after systematically searching Pubmed, Web of Science, Embase and the Chinese national knowledge infrastructure (CNKI) database. As we know, the ∆F508 and IVS8-5T gene mutations are the most studied genetic variants in CFTR gene. We reviewed the data from male patients who underwent the aforementioned genetic test. Our study revealed that the IVS8-5T mutation may be positively associated with the risk of nonobstructive male infertility (odds ratio (OR) 1.69; 95% CI: 1.12–2.55). This association strengthened when concerning NOA (OR: 2.62; 95% CI: 1.49–4.61). However, the ∆F508 mutation seemed to be a smaller contributing factor to this risk (OR: 1.63; 95% CI: 0.86–3.08). Our study aims to clarify the association between the ∆F508 and IVS8-5T gene mutations and nonobstructive male infertility. Therefore, screening for the IVS8-5T mutation in the CFTR gene may be recommended for men with NOA or severe oligozoospermia seeking assisted reproductive technology (ART).     

AR-V7表达与去势抵抗性前列腺癌阿比特龙治疗敏感性的相关性研究

目的:探讨去势抵抗性前列腺癌(CRPC)患者中雄激素受体剪切变异体7(AR-V7)的表达与阿比特龙治疗敏感性的相关性。方法:采用前瞻性队列研究对2016年1月至2019年1月北京大学肿瘤医院收治的年龄≥18岁,存在1≥处全身转移,拟使用阿比特龙治疗的新发CRPC患者行外周血循环肿瘤细胞(CTCs)AR-V7检测,根据检测结果将患者分为AR-V7阳性组和AR-V7阴性组,对两组患者PSA下降时间、PSA无进展生存(PFS)、临床状态PFS、影像学PFS以及总生存进行统计分析。结果:共入组77例患者,其中AR-V7阴性组49例,AR-V7阳性组28例。AR-V7阴性组PSA下降时间[(72.04±66.92)d与(190.11±102.44)d,P=0.000]、PSA无应答率[6.12%(3/49)与21.4%(6/28),P=0.040]明显小于AR-V7阳性组,而PSA PFS[(489.17±269.39)d与(130.56±120)d,P=0.010]、临床状态PFS[(551.91±322.05)d与(261.44±200.85)d,P=0.018]、影像学PFS[(523.7±223.28)d与(247.56±202.80)d,P=0.003]明显长于AR-V7阳性组。AR-V7阳性组和AR-V7阴性组的肿瘤特异性生存时间分别为(1246.89±375.65)d和(1001.42±248.94)d(P=0.159),总生存率分别为89.8%(44/49)和89.3%(25/28)(P=0.176),差异均无统计学意义。结论:CRPC患者中,AR-V7表达与阿比特龙治疗敏感性及患者预后密切相关,阳性表达患者阿比特龙治疗效果及预后较差。     

Origin and epidemic status of porcine epidemic diarrhea virus variants in China

From 2010, porcine epidemic diarrhea virus (PEDV) variants caused sequential outbreaks of disease in Asia and the United States. In this retrospective study, 49 complete spike (S) gene sequences were obtained from PEDV strains collected in China from 2014 to 2016. We observed that variant PEDV strains with novel insertions, deletions, and multiple S gene recombination types were present in China. In addition, mixed infections involving different variant strains were observed in some areas. Based on phylogenetic and recombination analyses, we determined that the newly emerged PEDV variants potentially originated via recombination between the earliest Chinese G1 genogroup strain, JS‐2004‐2 and earlier Korean pandemic strains. These findings provide important information for understanding ongoing PEDV outbreaks and suggest that novel variants make it more difficult to prevent PEDV infection.     

Transgender pediatric surgical patients—Important perioperative considerations

Transgender describes a variety of identities in which an individual's gender identity is different from expected based on the sex assigned at birth. In the United States, it is estimated that over 1 million adults and 150 000 youth identify as transgender, with increasing numbers being seen in healthcare and surgical settings. These numbers will continue to rise as visibility and acceptance grow. Current guidelines recommend transition‐related surgeries be reserved for older adolescents and adults. However, this is not the only circumstance in which the pediatric anesthesiologist may find themselves caring for a transgender patient. In order to provide the safest and most affirming care, it is crucial that the pediatric anesthesiologist develop a working knowledge of this unique and vulnerable population, including the potential impacts of gender‐affirming treatment on their perioperative care.     

Influential Factors on Risk-reduction Mastectomy in a High-risk Breast Cancer Population With Genetic Predispositions

BackgroundCarriers of deleterious mutations in breast cancer predisposition genes are presented with critical choices regarding cancer risk management. Risk-reduction mastectomy is a major preventative strategy in this population. Understanding the decision-making process for prophylactic mastectomy is essential in patient-centered care for high-risk carriers and patients with breast cancer. We sought to provide insight into influential factors underlying preventative surgery decisions among individuals with high breast cancer risk.Materials and MethodsWe conducted a retrospective chart review of pathogenic carriers of high-risk breast cancer genes who presented to the Moffitt GeneHome clinic between March 2017 and June 2020. Associations between preventative mastectomy choice and influence variables were analyzed via unadjusted and adjusted logistic regression models.ResultsOf 258 high-risk mutation carriers, 104 (40.3%) underwent risk-reduction mastectomy. A significantly higher proportion of mastectomy patients reported prior history of breast cancer (68.9% vs. 16.5%; P < .001) and history of other risk-reduction or noncancer-related surgeries (61.7% vs. 25.8%; P < .001). Significant predictors affecting surgery decision included previous breast cancer history (adjusted odds ratio [aOR], 10.48; 95% confidence interval [CI], 5.59-19.63; P < .0001), other risk-reduction or noncancer-related surgical history (aOR, 4.65; 95% CI, 2.28-9.47; P < .0001), and age at presentation to the genetics clinic (< 35 years old: aOR, 2.77; 95% CI, 1.04-7.4; P = .042; 35-55 years old: aOR, 2.48; 95% CI, 1.19-5.18; P = .016).ConclusionsPreventive mastectomy decisions are highly personal and complex. In our sample, we observed prior history or concurrent breast cancer, history of other risk-reduction surgery or noncancer-related surgery, and younger age at presentation to the GeneHome clinic to be predictive of mastectomy uptake.     

孟鲁司特钠联合布地奈德混悬液雾化吸入治疗咳嗽变异型哮喘75例的临床研究

目的探讨孟鲁司特钠联合布地奈德混悬液雾化吸入治疗咳嗽变异型哮喘(CVA)的临床疗效。方法 75例CVA患者随机分为对照组和研究组。对照组36例,给予常规基础治疗和布地奈德混悬液雾化吸入;研究组39例,在对照组基础上给予孟鲁司特钠口服。观察治疗前、治疗10 d后临床疗效及肺活量(FVC)、最大呼气峰流速(PEF)及超敏C反应蛋白(hs CRP)、肿瘤坏死因子-α(TNF-α)和白介素-13(IL-13)水平变化。结果治疗前两组患者FVC、PEF及hs CRP、TNF-α和IL-13水平比较,差异无统计学意义(P>0.05)。治疗10 d后,研究组FVC、PEF升高幅度明显优于对照组(P<0.05),血清hs CRP、TNF-α、IL-13水平明显低于对照组(P<0.05),研究组治疗总有效率94.87%明显高于对照组总有效率77.78%(P<0.05)。结论孟鲁司特钠联合布地奈德混悬液雾化吸入治疗咳嗽变异型哮喘疗效显著、不良反应较少,明显改善哮喘、咳嗽等临床症状。