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To investigate the correlation of the single nucleotide polymorphisms rs995030 and rs4474514 of the tyrosine kinase receptor-specific ligand (KITLG) gene with the risk of male infertility.This study included 360 patients with idiopathic male infertility and 338 healthy fathers as controls, all from the surrounding areas of Nanjing. According to the 5th edition of the WHO Laboratory Manual for the Examination and Processing of Human Semen, we divided the infertility patients into an azoospermia (n = 143), a severe oligozoospermia (n = 159), and an oligozoospermia group (n = 58). We obtained the basic clinical data on all the subjects, collected genomic DNA from the peripheral blood of the patients, determined the genotypes of the KITLG gene rs995030 and rs4474514 by sequence mass-array, and analyzed the correlation between the two-point gene polymorphism and male infertility by logistic regression analysis.Statistically significant differences were observed between the infertility patients and normal fertile controls in sperm concentration (［13.23 ± 24.52］ vs ［78.74 ± 61.25］ ×10⁶/ml, P0.01), the percentage of progressively mobile sperm (［18.71 ± 15.19］% vs ［39.36 ± 9.75］%, P0.01), and the level of FSH (［16.09 ± 17.31］ vs ［4.56 ± 2.41］ IU/L, P0.01), but not between the genotypes and male infertility, and no correlation was found in subgroup analysis.The single nucleotide polymorphisms rs995030 and rs4474514 of the KITLG gene were not significantly correlated with male infertility, which is to be further verified by more studies with samples of larger size and expanded selection range.

Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and March 2014, with last follow-up on February 24, 2018. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and nine variants in four genes, GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened using a DNA microarray platform. Of the 180,469 infants, 1,915 (1.061%) were referred bilaterally or unilaterally for hearing screening; 8,136 (4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), among whom 7,896 (4.375%) passed hearing screening. Forty (0.022%) infants carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hearing screening. In total, 409 (0.227%) infants carried the mtDNA 12S rRNA variant (m.1555A>G or m.1494C>T), and 405 of them passed newborn hearing screening. In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.

To investigate the correlation between the single nucleotide polymorphism (SNP) rs662 of the paraoxonase 1 gene (PON1) and the risk of male infertility.This case-control study included 403 male idiopathic infertility patients aged 29.00 ± 4.48 years in the case group and 329 normal fertile men aged 28.28 ± 4.08 years as healthy controls. We obtained DNA from the peripheral venous blood of the subjects, genotyped the SNP rs662 of PON1 by Sequenom MassArray, and analyzed the association between different genotypes of PON1 rs662 and male infertility using the logistic regression model.Compared with the normal controls, the infertility patients showed a significantly increased level of follicle-stimulating hormone (FSH) (［16.30 ± 17.76］ vs ［4.72 ± 2.51］ U/L, P0.01) but a decreased percentage of progressively motile sperm (PMS) (［7.40 ± 14.17］ % vs ［41.93 ± 9.06］ %, P0.01) and sperm concentration (［2.74 ± 3.64］ vs ［75.83 ± 63.66］ ×10⁶/ml, P0.01). Statistically significant differences were not found in the other parameters between the two groups of subjects, nor in the correlation of male infertility with the heterozygous genotype GA versus the wild homozygous genotype GG (OR = 0.98, 95% CI: 0.63－1.53, P = 0.923) or the homozygous genotype AA versus the wild homozygous genotype GG (OR = 0.87, 95% CI: 0.56－1.34, P = 0.525).The SNP rs662 of PON1 was not correlated with male infertility, which, however, needs to be confirmed by further studies with larger samples from a larger area.目的： 探讨对氧磷酶1（PON1）基因rs662(c.575AG)位点单核苷酸多态性与男性不育发病风险之间的相关性。方法： 采用病例-对照研究的方法，选取403例特发性男性不育患者作为病例组，329例正常生育的男性作为对照组。病例组年龄为(29.00 ± 4.48)岁，对照组年龄为(28.28± 4.08)岁。取外周静脉血，并用DNA试剂盒提取DNA，随后用Sequenom MassArray技术对PON1 rs662位点进行基因分型，分析PON1 rs662位点不同基因型与男性不育发病风险之间的相关性。 结果： 病例组与对照组相比，卵泡刺激素［ (16.30±17.76) U/L vs (4.72±2.51) U/L］、前向运动精子百分率［(7.40±14.17) % vs (41.93±9.06) %］、精子浓度［ (2.74±3.64) ×10⁶/ml vs (75.83±63.66) ×10⁶/ml］ 存在明显差异且具有统计学意义（P0.01），其他参数无统计学意义的差异。杂合突变型GA与野生型纯合GG相比较：OR=0.98，95%CI：0.63~1.53，P=0.923，纯合突变型AA与野生型纯合GG相比较：OR=0.87，95%CI：0.56~1.34，P=0.525。两组结果均显示PON1 rs662位点与男性不育发病风险之间无相关性，各亚组分析显示该基因多态性位点与男性不育发病风险之间不存在相关性。结论： PON1 rs662位点基因多态性与男性不育发病风险之间不存在相关性，但是由于实验样本条件的限制，需要更大的样本量以及样本选取范围进行进一步研究。

To explore the electrophysiological results and rehabilitation outcome of two prelingually deafened pediatric cochlear implant patients with auditory neuropathy.Preoperative audiological evaluation, intra-postoperative electrically evoked auditory brainstem response (EABR) and neural response telemetry (NRT) record for the two cases were conducted in Beijing Tongren Hospital. A one year follow-up was performed. Data collected before and at 6,12-month intervals after implantation were compared with that from control pediatric cochlear implant patients matched for the same duration of implant use as this two cases.The two children implanted had not had any postoperative medical or cochlear implant device complications. Intraoperative EABR and NRT were elicited in case 1 with unrepeatable waveforms. After 12 months of training, Case 1 had shown significant improvements in sound detection, speech perception abilities and communication skills, which was better than the control group, and the electrophysiological results became normal. Case 2 had also benefited from cochlear implantation, even though no recognizable NRT was found until he returned 12 month after the operation. CONTUSIONS: The desynchronization of auditory path had been changed after the electrical stimulation ongoing 12 months for children with auditory neuropathy. The two children had not had any complications postoperatively, and each child had shown improved listening and communication skills. Cochlear implantation could help patients with auditory neuropathy to improve their communication skill and go back to the main stream.

Chronic prostatitis is a common andrologic disease. The etiology and pathogensis of the disease are not yet completely understood. This article reviews the origin and the molecular strucure of cytokines and their role in the pathogenesis of prostatitis, especially chronic nonbacterial prostatitis/chronic pelvic pain syndrome.

To evaluate the change of peripheral Th1/Th2 cells in patients with CAP/CPPS and its significance in various clinical types of CAP/CPPS.Interferon-gamma (IFN-gamma) and interleukin-4 (IL-4) secreted by CD3+ CD8(-)T cells were detected by flow cytometry in 35 patients with CAP/CPPS and 12 healthy volunteers, and significance of Th1/Th2 cells ratio in the etiology of CAP/CPPS was analyzed.Compared with control group, peripheral Th1 cells were significantly increased in patients with IIIA and III B CAP/CPPS, the Th1/Th2 cell ratio was apparently increased (P0.05), while Th2 cells was not different from that in the control(P0.05 ); Th1, Th2 cells and Th1/Th2 in patients with IIIA CPPS were not statistically different from those in III B CPPS respectively (P0.05) .There is a Th1/Th2 imbalance in CAP/CPPS patients with an increase of Th1 type cytokines. Th1 cell may play an important role in the pathogenesis of CAP/CPPS.