Objective To explore the genetic mutation in neonates who failed to pass hearing screening.Methods A total of 111 cases of neonates who failed to pass hearing screening and were conifrmed sensorineural deafness by auditory brainstem evoked potential (ABR) were randomly selected. The heel blood was collected and DNA was extracted.GJB2, SLC26A4, and 11 mutation hotspots in mitochondria gene12SrRNA were tested. The relationship between degree of hearing loss and gene mutation was analyzed.Results In 111 neonates, mutation in deafness gene were found in 24 cases (21.6%) . Among them 14 cases (12.6%) hadGJB2 gene mutation including 5 cases of 235delC single heterozygous mutation, 5 cases of 235delC, and 1 case each of 299_300delAT compound heterozygous mutation, 235delC homozygous mutation, 299_300delAT single heterozygous mutation, 176_191del16 and 235delC compound heterozygous mutation, and 299_300delAT and 508_511dupAACG compound heterozygous mutation respectively. Ten cases (9.0%) hadSLC26A4 gene mutation including 2 cases of IVS7-2A>G single heterozygous mutation, 3 cases of 1226G>A single heterozygous mutation, 2 cases of 2168A>G single heterozygous mutation, and 3 cases of IVS7-2A>G and 2168A>G compound heterozygous mutation. Mitochondrial gene mutations were not detected. Conclusions Deafness gene mutation is detected in more than 1/5 neonates who failed to pass newborn hearing screening. GJB2 gene mutation is the most commons. The implementation of hotspots deafness gene detection can improve the diagnostic rate of deafness.

Objective To research the influence of hypoxic preconditioning in anti-oxidative ability of brain tissues and neurological functions in rats after traumatic brain injury.Methods Forty eight adult male Sprague Dawley rats were randomly divided into sham-operated group,hypoxic preconditioning group (HPC),traumatic brain injury group (TBI) and hypoxic preconditioning+traumatic brain injury group (HPCT,n=12).The HPC rat models were made by hypobaric chamber for 3 d (50 kPa,3 h/d) and TBI were induced by Feeney's improved equipment.All rats were killed 24 h after injury,and the neurological functions of each group were evaluated by modified neurologieal severity scale (mNSS);the neuronal survival around contusion area was detected by NeuN immunohistochemical staining,and the protein and mRNA expressions of nuclear transcription factor-related factor 2 (Nrf2) and thioredoxin reductases 2 (TrxR2) in the brain tissues were detected by Western blotting and real-time quantitative PCR.Results The mNSS scores in the TBI and HPCT groups were significantly higher as compared with those in the sham-operated and HPC groups (P＜0.05),but those in the HPCT group was significantly lower than those in the TBI group (P＜0.05).The neuronal survival in the TBI and HPCT groups was decreased as compared with that in the sham-operated and HPC groups (NeuN expressions:0.274±0.033,0.281±0.042 vs 0.124±0.014,0.150±0.019),with significant difference (P＜0.05),while that in the HPCT group was statistically increased as compared with that in the TBI group (P＜0.05).The expressions of Nrf2 and TrxR2 in the brain tissues of TBI and HPCT groups were significantly increased as compared with those in the sham-operated and HPC groups (P＜0.05),and those in the HPCT group was significantly up-regulated as compared with those in the TBI group (P＜0.05).Conclusion HPC can increase the anti-oxidative ability and relieve the neurological functions missing after TBI.

Objective To investigate the prognostic influence factors of Solitaire stent thrombectomy in patients with acute anterior circulation macrovascular occlusion. Methods From March 2015 to March 2017,222 consecutive patients with acute anterior circulation macrovascular occlusion admitted to the Department of Neurosurgery,the 101stHospital of People′s Liberation Army and the Nanjing Jinling Hospital were enrolled retrospectively.They were all confirmed by DSA and were treated with Solitaire stent thrombectomy. According to the modified Rankin Scale(mRS) scores at 90 d after treatment,they were divided into a good prognosis group (0-2,n=120) and a poor prognosis group (3-6,n =102). The baseline data and clinical data of the two groups of patients were analyzed,including the risk factors for cardiocerebrovascular diseases,baseline National Institutes of Health Stroke Scale (NIHSS) score,occlusion sites (internal carotid artery or middle cerebral artery occlusion),collateral compensatory,onset to puncture time, operation time,onset to recanalization median time,recanalization status,preoperative Alberta stroke programme early CT score(ASPECTS),and symptomatic cerebral hemorrhage,and then further multivariate logistic regression analysis was conducted for the prognostic factors of patients. Results (1) The rate of good prognosis was 54.1% (120/222).There were no significant differences in patients′ age,NIHSS at admission,ASPECTS at admission,sex,hypertension,occlusion site,and rate of good collateral branches in both groups(all P<0.05).There were no significant differences in other baseline data (all P >0. 05). (2) Onset to puncture time and onset to successful recanalization median time of the patients in good prognosis group was lower than that of the poor prognosis group (182 [138,230]min vs.236[170,305]min, 237[175,269]min vs.288[223,367]min).The proportion of successful recanalization was higher than that of the poor prognosis group (98.3% [118/120] vs.78.4% [80/102]).The proportion of postoperative symptomatic intracerebral hemorrhage was lower than that of the poor prognosis group (2.5% [3/120] vs.21.6% [22/102]).There was significant difference between the two groups (all P <0.01). There was no significant difference in operative time between the two groups (P >0.05). (3)In the single factor analysis,the parameter of P <0.05 was used as an independent variable,and prognosis was used as a dependent variable,multivariate logistic regression analysis showed that the increased age (OR,1.096,95% CI 1.050-1.144),history of hypertension (OR,8.401,95% CI 2.960-23.845),increased baseline NIHSS score (OR,1.071,95% CI 1.007-1.138),prolonged onset to successful recanalization time (OR,1.019,95% CI 1.003-1.035),symptomatic intracerebral hemorrhage after procedure (OR,18.110,95% CI 4.656-70.434) were all the risk factors for poor prognosis(all P<0.05);higher ASPECTS score at admission(OR,0.641,95% CI 0.451-0.911) and successful recanalization (OR,0.127,95% CI 0.024-0.664) were all the protective factors of good prognosis (all P<0.05). Conclusions Higher ASPECTS at admission and successful recanalization were the protective factors of poor prognosis of Solitaire stent thrombectomy in patients with acute anterior circulation macrovascular occlusion.Increased age,history of hypertension,increased baseline NIHSS score,prolonged onset to successful recanalization time,and symptomatic intracerebral hemorrhage after procedure were the risk factors for poor prognosis of Solitaire stent thrombectomy in patients with acute anterior circulation macrovascular occlusion.

OBJECTIVETo explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).

METHODSPeripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing. Pathogenicity of identified mutations was evaluated through genotype-phenotype correlation.

RESULTSFor pedigrees 1 and 2, pathogenic mutations were respectively identified in exon 8 (c.871C>T, p.R291X) and exon 15 (c.1601C>T, p.P534L) of the PHEX gene. For pedigree 3, a novel mutation (c.1234delA, p.S412Vfs*12) was found in exon 11 of the PHEX gene, which caused shift the reading frame and premature termination of protein translation.

CONCLUSIONThe three mutations probably account for the XLH in the affected pedigrees. The discovery of novel mutations has enriched the spectrum of PHEX gene mutations.