基于失效模式的在役压力容器检验

从在役压力容器的基本概述入手,介绍了影响在役压力容器工作效果的主要因素,分析了进行在役压力容器检验的意义,探讨了在役压力容器的常见失效模式。在此基础上,进一步提出了基于失效模式的在役压力容器检验策略,旨在切实提高在役压力容器的设备安全性,为工业产业以及居民生活质量和效率提升做出更多贡献。

CNT modified by mesoporous carbon anchored by Ni nanoparticles for CO_(2) electrochemical reduction

The design of novel catalysts for efficient electroreduction of CO_(2) into valueadded chemicals is a promising approach to alleviate the energy crisis.Herein,we successfully modify the carbon nanotube by a layer of mesoporous carbon shell anchored by nickel(Ni)nanoparticles.Ni species effectively enable carbon deposition derived from pyrolysis of surfactant 1-hexadecyl trimethyl ammonium bromide to form a mesoporous carbon shell.At the same time,Ni nanoparticles can be embedded in the mesoporous carbon shell due to the confinement effect.Owing to the dispersive Ni nanoparticles and N-doping active sites of mesoporous carbon,the as-prepared electrocatalyst exhibits exciting catalytic performance for the selective reduction of CO_(2) to carbon monoxide(CO)with a maximum Faradaic efficiency of 98%at a moderate overpotential of−0.81 V(vs.reversible hydrogen electrode)and a high partial current density of 60 mA cm^(−2) in H-cell with an aqueous electrolyte.

TET2 Expression in Bone Marrow Mononuclear Cells of Patients with Myelodysplastic Syndromes and Its Clinical Significances

Objective To investigate the expression of TET2 mRNA and protein in the bone marrow mononuclear cells （BMMNC） of patients with myelodysplastic syndrome （MDS） and its clinical significance. Methods The expression of TET2 mRNA and protein in bone marrow mononuclear cells （BMMNC） of 32 patients with MDS and 20 healthy donors was examined by qPCR and Western blot. Results The expression of TET2 mRNA in BMMNC was down-regulated in MDS patients compared with the donor group [（0.41±0.28）% vs. （1.07±0.56）%] （P〈0.001）. Compared with lower expression group （TET2〈0.4） [（6.53±6.17）%], patients with higher expression of TET2 ≥0.4） presented significantly lower proportion of bone marrow blasts [（1.21±1.56）%1 （P〈0.05）. The expression of TET2 mRNA in BMMNC of MDS patients was inversely correlated with malignant clone burden （t=--0.398, P〈0.05） and IPSS r=-0.412, P〈0.05）. The expression of TET2 protein was down-regulated in MDS patients compared with that in the donor group. Conclusions The mRNA and protein expression of TET2 in BMMNC of MDS patients is decreased, which might be useful as an important parameter for the evaluation of MDS clone burden.

Expression of DLK1 Gene in the Bone Marrow Cells of Patients with Myelodysplastic Syndromes and Its Clinical Significance

Objective This study aims to investigate the expression of delta-like 1 （DLK1） gene in the bone marrow cells of patients with myelodysplastic syndromes （MDS） and to explore its molecular characteristics for the early diagnosis of MDS. Methods The expression of DLK1 mRNA in the bone marrow cells of cases with MDS, acute myeloid leukemia （AML）, and normal control groups were measured by real-time polymerase chain reaction and were analyzed for clinical significance. Results Significantly higher expression of DLK1 mRNA was observed in the bone marrow cells of MDS patients （0.7342±0.3652） compared with the normal control group （0.4801±0.1759） （P〈0.05）. The expression of DLK1 mRNA had a positive correlation with the proportion of bone marrow blasts （r=0.467, P〈0.05）. Moreover, DLK1 mRNA expression was significantly increased as MDS progressed （P〈0.05）. Patients with abnormal karyotypes exhibited significantly higher expression of DLK1 mRNA （0.9007±0.4334） than those with normal karyotypes （0.6411±0.2630） （P〈0.05）. Subsequently, patients with highly expressed DLK1 （≥0.8） presented significantly higher malignant clone burden （0.4134±0.3999） than those with lower DLK1 expression （〈0.8）,（0.1517±0.3109）, （P〈0.05）. Conclusions The DLK1 gene was highly expressed in MDS patients, and was increased as MDS progressed. The expression of DLK1 mRNA was positively correlated with the proportion of the bone marrow blasts. A high expression of DLK1 gene suggested a higher malignant clone burden of MDS.

在役压力容器检验中的常见事故及检验分析

对在役压力容器进行检验,可以有效地发挥压力容器运行期间出现的各类安全隐患,降低事故发生率,保证压力容器的作用充分有效地发挥出来。将针对压力容器检验中的常见事故进行分析,并针对相关问题进行详细分析,探究如何采取有效措施予以处理。

Colonic vitamin D receptor expression is inversely associated with disease activity and jumonji domain-containing 3 in active ulcerative colitis

BACKGROUND The expression of jumonji domain-containing 3(Jmjd3)and trimethylated H3 lysine 27(H3K27me3)in active ulcerative colitis(UC)and the correlation between vitamin D receptor(VDR)and the Jmjd3 pathway are unknown.AIM To study the relationship between VDR,Jmjd3 and H3K27me3 in patients with active UC.METHODS One hundred patients with active UC and 56 healthy controls were enrolled in this study.The patients with active UC were divided into groups according to mild(n=29),moderate(n=32)and severe(n=29)disease activity based on the modified Mayo score.Vitamin D levels were measured by radioimmunoassay.Colonic mucosal tissues from UC patients and controls were collected by colonoscopy.The expression of VDR,Jmjd3 and H3K27me3 in the intestinal mucosa was determined by immunohistochemistry staining.RESULTS Patients with active UC had lower levels of serum vitamin D(13.7±2.8 ng/mL,P<0.001)than the controls(16.2±2.5 ng/mL).In the UC cohort,serum vitamin D level was negatively correlated with disease activity(r=-0.323,P=0.001).VDR expression in the mucosa of UC patients was reduced compared to that in normal tissues(P<0.001)and negatively correlated with disease activity(r=-0.868,P<0.001).Similar results for VDR expression were noted in the most serious lesion(defined as UC diseased)and 20 cm proximal to the anus(defined as UC normal)(P<0.05).Simultaneously,Jmjd3 expression significantly increased in UC patients(P<0.001),but no difference was found between the different sites in UC patients.H3K27me3 expression in UC patients was significantly down-regulated when compared with normal tissues(P<0.001),but up-regulated in the mild disease activity group in comparison with the moderate disease activity group of UC patients(P<0.05).Jmjd3 Level was negatively correlated with the level of VDR(r=-0.342,P=0.002)and H3K27me3(r=-0.341,P=0.002),while VDR level was positively correlated with H3K27me3(r=0.473,P<0.001).CONCLUSION Serum vitamin D and VDR were inversely correlated with disease activity in active UC.Jmjd3 expression increased in the colonic mucosa of active UC patients and was negatively associated with VDR and H3K27me3 level.

Preparation, properties, and cell attachment/growth behavior of chitosan/acellular derm matrix composite materials

Composite membranes and sponge scaffolds consisting chitosan (CS) and acellular derm matrix (ADM) in six ratios were prepared by solvent evaporation technique and freeze-drying method, respectively. The composite materials were characterized by water contact angle measurement, scanning electron microscopy (SEM), water absorption and HaCat cells compatibility. The SEM result showed that CS/ADM three-dimensional (3D) micro-porous structures were successfully produced. The water absorption value of all scaffolds was over 18 times of its initial weight, which is high enough for skin regeneration scaffold, but there were no significant differences of water absorption ratio between deionized water and PBS solution for same scaffold (P > 0.05). HaCat cells were distributed uniformly on the surfaces of membrane 4-6, and an almost confluent monolayer was formed on membrane 6 on the fifth day, whereas cells maintained round and spherical in shape on the surface of membrane 1. The results showed that the cell compatibility of pure CS membrane needed to be improved, and addition of ADM realized this purpose. The results of compatibility of HaCat cells on scaffolds showed that the cell proliferated well on the scaffolds 3 and 4. In our study, the cell’s attachment and growth on the composite membranes was mainly determined by the content of the membrane, whereas the cell’s attachment and growth in the scaffolds was determined by both the content and structure of the scaffolds.

Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo

Objective To investigate the genetic causes of sudden sensorineural hearing loss(SSNHL)patients in China.This study focused on analyzing variations of coding sequence of common genes related to deafness,revealing the molecular pathogenesis of sudden deafness from a genomics perspective,discovering molecular markers associated with the onset of deafness,and then supplying prevention to high-risk populations,classifying disease according to accurate etiology,and choosing a much more precision therapy.Methods We retrospectively analyzed the clinical characteristics of 51 patients diagnosed as SSNHL with vertigo treated in the Chinese PLA General Hospital.In this study,mutation screening of 307 nuclear genes and mitochondrial genome responsible for human or mouse deafness was performed on the 51 cases of unilateral sudden deafness patients with vertigo.Results We identified 51 cases of unilateral sudden deafness,including 2 cases of low-mid frequency hearing impairment,18 cases of mid-high frequency hearing loss,11 cases of flat-type hearing loss,and 20 cases of all frequency hearing loss.Among the 51 cases,8(15.69%)cases of GJB2 heterozygous variations,1(1.96%)case of GJB3 heterozygous variations,5(9.8%)cases of SLC26A4 heterozygous variations,2(3.92%)cases of COCH heterozygous variations,14(27.45%)cases of CDH23 heterozygous variations,14(27.45%)cases of OTOF heterozygous variations,1(1.96%)case of SLC17A8 heterozygous variations and 2(3.92%)cases of KCNE1 heterozygous variations.No mtDNA gene variations were identified.Conclusion SSNHL has some relationship with hereditary in Chinese population,but its complex genetic pathogenic mechanisms need further study.

Clinical characteristics of sudden hearing loss during pregnancy

Objective:The objective of this study was to explore the clinical characteristics and management of sudden hearing loss(HL)during pregnancy,thus better guiding the clinical practice.Methods:The clinical and follow-up data of 17 patients(17 ears)with sudden HL during pregnancy were analyzed retrospectively(the observe group).Twelve nonpregnant female patients(12 ears)with sudden HL of similar clinical characteristics were selected as the control group.The prognosis of the two groups was compared.All the patients were followed up after delivery,and two of them were readmitted to the hospital 1–2 months after delivery.Results:The observe group had better improvement in hearing and a higher response rate compared to the control group.The pure tone hearing and speech recognition rate of patients could still be improved after the readmitted treatment,and the hearing could partially recover spontaneously during follow-up.The laboratory indicators that affect the inflammatory response and coagulation pathway were significantly different between the two groups.Conclusions:The hearing condition of sudden HL during pregnancy is severe,and the prognosis of these patients is better than nonpregnant patients of similar clinical characteristics.Postpartum treatment is still effective,and some patients showed self-healing with time during follow-up.The inflammatory response and coagulation function may affect the hearing of patients through a metabolic pathway.

AIFM1 variants associated with auditory neuropathy spectrum disorder cause apoptosis due to impaired apoptosis-inducing factor dimerization

Auditory neuropathy spectrum disorder(ANSD)represents a variety of sensorineural deafness conditions characterized by abnormal inner hair cells and/or auditory nerve function,but with the preservation of outer hair cell function.ANSD represents up to 15%of individuals with hearing impairments.Through mutation screening,bioinformatic analysis and expression studies,we have previously identified several apoptosis-inducing factor(AIF)mitochondria-associated 1(AIFM1)variants in ANSD families and in some other sporadic cases.Here,to elucidate the pathogenic mechanisms underlying each AIFM1 variant,we generated AIF-null cells using the clustered regularly interspersed short palindromic repeats(CRISPR)/CRISPR-associated protein 9(Cas9)system and constructed AIF-wild type(WT)and AIF-mutant(mut)(p.T260A,p.R422W,and p.R451Q)stable transfection cell lines.We then analyzed AIF structure,coenzyme-binding affinity,apoptosis,and other aspects.Results revealed that these variants resulted in impaired dimerization,compromising AIF function.The reduction reaction of AIF variants had proceeded slower than that of AIF-WT.The average levels of AIF dimerization in AIF variant cells were only 34.5%-49.7%of that of AIF-WT cells,resulting in caspase-independent apoptosis.The average percentage of apoptotic cells in the variants was 12.3%-17.9%,which was significantly higher than that(6.9%-7.4%)in controls.However,nicotinamide adenine dinucleotide(NADH)treatment promoted the reduction of apoptosis by rescuing AIF dimerization in AIF variant cells.Our findings show that the impairment of AIF dimerization by AIFM1 variants causes apoptosis contributing to ANSD,and introduce NADH as a potential drug for ANSD treatment.Our results help elucidate the mechanisms of ANSD and may lead to the provision of novel therapies.

Clinical Study on 136 Children with Sudden Sensorineural Hearing Loss

Background：The prevalence of sudden sensorineural hearing loss in children （CSSNHL） is consistently increasing.However,the pathology and prognosis of CSSNHL are still poorly understood.This retrospective study evaluated clinical characteristics and possible associated factors of CSSNHL.Methods：One hundred and thirty-six CSSNHL patients treated in Department of Otolaryngology-Head and Neck Surgery and Institute of Otolaryngology at Chinese PLA General Hospital between July 2008 and August 2015 were included in this study.These patients were analyzed for clinical characteristics,audiological characteristics,laboratory examinations,and prognostic factors.Results：Among the 136 patients （151 ears）,121 patients （121 ears,80.1%） were diagnosed with unilaterally CSSNHL,and 15 patients （30 ears,19.9%） with bilateral CSSNHL.The complete recovery rate of CSSNHL was 9.3%,and the overall recovery rate was 37.7%.We found that initial degree of hearing loss,onset of treatment,tinnitus,the ascending type audiogram,gender,side of hearing loss,the recorded auditory brainstem response （ABR）,and distortion product otoacoustic emissions （DPOAEs） had prognostic significance.Age,ear fullness,and vertigo had no significant correlation with recovery.Furthermore,the relevant blood tests showed 30.8% of the children had abnormal white blood cell （WBC） counts,22.1% had elevated homocysteine levels,65.8% had high alkaline phosphatase （ALP）,33.8% had high IgE antibody levels,and 86.1% had positive cytomegalovirus （CMV） IgG antibodies.Conclusions：CSSNHL commonly occurs unilaterally and results in severe hearing loss.Initial severe hearing loss and bilateral hearing loss are negative prognostic factors for hearing recovery,while positive prognostic factors include tinnitus,gender,the ascending type audiogram,early treatment,identifiable ABR waves,and DPOAEs.Age,vertigo,and ear fullness are not correlated with the recovery.Some serologic indicators,including the level of WBC,platelet,homocysteine,ALP,positive CMV IgG antibody,fibrinogen,and some immunologic indicators,are closely related to CSSNHL.

Comparison between Bilateral and Unilateral Sudden Sensorineural Hearing Loss

Background：Bilateral sudden sensorineural hearing loss （BSSHL） is rare and assumed to be a different clinical entity compared to unilateral SSHL （USSHL）.This study examined the differences between the idiopathic BSSHL and USSHL.Methods：Forty-six sequential BSSHL patients （Se-BSSHL） and 68 simultaneous BSSHL （Si-BSSHL） were consecutively admitted between June 2008 and December 2015.Two sets of patients served as control groups：（1） USSHL patients with healthy contralateral ear and （2） USSHL patients with contralateral preexisting hearing loss （USSHLwCHL）.We retrospectively analyzed differences among four cohorts using analysis of variance,Kruskal-Wallis test,Welch＇s t-test,and Chi-square test as appropriate before and after propensity score matching （PSM） based on age,gender,and body mass index （BMI）.Results：The prevalence of idiopathic BSSHL was 8.6% （114/1329） among the total SSHL patients.In the total cohort,USSHL patients tended to be younger,female,and tended to have lower BMI,renal parameters,and total cholesterol in addition to higher high-density lipoprotein compared to the other three groups.Most routine blood indicators,some coagulation markers,and immunoglobulin M （H =13.4,P =0.004） were significantly different among the study groups.After PSM,the major significant differences were found in audiometric characteristics.Si-BSSHL and Se-BSSHL patients demonstrated similar hearing thresholds as USSHL but were significantly better than the USSHLwCHL patients across most frequencies before and after treatment （H =30.0,P 〈 0.001 for initial hearing and H =12.0,P =0.007 for final hearing）.Moreover,the BSSHL patients showed different hearing loss distribution patterns （more descending type,x2 =33.8,P =0.001） with less hearing gain （H =17.5,P 〈 0.001） compared to the USSHL patients.Conclusions：Idiopathic BSSHL is a relatively rare subtype of SSHL with a higher rate of descending audiogram type and inferior hearing outcome rather than being classified as a completely different disease entity compared to USSHL.

Endometrial MicroRNA Signature during the Window of Implantation Changed in Patients with Repeated Implantation Failure

Background： At present, a diagnostic tool with high specificity for impaired endometrial receptivity, which may lead to implantation failure, remains to be developed. We aimed to assess the different endometrial microRNA （miRNA） signatures for impaired endometrial receptivity by microarray analysis. Methods： A total of 12 repeated implantation failure （RIF） patients and I0 infertile patients, who conceived and delivered after one embryo transfer attempt, were recruited as RIF and control groups, respectively. Endometrial specimens from the window of implantation （WOI） were collected from these two groups. MiRNA microarray was conducted on seven and five samples from the RIF and control groups, respectively. Comparative, functional, and network analyses were performed for the microarray results. Quantitative real-time polymerase chain reaction （PCR） was performed on other samples to validate the expression of specific miRNAs. Results： Compared with those in the control group, the expression levels of 105 miRNAs in the RIF group were found to be significantly up- or down-regulated （at least 2-fold） by microarray analysis. The most relevant miRNA functional sets of these dysregulated miRNAs were miR-30 family, human embryonic stern cell regulation, epithelial-mesenchymal transition, and miRNA tumor suppressors by tool for annotations ofmicroRNA analysis. Network regulatory analysis found 176 miRNA-mRNA interactions, and the top 3 core miRNAs were has-miR-4668-5p, has-miR-429, and has-miR-5088. Expression levels of the 18 selected miRNAs in new samples by real-time PCR were found to be regulated with the same trend, as the result ofmicroarray analysis. Conclusions： There is a significant different expression of certain miRNAs in the WOI endometrium for RIF patients. These miRNAs may contribute to impaired endometrial receptivity.

Effects of Previous Laparoscopic Surgical Diagnosis of Endometriosis on Pregnancy Outcomes

Background： The association between the previous history ofendometriosis and obstetric outcomes is still ambiguous. This study aimed to evaluate the effects of previous history of operatively diagnosed endometriosis on pregnancy outcomes. Methods： A total of 98 primiparous women who had been diagnosed with endometriosis by previous laparoscopic surgery were included in this retrospective cohort study. Pregnancy outcomes were compared between these women （study group） who had a live birth and 300 women without endometriosis （control group） who had a live birth. In the study group, the pregnancy outcomes of 74 women who conceived naturally （no assisted reproductive technology [ART] subgroup） were simultaneously compared with 24 women who conceived by ART （ART subgroup）. Results： Miscarriage was observed in 23 of 98 women with endometriosis （23.5%）. There were 75 women who had a live birth after laparoscopic diagnosis ofendometriosis in the study group eventually. On multivariate analysis, the postpartum hemorrhage rate increased significantly in the study group when compared with the control group （adjusted odds ratio： 2.265, 95% confidence interval： 1.062, 4.872; P = 0.034）. There was an upward tendency of developing other pregnancy-related complications, such as preterm birth, placental abruption, placenta previa, cesarean section, fetal distress/anemia, and others in the study group than in the control group. However, the differences showed no statistical significance. Within the study group, the occurrence rate of postpartum hemorrhage and preterm birth was both higher in the ART subgroup than in the no ART subgroup. The differences both had statistical significance （44.4% vs. 17.5%, P = 0.024 and 27.8% vs. 1.8%, P = 0.010, respectively）. At the same time, median （interquartile range） for gestational age at delivery in the ART subgroup was significantly shorter than that in the no ART subgroup （38 weeks [36-39 weeks] vs. 39 weeks [38-40 weeks]; P = 0.005）. Conclusions： Endometriosis may affect obstetric outcomes. Women with endometriosis have a higher risk of postpartum hemorrhage. Women with endometriosis who conceived by ART may have a higher risk of postpartum hemorrhage and preterm birth than those conceived naturally.

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

Background： The molecular genetic research showed the association between X-linked bearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. Methods： A series of clinical evaluations including medical history, otologic examinations, l：amily history, audiologic testing, and a high-resolution computed tomography scan were performed t＇or each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products or＇the samples. Moreover, 834 controls with normal hearing were also tested. Results： The pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation （c.499C〉T） was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with bearing loss in this family. No mutation ofPOU3F4 gene was found in 834 controls. Conclusions： A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

Background： Hypoparathyroidism-deafness-renal dysplasia （HDR） syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 （GATA3） gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese t;amily with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. Methods： Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was pertbrmed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial H DR syndrome cases analyzed were provided. Results： In Chinese family 712 l, a heterozygous nonsense mutation c.826C〉T （p.R276＊） was identified in GA TA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases （30%） and two thirds of them were found to carry premature stop mutations. Conclusions： This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.

Molecular genetic studies of familial Meniere’s disease

Dear Editor.Meniere's disease(MD,MIM 156000),a chronic clinical illness affecting the inner ear,presents as episodes of spontaneous vertigo,fluctuating sensorineural hearing loss,tinnitus,and aural fullness.Endolymphatic hydrops in the cochlear duct and vestibular organs is considered the underlying histopathologic characteristic of MD.Most MD cases are sporadic(sporadic Meniere's disease,SMD),and approximately 4%-20%of patients with MD have a familial history.

Uterine Artery Rupture After Induced Abortion and Extraction of an Intrauterine Device

An intrauterine device （IUD） is a safe, effective, simple, and reversible method tbr birth control, but some women with IUD may still become pregnant. Induced abortion is the main method for termination of pregnancy. If induced abortion is not well-managed in these patients, it may result in serious vaginal bleeding and uterine rupture. We report a case of uterine artery rupture after induced abortion combined with extraction of an IUD. This case highlights the necessity of a standard operation for complicated induced abortion, and the value of interventional therapy, such as uterine artery embolization （UAE）, for controlling serious vaginal bleedit3g.

Understanding auditory neuropathy spectrum disorder： a system- atic review in transgenic mouse models

Auditory neuropathy spectrum disorder is a unique group of hearing dysfunctions characterized by preserved outer hair cell function and abnormal neural conduction of the auditory pathway. However, the pathogenic mechanism underlying this disorder is not clear. We therefore performed a systematic review of genetic mouse models with different gene mutations to provide a valuable tool for better understanding of the process and the possible molecular mechanisms. Of the 18 articles retrieved, nine met the required criteria. All biochemical, histological, and electrophysiological results were recorded for each of the mouse models, as was the transgenic technology. This review provides a summary of different mouse models that may play an important role in the diagnosis and management of auditory neuropathy spectrum disorder in the future.

A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases

Dear Editor,Actins are a family of essential cytoskeletal proteins involved in nearly all cellular processes（Lambrechts et al.,2004）.Of the six human genes that encode actins,only ACTG1and ACTB are ubiquitously expressed.ACTG1（OMIM#604717）,which is linked to the DFNA20/26 locus,wasidentified in autosomal dominant, non-syndromic hearing loss （NSHL） cases （Baek et al., 2012; Liu et al., 2008; Park et al., 2013; Yuan et al., 2016）. In addition, some ACTG1 （OMIM #614583） mutations are associated with Baraitser-Winter syndrome, which is characterized by developmental delay, facial dysmorphologies, brain malformations, colobomas, and variable hearing loss （Riviere et al., 2012）.