Genetic counseling for hearing loss today / 临床耳鼻咽喉头颈外科杂志

Genetic counseling for hearing loss today originated from decoding the genetic code of hereditary hearing loss, which serves as an effective strategy for preventing hearing loss and constitutes a crucial component of the diagnostic and therapeutic framework. This paper described the main principles and contents of genetic counseling for hearing loss, the key points of counseling across various genetic models and its application in tertiary prevention strategies targeting hearing impairment. The prospects of an AI-assisted genetic counseling decision system and the envisions of genetic counseling in preventing hereditary hearing loss were introduced. Genetic counseling for hearing loss today embodies the hallmark of a new era, which is inseparable from the advancements in science and technology, and will undoubtedly contribute to precise gene intervention!

Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children / 临床耳鼻咽喉头颈外科杂志

Objective:To analyze genetic factors and phenotype characteristics in pediatric population with slight-to-moderate sensorineural hearing loss. Methods:Children with slight-to-moderate sensorineural hearing loss of and their parents, enrolled from the Chinese Deafness Genome Project, were studied. Hearing levels were assessed using pure tone audiometry, behavioral audiometry, auditory steady state response（ASSR）, auditory brainstem response（ABR） thresholds, and deformed partial otoacoustic emission（DPOAE）. Classification of hearing loss is according to the 2022 American College of Medical Genetics and Genomics（ACMG） Clinical Practice Guidelines for Hearing Loss. Whole exome sequencing（WES） and deafness gene Panel testing were performed on peripheral venous blood from probands and validations were performed on their parents by Sanger sequencing. Results:All 134 patients had childhood onset, exhibiting bilateral symmetrical slight-to-moderate sensorineural hearing loss, as indicated by audiological examinations. Of the 134 patients, 29（21.6%） had a family history of hearing loss, and the rest were sporadic patients. Genetic causative genes were identified in 66（49.3%） patients. A total of 11 causative genes were detected, of which GJB2 was causative in 34 cases（51.5%）, STRC in 10 cases（15.1%）, MPZL2 gene in six cases（9.1%）, and USH2A in five cases（7.6%）.The most common gene detected in slight-to-moderate hearing loss was GJB2, with c. 109G>A homozygous mutation found in 16 cases（47.1%） and c. 109G>A compound heterozygous mutation in 9 cases（26.5%）. Conclusion:This study provides a crucial genetic theory reference for early screening and detection of mild to moderate hearing loss in children, highlighting the predominance of recessive inheritance and the significance of gene like GJB2, STRC, MPZL2, USH2A.

Distribution characteristics and correlation analysis of GJB2 variation in patients with auditory neuropathy / 临床耳鼻咽喉头颈外科杂志

Objective:To elucidate the correlation between the GJB2 gene and auditory neuropathy, aiming to provide valuable insights for genetic counseling of affected individuals and their families. Methods:The general information, audiological data（including pure tone audiometry, distorted otoacoustic emission, auditory brainstem response, electrocochlography）, imaging data and genetic test data of 117 auditory neuropathy patients, and the patients with GJB2 gene mutation were screened out for the correlation analysis of auditory neuropathy. Results:Total of 16 patients were found to have GJB2 gene mutations, all of which were pathogenic or likely pathogenic.was Among them, one patient had compound heterozygous variants GJB2[c. 427C>T][c. 358_360del], exhibiting total deafness. One was GJB2[c. 299_300delAT][c. 35_36insG]compound heterozygous variants, the audiological findings were severe hearing loss.The remaining 14 patients with GJB2 gene variants exhibited typical auditory neuropathy. Conclusion:In this study, the relationship between GJB2 gene and auditory neuropathy was preliminarily analyzed,and explained the possible pathogenic mechanism of GJB2 gene variants that may be related to auditory neuropathy.

Splicing mutations of GSDME cause late-onset non-syndromic hearing loss / 临床耳鼻咽喉头颈外科杂志

Objective:To dentify the genetic and audiological characteristics of families affected by late-onset hearing loss due to GSDMEgene mutations, aiming to explore clinical characteristics and pathogenic mechanisms for providing genetic counseling and intervention guidance. Methods:Six families with late-onset hearing loss from the Chinese Deafness Genome Project were included. Audiological tests, including pure-tone audiometry, acoustic immittance, speech recognition scores, auditory brainstem response, and distortion product otoacoustic emission, were applied to evaluate the hearing levels of patients. Combining with medical history and physical examination to analyze the phenotypic differences between the probands and their family members. Next-generation sequencing was used to identify pathogenic genes in probands, and validations were performed on their relatives by Sanger sequencing. Pathogenicity analysis was performed according to the American College of Medical Genetics and Genomics Guidelines. Meanwhile, the pathogenic mechanisms of GSDME-related hearing loss were explored combining with domestic and international research progress. Results:Among the six families with late-onset hearing loss, a total of 30 individuals performed hearing loss. The onset of hearing loss in these families ranged from 10 to 50 years（mean age: 27.88±9.74 years）. In the study, four splicing mutations of the GSDME were identified, including two novel variants: c. 991－7C>G and c. 1183+1G>T. Significantly, the c. 991－7C>G was a de novo variant. The others were previously reported variants: c. 991-1G>C and c. 991-15_991-13del, the latter was identified in three families. Genotype-phenotype correlation analysis revealed that probands with the c. 991－7C>G and c. 1183+1G>T performed a predominantly high-frequency hearing loss. The three families carrying the same mutation exhibited varying degrees of hearing loss, with an annual rate of hearing deterioration exceeding 0.94 dB HL/year. Furthermore, follow-up of interventions showed that four of six probands received intervention（66.67%）, but the results of intervention varied. Conclusion:The study analyzed six families with late-onset non-syndromic hearing loss linked to GSDME mutations, identifying four splicing variants. Notably, c. 991－7C>G is the first reported de novo variant of GSDME globally. Audiological analysis revealed that the age of onset generally exceeded 10 years,with variable effectiveness of interventions.

Therapeutic potential of NADH: in neurodegenerative diseases characterizde by mitochondrial dysfunction / 临床耳鼻咽喉头颈外科杂志

Nicotinamide adenine dinucleotide（NADH） in its reduced form of is a key coenzyme in redox reactions, essential for maintaining energy homeostasis.NADH and its oxidized counterpart, NAD+, form a redox couple that regulates various biological processes, including calcium homeostasis, synaptic plasticity, anti-apoptosis, and gene expression. The reduction of NAD+/NADH levels is closely linked to mitochondrial dysfunction, which plays a pivotal role in the cascade of various neurodegenerative disorders, including Parkinson's disease and Alzheimer's disease.Auditory neuropathy（AN） is recognized as a clinical biomarker in neurodegenerative disorders. Furthermore, mitochondrial dysfunction has been identified in patients with mutations in genes like OPA1and AIFM1. However, effective treatments for these conditions are still lacking. Increasing evidence suggests that administratering NAD+ or its precursors endogenously may potentially prevent and slow disease progression by enhancing DNA repair and improving mitochondrial function. Therefore, this review concentrates on the metabolic pathways of NAD+/NADH production and their biological functions, and delves into the therapeutic potential and mechanisms of NADH in treating AN.

Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss / 临床耳鼻咽喉头颈外科杂志

Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.

A case of sudden hearing loss combined with familial hyperlipidemia / 临床耳鼻咽喉头颈外科杂志

Hyperlipidemia is characterized by elevated levels of blood lipids. The clinical manifestations are mainly atherosclerosis caused by the deposition of lipids in the vascular endothelium. The link between abnormal lipid metabolism and sudden hearing loss remains unclear. This article presents a case study of sudden hearing loss accompanied by familial hyperlipidemia. Pure tone audiometry indicated intermediate frequency hearing loss in one ear. Laboratory tests showed abnormal lipid metabolism, and genetic examination identified a heterozygous mutation in theAPOA5 gene. Diagnosis: Sudden hearing loss; hypercholesterolemia. The patient responded well to pharmacological treatment. This paper aims to analyze and discuss thepotential connection between abnormal lipid metabolism and sudden hearing loss.

Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report / 临床耳鼻咽喉头颈外科杂志

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

AIFM1 variants associated with auditory neuropathy spectrum disorder cause apoptosis due to impaired apoptosis-inducing factor dimerization / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

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.

Value of plasma Epstein-Barr virus DNA detection in the screening of nasopharyngeal carcinoma and its clinical application in non-high-risk areas / 中华检验医学杂志

Objective:To investigate the value of plasma Epstein-Barr virus (EBV) DNA detection in the screening of nasopharyngeal carcinoma (NPC) and its clinical application in non-high-risk areas.Methods:Plasma EBV DNA results in 1 153 newly diagnosed nasopharyngeal carcinoma patients who were treated in Sichuan Cancer Hospital from 2015 to 2020 and 244 healthy control cases with matched sex and age were retrospectively analyzed. EBV DNA were detected by quantitative real-time PCR. Positive rate of EBV DNA was determined by the cutoff value of 400 (≥400 copies/ml as positive) and optimization threshold method (presence of S amplification curve as positive). Further analyses were conducted to compare EBV DNA load in different clinical stage, TNM stage and regions distribution characteristics. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the diagnostic value of the cutoff value of 400 and optimization threshold method for NPC.Results:Compared with healthy controls, EBV DNA increased significantly in newly diagnosed NPC patients ( P<0.001). Both evaluation methods revealed that the EBV DNA positive percentage increased with TNM and clinical stage ( P<0.001). With 400 copies/ml as cutoff value, the diagnostic sensitivity and specificity were 40.85% and 100%, respectively. The area under the curve was 0.704 (95% CI 0.676-0.733, P<0.001). Evaluated by the optimization threshold method, the sensitivity and specificity could improve to 82.0% and 99.2%, respectively, and the area under the curve reached 0.910 (95% CI 0.894-0.924, P<0.001). Conclusions:In the low prevalence area of nasopharyngeal carcinoma, the sensitivity for diagnosis of nasopharyngeal carcinoma is only 40.9% by the 400 copies/ml cutoff value method. The optimization threshold method is a better choice to improve the diagnostic sensitivity without lowering the diagnostic specificity.

Y chromosome-related genetic diseases / 中华医学遗传学杂志

As a male-specific chromosome, the structure of Y chromosome is complex and lacks of recombination, with numerous repeating, amplifying and palindromic sequences. The research of Y chromosome is difficult and slow since there are few protein coding genes and a large amount of heterochromatin which has caused extreme difficulty for sequencing. In recent years, an increasing number of studies have been focused on the Y chromosome. With the completion of the sequencing of human Y chromosome, the rapid development of sequencing technology, and the composition of DNA sequences in human Y chromosomes and the determination of gene content. This paper has summarized the structural composition and genes function of human Y chromosome, as well as the related hereditary diseases, with an aim to provide reference for Y chromosome-related genetic research.

Study on the plasma level of pentraxin 3 and fibroblast growth factors 2 and its association with disease activity in systemic lupus erythematosus patients / 中华风湿病学杂志

Objective:To elucidate the correlation between peripheral blood levels of pentraxin 3 (PTX3) and fibroblast growth factors 2 (FGF2) and clinical manifestations, immunological indexes and disease activity of systemic lupus erythematosus (SLE) patients.Methods:The correlation between peripheral blood levels of PTX3 and FGF2 and clinical manifestations, immunological indexes and disease activity of SLE pa-tients was determined. T test, Mann-Whitney U test and Spearman's rank correlation coefficient were analyzed statistically. Results:Plasma PTX3 levels were significantly higher in SLE patients than in healthy controls (3 191±2 423) pg/ml vs (755±432) pg/ml, t=5.595, P<0.01) . The titer of PTX3 in patients with hematologic in-volvement was higher than that in the patients without [(3 810±2 840) pg/ml vs (2 493±1 830) pg/ml, t=2.008, P=0.049). Plasma PTX3 concentration in SLE patients was positively correlated not only with the level of 24 h urine protein ( r=0.498 6, P=0.005 9), but also with ESR ( r= 0.376, P=0.007) and systemic lupus erythematosus disease activity index (SLEDAI) scores ( r=0.405, P=0.003). On the contrast, plasma PTX3 concentration in SLE patients was negatively correlated with complement 3 ( r=-0.405, P=0.005). Increased serum PTX3 levels accompanied by increased serum FGF2 levels was observed. Plasma FGF2 concentration in SLE patients was positively correlated with SLEDAI scores ( r=0.326, P=0.019), but negatively correlated with level of comple-ment 3 ( r=-0.414, P=0.004) and complement 4 ( r=-0.451, P=0.007). Levels of FGF2 were higher in patients with positive anti-NuA antibody [(138±91) pg/ml vs (59±68) pg/ml, t=2.996, P=0.004 2), anti-dsDNA antibody [(120±96) pg/ml vs (56±58) pg/ml, t=3.583, P=0.000 7] and anti-rRNP antibody (151±109) pg/ml vs (63±61) pg/ml, t=3.757, P=0.000 4) than in patients with negative of these antibodies. Conclusion:The levels of PTX3 and FGF2 in peripheral blood may play a role in determining the disease activity and clinical phenotype of SLE, and can help doctors to make diagnosis and treatment decisions.

Diagnosis and outcome analysis of diseases characterized by recurrent low-frequency sensorineural deafness / 临床耳鼻咽喉头颈外科杂志

The aim of this study was to explore the clinical features, hearing prognosis and differential diagnosis of recurrent low frequency sensorineural hearing loss （RLFD） . The clinical characteristics, clinical manifestations, audiological examination and auxiliary examination of RLFD patients were retrospectively analyzed. We summarized clinical features, draw the pure tone audiometry curves, and analyze the diagnosis of RLFD. Forty-seven patients （53 ears） with RLFD had a hearing review time of 1-124 months. The course of disease ranged from 3 to 320 months with an average course of 29 months. ①The incidence of tinnitus in the accompanying symptoms was 93.6%（44 cases）, and the ear suffocation was 83.0%（39 cases）, 38.3% （18 cases） of the patients developed vestibular symptoms during the course of the disease. ②During the observation period, 27 cases（57.4%） were diagnosed with related diseases: 7 cases（14.9%） Meniere's disease, 6 cases（12.8%） vestibular migraine, 2 cases（4.3%） with Meniere's disease and migraine, and 1 case（2.1%） with idiopathic intracranial hypotension 11 cases（23.4%） were possible cochlear migraine; ③Migraine-related RLFD had a younger onset age, more common in women; ④83.0%（44 ears）of the affected ears had stable or improved low-frequency hearing during the observation period, 17.0%（9 ears）of the affected ears experienced low-frequency hearing; ⑤18.9%（10 ears）of the affected ears had high-frequency hearing loss; ⑥RLFD had 6 types of audiological outcomes: low-frequency improvement combined with high-frequency stability; low-frequency stability combined with high-frequency stability; low frequency progress combined with high frequency stability type; low frequency improvement combined with high frequency progress type; low frequency stability combined with high frequency progress type; low frequency progress combined with high frequency progress type; ⑦Rising type hearing curve low frequency hearing prognosis is good, mountain type and descending low frequency hearing prognosis is poor. Tinnitus and ear stuffiness are the early symptoms and the most disturbing symptoms in patients with RLFD. The mechanism of Migraine may play an important role in the pathogenesis of RLFD. The rare causes such as intracranial hypotension syndrome should not be ignored. Most of the patients with RLFD had stable or improved hearing after long-term fluctuation, but some patients with low or high frequency hearing might decline. The type of initial hearing curve was a prognostic factor. Long-term hearing follow-up is helpful for prognosis evaluation.

Diagnosis and outcome analysis of diseases characterized by recurrent low-frequency sensorineural deafness / 临床耳鼻咽喉头颈外科杂志

Objective@#The aim of this study was to explore the clinical features, hearing prognosis and differential diagnosis of recurrent low frequency sensorineural hearing loss （RLFD） . @*Method@#The clinical characteristics, clinical manifestations, audiological examination and auxiliary examination of RLFD patients were retrospectively analyzed. We summarized clinical features, draw the pure tone audiometry curves, and analyze the diagnosis of RLFD. @*Result@#Forty-seven patients （53 ears） with RLFD had a hearing review time of 1-124 months. The course of disease ranged from 3 to 320 months with an average course of 29 months. ①The incidence of tinnitus in the accompanying symptoms was 93.6%（44 cases）, and the ear suffocation was 83.0%（39 cases）, 38.3% （18 cases） of the patients developed vestibular symptoms during the course of the disease. ②During the observation period, 27 cases（57.4%） were diagnosed with related diseases: 7 cases（14.9%） Meniere's disease, 6 cases（12.8%） vestibular migraine, 2 cases（4.3%） with Meniere's disease and migraine, and 1 case（2.1%） with idiopathic intracranial hypotension 11 cases（23.4%） were possible cochlear migraine; ③Migraine-related RLFD had a younger onset age, more common in women; ④83.0%（44 ears）of the affected ears had stable or improved low-frequency hearing during the observation period, 17.0%（9 ears）of the affected ears experienced low-frequency hearing; ⑤18.9%（10 ears）of the affected ears had high-frequency hearing loss; ⑥RLFD had 6 types of audiological outcomes: low-frequency improvement combined with high-frequency stability; low-frequency stability combined with high-frequency stability; low frequency progress combined with high frequency stability type; low frequency improvement combined with high frequency progress type; low frequency stability combined with high frequency progress type; low frequency progress combined with high frequency progress type; ⑦Rising type hearing curve low frequency hearing prognosis is good, mountain type and descending low frequency hearing prognosis is poor. @*Conclusion@#Tinnitus and ear stuffiness are the early symptoms and the most disturbing symptoms in patients with RLFD. The mechanism of Migraine may play an important role in the pathogenesis of RLFD. The rare causes such as intracranial hypotension syndrome should not be ignored. Most of the patients with RLFD had stable or improved hearing after long-term fluctuation, but some patients with low or high frequency hearing might decline. The type of initial hearing curve was a prognostic factor. Long-term hearing follow-up is helpful for prognosis evaluation.

Genetics research on vestibular migraine / 中华耳鼻咽喉头颈外科杂志

The combination of vertigo, dizziness and balance disturbance with migraine is called vestibular migraine, which is frequently reported in clinical neurology. However, the exact pathophysiological mechanisms of vestibular migraine still remain unclear. Familial occurrence of VM has been reported, suggesting a genetic component. With the rapid development of molecular genetic technology in recent decades, the genetic research about vestibular migraine has become a hot topic. The outcomes of molecular genetic studies of vestibular migraine could benefit to unveil the mysterious causes of this disorder. The present review summarized the molecular genetic studies of vestibular migraine.

Introduction to the influence of fixed in advance of NAP dyeing / 国际检验医学杂志

Objective To explore the influence of fixed in advance on the positive rate and integral of neutrophilic alkaline phosphatase (NAP) dyeing.Methods Totally 182 cases of fresh venous blood from inpatients in the top three hospital department of hematology were randomly selected and anticoagulated in the EDTA-K2 vacuum tube.Three blood smears from which were prepared as follows:the first blood smear(Named A) NAP dyeing completed within an hour;the second one (Named B) were fixed in advanceand NAP dyeing after one day;the third one (Named C) didn′t do any processing and NAP dyeing after one day.At the same time,the blood samples were taken from the fresh blood,and the blood smears were prepared and stained with NAP in an hour.NAP dyeing were performed by NAP dyeing for the blood smears,and 100 neutral rods,nucleus granulocyte were observed under microscope in the oil mirror vision,the test results record by positive rate and integral.Results No significant difference of NAP positive rate and integral was found in EDTA-K2 anticoagulation venous blood smear A when compared with fresh peripheral blood(P>0.05).The NAP positive rate and integral of EDTA-K2 anticoagulation venous blood smear B was slightly lower than that from fresh peripheral blood,but no significant difference was found(P>0.05).However,the NAP positive rate and integral in EDTA-K2 anticoagulant venous blood smear C has a significant difference from fresh peripheral blood(P<0.05).Conclusion The NAP dyeing results of EDTA-K2 anticoagulation venous blood smear fixed and placed one days are still reliable,while the NAP dyeing results was significantly reduced in the unfixed EDTA-K2 anticoagulation venous blood smear placed after one day.

Impact of reducing cut-point for impaired fasting glucose on the evaluation of the risk of gestational diabetes mellitus / 中华内分泌代谢杂志

_ Objective_ To analyze the relationship between the fasting plasma glucose ( FPG ) of pre-pregnancy women and occurrence of gestational diabetes mellitus( GDM) , and to explore the value of risk evaluation of GDM by lowerling cut-point for impaired fasting glucose ( IFG ) . Methods The general clinic check information before pregnancy, the plasma glucose levels during 24-28 weeks of pregnancy and pregnancy outcomes were collected prospectively in Weifang and Zhucheng Maternal and Child Health Hospital between February 2014 and November 2014. The FPG levels of the recruited women were lower than 6. 1 mmol/L. According to the criteria for GDM of Ministry of Health (MOH)of China in 2011, and based on the results of 75 g oral glucose tolerance test, pregnant women who underwent screening for GDM were recruited and separated into normal group and GDM group. Based on the FPG levels before pregnancy and according to the recommendation as American Diabetes Association ( ADA ) suggested in 2003, recruited women with normal FPG level according to World Health Organization ( WHO) criteria (1999)were divided into 5. 6-6. 1 mmol/L and<5. 6 mmol/L groups. Results Among the child-bearing age women with FPG<6. 1 mmol/L, the incidences of GDM and macrosomia were 19. 2% and 8. 2% respectively. In the group with FPG between 5. 6 and 6. 1 mmol/L, incidences of GDM and macrosomia were 34. 2% and 4. 7%respectively. While in the group with FPG<5. 6 mmol/L, incidences of GDM and macrosomia were 13. 2% and 15. 3% respectively. The risks of GDM and macrosomia were increased by 2. 6 times and 3. 3 times respectively in group with FPG between 5. 6 and 6. 1 mmol/L (34. 5%), compared with that in group with FPG<5. 6 mmol/L(P<0. 01). Age, FPG, and body mass index before pregnancy in GDM group were significantly higher than those in normal group. The receiver operating characteristic curves in predicting GDM showed that the optimum cut-points for age, FPG, and body mass index were 30 years old, 5. 55 mmol/L, and 23. 7 kg/m2 respectively. Conclusions The risk of GDM in childbearing aged women with FPG from 5. 55 to 6. 10 mmol/L was markedly increased. The optimum cut-point for FPG (5. 55 mmol/L) in predicting GDM was close to the low limit for IFG (5. 6 mmol/L) suggested by ADA in 2003. Decreasing the lower limit of IFG to 5. 6 mmol/L among women who checked before pregnancy and paying attention to those women with FPG from 5. 6 to 6. 1 mmol/L would have advantage to the evaluation and prevention of GDM.

The Wave Analysis of Auditory Brainstem Responses in Normal Adult Wistar Rat / 听力学及言语疾病杂志

Objective To investigate the click and tone burst evoked auditory brainstem responses (ABR)in normal Wistar rat,and to establish the standards of ABR testing method,and to provide a reference for studies rat audition.Methods Fifteen male Wistar rats(30 ears)were used in this sutdy.The latency and amplitude of ABR e-voked by click and TB at 80,50 and 20 dB SPL were measured.Results The occurrence rate of wave Ⅱand Ⅳat low levels(20 dB SPL)was nearly the same according to the amplitude.The cABR (dB peSPL)threshold was 21.83± 4.45 and tbABR (dB SPL)thresholds were 2.02±0.09,2.88±0.16,3.77±0.25,4.69±0.29,and 5.78±0.41, respectively.80 dB stimulus evoked cABR (peSPL)wave I,I b,II,III,IV and V latency (ms)were 1.76±0.12, 2.13±0.11,2.67±0.16,3.49±0.28,4.39±0.29,and 5.45±0.41,respectively.tbABR (SPL)of wave I,Ib, II,III,IV and V latency (ms)at 4 kHz were 2.02±0.09,2.88±0.16,3.77±0.25,4.69±0.29,and 5.78± 0.41,respectively.At 8 kHz they were 1.76±0.07,2.28±0.10,2.63±0.16,3.49±0.21,4.44±0.28,and 5.48±0.43;while at 12 kHz were1.76±0.08,2.24±0.12,2.61±0.25,3.53±0.25,4.46±0.32,and 5.52± 0.45;at 16 kHz were 1.79±0.10,2.25±0.12,2.70±0.18,3.62±0.27,4.52±0.37,and 5.61±0.49;at 24 kHz were 1.75±0.09,2.27±0.11,2.67±0.16,3.60±0.27,4.52±0.38,and 5.60±0.51;at 32 kHz were 1.77±0.10,2.24±0.12,2.64±0.20,3.59±0.34,4.52±0.40,and 5.61±0.52,respectively.Conclusion Wave Ⅳ was the best wave to determine threshold of click and tone burst evoked auditory brainstem response in rat.

Advances in hereditary hearing loss caused by TMC1 mutations / 中华耳鼻咽喉头颈外科杂志

Hearing loss is the most frequent sensorineural disorder worldwild, among which about 50% are caused by genetic factors. TMC1 is one of the common genes causing hereditary hearing loss. TMC1 mutations can cause pre-lingual profound/severe autosomal recessive (DFNB7/11) and post-lingual progressive autosomal dominant (DFNA36) non-syndromic hearing loss. Murine models studies show that TMC1, 2 are expressed in cochlea inner and outer hair cells and maintain normal mechanoelectrical transduction (MET) functions of the hair cells. A growing number of evidence indicate that TMC1, 2 are components of the MET complex. It is necessary to definite the precise distribution and exact function of TMC1, 2, because it is important to understand the regulating mechanism of auditory function.

The study of clinical characteristics of sudden sensorineural hearing loss patients with tinnitus / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analysis the characteristics of sudden sensorineural hearing loss (SSHL) patients with tinnitus, and explore the relationship of characteristics of tinnitus and audiology.@*METHOD@#Patients diagnosed as SSHL with tinnitus were studied in the research. All patients' clinical features were analyzed, such as tinnitus frequency, pure tone audiometry, tinnitus, hearing loss degree, results of residual inhibition test.@*RESULT@#Thirty cases were identified as mild degree hearing loss, 13 cases as moderate degree, 28 cases as severe degree and 34 cases as profound degree. And hearing impaired frequency of 13 cases was ascertained at low-frequency, 39 cases at middle-high-frequency, and 53 cases at full-range-frequency. The incidence of patients with low-frequency was about 41. 9% (44/105), and it was about 21. 9% (23/105) in those with middle-frequency. And it was 36. 2% (38/105) in cases of high-frequency tinnitus. The chi-square test show statistically significant differences between patients with the low-frequency, middle-frequency and high-frequency of the hearing loss (P<0. 05). In tinnitus residual inhibition test, positive rate of convergence type masking curve was about 72.0%, tinnitus separated type masking curve 20.0%, overlapping type was 57.9%, and the spacing type was 43.5%. There was a statistically significant difference among cases with different type masking curve (P<0. 05)with the spacing residual inhibition test positive rate.@*CONCLUSION@#There are individual differences of clinical characteristics among SSHL patients with tinnitus. Tinnitus frequency is consistent with the frequency of hearing loss. Patients had the more serious the degree of hearing loss, who had more serious tinnitus grading. Cases with the converged type curve will be fit for tinnitus masking. Therefore, combining the tinnitus detection with the audiological tests, we could obtain the clinical characteristics of SSHL patients with tinnitus.