Distribution and survival outcomes of primary head and neck hematolymphoid neoplasms in older people: a population-based study.

Primary head and neck hematolymphoid neoplasms (PHNHLN) are defined as a series of hematolymphoid system-derived neoplasms which primarily emanate in head and neck region. Due to the rarity and absence of symptomatic specificity, PHNHLN is easily neglected. The objective of this study is to investigate demographics, pathological subtype distribution, anatomical location, survival outcomes and prognostic factors of PHNHLN among older patients aged ≥ 60. The individual patient information in our study was derived from Surveillance, Epidemiology and End Results database. Descriptive epidemiological methods were used to analyze the distribution of histologic subtypes and primary anatomical sites. Kaplan-Meier survival curves and log-rank test were conducted to evaluate the effect of variables on the prognosis. Cox hazard regression was conducted to identify the independent prognostic factors. The male-to-female ratio in most pathological subtypes was close to 1:1. The most common pathological subtype was diffuse large B-cell lymphoma. The most commonly involved sites outside the lymph nodes were salivary glands, especially parotid gland, followed by tonsil, thyroid gland and tongue. The prognosis of mature T- and NK-cell non-Hodgkin lymphoma (NHL) was bleaker than Hodgkin lymphoma, mature B-cell NHL and plasma cell neoplasm. Age at diagnosis, presence of second primary malignancy (SPM), pathological subtype, Ann-Arbor stage, chemotherapy and radiation were independent prognostic factors of overall survival. Our study comprehensively reported the subtype distribution, anatomical sites and survival outcomes of PHNHLN among older patients, improving understanding of this rare group of cancer entities.

Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China.

Importance: Early identification and intervention for newborns with hearing loss (HL) may lead to improved physiological and social-emotional outcomes. The current newborn hearing screening is generally beneficial but improvements can be made. Objective: To assess feasibility and evaluate utility of a modified genetic and hearing screening program for newborn infants. Design, Setting, and Participants: This population-based cohort study used a 4-stage genetic and hearing screening program at 6 local hospitals in Nantong city, China. Participants were newborn infants born between January 2016 and June 2020 from the Han population. Statistical analysis was performed from April 1 to May 1, 2021. Exposures: Limited genetic screening for 15 variants in 4 common HL-associated genes and newborn hearing screening (NHS) were offered concurrently to all newborns. Hearing rescreening and/or diagnostic tests were provided for infants with evidence of HL on NHS or genetic variants on screening. Expanded genetic tests for a broader range of genes were targeted to infants with HL with negative results of limited genetic tests. Main Outcomes and Measures: The detection capability for infants with hearing impairment who passed conventional hearing screening, as well as infants with normal hearing at risk of late-onset HL due to genetic susceptibility. Results: Among a total of 35 930 infants, 32 512 infants completed the follow-up and were included for analysis. Among the infants included in the analysis, all were from the Han population in China and 52.3% (16 988) were male. The modified genetic and hearing screening program revealed 142 cases of HL and 1299 cases of genetic variation. The limited genetic screening helped identify 31 infants who passed newborn hearing screening, reducing time for diagnosis and intervention; 425 infants with normal hearing with pathogenic SLC26A4 variation and 92 infants with MT-RNR1 variation were at risk for enlarged vestibular aqueduct and aminoglycoside-induced ototoxicity respectively, indicating early aversive or preventive management. Conclusions and Relevance: This study found that performing modified genetic and hearing screening in newborns was feasible and provides evidence that the program could identify additional subgroups of infants who need early intervention. These findings suggest an advantage for universal adoption of such a practice.

Parameter estimation of the incubation period of COVID-19 based on the doubly interval-censored data model.

With the spread of the novel coronavirus disease 2019 (COVID-19) around the world, the estimation of the incubation period of COVID-19 has become a hot issue. Based on the doubly interval-censored data model, we assume that the incubation period follows lognormal and Gamma distribution, and estimate the parameters of the incubation period of COVID-19 by adopting the maximum likelihood estimation, expectation maximization algorithm and a newly proposed algorithm (expectation mostly conditional maximization algorithm, referred as ECIMM). The main innovation of this paper lies in two aspects: Firstly, we regard the sample data of the incubation period as the doubly interval-censored data without unnecessary data simplification to improve the accuracy and credibility of the results; secondly, our new ECIMM algorithm enjoys better convergence and universality compared with others. With the framework of this paper, we conclude that 14-day quarantine period can largely interrupt the transmission of COVID-19, however, people who need specially monitoring should be isolated for about 20 days for the sake of safety. The results provide some suggestions for the prevention and control of COVID-19. The newly proposed ECIMM algorithm can also be used to deal with the doubly interval-censored data model appearing in various fields.

Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.

Hereditary hearing loss is one of the most common sensory disabilities worldwide. Mutation of POU domain class 4 transcription factor 3 (POU4F3) is considered the pathogenic cause of autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as autosomal dominant nonsyndromic deafness 15. In this study, four novel variants in POU4F3, c.696G>T (p.Glu232Asp), c.325C>T (p.His109Tyr), c.635T>C (p.Leu212Pro), and c.183delG (p.Ala62Argfs∗22), were identified in four different Chinese families with ADNSHL by targeted next-generation sequencing and Sanger sequencing. Based on the American College of Medical Genetics and Genomics guidelines, c.183delG (p.Ala62Argfs∗22) is classified as a pathogenic variant, c.696G>T (p.Glu232Asp) and c.635T>C (p.Leu212Pro) are classified as likely pathogenic variants, and c.325C>T (p.His109Tyr) is classified as a variant of uncertain significance. Based on previous reports and the results of this study, we speculated that POU4F3 pathogenic variants are significant contributors to ADNSHL in the East Asian population. Therefore, screening of POU4F3 should be a routine examination for the diagnosis of hereditary hearing loss.

Clinical significance of neutrophil-lymphocyte ratio and monocyte-lymphocyte ratio in women with hyperglycemia.

Objective: Abnormal pro-inflammatory regulation of the immune system might contribute to the pathogenesis of hyperglycemia during pregnancy. We examined the correlations of neutrophil-lymphocyte ratio (NLR) and monocyte-lymphocyte ratio (MLR) with disease severity and assessed their predictive values. Methods: This retrospective case-control study included 311 cases of hyperglycemia first detected during pregnancy (HFDP) [153 with gestational diabetes mellitus (GDM) and 158 with diabetes in pregnancy (DIP)] and, as a control group, 172 pregnant women with normal glucose tolerance. The NLRs and MLRs were calculated from the blood test data. Results: The absolute leukocyte, neutrophil, monocyte, and lymphocyte counts as well as the NLR and MLR values of HFDP patients significantly differed from control values, but no significant differences were detected in the leukocyte, neutrophil, and monocyte counts of the GDM and DIP groups. Significantly different metrics were selected, binary analysis performed, and odds ratios calculated to identify risk factors. Age, BMI, NLR, and MLR were found to be risk factors for HFDP, and high systolic blood pressure (SBP) at triage and MLR related to the occurrence of DIP. Receiver operating characteristics curve analysis showed that NLR and MLR had better diagnostic accuracy in distinguishing HFDP from controls [NLR area under the curve (AUC) = 0.78; MLR AUC = 0.72] than age and BMI. Values for NLR > 4.394 or MLR > 0.309 correlated with the severity of maternal clinical symptoms and perinatal infant outcomes. MLR was the best predictor of DIP (AUC = 0.72) and MLR values > 0.299 could identify patients at risk for developing DIP and having poor fetal outcomes. Conclusion: Metrics derived from peripheral blood neutrophil, monocyte, and lymphocyte counts are thought to reflect systemic immune-inflammation. Elevated MLR and NLR may be unfavorable prognostic factors for clinical outcomes in patients with hyperglycemia during pregnancy.

Assessment efficacy of neutrophil-lymphocyte ratio and monocyte-lymphocyte ratio in preeclampsia.

OBJECTIVE: Abnormal changes in immune-mediated inflammation contribute to the pathogenesis of preeclampsia (PE). We aim to investigate the value of systemic immune inflammation indices-neutrophil-lymphocyte ratio (NLR) and monocyte-lymphocyte ratio (MLR)-to identify and evaluate the prognosis of patients with PE. METHODS: This study reviewed clinical records of 367 PE patients (162 with mild PE and 205 with severe PE), in addition to a control group of 172 normal pregnancies. Blood cell counts were performed at the first diagnosis of PE, and NLR and MLR were calculated by absolute cell count. RESULTS: Absolute neutrophil, lymphocyte, and monocyte counts and NLR and MLR values in PE were significantly different from controls, although monocyte counts did not significantly differ between mild and severe PE. Receiver operating characteristics curve (ROC) analysis showed NLR and MLR had better diagnostic accuracy in distinguishing PE from controls [NLR area under the curve (AUC) = 0.70; MLR AUC = 0.78]. Further, NLR was the best predictor of disease severity (AUC = 0.71). Cutoff values of NLR > 4.198 or MLR > 0.325 for control and PE groups or a cutoff value of NLR > 4.182 for PE groups indicated that patients were more likely to encounter preterm delivery, have shorter admission-to-delivery interval, and develop maternal and neonatal complications. CONCLUSION: Secondary analyses of white blood cell differential count parameters effectively evaluate the systemic inflammatory/immune state. Compared with absolute cell counts, NLR and MLR offer more effective indicators of clinical assessment, disease severity evaluation, and prognosis evaluation of PE.

Design and application of pulse information acquisition and analysis system with dynamic recognition in traditional Chinese medicine.

BACKGROUND: To design the pulse information which includes the parameter of pulse-position, pulse-number, pulse-shape and pulse-force acquisition and analysis system with function of dynamic recognition, and research the digitalization and visualization of some common cardiovascular mechanism of single pulse. METHODS: To use some flexible sensors to catch the radial artery pressure pulse wave and utilize the high frequency B mode ultrasound scanning technology to synchronously obtain the information of radial extension and axial movement, by the way of dynamic images, then the gathered information was analyzed and processed together with ECG. Finally, the pulse information acquisition and analysis system was established which has the features of visualization and dynamic recognition, and it was applied to serve for ten healthy adults. RESULTS: The new system overcome the disadvantage of one-dimensional pulse information acquisition and process method which was common used in current research area of pulse diagnosis in traditional Chinese Medicine, initiated a new way of pulse diagnosis which has the new features of dynamic recognition, two-dimensional information acquisition, multiplex signals combination and deep data mining. CONCLUSIONS: The newly developed system could translate the pulse signals into digital, visual and measurable motion information of vessel.

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.

BACKGROUND: Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations. SLC26A4 c.919-2A>G (IVS7-2A>G) is the most common mutation in East Asian deaf populations. To provide a basis for improving the clinical diagnosis of deaf patients, we evaluated 80 patients with the SLC26A4 c.919-2A>G monoallelic mutation from 1065 hearing-impaired subjects and reported the occurrence of a second mutant allele in these patients. METHODS: The occurrence of a second mutant allele in these 80 patients with a single c.919-2A>G mutation was investigated. Mutation screening was performed by bidirectional sequencing in SLC26A4 exons 2 to 6 and 9 to 21. RESULTS: We found that 47/80 patients carried another SLC26A4 c.919-2A>G compound mutation. The five most common mutations were: p.H723R, p.T410M, 15+5G>A (c.1705+5G>A), p.L676Q and p.N392Y. We found a Chinese-specific SLC26A4 mutation spectrum and an associated SLC26A4 contribution to deafness. CONCLUSION: Our study illustrates that mutation analysis of other SLC26A4 exons should be undertaken in deaf patients with a single heterozygous SLC26A4 mutation. Moreover, a model of compound heterozygosity may partially explain the disease phenotype.

[Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene].

OBJECTIVE: To investigate the whole sequence of the SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A to G mutation of the gene in China. METHODS: Whole SLC26A4 gene sequence was analyzed by direct sequencing in 80 SLC26A4 gene IVS7-2A to G mutation carriers for the occurrence of a second mutation in the gene. RESULTS: Forty-seven out of the 80 patients were found to have a second heterozygous mutation, whereas a single IVS7-2A to G mutation could be responsible for SNHL in the remaining 33 patients. Three novel mutations, 5+ 2T to A, 14-2A to G and 1825del G, were identified. The five most common mutations include H723R (20%), T410M(5%), C.1705+ 5G to A (15+ 5G to A)(5%), L676Q(5%), and N392Y (3.75%). Exon 17 harbored the most types of compound heterozygosity with the IVS7-2A to G mutation. CONCLUSION: A Chinese specific SLC26A4 diversity was found, and comparable SLC26A4 contributing to deafness. This study suggested that if a heterozygous SLC26A4 mutation is found in a patient with deafness, other exons of the SLC26A4 gene should be analyzed. Furthermore, double heterozygosity of the SLC26A4 gene may also account for some of the disease phenotype.

[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China].

OBJECTIVE: To investigate the whole sequence of SLC26A4 gene among 1552 deaf students from 21 regions of China with SLC26A4 hot spot mutation IVS7-2A > G and analyze the epidemiological state of enlarged-vestibular-aqueduct-syndrome (EVAS) related hearing loss in China. METHODS: DNA was extracted from peripheral blood of 1552 students from deaf and dumb school of 21 regions in China. The nationality of the 1552 cases covers Han (1290 cases), Uigur (69 cases), Hui (37 cases), Mongolia (31 cases), Yi, Zhuang, Bai, Miao and other 13 nationalities (125 cases). Firstly, all subjects were analyzed for the hot spot mutation IVS7-2A > G by direct sequencing. Those carrying a single heterozygous IVS7-2A > G were given further analyzed for the probable second mutation in other exons except exon7 and exon8 of SLC26A4. One hundred and fifty cases with normal hearing were in the control group. RESULTS: The sequencing results revealed 197 cases carrying IVS7-2A > G, of whom 83 carrying IVS7-2A > G homozygous mutation, 114 carrying IVS7-2A > G heterozygous mutation. Of the 114 cases with heterozygous IVS7-2A > G, 78 cases were found to have another mutation and 36 cases were found no other mutation in SLC26A4. Of the 1552 cases, the percentage of cases carrying homozygous IVS7-2A > G and compound heterozygous mutations was 10.37% (161/1552). Of the 78 cases with SLC26A4 compound heterozygous mutations, the mutations except IVS7-2A > G were found mainly in exon 19, 10, 17, 15, 11 + 12, 14 and 3. Twenty-one novel SLC26A4 mutations were found. In the control group, there were only 3 cases carrying heterozygous IVS7-2A > G, and no other mutation in SLC26A4 was found. CONCLUSIONS: SLC26A4 mutations account for at least 10% of EVAS related hereditary hearing loss in China. It's of great importance to screen SLC26A4 gene for making aetiological diagnosis for deafness. The discovery of novel variants of SLC26A4 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population. We also provide preliminary evidence for the hot spot areas of SLC26A4.

[Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China].

OBJECTIVE: To investigate the hot spot mutation of SLC26A4 gene and its incidence among patients with moderate to profound sensorineural hearing loss (SNHL) and to analyze the epidemiology of enlarged vestibular aqueduct syndrome in China. METHODS: Peripheral blood samples were collected from 1,552 students of deaf and dumb school in 21 cities throughout China. The nationality distribution of the 1,552 students included Han (n = 1290), Uigur (n = 69), Hui (n = 37), Mongolian (n = 31), and Southwest minorities including Yi, Zhuang, Bai, Miao and other 14 nationalities (n = 125). The hot spot mutation IVS7-2A > G and other mutations in the SLC26A4 exons 7 and 8 with intron 7 were analyzed by direct sequencing. RESULTS: Mutation in the SLC26A4 exons 7 and 8 or intron 7 were found in 199 students, of whom 83 carried IVS7-2A > G homozygous mutation, 114 carried IVS7-2A > G heterozygous mutation, and the other two carried two other kinds of mutation. Of the 1,552 cases, the percentage of cases carrying IVS7-2A > G mutation was 12.7% (197/1,552), and this percentage reached up to 14.3% in 1,290 cases of Han nationality, while in the 69 cases of Uigur nationality this ratio was 0. The prevalence rates of IVS7-2A > G mutation in Zhuozhou and Gaobeidian, Hebei province, and Anyang, Henan province, were 24.7% and 28.3% respectively, both significantly higher than the percentages of the whole China and other regions (all P < 0.05). CONCLUSION: Hereditary SNHL caused by SLC26A4 mutations accounts for a high percentage in China. It is of great importance to screen SLC26A4 gene for making etiological diagnosis for deafness. Screening of the hot spot mutation of IVS7-2A > G is of advantage for large scale screening among patients with deafness.

[Genetic counseling and instruction for deaf couples directed by genetic testing].

OBJECTIVE: To analyze the molecular pathogenesis of deaf couples by means of genetic testing. To provide accurate genetic counseling and instruction for deaf couples with different etiology based upon results of genetic testing. METHODS: Four deaf families from July 2005 to May 2006. Each subject was with moderate to profound hearing loss. Genomic and mitochondrial DNA (mtDNA) of each subject were extracted from whole blood. Genetic testing of GJB2, SLC26A4 (PDS) and mtDNA A1555G mutation were offered to each individuals. RESULTS: The husband from family 1 didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation while his wife was confirmed to carry compound SLC26A4 mutations. The possibility of their offspring's to be SLC26A4 single mutation carrier was 100%. The couple from family 2 both didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation. The possibility of their offspring's having hereditary deafness caused by GJB2, SLC26A4 and mtDNA A1555G mutation was excluded. The husband from family 3 was confirmed to carry homozygous GJB2 mutations and a single SLC26A4 mutation while his wife who was diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan was proven to carry a single SLC26A4 mutation. The risk of their offspring's suffering EVAS was 50%. The husband from family 4 was mtDNA A1555G positive while his wife who was diagnosed with cochlear malformation by CT scan didn't carry GJB2, SLC26A4 and mtDNA A1555G mutation. The risk of their offspring's having hereditary deafness caused by GJB2, SLC26A4 and mtDNA A1555G mutation was excluded. CONCLUSIONS: Genetic testing could be applied to offer the more accurate genetic counseling and instruction to deaf couples.

[Frequency of SLC26A4 IVS7-2A > G mutation in patients with severe to profound hearing loss from different area and ethnic group in China].

OBJECTIVE: To carry out molecular epidemiology study of SLC26A4 IVS7-2 A > G mutation in large Chinese deaf population and to provide evidence for fast screening and gene diagnosis of enlarged vestibular aqueduct syndrome (EVAS). METHODS: A total of 1979 patients with non-syndromic hearing loss(NSHL) underwent questionnaire and PCR for IVSA > G mutation detection of SLC26A4 gene. RESULTS: All 245 patients (12.38%) with homozygotes and heterozygotes IVS7-2 A > G mutation were found among the 1979 NSHL It showed statistically significant difference among north and northeast, northwest, east and southeast, southwest and central area in China. (chi2 = 34.4899, P < 0.05). Carrier frequency of the central area (27.52%) was notably higher than southwest area (6.69%). The IVS7-2 A > G mutation was most frequently found in Han deaf groups (13.88%). Tibetan, Hui, and other western minorities were lower than Han deaf population (chi2 = 35.4456, P < 0.05). CONCLUSIONS: A high SLC26A4 IVS7-2 A > G mutation frequency for deafness in Chinese patients was found. Detection of the pathogenic mutations was bringing the possibility to detect EVAS at an early stage. Moreover, it might help to establish diverse diagnostic strategies toward differently ethical deaf population in different region of China.

[Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China].

OBJECTIVE: To investigate the prevalence of GJB2 mutations in Uigur and Han ethnic groups in Xinjiang Uigur Autonomous Region, China and to understand the mutation spectrum and frequency of the GJB2 gene in these 2 ethnic groups. METHODS: Questionnaire survey was conducted among 61 Uigur deaf-mute students, 60 Han deaf-mute students, and 98 normal Uigurs and 301 normal Han people as controls. Peripheral blood samples were collected to undergo PCR and sequencing of GJB2 gene. RESULTS: The GJB2 mutation rate of the Uigur deaf-mute students was 19.7%, not significantly different from that of the Han deaf-mute students (17.2%). GJB2 35delG was found only in the Uigur deaf-mutes with a carrier rate of 11.5%, whereas 235delC was identified in both Uigur and Han deaf-mutes. The allelic frequency of 35delG mutation in the Uigur and Han deaf-mutes and the Uigur controls were 7.4% (9/122), 0 (0/128), and 0 (0/196) respectively. The allelic frequencies of the GJB2 235delC mutations in the Uigur and Han deaf-mute students were 5.7% and 9.8%, and the allelic frequencies of 299 - 300delAT were 0.8% and 5.5%. V27I and E114G were the most frequent types of polymorphism. CONCLUSION: There is a rather high mutation rate of GJB2 gene in Xinjiang. The carrier frequency of 35delG of the Uigurs is significantly higher than that of the Han population. 235delC is common in both Uigur and Han people.

[Mutation of GJB2 gene in nonsyndromic hearing impairment patients: analysis of 1190 cases].

OBJECTIVE: To analyze the sequence of GJB2 gene in nonsyndromic hearing impairment (NSHI) patients in China. METHODS: Peripheral blood samples were obtained from 1190 NSHI patients randomly selected from the Deaf and Mute Schools of Beijing, Hebei, Heilongjiang, Jilin, Inner Mongolia, Shanxi, Henan, Hubei, Shaanxi, Gansu, Ningxia, Qinghai, Anhui, Jiangsu, Shanghai, Fujian, Guangdong, and Guangxi, and 301 children with normal hearing level used as controls. Genomic DNA was extracted by extraction kits to undergo polymerase chain reaction and sequencing so as to detect the mutations of GJB2 gene. RESULTS: Sixteen pathogenic mutations of GJB2 gene were found, the most common of which included 235delC, 299-300delAT, and 176del16bp. 250 patients (21.05%) carried definite GJB2 mutations, 245 of which (98%) carried at least one of these 3 common mutations. 222 of the 250 patients (88.80%) carried the mutation 235delC with a detection rate of 18.66%. 62 of the 250 patients (24.80%) carried the mutation 299-300delAT with a detection rate of 5.21%. 19 of the 250 patients (7.60%) carried the mutation 176del16bp with a detection rate of 1.60%. The detection rates of these 3 mutations in the NSHI patients were all significantly higher than those among the controls (all P<0.01). CONCLUSION: The hot spot of GJB2 gene mutations in Chinese NSHI patients is 235delC, followed by 299-300delAT and 176del16bp. These results establish a fundamental basis for drawing a spectrum of GJB2 gene mutation among Chinese population.

[Patients suffered from enlarged vestibular aqueduct syndrome in Chifeng deaf and dumb school detected by Pendred's syndrome gene hot spot mutation screening].

OBJECTIVE: To investigate the incidence of hot spot mutation of PDS gene by genetic screening testing method in Chifeng City, Inner Mongolia. The feasibility and effectiveness of genetic screening method in finding enlarged vestibular aqueduct syndrome were confirmed by temporal bone CT scan. METHODS: DNA were extracted from peripheral blood of 141 students of Chifeng Deaf and Dumb school. PDS IVS7-2 A-G mutation, the most common PDS mutation in Chinese population, was analyzed by direct sequencing for PDS exon 7, exon 8 with intron 7. The individuals found with homozygous or heterozygous PDS IVS7-2 A-G mutation were given further temporal CT scan, ultrasound scan of thyroid and thyroid hormone assays. The results of PDS genetic screening and temporal bone CT scan were compared with each other. RESULTS: The sequencing results revealed twenty cases carrying PDS IVS7-2 A-G mutation, of whom nine cases were homozygous mutation and eleven cases were heterozygous mutation. Eighteen cases underwent temporal bone CT scan except two cases that left the school due to other health problem. Sixteen cases were confirmed to be enlarged vestibular aqueduct syndrome (EVAS) by CT scan and the shape and function of thyroid were clinically normal by ultrasound scan of thyroid and thyroid hormone assays, respectively. CONCLUSIONS: The patients suffered from EVAS can be diagnosed by the screening for the PDS hot spot mutation which has unique advantage in epidemiologic study in large scale deaf population. The preliminary data of this study suggested relatively high incidence of EVAS in Chifeng area.

[Preliminary study on the functional localization of auditory cortex in auditory pathology patients using magnetoencephalography].

OBJECTIVE: To access the pathological changes of the functional localization of the primary auditory cortex in auditory neuropathy patients using magnetoencephalography (MEG). METHODS: The M100 waves of cortical evoked magnetic fields (AEF) evoked by 0.5, 1, 2, 4, 6, 8 kHz pure tones were measured respectively in 10 auditory neuropathy patients (20 ears) and 15 healthy young subjects (30 ears) using a whole head 306 channel magnetoencephalography (MEG) system. The auditory cortex magnetic source imaging obtained by superimposing functional MEG data on structural magnetic resonance image (MRI). RESULTS: The M100 sources were obtained in all 15 healthy young subjects in all frequency except for 8 kHz in 16 ears. But in auditory neuropathy patients, the ratio of M100 from 0.5 to 6 kHz were 27.5% (11/40), 22.5% (9/40), 7.5% (3/40), 5% (2/40), 5% (2/40) respectively and no any waves in 8 kHz. The evoked ratio of M100 in low frequency was high and that decreased gradually with increasing of evoked pure tone frequency. The M100 latentencies and amplitudes were longer and lower in patient group than that in control group (P < 0.01). CONCLUSIONS: Auditory neuropathy is an audiology disease with pathological lesions from the VIII cranial nerve to auditory cortex. MEG might become an important reference in decision making for therapies.