Analysis of Combined Results of Deafness Gene and Hearing Screening in 3 023 Newborns from Poor Families in Guyuan,Ningxia / 听力学及言语疾病杂志

Objective To imvestigate the application value of combined newborn deafness genetic and hearing screening in the prevention of deafness in poor families in Ningxia.Methods Heel blood was collected from 3 023 neonates in Guyuan City,and 15 loci of 4 deafness genes were detected by gene chip technology of hereditary deaf-ness.At the meantime,heaning was screened and followed-up in all newborns.Results Among the 3 023 neo-nates,123 were positive for deafness gene screening(4.07％,123/3 023),including 56 cases with GJB2 mutation(1.85％,56/3 023),46 cases with SLC26A4 mutation(1.52％,46/3 023),6 cases with GJB3 mutation(0.20％,6/3 023),14 cases with mtDNA12SrRNA(0.46％,14/3 023).The mutation detection rates of c.235delC and c.IVS7-2A＞G loci were 1.36％(41/3 023)and 0.93％(28/3 023)respectively,which were the main mutation types.A total of 98 cases were found in Hui nationality to carry deafness gene mutation,with a carrying rate of 4.26％(98/2 302).A total of 25 mutations were detected in the Han nationality(3.49％,25/715).The total mu-tation rate of four common deafness mutation genes between Hui and Han was not significantly different(P＞0.05).All 123 newborns with deafness gene mutation passed the hearing screening(100％).The hearing screening passing rate of 690 Han newborns with negative deafness gene screening results was 99.71％(688/690),and the hearing screening passing tate of 2 204 Hui newborns with negative deafness gene screening results was 99.86％(2 201/2 204).There was no significant difference in the failure rate of hearing screening between Hui and Han newborns with positive deafness gene screening(P＞0.05).All 3 023 neonates completed follow-up(100％).Five neonates failed to pass the hearing re-examination,and 3 neonates were diagnosed with hearing loss.The hearing follow-up of 123 neonates with positive deafness gene mutation showed normal hearing and language development.Conclusion GJB2:c.235delC and SLC26A4:c.IVS7-2A＞G are the main pathogenic gene mutations in the neonates of poor and registered households in Guyuan area.The mitochondrial 12SrRNA carrying rate in Han neonates is higher than that in Hui neonates.

Results of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical significance of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province.@*METHODS@#Results of audiological examinations, including transient evoked otoacoustic emission and automatic discriminative auditory brainstem evoked potentials, for 6 723 newborns born in Yuncheng area from January 1, 2021 to December 31, 2021, were retrospectively analyzed. Those who failed one of the tests were considered to have failed the examination. A deafness-related gene testing kit was used to detect 15 hot spot variants of common deafness-associated genes in China including GJB2, SLC26A4, GJB3, and mtDNA12S rRNA. Neonates who had passed the audiological examinations and those who had not were compared using a chi-square test.@*RESULTS@#Among the 6 723 neonates, 363 (5.40%) were found to carry variants. These have included 166 cases (2.47%) with GJB2 gene variants, 136 cases (2.03%) with SLC26A4 gene variants, 26 cases (0.39%) with mitochondrial 12S rRNA gene variants, and 33 cases (0.49%) with GJB3 gene variants. Among the 6 723 neonates, 267 had failed initial hearing screening, among which 244 had accepted a re-examination, for which 14 cases (5.73%) had failed again. This has yielded an approximate prevalence of hearing disorder of 0.21% (14/6 723). Among 230 newborns who had passed the re-examination, 10 (4.34%) were found to have carried a variant. By contrast, 4 out of the 14 neonates (28.57%) who had failed the re-examination had carried a variant, and there was a significant difference between the two groups (P < 0.05).@*CONCLUSION@#Genetic screening can provide an effective supplement to newborn hearing screening, and the combined screening can provide a best model for the prevention of hearing loss, which can enable early detection of deafness risks, targeted prevention measures, and genetic counseling to provide accurate prognosis for the newborns.

Reconstitution of biosynthetic pathway for mushroom-derived cyathane diterpenes in yeast and generation of new "non-natural" analogues

Mushroom-derived cyathane-type diterpenes possess unusual chemical skeleton and diverse bioactivities. To efficiently supply bioactive cyathanes for deep studies and explore their structural diversity,

A review of autism spectrum disorder early screening tools for infants and young children / 中国心理卫生杂志

The development and clinical application of early screening tools for autism spectrum disorder (ASD) has aroused general interest these years.This paper reviews the major early signs and several international common used ASD screening tools which is suitable for infants and young children.Maintaining the reliability and validity,the usage and scoring methods of screening tools are now simplified to meet the clinical needs.The introduction of ASD early screening in children routine care is becoming a new trend.

Autistic Traits,Empathy and Theory of Mind of College Students with Different Level of Prosocial Behaviors / 中山大学学报(医学科学版)

[Objective]To investigate autistic traits(AT)of college students with different levels of pro-social behavior,and their characteristics of empathy and theory of mind(ToM).[Methods]372 college students(91males)were recruited. The Chinese Version of Autism-Spectrum Quotient(AQ-C)and Prosocial Tendencies Measure(PTM)questionnaires were used to assess autistic traits and prosocial behaviors. 49 participants were drawn from the total sample for the next procedure. The Chinese Version of Inter?personal Reactivity Index(IRI-C)and Reading the Mind in the Eyes Test(RMET)were used to assess empathy and theory of mind.[Results]The AQ-C's total(14.8±5.3 vs 13.8±5.3,P=0.031)and Socialness subscale(29.8±6.1 vs 27.6±6.0,P=0.001)scores in the low PTM group were higher than those in high PTM group. The IRI-C's total(46.5±9.9 vs 52.8±8.6,P=0.025)and Perspective Taking subscale(10.3±3.6 vs 12.1±2.4,P=0.049)scores in the low level of prosocial behavior group were lower than those in high lev?el group. Scores of RMET showed no significant difference between the two groups.[Conclusions]Individuals with lower level of pro?social behaviors has higher AT,which may be related to deficits of cognitive empathy. No association between ToM and prosocial be?haviors has been found.

Simultaneous determination of alizarin and rubimaillin in Rubia cordifolia by ultrasound-assisted ionic liquid-reversed phase liquid chromatography / 中国中药杂志

Four kinds of ionic liquids were adopted to analyze the content of rubimaillin and alizarin in Rubia cordifolia roots with ultrasonic-assisted extraction coupled with HPLC. The chromatographic column, Purospher star RP-C18 (4.6 mm x 250 mm, 5 microm), was used. Methanol and 0.4% acetic acid-water as mobile phase with flow rate at 0.85 mL min(-1), gradient elution, detection wavelength at 250 nm, chromatographic column temperature was controlled at room temperature. The result showed that rubimaillin and alizarin had the highest extraction yield when the [ HMIM] PF6methanol solution concentration of 0.6 mol x L(-1) as extraction solvent and the conditions were solid-liquid ratio of 1:80 (g x mL(-1)). Under the optimal extraction conditions, the content of alizarin from 0.01 to 0.04 microg showed a good linearity (r = 0.9999), the average recovery was 97.12%, the content of rubimaillin from 0.41 to 1.35 microg showed a good linearity (r = 0.9999), the average recovery was 98.10%. This experiment adopted environmentally friendly reagent as extraction solvent, the extraction efficiency was improved, and the environmental pollution caused by organic solvent was avoided, the harm of human body aslo was reduced. This method was simple and reliable, its repeatability was also very good, which had an important significance in the study of traditional Chinese medicine active ingredient extraction methods.

Failed fertilization after ICSI: causes and countermeasures / 中华男科学杂志

As a new technique for IVF, ICSI has a high rate of monospermy but cannot prevent all fertilization failures, of which the possible causes are poor oocytes or sperm, abnormal oocyte activation, and ICSI technical problems. Controlled ovarian hyperstimulation during IVF could increase the apoptosis of oocytes and subsequently induce fertilization failure. There are several methods for artificial activation in case of oocyte activation failure. Sperm-induced fertilization failure is mostly due to minute malformation of sperm, for which morphologically selective ICSI is generally employed. However, totally failed fertilization after ICSI remains a real challenge.

Protective effect of Annexin 5 on human sperm membrane and DNA integrity / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the role of Annexin 5 in protecting human sperm membrane and DNA integrity.</p><p><b>METHODS</b>We collected 53 semen samples based on the criteria of sperm density > 20 x 10(6)/ml and motility > 60%, and divided them into an experimental group (2.5 microl 10(-6) mol/L Annexin 5 added to 47.5 microl semen), a negative control group (2.5 microl 1 mol/L Tris-HCl [pH 8.0, 25 degrees C] added to 47.5 microl semen), and a blank control group (2.5 microl 0.01 mol/L PBS [pH 7.4] added to 47.5 microl semen). After 20 minutes of incubation, we evaluated the sperm membrane integrity using the hypoosmotic swelling test and, after another 60 minutes of treatment with H2O2 at 2.5 microl 10.02 mol/L, measured the sperm nuclear DNA integrity by acridine orange fluorescent staining.</p><p><b>RESULTS</b>After 20 minutes of treatment with Annexin 5, the experimental group showed extremely significant difference in the percentage of hypoosmotic swelling sperm ([66.17 +/- 12.02] %) from the blank control ([58.13 +/- 13.08]%, P < 0.01) and the negative control group ([59.94 +/- 11.91]%, P < 0.01), but there was no significant difference between the latter two. Treatment with H2O2 remarkably increased DFI in the experimental group (6.39 +/- 1.07) as compared with the blank control (11.16 +/- 1.16) and the negative control group (10.86 +/- 1.05, P < 0.01), but no significant difference was observed between the latter two.</p><p><b>CONCLUSION</b>Annexin 5 can increase the percentage of hypoosmotic swelling sperm in vitro and protect sperm membrane integrity, and it can also protect sperm DNA from H2O2 damage.</p>