[This corrects the article DOI: 10.1016/j.apsb.2019.01.013.].

Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Objective:To investigate the association between hyperuricemia and the risk for stroke occurrence, as well as the mediating effect of hypertension on this association.Methods:In this study, the China Chronic Diseases and Nutrition Surveillance system in 2015 was used as baseline data. We identified hospital admissions for stroke using the electronic homepage of inpatient medical records from 2013-2020, and death data were obtained from the 2015-2020 National Mortality Surveillance System. A retrospective cohort was established after matching and linking the database. The Cox proportional hazard regression model was used to analyze the relationship between hyperuricemia and the risk of stroke and its subtypes. Restricted cubic spline analysis was conducted to examine the dose-response relationship between serum uric acid levels and the risk for stroke. Mediation analysis was performed to investigate the mediating effect of hypertension on the association between hyperuricemia and the risk for stroke and its subtypes. Subgroup analyses were conducted based on gender and age groups.Results:A total of 124 352 study subjects were included, with an accumulative follow-up time of 612 911.36 person-years. During the follow-up period, 4 638 cases of stroke were found, including 3 919 cases of ischemic stroke and 689 cases of hemorrhagic stroke. The incidence density of stroke was 756.72 per 100 000 person-years, 641.37 per 100 000 person-years for ischemic stroke, and 114.60 per 100 000 person-years for hemorrhagic stroke. Multivariable Cox proportional hazards regression models showed that after adjusting for covariates, compared to those without hyperuricemia, individuals with hyperuricemia had a 16% higher risk for stroke [hazard ratio ( HR)=1.16, 95% CI: 1.06-1.27], a 12% higher risk of ischemic stroke ( HR=1.12, 95% CI: 1.01-1.24), and a 39% higher risk of hemorrhagic stroke ( HR=1.39, 95% CI: 1.11-1.75). Mediation analysis showed that hypertension partially mediated the associations between hyperuricemia and the risk for stroke, ischemic stroke, and hemorrhagic stroke, with mediation proportions of 36.07%, 39.98%, and 25.34%, respectively. The mediating effect is pronounced in the male population and individuals below 65. Conclusion:Hyperuricemia is a risk factor for stroke, and hypertension partially mediates the effect of hyperuricemia on stroke.

Objective The characteristics of supramolecular"imprinting template"of volatile oil of Curcuma kwangsiensis and Curcuma phaeocaulis were analyzed and studied based on the supramolecular"qixi"theory of Chinese materia medica combined with chemometrics.Methods The volatile oil of C.kwangsiensis and C.phaeocaulis were extracted by steam distillation,and the fingerprint and composition information of each batch were obtained by GC-MS.Total statistical moment method was used to compare the imprinting characteristics of the"imprinting template"of C.kwangsiensis and C.phaeocaulis.The core index(CI)of each batch of essential oil of C.kwangsiensis and C.phaeocaulis was calculated,and the topological characteristics of types of"imprinting template"of C.kwangsiensis and C.phaeocaulis were compared by chemometrics.Results There was no significant difference in the extraction rate of volatile oil between C.kwangsiensis and C.phaeocaulis.The average values of total zero order moment(AUCT)were(1.907±0.177)×108,(1.979±0.413)×108 μV·s,respectively,showing that there was no significant difference in the total content of volatile oil between the two groups.The mean values of the total first order moment(MCRTT)were(30.969±0.962)and(33.198±0.409)min.The average value of total second order moment(VCRTT)was(56.176±11.368)and(43.891±4.113)min2,respectively,indicating that there were significant differences in the content ratio and species of volatile oils between the two groups.The similarity of total statistical moments of C.kwangsiensis and C.phaeocaulis was mostly lower than the defined value,indicating that the chemical composition and composition ratio of the volatile oil were different.Principal component analysis and orthogonal partial least squares discriminant analysis could obviously divide C.kwangsiensis and C.phaeocaulis into two categories.Through the analysis of P value and VIP value,the CI values of Xvp 4th order,Xvpc 5th order,Xvpc 6th order,Xvpc 7th order,Xvc 3rd order,Xvpc 4th order were the main difference values of C.kwangsiensis and C.phaeocaulis.Conclusion Through the characterization of"imprinting property"and"topological characteristics"of the supramolecular"imprinting template"and combining with chemometric analysis,it is possible to successfully distinguish C.kwangsiensis and C.phaeocaulis,and find the different CI values between two"imprinting templates".

Objective:To explore the curative effects of foot microflap free transplantation in the repair of full-thickness electric burn wounds deep to tendon or even bone in fingers.Methods:A retrospective observational study was conducted. From July 2017 to February 2022, 20 patients with full-thickness electric burn wounds deep to tendon or even bone in fingers who met the inclusion criteria were admitted to Zhengzhou First People's Hospital, including 19 males and 1 female, aged 18 to 64 years. Among the 20 wounds, 15 wounds were located on the palm side, including 8 on the thumb, 5 on the index finger, and 2 on the middle finger; 5 wounds were located on the back, including 1 on the index finger and 4 on the middle finger. After debridement, the wound area ranged from 4.5 cm×2.0 cm to 7.0 cm×3.0 cm. According to the principle of tissue structure similarity, 10 wounds were repaired with plantar medial flaps, 5 wounds were repaired with hallux peroneal flaps, and 5 wounds were repaired with dorsalis pedis artery flaps, with flap area of 5.0 cm×2.5 cm-8.0 cm×3.5 cm. The flaps were transplanted freely and arteries and veins and/or nerves were anastomosed at the same time. The wound in the donor site was repaired with thigh medium-thick skin graft. The survival of flaps and skin grafts were observed after surgery. The appearance of flap, temperature and color of the distal end in the affected finger were observed during follow-up. At the last follow-up, the joint function and flap sensory recovery of the affected finger were evaluated with the trial standard for the evaluation of the functions of the upper limbs of the Hand Surgery Society of the Chinese Medical Association; the two-point discrimination distance of skin in the area of flaps with nerve anastomosis was measured; the satisfaction of patients with the curative effect was investigated by using the curative effect satisfaction rating scale, and the very satisfied rate was calculated; the repair effect of flap was evaluated by the comprehensive evaluation scale, and the excellent and good rate was calculated.Results:All the flaps and skin grafts survived after surgery. During the follow-up of 10-18 months after surgery, the appearance of flap was natural and not bloated; the temperature and color of the distal end in the affected finger were basically the same as that of normal finger skin. At the last follow-up, the function recovery of the affected finger joints was as follows: 11 affected fingers were within the normal range of motion, 6 affected fingers had their total active range of motion recovered to 85% of the healthy side, and 3 affected fingers had their total active range of motion recovered to 75% of the healthy side; the flap sensory recovery was as follows: the sense of 15 flaps with nerve anastomosis all recovered to grade S3 +, and the two-point discrimination distance of skin in the flap area was 7.0-9.0 mm; the sense of 1 flap without nerve anastomosis recovered to grade S2 and the sense of 4 flaps recovered to grade S1. The satisfaction with curative effect of 20 patients was very satisfied in 16 cases and moderately satisfied in 4 cases, with the very satisfied rate of 80%; the repair result of 20 flaps was excellent in 16 cases, good in 2 cases, and fair in 2 cases, with excellent and good rate of 90%. Conclusions:Due to the similar tissue structure of donor site and recipient site, foot microflap free transplantation in the repair of full-thickness electric burn wounds deep to tendon or even bone in fingers can achieve good appearance and function, with better functional and sensory recovery of the affected finger in the case of nerve anastomosis. Patients have high degree of satisfaction with the curative effects, which is worthy of promotion.

Female ; Humans ; Pregnancy ; Septate Uterus ; Uterus/surgery* ; Hysteroscopy/methods* ; Estrogens ; Tissue Adhesions/surgery* ; Randomized Controlled Trials as Topic ; Multicenter Studies as Topic

Necrotizing otitis externa is a progressive infectious disease involving the external auditory canal and even the skull base, which can lead to serious complications and even death if not treated in time. In this paper, the latest advances in etiology, pathogenesis, clinical manifestations, diagnosis and treatment were reviewed based on previous literature, providing reference for clinical diagnosis, treatment and future research.
Humans ; Otitis Externa/therapy* ; Skull Base/pathology* ; Ear Canal/pathology* ; Head

Objective To investigate the diagnostic value of cervical vagus nerve cross-sectional area(CAS)for Parkinson's disease(PD).Methods Thirty patients with PD admitted to the People's Hospital of Zhengzhou University from October 2019 to October 2022 were selected as PD group,25 patients with multiple system atrophy(MSA)admitted to the People's Hospital of Zhengzhou University during the same period were selected as the MSA group,and 30 healthy individuals who underwent physical examination in the People's Hospital of Zhengzhou University during the same period were selected as healthy control group.Cervical vagus CAS of subjects in the three groups were measured by high-resolution ultrasound,and the difference of CAS of cervical vagus nerve was compared among the three groups.The degree of impairment of autonomic nervous function of subjects in the three groups was evaluated by PD autonomic symptom scale(SCOPA-AUT).The diagnostic value of cervical vagus nerve CAS for PD was analyzed by receiver operating characteristic(ROC)curve.Results The CAS of the right cervical vagus nerve of subjects was significantly larger than that of the left in the healthy control group and PD group(P＜0.05);there was no significant difference in CAS of bilateral cervical vagus nerve of subjects in the MSA group(P＞0.05).The CAS and average CAS of bilateral cervical vagus nerve of subjects in the PD group and MSA group were significantly lower than those in the healthy control group(P＜0.01).The CAS of the right vagus nerve of subjects in the MSA group was significantly lower than that in the PD group(P＜0.05);there was no significant difference in CAS and the average CAS of the left vagus nerve between the MSA group and the PD group(P＞0.05).The total score of SCOPA-AUT and gastrointestinal(GI),cardiovascular(CV),urinary(UR)and sexual(SX)scores of subjects in the PD group and MSA group were significantly higher than those in the healthy control group(P＜0.01).The total score of SCOPA-AUT and UR,SX scores of subjects in the MSA group were significantly higher than those in the PD group(P＜0.05).There was no significant difference in temperature(TH)and pupil(PU)of subjects among the three groups(P＞0.05).Pearson correlation analysis showed that the CAS of cervical vagus nerve of PD patients was not correlated with the total score of SCOPA-AUT and the UR,TH,PU,SX scores(r=-0.143,0.281,0.297,0.265,0.312;P＞0.05).The CAS of cervical vagus nerve of PD patients was negatively correlated with GI and CV scores(r=-0.683,-0.373;P＜0.05).ROC curve analysis showed that the area under the curve of cervical vagus nerve for diagnosing PD was 0.870(95％confidence interval:0.773-0.966,P＜0.05);the critical value was 3.064 mm2,the sensitivity was 96％,and the specificity was 67％.The area under the curve of CAS of cervical vagus nerve in differential diagnosis of PD,MSA was 0.680(95％confidence interval:0.537-0.823,P＜0.05).The sensitivity and specificity for the diagnosis of MSA were 68％and 70％when the CAS of the cervical vagus nerve＜2.709 mm2.Conclusion The CAS of cervical vagal nerve has high clinical diagnostic value for PD,and it provides a new way to improve the diagnosis rate of PD.

Objective:To understand the prevalence of insufficient physical activity among adults aged ≥18 years in China and to explore the influencing factors.Methods:The China Chronic Disease and Risk Factor Surveillance was conducted in 298 counties/districts in China in 2018, covering 31 provinces (autonomous regions, municipalities). A multi-stage stratified cluster random sampling method was used to select permanent residents aged ≥18 years. A questionnaire including Global Physical Activity Questionnaire was used to collect information about the participants' demographic characteristics and physical activity through face-to-face interview. A total of 183 769 participants completed the survey. After complex data weighting, the prevalence of insufficient physical activity, occupation, transportation, and leisure-time physical activity time was analyzed. Multivariate logistic regression models were used to analyze the influencing factors related to insufficient physical activity.Results:The prevalence of insufficient physical activity among adults aged ≥18 years was 22.3% (95% CI: 20.9%-23.7%) in China in 2018, with males [24.4% (95% CI: 23.0%-25.8%)] significantly higher than females [20.2% (95% CI: 18.6%-21.8%)]. Adults aged 70 years and above [28.4% (95% CI: 26.9%-29.9%)] were significantly higher than adults in other age groups, followed by adults aged 18-29 years [26.4% (95% CI: 24.4%- 28.3%)] and 30-39 years [23.4% (95% CI: 21.5%-25.3%)], and tended to increase with increasing education and total sedentary behavior time ( P<0.001). The weekly occupation, transportation, and leisure-time physical activity time appeared 958.6 (95% CI: 911.4-1 005.8) minutes, 234.5 (95% CI: 224.7- 244.2) minutes, and 88.6 (95% CI: 83.5-93.7) minutes, respectively. Multivariate logistic regression analysis showed that males, adults living in rural areas or northern China, ≥70 years, with junior high school education, an annual household income per capita <6 000 yuan and institutional/clerical/ technical occupation and longer total sedentary behavior time were related to a higher prevalence of insufficient physical activity. Conclusions:In China, over one-fifth of the adults had lower physical activity levels. Adults who are male, young adults, more educated, institutional/clerical/technical occupation, and with more extended total sedentary behavior are the populations that need to be focused on to promote physical activity-related health.