Objective:To investigate the clinical phenotypes, imaging features and pathogenic variants of ANO10 gene related autosomal recessive spinocerebellar ataxia-10 (SCAR10).Methods:A cohort of 30 probands of autosomal recessive cerebellar ataxia pedigrees from China-Japan Friendship Hospital from 2018 to 2020 were collected. Friedreich ataxia and other causes of acquired ataxia were excluded, then probands were detected by whole-exome sequencing (WES), and potential pathogenic variants were confirmed by Sanger sequencing and validated in all family members. Clinical phenotypes and auxiliary examinations of the patients were analyzed in detail.Results:A pedigree of SCAR10 caused by ANO10 gene mutations was identified through WES. The 40-year-old male proband of this pedigree carried compound heterozygous mutations: c.1219-2A>C and c.1163-2A>G of the ANO10 gene, both of which were novel mutations, and Sanger sequencing revealed these two mutations were respectively inherited from his healthy parents. Bioinformatic analysis predicted these two mutations were pathogenic. The proband exhibited progressive unsteady walk, dysarthria, mild cognitive impairment. His plasma total coenzyme Q 10 was decreased (0.76 μg/ml). Brain magnetic resonance imaging showed remarkable cerebellar atrophy. Conclusions:Through WES, a SCAR10 patient caused by novel compound heterozygous mutations of ANO10 gene was identified, which is rare in China. The main clinical manifestation was progressive cerebellar ataxia and cognitive decline, and brain image showed remarkable cerebellar atrophy.

Objective To investigate the etiology and clinical manifestations of patients with suspected pertussis under 2 years old.Methods A total of 90 patients under 2 years old with suspected pertussis were collected prospectively from July 2015 to June 2016.Nasopharyngeal secretions and clinical data were obtained.Bordetella pertussis was detected by polymerase chain reaction (PCR).Patients were classified into pertussis group if the PCR was positive,or pertussis syndrome group if negative.Other 13 respiratory viruses and atypical pathogens were also detected,and bacterial culture was performed.Pathogens and clinical manifestations were compared between groups.For normal distributed data,continuous variables between groups were compared using two-sample t-test,while categorical variables between groups were compared using chi-square test.Results A total of 90 suspected cases were included,including 46 males and 44 females.Age ranged from 33 days to 18 months,and the median age was 3 months.Thirty-five cases (38.9％) were positive for Bordetella pertussis PCR (the pertussis group),the age ranged from 34 days to 13 months,the median age was 2 months.Fifty-five cases (61.1 ％) were negative (the pertussis syndrome group),with the age ranging from 33 days to 18 months,and the median age was 4 months.In pertussis group,there was a higher percentage of hospitalization history in 1 month before onset than that of the pertussis syndrome group,and the difference was statistically significant (x2=4.496,P＜0.05).Patients in pertussis group were more likely to have cyanosis and cough at night (x2=4.234 and 10.960,both P＜0.05),and the course of pertussis was longer than that in pertussis syndrome (t=3.402,P＜0.05).The length of hospital stay before pertussis onset in pertussis group was longer than that in the pertussis syndrome group (P＜0.05).The mean white blood count in pertussis group was (22.00±9.42) × 109/L,and that in pertussis syndrome group was (16.31±8.10) × 109/L,and the difference between the two groups was statistically significant (t=3.049,P＜0.05).In pertussis group and pertussis syndrome group,influenza virus A was detected in 22 and 44 cases,respectively;rhinovirus in 16 and 25 cases,respectively;parainfluenza virus in 5 and 12 cases,respectively;respiratory syncytial viruses in 3 and 6 cases,respectively.Conclusions Patient who presents with cyanosis,cough at night and high white blood cell count is more likely to have pertussis.Influenza viruses A,humanrhinovirus and human parainfluenza viruses are common pathogens to be found in patients with suspected pertussis under 2 years of age.

Based on the current study of the influence of mechanical factors on cell behavior which relies heavily on experiments in vivo, a culture chamber with a large uniform strain area containing a linear motor-powered, up-to-20-Hz cell stretch loading device was developed to exert mechanical effects on cells. In this paper, using the strain uniformity as the target and the substrate thickness as the variable, the substrate bottom of the conventional incubation chamber is optimized by using finite element technique, and finally a new three-dimensional model of the incubation chamber with "M" type structure in the section is constructed, and the distribution of strain and displacement fields are detected by 3D-DIC to verify the numerical simulation results. The experimental results showed that the new cell culture chamber increased the accuracy and homogeneous area of strain loading by 49.13% to 52.45% compared with that before optimization. In addition, the morphological changes of tongue squamous carcinoma cells under the same strain and different loading times were initially studied using this novel culture chamber. In conclusion, the novel cell culture chamber constructed in this paper combines the advantages of previous techniques to deliver uniform and accurate strains for a wide range of cell mechanobiology studies.
Stress, Mechanical ; Cell Culture Techniques ; Computer Simulation ; Finite Element Analysis