Objective The study aimed to explore the factors influencing individual variations in the therapeutic efficacy of botulinum toxin type A(BoNT-A)in the treatment of benign essential blepharospasm(BEB).Methods A retrospectively analysis was performed on the general information of 40 BEB patients who received BoNT-A injections at our center between 2018 and 2023.The information included gender,age,education level,disease duration,number of injections,injection dose,severity of clinical symptoms,injection methods,and other relevant factors.All patients received both the pretarsal(PT)injection and the PT combining with preseptal(PS)injection(PT-PS).A multivariate linear regression analysis was used to statistically analyze the factors affecting the duration of therapeutic effect(DOT).Results Multiple regression analysis showed that gender,age,education level,clinical symptoms and injection method were closely related to the DOT[F(8,71)=4.372,P<0.001],with the injection method being the strongest predictor.Specifically,the mean DOT for the two injection methods was 136.00(123.00,156.50)days,with the PT-PS method significantly longer than the PT method[144.50(132.25,161.75)vs.125.00(114.00,145.25),P<0.001].Conclusion Gender,age,educational level,clinical symptoms,and injection method are predictive indicators for the DOT of BoNT-A in BEB patients.Specifically,DOT is positively correlated with age but negatively correlated with educational level and severity of clinical symptom.Additionally,the DOT is longer in male patients compared to female patients and in those treated with the PT-PS injection method compared to the PT injection method.

Objective The study aimed to explore the factors influencing individual variations in the therapeutic efficacy of botulinum toxin type A(BoNT-A)in the treatment of benign essential blepharospasm(BEB).Methods A retrospectively analysis was performed on the general information of 40 BEB patients who received BoNT-A injections at our center between 2018 and 2023.The information included gender,age,education level,disease duration,number of injections,injection dose,severity of clinical symptoms,injection methods,and other relevant factors.All patients received both the pretarsal(PT)injection and the PT combining with preseptal(PS)injection(PT-PS).A multivariate linear regression analysis was used to statistically analyze the factors affecting the duration of therapeutic effect(DOT).Results Multiple regression analysis showed that gender,age,education level,clinical symptoms and injection method were closely related to the DOT[F(8,71)=4.372,P<0.001],with the injection method being the strongest predictor.Specifically,the mean DOT for the two injection methods was 136.00(123.00,156.50)days,with the PT-PS method significantly longer than the PT method[144.50(132.25,161.75)vs.125.00(114.00,145.25),P<0.001].Conclusion Gender,age,educational level,clinical symptoms,and injection method are predictive indicators for the DOT of BoNT-A in BEB patients.Specifically,DOT is positively correlated with age but negatively correlated with educational level and severity of clinical symptom.Additionally,the DOT is longer in male patients compared to female patients and in those treated with the PT-PS injection method compared to the PT injection method.

Objective:To improve the operability and stability of the middle cerebral artery occlusion(MCAO)model,we established a novel method,external carotid artery ligation free(ECA-LF),for MCAO model and compared its advantages with the traditional Longa method and Koizumi method.Methods:A total of 100 male C57BL/6 mice were randomly divided into four groups:sham group,Koizumi group,Longa group,and ECA-LF group.The advantages and disadvantages of each method were evaluated in terms of surgical operation time,postoperative animal survival rate,postoperative animal survival rate,neurological functional score,and stability of infarct size.Results:The ECA-LF method spent less time than either the Longa or the Koizumi method during the course of making MCAO model.Com-pared with the Longa group,the ECA-LF group had a lower Garcia score,but was comparable to the Koizumi group.The survival rate of animals in the ECA-LF group was significantly higher than the other two groups 7 days after surgery.The Morris water maze(MWM)test showed that there was no significant difference between the ECA-LF group and oth-er two groups in learning and memory ability.The degree of cerebral edema and infarct size in the ECA-LF group were comparable to the other two groups.Conclusion:Compared with the traditional Longa and Koizumi methods,the ECA-LF method simplifies the surgical procedures,shortens the model-making time,and improves the survival rate of model animal with similar stability to the traditional methods.It has certain advantages in stroke experimental research.

Botulinum toxin(BoNT)is currently the first-line method for treating focal dystonia,which causes muscle paralysis by chemical denervation.Recent neuroimaging studies have found that BoNT treatment could alter neuroplasticity in the brain of patients with focal dystonia.However,the specific central nervous system mechanisms have not been fully elucidated.To this end,here we review the neuroimaging studies on BoNT treatment for dystonia from three aspects:functional magnetic resonance imaging,structural magnetic resonance imaging,and positron emission tomography imaging.It suggests that BoNT may improve the symptoms of dystonia patients by affecting functional connectivity,microstructure,and metabolic levels of the cortex,basal ganglia,thalamus,and cerebellum,etc.Therefore,this review will provide a theoretical reference for further exploring the mechanism and developing potential therapeutic targets of dystonia.

Objective:To improve the operability and stability of the middle cerebral artery occlusion(MCAO)model,we established a novel method,external carotid artery ligation free(ECA-LF),for MCAO model and compared its advantages with the traditional Longa method and Koizumi method.Methods:A total of 100 male C57BL/6 mice were randomly divided into four groups:sham group,Koizumi group,Longa group,and ECA-LF group.The advantages and disadvantages of each method were evaluated in terms of surgical operation time,postoperative animal survival rate,postoperative animal survival rate,neurological functional score,and stability of infarct size.Results:The ECA-LF method spent less time than either the Longa or the Koizumi method during the course of making MCAO model.Com-pared with the Longa group,the ECA-LF group had a lower Garcia score,but was comparable to the Koizumi group.The survival rate of animals in the ECA-LF group was significantly higher than the other two groups 7 days after surgery.The Morris water maze(MWM)test showed that there was no significant difference between the ECA-LF group and oth-er two groups in learning and memory ability.The degree of cerebral edema and infarct size in the ECA-LF group were comparable to the other two groups.Conclusion:Compared with the traditional Longa and Koizumi methods,the ECA-LF method simplifies the surgical procedures,shortens the model-making time,and improves the survival rate of model animal with similar stability to the traditional methods.It has certain advantages in stroke experimental research.

OBJECTIVE: To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions. METHODS: Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and capillary electrophoresis. Genetic counseling and prenatal diagnosis were provided for 3 women carrying the premutations. RESULTS: The carrier rate of CGG repeats of the FMR1 gene was 1 in 178 for the intermediate type and 1 in 772 for the premutation types. The highest frequency allele of CGG was 29 repeats, which accounted for 49.29%, followed by 30 repeats (28.56%) and 36 repeats (8.83%). In case 1, the fetus had a karyotype of 45,X, in addition with premutation type of CGG expansion of the FMR1 gene. Following genetic counseling, the couple chose to terminate the pregnancy through induced labor. The numbers of CGG repeats were respectively 70/- and 29/30 for the husband and wife. In case 2, amniocentesis was performed at 20 weeks of gestation. The number of CGG repeats of the FMR1 gene was 29/-. No abnormality was found in the fetal karyotype and chromosomal copy number variations. The couple chose to continue with the pregnancy. Case 3 refused prenatal diagnosis after genetic counseling and gave birth to a girl at full term, who had a birth weight of 2440 g and no obvious abnormality found during follow-up. CONCLUSION Pregnant women should be screened for FMR1 gene mutations during early and middle pregnancy, and those with high-risk CGG expansions should undergo prenatal diagnosis, genetic counseling and family study.
DNA Copy Number Variations ; Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Genetic Counseling ; Humans ; Mutation ; Pregnancy ; Trinucleotide Repeat Expansion ; Trinucleotide Repeats

OBJECTIVETo analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.

METHODSClinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. All of the 21 exons of the SLC26A4 gene were amplified with PCR and subjected to directly sequencing.

RESULTSThe patient was found to have carried two mutant alleles of the SLC26A4 gene, namely c.1522A to G and c.1229C to T, which were inherited from her father and mother, respectively.

CONCLUSIONSLC26A4 c.1522A to G is likely to be a pathogenic mutation. Above results may facilitate genetic counseling and prenatal diagnosis for this family.

Adult ; Amino Acid Sequence ; Child ; Exons ; Female ; Hearing Loss, Sensorineural ; genetics ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Molecular Sequence Data ; Pedigree ; Vestibular Aqueduct ; abnormalities