OBJECTIVE: To explore the clinical and genetic features of a child with Pontocerebellar hypoplasia type 2B (PCH2B) due to compound heterozygous variants of the TSEN2 gene. METHODS: A PCH2B patient presented at Department of Pediatric Neurology, Xiangya Hospital of Central South University in June 2023 was selected as the study subject. Clinical data of the patient were retrospectively analyzed. The patient and her parents were subjected to whole exome sequencing and bioinformatic analysis. Pathogenicity of the candidate variants were classified based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). A literature review was also conducted by searching the China National Knowledge Infrastructure (CNKI), Wanfang Data, and PubMed databases from their establishment to May 2025 using keywords "TSEN2 gene" "PCH2B" and "Pontocerebellar Hypoplasia 2B" to summarize the clinical and genotypic features of patients with PCH2B due to variants of the TSEN2 gene. This study was approved by the Medical Ethics Committee of the Hospital (No.: #202310892). RESULTS: The patient, a 6-year-5-month-old girl, had exhibited severe global developmental delay, developmental regression, autism spectrum disorder, myoclonus of eyelids, feeding difficulty, irritability, progressive microcephaly, esotropia, and hypotonia. MRI showed reduced volume of bilateral cerebellar hemispheres and vermis. Genetic testing revealed that she has harbored compound heterozygous variants of the TSEN2 gene (NM_025265.4), namely c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile), which were inherited from her father and mother, respectively. Both variants were classified as likely pathogenic based on the ACMG guidelines and were previously unreported. Literature review has identified six PCH2B patients with missense, nonsense, frameshift, and splice site variants of the TSEN2 gene. Their main clinical manifestations included global developmental delay, progressive microcephaly, feeding difficulties, irritability, and vermis hypoplasia. Cranial MRI and genetic testing are crucial for definite diagnosis. CONCLUSION The c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile) compound heterozygous variants of the TSEN2 gene probably underlay the pathogenesis in this patient. Above findings has expanded the genotypic and phenotypic spectra of TSEN2-related PCH2B, and offered guidance for genetic counseling for this family.
Child ; Female ; Humans ; Cerebellar Diseases/genetics* ; Exome Sequencing ; Heterozygote ; Mutation

Objective To evaluate the clinical efficacy of"Tongdu Tiaoshen"acupuncture combined with hand function rehabilitation training in patients with hand dysfunction following cerebral infarction.Methods A total of 104 patients were randomly assigned to either the observation group(receiving"Tongdu Tiaoshen"acupunc-ture combined with hand function rehabilitation training)or the control group(undergoing hand function rehabilita-tion training alone),with 52 patients in each group.Both groups underwent a 4-week treatment regimen.The following outcome measures were assessed pre-and post-treatment:Modified Ashworth Scale(MAS),Modified Lindmark Scale(MLS),Brunnstrom Motor Function Score(BMS)for upper limbs,Fugl-Meyer Assessment(FMA)of upper limb motor function,Modified Barthel Index(MBI),and grip strength(GS).Adverse events were docu-mented,and the clinical efficacy in each group was evaluated by calculating the effective rate.Results After excluding dropouts,a total of 94 cases were included in the final statistical analysis,with 48 cases assigned to the observation group and 46 to the control group.Both groups demonstrated significant improvements in MLS,MAS,BMS,FMA,MBI,and GS scores compared to pre-treatment levels,with all differences being statistically significant(P<0.05).Following treatment,intergroup comparisons also revealed statistically significant differences in all mea-sured indicators(P<0.05).The total effective rate was higher in the observation group(91.7%)than in the control group(82.6%),and the difference in efficacy grades between the two groups was statistically significant(P<0.05).Conclusions"Tongdu Tiaoshen"acupuncture,when combined with hand function training,demonstrates signifi-cantly greater efficacy than hand function rehabilitation training alone in improving post-cerebral infarction hand dysfunction.It enhances grip strength and fine motor coordination of the affected limb,alleviates hand muscle spasticity and joint stiffness,and promotes recovery of upper limb motor function,thereby improving patients'activities of daily living.This integrated therapeutic approach warrants further clinical validation and in-depth research for broader implementation.

Objective:To investigate the relationship between protein tyrosine phosphatase non-receptor type 1 (PTPN1) gene polymorphism and the risk of gestational diabetes mellitus (GDM).Methods:In this case-control study, 4 835 pregnant women who delivered from March, 2012 to July, 2014 in the Department of Gynecology and Obstetrics at the First Hospital of Shanxi Medical University were consecutively enrolled. Among them, 789 cases were diagnosed with GDM. A simple random sampling method was used to select 334 pregnant women with GDM as the case group, and 334 healthy pregnant women matched by maternal age, gestation time and residence were set as control. The DNA genotyping was performed in the subjects, and those with genotyping deletions10% were excluded; and finally, 322 and 317 subjects were included in case and control group, respectively. Under the codominant, dominant, recessive, and allelic genetic models, the unconditional logistic regression model was used to check the relationship between 13 candidate single nucleotide polymorphism (snp) loci in PTPN1 gene and the risk of GDM. The Haploview was used to analyze the relationship between haplotypes and risk of GDM, and multiple comparisons were adjusted with the false discovery rate (FDR) method.Results:The age of the 639 pregnant women analyzed in this study was (30.28±4.32) years. The proportions of pre-pregnancy body mass index (BMI)≥24.0 kg/m 2 and having a family history of diabetes were significantly higher in the GDM group compared to those in the control group (29.19% vs 16.72% and 13.04% vs 6.31%, respectively, both P0.05). The rs6096644 locus was positively associated with increased risk of GDM in co-dominant (GG vs AA, OR=2.76, 95% CI: 1.18-6.44) and recessive (GG vs AA+AG, OR=2.78, 95% CI: 1.20-6.46) genetic models (all q0.2). The rs6096655 locus was positively associated with increased risk of GDM in codominant (AA vs GG, OR=5.90, 95% CI: 1.27-27.36) and recessive (AA vs GG+GA, OR=5.50, 95% CI: 1.19-25.38) and alleles (A vs G, OR=1.51, 95% CI: 1.09-2.08) genetic models (all q0.2). The rs6013317 locus was associated with an increased risk of GDM in the allele (A vs G, OR=1.74, 95% CI: 1.15-2.63) genetic model (all q0.2). The GAGG haplotype and GGAG haplotype in haplotype block 1 (rs4811262, rs6096646, rs6096655, rs6013317), and the GGGA haplotype in haplotype block 2 (rs6068018, rs6123105, rs6013324, rs2869621) of the PTPN1 gene were all positively associated with an increased risk of GDM (all P0.05). Conclusion:PTPN1 gene polymorphisms may associated with risk of GDM, moreover, complex haplotype structures within the gene influence the risk of GDM.

Neuronal ceroid lipofuscinoses (NCLs) are a group of monogenic lysosomal storage diseases characterized by progressive cognitive and motor deterioration, visual impairment, epileptic seizures, and early death. The therapeutic landscape for NCLs encompasses a range of approaches, including enzyme replacement therapy, gene therapy, stem cell therapy, immunotherapy and small molecule pharmacotherapy. A recombinant human tripeptidyl peptidase 1 is the only approved enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 disease administered via intracerebroventricular infusion. Other potential treatments for the NCLs are at preclinical stages and under clinical trials. This review provides an updated progress in pre-clinical and clinical study of potential therapeutics for the NCLs.

Objective To study the clinical value of stroboscopic laryngoscope combined with narrow band imaging endoscope in the diagnosis of benign and malignant glottic lesions.Methods A total of 60 patients(84 sides of vocal cord)who visited our department from June 2022 to January 2023 with hoarseness as the main complaint and were found to have glottic lesions by electronic nasopharyngoscopy were selected.In all 60 patients with 84 sides of vocal cord degenerative lesions,stroboscopic laryngoscopy and narrow band imaging(NBI)endoscopy were com-pleted.The examination results were evaluated and graded separately.The same operative group performed the re-section biopsy of vocal cord lesions under general anesthesia and laryngoscope respectively,and the pathological re-sults were used as the diagnostic gold standard.With sensitivity,specificity,accuracy,false negative rate,and false positive rate as the main evaluation indexes,the differences in diagnostic accuracy between single test technique and combined application of the two techniques were analyzed.Results Pathological results showed squamous cell carci-noma on 18 sides,carcinoma in situ on 4 sides,severe dysplasia on 4 sides,mild and moderate dysplasia on 13 sides,and papilloma,chronic,mucosal,nflammation,hyperplasia,hypokeratosis,hyperkeratosis on 45 sides.The sensitivity of strobe laryngoscopy detection was 53.06％and specificity was 60.34％.The sensitivity of NBI endo-scopic detection was 88.46％,and the specificity was 89.66％.The sensitivity of strobe laryngoscopy combined with NBI endoscopy was 96.15％,and the specificity was 94.83％.The areas under the ROC curve of strobe laryn-goscopy,NBI endoscopy and white light imaging combined with narrowband imaging were 0.888(95％CI:0.820～0.957),0.943(95％CI:0.885～1),0.970(95％CI:0.942～0.999),respectively.The area under the curve of the combined method was higher than that of the single method,and the difference was statistically significant(P＜0.05).Conclusion Stroboscopic laryngoscope combined with NBI endoscope can improve the diagnostic accuracy of benign and malignant glottic lesions.

Objective To evaluate the clinical efficacy of"Tongdu Tiaoshen"acupuncture combined with hand function rehabilitation training in patients with hand dysfunction following cerebral infarction.Methods A total of 104 patients were randomly assigned to either the observation group(receiving"Tongdu Tiaoshen"acupunc-ture combined with hand function rehabilitation training)or the control group(undergoing hand function rehabilita-tion training alone),with 52 patients in each group.Both groups underwent a 4-week treatment regimen.The following outcome measures were assessed pre-and post-treatment:Modified Ashworth Scale(MAS),Modified Lindmark Scale(MLS),Brunnstrom Motor Function Score(BMS)for upper limbs,Fugl-Meyer Assessment(FMA)of upper limb motor function,Modified Barthel Index(MBI),and grip strength(GS).Adverse events were docu-mented,and the clinical efficacy in each group was evaluated by calculating the effective rate.Results After excluding dropouts,a total of 94 cases were included in the final statistical analysis,with 48 cases assigned to the observation group and 46 to the control group.Both groups demonstrated significant improvements in MLS,MAS,BMS,FMA,MBI,and GS scores compared to pre-treatment levels,with all differences being statistically significant(P<0.05).Following treatment,intergroup comparisons also revealed statistically significant differences in all mea-sured indicators(P<0.05).The total effective rate was higher in the observation group(91.7%)than in the control group(82.6%),and the difference in efficacy grades between the two groups was statistically significant(P<0.05).Conclusions"Tongdu Tiaoshen"acupuncture,when combined with hand function training,demonstrates signifi-cantly greater efficacy than hand function rehabilitation training alone in improving post-cerebral infarction hand dysfunction.It enhances grip strength and fine motor coordination of the affected limb,alleviates hand muscle spasticity and joint stiffness,and promotes recovery of upper limb motor function,thereby improving patients'activities of daily living.This integrated therapeutic approach warrants further clinical validation and in-depth research for broader implementation.

Objective To study the clinical value of stroboscopic laryngoscope combined with narrow band imaging endoscope in the diagnosis of benign and malignant glottic lesions.Methods A total of 60 patients(84 sides of vocal cord)who visited our department from June 2022 to January 2023 with hoarseness as the main complaint and were found to have glottic lesions by electronic nasopharyngoscopy were selected.In all 60 patients with 84 sides of vocal cord degenerative lesions,stroboscopic laryngoscopy and narrow band imaging(NBI)endoscopy were com-pleted.The examination results were evaluated and graded separately.The same operative group performed the re-section biopsy of vocal cord lesions under general anesthesia and laryngoscope respectively,and the pathological re-sults were used as the diagnostic gold standard.With sensitivity,specificity,accuracy,false negative rate,and false positive rate as the main evaluation indexes,the differences in diagnostic accuracy between single test technique and combined application of the two techniques were analyzed.Results Pathological results showed squamous cell carci-noma on 18 sides,carcinoma in situ on 4 sides,severe dysplasia on 4 sides,mild and moderate dysplasia on 13 sides,and papilloma,chronic,mucosal,nflammation,hyperplasia,hypokeratosis,hyperkeratosis on 45 sides.The sensitivity of strobe laryngoscopy detection was 53.06％and specificity was 60.34％.The sensitivity of NBI endo-scopic detection was 88.46％,and the specificity was 89.66％.The sensitivity of strobe laryngoscopy combined with NBI endoscopy was 96.15％,and the specificity was 94.83％.The areas under the ROC curve of strobe laryn-goscopy,NBI endoscopy and white light imaging combined with narrowband imaging were 0.888(95％CI:0.820～0.957),0.943(95％CI:0.885～1),0.970(95％CI:0.942～0.999),respectively.The area under the curve of the combined method was higher than that of the single method,and the difference was statistically significant(P＜0.05).Conclusion Stroboscopic laryngoscope combined with NBI endoscope can improve the diagnostic accuracy of benign and malignant glottic lesions.

Objective:To investigate the relationship between protein tyrosine phosphatase non-receptor type 1 (PTPN1) gene polymorphism and the risk of gestational diabetes mellitus (GDM).Methods:In this case-control study, 4 835 pregnant women who delivered from March, 2012 to July, 2014 in the Department of Gynecology and Obstetrics at the First Hospital of Shanxi Medical University were consecutively enrolled. Among them, 789 cases were diagnosed with GDM. A simple random sampling method was used to select 334 pregnant women with GDM as the case group, and 334 healthy pregnant women matched by maternal age, gestation time and residence were set as control. The DNA genotyping was performed in the subjects, and those with genotyping deletions10% were excluded; and finally, 322 and 317 subjects were included in case and control group, respectively. Under the codominant, dominant, recessive, and allelic genetic models, the unconditional logistic regression model was used to check the relationship between 13 candidate single nucleotide polymorphism (snp) loci in PTPN1 gene and the risk of GDM. The Haploview was used to analyze the relationship between haplotypes and risk of GDM, and multiple comparisons were adjusted with the false discovery rate (FDR) method.Results:The age of the 639 pregnant women analyzed in this study was (30.28±4.32) years. The proportions of pre-pregnancy body mass index (BMI)≥24.0 kg/m 2 and having a family history of diabetes were significantly higher in the GDM group compared to those in the control group (29.19% vs 16.72% and 13.04% vs 6.31%, respectively, both P0.05). The rs6096644 locus was positively associated with increased risk of GDM in co-dominant (GG vs AA, OR=2.76, 95% CI: 1.18-6.44) and recessive (GG vs AA+AG, OR=2.78, 95% CI: 1.20-6.46) genetic models (all q0.2). The rs6096655 locus was positively associated with increased risk of GDM in codominant (AA vs GG, OR=5.90, 95% CI: 1.27-27.36) and recessive (AA vs GG+GA, OR=5.50, 95% CI: 1.19-25.38) and alleles (A vs G, OR=1.51, 95% CI: 1.09-2.08) genetic models (all q0.2). The rs6013317 locus was associated with an increased risk of GDM in the allele (A vs G, OR=1.74, 95% CI: 1.15-2.63) genetic model (all q0.2). The GAGG haplotype and GGAG haplotype in haplotype block 1 (rs4811262, rs6096646, rs6096655, rs6013317), and the GGGA haplotype in haplotype block 2 (rs6068018, rs6123105, rs6013324, rs2869621) of the PTPN1 gene were all positively associated with an increased risk of GDM (all P0.05). Conclusion:PTPN1 gene polymorphisms may associated with risk of GDM, moreover, complex haplotype structures within the gene influence the risk of GDM.

Neuronal ceroid lipofuscinoses (NCLs) are a group of monogenic lysosomal storage diseases characterized by progressive cognitive and motor deterioration, visual impairment, epileptic seizures, and early death. The therapeutic landscape for NCLs encompasses a range of approaches, including enzyme replacement therapy, gene therapy, stem cell therapy, immunotherapy and small molecule pharmacotherapy. A recombinant human tripeptidyl peptidase 1 is the only approved enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 disease administered via intracerebroventricular infusion. Other potential treatments for the NCLs are at preclinical stages and under clinical trials. This review provides an updated progress in pre-clinical and clinical study of potential therapeutics for the NCLs.

Objective To investigate the effects of calorie-restricted diet(CRD)combined with intesti-nal micro-ecological preparation on the clinical outcomes of overweight/obese infertile patients undergoing fresh embryo transfer cycle.Methods A total of 197 cases of fresh embryo transfer assisted by in vitro fertili-zation(IVF)/intracytoplasmic sperm injection(ICSI)-embryo transfer(ET)in the hospital from January,2019 to December,2021 were selected as the research objects,and were divided into the overweight interven-tion group(n=46),the overweight control group(n=85)and the obesity intervention group(n=85)accord-ing to the body mass index(BMI)and whether they accepted CRD intervention or not.Results Compared to before the intervention,the overweight intervention group had significantly lower body mass[(63.59±4.90)kg vs.(67.47±5.10)kg],BMI[(25.74±1.26)kg/m2 vs.(26.58±0.75)kg/m2],body fat percentage[(36.51±3.76)％vs.(39.21±4.26)％],waist to hip ratio(0.88±0.04 vs.0.91±0.04),visceral fat grade(10.80±2.45 vs.12.63±2.60),and basal metabolic rate[(1 235.98±74.32)kcal vs.(1 254.63±77.23)kcal],P＜0.05;The body mass[(71.79±9.78)kg vs.(77.18±9.62)kg],BMI[(29.04±2.96)kg/m2 vs.(31.21±2.64)kg/m2],body fat percentage[(40.47±4.77)％vs.(43.97±3.81)％],waist to hip ratio(0.92±0.05 vs.0.96±0.06),and visceral fat grade(14.00±3.74 vs.16.59±3.15)of the obesity interven-tion group were significantly reduced(P＜0.05).Compared with the overweight control group,the number of transplanted embryos(1.85±0.36 vs.1.96±0.19)in the overweight intervention group was less(P＜0.05),while the number of live births(0.61±0.37 vs.0.56±0.36)was more,the live birth rate(43.48％vs.40.00％)was higher,but there was no statistically significant difference(P＞0.05).The clinical preg-nancy rate and live birth rate in the obesity intervention group were higher than those in the control group(72.41％vs.51.35％and 58.62％vs.35.14％),with no statistical significance,but with a strong statistical significance(P＞0.05).Conclusion CRD combined with intestinal micro-ecological preparation can signifi-cantly reduce the body mass and body fat of overweight/obese infertile patients,may help improve the success rate of assisted reproduction in obese infertile patients.