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: Scutellarin in Shuganning injection has potential allergenicity and is prone to causing anaphylactoid reactions. There is an urgent need to establish a simple and rapid chromatographic quantitative method to achieve the limit control of scutellarin in Shuganning injection.
Methods: For scutellarin, HPLC method was used in the quantitative analysis using a Shim-pack GIS C₁₈ (2.1 mm×150 mm, 5 μm) column. The mobile phase was a blend of 0.1% trifluoroacetic acid in water and acetonitrile, and gradient elution progress was applied for the whole process. The flow rate was 0.3 mL·min^-1 and the column temperature was maintained at 37 ℃. The detecting wavelength was 320 nm.
Results: The linear regression equation was y=51 456x-27 352, the correlation coefficient r=0.999 8, namely the calibration curve was linear in the range of 1.02-102.00 μg·mL^-1; the average recovery was 103.76%; the detection and quantification limit for determining scutellarin was 0.16 μg·mL^-1 and 0.57 μg·mL^-1, respectively; the injection sample was stable at room temperature for 48 h.
Conclusion: This method is easy to operate, reproducible and has high accuracy, thus can be used for quality control of Shuganning injection.

To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

Insulin is an important protein hormone that participates in multiple metabolic pathways.Biosynthetic insulin has been widely used in the treatment of type 1 and type 2 diabetes.Currently,the number of reported cases of insulin overdose both at home and abroad is gradually increasing,and insulin homicide is no longer a means of"committing murder without leaving a trace".At present,there are no systematic protocols for the identification of insulin overdose in the field of forensic medi-cine in China.This article introduces the causes,toxicological characteristics,forensic examination,labo-ratory testing methods and indicator reference of insulin overdose.Based on the identification practice and research results and referring to relevant studies on insulin overdose at home and abroad,this pa-per aims to provide recommendations and references for the formulation of forensic identification guide-lines for insulin overdose cases.

Objective:To explore the diagnostic value of transvaginal color Doppler sonography (TVCDS) combined with serum allograft inflammatory factor-1 (AIF-1) and pyruvate kinase M2 type (PKM2) in cervical cancer.Methods:From Jan. 2022 to Jun. 2024, 168 patients with early cervical cancer who visited Taizhou Central Hospital were regarded as the cervical cancer group, and 96 patients with cervical precancerous lesions were regarded as the precancerous lesion group. All patients underwent TVCDS examination to obtain parameters such as peak systolic velocity (PSV), end diastolic velocity (EDV), and resistance index (RI). ELISA method was used to detect serum AIF-1 and PKM2 levels. Kappa test was used to analyze the consistency between different diagnostic methods and pathological results. ROC curve was used to analyze the diagnostic value of serum AIF-1 and PKM2 levels for cervical cancer.Results:The cervical cancer group had manifestly higher proportions of irregular morphology, unclear boundaries, low echo ratio, and levels of PSV, EDV, AIF-1, and PKM2 than precancerous lesion group, and manifestly lower RI than precancerous lesion group ( P<0.05). The consistency analysis between TVCDS diagnosis of cervical cancer and pathological results showed a Kappa value of 0.674 ( P<0.05). The serum levels of AIF-1 and PKM2 in cervical cancer patients with a maximum tumor diameter of ≥ 4 cm, low differentiation, and vaginal infiltration were manifestly higher than those in patients with a maximum tumor diameter of < 4 cm, medium/high differentiation, and non vaginal infiltration ( P<0.05). The AUC of AIF-1 and PKM2 in the diagnosis of cervical cancer was 0.824 and 0.816, respectively, with diagnostic thresholds of 81.21 ng/L and 29.26 ng/mL. The consistency analysis of TVCDS combined with serum AIF-1 and PKM2 in the diagnosis of cervical cancer and pathological results showed a Kappa value of 0.918 ( P<0.05). The negative predictive value, accuracy, and sensitivity of TVCDS combined with serum AIF-1 and PKM2 in the diagnosis of cervical cancer were higher than those of each indicator alone, and the positive predictive value and specificity were higher than those of AIF-1 alone ( P<0.05) . Conclusion:TVCDS combined with serum AIF-1 and PKM2 has high accuracy and sensitivity in the diagnosis of cervical cancer, and their combination can serve as a potential method for clinical diagnosis of cervical cancer.

Objective:To explore the design and application effect of a home-based pulmonary rehabilitation checklist for postoperative lung cancer patients and to analyze the feasibility of this innovative rehabilitation approach.Methods:A prospective non-concurrent controlled study was conducted. Eighty postoperative lung cancer patients from the Department of Thoracic Surgery, Henan Provincial People's Hospital, were conveniently selected. According to the time of admission, postoperative lung cancer patients from April to June 2024 ( n=40) were assigned to the control group, while those postoperative lung cancer patients from August to October 2024 ( n=40) were assigned to the experimental group. The control group was given routine home-based pulmonary rehabilitation knowledge education upon discharge, while the experimental group was provided with the application of a home-based pulmonary rehabilitation checklist in addition to the routine home-based pulmonary rehabilitation knowledge education. Assessments were performed on the day of discharge and 1-month post-discharge using the Chinese version-Strategies Used by People to Promote Health (C-SUPPH), the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-C30 (EORTC-QLQ-C30), the six-minute walk test (6MWT) and the Brog score. Results:A total of 40 patients in each group completed this study. Among them, there were 26 males and 14 females in the control group, aged (51.25 ± 11.39) years, and 23 males and 17 females in the experimental group, aged (53.07 ± 12.21) years. One month after discharge, the scores of positive attitude, self-decision making and self-stress reduction on the C-SUPPH in the experimental group were (44.25 ± 10.29), (30.76 ± 8.31) and (9.51 ± 2.17) points, respectively. They were higher than those in the control group (37.02 ± 7.14), (26.61 ± 6.71) and (7.58 ± 1.09) points, and the differences were statistically significant ( t=-3.65, -2.46, -5.03, all P<0.05). The scores of somatic function, role function, cognitive function and emotional function on the EORTC-QLQ-C30 in the experimental group were (65.77 ± 6.41), (71.46 ± 7.21), (70.11 ± 5.61) and (69.59 ± 5.71) points, respectively. They were higher than those in the control group (57.71 ± 7.01), (64.27 ± 5.25), (62.79 ± 7.18), (61.11 ± 6.25) points, and the differences were statistically significant ( t values were -6.34 to -5.08, all P<0.05). The 6MWT distance in the experimental group was (411.31 ± 35.02) m, which was higher than (376.58 ± 30.26) m in the control group, and the difference was statistically significant ( t=-4.75, P<0.05). The Brog score in the experimental group was (2.12 ± 0.68) points, which was lower than (2.50 ± 0.65) points in the control group, and the difference was statistically significant ( t=2.56, P<0.05). Conclusions:The implementation of home pulmonary rehabilitation list can improve the self-management ability of patients after lung cancer surgery, improve the quality of life, and then enhance the exercise ability, which is worthy of clinical promotion.

Objective:To construct a triple pre-rehabilitation intervention program for patients undergoing radical prostatectomy, to provide a basis for promoting pre-rehabilitation in patients undergoing radical prostatectomy.Methods:Literature analysis was used to search domestic and foreign databases such as China National Knowledge Infrastructure, Wanfang, PubMed, etc, on triple pre-rehabilitation and rapid rehabilitation of patients undergoing radical prostatectomy, with a search time frame from January 1, 2013 to December 31, 2023. The Delphi expert letter consultation was conducted later, and the final draft of the triple pre-rehabilitation intervention program for patients with radical prostatectomy was finally formed.Results:A total of 20 experts completed 2 rounds of inquiries, all were female, with an age of (40.85 ± 5.40) years old. The response rates for the 2 rounds of expert inquiries were both 100%(20/20). The authority coefficients of the experts were 0.87 and 0.90, respectively. Kendall coordination coefficients were 0.11 and 0.21, respectively. The coefficient of variation for each item in the second round of inquiries ranged from 0 to 0.15. The triple pre-rehabilitation intervention program for patients with radical resection of prostate cancer was constructed, including 4 primary indexes, 8 secondary indexes and 25 tertiary indexes.Conclusions:It is scientific, targeted and feasible to construct a triple pre-rehabilitation intervention program for patients undergoing radical prostatectomy based on Delphi method, which can provide clinical basis for pre-rehabilitation of elderly patients undergoing prostate cancer surgery.

Objective:To explore the influence of value orientation brief therapy (VBT) on anxiety and depression symptoms, social function, coping style and self-acceptance level of major depressive disorder adolescents with anxious distress.Methods:From June 2021 to June 2022, seventy adolescent major depressive disorder patients with anxious distress were included in the study, who were randomly divided into study group(35 people, 31 people completed)and control group (35 people, 30 people completed). The study group was given routine treatment combined with VBT, while the control group was given routine treatment only. Before and after treatment, Hamilton anxiety scale(HAMA), Hamilton depression scale (HAMD), social disability screening schedule (SDSS), coping style questionnaire(CSQ) and self-acceptance questionnaire (SAQ) were used to evaluate the two groups, and SPSS 26.0 software was used to statistically analyze the data of the two groups. Paired sample t-test was used for intra-group comparison, and independent sample t-test was used for inter-group comparison. Results:After 6 weeks of treatment, the scores of HAMA((6.03±3.58) vs (14.03±7.06), t=5.55, P<0.01), HAMD((8.77±5.52 ) vs (16.50±7.59), t=4.56, P<0.01)and SDSS((4.23±1.50) vs (6.63±0.96), t=7.43, P<0.01)in the study group were significantly lower than those in the control group, the differences were statistically significant. The scores of self-acceptance((19.23±1.33) vs (13.47±1.46), t=-16.12, P<0.01)and self-evaluation ((19.87±2.87) vs (12.77±1.68), t=-11.75, P<0.01) in the SAQ scale and the scores of problem-solving((8.71±2.30) vs (6.23±3.45), t=3.31, P<0.05) and rationalization ((6.20±3.11) vs (4.67±2.43), t=2.13, P<0.05) in the CSQ questionnaire were significantly higher than those in the control group, the differences were statistically significant. The total effective rate of the study group(90.3%(28/31) vs 66.7%(20/30), χ2=5.09, P<0.05) was significantly higher than that of the control group, the difference was statistically significant. Conclusion:The effect of routine treatment combined with VBT is better, which can effectively improve anxiety and depression symptoms, social function and coping style, and enhance self-acceptance and self-evaluation in adolescent major depressive disorder patients, which is worthy of clinical application.

Complete mesocolic excision in radical colorectal cancer surgery enhances both surgical quality and the accuracy of pathological staging. In the context of sigmoid colon cancer, the optimal extent of lymphadenectomy and the appropriate level of vascular ligation remain controversial. High ligation of the inferior mesenteric artery may facilitate more thorough lymph node dissection and allow for tension-free anastomosis. However, it requires a comprehensive assessment of postoperative complication risks and the preservation of organ function. Para-aortic lymph node dissection has shown potential survival benefits in patients with oligometastatic disease, yet its application should be individualized. Moreover, intraoperative navigation technologies, such as indocyanine green fluorescence imaging, can assist in accurately delineating the dissection field and support the feasibility of personalized surgical strategies. This review synthesizes current evidence and leading domestic and international clinical guidelines to systematically examine the latest developments in lymphadenectomy strategies for sigmoid colon cancer, focusing on mesenteric anatomy, D3 dissection, complete mesocolic excision, vascular ligation levels, para-aortic lymph node dissection, and fluorescence-guided imaging techniques.

Purpose This study aims to investigate the clinicopathological features of diffuse pulmonary menin-gotheliomatosis(DPM).Methods The clinical data of 10 patients with DPM undergoing video-assisted thoracic sur-gery(VATS)were collected,and their clinical and pathological characteristics were analyzed using immunohistochem-istry.Results The detection rate of DPM was 1.19‰,with 90％of the patients being female.DPM predominantly occurred in the age range of 40-60 years,with an average age at diagnosis of 50.7 years.Most patients had no smok-ing history.Pathological diagnosis combined with imaging findings was the main method for diagnosing DPM.80％of the patients were prone to concurrent early-stage invasive pulmonary adenocarcinoma.Laboratory indicators,including pulmonary function,were generally normal.Chest CT showed diffuse multiple ground-glass opacity or cystic nodules in both lungs,with the number of nodules in both lungs ranging from dozens to hundreds,and the maximum diameter of the nodules was 2-6 mm.The median volume and CT value of the pulmonary nodules were 35.32 mm3 and-566 HU,respectively.Pathological features mainly included multiple meningothelial-like nodules observed under the micro-scope.Immunophenotypically,CD56,EMA,PR,and vimentin were often positive.Conclusion DPM is a rare lung disease with no obvious clinical symptoms,and is more common in middle-aged and elderly women.Diffuse multiple nodules in both lungs are its main imaging features.Most DPM patients are complicated with lung adenocarcinoma,and regular follow-up is recommended.