Cerebral venous sinus thrombosis （CVST） is a rare cerebrovascular disease characterized by the formation of blood clots in the intracranial venous system due to various causes， resulting in obstruction of intracranial blood flow or cerebrospinal fluid circulation disorder. This disease often has diverse clinical symptoms， including increased intracranial pressure and focal neurological deficits. Antithrombin Ⅲ （AT Ⅲ）， encoded by the SERPINC1 gene， acts as a serine protease inhibitor for thrombin and coagulation factors Ⅻα， Ⅺα， Ⅸα， and Ⅹα， and antithrombin deficiency caused by SERPINC1 gene mutations is a risk factor for thrombosis. This article reports a case of CVST due to ATⅢ deficiency caused by common mutations in both the intron and exon regions of the SERPINC1 gene in our hospital.

Objective To investigate the association between microvariants at locus DYS570 and Y-SNPs haplogroup.Methods 89 Y-SNPs and 34 Y-STRs in AIYSNP42,AIYSNP47 and YfilerTM Platinum kits were used to detect the genotype of 116 microvariants at locus DYS570 in Kunming,and the Set-B kit was used to detect the core repeat sequences of the DYS570 locus.The data were statistically analyzed by direct counting method.Then,a network map was drawn by Network 10.2,in order to visualize the genetic information of the sample.Results The results demonstrated that 111 DYS570/18.3-21.3 samples had a core repeat sequence of TTT[TITC]18-21,belonging to subgroup O2a2b1a1a1a4-F14494.A DYS570/20.3 sample had a core repeat sequence of[TTTC]15TTC[TTTC]5,belonging to O2a1b1a1a1a1e-F1365 subgroup.A DYS570/17.1 sample had a core repeat sequence of[TTTC]17 T,belonging to the O2a1b1a1a1a-F11 subgroup.Three DYS570(19.2)samples had[TTTC]3 TT[TTTC]16,belonging to the D1a1a-M15 haplogroup.Conclusion The results indicated that the microvariant with the same core repeat structure at locus DYS570 was associated with haplogroups,and the ancestry origin of samples can be inferenced from microvariant characteristics during the practice of forensic medicine.

Objective:To analyze the incidence, epidemiology, and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in Guizhou Province from 2017 to 2021 and provide a scientific basis for monitoring of CJD in Guizhou Province.Methods:In this retrospective study, epidemiological and clinical information on suspected CJD cases reported by nine hospitals in Guizhou Province was collected and analyzed based on the laboratory test results of cerebrospinal fluid, blood, and skin samples from the patients.Results:From 2017 to 2021, a total of 47 patients with suspected CJD were reported in Guizhou Province, including 22 confirmed patients. Of these patients, 18 patients (18/22) were clinically diagnosed with sporadic CJD, 2 patients (2/22) were clinically suspected of having sCJD, and 2 patients (2/22) were confirmed to have genetic CJD. All patients primarily presented with rapid progressive dementia, and abnormal magnetic resonance imaging findings of the head are the main auxiliary examination results (16/20). The positive rate of 14-3-3 protein in cerebrospinal fluid was high (14/21). The blood sample PRNP gene testing revealed that 129 amino acids were M/M homozygous, while 219 amino acids were E/E homozygous. Except for T188K and E200K mutations detected by PRNP gene testing in 2 gCJD cases, no other site mutations were found, and 5 cases were positive for skin PrPSc. Patients' geographical distribution showed no obvious clustering. Patients have a wide range of occupations. The male-to-female ratio was 13:9, with a median age of 64 years. The majority of the patients were Han Chinese, and there was no special epidemiological history. Conclusion:The majority of the confirmed CJD patients in Guizhou Province from 2017 to 2021 are sporadic CJD patients, and their residence, occupation, gender ratio, age distribution, and other characteristics are consistent with the incidence patterns of sporadic CJD.

AIM To study the chemical constituents from the methanol fraction of Premna fulva Craib leaves and their anti-inflammatory activities.METHODS The methanol fraction from P.fluva were isolated and purified by TLC,column chromatography,and HSCCC,then the structures of obtained compounds were identified by physicochemical properties and spectral data.Their anti-inflammatory activities in vitro were evaluated by RAW264.7 model.RESULTS Twelve compounds were isolated and identified as vitexin(1),balanophonin(2),inotodisaccharide(3),4-allyl-2,6-dimethoxyphenol-β-D-glucopyranoside(4),dehydrovomifoliol(5),loliolide(6),(E)-4-((1S,3R,4R)-1-hydroxy-4,5,5-trimethyl-7-oxabicyclo[4.1.0]heptan-1-yl)but-1-en-3-o-ne(7),(E)-4-hydroxyphenylprop-7-ene 4-O-β-D-glucopyranoside(8),4-O-β-D-glucopyranosylbenzoic acid(9),vicenin(10),oleanicacid(11),sesamin(12),respectively.Compounds 1,2,5,7,10,and 12 showed good inhibitory activities against NO,and the IC50 values were(26.42±2.5)、(21.24±2.2)、(25.88±1.9)、(29.72±2.1)、(8.90±1.1)、(9.73±0.7)μmol/L,respectively.CONCLUSION Compounds 2,4-8 are isolated from Premna genus plants for the first time.Compounds 1,2,5,7,10,12 have anti-inflammatory activities.

Objective To analyze the joint efficacy of butylphthalide(NBP)and limb ischemic postcondi-tioning(LIPost C)in the treatment of elderly patients with atherosclerotic cerebral infarction.Methods A total of 160 patients with large atherosclerotic cerebral infarction hospitalized in Bijie Hospital from October 2020 to October 2022 were divided into four groups:NBP,LIPost C,NBP + sham LIPost C,and NBP + LIPost C by the random number table method,with 40 cases in each group.Before and after one-month treatment,the four groups were compared in terms of collateral circulation evaluated by the leptomeningeal scoring(rLMC),neurological function evaluated by the National Institutes of Health Stroke Scale(NIHSS),limb function disability evaluated by the Modified Rankin Scale(MRS),cognitive function evaluated by the Mini Mental State Scale(MMSE),daily living ability evaluated by the Barthel Index,as well as the occurrence of bleeding adverse events.Results After one-month treatment,the four groups all showed an increase in the rLMC score,with the NBP + LIPost C group significantly higher than the other three groups(P＜0.05),and a decrease in the scores of NIHSS and MRS at each time point,with the NBP + LIPost C group significantly lower than the other three groups(P＜0.05).Additionally,the four groups demonstrated an increase in the MMSE score and Barthel index at each time point(P＜0.05),with the NBP + LIPost C group higher than the other three groups(P＜0.05).Moreover,all the four groups showed no statistically significant difference in the incidence of bleeding adverse events(P＞0.05).Conclusion NBP com-bined with LIPost C can effectively promote the establishment of collateral circulation and the recovery of neurological function in elderly patients with atherosclerotic cerebral infarction.Meanwhile,it can improve their motor function,daily living ability,and cognitive function.Moreover,it has high safety.

Objective 聽 聽To evaluate the mid-term outcomes between tricuspid valve detachment (TVD) and non-detachment (NTVD) for ventricular septal defect (VSD). Methods 聽 聽 The patients who underwent perimembranous VSD repair in the Department of Cardiovascular Surgery, West China Hospital from 2015 to 2020 were included. According to the surgical method, the patients were divided into a TVD group and a NTVD group. The clinical data of the two groups were compared. Results 聽 聽 Totally 538 patients were included in the study. There were 240 patients in the TVD group, including 121 males and 119 females, with an average age of 3.85卤8.42 years and an average weight of 14.12卤12.97 kg. There were 298 patients in the NTVD group, including 149 males and 149 females, with an average age of 4.42卤9.36 years and an average weight of 14.87卤12.51 kg. There was no statistical difference in the age, weight, sex, preoperative New York Heart Association (NYHA) classification or tricuspid regurgitation (TR) degree between the two groups (P>0.05). Median follow-up was 30 (23, 40) months in the TVD group, and 29 (23, 41) months in the NTVD group (P=0.600). After operation, one patient in each group developed third-degree atrioventricular block and recovered to sinus rhythm before discharge (P=0.848). No pacemaker was needed. There was no statistical difference in the length of stay (P=0.054), mortality (P=1.000), in-hospital reoperation (P=0.199), or follow-up reoperation (P=0.505). More than 98% of patients in both groups had postoperative TR less than moderate (P=0.926). At the last follow-up, only 7 (2.9%) patients in the TVD group were detected trivial residual shunting, and 14 (4.7%) in the NTVD group (P=0.289). No one needed to have reoperation because of residual VSD. The TVD group showed less TR during the follow-up (P=0.019). Conclusion     TVD is an alternative technique which can be safely used in the closure of VSD, especially in technologically mature medical center. Appropriate tricuspid valve detachment for those hard-to-expose VSDs does not result in poorer tricuspid valve function or higher risk of atrioventricular block, and might reduce the incidence of residual shunting.

Objective To investigate the association of the DYS527a/b and DYF387S1a/b multi-allele pattern with Y-SNP haplogroups.Methods Samples from 295 unrelated males who carrying the DYS527a/b multi-allele pattern were amplified by the YFilerPlus? kit.The genotypes of their frequency distributions,including three multi-copy loci(DYS527a/b,DYF387S1a/b,DYS385a/b)and other single-copy loci were obtained.The DYS527a/b multi-allele pattern and their haplotypes were examined for the associations with Y-chromosome haplogroups using the AIYSNP42 kit,which contains 42 Y-SNP loci.Based on the above results,the association between the DYS527a/b multi-allele patter and its constituent Y-STR haplotypes and related haplogroups was discussed.Results Among the 295 samples,the DYS527a/b tri-allele pattern and tetra-allele pattern accounted for 97.29%and 2.71%respectively,while the DYF387S1a/b tri-allele pattern and tetra-allele encompassed 54.24%and 4.75%.Null allele was detected in DYS448 in 13.22%of the samples.Here,7 Y-SNPs were deticted such as O-M175 and C-M131 which encompassed 45.76%and 45.08%.The haplogroups of R1-M173,N-M231,D1-M174,J-M304 and F-M89 were less than 13 cases,with frequencies ranging from 4.41%～0.34%.There were Y-STR genotypes differences among haplogroups,as haplogroup O-M175 was represented by 4 genotypes of Y-STR profiles characterized by DYS385a/b(12/12,as well as 12/17,12/18,12/19),DYS392(13),DYS593(16)and DYS393(12),and haplogroup C-M130 was characterized by DYS527a/b(19/20/21),DYS385a/b(11),DYS593(17),DYS390(23),Y_GATA_H4(11),and DYS444(13)and so on.Conclusion The DYS527a/b multi-allele pattern is frequently observed in the Kunming population with haplogroup C-M130.In the samples from haplogroups O,C,R1 and N,the DYS527a/b and DYF387S1a/b haplotypes frequently exhibit the multi-allele pattern.Given the frequencies of different haplogroups and the association between Y-SNP haplogroups and Y-STR loci,it could be helpful to look for more details in the paternal lineage search.

Objective:To explore the clinical safety and efficacy of transurethral oral mucosa urethroplasty for urethral meatus and navicular fossa stricture reconstruction.Methods:Retrospective analysis of 9 patients who underwent transurethral repair of urethral meatus and navicular fossa stricture by oral mucosa in our hospital from October 2021 to December 2022. The average age was (58.4±10.4) years old. 5 patients had a history of transurethral endoscopic surgery, 2 had penile lichen sclerosis, and 2 had no obvious causes. Nine patients were diagnosed with urethral meatus and navicular fossa stricture through retrograde urethrography before surgery. The average maximum preoperative urine flow rate was(3.2±0.7)ml/s. Surgical procedure: The incision was firstly made at 6 o'clock using ophthalmic scalpel, the entire layer of urethral scar was opened, and gradually penetrated into the urethral cavity until it reached the normal mucosa of the urethra. A fan-shaped wound was obtained by cutting the scar of 4 to 8 o'clock. The enlarged urethral lumen could smoothly pass through the F24 urethral probe. Measure the stricture length and width, and trim the oral mucosa to the appropriate shape. One arm of the 5-0 absorbable suture passed through the tip of the oral mucosal flap and the normal urethral mucosa outside the apex of the urethral fan-shaped wound, and then passed through the skin on the ventral side of the penis. The other arm of the suture passed through the apex of the fan-shaped wound and passes through the skin on the ventral side of the penis. Tighten the suture to bring the oral mucosa into the urethral cavity and cover the wound surface. If the narrow length was longer, we could suture three stitches to fix the oral mucosa with the V-shaped apex of the fan-shaped wound in a similar way, and the rest could be sutured and fixed with the urethral wound edge in direct vision. The actual measured average length of urethral stricture during the surgery was(1.6±0.5) cm. The appearance of the glans penis, stricture recurrence, maximum urine flow rate, and patient's urination symptoms were recorded after surgery 1 to 3 months. Functional success was defined as the lack of patient reported obstructive voiding symptoms, satisfaction with the appearance of the glans penis, and a slit like external urethral orifice.Results:All 9 patients successfully completed the surgery and the average maximum urine flow rate was(21.5±3.7)ml/s after 3 months of follow up. The overall successful rate was 100%.One patient experienced spraying urination 1 month later after removing the catheter. Examination revealed that protrusion and separation were found at the urethral anastomosis, and symptoms disappeared after urethral dilation. The other patients did not have any obvious complications, satisfactory with the appearance of the penis head and urination.Conclusions:Transurethral oral mucosal repair of urethral meatus and navicular fossa stricture could be a safe, and effective surgical method. It not only solves the problem of urination, but also takes into account the cosmetic effect of penis.

Objective: To investigate the response characteristics of patients with locally advanced/metastatic non-squamous non-small cell lung cancer (nsq-NSCLC) treated with tislelizumab in combination with chemotherapy in the first line. Methods: Patients with nsq-NSCLC who achieved complete or partial remission after treatment with tislelizumab in combination with chemotherapy or chemotherapy alone in the RATIONALE 304 study, as assessed by an independent review board, were selected to analyze the response characteristics and safety profile of the responders. Time to response (TTR) was defined as the time from randomization to the achievement of first objective response. Depth of response (DpR) was defined as the maximum percentage of tumor shrinkage compared with the sum of the baseline target lesion length diameters. Results: As of January 23, 2020, 128 patients treated with tislelizumab in combination with chemotherapy achieved objective tumor response (responders), representing 57.4%(128/223) of the intention-to-treat population, with a TTR of 5.1 to 33.3 weeks and a median TTR of 7.9 weeks. Of the responders (128), 50.8%(65) achieved first remission at the first efficacy assessment (week 6), 31.3%(40) at the second efficacy assessment (week 12), and 18.0%(23) at the third and subsequent tumor assessments. The percentages of responders who achieved a depth of tumor response of 30% to <50%, 50% to <70% and 70% to 100% were 45.3%(58/128), 28.1%(36/128) and 26.6%(34/128), respectively, with median progression-free survival (PFS) of 9.0 months (95% CI: 7.7 to 9.9 months), 11.5 months (95% CI: 7.7 months to not reached) and not reached (95% CI: 11.8 months to not estimable), respectively. Tislelizumab plus chemotherapy were generally well tolerated in responders with similar safety profile to the overall safety population. Conclusion: Among responders to tislelizumab in combination with chemotherapy for nsq-NSCLC, 82.0%(105/128) achieves response within the first two tumor assessments (12 weeks) and 18.0%(23/128) achieves response at later (18 to 33 weeks) assessments, and there is a trend toward prolonged PFS in responders with deeper tumor response.
Humans ; Antibodies, Monoclonal, Humanized/therapeutic use* ; Antineoplastic Combined Chemotherapy Protocols/adverse effects* ; Carcinoma, Non-Small-Cell Lung/pathology* ; Lung Neoplasms/pathology* ; Treatment Outcome

Objective: Compare and analyze the results of the domestic Lanyi AH600 glycated hemoglobin analyzer and other different detection systems to understand the comparability of the detection results of different detectors, and establish the best cut point of Lanyi AH600 determination of haemoglobin A1c (HbA1c) in the diagnosis of diabetes. Methods: Multi center cohort study was adopted. The clinical laboratory departments of 18 medical institutions independently collected test samples from their respective hospitals from March to April 2022, and independently completed comparative analysis of the evaluated instrument (Lanyi AH600) and the reference instrument HbA1c. The reference instruments include four different brands of glycosylated hemoglobin meters, including Arkray, Bio-Rad, DOSOH, and Huizhong. Scatter plot was used to calculate the correlation between the results of different detection systems, and the regression equation was calculated. The consistency analysis between the results of different detection systems was evaluated by Bland Altman method. Consistency judgment principles: (1) When the 95% limits of agreement (95% LoA) of the measurement difference was within 0.4% HbA1c and the measurement score was≥80 points, the comparison consistency was good; (2) When the measurement difference of 95% LoA exceeded 0.4% HbA1c, and the measurement score was≥80 points, the comparison consistency was relatively good; (3) The measurement score was less than 80 points, the comparison consistency was poor. The difference between the results of different detection systems was tested by paired sample T test or Wilcoxon paired sign rank sum test; The best cut-off point of diabetes was analyzed by receiver operating characteristic curve (ROC). Results: The correlation coefficient R² of results between Lanyi AH600 and the reference instrument in 16 hospitals is≥0.99; The Bland Altman consistency analysis showed that the difference of 95% LoA in Nanjing Maternity and Child Health Care Hospital in Jiangsu Province (reference instrument: Arkray HA8180) was -0.486%-0.325%, and the measurement score was 94.6 points (473/500); The difference of 95% LoA in the Tibetan Traditional Medical Hospital of TAR (reference instrument: Bio-Rad Variant II) was -0.727%-0.612%, and the measurement score was 89.8 points; The difference of 95% LoA in the People's Hospital of Chongqing Liang Jiang New Area (reference instrument: Huizhong MQ-2000PT) was -0.231%-0.461%, and the measurement score was 96.6 points; The difference of 95% LoA in the Taihe Hospital of traditional Chinese Medicine in Anhui Province (reference instrument: Huizhong MQ-2000PT) was -0.469%-0.479%, and the measurement score was 91.9 points. The other 14 hospitals, Lanyi AH600, were compared with 4 reference instrument brands, the difference of 95% LoA was less than 0.4% HbA1c, and the scores were all greater than 95 points. The results of paired sample T test or Wilcoxon paired sign rank sum test showed that there was no statistically significant difference between Lanyi AH600 and the reference instrument Arkray HA8180 (Z=1.665,P=0.096), with no statistical difference. The mean difference between the measured values of the two instruments was 0.004%. The comparison data of Lanyi AH600 and the reference instrument of all other institutions had significant differences (all P<0.001), however, it was necessary to consider whether it was within the clinical acceptable range in combination with the results of the Bland-Altman consistency analysis. The ROC curve of HbA1c detected by Lanyi AH600 in 985 patients with diabetes and 3 423 patients with non-diabetes was analyzed, the area under curve (AUC) was 0.877, the standard error was 0.007, and the 95% confidence interval 95%CI was (0.864, 0.891), which was statistically significant (P<0.001). The maximum value of Youden index was 0.634, and the corresponding HbA1c cut point was 6.235%. The sensitivity and specificity of diabetes diagnosis were 76.2% and 87.2%, respectively. Conclusion: Among the hospitals and instruments currently included in this study, among these four hospitals included Nanjing Maternity and Child Health Care Hospital in Jiangsu Province (reference instrument: Arkray HA8180), Tibetan Traditional Medical Hospital of TAR (reference instrument: Bio-Rad Variant Ⅱ), the People's Hospital of Chongqing Liang Jiang New Area (reference instrument: Huizhong MQ-2000PT), and the Taihe Hospital of traditional Chinese Medicine in Anhui Province (reference instrument: Huizhong MQ-2000PT), the comparison between Lanyi AH600 and the reference instruments showed relatively good consistency, while the other 14 hospitals involved four different brands of reference instruments: Arkray, Bio-Rad, DOSOH, and Huizhong, Lanyi AH600 had good consistency with its comparison. The best cut point of the domestic Lanyi AH600 for detecting HbA1c in the diagnosis of diabetes is 6.235%.
Pregnancy ; Child ; Humans ; Female ; Glycated Hemoglobin ; Cohort Studies ; Diabetes Mellitus/diagnosis* ; Sensitivity and Specificity ; ROC Curve