Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the mechanism of matrine hydrochloride injection on acetaminophen(APAP)induced liver injury in mice.Methods Sixty male Kunming mice were randomly divided into blank group,model group and experimental-L,-M,-H groups.The mice were abdominal injected 300 mg·kg-1 APAP to build the acute liver injury modeling.The experimental-L,-M,-H groups were intravenous injected matrine of 0.7,1.4,and 2.8 mg·kg-1,respectively.Blank and model groups were injected with 10％glucose solution 10 mL·kg-1·d-1 via tail vein.Enzyme-linked immunosorbent assay were used to measure the levels of glutamic oxaloacetic transaminase(GOT),glutamic oxaloacetic transaminase(GPT),interleukin-6(IL-6)and tumor necrosis factor-α(TNF-α)in mice serum.The kit were employed to detect the levels of superoxide dismutase(SOD)and malondialdehyde(MDA)in liver tissue.Results The serum GOT levels in the experimental-M,-H groups,model group and blank group were(5 593.45±128.46),(2 316.24±125.37),(8 302.16±267.15)and(40.13±7.69)U·L-1;the GPT levels were(6 159.37±129.64),(2 597.10±120.37),(8 1699.54±259.87)and(36.47±9.46)U·L-1;the IL-6 levels were(159.43±26.42),(96.37±25.84),(215.34±47.68)and(83.72±26.37)pg·mL-1;the TNF-α levels were(327.68±38.37),(249.69±44.97),(477.68±58.59)and(254.35±50.67)pg·mL-1;the SOD levels were(329.46±37.49),(371.16±33.76),(246.84±38.79)and(429.67±23.76)U·mg-1;the MDA levels were(5.34±0.76),(4.09±0.54),(12.46±3.76)and(3.12±0.42)nmol·mg-1.There were significant differences between the experimental-M,-H groups and the model group(all P＜0.05).Conclusion Matrine has a significant protective effect on APAP induced drug-induced liver injury,and its protective mechanism is related to inhibiting inflammatory response and alleviating oxidative stress response.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

ABSTRACT: Meningiomas are the most common primary intracranial neoplasm with diverse pathological types and complicated clinical manifestations. The fifth edition of the WHO Classification of Tumors of the Central Nervous System (WHO CNS5), published in 2021, introduces major changes that advance the role of molecular diagnostics in meningiomas. To follow the revision of WHO CNS5, this expert consensus statement was formed jointly by the Group of Neuro-Oncology, Society of Neurosurgery, Chinese Medical Association together with neuropathologists and evidence-based experts. The consensus provides reference points to integrate key biomarkers into stratification and clinical decision making for meningioma patients. REGISTRATION Practice guideline REgistration for transPAREncy (PREPARE), IPGRP-2022CN234.
Humans ; Meningioma/pathology* ; Consensus ; Neurosurgical Procedures ; Meningeal Neoplasms/pathology*

Objective To observe the role of ultrasound biomicroscopy(UBM)in two-year post-operative follow-up for primary open-angle glaucoma patients with modified CO
Carbon Dioxide ; Follow-Up Studies ; Glaucoma, Open-Angle/surgery* ; Humans ; Microscopy, Acoustic ; Sclera/diagnostic imaging* ; Treatment Outcome

Objective To investigate the prevalence and influencing factors of intestinal protozoan infections among rural children in Henan Province. Methods A total of 104 survey sites were sampled from 35 counties (cities) in Henan Province using the stratified cluster sampling method to investigate the prevalence of intestinal protozoan infections among rural children from 2014 to 2015. The trophozoites and cysts of intestinal protozoa were identified using the iodine staining method and the physiological saline direct smear method (one detection for one stool sample). The prevalence of intestinal protozoan infections was compared among rural children with different characteristics, and the factors affecting intestinal protozoan infections among rural children were identified. Results The overall prevalence of intestinal protozoan infections was 0.60% (40/6 771) among rural children in Henan Province from 2014 to 2015. There were 7 species of intestinal protozoa identified, and there was no species-specific prevalence (χ² = 37.732, P = 0.000). No significant differences were found in prevalence of intestinal protozoan infections among rural children in terms of gender (χ² = 1.793, P = 0.181), age (χ² = 1.443, P = 0.486), occupation (χ² = 0.219, P = 0.896) or ecological region (χ² = 1.700, P = 0.637). In addition, terrain (χ² = 2.311, P = 0.510), economic level (χ² = 4.322, P = 0.229), source of drinking water (χ² = 0.731, P = 0.393), eating raw vegetables (χ² = 1.134, P = 0.287) and deworming (χ² = 1.089, P = 0.297) had no remarkable effects on the prevalence of intestinal protozoan infections among rural children in Henan Province; however, the prevalence of intestinal protozoan infections varied significantly among rural children living in regions with different coverage of non-harmless toilets (χ² = 10.050, P = 0.018). Conclusion The prevalence of intestinal protozoan infections is low among rural children in Henan Province.

Objective: To evaluate the 1-year clinical outcome of orthokeratology contact lens wear and glasses wear for myopia in children, mainly focusing on the effects on the biological parameters of the eyeballs. Methods: A randomized-controlled clinical study analyzed 200 eyes of 200 adolescent, with low and moderate myopia from January 2018 to August 2018 at Chengdu Aier Eye Hospital.The subjects were divided into an orthokeratology group and a spectacles group, 100 eyes in each group.The axial lengths (AL), central corneal thickness (CCT), anterior chamber depth (ACD), and crystalline lens thickness were measured and compared between the two groups before and 6 months, 12 months after wearing the lenses, and 1 month after stopping lens wear.This study conformed to the tenets of the Declaration of Helsinki.Written informed consent was obtained from each subject prior to entering the study cohort.The study protocol was approved by the Ethics Committee of Chengdu Aier Eye Hospital (No.[2018]01-1). Results: The overall difference in AL was statistically significant in the two groups at various time points(F_group= 4.617, P=0.043; F_time=10.939, P=0.023). Compared with before wearing lenses, the AL was significantly lengthened in both of the groups at 6 and 12 months after wearing lenses and 1 month after stopping lens wear (all at P<0.05). There was no significant difference in AL between 1 month after stopping lens wear and 12 months after wearing lenses in the orthokeratology group (P>0.05). Twelve months after wearing lenses, the AL increases values of the orthokeratology group were significantly lower than those of the spectacles group ([0.13±0.06]mm vs. [0.29±0.08]mm) (t=16.000, P=0.002). The differences in CCT at time points in the two groups were statistically significant (F_group=2.297, P=0.013; F_time=11.219, P<0.01). At 6 and 12 months after wearing the lenses, the CCT in the orthokeratology group was significantly thinner than that before lens wear (all at P<0.05). CCT showed no significant difference between 1 month after stopping lens wear and before wearing lenses in the orthokeratology group (P>0.05). There was no statistically significanant difference in the ACD between the two groups at time points (F_group=4.226, P=0.051; F_time=3.208, P=0.057). The overall differences in crystalline lens thickness at time points before and after wearing lenses in the two groups were statistically significant (F_group=13.13, P<0.01; F_time=0.804, P=0.047). At 6 and 12 months after wearing the lenses and 1 month after stopping lens wear, the crystalline lens thickness in the orthokeratology group was significantly greater than that before lens wear and that in the spectacles group at the same time points (all at P<0.05). There was no significant difference in the crystalline lens thickness between 1 month after stopping lens wear and 12 months after wearing the lenses in the orthokeratology group (P>0.05). Conclusions Compared with wearing spectacles, orthokeratology lenses wear can effectively slow down the prolongation of the AL, decrease CCT reversibly and increase crystalline lens thickness in adolescent myopic subjects, but it has no significant effect on the ACD.

Objective: To investigate the application value of caesarean section scar or bikini line incisional approach in laparoscopic sleeve gastrectomy. Methods: The retrospective cohort study was conducted. The clinical data of 162 patients with obesity and metabolic diseases who were admitted to the First Affiliated Hospital of Jinan University between March 2018 and April 2019 were collected. There were 51 males and 111 females, aged (35±8)years, with a range from 12 to 47 years. Of 162 patients, 72 undergoing laparoscopic sleeve gastrectomy via caesarean section scar or bikini line incisional approach and 90 undergoing laparoscopic sleeve gastrectomy via traditional incisional approach were respectively allocated into concealed incision group and traditional incision group. Observation indicators: (1) surgical situations; (2) intraoperative situations; (3) postoperative situations; (4) follow-up. Follow-up using outpatient examination, telephone interview, and WeChat was performed to detect the postoperative complications at 1, 3, 6 months and 1, 2, 5 years postoperatively up to May 2019. Measurement data with normal distribution were represented as Mean±SD, and the t test was used for comparison between groups. Count data were represented as absolute numbers, and were analyzed by the chi-square test or fisher exact probability. Ordinal data were analyzed by the Wilcoxon rank sum test. Results: (1) Surgical situations: patients in the concealed incision group and traditional incision group underwent successfully laparoscopic sleeve gastrectomy, without conversion to open surgery, reoperation, or perioperative death. (2) Intraoperative situations: the operation time and volume of intraoperative blood loss of the concealed incision group were (102±17)minutes and (11±4)mL, respectively, versus (105±19)minutes and (11±4)mL of the traditional incision group (t=-1.232, -0.676, P>0.05). There were 6 cases and 21 cases with additional surgical ports during operation in the concealed incision group and traditional incision group, respectively, with a significant difference between the two groups (χ²=6.280, P<0.05). (3) Postoperative situations: in the concealed incision group, 56 patients were very satisfied with scar appearance and 16 patients were satisfied with scar appearance. In the traditional incision group, 42 patients were very satisfied with scar appearance and 48 patients were satisfied with scar appearance. There was a significant difference in the overall satisfaction with the incision scar between the two groups (Z=-4.012, P<0.05). Duration of postoperative hospital stay and total hospital expenses of the concealed incision group were (4.9±0.9)days and (64 408±5 123)yuan, versus (5.2±1.5)days and (64 953±3 477)yuan of the traditional incision group (t=-1.788, -0.804, P>0.05). There were 19 and 14 patients with gastroesophageal reflux in the concealed incision group and traditional incision group, respectively, with no significant difference between the two groups (χ²=2.894, P>0.05). There was no postoperative complication such as infection, hemorrhage or anastomotic leakage in either group. (4) Follow-up: 32 of 162 patients were lost to follow-up, including 10 in the concealed incision group and 22 in the traditional incision group; other 130 patients were followed up for 1-14 months, with a median follow-up time of 7 months. During the follow-up, 1 patient in the traditional incision group was hospitalized again at 3 months after surgery due to upper gastrointestinal bleeding, and was cured after symptomatic supportive treatment. One patient in the concealed incision group was admitted to the local hospital for functional obstruction at 1 month after surgery and was discharged after symptomatic treatment. Other patients had no readmission due to postoperative complications. Conclusion Laparoscopic sleeve gastrectomy via caesarean section scar or bikini line incision is safe and feasible, with good cosmetic effects.

OBJECTIVE： To establish the method for the rapidly non-destructive quality control of Liuwei dihuang capsule. METHODS： AOTF-NIR spectrometry was adopted. Taking 80 batches of Liuwei dihuang capsule produced by a manufacturer in recent three years as samples， HPLC chromatogram was adopted to determine the contents of loganin， morroniside， paeonol， paeoniflorin and ursolic acid； the content of water was determined according to general principles stated in 2015 edition of Chinese Pharmacopeia （part Ⅰ）. Taking 70 batches of samples as correction set， the partial least square method and the cross-validation algorithm were used to establish the NIR quantitative model of 6 indexes in Liuwei dihuang capsules with the Unscrambler quantitative analysis software. Taking residual 10 batches of samples as validation set， external validation was conducted for the model. RESULTS： The correlation coefficients （R2） of internal and external validation of loganin， morroniside， paeonol， paeoniflorin， the content of water quantitative model were all greater than 0.9； the correction of standand deviation （RMSEC） were 0.372 8， 0.025 4， 0.263 3， 0.288 5， 0.186 7 and 0.037 7； the prediction of standard deviation （RMSEP） were 0.462 2， 0.077 5， 0.472 1， 0.634 9， 0.293 4 and 0.206 9； the external verification showed that mean deviations of preclicted value to actual value were 6.04％， 6.05％， 5.87％， 6.97％， 5.62％ and 4.83％， with the mean deviation less than 10％.CONCLUSIONS：The established method can achieve rapidly non-destructive analysis Liuwei dihuang capsule.