Genetic counseling for hearing loss today / 临床耳鼻咽喉头颈外科杂志

Genetic counseling for hearing loss today originated from decoding the genetic code of hereditary hearing loss, which serves as an effective strategy for preventing hearing loss and constitutes a crucial component of the diagnostic and therapeutic framework. This paper described the main principles and contents of genetic counseling for hearing loss, the key points of counseling across various genetic models and its application in tertiary prevention strategies targeting hearing impairment. The prospects of an AI-assisted genetic counseling decision system and the envisions of genetic counseling in preventing hereditary hearing loss were introduced. Genetic counseling for hearing loss today embodies the hallmark of a new era, which is inseparable from the advancements in science and technology, and will undoubtedly contribute to precise gene intervention!

Correlation between Helicobacter pylori infection and gastrointestinal tumor in the physical examination population in Xi'an City / 公共卫生与预防医学

Objective To analyze the spatial distribution of Helicobacter Pylori (Hp) infection and its correlation with gastrointestinal tumors in the physical examination population of Xi'an city, and to provide reference for the prevention of gastrointestinal tumors in this area. Methods A total of 23 200 subjects who underwent physical examination in 25 public hospitals in Xi'an from January 2019 to January 2023 were selected as the research objects. The basic Information of the patients was derived through the Hospital Information System (HIS), and all subjects underwent 13C-breath test and gastroenterological endoscope. ArcGIS 10.6 software was used to draw a statistical map of Hp infection in Xi 'an for spatial autocorrelation analysis. Hp infection in patients with different gastrointestinal tumors was analyzed. Results In this study population, there were 10 858 cases of Hp infection , with an infection rate of 46.80% ; among them , 5 491 cases were male, with an infection rate of 46.60% , and 5,367 cases were female, with an infection rate of 47.01% , and there was no significant difference in the infection rate between genders (P>0.05). The prevalence of HP infection was higher in the 30-year-old and 20-year-old groups, 55.62% and 42.71%, respectively, and the infection rate showed a first increase and then a decreasing trend with age (χ2trend = 6201.21, 6945.22 , P2=13.49, 16.16, 17.27, 24.66, P<0.05 for all). Conclusion The distribution of Hp infection in the physical examination population of Xi'an city has the characteristics of spatial aggregation and is related to gastrointestinal tumor diseases. It is suggested to carry out Hp infection education for the population in key areas to prevent the occurrence of gastrointestinal tumor diseases.

Exploration of family rehabilitation model for children with scar contracture after hand burns / 中华烧伤杂志

Objective: To explore the family rehabilitation model for children with scar contracture after hand burns and observe its efficacy. Methods: A retrospective non-randomized controlled study was conducted. From March 2020 to March 2021, 30 children with scar contracture after deep partial-thickness to full-thickness burns of hands, who met the inclusion criteria, were hospitalized in the Burn Center of PLA of the First Affiliated Hospital of Air Force Medical University. According to the rehabilitation model adopted, 18 children (23 affected hands) were included in a group mainly treated by family rehabilitation (hereinafter referred to as family rehabilitation group), and 12 children (15 affected hands) were included in another group mainly treated by hospital rehabilitation (hereinafter referred to as hospital rehabilitation group). In the former group, there were 11 males and 7 females, aged (4.8±2.1) years, who began rehabilitation treatment (3.1±0.8) d after wound healing; in the latter group, there were 7 males and 5 females, aged (4.6±2.1) years, who began rehabilitation treatment (2.8±0.7) d after wound healing. The children in hospital rehabilitation group mainly received active and passive rehabilitation training in the hospital, supplemented by independent rehabilitation training after returning home; after 1-2 weeks of active and passive rehabilitation training in the hospital, the children in family rehabilitation group received active and passive rehabilitation training at home under the guidance of rehabilitation therapists through WeChat platform. Both groups of children were treated for 6 months. During the treatment, they wore pressure gloves and used hand flexion training belts and finger splitting braces. Before treatment and after 6 months of treatment, the modified Vancouver scar scale, the total active movement of the hand method, and Carroll quantitative test of upper extremity function were used to score/rate the scar of the affected hand (with the difference of scar score between before treatment and after treatment being calculated), the joint range of motion (with excellent and good ratio being calculated), and the function of the affected limb, respectively. Data were statistically analyzed with independent sample t test, equivalence test, Fisher's exact probability test, and Mann-Whitney U test. Results: The differences of scar scores of the affected hands of children in family rehabilitation group and hospital rehabilitation group between after 6 months of treatment and those before treatment were 3.0 (2.0, 7.0) and 3.0 (2.0, 8.0) respectively (with 95% confidence interval of 2.37-5.38 and 1.95-5.91). The 95% confidence interval of the difference between the differences of the two groups was -2.43-2.21, which was within the equivalent boundary value of -3-3 (P<0.05). The excellent and good ratios of joint range of motion of the affected hand of children in family rehabilitation group and hospital rehabilitation group were 3/23 and 2/15 respectively before treatment, and 15/23 and 12/15 respectively after 6 months of treatment. The ratings of joint range of motion of the affected hand of children in family rehabilitation group and hospital rehabilitation group after 6 months of treatment were significantly higher than those before treatment (with Z values of 3.58 and 2.30, respectively, P<0.05), but the ratings of joint range of motion of the affected hand between the two groups were similar before treatment and after 6 months of treatment (with Z values of 0.39 and 0.55, respectively, P>0.05). The functional ratings of the affected limbs of children in family rehabilitation group and hospital rehabilitation group after 6 months of treatment were significantly higher than those before treatment (with Z values of 3.98 and 3.51, respectively, P<0.05), but the functional ratings of the affected limbs between the two groups were similar before treatment and after 6 months of treatment (with Z values of 1.27 and 0.38, respectively, P>0.05). Conclusions: The WeChat platform assisted rehabilitation treatment with mainly family rehabilitation, combined with hand flexion and extension brace can effectively reduce the scarring after children's hand burns, improve the joint range of motion of the affected hands, and promote the recovery of affected limb function. The effect is similar to that of hospital-based rehabilitation providing an optional rehabilitation, treatment method for children who cannot continue to receive treatment in hospital.

Analysis on missed diagnosis or misdiagnosis of anomalous origin of left coronary artery from pulmonary artery by echocardiography from one single medical center / 中华心血管病杂志

Objectives: To analyze the reasons of missed diagnosis or misdiagnosis on anomalous origin of left coronary artery from pulmonary artery (ALCAPA) by echocardiography. Methods: This is a retrospective study. Patients with ALCAPA who underwent surgical treatment in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from August 2008 to December 2021 were included. According to the results of preoperative echocardiography and surgical diagnosis, the patients were divided into confirmed group or missed diagnosis/misdiagnosis group. The results of preoperative echocardiography were collected, and the specific echocardiographic signs were analyzed. According to the experience of the doctors, the echocardiographic signs were divided into four types, namely clear displayed, vague/doubtful displayed, no display and no notice, and the display rate of each sign was calculated (display rate=number of clearly displayed cases/total number of cases×100%). By referring the surgical data, we analyzed and recorded the pathological anatomy and pathophysiological characteristics of the patients, and the rate of missed diagnosis/misdiagnosis of echocardiography in patients with different characteristics was compared. Results: A total of 21 patients were enrolled, including 11 males, aged 1.8 (0.8, 12.3) years (range 1 month to 47 years). Except for one patient with anomalous origin of left anterior descending artery, the others were all originated from the main left coronary artery (LCA). There were 13 cases of ALCAPA in infant and children, and 8 cases of adult ALCAPA. There were 15 cases in the confirmed group (diagnostic accuracy was 71.4% (15/21)), and 6 cases in the missed diagnosis/misdiagnosis group (three cases were misdiagnosed as primary endocardial fibroelastosis, two cases were misdiagnosed as coronary-pulmonary artery fistula; and one case was missed diagnosis). The working years of the physicians in the confirmed group were longer than those in the missed diagnosis/misdiagnosed group ((12.8±5.6) years vs. (8.3±4.7) years, P=0.045). In infants with ALCAPA, the detection rate of LCA-pulmonary shunt (8/10 vs. 0, P=0.035) and coronary collateral circulation (7/10 vs. 0, P=0.042) in confirmed group was higher than that in missed diagnosis/misdiagnosed group. In adult ALCAPA patients, the detection rate of LCA-pulmonary artery shunt was higher in confirmed group than that in missed diagnosis/misdiagnosed group (4/5 vs. 0, P=0.021). The missed diagnosis/misdiagnosis rate of adult type was higher than that of infant type (3/8 vs. 3/13, P=0.410). The rate of missed diagnosis/misdiagnosis was higher in patients with abnormal origin of branches than that of abnormal origin of main trunk (1/1 vs. 5/21, P=0.028). The rate of missed diagnosis/misdiagnosis in patients with LCA running between the main and pulmonary arteries was higher than that distant from the main pulmonary artery septum (4/7 vs. 2/14, P=0.064). The rate of missed diagnosis/misdiagnosis in patients with severe pulmonary hypertension was higher than that in patients without severe pulmonary hypertension (2/3 vs. 4/18, P=0.184). The reasons with an echocardiography missed diagnosis/misdiagnosis rate of≥50% included that (1) the proximal segment of LCA ran between the main and pulmonary arteries; (2) abnormal opening of LCA at the right posterior part of the pulmonary artery; (3) abnormal origin of LCA branches; (4) complicated with severe pulmonary hypertension. Conclusions: Echocardiography physicians' knowledge of ALCAPA and diagnostic vigilance are critical to the accuracy of diagnosis. Attention should be paid to the pediatric cases with no obvious precipitating factors of left ventricular enlargement, regardless of whether the left ventricular function is normal or not, the origin of coronary artery should be routinely explored.

Association Analysis between Genotype and Phenotype of α,β-Thalassaemia Carriers in Huizhou Area of Guangdong Province / 中国实验血液学杂志

OBJECTIVE@#To analyze the prevalence, genotype distribution and hematological characteristics of α,β-thalassaemia carriers in Huizhou area of Guangdong Province.@*METHODS@#10 809 carriers of simple β-thalassaemia and 1 757 carriers of α,β-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis. Suspension array technology, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot blot were used for the genotyping of thalassaemia carriers.@*RESULTS@#The prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province was 1.99%. A total of 62 genotypes were detected, and the most prevalent genotype was --SEA/ αα, βCD41-42/ βN (19.29%), the next was --SEA/ αα, βIVS-II-654/ βN (16.73%). Significant differences in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were found between different genotype groups for simple β-thalassaemia and α,β-thalassaemia. Violin plots showed that carriers with co-inheritance of β-thalassaemia and mild α-thalassaemia expressed the lightest anemia, and carriers with co-inheritance of β-thalassaemia and hemoglobin H (Hb H) disease expressed the most severe anemia.@*CONCLUSION@#There is a high prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province. Because of the lack of specific hematological makers for diagnosis of α,β-thalassaemia, it is necessary to distinguish it from simple β-thalassaemia by genotyping of α- and β-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.

Apalutamide for metastatic castration-sensitive prostate cancer: final analysis of the Asian subpopulation in the TITAN trial / 亚洲男科学杂志(英文版)

The final analysis of the phase 3 Targeted Investigational Treatment Analysis of Novel Anti-androgen (TITAN) trial showed improvement in overall survival (OS) and other efficacy endpoints with apalutamide plus androgen deprivation therapy (ADT) versus ADT alone in patients with metastatic castration-sensitive prostate cancer (mCSPC). As ethnicity and regional differences may affect treatment outcomes in advanced prostate cancer, a post hoc final analysis was conducted to assess the efficacy and safety of apalutamide in the Asian subpopulation. Event-driven endpoints were OS, and time from randomization to initiation of castration resistance, prostate-specific antigen (PSA) progression, and second progression-free survival (PFS2) on first subsequent therapy or death. Efficacy endpoints were assessed using the Kaplan-Meier method and Cox proportional-hazards models without formal statistical testing and adjustment for multiplicity. Participating Asian patients received once-daily apalutamide 240 mg ( n = 111) or placebo ( n = 110) plus ADT. After a median follow-up of 42.5 months and despite crossover of 47 placebo recipients to open-label apalutamide, apalutamide reduced the risk of death by 32% (hazard ratio [HR]: 0.68; 95% confidence interval [CI]: 0.42-1.13), risk of castration resistance by 69% (HR: 0.31; 95% CI: 0.21-0.46), PSA progression by 79% (HR: 0.21; 95% CI: 0.13-0.35) and PFS2 by 24% (HR: 0.76; 95% CI: 0.44-1.29) relative to placebo. The outcomes were comparable between subgroups with low- and high-volume disease at baseline. No new safety issues were identified. Apalutamide provides valuable clinical benefits to Asian patients with mCSPC, with an efficacy and safety profile consistent with that in the overall patient population.

Short-term clinical and echocardiographic outcomes of the novel domestic transcatheter edge-to-edge repair Neonova? system in patients with mitral regurgitation / 中华超声影像学杂志

Objective:To investigate short-term safety, efficacy and the learning curve of this self-developed novel transcatheter valve repair system (Neonova?) in patients with mitral regurgitation, and explore the role of perioperative echocardiography.Methods:Ten patients who visited the Union Hospital of Tongji Medical College, Huazhong University of Science and Technology from June 2021 to March 2022 and met the inclusive criteria were prospectively enrolled. All the patients were at high risk of surgery with moderate to severe or severe mitral regurgitation (MR). Clamps of Neonova? were implanted under guidance of transesophageal echocardiography and digital subtraction angiography. Clinical outcomes, echocardiography indexes and learning curves of this technique were evaluated immediately after intervention, 7 d, 1 month and 3 months post-intervention.Results:The technical success rate was 100% with MR relieved in all patients immediately after intervention. The device and procedural success rates were both 90.0% with 1 patient received surgical replacement at 37 days post-intervention while the others′ reduced to mild (8/9) and moderate (1/9) MR. New York Heart Association class and the Kansas City Cardiomyopathy Questionnaire improved significantly (all P<0.001). Mean mitral valve pressure gradient didn′t increase significantly after intervention when compared with that before intervention( P=0.324), and no mitral stenosis was observed. Left ventricular end-diastolic diameter decreased significantly ( P=0.008) during follow up.Procedure duration ranged from 60 to 300 (175.8±75.2)minutes. The simple linear regression model between procedure volume and duration showed that procedure duration decreased significantly with the increase of procedure volume ( F=15.857, P=0.004). Conclusions:Neonova? implantation can improve MR severity and clinical symptoms safely and effectively. Transthoracic echocardiography and transesophageal echocardiography are essential for perioperative management of transcatheter mitral valve repair.

Retrospective Clinical Study on Integrated Chinese and Western Medicine in Treatment of Limited-Stage Small Cell Lung Cancer / 中国结合医学杂志

OBJECTIVE@#To investigate the efficacy of integrated Chinese and Western medicine extending the progression-free survival (PFS) and overall survival (OS) of limited-stage small cell lung cancer (LS-SCLC) patients after the first-line chemoradiotherapy.@*METHODS@#The data of 67 LS-SCLC patients who received combined treatment of CM and Western medicine (WM) between January 2013 and May 2020 at the outpatient clinic of Guang'anmen Hospital were retrospectively analyzed. Thirty-six LS-SCLC patients who received only WM treatment was used as the WM control group. The medical data of the two groups were statistically analyzed. Survival analysis was performed using the product-limit method (Kaplan-Meier analysis). The median OS and PFS were calculated, and survival curves were compared by the Log rank test. The cumulative survival rates at 1, 2, and 5 years were estimated by the life table analysis. Stratified survival analysis was performed between patients with different CM administration time.@*RESULTS@#The median PFS in the CM and WM combination treatment group and the WM group were 19 months (95% CI: 12.357-25.643) vs. 9 months (95% CI: 5.957-12.043), HR=0.43 (95% CI: 0.27-0.69, P<0.001), respectively. The median OS in the CM and WM combination group and the WM group were 34 months (95% CI could not be calculated) vs. 18.63 months (95% CI: 16.425-20.835), HR=0.40 (95% CI: 0.24-0.66, P<0.001), respectively. Similar results were obtained in the further stratified analysis of whether the duration of CM administration exceeded 18 and 24 months (P<0.001).@*CONCLUSION@#The combination treatment of CM and WM with continuing oral administration of CM treatment after the first-line chemoradiotherapy for LS-SCLC patients produced better prognosis, lower risks of progression, and longer survival than the WM treatment alone. (Registration No. ChiCTR2200056616).

Clinical symptoms and distribution characteristics traditional Chinese medicine syndromes of pulmonary nodules / 中国中药杂志

A cross-sectional study method combined with two types of traditional Chinese medicine(TCM) syndrome differentiation methods was adopted to investigate the clinical symptoms and distribution characteristics of TCM syndromes in patients with pulmonary nodules from the perspectives of number, size, nature, and stability of pulmonary nodules by using the χ~2 test, systematic clustering and Apriori algorithm correlation analysis. The common clinical symptoms of pulmonary nodules were fatigue(77.35%) and irritability(75.40%), and 40 symptoms were clustered into 3 groups(digestive system symptoms, respiratory system symptoms, and emotional and systemic symptoms) and 8 major symptom categories. The proportion of cold and heat in complexity syndrome(63.43%) was higher based on cold-heat syndrome differentiation. The top two syndromes were Qi deficiency syndrome(88.03%) and Qi depression syndrome(83.17%) based on disease syndrome differentiation. Yang deficiency syndrome(60.52%) was more than Yin deficiency syndrome(50.16%). There were higher proportions of phlegm syndrome(78.67%) and Yang deficiency syndrome(69.33%) of so-litary pulmonary nodules in terms of the number of pulmonary nodules. In terms of size, the proportion of phlegm syndrome decreased as the mean diameter of pulmonary nodules increased, while the proportions of Yang deficiency syndrome and blood stasis syndrome increased. The distribution of Qi depression syndrome was more in those with mean diameter<10 mm(85.02%, P=0.044) and cold syndrome was more in those with mean diameter ≥10 mm(16.67%, P=0.024). In terms of the nature of pulmonary nodules, the proportions of Qi depression syndrome and heat syndrome decreased with the increase in solid components of pulmonary nodules, while the proportions of Yin deficiency syndrome and cold and heat in complexity syndrome increased. The blood stasis syndrome accounted for a higher proportion of pulmonary nodules with solid components. In terms of the stability of pulmonary nodules, dampness syndrome(72.97%), blood stasis syndrome(37.84%), and cold and heat in complexity syndrome(70.27%) accounted for higher proportions. In addition, patients with new nodules presented higher proportions in Qi inversion syndrome(52.00%, P=0.007) and cold and heat in complexity syndrome(66.00%, P=0.008). Meanwhile, 11 syndromes were associated and 4 common compound syndromes were obtained(Qi deficiency and depression syndrome, Qi depression and phlegm coagulation syndrome, Qi deficiency and phlegm coagulation syndrome, and Qi deficiency and dampness obstruction syndrome). Qi deficiency syndrome and Qi depression syndrome could be associated with other syndromes. The results show that the main clinical symptoms of pulmonary nodules are fatigue and irritability. The main TCM syndromes of pulmonary nodules are Qi deficiency syndrome, Qi depression syndrome, Yang deficiency syndrome, and cold and heat in complexity syndrome. The distribution of TCM syndromes is significantly correlated with the size of pulmonary nodules and the presence or absence of new nodules. The common compound syndromes are Qi deficiency and depression syndrome, Qi depression and phlegm coagulation syndrome, Qi deficiency and phlegm coagulation syndrome, and Qi deficiency and dampness obstruction syndrome.

Effects of astragalus polysaccharides on improvement of liver and kidney injury and regulation of intestinal flora structure in cadmium-exposed rats / 中国药理学通报

Aim To investigate the effects of astragalus polysaccharides on the improvement of liver and kidney injury and the regulation of intestinal flora structure in cadmium exposed rats. Methods Rats exposed to cadmium were established by intraperitoneal injection of CdCl2. After continuous intragastric administration of astragalus polysaccharides for five weeks, urine, liver, kidney and feces were collected. The cadmium residues in urine, liver and kidney were detected by Graphite Furnace Atomic absorption spectrometry, the pathological changes of liver and kidney were observed by HE staining, and Illumina PE250 sequencing and bioinformatics software were used to analyze the structure of intestinal flora. Results After intraperitoneal injection of CdCl2, the accumulation of cadmium in urine, liver and kidney increased significantly, some liver and kidney cells showed pathological damage such as swelling, necrosis and inflammatory cell infiltration. Chao, ace and shannon indexes decreased significantly, while simpson index increased significantly. The number of OTU decreased. And the abundance of Ruminococcus, Bacteroides, Flavonifractor, Roseburia and Elusmicrobium decreased significantly, but Lactobacillus, that of Lachnospiracea_incertae_sedis, Parasutterella, Clostridium XlVb, Clostridium XI, Integinimonas and Fusobacterium increased significantly. Compared with the normal control group, the differences was statistically significant(P<0.05 or P<0.01). After intragastric administration of astragalus polysaccharides, cadmium accumulation in urine, liver and kidney decreased significantly, liver and kidney cell damage alleviated, and inflammatory cell infiltration reduced. Chao, ace and shannon index increased markedly, and simpson index decreased significantly. OTU number increased. And the bundance of Prevotella, Bacteroides, Parasutterella, Elismicrobium and Barnesiella raised significantly, that of Ruminococcus, Oscillibacter, Flavonifractor, Clostridium XlVa, Roseburia, Lactobacillus, Ruminococcus2, Lachnospiracea_incertae_sedis, Clostridium IV, Clostridium XlVb, Clostridium XI and integinimonas decreased significantly, which was statistically significant compared with the group exposed to cadmium alone(P<0.05 or P<0.01). Conclusions Astragalus polysaccharides may improve liver and kidney injury by reducing cadmium accumulation and regulating the structure of intestinal flora in cadmium exposed rats.

Research progress on synthesis, safety, function and mechanism of selenium nanoparticles / 中国药理学通报

As an essential trace element, selenium plays a very important role in antioxidation and maintaining redox homeostasis in various metabolic processes. With the development of nano-technology, selenium nanoparticles ( SeNPs) have become potential biomedical drugs because of their low toxicity, degrad-ability and high bioavailability. With the ability to activate apop-tosis or autophagy by regulating the production of reactive oxygen species ( ROS) , SeNPs are widely used in anticancer therapy and pathogens killing/clearance. In addition, with excellent stability and drug encapsulation capacity, SeNPs are serving as a kind of effective nano-carriers for anti-cancer and anti-infection treatments. Interestingly, the important role of SeNPs in immune regulation ( such as the activation of macrophages and T effector cells) provides a new possibilities to achieve nano-immune syn-ergetic treatment strategy for anti-cancer and anti-infection thera¬pies. In this paper, we review the latest progress of the prepara¬tion methods and safety for SeNPs, followed by the advances of anti-infection, anti-cancer effects and its mechanisms, which would be helpful for promoting the pace of clinical research and application. In addition, we also summarize the functions of SeNPs in other aspects, so as to provide beneficial assistance for facilitating its scientific and clinical research.

Diagnosis status and genetic characteristics analysis of Fanconi anemia in China / 中华儿科杂志

Objective: To analyze the clinical and molecular diagnostic status of Fanconi anemia (FA) in China. Methods: The General situation, clinical manifestations and chromosome breakage test and genetic test results of 107 pediatric FA cases registered in the Chinese Blood and Marrow Transplantation Registry Group (CBMTRG) and the Chinese Children Blood and Marrow Transplantation Registry Group (CCBMTRG) from August 2009 to January 2022 were analyzed retrospectively. Children with FANCA gene variants were divided into mild and severe groups based on the type of variant, and Wilcoxon-test was used to compare the phenotypic differences between groups. Results: Of the 176 registered FA patients, 69 (39.2%) cases were excluded due to lack of definitive genetic diagnosis results, and the remaining 107 children from 15 hospitals were included in the study, including 70 males and 37 females. The age at transplantation treatment were 6 (4, 9) years. The enrolled children were involved in 10 pathogenic genes, including 89 cases of FANCA gene, 7 cases of FANCG gene, 3 cases of FANCB gene, 2 cases of FANCE gene and 1 case each of FANCC, FANCD1, FANCD2, FANCF, FANCJ, and FANCN gene. Compound heterozygous or homozygous of loss-of-function variants account for 69.2% (72/104). Loss-of-function variants account for 79.2% (141/178) in FANCA gene variants, and 20.8% (37/178) were large exon deletions. Fifty-five children (51.4%) had chromosome breakage test records, with a positive rate of 81.8% (45/55). There were 172 congenital malformations in 80 children.Café-au-Lait spots (16.3%, 28/172), thumb deformities (16.3%,28/172), polydactyly (13.9%, 24/172), and short stature (12.2%, 21/172) were the most common congenital malformations in Chinese children with FA. No significant difference was found in the number of congenital malformations between children with severe (50 cases) and mild FANCA variants (26 cases) (Z=-1.33, P=0.185). Conclusions: FANCA gene is the main pathogenic gene in children with FA, where the detection of its exon deletion should be strengthened clinically. There were no phenotypic differences among children with different types of FANCA variants. Chromosome break test is helpful to determine the pathogenicity of variants, but its accuracy needs to be improved.

Report content and prenatal diagnosis of non-invasive prenatal testing for sex chromosome aneuploidy / 中华妇产科杂志

Objective: To analyze the report content, the methods and results of prenatal diagnosis of high risk of sex chromosome aneuploidy (SCA) in non-invasive prenatal testing (NIPT). Methods: A total of 227 single pregnancy pregnant women who received genetic counseling and invasive prenatal diagnosis at Drum Tower Hospital Affiliated to the Medical School of Nanjing University from January 2015 to April 2022 due to the high risk of SCA suggested by NIPT were collected. The methods and results of prenatal diagnosis were retrospectively analyzed, and the results of chromosome karyotype analysis and chromosome microarray analysis (CMA) were compared. The relationship between NIPT screening and invasive prenatal diagnosis was analyzed. Results: (1) Prenatal diagnosis methods for 277 SCA high risk pregnant women included 73 cases of karyotyping, 41 cases of CMA and 163 cases of karyotyping combined with CMA, of which one case conducted amniocentesis secondly for further fluorescence in situ hybridization (FISH) testing. Results of invasive prenatal diagnosis were normal in 166 cases (59.9%, 166/277), and the abnormal results including one case of 45,X (0.4%, 1/277), 18 cases of 47,XXX (6.5%, 18/277), 36 cases of 47,XXY (13.0%, 36/277), 20 cases of 47,XYY (7.2%, 20/277), 1 case of 48,XXXX (0.4%, 1/277), 20 cases of mosaic SCA (7.2%, 20/277), 5 cases of sex chromosome structural abnormality or large segment abnormality (1.8%, 5/277), and 10 cases of other abnormalities [3.6%, 10/277; including 9 cases of copy number variation (CNV) and 1 case of balanced translocation]. Positive predictive value (PPV) for SCA screening by NIPT was 34.7% (96/277). (2) Among the 163 cases tested by karyotyping combined with CMA, 11 cases (6.7%, 11/163) showed inconsistent results by both methods, including 5 cases of mosaic SCA, 1 case of additional balanced translocation detected by karyotyping and 5 cases of additional CNV detected by CMA. (3) NIPT screening reports included 149 cases of "sex chromosome aneuploidy"(53.8%, 149/277), 54 cases of "number of sex chromosome increased" (19.5%, 54/277), and 74 cases of "number of sex chromosome or X chromosome decreased" (26.7%, 74/277). The PPV of "number of sex chromosome increased" and "number of sex chromosome or X chromosome decreased" were 72.2% (39/54) and 18.9% (14/74), respectively, and the difference was statistically significant (χ2=34.56, P<0.01). Conclusions: NIPT could be served as an important prenatal screening technique of SCA, especially for trisomy and mosaicism, but the PPV is comparatively low. More information of NIPT such as the specific SCA or maternal SCA might help improving the confidence of genetic counseling and thus guide clinic management. Multi technology platforms including karyotyping, CMA and FISH could be considered in the diagnosis of high risk of SCA by NIPT.

Correlation between postoperative visual acuity and macular morphological structure and blood flow density in patients with idiopathic macular epiretinal membrane / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To observe the postoperative changes in macular morphological structure and blood flow density of patients with idiopathic macular epiretinal membrane(IMEM)by optical coherence tomography angiography(OCTA), and explore their correlation with visual acuity.METHOD: Prospective study. A total of 45 cases(45 eyes)with IMEM admitted to our hospital from January 2020 to July 2021 were included. The best corrected visual acuity(BCVA), central macular area thickness(CMT), foveal avascular zone(FAZ)area and changes in blood flow density of superficial capillary plexus(SCP)were observed at 1mo, 1, 3 and 6mo before and after operation.RESULT: The BCVA at 1wk after operation had no significant change compared with preoperative data(P>0.05), while it was improved at other time points(P<0.05). The CMT measured at 1wk after operation was thickened significantly(P<0.05), while it was significantly decreased at 1mo, 3mo and 6mo after operation(P<0.05). The FAZ area measured at 1wk and 1mo after operation had no significant change(P>0.05), while it was significantly enlarged at 3 and 6mo after operation(P<0.05). The SCP measured at 1wk, 1 and 3mo after operation had no significant change(P>0.05), while it was significantly decreased at 6mo after operation(P<0.05). BCVA measured at 3 and 6mo after operation was positively correlated with CMT(r=0.457, 0.615, P=0.032, 0.012).CONCLUSION: The visual acuity of patients with IMEM recovered quickly within 1mo after operation, and then it tended to be stable. However, the recovery of macular foveal morphology and blood flow distribution was slower than that of visual acuity, and there was no obvious correlation with visual acuity.

Apalutamide for patients with metastatic castrationsensitive prostate cancer in East Asia: a subgroup analysis of the TITAN trial / 亚洲男科学杂志(英文版)

Ethnicity might be associated with treatment outcomes in advanced prostate cancer. This study aimed to evaluate the efficacy and safety of androgen deprivation therapy (ADT) combined with apalutamide in East Asians with metastatic castration-sensitive prostate cancer (mCSPC). The original phase 3 Targeted Investigational Treatment Analysis of Novel Anti-androgen (TITAN) trial was conducted at 260 sites in 23 countries. This subgroup analysis included patients enrolled in 62 participating centers in China, Japan, and Korea. Radiographic progression-free survival (PFS), time to prostate-specific antigen (PSA) progression, and PSA changes from baseline were compared between groups in the East Asian population. The intent-to-treat East Asian population included 111 and 110 participants in the apalutamide and placebo groups, respectively. The 24-month radiographic PFS rates were 76.1% and 52.3% in the apalutamide and placebo groups, respectively (apalutamide vs placebo: hazard ratio [HR] = 0.506; 95% confidence interval [CI], 0.302-0.849; P = 0.009). Median time to PSA progression was more favorable with apalutamide than placebo (HR = 0.210; 95% CI, 0.124-0.357; P < 0.001). Median maximum percentages of PSA decline from baseline were 99.0% and 73.9% in the apalutamide and placebo groups, respectively. The most common adverse event (AE) was rash in the apalutamide group, with a higher rate than that in the placebo group (37.3% vs 9.1%). The most common grade 3 or 4 AEs were rash (12 [10.9%]) and hypertension (12 [10.9%]) for apalutamide. The efficacy and safety of apalutamide in the East Asian subgroup of the TITAN trial are consistent with the global results.

Substitutes for Endangered Animal Medicinal Materials： A Review / 中国实验方剂学杂志

Endangered animal medicine is an important part of traditional Chinese medicine， which is distinctive in the treatment of diseases. At present， the rare and endangered medicinal materials such as tiger bone， rhinoceros horn， pangolin， antelope horn， bear bile are listed as national key protected animals， so their clinical application is limited， the current solution is mainly based on the ideas and methods of similar pharmacological effects， close genetic relationships， artificial breeding， and artificial synthesis to find and develop alternatives for endangered animal medicinal materials. Although artificially cultured bear bile and musk， and artificially synthesized tiger bone， bezoar and musk can solve the shortage of endangered animal medicines to a certain extent， there are still some problems such as difficult breakthroughs in breeding technology and incomplete recognition in the substitute industry. According to this， based on summarizing the existing substitutes for endangered animal medicines， our group proposed the concept of homology， homogeneity and equivalent of substitutes， and constructed a new idea to develop and evaluate substitutes by combining frontier biotechnology with multi-omics detection， so as to provide some support for protecting rare and endangered animals and solving the shortage of endangered animal medicines.

Rapid Detection of Adulteration of Fritillariae Cirrhosae Bulbus Based on Portable Near Infrared Spectroscopy / 中国实验方剂学杂志

ObjectiveIn order to establish a systematic quality evaluation system for Fritillariae Cirrhosae Bulbus adulteration， portable near-infrared （NIR） spectroscopy was used to identify Fritillariae Cirrhosae Bulbus and its adulterants and detect their adulteration quantity. MethodA total of 72 batches of Fritillariae Cirrhosae Bulbus samples were collected and 570 batches of adulterated products （dry bulbs of Fritillaria thunbergii， F. ussuriensis， F. pallidiflora and F. hupehensis， Bulbus Tulipae， flour） were prepared， NIR spectral data of samples were collected by the portable NIR spectrometer. Linear discriminant analysis （LDA） was used to establish the qualitative correction models of Fritillariae Cirrhosae Bulbus-adulterants and adulterants of different categories， partial least squares （PLS） was used to establish the quantitative correction models of adulteration quantity of different kinds of adulterants. ResultThe recognition rates of qualitative analysis model of Fritillariae Cirrhosae Bulbus and its adulterants were 99.49% （calibration set） and 100.00% （validation set）， respectively. In different adulterant models， the recognition rates of calibration set and validation set were 70.47% and 73.68%， respectively. Moreover， the correlation coefficients of validation set （R2P） of the six quantitative models of adulteration ratio were 0.840 2 （Fritillariae Cirrhosae Bulbus adulterated with F. thunbergii dry bulbs）， 0.960 2 （Fritillariae Cirrhosae Bulbus adulterated with F. ussuriensis dry bulbs）， 0.765 7 （Fritillariae Cirrhosae Bulbus adulterated with F. pallidiflora dry bulbs）， 0.902 5 （Fritillariae Cirrhosae Bulbus adulterated with F. hupehensis dry bulbs）， 0.957 4 （Fritillariae Cirrhosae Bulbus adulterated with Bulbus Tulipae）， 0.976 1 （Fritillariae Cirrhosae Bulbus adulterated with flour）， the root mean square error of prediction （RMSEP） were 10.948 5， 5.463 9， 13.256 4， 8.549 2， 5.655 3， 4.235 6， respectively. The two qualitative models and six quantitative models showed good prediction performance. ConclusionThe portable NIR spectroscopy can be used to identify Fritillariae Cirrhosae Bulbus and its adulterants in real time， the method is rapid and accurate， which can meet the requirements of nondestructive identification of Fritillariae Cirrhosae Bulbus on site.

Clinical effect of different application times of antibiotics in patients with hypertriglyceridemic severe acute pancreatitis / 中华肝胆外科杂志

Objective:To study the clinical effect of different application times of antibiotics in patients with hypertriglyceridemic severe acute pancreatitis(HTG-SAP).Methods:The clinical data of 92 patients with HTG-SAP who were treated at the Department of Critical Care Medicine of the Second Affiliated Hospital of Anhui Medical University from January 2016 to February 2022 were analyzed retrospectively. There were 65 males and 27 females, aged (40.82±10.55) years old. These patients were divided into three groups based on the time of prophylactic use of antibiotics: the early prevention group (used within 72 h after admission, n=39), the delayed prevention group (used after 72 h after admission, n=30) and the nonprevention group ( n=23). The clinical data such as the general data, length of stay and all cause mortality rate of the three groups of patients were analyzed. Results:Compared with patients in the nonprevention group, the incidence rate of pancreatic/peripancreatic infection [10.0%(3/30) vs. 39.1%(9/23)] and the incidence rate of bloodstream infection [6.7%(2/30) vs. 34.8%(8/23)] in the delayed prevention group were significantly decreased (pancreas/peripancreatic infection: χ 2=6.31, P=0.012; bloodstream infection: χ 2=6.72, P=0.010). The infection rate of multiple/pan resistant bacteria in the early prevention group [23.1%(9/39)] was significantly higher than the nonprevention group [4.3%(1/23)] (χ 2=4.49, P=0.034). There were no significant differences in the all cause mortality rate, length of stay, duration of intensive care, hospitalization cost, incidence of intestinal fistula and retroperitoneal hemorrhage, and the proportion of patients requiring surgery among the 3 groups (all P>0.05). Conclusions:Pophylactic use of antibiotics within 72 h of hospital admission significantly reduced the incidence of pancreatic/peripancreatic infection and bloodstream infection in patients with HTG-SAP. There were no significant differences in the final prognosis among these patients with HTG-SAP treated with antibiotics at different times.

The role of extracellular vesicles in human cytomegalovirus infection / 中华检验医学杂志

Extracellular vesicles (EV) are membrane structured vesicles containing proteins, lipids and nucleic acids. EVS produced by virus-infected cells are involved in communication between infected and uninfected cells. EV produced by human cytomegalovirus (HCMV) infected cells can promote the transmission and infection of HCMV and escape the host immune response. It can also activate the body′s immune response against HCMV infection. In-depth study of the mechanism and compositional changes of EV produced by HCMV infected cells will contribute to the prevention, diagnosis, and treatment of HCMV. The current research has achieved some results, but they are not deep enough. Future advancements in EV isolation and identification technologies and the reduction of economic costs will contribute to the extensive development and clinical application of the research.

Echocardiographic evaluation of the domestic D-Shant device for treatment of patients with chronic heart failure / 中华超声影像学杂志

Objective:To evaluate the efficacy of the domestic D-Shant device for the treatment of patients with chronic heart failure (CHF) using echocardiography.Methods:Twenty-four CHF patients who were treated with domestic D-Shant device in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from September 2020 to December 2021 were enrolled in the study. Pulmonary capillary wedge pressure (PCWP)/ left atrial pressure (LAP), right atrial pressure (RAP), pulmonary artery pressure, interatrial septal gradient pressure, cardiac index and pulmonary/systemic blood flow ratio (Qp/Qs) were measured before and after implantation using right heart catheterization.Left atrial end-diastolic area index (LAEDAI), left atrial end-diastolic volume index (LAEDVI), left ventricular end-diastolic volume index (LVEDVI), left ventricular end-systolic volume index (LVESVI), left ventricular ejection fraction (LVEF), right atrial end-diastolic diameter, right ventricular end-diastolic diameter, tricuspid annular plane systolic excursion (TAPSE), right ventricular tractional area change (RVFAC), device shunt aperture, velocity and pressure, together with mitral and tricuspid regurgitation severity were measured using echocardiography before, and 1 month as well as 3 months after D-Shant device implantation. Clinical data were collected and analyzed including 6-minute walking test (6MWT), New York Heart Association (NYHA) classification and the Kansas City Cardiomyopathy Questionnaire (KCCQ). Spearman correlation analysis was used to determine the relation between the changes in PCWP/LAP as well as echocardiographic parameters before and 3 months after implantation and NYHA classification. Binary Logistic regression analysis was performed to determine the predictive factors of NYHA classification improvement at 3-month follow-up after D-Shant device implantation.Results:①D-Shant devices were successfully implanted in all patients. ②Compared with preoperative values, invasive PCWP/LAP systolic, diastolic and mean pressures, transatrial septal gradient, and pulmonary systolic, diastolic and mean pressures decreased significantly after implantation(all P<0.001); Qp/Qs increased significantly after implantation( P<0.001). ③Compared with preoperative values, TAPSE, RVFAC and pulmonary artery flow velocity increased at 1 month after implantation(all P<0.05), whereas a significant reduction in mitral regurgitation grade, and an increase in LVEF and pulmonary artery flow velocity at 3 months after implantation(all P<0.05). Right atrial end-diastolic diameter, right ventricular end-diastolic diameter, LAEDAI, LAEDVI, LVEDVI, LVESVI, ratio of early to late diastolic peak velocities of mitral inflow(E/A), systolic peak velocity of mitral annulus at septal site(S′), ratio of early diastolic peak velocity of mitral inflow to diastolic peak velocity of mitral annulus(E/e′), pulmonary artery diameter, inferior vena cava diameter and degree of tricuspid regurgitation did not change among before, and 1 month as well as 3 months after implantation. There were no significant changes in the device shunt aperture, velocity and pressure between 1 month and 3 months after implantation(all P>0.05). ④The significant improvements in NYHA classification, KCCQ scores and 6MWT were observed at 1 and 3 months after implantation compared with preoperative values (all P<0.01). ⑤NYHA classification at 3 months after implantation was correlated with LVEF pre-post, PCWP/LAP pre-post, TAPSE pre-post and RVFAC pre-post ( rs=0.738, -0.730, 0.738, 0.723; all P<0.001). Logistic regression analysis showed that LVEF pre-post was an independent predictor for NYHA classification improvement at 3 months after implantation ( OR=0.687, 95% CI=0.475-0.992, P=0.045) . Conclusions:Domestic D-Shant device can effectively improve the cardiac function and clinical symptoms in patients with CHF. Echocardiography is a feasible and effective method to evaluate the benefits of domestic D-Shant device for the treatment of CHF.