Background::Programmed death 1 (PD-1) blockade plus chemotherapy has become the new first-line standard of care for patients with advanced non-small-cell lung cancer (NSCLC). Yet not all NSCLC patients benefit from this regimen. This study aimed to investigate the predictors of PD-1 blockade plus chemotherapy in untreated advanced NSCLC.Methods::We integrated clinical, genomic, and survival data from 287 patients with untreated advanced NSCLC who were enrolled in one of five registered phase 3 trials and received PD-1 blockade plus chemotherapy or chemotherapy alone. We randomly assigned these patients into a discovery cohort ( n = 125), a validation cohort ( n = 82), and a control cohort ( n = 80). The candidate genes that could predict the response to PD-1 blockade plus chemotherapy were identified using data from the discovery cohort and their predictive values were then evaluated in the three cohorts. Immune deconvolution was conducted using transcriptome data of 1014 NSCLC patients from The Cancer Genome Atlas dataset. Results::A genomic variation signature, in which one or more of the 15 candidate genes were altered, was correlated with significantly inferior response rates and survival outcomes in patients treated with first-line PD-1 blockade plus chemotherapy in both discovery and validation cohorts. Its predictive value held in multivariate analyses when adjusted for baseline parameters, programmed cell death ligand 1 (PD-L1) expression level, and tumor mutation burden. Moreover, applying both the 15-gene panel and PD-L1 expression level produced better performance than either alone in predicting benefit from this treatment combination. Immune landscape analyses revealed that tumors with one or more variation in the 15-gene panel were associated with few immune infiltrates, indicating an immune-desert tumor microenvironment.Conclusion::These findings indicate that a 15-gene panel can serve as a negative prediction biomarker for first-line PD-1 blockade plus chemotherapy in patients with advanced NSCLC.

Objective:To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease.Methods:A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children′s Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject. Clinical data of his pedigree were collected, and peripheral venous blood samples were collected for the extraction of genomic DNA and subjected to trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing and analyzed with bioinformatic software. This study was approved by the Medical Ethics Committee of Hunan Children′s Hospital (No. KYSQ2022-263).Results:The child had manifested repeated fractures, bilateral bowed femur, osteoporosis, cataract, atrial septal defect, and developmental delay. Ultrasonography has revealed fetal edema, peritoneal effusion, pleural effusion and polyhydramnios. Trio-whole exome sequencing and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XYLT2 gene, namely c. 1103_1104delAG (p.Gln368Argfs*8) and c. 1238_1253delinsA (p.Val413_Pro418delinsGlu), which were inherited from his phenotypically normal father and mother, respectively. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and recommendations from the Clinical Genome Resource (ClinGen), the c. 1103_1104delAG was predicted as a pathogenic variant (PVS1+ PM2_Supporting+ PP4), whilst the c.1238_1253delinsA was predicted as a likely pathogenic variant (PM4+ PM3+ PM2_Supporting+ PP4). Conclusion:The c. 1103_1104delAG and c. 1238_1253delinsA compound heterozygous variants of the XYLT2 gene probably underlay the pathogenesis in this child. Above finding has enriched the phenotypic and mutational spectrum of SOS, and provided a basis for the clinical diagnosis, treatment, prognosis assessment and genetic counseling for this pedigree.

Objective: To analyze the characteristics of influenza virus detection in an influenza outbreak in schools, so as to provide a strategic basis for the treatment of influenza outbreaks in schools. Methods: A total of 1 702 samples were collected from 52 school influenza outbreaks reported in Linyi City in 2021-2022. The samples were divided into 3 types according to different symptoms during the management of the epidemic [group A:influenzalike illness (ILI) group; group B:mild illness group; group C:close contacts group]. Rt-PCR was used to detect influenza virus nucleic acid in the collected samples. The detection rate of influenza virus in the outbreaks was analyzed by χ2 test. Results: In total, 1 071 samples (62.93%) tested positive for influenza virus nucleic acid. Among them, 610 out of 726 samples (84.02%) were detected in group A, while 331 out of 634 samples (52.21%) were detected in group B. In group C, 130 out of 342 samples (38.01%) tested positive. The differences were statistically significant (χ2=260.71, P<0.01). In group A, males had a detection rate of 80.83% for influenza virus nucleic acid, compared to 91.36% for females. For group B, the rates were 53.31% for males and 50.87% for females. In group C, males had a rate of 30.72%, while females had a rate of 43.92%. Statistical significance for gender differences was observed only in groups A and C (χ2=12.67, 6.25, P<0.05). According to the days of onset, the detection rates of influenza virus nucleic acid among patients with onset 0-6 days were 56.30%, 74.49%, 89.35%, 86.23%, 69.67%, 62.75%, 34.33%, respectively, and the difference was statistically significant (χ2=128.27, P<0.01). Conclusions Mild cases and close contacts are likely key factors contributing to the prolonged emergence of new cases within classrooms during school influenza outbreaks. The progression of influenza symptoms is related to the risk of transmission.

Humans ; Aminoquinolines/therapeutic use* ; Carcinoma, Non-Small-Cell Lung/genetics* ; Lung Neoplasms/genetics* ; Mutation/genetics* ; Standard of Care

Animals ; Antibodies, Neutralizing/biosynthesis* ; Antibodies, Viral/biosynthesis* ; Body Weight/immunology* ; COVID-19/virology* ; Disease Models, Animal ; Disease Progression ; Humans ; Immunohistochemistry ; Lung/virology* ; Male ; Mesocricetus ; Nasal Cavity/virology* ; RNA, Viral/immunology* ; SARS-CoV-2/pathogenicity* ; Severity of Illness Index ; Viral Load

Objectives:To evaluate the role of pancreas multidisciplinary team(MDT) clinic in the diagnosis of pancreatic diseases,patient compliance with MDT advice,and the impact of MDT on the postoperative survival of patients with pancreatic cancer.Methods:The study included 927 patients(554 males,373 females,aged (58.1±13.3)years (range: 15 to 89 years)) that had visited the pancreas MDT clinic of Zhongshan Hospital from May 2015 to December 2021,and 677 patients(396 males, 281 females, aged (63.6±8.9)years(range: 32 to 95 years)) who underwent radical surgery and with pathologically confirmed pancreatic adenocarcinoma from January 2012 to December 2020,of whom 79 patients had attended the pancreas MDT. The clinical and pathological data were collected and analyzed retrospectively. Diseases were classified in accordance with 2010 WHO classification of tumors of the digestive system and usual clinical practices. The Kaplan-Meier method was used for drawing the survival curve and calculating the survival rate. The univariate analysis was done by Log-rank test and the multivariate analysis was done by COX proportional hazards model. Survival rates were compared using χ 2 test. Results:Among the 927 patients that had visited the MDT clinic,233 patients(25.1%) were referred due to undetermined diagnosis. A direct diagnosis was made in 109 cases (46.8%,109/233) by the MDT clinic, of which 98 were consistent with the final diagnosis,resulting in an accuracy of 89.9%(98/109). The direct diagnosis rate in the recent years(36.6%(41/112),from June 2019 to December 2021) decreased compared to that in the previous years(56.2%(68/121),from May 2015 to May 2019),yet the accuracy in the recent years(90.2%,37/41) was basically the same as before (89.7%,61/68). The rate of compliance of the entire cohort was 71.5%(663/927), with the compliance rate in the recent two and a half years(81.4%,338/415) remarkably higher than that in the previous four years(63.4%,325/512). Patients with pancreatic cancer that attended the MDT exhibited a trend toward longer median postoperative survival than patients that did not attend the MDT,but the difference was not statistically significant(35.2 months vs.30.2 months, P>0.05). The 1-year and 3-year survival rates of patients that attended the MDT were significanly higher than patients that did not attend the MDT(88.6% vs. 78.4%, P<0.05;32.9% vs. 21.9%, P<0.05,respectively),but the 5-year survival rate was not statistically different(7.6% vs. 4.8%, P>0.05). Conclusions:The pancreas MDT clinic is an accurate and convenient way to diagnose intractable pancreatic diseases,and in the recent years the patients′ compliance rate with MDT advice has increased. Pancreatic cancer patients that have attended the MDT have higher 1-year and 3-year postoperative survival rates,but the long-term survival benefits of MDT still needs to be proved by clinical studies on a larger scale.

Objectives:To evaluate the role of pancreas multidisciplinary team(MDT) clinic in the diagnosis of pancreatic diseases,patient compliance with MDT advice,and the impact of MDT on the postoperative survival of patients with pancreatic cancer.Methods:The study included 927 patients(554 males,373 females,aged (58.1±13.3)years (range: 15 to 89 years)) that had visited the pancreas MDT clinic of Zhongshan Hospital from May 2015 to December 2021,and 677 patients(396 males, 281 females, aged (63.6±8.9)years(range: 32 to 95 years)) who underwent radical surgery and with pathologically confirmed pancreatic adenocarcinoma from January 2012 to December 2020,of whom 79 patients had attended the pancreas MDT. The clinical and pathological data were collected and analyzed retrospectively. Diseases were classified in accordance with 2010 WHO classification of tumors of the digestive system and usual clinical practices. The Kaplan-Meier method was used for drawing the survival curve and calculating the survival rate. The univariate analysis was done by Log-rank test and the multivariate analysis was done by COX proportional hazards model. Survival rates were compared using χ 2 test. Results:Among the 927 patients that had visited the MDT clinic,233 patients(25.1%) were referred due to undetermined diagnosis. A direct diagnosis was made in 109 cases (46.8%,109/233) by the MDT clinic, of which 98 were consistent with the final diagnosis,resulting in an accuracy of 89.9%(98/109). The direct diagnosis rate in the recent years(36.6%(41/112),from June 2019 to December 2021) decreased compared to that in the previous years(56.2%(68/121),from May 2015 to May 2019),yet the accuracy in the recent years(90.2%,37/41) was basically the same as before (89.7%,61/68). The rate of compliance of the entire cohort was 71.5%(663/927), with the compliance rate in the recent two and a half years(81.4%,338/415) remarkably higher than that in the previous four years(63.4%,325/512). Patients with pancreatic cancer that attended the MDT exhibited a trend toward longer median postoperative survival than patients that did not attend the MDT,but the difference was not statistically significant(35.2 months vs.30.2 months, P>0.05). The 1-year and 3-year survival rates of patients that attended the MDT were significanly higher than patients that did not attend the MDT(88.6% vs. 78.4%, P<0.05;32.9% vs. 21.9%, P<0.05,respectively),but the 5-year survival rate was not statistically different(7.6% vs. 4.8%, P>0.05). Conclusions:The pancreas MDT clinic is an accurate and convenient way to diagnose intractable pancreatic diseases,and in the recent years the patients′ compliance rate with MDT advice has increased. Pancreatic cancer patients that have attended the MDT have higher 1-year and 3-year postoperative survival rates,but the long-term survival benefits of MDT still needs to be proved by clinical studies on a larger scale.

In vitro diagnosis (IVD) is an important source of clinical diagnostic information, and provides an important decision basis for disease prevention, diagnosis and treatment. IVD is a necessary tool for promoting graded diagnosis and treatment, realizing precision medicine, constructing a "Healthy China" and responding to major public health emergencies. Combining the great progress made in the development of in vitro diagnostics in China and the shortcomings and weaknesses faced by it, this article analyzed the demand for IVD, policy support, technical and industrial development trends, and the ways to accelerate the industrialization development, aiming to promote the development and improvement of IVD in China.

Objective:To explore the association between different paths of diabetic progression and dyslipidemia in a Nanjing adult population.Methods:From January 2017 to June 2018, 61, 098 local residents aged ≥18 years were selected from the Chronic Disease and Risk Factor Surveillance database in Nanjing using a five-stage stratified cluster random sampling method. Data were collected through interview surveys, physical measurements, and laboratory examinations. The relationship between different rates of diabetic progression and dyslipidemia was analyzed using complex weighting and multilevel models.Results:In all, 60, 283 participants were finally enrolled in the study. The weighted proportions of normal glucose regulation, pre-diabetes, and diabetes were 71.2%, 17.9%, and 10.9%, respectively. The overall weighted prevalence, awareness, treatment, and control of dyslipidemia were 29.8%, 41.6%, 28.9%, and 22.9%, respectively. The weighted proportion of patients with dyslipidemia combined with diabetes was 52.9%. The weighted prevalence of dyslipidemia in adults with normal glucose regulation, pre-diabetes, and diabetes was 24.0%, 38.8%, and 52.9%, respectively (all P<0.001). Compared to the normal glucose regulation group, subjects with pre-diabetes ( OR = 2.04, 95% CI: 1.95-2.13) or diabetes ( OR= 3.87, 95% CI: 3.66-4.10) had possibly gradually increased risks of dyslipidemia (all P<0.001). In addition, there was an increasing trend toward awareness, treatment, and control of dyslipidemia with increasing levels of glucose (all P<0.001). The weighted awareness of dyslipidemia in adults with normal glucose regulation, pre-diabetes, and diabetes was 36.3%, 42.8%, and 56.2%, respectively; the corresponding rates of treatment and control were 23.7%, 29.2%, and 43.7%, and 20.4%, 22.6%, and 30.1%, respectively. Conclusion:Diabetes and dyslipidemia have become the main chronic diseases in the Nanjing population.

Objective:To investigate the effect of biological long stem hemiarthroplasty on postoperative hip joint function, serum bone markers, angiotensin Ⅱ (Ang Ⅱ) and cortisol (Cor) levels in elderly patients with intertrochanteric fractures.Methods:A total of 120 elderly patients with intertrochanteric fractures in General Hospital of Northern Anhui Coal and Power Group from June 2017 to June 2019 were selected. According to the principle of non-randomized clinical concurrent controlled study and patient′s voluntariness, they were divided into arthroplasty group and internal fixation group, with 60 cases in each group. Proximal femoral nail antirotation (PFNA) was used in the internal fixation group, and the biological long stem hemiarthroplasty was performed in the arthroplasty group. The related indexes of perioperative operation and complications, the levels of serum AngⅡ and Cor before and after operation, the levels of serum bone markers osteocalcin (OC), calcitonin (CT), alkaline phosphatase (ALP) before and after operation were compared between the two groups. After followed up for 6 months after the operation, Harris hip function score and Barthel index (BI) score, quality of life score (GQOL-74) before and after operation, and the excellent and good rate of hip joint function at 6 months after operation were compared between the two groups.Results:The time of getting out of bed in the arthroplasty group was shorter than that in the internal fixation group, the operation time was longer than that in the internal fixation group, and the amount of blood loss and postoperative drainage were higher than those in the internal fixation group, and the differences were statistically significant ( P<0.05). The postoperative complication rate in the arthroplasty group was lower than that in the internal fixation group: 8.33%(5/60) vs. 25.00%(15/60), and the difference was statistically significant ( χ2 = 6.000, P<0.05). The levels of serum AngⅡ and Cor in the two groups were higher than those before the operation at the 1st and 3rd day after the operation, but the levels of serum AngⅡ and Cor in the arthroplasty group were also higher than those in the internal fixation group: at the 1st day after the operation: (218.68 ± 42.04) mmol/L vs. (158.19 ± 34.36) mmol/L, (327.15 ± 39.08) μg/L vs. (285.42 ± 34.06) μg/L; at the 3rd day after the operation: (169.46 ± 32.73) mmol/L vs. (138.02 ± 25.97) mmol/L, (294.83 ± 33.95) μg/L vs. (262.64 ± 30.57) μg/L, and the differences were statistically significant ( P<0.05). The levels of serum OC, CT, and ALP in the two groups at 1 month and 3 months after operation were higher than those before the operation, the levels of serum OC, CT, and ALP in the arthroplasty group were higher than those in the internal fixation group: at 1 month after operation: (17.40 ± 4.25) μg/L vs. (14.96 ± 3.79) μg/L, (1.34 ± 0.49) ng/L vs. (1.15 ± 0.43) ng/L, (159.49 ± 19.75) U/L vs. (137.24 ± 17.28) U/L; at 3 months after operation: (19.18 ± 5.79) μg/L vs. (16.24 ± 4.36) μg/L, (1.46 ± 0.57) ng/L vs. (1.24 ± 0.50) ng/L, (180.94 ± 22.42) U/L vs. (163.72 ± 19.36) U/L, and the differences were statistically significant ( P<0.05). TheHarris hip function scores at 1, 3 and 6 months after the operation in the two groups were higher than those before the operation, the Harris hip function scoresin the arthroplasty group were higher than those in the internal fixation group, and the differences were statistically significant ( P<0.05). The excellent and good rate of hip joint function at 6 months after operation in the arthroplasty group was higher than that in the internal fixation group: 90.00%(54/60) vs. 75.00%(45/60), and the difference was statistically significant ( χ2 = 4.675, P<0.05). The scores of BI, GQOL-74 at 1, 3, 6 months after operation in the two groups were higher than those before operation, the scores of BI, GQOL-74 at 1, 3, 6 months after operation in the arthroplasty group were higher than those in the internal fixation group, the differences were statistically significant ( P<0.05). Conclusions:Compared with PFNA internal fixation, the treatment of elderly patients with femoral intertrochanteric fracture with biological long stem hemiarthroplasty can promote the recovery of patients, reduce complications, reduce the impact on bone markers, and more effectively improve the patient′s hip joint function, ability of daily living and quality of life, but it is more traumatic to the body and has a strong stress response.