Construction of risk factors for autologous arteriovenous fistula failure in 120 patients with chronic kidney disease stage 4 to 5 maintenance hemodialysis and prevention strategies / 中国医师进修杂志

Objective:To explore the risk factors and prevention strategies for autologous arteriovenous fistula failure in 120 maintenance hemodialysis (MHD) patients, and build a regression model.Methods:The clinical data of 120 patients received MHD treatment in Anji County People′s Hospital from January 2020 to February 2022 were retrospectively analyzed, and the selected patients were divided into the failure group (25 cases) and the patency group (95 cases) according to whether they had autologous arteriovenous fistula failure. The clinical data of the two groups were compared. Multivariate Logistic regression analysis method was used to analyze the risk factors of autologous arteriovenous fistula failure in MHD patients. And a Logistic regression model was established to analyze the predictive value.Results:The proportions of women, diabetes and temporary catheter dialysis patients in the failure group were higher than those in the patency group: 56.00% (14/25) vs. 33.68% (32/95), 44.00% (11/25) vs. 13.68% (13/95), 92.00% (23/25) vs. 65.26% (62/95); the time of catheterization, plasma parathyroid hormone, serum albumin (Alb), D-Dimer (D-D), fibrinogen (FIB) and phosphorus were higher than those in the patency group: (47.87 ± 18.43) d vs. (39.65 ± 16.58) d, (439.76 ± 23.45) ng/L vs. (354.54 ± 31.26) ng/L, (43.43 ± 2.54) g/L vs. (39.65 ± 2.31) g/L, (1.13 ± 0.32) mg/L vs. (0.23 ± 0.07) mg/L, (5.64 ± 2.14) g/L vs. (2.76 ± 0.76) g/L, (3.54 ± 1.02) mmol/L vs. (0.76 ± 0.05) mmol/L( P<0.05). The results of multivariate Logistic regression analysis showed that female, concomitant diabetes, temporary catheter dialysis, and high level of serum phosphorus were independent risk factors for autologous arteriovenous fistula failure in MHD patients ( OR = 2.654, 3.077, 3.721, 2.646; P<0.05). Regression equation model was: logit( P) = -12.763 + sex × 0.976 + diabetes × 1.124 + temporary catheter dialysis × 1.314 + level of blood phosphorus × 0.973. When Logistic ( P) > 18.542, the area under the curve (AUC) value for autologous arteriovenous fistula failure prediction in this model was 0.882 (95% CI from 0.811 to 0.934), and with sensitivity of 80.00%, and specificity of 83.16%. Conclusions:Female gender, diabetes mellitus, temporary catheter dialysis, and high blood phosphorus level were independent risk factors for autologous arteriovenous fistula failure in patients with MHD. The model had a good predictive value for failure of autologous arteriovenous fistula in patients with MHD. Corresponding treatment and intervention measures could be used for patients with the above conditions in order to reduce the risk of autologous arteriovenous fistula failure and improve the treatment effect.

Influence of Pre-treatment Lymphocyte/Monocyte Ratio and Neutrophil/Lymphocyte Ratio on the Prognosis of Patients with Extranodal NK/T-Cell Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To explore the influence of lymphocyte-to-monocyte ratio (LMR) and neutrophil-to-lymphocyte ratio (NLR) on the prognosis of patients with extranodal NK/T cell lymphoma (ENKTL).@*METHODS@#The clinical data of 203 patients with ENKTL admitted to the First Affiliated Hospital of Zhengzhou University from January 2011 to January 2020 were retrospectively analyzed. The ROC curve determined the limit values of LMR and NLR; Categorical variables were compared using a chi-square test, expressed as frequency and percentage (n,%). Continuous variables were expressed as medians and extremes and compared with the Mann-Whitney U test; Progression-free survival (PFS) and overall survival (OS) of different grouped LMR and NLR patients were analyzed using Kaplan-Meier curves and compared with log-rank tests. The COX proportional risk regression model was used to perform one-factor and multi-factor analysis of PFS and OS.@*RESULTS@#The optimal critical values of LMR and NLR were determined by the ROC curve, which were 2.60 and 3.40, respectively. LMR≤2.60 was more likely to occur in patients with bone marrow invasion (P=0.029) and higher LDH (P=0.036), while NLR≥3.40 was more likely to occur in patients with higher ECOG scores (P=0.002), higher LDH (P=0.008), higher blood glucose (P=0.024), and lower PLT (P=0.010). Kaplan-Meier survival analysis showed that PFS and OS of patients in the high LMR group were significantly better than the low LMR group, while PFS and OS in the low NLR group were significantly better than the high NLR group. The results of multivariate COX analysis showed that EBV-DNA positive (P=0.047), LMR≤2.60 (P=0.014), NLR≥3.40 (P=0.023) were independent risk factors affecting PFS in patients with ENKTL. LMR≤2.60 (P<0.001), NLR≥3.40 (P=0.048), and high β2-MG (P=0.013) were independent risk factors affecting OS in patients with ENKTL.@*CONCLUSION@#Low LMR and high NLR before treatment are associated with poor prognosis in patients with ENKTL, which also can be used as an easily testable, inexpensive, and practical prognostic indicator in the clinic.

Genetic analysis of two children with developmental delay and intellectual disability / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of two patients with developmental delay and intellectual disability.@*METHODS@#Two children who were respectively admitted to Henan Provincial People's Hospital on August 29, 2021 and August 5, 2019 were selected as the study subjects. Clinical data were collected, and array comparative genomic hybridization (aCGH) was carried out on the children and their parents for the detection of chromosomal microduplication/microdeletions.@*RESULTS@#Patient 1 was a 2-year-and-10-month female and patient 2 was a 3-year-old female. Both children had featured developmental delay, intellectual disability, and abnormal findings on cranial MRI. aCGH revealed that patient 1 has harbored arr[hg19] 6q14.2q15(84621837_90815662)×1, a 6.19 Mb deletion at 6q14.2q15, which encompassed ZNF292, the pathogenic gene for Autosomal dominant intellectual developmental disorder 64. Patient 2 has harbored arr[hg19] 22q13.31q13.33(46294326_51178264)×1, a 4.88 Mb deletion at 22q13.31q13.33 encompassing the SHANK3 gene, haploinsufficiency of which can lead to Phelan-McDermid syndrome. Both deletions were classified as pathogenic CNVs based on the guidelines of American College of Medical Genetics and Genomics (ACMG) and were not found in their parents.@*CONCLUSION@#The 6q14.2q15 deletion and 22q13-31q13.33 deletion probably underlay the developmental delay and intellectual disability in the two children, respectively. Haploinsufficiency of the ZNF292 gene may account for the key clinical features of the 6q14.2q15 deletion.

Prenatal genetic analysis of a fetus with Miller-Dieker syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for fetus with bilateral lateral ventriculomegaly.@*METHODS@#Fetus umbilical cord blood and peripheral blood samples of its parents were collected. The fetus was subjected to chromosomal karyotyping, whilst the fetus and its parents were subjected to array comparative genomic hybridization (aCGH). The candidate copy number variation (CNV) were verified by qPCR, Application goldeneye DNA identification system was used to confirm the parental relationship.@*RESULTS@#The fetus was found to have a normal karyotype. aCGH analysis indicated that it has carried a 1.16 Mb deletion at 17p13.3, which partially overlapped with the critical region of Miller-Dieker syndrome (MDS), in addition with a 1.33 Mb deletion at 17p12 region, which is associated with hereditary stress-susceptible peripheral neuropathy (HNPP). Its mother was also found to harbor the 1.33 Mb deletion at 17p12. qPCR analysis confirmed that the expression levels of genes from the 17p13.3 and 17p12 regions were about the half of that in the normal control, as well as the maternal peripheral blood sample. Parental relationship was confirmed between the fetus and its parents. Following genetic counseling, the parents has chosen to continue with the pregnancy.@*CONCLUSION@#The fetus was diagnosed with Miller-Dieker syndrome due to the de novo deletion at 17p13.3. Ventriculomegaly may be an important indicator for prenatal ultrasonography in fetuses with MDS.

Clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (MICPCH).@*METHODS@#Two children with MICPCH who were presented at the Henan Provincial People's Hospital between April 2019 and December 2021 were selected as the study subjects. Clinical data of the two children were collected, along with peripheral venous blood samples of them and their parents, and amniotic fluid sample of the mother of child 1. Whole exome sequencing (WES), array-comparative genomic hybridization (aCGH) and real-time quantitative PCR (qPCR) were carried out for the children, their parents and the fetus. The pathogenicity of candidate variants were evaluated.@*RESULTS@#Child 1 was a 6-year-old girl featuring motor and language delay, whilst child 2 was a 4.5-year-old girl mainly featuring microcephaly and mental retardation. WES revealed that child 2 has harbored a 158.7 kb duplication in Xp11.4 (chrX: 41446160_41604854), which has encompassed exons 4~14 of the CASK gene. The same duplication was not found in either of her parents. aCGH revealed that child 1 has harbored a 29 kb deletion at Xp11.4 (chrX: 41637892_41666665), which encompassed exon 3 of the CASK gene. The same deletion was not found in either of her parents and the fetus. The above results were confirmed by qPCR assay. Above deletion and duplication were not found in the ExAC, 1000 Genomes and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PS2+PM2_Supporting).@*CONCLUSION@#The deletion of exon 3 and duplication of exons 4~14 of the CASK gene probably underlay the pathogenesis of MICPCH in these two children, respectively.

Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.@*METHODS@#Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.@*RESULTS@#The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.@*CONCLUSION@#The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.

Application of LASSO and its extended method in variable selection of regression analysis / 中华预防医学杂志

Multicollinearity is an important issue affecting the results of regression analysis. LASSO developed in recent years has great advantages in selecting explanatory variables, processing high-dimensional data, and solving multicollinearity problems. This method adds a penalty term to the model estimation, which can compress the regression coefficients of some unnecessary variables to zero and then remove them from the model to achieve the purpose of variable screening. This paper focuses on the LASSO method and compares it with optimal subsets, ridge regression, adaptive LASSO, and elastic net results. It is found that both LASSO and adaptive LASSO have good performance in solving independent variable multicollinearity problems and enhancing model interpretation and prediction accuracy.

Effect of Wuqinxi on the psychological state and prefrontal oxygenated hemoglobin of female college students with subliminal depression / 中国学校卫生

Objective@#To observe the effect of dynamic and static combination of Wuqinxi on the psychological state and prefrontal oxygenated hemoglobin of female college students with subliminal depression (SD), so as to provide a high quality reference for optimizing their interventional measures.@*Methods@#A total of 72 female college students with SD in their third year of two semesters in the 2021-2022 academic year of Chongqing Second Normal University were randomly divided into a control group, an observation group 1, and an observation group 2. The control group received routine psychological intervention once a week, 20 minutes/time, while the observation group 1 received Wuqinxi exercise twice a day for about 30 minutes on the basis of the control group. The observation group 2 received a combination of dynamic and static Wuqinxi exercise on the basis of the control group, Wuqinxi dynamic exercise combined with Wuqinxi exercise guided imagination training about 20 minutes/time. All three groups received 12 weeks of intervention. Observe the Chinese version of the Hamilton Depression Scale (HAMD-24), Subthreshold Depression Scale (STDS), and Symptom Checklist-90 (SCL-90) before and after intervention, and collect serum γ aminobutyric acid (GABA) and plasma adrenocor ticotropic hormone (ACTH), and the concentration of oxyhemoglobin (Oxy Hb) in the prefrontal lobe were detected by functional near infrared spectroscopy (fNIRS).@*Results@#The results showed that the HAMD-24 and STDS scores of the two groups (11.33±1.29, 53.08±2.31) were lower than those of the control group and observation group 1 (18.27± 2.02 , 73.60±4.05; 15.19±1.92, 64.58±2.69), with statistically significant differences ( F=8.64, 11.85, P <0.05). Observing that the six dimensions of somatization, interpersonal, depression, anxiety, hostility psychoticism in the SCL-90 scale were lower in the two groups than in the other two groups ( F=3.68, 9.83, 10.37, 5.85, 3.05, 7.46, P <0.05). The plasma ACTH levels in the observation group were lower than those in the other two groups, while the peak concentration of Oxy Hb was higher than those in the other two groups ( F =3.27, 6.08, P <0.05). The serum GABA levels were higher than those in the control group, and there was no difference compared to the observation group 1 ( P >0.05).@*Conclusion@#The combination of dynamic and static Wuqinxi training can improve the psychological state of female college students with subthreshold depression, alleviate the depressive symptoms,possibly through increase of prefrontal oxygenated hemoglobin.

Analysis of individual dose monitoring results for radiation workers in Shandong province from 2016 to 2020 / 中华放射医学与防护杂志

Objective:To summarize the levels of individual dose to radiation workers in Shandong province from 2016 to 2020, and to analyze the trends in their change in order to provide scientific basis for radiation workers′ health management.Methods:The experimental detection and quality control were carried out in compliance with the national standards Specifications for individual monitoring of occupational external exposure (GBZ 128-2019) and the Testing criteria of personnel dosimetry performance for external exposure (GBZ 207-2016). The result of the personal dose monitoring of occupational external exposure of all radiation workers monitored by the Centers for Disease Control and Prevention in 16 cities of Shandong province were retrospectively analyzed by using SPSS 23.0 software.Results:The total number of monitored workers were 25 523 with an average annual individual effective dose of 0.28 mSv. There were statistically significant differences among radiation workers in different years ( H= 2 815.91, P<0. 001). The average annual individual effective dose showed an upward trend followed by a downward trend. The average annual effective dose of 0.55 mSv for nuclear medicine radiation workers in medical applications was the highest, with statistically significant differences among different occupational radiation workers ( H=310.37, P<0.001). The average annual effective dose of 0.37 mSv for radioactivity logging workers in industrial applications was the highest, with statistically significant differences among different occupational radiation workers ( H=448.07, P<0. 001). The average annual effective dose to radiation workers in medical applications was higher than in industrial applications ( Z = -14.93, P<0.001). Conclusions:The average annual effective dose to nuclear medicine radiation workers in medical applications and logging radiation workers in industrial applications are relatively high. There would be a push to furthe improve workplace protection measures and strengthen the management and supervision of radiological workers.

Effect of health education based on theory of planned behavior combined with stepped care model on patients with lung cancer undergoing chemotherapy / 中国实用护理杂志

Objective:To explore the effect of health education based on theory of planned behavior combined with stepped care model on negative emotion, psychological flexibility and quality of life in patients with lung cancer undergoing chemotherapy.Methods:From October 2020 to December 2021, 108 chemotherapy patients who underwent lung cancer surgery in Affiliated Hospital of Weifang Medical College and had anxiety or depression that scores was greater than 7 in any dimension of the Hospital Anxiety and Depression Scale (HADS) were selected as the study subjects. The study subjects were divided into observation group ( n=46) and control group ( n=48) by random digits table method. Routine care was implemented in the control group. The observation group implemented health education based on the theory of planned behavior combined with stepped care model intervention. The HADS scale was used every 4 weeks to assess negative emotion in both groups. In observation, patients with negative emotion relief stop the next stage of nursing intervention, and patients without relief continue the next stage of higher intensity nursing intervention. Results:Before the intervention, there were no significant difference in the scores of negative emotion, psychological flexibility and quality of life between the two groups ( P>0.05). After intervention, the scores of all dimensions of negative emotion and the total score in the observation group were significantly lower than those in the control group, and the differences had statistical significance ( t=4.86, 3.19 and 4.53, all P<0.05). After the intervention the scores of psychological flexibility and quality of life dimensions and the total score in the observation group were higher than those in the control group, the differences had statistical significance (t values were -6.01--2.89, all P<0.05). After the intervention, there was no significant difference in the remission rate of negative emotions between the clinical observation stage of the observation group and the concurrent control group ( P>0.05). The remission rates of guided self-help, problem-solving therapy, psychological or drug therapy and total negative emotions in the observation group were 38.46%(15/39), 33.33%(8/24), 6/16 and 78.26%(36/46), respectively, which were higher than those in the control group, and the differences had statistical significance ( χ2 values were 7.04 - 13.80, all P<0.05). Conclusions:Health education based on the theory of planned behavior combined with stepped care model can effectively alleviate the negative emotions of lung cancer patients undergoing chemotherapy and improve psychological flexibility and quality of life.

Expression and Significance of PD-1, PD-L1 and PD-L2 in T Cell Subsets and Myeloma Cells in Newly Diagnosed Multiple Myeloma Patients / 肿瘤防治研究

Objective To investigate the expression of PD-1 and PD-L1/2 in T cell subsets and myeloma cells in the bone marrow from newly diagnosed multiple myeloma (NDMM) patients and their relation with clinical features. Methods We collected the bone marrow and clinical data of 22 NDMM patients and 18 cases of healthy controls. We sorted CD4+T cells, CD8+T cells and myeloma cells by flow cytometry, and observed the expression of PD-1 and PD-L1/2. Results Compared with the control group, the proportion of CD8+T cells in the NDMM group was significantly higher, while the ratio of CD4+/CD8+ was significantly lower (both P < 0.05). The expression levels of PD-1 and PD-L2 in CD4+T cells in the NDMM group were significantly higher than those in the control group (both P < 0.05). The expression levels of PD-1, PD-L1 and PD-L2 in T cell subsets and myeloma cells of NDMM patients were not correlated with the gender, age, immune typing, Durie-Salmon stage and subtypes, ISS stage or mSMART3.0 stratification (both P > 0.05). Conclusion Most of MM patients suffering immune abnormality, which may be associated with the mutual immunosuppressive effects between T lymphocytes and plasma cells which expressing PD-1 and PD-L1/2.

Current status of application of resources on medical exposure in Dongying, China / 中国辐射卫生

@#<b>Objective</b> To investigate the current status of application of resources on medical exposure in Dongying, China, and to provide fundamental data for setting up the health information management system of occupational radiation diseases and implementing health supervision and management strategies. <b>Methods</b> According to the requirements of monitoring program on radiation health of Dongying in 2021, a general survey was carried out in all medical institutions (other than dental clinics) providing radiodiagnosis and radiotherapy services by the field investigation method using the unified questionnaires and survey content, and a descriptive analysis was conducted on the results. <b>Results</b> There were 92 institutions of radiodiagnosis and radiotherapy in Dongying, 1112 radiation workers who accounted for 5.9% of all workers on duty, including 679 (61.1%) males and 433 (38.9%) females, and 364 pieces of radiation equipment, including 339 for X-ray diagnosis, 8 for radiotherapy, 2 for nuclear medicine, and 15 for interventional radiology. The allocation of personal protective equipment for interventional radiology staff in tertiary hospitals was higher than that in secondary hospitals, in which there were 0.36 and 0.23 pieces of lead-rubber aprons, 0.43 and 0.30 pieces of lead-rubber hats, 0.50 and 0.35 pieces of lead-rubber collars, 0.05 and 0 pairs of lead-rubber gloves, and 0.31 and 0.17 pairs of lead protection glasses per capita, respectively. The allocation rates of lead-rubber collars and lead protection glasses in the nuclear medicine staff were higher than those in the interventional radiology staff, with 0.63 collars and 0.88 pairs per capita, respectively. The annual frequency of medical exposure was calculated to be 864.3 person-times per 1000 population for radiodiagnosis and 5.2 patients per 1000 population for radiotherapy. <b>Conclusion</b> The allocation and application of resources on medical exposure in Dongying is unbalanced, so it is demanded to set up a health information management system of occupational radiation diseases for continuously mastering the application of medical exposure and adopting differentiated regulatory measures such as rating classification in Dongying.

Genetic analysis of 21 fetuses with high suspicion of congenital skeletal malformation by prenatal ultrasound / 中华围产医学杂志

Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.

Identification and analysis of anovel variant of TRAPPC2 in a X-linked spondyloepiphyseal dysplasia tarda pedigree / 中华骨科杂志

Objective:To provide experimental evidence for genetic counseling and prenatal diagnosis by analyzing the clinical characteristics, screening and identification of the function of suspicious variants in a X-1inked spondyloepiphyseal dysplasia tarda (SEDT) family.Methods:The family members' medical history, general physical examination, femur, spine X-ray examination were collected. Peripheral blood samples of the family members were collected and DNA was extracted from these samples. Sequencing clinical whole exons of proband DNA by targeted gene high-throughput sequencing method, then analysis sequencing data. The suspicious mutation was confirmed in pedigree members by PCR and Sanger sequencing. Reverse transcription polymerase chain reaction (RT-PCR) experiments of total RNA from blood lymphocytes were performed. The amplification of exons 3 and 4 of the pathogenic gene were amplified and identified by agarose gel. The expression of the pathogenic gene was also detected.Results:Three affected males of the family were diagnosed with SEDT according to their clinical and radiological features. A nonsense mutation in the transport protein particle complex subunit 2 ( TRAPPC2) gene NM_001011658: c.91A>T (p.K31*) was found in the proband using whole exome sequencing. This variation was also detected in his cousin, but not in non-phenotypic members of the family. The RT-PCR result for amplification of exon 3 and 4 of peripheral blood lymphocytes was the same as those of normal controls, indicating that the mutation did not affect the splicing of transcripts. qPCR results showed that the transcriptional expression of TRAPPC2 in patients was significantly lower than that in family normal controls and normal people controls. Conclusion:Identification of the novel nonsense mutation (c.91A>T) in the SEDT family enables early patients screening, carrier detection, genetic counseling, prenatal diagnosis, and clinical prevention and treatment. The detailed genotype/phenotype descriptions contribute to the SEDT mutation spectrum. The study of the function of TRAPPC2 mutation will help to further elucidate the role of sedlin in cartilage.

Suppression of HMGB1 inhibits neuronal autophagy and apoptosis to improve neurological deficits in rats following intracerebral hemorrhage / 南方医科大学学报

OBJECTIVE@#To investigate the effect of suppressing high-mobility group box 1 (HMGB1) on neuronal autophagy and apoptosis in rats after intracerebral hemorrhage (ICH) in rats.@*METHODS@#Rat models of ICH induced by intracerebral striatum injection of 0.2 U/mL collagenase Ⅳ were treated with 1 mg/kg anti-HMGB1 mAb or a control anti-IgG mAb injected via the tail immediately and at 6 h after the operation (n=5). The rats in the sham-operated group (with intracranial injection of 2 μL normal saline) and ICH model group (n=5) were treated with PBS in the same manner after the operation. The neurological deficits of the rats were evaluated using modified neurological severity score (mNSS). TUNEL staining was used to detect apoptosis of the striatal neurons, and the expressions of HMGB1, autophagy-related proteins (Beclin-1, LC3-Ⅱ and LC3-Ⅰ) and apoptosis-related proteins (Bcl-2, Bax and cleaved caspase-3) in the brain tissues surrounding the hematoma were detected using Western blotting. The expression of HMGB1 in the striatum was detected by immunohistochemistry, and serum level of HMGB1 was detected with ELISA.@*RESULTS@#The rat models of ICH showed significantly increased mNSS (P < 0.05), which was markedly lowered after treatment with anti- HMGB1 mAb (P < 0.05). ICH caused a significant increase of apoptosis of the striatal neurons (P < 0.05), enhanced the expressions of beclin-1, LC3-Ⅱ, Bax and cleaved caspase-3 (P < 0.05), lowered the expressions of LC3-Ⅰ and Bcl-2 (P < 0.05), and increased the content of HMGB1 (P < 0.05). Treatment with anti-HMGB1 mAb obviously lowered the apoptosis rate of the striatal neurons (P < 0.05), decreased the expressions of Beclin-1, LC3-Ⅱ, Bax and cleaved caspase-3 (P < 0.05), increased the expressions of LC3-Ⅰ and Bcl-2 (P < 0.05), and reduced the content of HMGB1 in ICH rats (P < 0.05).@*CONCLUSION@#Down- regulation of HMGB1 by anti-HMGB1 improves neurological functions of rats after ICH possibly by inhibiting autophagy and apoptosis of the neurons.

Analysis of public health emergencies and related information in schools of Zhejiang Province from 2012 to 2021 / 预防医学

Objective@#To investigate the characteristics of public health emergencies and related information in schools of Zhejiang Province from 2012 to 2021, so as to provide insights into the management of public health risks in schools.@*Methods@#The public health emergencies and related information in schools of Zhejiang Province during the period from 2012 to 2021 were retrieved from the Public Health Emergency Management Information System of Chinese Disease Prevention and Control Information System. The type, temporal distribution and regional distribution of the events and the type of schools were analyzed, and the trends in disease attack rates were evaluated.@*Results@#A total of 1 284 public health emergencies and related information were reported in schools of Zhejiang Province from 2012 to 2021, accounting for 72.34% of all public health emergencies and related information, and a total of 40 562 cases were reported, accounting for 87.72% of all cases; no death was recorded. There were 1 276 infectious disease events reported, accounting for 99.38%, and norovirus enteritis (649 cases), varicella (281 cases), influenza (181 cases), hand, foot and mouth disease (94 cases) and mumps (22 cases) were predominant infectious diseases, accounting for 95.56% of all public health emergencies and related information in schools. The number of public health emergencies and related information in schools peaked during the period between March and June (361 events, 28.12% of all events) and the period between November and December each year from 2012 to 2021 (629 events, 48.99% of all events), and the events occurred across 11 cities of Zhejiang Province, with the largest number of events reported in Hangzhou City (507 events). In addition, there were 627, 328 and 242 events reported in primary schools, kindergartens, and middle schools, accounting for 93.22%, and the events predominantly occurred in city schools. Nevertheless, there were no significant changes in the trends for attack rates of norovirus enteritis, varicella, influenza and hand, foot and mouth disease and mumps in schools of Zhejiang Province from 2012 to 2021.@*Conclusions@#Norovirus enteritis, varicella, influenza, hand, foot and mouth disease and mumps were the predominant types of public health emergencies and related information in schools of Zhejiang Province from 2012 to 2021, and the largest number of events were reported in primary schools.

Research Progress of Pharmacological Therapy and Nutritional Support for Cachexia in Lung Cancer Patients / 中国肺癌杂志

Cachexia is a common complication in patients with lung cancer. It aggravates the toxic and side effects of chemotherapy, hinders the treatment plan, weakens the responsiveness of chemotherapy, reduces the quality of life, increases complications and mortality, and seriously endangers the physical and mental health of patients with lung cancer. The causes and pathogenesis of tumor cachexia are extremely complex, which makes its treatment difficult and complex. Controlling cachexia in lung cancer patients requires many means such as anti-tumor therapy, inhibition of inflammatory response, nutritional support, physical exercise, and relief of symptoms to exert the synergistic effect of multimodal therapy against multiple mechanisms of tumor cachexia. To date, there has been a consensus within the discipline that no single therapy can control the development of cachexia. Some therapies have made some progress, but they need to be implemented in combination with multimodal therapy after fully assessing the individual characteristics of lung cancer patients. This article reviews the application of drug therapy and nutritional support in lung cancer patients, and looks forward to the research direction of cachexia control in lung cancer patients.
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Epidemiological characteristics of notifiable infectious diseasesin Zhejiang Province, 2021 / 预防医学

Objective@#To investigate the epidemiological features of notifiable infectious diseases in Zhejiang Province in 2021, so as to provide the evidence for formulating infectious disease control measures.@*Methods@#The data pertaining to notifiable infectious diseases reported in Zhejiang Province in 2021 were retrieved from the Infectious Disease Surveillance System of China Information System for Disease Control and Prevention. The incidence and mortality of notifiable infectious diseases in Zhejiang Province in 2021 were descriptively analyzed.@*Results@#Totally 29 types of notifiable infectious diseases with 396 623 cases and 391 deaths were reported in Zhejiang Province in 2021, with a reported incidence of 614.28/105 and a reported mortality of 0.605 6/105, respectively. There were 93 204 cases with class B notifiable infectious diseases, with a reported incidence rate of 144.35/105 and 303 419 cases with class C notifiable infectious diseases, with a reported incidence rate of 469.92/105; while no cases with class A notifiable infectious diseases were reported. Syphilis (39.45/105), tuberculosis (37.12/105), viral hepatitis (31.90/105) and gonorrhea (26.34/105) were the four most common class B notifiable infectious diseases, and AIDS (0.477 0/105) and pulmonary tuberculosis (0.116 2/105) were the two most deadly class B notifiable infectious diseases, while hand, foot and mouth disease (192.00/105), other infectious diarrhea (184.24/105) and influenza (86.45/105) were the three most common class C notifiable infectious diseases. According to the transmission route, intestinal and respiratory infectious diseases were the two most common infectious diseases, with reported incidence rates of 384.10/105 and 133.73/105, respectively; and according to the reported region, the highest incidence of class B notifiable infectious diseases was reported in Zhoushan and Ningbo cities, and the highest incidence of class C notifiable infectious diseases was reported in Ningbo City. Totally 1 101 COVID-19 cases were reported in Zhejiang Province in 2021, including 712 confirmed cases and 389 asymptomatic cases, and no deaths occurred.@*Conclusions@#The reported incidence of notifiable infectious diseases declined in Zhejiang Province in 2021 as compared to that prior to COVID-19 epidemics, with remarkable reductions in the incidence of respiratory and intestinal infectious diseases. The management of pulmonary tuberculosis, viral hepatitis and AIDS requires to be reinforced during the containment of COVID-19, to prevent the seasonable epidemic of influenza, hand, foot and mouth disease and other infectious diarrhea in Zhejiang Province.

Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genetic variant in a patient with Usher syndrome.@*METHODS@#Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus.@*RESULTS@#The proband was found to harbor compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene (NM_033056), which were respectively inherited from her father and mother. The same variants were not detected in 100 healthy controls. Based on the guidelines of the American Society of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PP4). By prenatal diagnosis, her fetus was found to carry the c.4095_4096insA variant. After birth, the child has passed neonatal hearing screening test, and no abnormal auditory and visual function was found after the first year.@*CONCLUSION@#The compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene probably underlay the Usher syndrome is this proband.

Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).@*METHODS@#PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.@*RESULTS@#The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.@*CONCLUSION@#The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.