Objective:To investigate the clinical phenotypes, muscle magnetic resonance imaging (MRI) and pathological changes, and genetic characteristics of myfibrillar myopathies (MFMs) cuased by MYOT gene mutation. Methods:(1) The clinical data of a MFMs family caused by a de novo frameshift mutation in MYOT gene admitted to Department of Neurology, Jiaozuo People's Hospital Affiliated to Xinxiang Medical University in February 2021 were collected. Electromyography, muscle MRI, and pathological examination were used to confirm the changes of the muscle lesions. MYOT gene mutation in the proband and other patients was detected by next generation sequencing (NGS) and Sanger sequencing, respectively. The 3D structure models of myotilin protein before and after gene mutation were predicted by AlphaFold3 and pymol3. (2) Literature on MFMs caused by MYOT gene mutation was searched from Pubmed and China National Knowledge Infrastructure from the establishment of these databases to July 2024; clinical and genetic characteristics of MFMs caused by MYOT gene mutation were summarized. Results:(1) In the 9 patients from this family, 8 had onset in adolescence (16-20 years old). Unilateral or bilateral hand muscle weakness as the first symptoms appeared in most patients, and then, hand muscle atrophy gradually appeared and slowly progressed to the proximal limbs. Electromyography showed myogenic damage. Muscle MRI showed patchy long T1 and long T2 signal intensity in the bilateral anterior tibial muscles. Muscle pathological staining showed typical rimbed vacuoles, cytoplasm, smear-like muscle fibers and desmin abnormal deposition in some muscle fibers; electron microscopy revealed disorganized myofibril structures, focal myofibril lysis, Z-band streaming, and subsarcolemmal or myofibril mitochondrial accumulation. Heterozygous mutation in MYOT gene c.680_683del (p.Val227GlufsTer10) locus was noted in 8 patients and daughter of the proband. Bioinformatics analysis suggested that MYOT gene c.680_683del mutation could cause premature termination of myotilin translation, leading to the production of a truncated protein, thereby disrupting its normal structure and function. (2) Eighty-nine patients with MFMs caused by MYOT gene mutation in previous literature mainly manifested as chronic progressive weakness of the distal or proximal limbs, with some involving the myocardium, respiratory muscles, or peripheral nerves. A total of 12 MYOT gene mutations were identified, with p. Ser60phe being the most common mutation. Except for p.Tyr4_his9del, being an in-frame mutation, the others were missense mutations. Conclusion:MFMs caused by MYOT gene mutation exhibit obvious clinical heterogeneity, characterized by very slow progression of muscle weakness; MYOT gene locus c.680_683del (p.Val227GlufsTer10) is a de novo heterozygous mutation.

Objective:To investigate the clinical phenotypes, muscle magnetic resonance imaging (MRI) and pathological changes, and genetic characteristics of myfibrillar myopathies (MFMs) cuased by MYOT gene mutation. Methods:(1) The clinical data of a MFMs family caused by a de novo frameshift mutation in MYOT gene admitted to Department of Neurology, Jiaozuo People's Hospital Affiliated to Xinxiang Medical University in February 2021 were collected. Electromyography, muscle MRI, and pathological examination were used to confirm the changes of the muscle lesions. MYOT gene mutation in the proband and other patients was detected by next generation sequencing (NGS) and Sanger sequencing, respectively. The 3D structure models of myotilin protein before and after gene mutation were predicted by AlphaFold3 and pymol3. (2) Literature on MFMs caused by MYOT gene mutation was searched from Pubmed and China National Knowledge Infrastructure from the establishment of these databases to July 2024; clinical and genetic characteristics of MFMs caused by MYOT gene mutation were summarized. Results:(1) In the 9 patients from this family, 8 had onset in adolescence (16-20 years old). Unilateral or bilateral hand muscle weakness as the first symptoms appeared in most patients, and then, hand muscle atrophy gradually appeared and slowly progressed to the proximal limbs. Electromyography showed myogenic damage. Muscle MRI showed patchy long T1 and long T2 signal intensity in the bilateral anterior tibial muscles. Muscle pathological staining showed typical rimbed vacuoles, cytoplasm, smear-like muscle fibers and desmin abnormal deposition in some muscle fibers; electron microscopy revealed disorganized myofibril structures, focal myofibril lysis, Z-band streaming, and subsarcolemmal or myofibril mitochondrial accumulation. Heterozygous mutation in MYOT gene c.680_683del (p.Val227GlufsTer10) locus was noted in 8 patients and daughter of the proband. Bioinformatics analysis suggested that MYOT gene c.680_683del mutation could cause premature termination of myotilin translation, leading to the production of a truncated protein, thereby disrupting its normal structure and function. (2) Eighty-nine patients with MFMs caused by MYOT gene mutation in previous literature mainly manifested as chronic progressive weakness of the distal or proximal limbs, with some involving the myocardium, respiratory muscles, or peripheral nerves. A total of 12 MYOT gene mutations were identified, with p. Ser60phe being the most common mutation. Except for p.Tyr4_his9del, being an in-frame mutation, the others were missense mutations. Conclusion:MFMs caused by MYOT gene mutation exhibit obvious clinical heterogeneity, characterized by very slow progression of muscle weakness; MYOT gene locus c.680_683del (p.Val227GlufsTer10) is a de novo heterozygous mutation.

Objective:To investigate the effect of homogeneous management combined with staged teaching on physicians receiving standardized training of hepatobiliary surgery.Methods:A total of 46 physicians who received standardized training in Department of Hepatobiliary Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, from January to March 2020 were selected as control group and were given conventional teaching, and 50 physicians who received standardized training from April to June 2020 were selected as observation group and were given homogeneous management combined with staged teaching. The two groups were compared in terms of professional level, clinical ability, and the degree of satisfaction with teaching before and after teaching. SPSS 24.0 was used to perform the independent samples t-test, the paired t-test, the chi-square test, and the rank sum test. Results:After teaching, both groups had significant increases in the scores of theoretical examination and operation skill examination, and compared with the control group, the observation group had significantly higher scores of theoretical examination (94.57±3.28 vs. 90.32±2.12) and operation skill examination (94.37±4.18 vs. 91.25±3.46). After teaching, both groups had significant increases in the scores of clinical consultation, physical examination, humanistic concern, clinical diagnosis, communication ability, organizational ability, and overall evaluation, and the observation group had significantly higher scores of the above seven aspects than the control group (6.98±0.94/6.45±0.14/6.95±0.88/6.65±0.93/6.53±0.26/6.84±0.92/6.58±0.35 vs. 6.13±0.31/6.21±0.76/6.21±0.42/6.18±0.35/6.32±0.61/6.33±0.24/6.25±0.71). The observation group had a significantly higher overall satisfaction rate than the control group [94.00% (47/50) vs. 78.26% (36/46)].Conclusion:In the standardized training and teaching of hepatobiliary surgery, homogeneous management combined with staged teaching can improve the professional level and clinical ability of physicians and enhance the degree of satisfaction with teaching.

Background Zinc is a trace element essential for normal fetal heart development, and excess zinc can be toxic. The relationship between maternal and fetal zinc levels and the development of congenital heart disease (CHD) in the offspring is unclear. Objective To study the effects of maternal and neonatal zinc exposure levels on the risk of developing CHD in the offspring. Methods The data and biological samples of the study subjects were derived from the birth cohort established by Gansu Provincial Maternity and Child Care Hospital in Lanzhou from 2010 to 2012. Questionnaire surveys were conducted at baseline in the first trimester and at follow-up visits in the second trimester, the third trimester, and 42 d after delivery. Maternal venous blood during the third trimester and neonatal umbilical venous blood at delivery were collected, and information on their birth outcomes was extracted from medical records. Ninety-seven children with CHD diagnosed by echocardiography at birth and confirmed at the follow-up after 42 d were selected as the case group, and 194 healthy full-term infants were selected as the control group, 1∶2 matched for maternal age and geographical location from the database. The zinc concentrations in whole blood of pregnant mothers and umbilical cord blood of fetuses in both groups were measured by inductively coupled plasma mass spectrometry. According to the quartiles P₂₅ and P₇₅ of zinc levels in the whole blood of pregnant mothers and neonatal cord blood in the control group, zinc exposure was divided into three groups: low, medium, and high. After adjusting for maternal vaginal bleeding in early pregnancy, pre-pregnancy folic acid and vitamin supplementation, birth weight, and umbilical cerclage confounders, a multiple conditional logistic regression model was applied to analyze the associations between maternal whole blood and fetal umbilical cord blood zinc levels and the risk of CHD in the offspring, and a further subgroup analysis was performed by disease classification. Results The medians (P₂₅, P₇₅) of maternal whole blood zinc levels in the case group and the control group were 5.034 (3.456, 6.644) and 4.693 (3.411, 5.646) mg·L⁻¹, respectively, with significant differences between the two groups (P=0.029). The medians (P_25, P₇₅) of neonatal cord blood zinc level was 2.153 (1.479, 2.405) mg·L⁻¹ in the case group and 1.636 (1.304, 1.979) mg·L⁻¹ in the control group, with significant differences between the two groups (P<0.001). The zinc levels of maternal whole blood and neonatal cord blood in the simple CHD group were significantly higher than those in the control group (P<0.05). The multiple conditional logistic regression model showed that compared with the maternal medium zinc exposure level group (3.41-5.65 mg·L⁻¹), the risk of offspring CHD was 2.225 times of the high exposure level group (>5.65 mg·L⁻¹) (OR=2.225, 95%CI: 1.017-4.868). Compared with the neonatal medium zinc exposure level group (1.30-1.98 mg·L⁻¹), the neonatal high exposure level group (>1.98 mg·L⁻¹) also had an increased risk of CHD (OR=4.132, 95%CI: 1.801-9.480). The subgroup analysis results showed that compared with corresponding medium exposure level groups, the risk of simple CHD in the offspring of the maternal high zinc exposure level group was increased (OR=4.081, 95%CI: 1.427-11.669), and the risks of simple CHD (OR=7.122, 95%CI: 2.126-23.854) and complex CHD (OR=5.165, 95%CI: 1.859-14.346) of neonates of the neonatal high zinc exposure level group were increased. Conclusion Under the exposure levels of the study population, high concentrations of zinc exposure in pregnant mothers and neonates may be associated with the incidence of CHD.

Objective To systematically evaluate the correlation between vitamin D deficiency in early pregnancy and the outcome of preterm birth.Method PubMed,Embase,the Cochrane Library,Web of Science,Ebsco,CBM,CNKI and Wanfang Data databases were searched to collect cohort studies and case-control studies on the correlation between vitamin D deficiency in early pregnancy and preterm birth outcomes,and the retrieval time was from the establishment of the database to June 2019.Two researchers independently reviewed the literature,extracted the data and evaluated the risk of bias in the included studies.RevMan 5.3 software was used for Meta analysis.Result A total of 6 cohort studies and 3 nested case-control studies were included.A total of 30 891 newborns were included,including 1 912 premature infants.3 Chinese articles and 6 English articles were reviewed including three studies from China,three from North America,two from Europe and one from Australia.The diagnostic criteria for vitamin D deficiency and preterm birth were similar in these studies.After adjusting for age,race and other confounding factors,Meta-analysis results showed that vitamin D deficiency in early pregnancy did not increase the risk of preterm birth (OR =1.04,95％ CI 0.90 ～ 1.20,P =0.63).Subgroup analysis were conducted according to the study type,measurement method and regional population,and the results were consistent with the overall results.No significant publication bias was found in the meta-analysis results.Conclusion Current evidence suggests that vitamin D deficiency in early pregnancy has no significant influence on preterm birth.

BACKGROUND: Lung cancer is the leading cause of cancer-related death in China. The results from a randomized controlled trial using annual low-dose computed tomography (LDCT) in specific high-risk groups demonstrated a 20% reduction in lung cancer mortality. The aim of tihs study is to establish the China National lung cancer screening guidelines for clinical practice. METHODS: The China lung cancer early detection and treatment expert group (CLCEDTEG) established the China National Lung Cancer Screening Guideline with multidisciplinary representation including 4 thoracic surgeons, 4 thoracic radiologists, 2 medical oncologists, 2 pulmonologists, 2 pathologist, and 2 epidemiologist. Members have engaged in interdisciplinary collaborations regarding lung cancer screening and clinical care of patients with at risk for lung cancer. The expert group reviewed the literature, including screening trials in the United States and Europe and China, and discussed local best clinical practices in the China. A consensus-based guidelines, China National Lung Cancer Screening Guideline (CNLCSG), was recommended by CLCEDTEG appointed by the National Health and Family Planning Commission, based on results of the National Lung Screening Trial, systematic review of evidence related to LDCT screening, and protocol of lung cancer screening program conducted in rural China. RESULTS: Annual lung cancer screening with LDCT is recommended for high risk individuals aged 50-74 years who have at least a 20 pack-year smoking history and who currently smoke or have quit within the past five years. Individualized decision making should be conducted before LDCT screening. LDCT screening also represents an opportunity to educate patients as to the health risks of smoking; thus, education should be integrated into the screening process in order to assist smoking cessation. CONCLUSIONS A lung cancer screening guideline is recommended for the high-risk population in China. Additional research , including LDCT combined with biomarkers, is needed to optimize the approach to low-dose CT screening in the future.
Aged ; China ; epidemiology ; Early Detection of Cancer ; Female ; Humans ; Lung Neoplasms ; diagnostic imaging ; epidemiology ; Male ; Mass Screening ; Middle Aged ; Patient Selection ; Practice Guidelines as Topic ; Radiation Dosage ; Risk ; Rural Population ; statistics & numerical data ; Tomography, Spiral Computed

The pediatric reference intervals in clinical laboratory play an important role in diagnosis of illness,therapeutic monitoring,prediction of prognosis and health evaluation.Compared with establishing reference interval for adults,there are more challenges to establish pediatric reference intervals.Therefore,the procedure and key technologies of direct method and indirect method are stated based on the characteristics of children population and pediatric,by which to define,transfer and validate pediatric reference intervals.This study will provide systematically methodological ideas for clinical laboratories to establish pediatric reference intervals.

Objective To study the changes of cytokines in aqueous humor of patients with proliferative diabetic retinopathy (PDR)after intravitreal bevacizumab (IVB) and the correlation of these cytokines.Methods Fifty-six patients(63 eyes) with severe PDR underwent pars piana vitrectomy (PPV) with IVB pretreatment in our hospital from April,2014 to February,2015 were collected.All the patients received IVB therapy from 3 days to 7 days before PPV.Aqueous humor samples were collected at the time of IVB and PPV treatment.The concentrations of vascular endothelial growth factor (VEGF),interleukin-6 (IL-6),interleukin-8 (IL-8) and monocyte chemotactic protein-1 (MCP-1) were measured by cytoinetric bead array (CBA).The changes of these cyto-kines after IVB were analyzed by using Wilcoxon rank sum test for paired data.The correlation between these cytokines was analyzed by using Spearman rank test.Results From 3 days to 7 days after IVB,the concentration of VEGF in aqueous humor was (6.57 ± 12.29)pg · mL-1,lower than the pre-operation of (278.71 ±340.20)pg · mL-1,the difference was statistically significant (P ＜ 0.05).The concentration of IL-8 was (385.60 ± 1099.47) pg · mL-1,higher than pre-operation of(298.87 ± 1005.79) pg ·mL-1,the difference was statistically significant (P ＜ 0.05).IL-6 and MCP-1 were increased after IVB,but the difference was not statistically significant (all P ＞ 0.05).VEGF,IL-6,IL-8 and MCP-1 had an obviously relationship between each two factors(all P ＜ 0.05).Conclusion Angiogenesis in patients with PDR are regulated by a variety of cytokines,and targeted reduction of VEGF may compensatory increase the concentration of other inflammatory cytokines.

Objective To compare the efficacy of arthroscopic assisted percutaneous plate osteosynthesis and conventional open reduction and plate internal fixation in treatment of tibial plateau fractures of SchatzkerⅠ ~ Ⅳ . Methods Clinical data of 60 patients with tibial plateau fractures from July 2014 to July 2016 was retrospectively analyzed. All the patients were divided into observation group (30 cases) and control group (30 cases). Patients in observation group underwent arthroscopic assisted percutaneous internal fixation surgery, while patients in control group underwent conventional open reduction and plate internal fixation. Then record the operation index, the incidence of postoperative complications, maximum active angle of knee joint and the excellent rate of treatment. Results The operation index, postoperative complication rate, maximum active angle of knee joint and the treatment excellence rate in observation group was superior to control group. Conclusion With better clinical value, arthroscopic assisted percutaneous plate fixation was more satisfactory than conventional open reduction and plate internal fixation in treatment of tibial plateau fractures of Schatzker Ⅰ ~ Ⅳ .

OBJECTIVE:To study the effects of Tanshinone capsules on glucose and lipid metabolism and serum sex hormone level in rats with polycystic ovary syndrome (PCOS). METHODS:90 female SD rats were randomly divided into normal group (distilled water),model group (distilled water),positive control group (metformin 200 mg/kg) and Tanshinone capsules low-dose,medium-dose and high-dose groups(30,60,90 mg/kg),with 15 rats in each group. Those groups were induced PCOS mod-el except for normal group;after modeling,those groups were given relevant medicine intragastrically for consecutive 28 d,once a day. The ovulation rate was compared before intervention and 28 d after intervention. Body weight,fat wet weight,fasting insulin (FINS),fasting blood-glucose (FPG),AUC of glucose,HOMA-IR,ISI,serum levels of FSH,LH and T were detected. RE-SULTS:Compared with normal group,anovulation,body weight,fat wet weight,FINS,FPG,AUC of glucose,HOMA-IR, FSH,LH and T were all increased significantly in model group,while ISI decreased significantly(P<0.05). Compared with mod-el group,ovulation rate and ISI of positive control group and Tanshinone capsules groups were increased significantly after interven-tion, while body weight (except for Tanshinone capsules low-dose group), fat wet weight (except for Tanshinone capsules low-dose group),FINS,FPG,AUC of glucose,HOMA-IR,FSH,LH and T were all decreased significantly(P<0.05),especial-ly in Tanshinone capsules high-dose group and positive control group. CONCLUSIONS:Tanshinone capsules can regulate glucose and lipid metabolism and serum sex hormone secretion disorder in PCOS rats.