Congenital myasthenic syndrome（CMS）is a group of neuromuscular transmission disorders caused by genetic defects，and it is characterized by an early age of onset，fatigable weakness of skeletal muscle，and a high disability rate，with respiratory failure as a common cause of death. Endplate acetylcholinesterase deficiency（EAD）caused by COLQ gene mutations is a subtype of CMS，and repetitive compound muscle action potential（R-CMAP）in nerve conduction examination is the key evidence for diagnosis. The heterogeneity of clinical phenotypes of CMS often leads to misdiagnosis or missed diagnosis，resulting in delayed treatment. This article reports a case of CMS caused by COLQ mutation and summarizes the pathogenesis，mechanisms，clinical manifestations，electrophysiological characteristics，differential diagnosis，treatment，and prognosis of the disease with reference to relevant literature，in order to improve the understanding of this subtype of CMS among clinicians.

Background Perfluorinated and polyfluoroalkyl substances (PFAS), a large group of emerging pollutants, are ubiquitous in the ecological environment. Their multiple organ toxic effects on human body are reported. Understanding the exposure level of PFAS in cord serum and associated influencing factors can provide scientific evidence for studying maternal and newborn health effects and risk regulation. Objective To explore the exposure levels of PFAS in cord serum and potential impact factors. Methods This study was based on the maternal and infant database and the cord serum sample bank of the Sheyang Mini Birth Cohort Study (SMBCS) established in 2009. A self-designed questionnaire was used to collect information on sociodemographic characteristics, living environment, and lifestyle of mothers during pregnancy. A total of 1097 cord serum samples were measured utilizing ultra-high performance liquid chromatography-Q-Exactive Orbitrap high-resolution mass spectrometry. Multiple linear regression models were used to identify influencing factors related to PFAS exposure level in cord serum. Results A total of 38 types of PFAS were detected in the cord serum samples, including 20 perfluorocarboxylic acids (PFCA), 14 perfluorosulfonic acids (PFSA), and 4 other types of PFAS. The detection rates of 14 PFAS compounds were above 50%. The detection rates of perfluoro-1-hexanesulfonic acid (PFHxS), perfluoro-1-octanesulfonic acid (PFOS), perfluorononanoic acid (PFNA), perfluorooctanoic acid (PFOA), perfluorodecanoic acid (PFDA), and perfluoroundecanoic acid (PFUdA) were in the range of 99.18%-100.00%. The median concentrations of PFOA and 6∶2 chlorinated polyfluorinated ether sulfonic acid (6∶2CI-PFESA) were higher than those of the other compounds, which were 3.76 µg·L⁻¹ and 2.61 µg·L⁻¹, respectively. The correlation coefficients among cord serum PFAS were in the wide range of 0.0911-0.8429 (P < 0.05). The associations between PFHxS and perfluoro-1-heptanesulfonic acid (PFHpS) (r=0.8429, P < 0.05), PFOS and PFHpS (r=0.7012, P < 0.05), and PFUdA and perfluorododecanoic acid (PFDoA) (r=0.7875, P < 0.05) were positive. The proportions of PFCA and PFSA in the cord serum samples were 60.1% and 38.4%, respectively. PFOA and 6∶2 Cl-PFESA were the predominant compounds in the cord serum samples, whose proportions were 37.8% and 19.3%, respectively. The concentrations of specific types of cord serum PFAS had varied associations with the following demographic variables of pregnant women: age, parity, education level, gestational age, and occupation. The multiple linear regression analysis found that the concentrations of 8 PFAS (PFHxS, PFHpS, PFNA, PFOS, PFDA, PFUdA, PFDoA, and 6∶2 CI-PFESA) in umbilical cord serum were lower in pregnant women aged 25 years and older than in those under the age of 25 years; compared to pregnant women with education levels at or below junior middle school, those with education levels at or above high school had lower concentrations of perfluoroheptanoic acid (PFHpA); the concentration of PFHpA in cord serum was negatively correlated with household annual income; multiparous women had higher concentrations of PFNA, PFUdA, and PFDoA than primiparous women; compared to mothers engaged in manual labor, the concentration of perfluoro-1-butanesulfonic acid (PFBS) in umbilical cord serum was lower in mothers engaged in mental labor, while the concentrations of PFBS and PFOA were lower and the concentrations of perfluorotridecanoic acid (PFTrDA) and 8∶2 chlorinated polyfluorinated ether sulfonic acid (8∶2CI-PFESA) were higher in mothers of other occupational types; the concentrations of umbilical cord serum PFOA, PFOS, PFUdA, and PFDoA were positively correlated with the gestational age of pregnant women, while N-methylperfluoro-1-octanesulfonamido acetic acid (N-MeFOSAA) was negatively correlated with the gestational age of pregnant women; PFTrDA was negatively correlated with the birth weight of newborns; compared with those with insufficient gestational weight gain, those with adequate gestational weight gain had lower PFDoA, while those with excess gestational weight gain had higher N-MeFOSAA. Conclusion PFAS compounds exposure is common in the mothers and infants in the study area. PFOA and 6∶2 CI-PFESA are the two main compounds in cord serum. Cord serum PFAS are associated with several demographic characteristics of the pregnant women. Future research needs to pay more attention to PFAS alternatives and other emerging contaminants.

Background and purpose:In 2016 the National Cancer Institute(NCI)decided stopping to use NCI-60 cell lines for drug screening,suggesting that tumor cell lines were losing their value as a tool for drug discovery and basic research.The reason for NCI-60 cells'retirement'was that the preclinical studies based on traditional cellular and animal models did not obtain the corresponding expected efficacy in clinical trials.Since the major cancer behaviors,such as proliferation and metastasis,are fundamentally altered with long-term culture,the tumor cell lines are not representative of the characteristics of cancer in patients.Currently,scientists hope to create a new cancer model that are derived from fresh patient samples and tagged with details about their clinical past.Our purpose was to create patient-derived breast cancer primary cell lines as new cancer model for drug screening and basic research.Methods:Breast cancer tissues were collected in the Department of Breast Surgery,Affiliated Hospital of Guizhou Medical University.The collection of tumor tissue samples was approved by the Ethics Committee of the Affiliated Hospital of Guizhou Medical University(approval number:2022 ethics No.313),and the collection and use of tumor tissues complied with the Declaration of Helsinki.The primary breast cancer cell lines were isolated from the patient's breast cancer tissues and cultured in BCMI medium.After the cells proliferated,the media were replaced with DEME medium.Cell line STR genotyping was done to determine cell-specific genetic markers and identification.Clone formation assay and transplantation assay were done to analyze the ability of breast cancer primary cell lines to form tumors.Results:We created 6 primary breast cancer cell lines.The 6 primary breast cancer cell lines from the patients were tagged with the definitively clinicopathological features,clinical diagnosis,therapeutic regimens,clinical effectiveness and prognostic outcomes.The STR genotyping assays identified the genetic markers and determined the identities of the 6 primary breast cancer cell lines.Clone formation assays and transplantation assay showed that the proliferative capacities of the patient-derived primary breast cancer cell lines were significantly greater compared with the conventional breast cancer cell lines.Conclusion:We created a panel of 6 patient-derived primary breast cancer cell lines as new cancer model for drug screening and basic research in breast cancer.

Hip fractures are among the most common fractures in the elderly, presenting to be a leading cause of disability and mortality. Surgical treatment is currently the main treatment method for hip fractures. The incidence of perioperative malnutrition is increased after hip fractures in the elderly due to the comorbidities, decreased basal metabolic rate, accelerated protein breakdown, weakened anabolism and surgical stress. However, malnutrition not only increases the incidence of postoperative complications, but also leads to increased mortality, indicating an important role of perioperative nursing management of nutrition for the elderly patients with hip fractures. At present, there still lacks scientific guidance and application standards on perioperative nursing management of nutrition for the elderly patients with hip fractures. Therefore, the Orthopedic Nursing Committee of Chinese Nursing Association and the Editorial Board of Chinese Journal of Trauma organized relevant experts to formulate the Expert consensus on perioperative nursing management of nutrition for elderly patients with hip fractures ( version 2023) according to evidence-based medical evidences and their clinical experiences. Fourteen recommendations were made from aspects of nutrition screening, nutrition assessment, nutrition diagnosis, nutrition intervention and nutrition monitoring to provide guidance for perioperative nursing management of nutrition in elderly patients with hip fractures.

Objective To investigate the application value of tenofovir alafenamide fumarate (TAF) in elderly patients with chronic hepatitis B (CHB) and its influence on bones and kidneys. Methods A total of 36 CHB patients, aged ≥60 years, who received TAF antiviral therapy in Qingdao Municipal Hospital, The Affiliated Hospital of Qingdao University, Qingdao Sixth People's Hospital, Chengyang People's Hospital, and Jimo People's Hospital from June 2021 to October 2022 were enrolled in this study, and all patients received TAF (25 mg/d) antiviral therapy. Related data were collected at baseline and weeks 24 and 48 of treatment, including virological indicators, biochemical parameters, urinary protein electrophoresis indices, transient elastography (FibroScan), and bone mineral density. Virological indicators included high-sensitivity HBV DNA quantification; biochemical parameters included total bilirubin, direct bilirubin (DBil), indirect bilirubin (IBil), alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, gamma-glutamyl transpeptidase, total bile acid (TBA), glucose, blood urea nitrogen, creatinine, estimated glomerular filtration rate, and cystatin C (Cys C); urinary protein electrophoresis indices included urinary β2 microglobulin (β2-MG), urinary retinol (URBP), and urinary α1 microspherin (α1-MG). The paired t -test was used for comparison of normally distributed continuous data before and after treatment, and the Wilcoxon signed-rank test was used for comparison of non-normally distributed continuous data before and after treatment; the chi-square test or the Fisher's exact test was used for comparison of categorical data. Results A total of 36 CHB patients completed 24 weeks of follow-up. The complete virological response rate after 24 weeks of treatment was higher than that at baseline [83.3% (30/36) vs 77.8% (28/36), χ 2 =0.36, P =0.55], and there were significant reductions in DBil ( t =-2.42, P =0.02) and Cys C ( t =-4.34, P < 0.001) from baseline to week 24. A total of 18 CHB patients completed 48 weeks of follow-up. The complete virological response rate after 48 weeks of treatment was higher than that at baseline (94.4% vs 77.8%, χ 2 =2.22, P =0.34), and there were significant increases in IBil ( t =2.43, P =0.03), TBA ( Z =-2.24, P =0.03), and bone mineral density T score of lumbar vertebra ( t =2.92, P = 0.01) and femoral neck ( t =2.42, P =0.03) and a significant reduction in liver stiffness measurement ( t =-2.31, P =0.03). There were no significant changes in β2-MG, URBP, and α1-MG after treatment (all P > 0.05). Conclusion TAF has a good antiviral effect in CHB patients aged ≥60 years and can help more CHB patients achieve complete virological response, without causing damage to the kidney, and it can also improve bone mineral density and liver fibrosis degree.

Objective:To evaluate the application effect of a personalized nutritional program based on nutrition risk screening in kidney transplant patients.Methods:Using the convenient sampling method, a total of 90 patients who completed kidney transplantation in the Second Xiangya Hospital of Central South University from November 2020 to May 2021 were selected as the research objects. Envelopes were used to draw lots, and patients were randomly divided into the control group (45 cases) and the test group (45 cases) . The control group was given routine basic treatment and nursing care, while the test group was given a personalized nutrition plan based on nutritional risk screening at basis of the control group. The changes of nutritional indexes such as total protein, albumin, prealbumin, retinol-binding protein, serum iron, total iron-binding capacity, and hemoglobin were observed before operation and on the 3rd, 7th, and 14th days after operation in the two groups. The changes of renal function indicators (such as serum creatinine level, endogenous creatinine clearance rate, glomerular filtration rate) were compared between the two groups, and the incidence of readmission within 3 months of discharge was compared between the two groups.Results:The levels of retinol-binding protein in the experimental group on the 3rd, 7th, and 14th days of intervention were better than those in the control group, while the serum creatinine level and glomerular filtration rate were lower than those in the control group, and the differences were statistically significant ( P<0.05) . On the 14th day of intervention, the levels of total protein, hemoglobin, total iron binding capacity and serum iron in the test group were higher than those in the control group, and the clearance rate of endogenous creatinine was lower than that in the control group, and the differences were statistically significant ( P<0.05) . Repeated measures analysis of variance showed that time had an effect on the recovery of nutritional and renal function indexes of patients in both groups ( P<0.05) . There were statistically significant differences in the levels of total protein, hemoglobin, retinol-binding protein, serum creatinine and the main effect of glomerular filtration rate intervention between the two groups ( P<0.05) . And there was an interaction between intervening factors and time of hemoglobin, retinol-binding protein and serum iron levels ( P<0.05) . After 3 months of follow-up, the readmission rate of patients in the experimental group was 0, and that in the control group was 13.6% (6/44) , and the difference was statistically significant ( P<0.05) . Conclusions:Nutritional risk screening combined with personalized nutrition program can effectively improve the nutritional status of kidney transplant patients, promote the recovery of transplanted kidney function, reduce the readmission rate and improve the clinical outcome of patients.

BACKGROUND: Development of bone tissue engineering provides a new method to solve bone defect repair. Scaffold material and structure construction are issues of concern. OBJECTIVE: To fabricate a silk fibroin and hydroxyapatite scaffold with biomimetic interconnected macropores structure using the paraffin-sphere leaching technology and to evaluate its possibility of cytocompatibility. METHODS: The scaffold with biomimetic interconnected macropores structure was made by the paraffin-sphere leaching technology. The structure of scaffold was observed by the stereomicroscope and scanning electron microscope. The pore size and elasticity modulus were calculated. Passage 3 rabbit adipose-derived mesenchymal stem cells were seeded into the scaffold. The cell viability was detected by live/dead staining at 48 hours after culture. The cell adhesion was observed by hematoxylin-eosin staining at 1 week of culture. The scaffold-cell composite was observed under scanning electron microscope at 3 days of culture. The cell proliferation was detected by the cell counting-kit 8 assay at 1, 3, 5 and 7 days of culture. Those cells cultured alone were considered as control group. RESULTS AND CONCLUSION: (1) Stereomicroscope showed the ivory silk fibroin/hydroxyapatite scaffold. Scanning electron microscope revealed pore structures in cross-section and longitudinal-section with good connectivity. The scaffold pore size was (362.23±26.52) μm and the elasticity modulus was (54.93±5.44) kPa. (2) Scanning electron microscope showed that adipose-derived mesenchymal stem cells adhered and stretched well in the pore wall and connected pore, secreted abundant extracellular matrix, and filled in the pores of silk fibroin/hydroxyapatite scaffold. (3) Hematoxylin-eosin staining results found that adipose-derived mesenchymal stem cells evenly adhered onto the inner wall of silk fibroin/hydroxyapatite scaffold, and proliferated well. (4) Live/dead staining revealed a good viability of adipose-derived mesenchymal stem cells. (5) Cell counting-kit 8 assay results showed the good proliferation of adipose-derived mesenchymal stem cells on the scaffold. (6) To conclude, the silk fibroin/hydroxyapatite scaffold possesses good pore size and cytocompatibility.

Objective: To investigate whether topical mucopolysaccharide polysulfate (MPS) cream can reduce the incidence of eczema and skin atrophy in patients with moderate- or low-risk infantile hemangioma after the treatment with topical beta-blockers or 595-nm pulsed dye laser (PDL) , and to analyze factors influencing the occurrence of eczema and skin atrophy. Methods: A total of 722 patients aged 0- 1 years with moderate- or low-risk infantile hemangioma were enrolled from 5 Children′s Hospitals in China. According to the disease condition and therapy acceptability, these patients were divided into 6 groups to be treated with topical beta-blockers and MPS cream (blocker+ MPS group) , topical beta-blockers (blocker group) , 595-nm PDL and topical MPS cream (PDL+ MPS group) , 595-nm PDL (PDL group) , 595-nm PDL combined with topical beta-blockers and MPS cream (PDL+ blocker+ MPS group) , and 595-nm PDL and topical beta-blockers (PDL+ blocker group) , respectively. All the externally applied agents were applied twice a day, and PDL was performed once every 4 weeks. Efficacy and adverse reactions were evaluated after 3-month treatment. Univariate and multivariate Logistic regression analyses were carried out to analyze factors influencing the incidence of eczema and skin atrophy in patients with infantile hemangioma after treatment, and chi-square test was carried out to compare efficacy among the groups. Results: After 3-month treatment, multivariate Logistic regression analysis for comparing the blocker+ MPS group with blocker group showed that the risk factor for eczema on the surface of hemangiomas was no topical treatment with MPS cream (P= 0.007, OR= 3.887, 95% CI: 1.439-10.493) , while no correlations were observed between the occurrence of skin atrophy on the surface of hemangiomas and analyzed factors. Multivariate Logistic regression analysis for comparing the PDL+MPS group with PDL group showed that no topical treatment with MPS cream (P < 0.001, OR= 7.402, 95% CI: 2.604-21.042) and northern areas (P < 0.001, OR= 67.048, 95% CI: 7.977-563.518) were risk factors for eczema on the surface of hemangiomas, and risk factors for skin atrophy on the surface of hemangiomas included no topical treatment with MPS cream (P = 0.001, OR = 9.371, 95 CI: 2.590 - 33.900) and abundant blood supply of hemangiomas (P = 0.036, OR = 2.971, 95% CI: 1.075-8.208) . Multivariate Logistic regression analysis for comparing the PDL + blocker+ MPS group with PDL+ blocker group showed that risk factors for eczema on the surface of hemangiomas were no topical treatment with MPS cream (P= 0.005, OR= 3.426, 95% CI: 1.446-8.119) and northern areas (P < 0.001, OR= 31.704, 95% CI: 6.924-145.158) , and risk factors for skin atrophy on the surface of hemangiomas included no topical treatment with MPS cream (P < 0.001, OR= 6.011, 95% CI: 2.558-14.126) and southern areas (P= 0.022, OR= 3.021, 95% CI: 1.177-7.753) . After 3-month treatment, the response rate was significantly higher in the PDL group than in the PDL+ MPS group (χ²= 4.531, P= 0.033) , and significantly higher in the blocker group than in the blocker+ MPS group (χ²= 4.344, P= 0.037) . There were no significant differences in the response rate or cure rate among the other groups (all P > 0.05) . Conclusion During the treatment of moderate- or low-risk infantile hemangioma with topical beta-blockers or 595-nm PDL, the combination with topical MPS cream can reduce the occurrence of eczema and skin atrophy without affecting the therapeutic effect.

Objective To analyze the distribution of microorganisms in kidney perfusion fluid and perirenal drainage of the renal allografts,and provide evidence to guide clinical practice.Methods The clinical data from the kidney donors and the recipients,the microbiologic culture results of kidney perfusion fluid and perirenal drainage were retrospectively analyzed.Results Ninety-one kidney perfusion fluid samples and 91 perirenal drainage samples were collected from 61 individual renal allografts,and 48 renal allografts were paired.Fourteen (15.4％,14/91) cultured kidney perfusion fluid samples were positive,17 strains were confirmed including 13 strains of bacteria and 4 strains of fungal,and 9 (69.2％,9/13) of bacterial strains were multidrug-resistance with 7 strains resistant to carbapenems,but there was no significant heterogeneity in the outcome of recipients with positive or negative culture results of kidney perfusion fluid samples.Eight (8.8％,8/91) perirenal drainage samples from different recipients were positive,5 of 8 bacterial strains were multidrug-resistance and 3 of them were resistant to carbapenems including meropenem or imipenern.There was no significant correlation between the length of donors' hospital stay and the culture results (P＞0.05),and there was also no significant correlation between the length of recipients' hospital stay after transplantation and the culture results (P＞0.05).Conclusion The kidney with positive perfusion fluid microbiologic culture can be transplanted safely using the prophylaxis or preemptive anti-infection therapy.

Objective To compare the clinical efficacy of kidney transplantations from donors with acute kidney injury (AKI) and without AKI,and summarize the experience of evaluation and application.Methods The clinical data of 240 kidney transplantations from donation after citizen's death (DCD) performed in our hospital between November 2011 and March 2015 were retrospectively analyzed.The recipients were classified into AKI group (n =37) and non-AKI group (n =203) according to donors' renal function and urine output.Basic characteristics and evolution of the donors and recipients were compared between the two groups.Results The donor serum creatinine was significantly higher in the AKI group than that in the non-AKI group (P＜0.01).Most transplant recipients accepted ATG for immune induction therapy in the AKI group,while Basiliximab was given in the non-AKI group,which was significantly different (P＜0.01).Delayed graft function developed more frequently and longer in the AKI group than in the non-AKI group (P＜0.01).However,patient and graft survival rates did no differ between the AKI and non-AKI groups (P＞0.05).There was no significant difference in other indexes between the two groups (P＞0.05).Conclusion The transplants from donors with AKI showed higher incidence of delayed graft function but no effect on 1-year allograft and patient survival.This type of kidney transplantation is safe and effective.