A case of AQP4-IgG-negative neuromyelitis optica spectrum disorders with initial clinical manifestation of painful trigeminal neuropathy and literature review / 中国医师杂志

Objective:To explore the clinical manifestations and imaging of neuromyelitis optica spectrum disorders (NMOSD) with negative aquaporin-4 immunoglobulin G antibody (AQP4-IgG) with initial clinical manifestation of painful trigeminal neuropathy.Methods:The symptoms, signs, imaging examinations, diagnosis and treatment of a case of AQP4-IgG-negative NMOSD in neurology department of Affiliated Hospital of Southwest Medical University were reported and the relevant literatures were reviewed.Results:In the first episode, the patient started with right-sided facial pain with segmental paresthesia in the left limb. And In the second episode, the patient started with intractable hiccups and vomiting with weakness and paresthesia in the left limb. Magnetic resonance imaging of the skull and spinal cord revealed that the lesion involved the medulla oblongata and cervical medulla. AQP4 antibody, myelin oligodendrocytes glycoprotein (MOG) antibody, myelin basic protein (MBP) antibody and oligoclonal bands(OCB) of serum and cerebrospinal fluid were negative. The clinical diagnosis was AQP4-IgG-negative NMOSD. After treatments with hormonal anti-inflammatory and analgesic therapy, the patient′s facial pain, sensory abnormalities, hiccups, vomiting and limb weakness improved significantly.Conclusions:Painful trigeminal neuropathy may be the initial clinical manifestation of AQP4-IgG-negative NMOSD. NMOSD of presenting solely with painful trigeminal neuropathy is easy to be misdiagnosed and missed. Magnetic resonance examination is helpful for the early diagnosis of NMOSD.

Effects and mechanisms of melatonin combined with enriched environment on learning and memory ability of SAMP8 mice / 中华行为医学与脑科学杂志

Objective:To explore the effects and possible mechanisms of melatonin combined with enriched environment on the learning and memory ability of senescence-accelerated mouse prone 8(SAMP8).Methods:Forty-eight SAMP8 male mice aged 4 months were randomly divided into model group, enriched environment group, melatonin group and melatonin combined with enriched environment group (combined intervention group) by random number table method, with 12 mice in each group. Mice in the melatonin group and combined intervention group were subcutaneously injected with melatonin at a dose of 8 mg·kg -1·d -1, and the mice in the model group and the enriched environment group were given the same amount of normal saline instead.The mice in model group and melatonin group were raised in a standard environment, and the mice in enriched environment group and combined intervention group were raised in an enriched environment.The intervention lasted 28 days. The aging degree of mice was scored before and 28 days after the intervention. Morris water maze test was used to detect the learning and memory ability of mice. Nissl staining and TUNEL staining were used to observe the Nissl staining positive cells and apoptotic cells in the CA1 area of hippocampus.ELISA was used to detect the levels of interleukin-1β (IL-1β), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in the hippocampus of mice. Western blot was used to detect the levels of amyloid β-protein (Aβ) 1-42, microtubule-associated protein tau (tau) phosphorylated at threonine (Thr) 205 (Tau pT205), Toll-like receptor 4 (TLR4), and nuclear factor-κB (NF-κB) p65 protein in the hippocampus of mice. qRT-PCR was used to detect the levels of TLR4, NF-κB p65 mRNA in the hippocampus of mice. SPSS 22. 0 statistical software was used for repeated measure ANOVA, one-way ANOVA and LSD test. Results:(1) Aging score: after intervention, the aging scores of mice in the four groups were significantly different ( F=120.601, P<0.01). The aging scores of mice in the enriched environment group, melatonin group, and combined intervention group were lower than those in the model group (all P<0.05), while the aging score of mice in the combined intervention group was significantly lower than those in the enriched environment group and melatonin group (both P<0.05). (2) The results of the location navigation experiment showed that the time × group interaction effect of the escape latencies of mice in the four groups were significant ( F=30.524, P<0.001). From the 2nd to 4th day, the escape latencies of mice in the enriched environment group, melatonin group and combined intervention group were all lower than that in the model group (all P<0.05). The results of the space exploration experiment showed that the residence time in the target quadrant and the number of platform crossings of mice in the four groups were significantly different ( F=291.328, 113.482, both P<0.01). The residence time in the target quadrant ((29.45±1.70)s, (32.44±1.55)s, (37.48±0.84) s) and the number of platform crossings ((6.44±0.61) times, (7.16±0.70) times, (12.60±1.23) times) of mice in the enriched environment group, melatonin group and combined intervention group were higher than those in the model group ((15.07±1.28) s, (4.10±0.61) times), while the residence time in the target quadrant and the number of platform crossings of mice in the enriched environment group and the melatonin group were significantly lower than those in the combined intervention group (all P<0.05). (3) Nissl and TUNEL staining showed that the number of Nissl positive neurons in the hippocampal CA1 region of mice in the four groups were significantly different ( F=809.264, P<0.01), and the number of apoptotic cells in the hippocampal CA1 region were also significantly different ( F=1 060.583, P<0.01). The number of Nissl stained positive neurons in the hippocampal CA1 region of mice in the combined intervention group was more than those in the model group, enriched environment group, and melatonin group (all P<0.05), and the number of apoptotic cells were less than those in the model group, enriched environment group, and melatonin group (all P<0.05). (4) The results of ELISA assay showed that there were significantly different in the levels of IL-1β, IL-6 and TNF-α in the hippocampus of mice in the four groups ( F=152.887, 63.506, 432.026, all P<0.01). The contents of IL-1β, IL-6 and TNF-α in the hippocampus of mice in the enriched environment group, melatonin group, and combined intervention group were lower than those in the model group(all P<0.05). Among them, the contents of IL-1β, IL-6 and TNF-α in the hippocampus of mice in the enriched environment group and melatonin group were significantly higher than those in the combined intervention group (all P<0.05). (5) Western blot analysis showed that there were significantly different in the protein expression levels of Aβ1~42, tau pT205, TLR4, NF-κB p65 in the hippocampus of mice in the four groups ( F=122.349, 98.934, 201.635, 116.553, all P<0.01). The protein expression levels of Aβ1-42, tau pT205, TLR4, and NF-κB p65 in the hippocampus of mice in the enriched environment group, melatonin group, and combined intervention group were lower than those in the model group.Among them, the protein expression levels of Aβ1-42, tau pT205, TLR4, NF-κB p65 in the hippocampus of mice in the enriched environment group and melatonin group were significantly higher than those in the combined intervention group (all P<0.05). (6) qRT-PCR showed that the mRNA expression levels of TLR4 and NF-κB p65 in the hippocampus of mice in the four groups were significantly different ( F=42.913, 102.446, both P<0.01). The mRNA expression levels of TLR4 ((0.63±0.05), (0.55±0.04), (0.42±0.03)) and NF-κB p65 ((0.98±0.06), (0.82±0.04), (0.72±0.04)) in the hippocampus of mice in the enriched environment group, melatonin group and combined intervention group were lower than those in the model group ((0.74±0.07), (1.20±0.05)) (all P<0.05). Among them, the mRNA expression levels of TLR4 and NF-κB p65 in the hippocampus of mice in the enriched environment group and melatonin group were significantly higher than those in the combined intervention group (all P<0.05). Conclusion:Melatonin combined with enriched environment can improve the learning and memory ability and neuroinflammatory response of SAMP8 mice, and its mechanism may be related with the down-regulation of TLR4/NF-κB p65 signaling pathway.

Value of peripheral blood monocyte subsets and CD64 expression in the diagnosis and prognosis of sepsis / 中华危重病急救医学

Objective:To explore the value of monocyte subsets and CD64 expression in the diagnosis and prognosis of sepsis.Methods:A prospective case-control study was designed. 30 septic patients and 30 non-septic patients who were admitted to the intensive care unit (ICU) of the PLA Army Characteristic Medical Center from March 2021 to March 2022 were enrolled. After 1, 3, and 5 days of ICU admission, peripheral blood samples were taken from patients. Flow cytometry was used to detect the proportion of monocyte subsets and the expression level of CD64 on the surface, and the difference of expression between patients in two group was analyzed. The risk variables for sepsis were analyzed using single-factor and multi-factor Logistic regression. The diagnostic efficacy of each risk factor for sepsis was determined using the receiver operator characteristic curve (ROC curve).Results:One day after ICU admission, the proportions of monocytes and classic monocytes in white blood cells (WBC) of septic patients were significantly lower than those of non-septic patients [proportion of monocytes to WBC: (4.13±2.03)% vs. (6.53±3.90)%, proportion of classic monocytes to WBC: 1.97 (1.43, 2.83)% vs. 3.37 (1.71, 5.98)%, both P < 0.05]. The proportion of non-classical monocytes in monocytes was significantly higher in septic patients than that in non-septic patients [(11.42±9.19)% vs. (6.57±4.23)%, P < 0.05]. The levels of CD64 expression in monocytes, classic monocytes, intermediate monocytes and non-classic monocytes were significantly higher in sepsis patients than those in non-septic patients [mean fluorescence intensity (MFI): 13.10±6.01 vs. 9.84±2.83 for monocytes, 13.58±5.98 vs. 10.03±2.84 for classic monocytes, 13.48±6.35 vs. 10.22±2.99 for intermediate monocytes, 8.21±5.52 vs. 5.79±2.67 for non-classic monocytes, all P < 0.05]. Multivariate Logistic regression research showed that CD64 in typical monocytes [odds ratio ( OR) = 1.299, 95% confidence interval (95% CI) was 1.027-1.471, P = 0.025] and the proportion of non-typical monocytes in monocytes ( OR = 1.348, 95% CI was 1.034-1.758, P = 0.027) were the independent risk factors for sepsis. ROC curve showed that the area under the ROC curve (AUC) of CD64 expression of classical monocytes, the fraction of non-classical monocytes in monocytes, and procalcitonin (PCT) in the diagnosis of sepsis was 0.871. A correlation analysis revealed a negative relationship between the acute physiology and chronic health status evaluation Ⅱ (APACHE Ⅱ) on the first, third, and fifth days following ICU admission and the expression level of CD64 in patients' classic monocytes ( r values were -0.264, -0.428 and -0.368, respectively, all P < 0.05). Conclusions:Combining the proportion of non-classical monocytes in monocytes, the level of plasma PCT, and the CD64 expression of classic monocytes in peripheral blood has good efficacy in identifying sepsis and assessing its severity.

Computational omics biology model predicts therapy response of refractory acute myeloid leukemia:report of 1 case and review of literature / 白血病·淋巴瘤

Objective:To investigate the value of computational omics biology model (CBM) in treatment of refractory acute myeloid leukemia (AML) patients.Methods:The clinical data of a refractory AML patient who received personalized therapy regimen predicted by Cellworks tumor response index (TRI) test in November 2018 were retrospectively analyzed. The diagnosis, treatment and the therapeutic efficacy were summarized. The literature related to CBM in AML was reviewed.Results:The patient, a 43-year-old female, was diagnosed as AML accompanied with t(6;11)(q27;q23). She failed to respond after 2 courses of induction therapy, and had poor tolerance of chemotherapy. And then the Cellworks TRI test recommended the 3-drug combination regimen of cladribine, trametinib and cytarabine as the optimal chemotherapy regimen. After 1 course of treatment, the patient achieved complete remission and minimal residual disease negative. After remission, the patient successfully underwent haplo-hematopoietic stem cell transplantation. She experienced a prolonged disease-free survival of 19 months and relapsed in November 2020, and passed away in April 2021. The overall survival time was 28.5 months.Conclusions:Cellworks TRI test based on CBM provides a new therapeutic approach for refractory AML patients, and its personalized treatment regimen based on genomics may improve the survival of patients.

Research progress on measurement tools of patient participation in medication safety / 中华全科医师杂志

Patient medication safety is a global concern. Patient participation in the medication process can effectively reduce the occurrence of medication errors. Assessing the patient′s ability to participate in medication safety is conducive to identify problems in the participation process; therefore, to provide reference for corresponding intervention measures and further improve patient participation ability. This article introduces the currently used measurement tools of patient participation in medication safety, and provides reference for improving measurement index system in China.

Quality problems of community home care service in Beijing: a qualitative observatory study / 中华全科医师杂志

Objective:To investigate the quality issues of community home care service in Beijing.Methods:A study on quality of community home care service was conducted from March to May in 2021 in six urban districts of Beijing, and 10 community health service centers were selected as study sites by purpose sampling method. The quality issues of home care service were studied by observing the process of 17 home care services, interviewing medical staff and reviewing relevant medical documents.Results:The study extracted 3 structural quality problems and 6 process quality problems of home care service. The structural quality problems included unclear service scheduling and insufficient qualification of the personnel; lacking special transportations; and lacking home health service standards in some centers. The process quality problems included incomplete material preparation, wearing jewelry during medical procedures, no physical check-up before procedures, not strictly following the aseptic principle in the operation, not properly disposing medical wastes, wrong or missing filling of medical documents.Conclusions:There are some problems in the implementation of community home care service in Beijing, such as insufficient medical personnel and material resources, unclear service scheduling, lack of unified medical service standards, and insufficient quality management. Therefore, these problems should corrected to ensure the quality of community home care services in Beijing.

The scheme for validation of clinical metagenomics sequencing assay / 中华检验医学杂志

Clinical metagenomic next-generation sequencing (mNGS) entails unbiased shotgun sequencing of all microbial and host nucleic acids present in a clinical sample. By analyzing the microbiota diversity, taxonomic, and phylogenetic relationships of clinical specimens, metagenomics related analysis provides an opportunity to investigate substantial biological significance of different microbes. According to the published paper, most studies on mNGS mainly focused on the clinical impact evaluation. However, the studies focused on the analytical performance validation of mNGS before clinical application were rare. Here, a scheme, included intended use, method establishment, assay validation and standard operating protocol, for the laboratory validation of clinical metagenomics sequencing assay was provided by summarizing experiences of clinical laboratory department of Peking Union Medical College Hospital protocol and relevant research. In this scheme, we discussed important topics of mNGS laboratory validation as below: specimen type and pathogen list, bioinformatics pipeline setup, dry lab standard preparation and performance validation, mNGS workflow setup, background nucleotide acid evaluation, wet lab standard preparation and performance validation.

Investigation on dementia management capabilities of general practitioners in urban district of Beijing / 中华全科医师杂志

Objective:To investigate the the dementia management capabilities of general practitioners (GPs) in urban district community health service centers (CHSCs) of Beijing.Methods:A survey on dementia management capabilities of GPs was conducted from July to November 2018, among 479 GPs from 6 urban districts in Beijing randomly selected by two-step sampling method. A self-designed questionnaire was used for survey, which contained demographic information and dementia management capacity of participants. Data were analyzed using multiple linear regression models with SPSS (20.0).Results:The overall score of GPs′ dementia management capacity was 53.9±10.3. The mean score of "detection, assessment and referral of dementia in pre-diagnosis" was 25.5±5.1; the highest score of the item "Can refer the suspected dementia patients to a specialist if necessary" was 4.1±0.8, while the lowest score of the item "Can use NPI-Q for behavioral and psychotic symptoms of dementia assessment" was 3.4±1.0. And the mean score of "treatment and management of dementia in post-diagnosis" was 28.4±6.2; the highest score of the item "Can provide guidance on safety for dementia patients " was 3.7±0.9, while the lowest score of the item "Can provide non-drug guidance on improving cognitive function for dementia patients " was 3.4±1.0. The factors affecting the GPs′ capability of dementia detection, assessment and referral were their attitudes ( t=0.69, P<0.01) toward dementia management in CHSCs and whether they had participated in dementia-related training in the last year ( t=2.18, P<0.05). And the factor affecting the GPs′ capability of dementia treatment and management was their attitudes toward dementia management in CHSCs ( t=9.17, P<0.01). Conclusions:The study shows that generally GPs feel inadequate in dementia management capability; while those with special training and positive attitudes have a higher dementia management capability. Therefore, adequate training and reasonable incentive mechanism may be the countermeasures to improve the capability of dementia management of GPs in CHSCs.

Safety and efficacy of intra-arterial tirofiban infusion in patients with acute cardiogenic cerebral embolism undergoing endovascular reperfusion therapy / 中华内科杂志

Objective:To evaluate the safety and efficacy of intra-arterial tirofiban infusion during endovascular reperfusion therapy in patients with acute cardiogenic cerebral embolism.Methods:Clinical data of 72 patients with acute cardiogenic cerebral embolism caused by large artery occlusion were retrospectively analyzed in Department of Neurology, Strategic Support Force Medical Center from August 2015 to August 2020.Among those, 52 patients were treated with intra-arterial tirofiban, the other 20 patients were treated with control medication. The baseline characteristics, modified thrombolysis in cerebral infarction (mTICI) score of responsible vessels, modified Rankin scale (mRS) score 90 days after operation, incidence of symptomatic intracranial hemorrhage and mortality were evaluated and compared in two groups.Results:The proportion of effective recanalization of the offending vessels (mTICI≥2b) in tirofiban group was higher than that in control group (92.3% vs. 75.0%), but the difference was not statistically significant ( P=0.104). At 90 days after operation, the rate of patients with good prognosis (mRS≤2) in tirofiban group (61.5%) was significantly higher than that in control group (35.0%) ( P<0.05). The incidence of symptomatic intracranial hemorrhage and mortality were comparable between the two groups ( P>0.05). Conclusion:Intra-arterial tirofiban infusion in patients with acute cardiogenic cerebral embolism is effective and feasible, which improves the prognosis without increasing the risk of intracranial bleeding complications.

Application of unprotected perineum delivery technique for natural childbirth in primiparas / 中国基层医药

Objective:To investigate the application effects of unprotected perineum delivery technique for normal vaginal delivery in primiparas.Methods:A total of 260 primiparas who underwent natural childbirth in Tengzhou Central People's Hospital between January 2019 and September 2020 were included in this study. They were randomly assigned to undergo childbirth either with an unprotected perineum delivery technique (study group, n = 130) or the conventional delivery technique (control group, n = 130). Delivery-related indicators were compared between the two groups. Results:The rate of first-degree perineal tear in the study and control groups was 71.52% and 29.23%, respectively, the rate of second-degree perineal tear were 7.16% and 3.16%, respectively, and the episiotomy rate in the two groups were 21.32% and 67.51%, respectively. There were significant differences in rate of first-degree perineal tear, rate of second-degree perineal tear and episiotomy rate between the two groups ( χ2 = 7.19, 7.03, 8.35, all P < 0.05). The length of hospital stay in the study and control group was 3.27 ± 5.79 days and 5.18 ± 7.26 days, respectively. The numerical rating scale score of postpartum perineal pain in the two groups was 1.23 ± 2.51 points and 3.24 ± 2.79 points, respectively. The incidence of postpartum complications was 3.33% and 11.67%, respectively. There were significant differences in length of hospital stay, numerical rating scale score of postpartum perineal pain and incidence of postpartum complications between the two groups ( t = 2.23, 2.06, χ2 = 2.52, all P < 0.05). There were no significant differences in length of second stage of labor and Apgar score in new born infants between the study and control groups (all P > 0.05). Conclusion:Unprotected perineum delivery technique can greatly decrease episiotomy rate, alleviate perineal tear, reduce pain, reduce complications, shorten length of hospital stay, and improve quality of obstetric care.

Developmental coordination disorder in preschool children in Taiyuan / 中国基层医药

Objective:To investigate the current situation of developmental coordination disorder in preschool children in Taiyuan, providing evidence for developing health strategies for preschool children in this city.Methods:We selected 11 126 preschool children aged 3-5 years from 24 kindergartens in Taiyuan using the cluster random sampling method during November-December 2018. Each preschool child was tested with the developmental coordination disorder questionnaire for young children.Results:The incidence of developmental coordination disorder was 3.4%, and the incidence of suspected developmental coordination disorder was 5.4%, and the incidences of which were higher in boys than in girls ( χ2 = 9.46, P < 0.01). The incidence of developmental coordination disorder decreased with aging ( r = -0.06, P < 0.01). The incidence of developmental coordination disorder was negatively correlated with parents' education level and maternal passive smoking during pregnancy ( r = -0.11, P < 0.01; r = -0.12, P < 0.01; r = -0.03, P < 0.01). Lower parents' education level and maternal passive smoking during pregnancy led to a higher incidence of developmental coordination disorder in children. Conclusion:Preschool children from Taiyuan had a lower incidence of developmental coordination disorder than those from economically developed south areas. The higher the gross domestic product in the areas where the kindergartens locate, the lower the incidence of developmental coordination disorder ( r = 0.03, P < 0.01). Environmental factors have a certain impact on developmental coordination disorders in preschool children. Parents, kindergarten teachers, and child health workers should take active intervention measures against the adverse factors in the early development environment of children.

Progress of research on multiple myeloma and gut microbiota / 白血病·淋巴瘤

Intestinal tract is the main place for nutrient digestion and absorption. Gut microbiota is involved in the regulation of host energy storage, metabolism, immunity an soon, and plays a key role in maintaining the body healthy and inducing tumorigenesis. Multiple myeloma (MM) is a malignant plasma cell disease, while the underlying pathogenesis remains unclear. In recent years, with the continuous understanding of gut microbiota, the mechanism of gut microbiota in the development and progression of MM has been explored gradually. Differences in composition and abundance of gut microbiota can be seen in MM patients under different disease states. Besides, gut microbiota also functions through regulating the metabolites. Gut microbiota may be a potential therapeutic target for MM treatment in the future. This paper reviews the progress of research on MM and gut microbiota.

Allogeneic hematopoietic stem cell transplantation for high-risk multiple myeloma patients: a clinical analysis / 白血病·淋巴瘤

Objective:To investigate the effects of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in treatment of high-risk multiple myeloma (MM) patients and its influencing factors of the prognosis.Methods:The clinical data of 44 high-risk MM patients treated with allo-HSCT in Changzheng Hospital Affiliated of Naval Military Medical University from April 2003 to March 2017 were retrospectively analyzed. The overall response rate (ORR), relapse rate, non-relapse-related death (NRM) rate, graft-versus-host disease (GVHD) incidence of patients were also analyzed. Kaplan-Meier was used to analyze the overall survival (OS) rate and progression-free survival (PFS) rate after transplantation. Cox proportional hazard model was used to make regression analysis of the factors affecting the prognosis.Results:Among 44 patients, 38 cases could be evaluated for efficacy after transplantation. The median follow-up time was 111 months (0-216) months, 22 cases survived, 22 cases died, 21 cases relapsed. Before transplantation, complete remission (CR) rate was 29.5%(13/44), very good partial remission(VGPR) rate was 45.5%(20/44), partial remission (PR) rate was 22.7% (10/44), stable disease (SD) rate was 2.3% (1/44); After transplantation, CR rate was 71.7%(27/38), VGPR rate was 13.2% (5/38), PR rate was 13.2% (5/38), the progression of the disease (PD) rate 2.6% (1/38). The 5-year OS rate and PFS rate was 51.8% and 47.8%, the 10-year OS rate and PFS rate was 51.3% and 43.1%, respectively; the 5-year and 10-year cumulative disease relapse rate was 38.6% and 45.4%, the 5-year cumulative NRM rate was 25.0%. Acute GVHD rate was 38.6% (17/44) and grade 3-4 acute GVHD rate was 6.8% (3/44); chronic GVHD rate was 27.3% (12/44). Cox univariate and multivariate analysis showed that the use of bortezomib before transplantation ( HR = 3.461, 95% CI 1.211-9.880, P = 0.020) and post-transplant infection ( HR = 0.283, 95% CI 0.098-0.819, P = 0.020) were independent factors affecting OS after transplantation. Conclusions:Allo-HSCT can overcome the high-risk factors of MM and is worth to try for high-risk MM patients. The use of bortezomib before transplantation and post-transplant infection can be important factors affecting OS after transplantation.

Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population / 中华医学遗传学杂志

OBJECTIVE@#To determine the carrier rate for 21 inherited metabolic diseases among a Chinese population of childbearing age.@*METHODS@#A total of 897 unrelated healthy individuals (including 143 couples) were recruited, and DNA was extracted from their peripheral blood samples. Whole exome sequencing (WES) was carried out to screen potential variants among 54 genes associated with 21 inherited metabolic diseases. Pathogenic and likely pathogenic variants and unreported loss-of-function variants were analyzed.@*RESULTS@#One hundred fourty types of pathogenic/likely pathogenic variants (with an overall number of 183) and unreported loss-of-function variants were detected, which yield a frequency of 0.20 per capita. A husband and wife were both found to carry pathogenic variants of the SLC25A13 gene and have given birth to a healthy baby with the aid of preimplantation genetic diagnosis. The detected variants have involved 40 genes, with the most common ones including ATP7B, SLC25A13, PAH, CBS and MMACHC. Based on the Hardy-Weinberg equilibrium, the incidence of the 21 inherited metabolic diseases in the population was approximately 1/1100, with the five diseases with higher incidence including citrullinemia, methylmalonic acidemia, Wilson disease, glycogen storage disease, and phenylketonuria.@*CONCLUSION@#This study has preliminarily determined the carrier rate and incidence of 21 inherited metabolic diseases among a Chinese population of childbearing age, which has provided valuable information for the design of neonatal screening program for inherited metabolic diseases. Pre-conception carrier screening can provide an important measure for the prevention of transmission of Mendelian disorders in the population.

Effects and mechanism of hydrogen peroxide pretreatment with low molarity on oxidative stress induced apoptosis of mouse bone marrow mesenchymal stem cells / 中华烧伤杂志

Objective: To investigate the effects and mechanism of hydrogen peroxide (HP) pretreatment with low molarity on oxidative stress induced apoptosis of mouse bone marrow mesenchymal stem cells (BMSCs). Methods: The experimental research methods were used. BMSCs were isolated and cultured from two 2-week-old male BALB/c mice by the whole bone marrow culture method. The 3rd-7th passages of cells in logarithmic growth phase were used for the experiments after identification. According to the random number table (the same grouping method below), the cells were divided into 0 μmol/L HP group (without HP, the same below), 25 μmol/L HP group, 50 μmol/L HP group, 100 μmol/L HP group, 150 μmol/L HP group, 200 μmol/L HP group, 250 μmol/L HP group, and 300 μmol/L HP group in which cells were treated by the corresponding final molarity of HP, respectively. The apoptosis rate was detected by flow cytometry (n=4) after 24 hours of culture. The cells were divided into 0 μmol/L HP group, 25 μmol/L HP group, 50 μmol/L HP group, and 100 μmol/L HP group in which cells were treated by the corresponding final molarity of HP, respeclively. After 24 hours of culture, the protein expressions of B-lymphoma-2 (Bcl-2) and Bcl-2-related X protein (Bax) were detected by Western blotting, and the Bcl-2/Bax ratio was calculated (n=3). The cells were divided into 0 μmol/L HP group, 25 μmol/L HP group, 50 μmol/L HP group, 100 μmol/L HP group, 200 μmol/L HP group, and 300 μmol/L HP group in which cells were treated by the corresponding final molarity of HP, respectively. After 24 hours of culture, the protein expressions of glycogen synthase kinase-3β (GSK-3β) and phosphorylated GSK-3β (p-GSK-3β) were detected by Western blotting (n=3). The cells were divided into 0 μmol/L HP group, 50 μmol/L HP group, and 300 μmol/L HP group in which cells were treated by the corresponding final molarity of HP, respeclively, and HP pretreatment group with 50 μmol/L HP being added in advance for 12 h and then 300 μmol/L HP being added. After 24 hours of culture, the morphology and growth of cells were observed by inverted fluorescence microscopy (non-fluorescent condition) and immunofluorescence method, the apoptosis rate was detected by flow cytometry, the protein expressions of Bcl-2, Bax, cysteine aspartic acid specific protease-3 (caspase-3), caspase-9, cleavage caspase-3, cleavage caspase-9, GSK-3β, and p-GSK-3β were detected by Western blotting, and the Bcl-2/Bax ratio was calculated, with all the number of samples being 3. Data were statistically analyzed with one-way analysis of variance and Bonferroni test. Results: After 24 hours of culture, compared with that in 0 μmol/L HP group, the apoptosis rate of cells did not change significantly in 25 μmol/L HP group, 50 μmol/L HP group, or 100 μmol/L HP group (P>0.05) but increased significantly in 150 μmol/L HP group, 200 μmol/L HP group, 250 μmol/L HP group, and 300 μmol/L HP group (P<0.01). After 24 hours of culture, compared with that in 0 μmol/L HP group, the Bcl-2/Bax ratio of cells increased significantly in 25 μmol/L HP group and 50 μmol/L HP group (P<0.05 or P<0.01) but decreased significantly in 100 µmol/L HP group (P<0.05). After 24 hours of culture, compared with those in 0 μmol/L HP group, the protein expression of GSK-3β in cells showed no significant change in 25 μmol/L HP group and 50 μmol/L HP group (P>0.05), the protein expressions of p-GSK-3β in cells significantly increased in 25 μmol/L HP group and 50 μmol/L HP group (P<0.01), the protein expressions of GSK-3β and p-GSK-3β in cells in 100 μmol/L HP group showed no significant change (P>0.05), the protein expressions of GSK-3β in cells in 200 μmol/L HP group and 300 μmol/L HP group were significantly increased (P<0.05). but the protein expression of p-GSK-3β in cells in 200 μmol/L HP group and 300 μmol/L HP group was significantly decreased (P<0.05). After 24 hours of culture, the morphology and growth of cells in 0 μmol/L HP group and 50 μmol/L HP group were similar and normal; in contrast, the cells in 300 µmol/L HP group became smaller and round, with the cell protrusions being shorter or disappeared, the nucleus being cavitated, and the cell abscission being increased significantly; the morphology of most cells in HP pretreatment group was normal, with the shedding of cells being less than that in 300 µmol/L HP group, and the morphology of nucleus being normal. After 24 hours of culture, the protein expression of caspase-9 was similar among the four groups (P>0.05). Compared with that in 0 μmol/L HP group, the apoptosis rate and the protein expressions of cleavage caspase-9, caspase-3, and cleavage caspase-3 of cells in 50 μmol/L HP group showed no significant changes (P>0.05), the Bcl-2/Bax ratio of cells in 50 μmol/L HP group increased significantly (P<0.05), the apoptosis rate and the protein expressions of cleavage caspase-9, caspase-3, and cleavage caspase-3 of cells in 300 μmol/L HP group were significantly increased (P<0.01), while the Bcl-2/Bax ratio of cells in 300 μmol/L HP group was significantly decreased (P<0.05). Compared with those in 300 μmol/L HP group, the apoptosis rate and the protein expressions of cleavage caspase-9, caspase-3, and cleavage caspase-3 of cells were significantly decreased in HP pretreatment group (P<0.05 or P<0.01), while the Bcl-2/Bax ratio of cells was significantly increased in HP pretreatment group (P<0.01). After 24 hours of culture, the protein expressions of GSK-3β and p-GSK-3β of cells in 0 μmol/L HP group, 50 μmol/L HP group, 300 μmol/L HP group, and HP pretreatment group were 1.09±0.14, 0.62±0.17, 1.35±0.21, 0.74±0.34, 0.68±0.03, 0.85±0.08, 0.38±0.10, and 0.54±0.09, respectively. Compared with those in 0 μmol/L HP group, the protein expression of p-GSK-3β of cells was significantly increased in 50 μmol/L HP group (P<0.05) but significantly decreased in 300 μmol/L HP group (P<0.01), while the protein expression of GSK-3β of cells was significantly increased in 300 μmol/L HP group (P<0.05). Compared with those in 300 μmol/L HP group, the protein expression of GSK-3β of cells was significantly decreased in HP pretreatment group (P<0.01), while the protein expression of p-GSK-3β of cells was significantly increased in HP pretreatment group (P<0.01). Conclusions: The molarity of 50 μmol/L may be the optimal molarity of HP to pretreat mouse BMSCs, and 50 μmol/L HP pretreatment can antagonize mitochondrial pathway of oxidative stress induced apoptosis by inhibiting the activity of GSK-3β.

Research progress of quality assessment tools in home care service / 中华全科医师杂志

A quality assessment tool for home care is an indicator system used to evaluate the quality of home care service. The unified and standardized quality indicators for home care can not only help to judge the quality of home care service, but more importantly, it can help identify the gaps and problems in the process, so as to improve the quality of home care service. This article summarizes some of the advanced assessment tools that have been internationally applied for the home health care and to discuss the direction for development of the assessment tools in China.

Application of mechanical assisted extracorporeal membrane oxygenation during heart transplantation / 中华器官移植杂志

Objective:To retrospectively analyze the data of patients undergoing extracorporeal membrane oxygenation (ECMO) during perioperative period of cardiac transplantation and provide objective and reliable evidence for further clinical promotion.Methods:Collect the clinical data of patients undergoing heart transplantation and ECMO support in Fuwai Hospital, analyze the duration of ECMO support, combined use of aortic balloon counterpulsation (IABP), and complications during the supporting period. All statistical analyses were processed by SPSS 23.0 software. Independent sample Student's test was employed for normal distribution and Mann-Whitney U test for abormal distribution. χ2 or Fisher exact test was utilized for comparinge the classification data between groups. Results:All ECMO support models were intravenous-arterial ECMO (V-A ECMO). Eight patients successfully bridging heart transplantation through VA-ECMO. Sixty-one patients (89.7%) who had undergone cardiac transplantation were successfully weaned from ECMO while 48 patients (70.5%) survived and discharged. The most common complications during circulation support are bleeding, acute renal insufficiency, and pulmonary infection. Patients with ECMO support in the operating room had a better rate of survival and weaning off(95.6%, 84.4%) than those with ECMO at the bedside of ICU(72.2%, 27.8%).Conclusions:ECMO can provide adequate circulation and respiratory function support for heart transplant patients, and it is an indispensable treatment for patients to go through the perioperative period of heart transplant surgery smoothly. It is advocated to use IABP combined with ECMO in the early stage and at the same time to increase the perfusion of vital organs, improve the prognosis of patients and obtain good outcomes.

Dynamic changes of cellular immune function in trauma patients and its relationship with prognosis / 中华危重病急救医学

Objective:To study the dynamic changes of cellular immune function in peripheral blood of trauma patients and its role in the evaluation of traumatic complications.Methods:A prospective cohort study design was conducted. Patients with blunt trauma admitted to Chongqing Emergency Medical Center from November 2019 to January 2020 were consecutively enrolled. The peripheral blood samples were collected at 1, 3, 5, 7, and 14 days after injury. The expressions of CD64, CD274, and CD279 on the surface of neutrophils, lymphocytes, and monocytes as well as CD3 +, CD4 + and CD8 + T lymphocyte subsets were measured by flow cytometry. The trauma patients were divided into different groups according to the injury severity score (ISS) and sepsis within 28 days after injury, respectively. The dynamic changes of cellular immune function in different time points after injury and differences between different groups were compared. Furthermore, the correlation with acute physiology and chronic health evaluation Ⅱ (APACHEⅡ), sequential organ failure assessment (SOFA), and ISS were evaluated by Pearson correlation analysis. Results:A total of 42 patients with trauma were finally enrolled, containing 8 severe trauma patients with ISS greater than 25 scores, 17 patients with ISS between 16 and 25 scores, and 17 patients with ISS less than 16 scores. The sepsis morbidity rates were 14.3% (n = 6) within 28 days after injury. CD64 index and CD4 +T lymphocyte subsets were significantly increased at different time points after trauma (H = 15.464, P = 0.004; F = 2.491, P = 0.035). The CD64 index and positive rates of CD279 in neutrophils, lymphocytes, and monocytes were increased with the severity of injury at day 1 and day 3 after injury, respectively. At the first day after injury, CD64 index were 2.81±1.79, 1.77±0.92, 3.49±1.09; positive rate of CD279 in neutrophils were 1.40% (0.32%, 2.04%), 0.95% (0.44%, 2.70%), 12.73% (3.00%, 25.20%); positive rate of CD279 in lymphocytes were 3.77% (3.04%, 5.15%), 4.71% (4.08%, 6.32%), 8.01% (4.59%, 11.59%); positive rate of CD279 in monocytes were 0.57% (0.24%, 1.09%), 0.85% (0.22%, 1.25%), 6.74% (2.61%, 18.94%) from mild to severe injury groups, respectively. The CD64 index in severe injury group was significantly higher than that in moderate group, and the positive rates of CD279 in neutrophils, lymphocytes and monocytes of severe injury patients were higher than those in other two groups (all P < 0.05). At 3rd day after injury, compared to moderate group, severe injury patients had significantly higher CD64 index and positive rate of CD279 in lymphocytes [4.58±2.41 vs. 2.43±1.68, 7.35% (5.90%, 12.28%) vs. 4.63% (3.26%, 6.06%), both P < 0.05]. Compared with the non-sepsis patients, the sepsis patients had significantly higher CD64 index and positive rate of CD279 in monocytes at day 1 after injury [4.06±1.72 vs. 2.36±1.31, 3.29% (1.14%, 12.84%) vs. 0.67% (0.25%, 1.48%), both P < 0.05], and positive rate of CD279 in lymphocytes significantly higher at 3rd day after injury [8.73% (7.52%, 15.82%) vs. 4.67% (3.82%, 6.21%), P < 0.05]. In addition, correlation analysis showed that positive rate of CD279 in lymphocytes was positively correlated with SOFA and ISS, respectively (r values were 0.533 and 0.394, both P < 0.05), positive rate of CD279 in monocytes was positively correlated with APACHEⅡ, SOFA and ISS scores, respectively (r values were 0.579, 0.452 and 0.490, all P < 0.01), positive rate of CD279 in neutrophils was positively correlated with APACHEⅡ and ISS, respectively (r values were 0.358 and 0.388, both P < 0.05). Conclusions:CD64 index and CD279 expression in neutrophils, lymphocytes, and monocytes are significantly related to the severity and prognosis of trauma. Dynamic monitoring the cellular immune function may be helpful for assessing the prognosis of trauma patients.

Genetic study on a consanguineous Chinese family with premature ovarian insufficiency caused by a missense mutation of PSMC3IP gene / 中国医师杂志

Objective:To explore the genetic etiology for a premature ovarian insufficiency (POI) patient from a consanguineous Chinese family, and to provide basis for genetic counseling and fertility counseling.Methods:Whole-exome sequencing was performed using DNA extracted from the blood sample of POI patient. Suspected pathogenic mutation was analyzed by bioinformatics methods and verified by Sanger sequencing. The pathogenicity of the variation was assessed according to the ACMG genetic variation classification criteria and guidelines.Results:A homozygous variation, c. 32G>T (p.G11V), of PSMC3IP was identified in the patient. Bioinformatics analysis revealed that the variation was conserved in different animal species, and this variation was classified as possible pathogenic variation according to the ACMG genetic variation classification criteria and guidelines.Conclusions:The homozygous missense variation of PSMC3IP is the cause of the POI patient in this family. We are reporting for the first time the missense variation in PSMC3IP gene caused POI, which enriched the mutation spectrum of PSMC3IP and provided the basis for genetic counseling and fertility guidance of this family.

The correlation of developing capability of autistic children with social and linguistic parenting behaviors / 中华行为医学与脑科学杂志

Objective:To investigate the correlation between social and linguistic parenting behaviors and developing capability of children with autism.Methods:From August 2020 to December 2020, the social and linguistic parenting behaviors of 302 parents of children diagnosed with autism were investigated in the outpatient department of the hospital.Meanwhile, the data of Gesell scale for children, the social life competence scale for infant and junior middle school students, the autism behavior checklist and the Cancy autism behavior scale were collected.SPSS 20.0 software was used for statistical analysis.Independent sample t test and analysis of variance were used to compare the social and linguistic parenting behaviors of different parents.Pearson correlation analysis was used to analyze the correlation between the social and linguistic parenting behaviors of parents and children's developmental ability and symptom severity. Results:There were no statistically significant differences in children's social and language development parenting behavior between father and mother ( t=1.033, P=0.303; t=-0.312, P=0.756). There were no statistically significant differences in children's social and linguistic parenting behaviors between fathers of different age groups ( F=1.425, P=0.244; F=1.127, P=0.345). Among mothers of different age groups, the social parenting behaviors of <30 years old and 30-34 years old groups were significantly better than those of 35-39 years old group ( F=3.374, P=0.019; LSD: P=0.010, P=0.006). Among fathers, the social parenting behavior( F=4.346, P=0.008; LSD: P=0.020, P=0.001) and social + linguistic parenting behavior in the graduate group and college group were significantly better than those in the high school/vocational group( F=3.965, P=0.012; LSD: P=0.020, P=0.002). Among mothers, the social parenting behavior ( F=2.812, P=0.040; LSD: P=0.008, P=0.023, P=0.009), linguistic parenting behavior ( F=3.769, P=0.011; LSD: P=0.010, P=0.025, P=0.001), social + linguistic parenting behavior ( F=3.654, P=0.013; LSD: P=0.005, P=0.015, P=0.002) in graduate and above groups were significantly better than those in college group, high school/vocational group, junior high school and below groups.The scores of social parenting behavior(40.72±6.80), linguistic parenting behavior(27.20±5.22), and social + linguistic parenting behavior(67.92±11.10) were significantly correlated with children’s fine motor(61.75±16.41)( r=0.193, P=0.001; r=0.153, P=0.009; r=0.190, P=0.001), cognition(68.28±16.83)( r=0.231, P=0.000; r=0.186, P=0.001; r=0.229, P=0.000), language(53.01±18.55) ( r=0.262, P=0.000; r=0.305, P=0.000; r=0.304, P=0.000) and social self-care(61.44±17.85) ( r=0.264, P=0.000; r=0.238, P=0.000; r=0.274, P=0.000). The scores of linguistic parenting behavior and social + linguistic parenting behavior were correlated with children's social life ability (8.65±0.89) ( r=0.142, P=0.046; r=0.140, P=0.049). There was no significant correlation between social parenting behavior, linguistic parenting behavior, social + linguistic parenting behavior and the scores of ABC scale (50.53±21.39) ( r=-0.089, P=0.336; r=-0.115, P=0.215; r=-0.107, P=0.250) and CABS scale (13.96±4.54) ( r=-0.050, P=0.490; r=-0.059, P=0.411; r=-0.058, P=0.421). Conclusions:The social and linguistic parenting behaviors are related to their age and educational level, and are significantly correlated to developing capability of children with autism, but have nothing to do with the severity of children's symptoms.