Discussion on mechanism of modified Biminkang Granules in treatment of allergic rhinitis based on network pharmacology and experimental verification / 国际中医中药杂志

Objective:To predict the molecular mechanism of Biminkang Granules in the treatment of allergic rhinitis using network pharmacological methods combined with animal experiments.Methods:Active component targets and allergic rhinitis targets were screened from TCMSP, OMIM, GeneCards, TTD, DrugBank and PharmGKB databases; R language software was used to map the intersection of drug and disease targets; Cytoscape software and String platform were used to construct intersection target PPI network and conduct network topology analysis; DAVID platform was used to perform GO enrichment and KEGG pathway analysis, and perform molecular docking verification on the main active components and key targets. 32 rats were divided into a blank group of 8 and a model group of 24 using a random number table method. Model rats were induced by ovalbumin to establish an allergic rhinitis model. 24 SD rats that were successfully modeled and were randomly divided into model group, Western medicine group, and Biminkang Granules group using a random number table method, with 8 rats in each group. The Western medicine group was gavaged with 1 mg/kg of loratadine solution, the Biminkang Granules group was gavaged with 4.1 g/kg of Biminkang Granules solution, and the blank group and model group rats were gavaged with the same volume of physiological saline once a day for 2 consecutive weeks. The symptoms of rhinitis in each group of rats for 30 minutes were observed and recorded, and the pathological changes of the rat nasal mucosa were observed using HE staining. ELISA method was used to detect the levels of IL-17 and IL-6 in rat serum, and Western blot method was used to determine the expressions of TNF and STAT3 proteins in rat tissues.Results:A total of 41 target proteins of BiMinKang Dranule in the treatment of allergic rhinitis were predicted, and TNF, STAT3 and other core target proteins were obtained by PPI network topology analysis. The biological process of GO involved drug response, inflammatory response, cytokine response, etc.KEGG enrichment is involved in Th17 cell differentiation, lipid and atherosclerosis, IL-17, toll-like receptor and other pathways. Molecular docking results indicated that the main active components had good binding activity to key target proteins.Animal experiments showed that BiMinKang Dranule could improve the inflammatory symptoms of allergic rhinitis rats, down-regulate the expression of IL-17 and IL-6 in blood, and inhibit the expression of TNF and STAT3 proteins.Conclusion:Biminkang Granules can treat allergic rhinitis through multiple active components, multiple target proteins and multiple pathways, and the mechanism may be related to the regulation of Th17 cell differentiation pathway related proteins.

Construction and gene identification of myeloid specific Spi1 knockout mice / 安徽医科大学学报

Objective @#To construct myeloid specific Spi1 gene knockout mice and analyze their genotypes , so as to provide animal model basis for the study of pathological mechanism of diseases and drug targets .@*Methods @#According to the principle of CRISPR/Cas9 technology and C re/LoxP system , sgRNA and Donor vectors were de signed and constructed . The transcript of Exon 2 ( Exon 2) was used as the knockout region , and Loxp elements were placed on both sides of Exon 2 . Cas9 protein , sgRNA and Donor vector were mixed and microinj ected into the fertilized eggs of C57BL/6J mice , the fertilized eggs were transplanted into the uterus of C57BL/6J pregnant female mice , and F0 generation was obtained after 19 ~ 20 days . Positive F0 mice were mated with C57BL/6J mice to ob tain stable F1 Spi1 flox/ + mice . Spi1 flox/ + mice of F1 generation were selfed to obtain Spi1 flox/flox mice . Spi1 flox/flox mated with Lyz2-Cre + mice to obtain Spi1 flox/ + /Lyz2-Cre + mice , and then mated with Spi1 flox/flox , the Spi1 flox/flox/Lyz2-Cre + mice were myeloid specific Spi1 gene knockout ( KO) mice . Spi1 flox/flox/Lyz2-cre - mice were used as wild type (WT) mice . DNA of WT and KO mice was extracted , and the genotypes were identified by agarose gel electro phoresis after PCR amplification . Western blot was used to detect the expression of spleen focus forming virus proviral integration oncogene , Spi - 1 /purine rich box - 1(PU . 1) in immune cells of WT and KO mice .@*Results@#The results of PCR identification showed that the genotype of mice with only 220 bp amplified by flox primer was Spi1 flox/flox homozygote , and the genotype of mice with 700 bp amplified by Lyz2-Cre primer was Lyz2-Cre + . Western blot showed that compared with WT group , the protein PU . 1 was not expressed in bone marrow derived macropha ges (BMDMs ) and peritoneal macrophages (PM) in KO group (P < 0.01) . There was no significant difference of statistics in the expression level of PU . 1 in T cells between KO mice and WT mice . The results of PCR and West ern blot showed that myeloid specific Spi1 KO mice were successfully constructed . @*Conclusion @#The myeloid spe cific Spi1 gene KO mice are successfully constructed and identified , which provides animal model basis for further revealing the potential mechanism of PU . 1 inimmune regulation .

Breeding and genotyping of T lymphocyte-conditional Spi1 knockout mice / 安徽医科大学学报

Objective @#To breed and identify the T lymphocyte-conditional Spi1 knockout mice for the further in- vestgation of the specific role of Spi1-encoded protein PU. 1 . @*Methods @#The Lck-Cre mice were mated with Spi1 flox/flox mice to obtain Lck-Cre ×Spi1 flox/flox mice (T lymphocyte-specific Spi1 knockout mice) , and the genotype was determined by polymerase chain reaction (PCR) and agarose gel electrophoresis . Magnetic beads were used to sort out the splenic T lymphocytes , and the knockdown efficiency of PU. 1 in T cells was detected by Western blot , quantitative real-time PCR ( qPCR) and flow cytometry. @*Results @#The Lck-Cre ×Spi1 flox/flox mouse genotype was stably inherited . Compared with Spi1 flox/flox mice , the expression level of PU. 1 was significantly reduced in splenic T cells of Lck-Cre ×Spi1 flox/flox mice . @*Conclusion @#In this study , the T lymphocyte-specific Spi1 knockout mice was successfully constructed by applying Cre/LoxP system and CRISPR/Cas9 technology , which provided a reliable an- imal model for the subsequent experiments of the specific role of PU. 1 in T cell-related diseases .

Research progress in liver transplantation in patients with situs inversus totalis / 器官移植

Situs inversus totalis (SIT) is a rare congenital condition, with an extremely low incidence. There is no difference between SIT individuals without onset of diseases and healthy counterparts. However, when SIT individuals suffer from diseases, the diagnosis and treatment are highly challenging due to insufficient understanding of SIT populations, especially for those complicated with end-stage liver disease and requiring liver transplantation. It is a huge challenge for surgeons whether SIT individuals serve as donors or recipients of liver transplantation. In this article, recent case reports related to liver transplantation in SIT patients were summarized, and the development, key procedures, clinical prognosis and postoperative complications of liver transplantation in SIT patients were reviewed.

Construction and application value of nomogram predictive model for the prognosis of rectal cancer liver metastases based on SEER database / 中华消化外科杂志

Objective:To investigate the construction and application value of a nomogram predictive model for the prognosis of rectal cancer liver metastases based on Surveillance, Epidemio-logy, and End Results (SEER) database.Methods:The retrospective cohort study was conducted. The clinicopathological data of 6 192 patients with rectal cancer liver metastases in the SEER database ( http://seer.cancer.gov/) and 312 patients who were admitted to The Second Affiliated Hospital of Naval Medical University January 2010 to December 2016 were collected. Of 6 192 patients, there were 3 592 males and 2 600 cases. There were 1 076 cases with age lower than 50 years, 2 862 cases with age as 50-69 years, 2 254 cases with age equal to or more than 70 years, respectively. Of 312 pati-ents, there were 177 males and 135 cases. There were 51 cases with age lower than 50 years, 155 cases with age as 50-69 years, 109 cases with age equal to or more than 70 years, respectively. Patients of the SEER database were set as the training set, and patients in The Second Affiliated Hospital of Naval Medical University were set as the validation set. Univariate and multivariate COX proportional hazards regression models were used to analyze risk factors associated with prognosis, and construct and verify the accuracy of nomogram predictive model for the prognosis of rectal cancer liver metas-tasis. The training set were used to construct the nomogram prediction model, and the validation set were used to verify its performance. Observation indicators: (1) prognostic factors analysis in patients with rectal cancer liver metastases; (2) construction and verificative of the predictive model for the prognosis of rectal cancer liver metastasis. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Count data were described as absolute numbers or percentages, and comparison between groups was conducted using the chi-square test. Comparison of ordinal data was analyzed using the rank sum test. The COX regression model was used for univariate and multivariate analyses. Kaplan-Meier method was used to calculate survival rates, and Log-Rank test was used for survival analysis. Results:(1) Prognostic factors analysis in patients with rectal cancer liver metastases. Results of multivariate analysis showed that age >50 years, TNM Ⅱ-Ⅳ stage, stage T3-T4, stage N1-N2, the number of lymph nodes dissected <12, tumor diameter >5.1 cm, positive carcinoembryonic antigen, peripheral nerve infiltration, radiotherapy and adjuvant chemotherapy, poorly differentiated or undifferented tumor were independent prognostic factors of patients ( P<0.05). (2) Construction and verification of the predictive model for the prognosis of rectal cancer liver metastasis. A nomogram predictive model for the prognosis of rectal cancer liver metastasis was constructed based in the multivariate analysis. The C-index of the nomogram predictive model was 0.91, with area under the curve as 0.726, indicating a good discriminant ability. Results of the calibration curve in validation dataset showed that the colorectal cancer survival rate predicted by the nomogram predictive model was consistent with the actual survival rate. Conclusion:The nomogram predictive model can accurately predict the survival probability of patients with rectal cancer liver metastases.

Influencing factors of anastomotic leakage after laparoscopic intersphincter resection for extremely low rectal cancer and construction of nomogram prediction model / 中华消化外科杂志

Objective:To investigate the influencing factors of anastomotic leakage after laparoscopic intersphincter resection (ISR) for extremely low rectal cancer and construction of nomogram prediction model.Methods:The retrospective case-control study was conducted. The clinicopathological data of 812 patients who underwent laparoscopic ISR for extremely low rectal cancer in the Second Affiliated Hospital of Naval Medical University (Shanghai Changzheng Hospital) from February 2012 to February 2022 were collected. There were 459 males and 353 females, aged (51±11)years. Observation indicators: (1) surgical situations; (2) follow-up; (3) influencing factors of postoperative anastomotic leakage; (4) construction and evaluation of nomogram prediction model for postoperative anastomotic leakage. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M(range). Count data were described as absolute numbers. The COX proportional hazard model was used for univariate and multivariate analyses. The R software(3.5.1 version) was used to construct nomogram prediction model. The receiver operating characteristic (ROC) curve was drawn and the area under curve (AUC) was used to evaluate the efficacy of the nomogram prediction model. The Bootstrap method was used for internal verification and to calculate the average consistency index (C-index). Results:(1) Surgical situations. All 812 patients underwent laparoscopic ISR for extremely low rectal cancer, including 388 cases undergoing partial ISR, 218 cases undergoing subtotal ISR and 206 cases undergoing complete ISR. All 812 patients underwent ileal protective ostomy, and there were 306 cases with double anastomosis and 203 cases with left colic artery preserved, respectively. The operation time and volume of intraoperative blood loss of 812 patients was (179±33)minutes and (33±13)mL, respectively. (2) Follow-up. All 812 patients were followed up for (13.5±0.9)months. Of the 812 patients, there were 62 cases with postoperative anastomotic leakage and the healing time of these cases was (33±6)days. (3) Influencing factors of postoperative anastomotic leakage. Results of multivariate analysis showed that male, neoadjuvant chemoradiotherapy, failure of reser-ving left colic artery were independent risk factors of anastomotic leakage after laparoscopic ISR for extremely low rectal cancer ( hazard ratio=5.98, 4.00, 16.26, 95% confidence interval as 1.66-24.12, 1.30-12.42, 3.00-90.89, P<0.05). (4) Construction and evaluation of nomogram prediction model for postoperative anastomotic leakage. According to the results of multivariate analysis, male, neoadju-vant chemoradiotherapy and failure of reserving left colic artery were used to construct the nomogram prediction model for anastomotic leakage after laparoscopic ISR for extremely low rectal cancer, and the score of these indexes in the nomogram prediction model was 50, 49, 93, respectively. The total score of these index corresponded to the incidence rate of anastomotic leakage. Results of ROC curve showed that the AUC of nomogram prediction model of anastomotic leakage after laparoscopic ISR for extremely low rectal cancer was 0.87 (95% confidence interval as 0.80-0.93, P<0.05), with sensi-tivity and specificity 0.96 and 0.60, respectively. Results of internal verification showed that the C-index of nomogram prediction model was 0.87. Conclusion:Male, neoadjuvant chemoradiotherapy, failure of reserving left colic artery are independent risk factors of anastomotic leakage after laparo-scopic ISR for extremely low rectal cancer, and the nomogram prediction model based on these indexes can predict the incidence rate of postoperative anastomotic leakage.

Neonatal Smith-Kingsmore syndrome: case report and literature review / 中国新生儿科杂志

Objective:To study the clinical and genetic features of neonatal Smith-Kingsmore syndrome (SKS).Methods:The clinical data of a newborn with SKS admitted to our hospital in November 2021 were reviewed. Using "Smith-Kingsmore", "rapamycin gene", "newborn", "premature infant", "the mammalian target of rapamycin", "MTOR", "mTOR", "Smith-Kingsmore syndrome", "megalencephaly", "macrocephaly" and "hemimegalencephaly" as keywords, databases including CNKI, Wanfang Database, VIP database, PubMed, Embase, Web of Science and the Cochrane Library were searched from the date of establishment to January 1, 2022. The clinical and genetic features of neonatal SKS from published literature were summarized.Results:The case admitted to our hospital was a male preterm infant. The presenting symptoms were groan and hypotonia. The facial abnormalities included macrocrania, ocular hypertelorism, depressed nasal bridge and low-set ears. Brain MRI showed lateral ventricle enlargement. Whole-genome sequencing (WGS) showed mTOR gene nonsense heterozygous mutation (NM_004958.4:c.7255G>A:p.Glu2419Lys). Neither father nor mother had any pathogenic gene mutations. The infant had seizure at 2-month and phenobarbital was effective reducing seizure. Gross motor delay was present at 3-month. Sixteen related articles were retrieved, including eight articles with 10 neonatal cases. Among them, 6 cases were male. The main clinical features were megalencephaly or hemimegalencephaly (9/10), facial developmental malformation (8/10), hypotonia (6/10), large-for-gestational age (LGA) infants (5/10), cerebral ventricle dilation (4/10) and abnormal corpus callosum (4/10). All the gene mutations were missense mutations, including c.5395G>A(p.Glu1799Lys) mutation in 5 cases, c.4448G>T(p.Cys1483Phe) mutation in 1 case, c.4448G>T(p.Cys1483Tyr) mutation in 1 case, c.7235A>T(p.Asp2412Val) mutation in 1 case, c.5663T>G(p.Phe1888Cys) mutation in 1 case, c.5390C>T(p.Thr1799IIe) mutation in 1 case.Conclusions:The clinical phenotypes of neonatal SKS are diverse, including megalencephaly, facial malformation, LGA and hypotonia. The brain MR findings included (hemi) megalencephaly, cerebral ventricle dilation and corpus callosum hypoplasia. Most of the gene mutations are missense mutations and c.5395G>A(p.Glu1799Lys) is the hotspot.

Small molecule inhibitors of RORγt for Th17 regulation in inflammatory and autoimmune diseases / 药物分析学报

As a ligand-dependent transcription factor,retinoid-associated orphan receptor γt(RORyt)that controls T helper(Th)17 cell differentiation and interleukin(IL)-17 expression plays a critical role in the pro-gression of several inflammatory and autoimmune conditions.An emerging novel approach to the therapy of these diseases thus involves controlling the transcriptional capacity of RORyt to decrease Th17 cell development and IL-17 production.Several RORyt inhibitors including both antagonists and inverse agonists have been discovered to regulate the transcriptional activity of RORyt by binding to orthosteric-or allosteric-binding sites in the ligand-binding domain.Some of small-molecule inhibitors have entered clinical evaluations.Therefore,in current review,the role of RORyt in Th17 regulation and Th17-related inflammatory and autoimmune diseases was highlighted.Notably,the recently developed RORyt inhibitors were summarized,with an emphasis on their optimization from lead compounds,ef-ficacy,toxicity,mechanisms of action,and clinical trials.The limitations of current development in this area were also discussed to facilitate future research.

A case of laparoscopic assisted ileostomy reduction after multiple abdominal injuries / 中国综合临床

Patients with abdominal surgery history always present different degrees of abdominal adhesion. In the past, it was regarded as a relative contraindication of laparoscopic surgery. With the development of minimally invasive concept, reoperative minimally invasive surgery is proposed in clinic to avoid huge trauma caused by multiple open surgeries. In June 2022, a laparoscopic assisted ileostomy reduction was performed for a patient with history of multiple abdominal injuries in Shanghai Changzheng Hospital. Minimally invasive achieved after huge trauma, and it maximized the benefit to the patient.

Efficacy of dienogest versus gonadotropin-releasing hormone agonist combined with dienogest sequential therapy in the treatment of adenomyosis / 中华妇产科杂志

Objective:To investigate the efficacy and safety of dienogest (DNG) alone and gonadotropin-releasing hormone agonist (GnRH-a) combined with DNG sequential treatment to adenomyosis.Methods:The clinical data of 110 patients with adenomyosis attending the First Affiliated Hospital of Nanjing Medical University from December 2019 to March 2022 were retrospectively analyzed, including 40 patients treated with DNG (2 mg/day) alone (DNG group) and 70 patients treated with sequential DNG (2 mg/day) after 3-6 injections of GnRH-a (GnRH-a+DNG group). The clinical data before and after treatment were compared between the two groups.Results:(1) The dysmenorrhea visual analogue scale (VAS) scores, cancer antigen 125 (CA 125) and cancer antigen 19-9 (CA 19-9) levels at different time periods after treatment were significantly lower than before treatment in both groups (median before treatment: DNG group 70.0 mm, 68.55 kU/L, 22.45 kU/L respectively, GnRH-a+DNG group 80.0 mm, 151.50 kU/L, 20.44 kU/L respectively; all P<0.001). (2) The hemoglobin (Hb) levels of patients in both groups at different time periods after treatment were significantly higher than those before treatment (median: DNG group 102.00 g/L, GnRH-a+DNG group 94.00 g/L; all P<0.001). (3) Treatment with DNG alone did not have a significant effect on uterine volume in patients of DNG group ( P>0.05), and uterine volume decreased significantly in the 15th-24th months of GnRH-a+DNG group compared with that before treatment (median: 167.76 vs 227.77 cm 3; P<0.05). (4) There were no significant differences in hepatic and renal function and coagulation indexes between the two groups before and after treatment (all P>0.05), and no significant abnormal lesions were observed in breast tissue during the follow-up period. (5) The incidence of amenorrhea of GnRH-a+DNG group was higher than that of DNG group, and the incidences of irregular spotting bleeding and breakthrough hemorrhage were lower than those in DNG group. Conclusions:Whether DNG is used alone or in combination with GnRH-a in sequence, it could significantly relieve dysmenorrhea symptoms, improve the level of Hb, reduce the levels of CA 125 and CA 19-9 in patients with adenomyosis, with no adverse effects on coagulation and hepatic or renal function. GnRH-a sequential DNG therapy is superior to DNG alone in improving uterine bleeding patterns and controlling the growth of uterine volume in patients with adenomyosis.

Analysis of skin manifestations in 50 children with inflammatory bowel disease / 中华皮肤科杂志

Objective:To analyze skin manifestations of pediatric inflammatory bowel disease (IBD) .Methods:Children with IBD were collected from pediatric wards in Peking University Third Hospital from January 2010 to January 2022, and their skin manifestations were retrospectively analyzed.Results:A total of 50 children with IBD were included, including 27 with Crohn′s disease and 23 with ulcerative colitis. Twenty-five (50%) patients had skin manifestations, including specific skin manifestations in 11 (22%) and relevant skin manifestations in 11 (22%) . Specific skin manifestations included cutaneous perianal Crohn′s disease in 2 cases, and anal fistula and/or perianal abscess in 9 cases; relevant skin manifestations included erythema nodosum in 5 cases, aphthous stomatitis in 3 cases, psoriasis in 1 case, polyarteritis nodosa in 1 case, and Henoch-Sch?nlein purpura in 1 case. Compared with the ulcerative colitis group, the Crohn′s disease group was more prone to suffer from specific skin manifestations and relevant skin manifestations, and there were significant differences in the prevalence of specific and relevant skin manifestations between the two groups (both P < 0.05) . Of the 27 children with Crohn′s disease, 19 (70%) had one or more skin manifestations, 2 of whom successively presented with 4 different skin manifestations. One child with Crohn′s disease and 1 with ulcerative colitis had 3 different skin manifestations in different periods. The fecal calprotectin level was elevated in all children with skin manifestations, and in 12 (48%) children without skin manifestations. The skin lesions of 5 children were improved or subsided after dose adjustment (1 case) or switch (4 cases) of biological agents. Conclusions:Half of the children with IBD have skin manifestations, and children with Crohn′s disease are more prone to have specific and relevant skin manifestations. Different skin manifestations could be observed in the same child in different periods. Multidisciplinary teamwork is conducive to the overall control of this disease.

Research progress on cerebellar ataxia, neuropathy, vestibular areflexia syndrome / 中华神经科杂志

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is an autosomal recessive hereditary disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibulopathy. Recently a biallelic intronic AAGGG repeat expansion in the replication factor C1 (RFC1) gene was identified as the cause of this disorder. Clinical studies of genetically-confirmed CANVAS in the past 2 years have significantly expanded the clinical phenotype of the disease and the concept of RFC1-related disease was proposed. The clinical manifestations, characteristic auxiliary examination, genetic changes of CANVAS were reviewed and the new diagnostic criteria to improve clinicians′ awareness of the disease was discussed in this paper.

Study on the influence of residents′ psychological contracts on their behavioral intentions from the perspective of incomplete contracts / 中华医院管理杂志

Objective:To analyze the psychological contract satisfaction of contracted residents and its impact on their behavioral intentions under the guidance of incomplete contract theory, for reference in improving the effectiveness of contracted family doctor services.Methods:1 100 contracted residents from nine townships/streets in Shandong province were selected as subjects according to stratified random sampling from September 2019 to June 2020, and a questionnaire survey on the level of satisfaction of contracted residents′ psychological contracts(24 items) and assessment of behavior intentions(9 items) was conducted, and the model of the effect of contracted residents′ psychological contracts on behavior intentions was established and analyzed. The correlation was validated by Pearson test and the structural equation method was used for verifying the model.Results:998 valid questionnaires were recovered. The psychological contract satisfaction score of the contracted residents was 3.45±0.56 and the behavioral intention was 2.81±0.29. Both transactional and relational psychological contracts were correlated with all dimensions of behavioral intention( P<0.01). Concerning the impacts of residents′ psychological contracts on behavioral intentions, the effect coefficients of transactional psychological contracts on loyalty intention, voice intention, exit intention and neglect intention were 0.33, 0.24, -0.25 and -0.49 respectively, with an indirect effect on neglect intention; the effect coefficients of relational psychological contracts on loyalty intention, voice intention, exit intention and neglect intention were 0.26, 0.10, -0.14 and -0.50 respectively, with an indirect effect on advice intention and neglect intention. Conclusions:Residents′ psychological contract has yet not been effectively satisfied. Satisfying and improving the residents′ psychological contract can directly enhance their loyalty intention and reduce their exit intention, indirectly influencing the voice and neglect intentions. In order to enhance the effectiveness of family doctor contracted services and improve the healthcare experience of contracted residents, it is suggested that the relevant departments should actively take the following measures, including carrying out a survey on the psychological contract of contracted residents, building a provincial-city-county-township collaborative linkage platform, and so on.

Progress in the function of IL1RAPL1, an X-linked nonspecific mental retardation-associated gene / 国际儿科学杂志

IL1RAPL1 gene is one of the genes related to X-linked nonspecific mental retardation(MRX), but its pathogenic mechanism has not been fully clarified.Interleukin-1 receptor accessory protein like 1(IL1RAPL1) is a synaptic adhesion molecule located on postsynaptic membrane.The mutation of IL1RAPL1 gene can lead to the deletion or dysfunction of this protein.Recent studies have shown that the IL1RAPL1 protein regulates dendritic formation and mediates the activity of IL-1β molecules on dendritic morphology.This review describes the latest advances in synaptic and neuronal functions of IL1RAPL1, and summarizes some gene mutations that have been found to be associated with mental retardation(MR)and autism spectrum disorder(ASD), to provide evidence for clinical diagnosis and treatment.

Recent advance in encephalitis associated with anti-Kelch-like protein 11 antibody / 中华神经医学杂志

Anti-kelch-like protein 11 (KLHL11) antibody associated encephalitis is a type of paraneoplastic encephalitis associated with testicular seminoma, with marginal encephalitis symptoms appearing in a few cases. Vertigo, hearing loss, and tinnitus are common and unique clinical symptoms in patients with KLHL11 antibody associated encephalitis. Treatment options include immunotherapy, symptomatic therapy, and antitumor therapy for patients with concomitant tumors. In order to improve the understanding of this disease among clinical medical workers, the authors review the epidemiological characteristics, pathogenesis and clinical manifestations of anti-KLHL11 antibody associated encephalitis as follows.

Changes of coagulation function in patients with adenomyosis / 中华妇产科杂志

Objective:To explore the different coagulation state in patients with adenomyosis and its clinical significance.Methods:Clinical data of the patients admitted to the First Affiliated Hospital of Nanjing Medical University from January 2017 to December 2021 were retrospectively analyzed. (1) Differential coagulation state between 25 healthy women and 25 patients with adenomyosis were compared during menstrual and non-menstrual periods. (2) The coagulation indexes of 145 patients with adenomyosis (observation group 1) and 129 patients with cervical intraepithelial neoplasia grade Ⅲ (control group 1) who underwent hysterectomy in non-menstrual period were compared. (3) The coagulation indexes of 154 patients with adenomyosis (observation group 2) and 147 women without myometrial lesions (control group 2) who underwent endometrial curettage during uterine bleeding period were compared. (4) Correlations of coagulation index with cancer antigen 125 (CA 125), cancer antigen 19-9 (CA 19-9) and uterine volume in patients with adenomyosis were analyzed. Results:(1) The coagulation state of each health women during the menstrual and non-menstrual period showed no significant differences (all P>0.05). For the 25 patients with adenomyosis, fibrinogen [FIB; 2.61 g/L(2.50-3.10 g/L)] and D-dimer [0.60 mg/L (0.40-1.00 mg/L)] in the menstrual period were significantly higher than those in the non-menstrual period [2.25 g/L (1.90-2.70 g/L) and 0.27 mg/L (0.20-0.40 mg/L), respectively; both P<0.01], while thrombin time [TT; 16.70 s (16.10-17.40 s)] in the menstrual period was significantly lower than that in the non-menstrual period [17.95 s (17.20-18.40 s); P<0.01]. (2) In the non-bleeding period, D-dimer [0.26 mg/L (0.20-0.40 mg/L)] and platelet count [257.0×10 9/L (212.0×10 9/L-308.5×10 9/L)] of observation group 1 were significantly higher than those of control group 1 (all P<0.01). Besides, FIB ( r=0.237, P=0.004) and D-dimer ( r=0.373, P<0.001) were positively correlated with CA 125, while prothrombin time (PT; r=-0.208, P=0.012) and internationalized normalized ratio of plasma prothrombin time (PT-INR; r=-0.201, P=0.015) were negatively correlated with CA 19-9. (3) In the bleeding period, PT [10.70 s (10.10-11.20 s)] and PT-INR [0.93 (0.90-1.00)] of observation group 2 were significantly lower than those of control group 2 (all P<0.01), while D-dimer [0.41 mg/L (0.20-0.80 mg/L)] was significantly higher than that in the control group 2 ( P<0.001). Furthermore, FIB ( r=0.252, P=0.038) and D-dimer ( r=0.321, P=0.008) were positively correlated with uterine volume, while activated partial thromboplastin time (APTT; r=-0.190, P=0.018) and TT ( r=-0.304, P=0.012) were negatively correlated with uterine volume. (4) During non-menstrual period and uterine bleeding period, APTT and TT in patients of observation group 1 and 2 combined with anemia were significantly lower than those of non-anemia patients (all P<0.05). Conclusion:Patients with adenomyosis have a tendency to hypercoagulability in both the uterine bleeding and non-bleeding periods, which may be related to enlarged uterine volume, increased serum CA 125 and anemia.

Analysis of the barrier-free levels of village clinics of a city in the aging era / 中华医院管理杂志

Objective:To evaluate the barrier-free level of village clinics of a city in the aging era, for references in improving the barrier-free medical environment for the elderlies.Methods:The village dectors of 156 village clinics in 12 counties of a city were selected as the objects of a questionnaire survey from Dec.2020 to Jan.2021, with 6 evaluation indexes established, each set with 1-10 points. This questionnaires was used to survey the barrier-free construction levels of village clinics. The data were statistically analyzed by rank sum ratio and quadrant graph model.Results:The barrier-free buildings of such clinics scored 32.86 points in average. Among the six indexes, the barrier-free access and doors(7.21 points) scored the highest, and the barrier-free parking space(4.71points) and toilets(3.28 points) scored the lowest. All the counties of the city fell into four categories, including 2 counties with high degree of aging-high level of accessibility, 4 counties with low degree of aging-high level of accessibility, 4 counties with low degree of aging-low level of accessibility, and 2 counties with high degree of aging-low level of accessibility, according to the quadrant graph model built based on the aging degrees and the barrier-free levels of village clinics.Conclusions:The barrier-free level of the village clinics in a city needs to be further improved, and the barrier-free transformation of parking space and toilets should also be strengthened in the future. The government should take different measures in view of conditions of each county to improve the accessibility of village clinics and facilitate the health care-seeking of elderlies.

Study on the content and structure of the contracted residents′ psychological contracts by family doctors / 中华医院管理杂志

Objective:To describe the content and analyze the constitutive dimensions of the psychological contracts with residents contracted for family physician services.Methods:Based on a collection of policy documents on family doctor contracting services issued by central government ministries and relevant departments in Shandong province as well as 27 signed family doctor agreements in nine counties (cities, districts) of Shandong province, semi-structured interviews were made to 48 residents in both September 2019-January 2020 period and May-June 2020 period, regarding the verbal promises of family doctors and the needs of these contracted residents. Then the documented and non-documented commitments of the family doctors were extracted in the content analysis method, and a credibility test was made using the Myers reliability test formula.Results:A total of 639 written commitments of family doctors were obtained, covering 5 types of responsibilities and 20 commitments, and the credibility coefficient was 0.88. 322 codes of non-documented commitments were obtained, 4 commitments were added on the basis of documented commitments, and the credibility coefficient was 0.90. The psychological contracts were sorted out in such five areas as technical quality responsibility, cost control responsibility, convenient access responsibility, communication responsibility, and empathic responsibility, by matching the residents′ medical service needs obtained from the interviews, while the first three categories and the last two categories were classified as transactional and relational psychological contracts, respectively, with 10 items of technical quality responsibility accounting for the highest percentage (41.67%).Conclusions:The documented and non-documented commitments of family doctors differed in content and structure. The psychological contract signed by residents was mainly transactional, and residents had higher expectations for family doctors to provide high-quality, convenient and economical services.

Progress in treating SCN2A gene-mediated epilepsy / 国际儿科学杂志

SCN2A (sodium channel, voltage-gated, type Ⅱ, alpha) gene encodes neuronal voltage-gated sodium channel Na V1.2, one of the four sodium channel analogues expressed in the central nervous system, which participates in the initiation and conduction of a series of neuronal action potentials.The dysfunction of SCN2A gene is associated with a variety of neurodevelopmental disorders, and has been confirmed to be one of the main causes of epilepsy, autism spectrum disorder and mental retardation in infants.There is a strong correlation between the type of gene mutations and clinical phenotypes.The clinical symptoms of seizures can be improved by activating the function of sodium channels.This paper describes the related research on SCN2A gene-mediated epilepsy in recent years, and summarizes its clinical characteristics, which provides a new idea for treatment.

A study on the implementation of family physicians contracted service / 中华医院管理杂志

Family physicians contracted service is an important choice to deepen the reform of China′s healthcare reform and achieve the strategic goal of " health for all" . In order to effectively promote the contracted service, the central government has successively issued a number of policy documents, which are echoed by the localities in their proactive explorations, achieving remarkable results. But there are also multiple roadblocks hindering the contracted service to progress. This article referred to the three-circle theory and studied policy implementation from the three dimensions of policy value, policy resources, and policy impetus. A thorough analysis of the problems in the implementation process revealed such main problems as insufficient family physicians, inadequacy of supporting policies and low level of policy acceptance among the young healthy age groups. The follow-up work will promote the long-term implementation of the family physicians contracted service policy by enriching the family physicians team, enriching supporting policies, and focusing on promotions to key age groups.