The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

An effective therapeutic regimen for hepatic fibrosis requires a deep understanding of the pathogenesis mechanism. Hepatic fibrosis is characterized by activated hepatic stellate cells (aHSCs) with an excessive production of extracellular matrix. Although promoted activation of HSCs by M2 macrophages has been demonstrated, the molecular mechanism involved remains ambiguous. Herein, we propose that the vitamin D receptor (VDR) involved in macrophage polarization may regulate the communication between macrophages and HSCs by changing the functions of exosomes. We confirm that activating the VDR can inhibit the effect of M2 macrophages on HSC activation. The exosomes derived from M2 macrophages can promote HSC activation, while stimulating VDR alters the protein profiles and reverses their roles in M2 macrophage exosomes. Smooth muscle cell-associated protein 5 (SMAP-5) was found to be the key effector protein in promoting HSC activation by regulating autophagy flux. Building on these results, we show that a combined treatment of a VDR agonist and a macrophage-targeted exosomal secretion inhibitor achieves an excellent anti-hepatic fibrosis effect. In this study, we aim to elucidate the association between VDR and macrophages in HSC activation. The results contribute to our understanding of the pathogenesis mechanism of hepatic fibrosis, and provide potential therapeutic targets for its treatment.
Humans ; Hepatic Stellate Cells/pathology* ; Receptors, Calcitriol ; Liver Cirrhosis/pathology* ; Macrophages/metabolism*

Objective To investigate the status and influencing factors of sleep in preterm infants at 1 month corrected age.Methods 130 preterm infants admitted to the NICU of 3 tertiary hospitals in Hubei Province were recruited as participants during May 2021 and March 2022.Sleep assessment of preterm infants was conducted at 1 month corrected age.Infants'sleep was assessed using the Brief Infant Sleep Questionnaire(BISQ).Multivariate linear regression model was used to analyze the influencing factors of sleep status(sleep latency,night awakenings,nocturnal sleep duration,daytime sleep duration,24 h sleep duration)of preterm infants.Results A total of 124 preterm infants completed the follow-up at 1 month corrected age.Multiple linear regression analysis showed that feeding patterns and sleep initiation patterns affected the sleep latency;gestational age,mechanical ventilation duration,maternal education level,and sleep initiation patterns were influencing factors of night awakenings;nocturnal sleep duration was influenced by mechanical ventilation duration and feeding patterns;daytime sleep duration and 24 h sleep duration were influenced by feeding patterns and maternal educational level.Conclusion The preterm infant sleep is influenced by gestational age,duration of mechanical ventilation,feeding patterns,maternal education level,and sleep initiation patterns.Neonatology staff should focus on the preterm infants discharged from NICU and develop targeted intervention plans based on the determined influencing factors to improve the sleep status of preterm infants.

Objective: To explore the influence of mindfulness group training on the procrastination, self esteem and self efficacy of middle school students, so as to provide a reference for mental health promotion of middle school students. Methods: A total of 120 cases of middle school students selected by the stratified random sampling were randomly divided into observation group and control group, with 60 cases in each group. The control group did not accept any intervention,the observation group accepted mindfulness group training. The Five factors of Mindfulness Questionnaire (FFMQ), Chinese Irrational Procrastination Scale (IPS) and Active Procrastination Scale (APS), Rosenberg Self esteem Scale (RSES), General Self efficacy Scale (GSES) were measured before and after training. Results: After training, the FFMQ score in the observation group was (122.87±18.48), significantly lower than (106.55±15.36) the control group( t=5.26, P <0.05); the rate of low mindfulness in the observation group was significantly lower than the control group(8.33%, 33.33%, χ 2=11.37, P <0.05). The scores of IPS and APS in the observation group were ( 17.89 ±4.21) and (40.94±9.25), significantly lower than (28.67±5.43) and (55.64±10.82) the control group( t= -12.15 , -8.00, P <0.05); the rate of high procrastination behavior of IPS and APS in the observation group was 20.00% and 23.33% , significantly lower than 38.33% and 41.67% the control group( χ 2=4.88, 4.60, P <0.05). The scores of GSES and RSES scores in the observation group were (34.17±3.42) and (34.71±4.64), significantly higher than (30.09±3.35) and (30.23±4.23) the control group( t=6.60, 5.53, P <0.05); the rate of low self efficacy and low self esteem in the observation group was 15.00% and 18.33%, significantly lower than 33.33% and 36.67% the control group( χ 2=5.50, 5.06, P <0.05). Conclusion Mindfulness group training is conducive to improving the level of mindfulness of middle school students,reducing the procrastination behavior, improving the self esteem and self efficacy, which can improve adolescents physical and mental health.

Objective: To explore the effectiveness of cognitive behavioral therapy on adolescent violent behaviors. Methods: A total of 120 middle school students with violence or violence tendency were selected from Lianbei Middle School in Shijiazhuang and divided into intervention and control group( n =60). The intervention group received comprehensive cognitive behavioral intervention while the control group did not. The changes of violence, violent risk, impulsive behavior and explicit aggressive behavior before and after intervention were compared between the two groups. Results: The scores of personality insult, relational aggression, self abuse, suicide ideation, severe violence dimension and total violence in the intervention group decreased significantly compared to before intervention( t =6.32，7.88，10.05，7.05，9.27，8.01， P <0.05). No similar changes were observed in the control group( t =0.35，0.24，1.01，0.78，0.49，0.53， P >0.05). The scores of personality insult, relational aggression, self abuse, suicide ideation, severe violence and total violence in the intervention group were significantly lower than those in the control group( P <0.05). In the intervention group, the VRS YV score after intervention was significantly lower than that before intervention, and the proportion of individuals with VRS YV score≥27 after intervention decreased significantly compared to before intervention ( P <0.05) and the control group( P <0.05). Conclusion The comprehensive cognitive behavior intervention shows effectiveness in improving the empathy ability and reduce the level of violent risk.

OBJECTIVE: To investigate the clinical features and SLC35A2 variant of a case of congenital disorder of glycosylation type IIm (CDG-IIm), and to identify the possible causes of the disease. METHODS: Trio-whole exome sequencing (WES) was used to analyze the gene variant of the children and their parents. The suspicious gene variants were screened for Sanger verification and the bioinformatics prediction was used to analyze the hazard of variant. RESULTS: The clinical manifestations of the child were epilepsy, global growth retardation, nystagmus, myocarditis and other symptoms. MRI showed brain dysplasia such as wide frontal temporal sulcus and subarachnoid space on both sides. Echocardiography showed left ventricular wall thickening and patent foramen ovale. According to the results of gene detection, there was a heterozygous missense variant c.335C>A (p.Thr112Lys) in SLC35A2 gene. The parents were wild-type at this locus, which was a de novo variant. At the same time, there was no report of this variant in the relevant literature, which was a novel variant in SLC35A2 gene. According to the genetic variant guidelines of American College of Medical Genetics and Genomics, SLC35A2 gene c.335C>A (p.Thr112Lys) variant was predicted to be likely pathogenic (PS2+PM2+PP3). CONCLUSION The variant of SLC35A2 gene c.335C>A(p.Thr112Lys) may be the cause of the disease in the child.
Child ; Congenital Disorders of Glycosylation/genetics* ; Glycosylation ; Humans ; Magnetic Resonance Imaging ; Monosaccharide Transport Proteins/genetics* ; Whole Exome Sequencing

Objective　To evaluate the efficacy and safety of butylphthalide combined with aspirin in treatment of acute cerebral infarction.Methods　CNKI,Wanfang,VIP,sinomed,PubMed,Cochrane library databases were searched by computer from the building time to October 2019.According to the inclusion and exclusion criteria,the eligible RCT was selected and Meta-analysis was carried out by Revman 5.3 soft ware.Results　A total of 1375 cases were included in 15 articles.The results from Meta-analysis demonstrated that the cure rate of the treatment group was superior to that of the single drug ［RR=1.56,95% CI (1.16,2.10),Z=2.93 (P=0.003)］,additional other treatments［RR=1.99,95% CI(1.30,3.05),Z=3.16(P=0.002)］;the effective rate of the treatment group was superior to that of the single drug［RR=1.41,95%CI(1.22,1.64),Z=4.52(P<0.00001)］,additional other treatments［RR=1.24,95%CI(1.12,1.38),Z=4.07(P<0.0001)］;the NHISS score of the treatment group was lower than that of the single drug［MD=-2.79,95%CI(-3.72,-1.86),Z=5.86(P<0.00001)］,additional other treatments［MD=-2.70,95%CI(-3.54,-1.85),Z=6.26(P<0.00001)］.There was no significant difference in safety between the two groups.Conclusion　Butylphthalide combined with aspirin is effective and safe in the treatment of acute cerebral infarction.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

OBJECTIVETo investigate the correlation of serum osteoprotegerin (OPG) with the progression of nonalcoholic fatty liver disease (NAFLD) and the noninvasive prediction and diagnosis of nonalcoholic steatohepatitis (NASH).

METHODSA total of 136 patients with NAFLD were enrolled, and their tissue samples for liver biopsy and serum samples obtained at 1 week after liver biopsy were collected; 83 healthy subjects without the symptoms of fatty liver disease proved by ultrasound examination were enrolled as controls. The physiological indicators including height, body weight, and waist circumference were measured, and body mass index was calculated. The biochemical parameters including alanine aminotransferase (ALT), aspartate aminotransferase (AST), AST/ALT, alkaline phosphatase, gamma-glutamyl transferase, total cholesterol, triglyceride (TG), high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol were measured. Double-antibody sandwich enzyme-linked immunosorbent assay was used to determine the serum level of OPG. The rank sum test, chi-square test, t-test, one-way analysis of variance, Spearman correlation analysis, least significant difference test, and receiver operating characteristic (ROC) curve were applied for statistical analysis of various data.

RESULTSSerum OPG level was correlated with AST and TG (P < 0.05), and was highly correlated with hepatocyte fatty degeneration, ballooning degeneration, intralobular inflammation, portal inflammation, and fibrosis degree (P < 0.01). With the increasing NAFLD activity score (NAS), serum OPG level decreased, and there was a highly negative correlation between them (r = -0.928, P < 0.01). Serum OPG level was significantly lower in NASH patients than non-NASH patients. The area under the ROC curve of serum OPG level was 0.963, and according to the Youden index, its optimal sensitivity and specificity were 96.1% and 97.4%, respectively, at an optimal cut-off value of 242.96 ng/L, which suggested a high diagnostic power.

CONCLUSIONIn NASH patients, serum OPG level decreases significantly. Serum OPG level can be used as an independent predictive factor to evaluate NASH and its severity, as well as a noninvasive diagnostic index for NASH.

Alanine Transaminase ; blood ; Alkaline Phosphatase ; blood ; Aspartate Aminotransferases ; blood ; Biopsy ; Body Mass Index ; Case-Control Studies ; Cholesterol ; blood ; Disease Progression ; Enzyme-Linked Immunosorbent Assay ; Fibrosis ; Humans ; Inflammation ; pathology ; Liver ; pathology ; Non-alcoholic Fatty Liver Disease ; blood ; diagnosis ; Osteoprotegerin ; blood ; ROC Curve ; Triglycerides ; blood ; gamma-Glutamyltransferase ; blood

Objective:To evaluate the efficacy and toxicity of single-agent bendamustine in patients with indolent B-cell non-Hodgkin's lymphoma (NHL) refractory to rituximab. Methods:Between April 2010 and April 2013, 100 patients with rituximab-refrac-tory indolent B-cell NHL from 8 institutions were enrolled. Bendamustine was administered at 120 mg/m2 on days 1 and 2 every 21 days for 6-8 cycles. The primary endpoint was the overall response rate (ORR). The secondary endpoints included disease control rate (DCR), progression-free survival (PFS), overall survival (OS), and safety. Results:One hundred patients with a median age of 56 (rang-ing from 28 to 74) years were recruited in this clinical study. The total number of chemotherapy was 447 cycles, and the median number was 4 cycles. Ninety-three patients could be evaluated for efficacy. Fifteen patients (16.1%) had complete remission (CR), 52 (55.9%) had partial remission (PR), 22 (23.7%) had stable disease (SD), and 4 (4.3%) had progression disease (PD). The ORR and DCR were 72%and 95.7%, respectively. After a median follow-up of 26.6 months (ranging from 2 to 48.4 months), 59 patients (63.4%) had PD.The median PFS was 8.53 (95%CI:6.518-10.542) months, and PFS rate for 1 year was (40.6±5.3)%. Forty-eight patients (48%) had 3/4 grade adverse events, including leucopenia (26%), neutropenia (24%), and anemia (11%). Conclusion:Single-agent bendamustine produced a high rate of objective responses in patients with rituximab-refractory indolent B-cell NHL and could be one of the new op-tions for second-line treatment of these patients. The most common adverse event is hematologic toxicity.