Objective:To explore the efficacy of dialectical behavior therapy (DBT) in treating self-injury among adolescents with depressive disorders, and to examine the influencing factors of the efficacy.Methods:Fifty-five depressive adolescent in-patients with self-injury behaviors, admitted to the Qingdao Mental Health Center between December 2022 and June 2024 were enrolled and received dialectical behaviour therapy (DBT). Pre- and post-treatment assessments were conducted with a self-compiled questionnaire, Hamilton depression scale-17(HAMD-17), family adaptability and cohesion scale (FACES Ⅱ-CV), simplified coping style questionnaire (SCSQ), and self-injurious thoughts and behaviours interview (SITBI) in all patients.Based on the magnitude of reduction in self-injury after treatment, participants were classified into high-reduction group ( n=17), moderate-reduction group ( n=28), and low-reduction group ( n=10). SPSS 27.0 software was used to perform one-way ANOVA, Spearman correlation analysis and Logistic regression analysis to examine the effects of sex, only-child status, parental divorce, family cohesion and adaptability, and coping style on DBT efficacy. Results:The HAMD-17 score before treatment was 20.0(18.0, 22.0), and the score dropped to 7.0(5.0, 11.0) after treatment, and the difference was statistically significant ( Z=-6.460, P<0.01), yielding the reduction rate of (44.8±0.2)%.Self-injury frequency fell from a median of 5.0(2.0, 9.5) episodes per week before treatment to 0(0, 1.8) after treatment, and this decrease was also significant ( Z=-4.945, P<0.01), representing the reduction rate of (81.6±0.2)%. High positive coping styles ( OR=0.690, P=0.008) and strong family cohesion ( OR=0.491, P=0.007) were associated with better treatment efficacy. Conclusion:DBT can reduce the self-injury behaviors in adolescents with depressive disorders. High family cohesion and the use of positive coping strategies are important factors influencing the therapeutic effect.

Objective:To explore the efficacy of dialectical behavior therapy (DBT) in treating self-injury among adolescents with depressive disorders, and to examine the influencing factors of the efficacy.Methods:Fifty-five depressive adolescent in-patients with self-injury behaviors, admitted to the Qingdao Mental Health Center between December 2022 and June 2024 were enrolled and received dialectical behaviour therapy (DBT). Pre- and post-treatment assessments were conducted with a self-compiled questionnaire, Hamilton depression scale-17(HAMD-17), family adaptability and cohesion scale (FACES Ⅱ-CV), simplified coping style questionnaire (SCSQ), and self-injurious thoughts and behaviours interview (SITBI) in all patients.Based on the magnitude of reduction in self-injury after treatment, participants were classified into high-reduction group ( n=17), moderate-reduction group ( n=28), and low-reduction group ( n=10). SPSS 27.0 software was used to perform one-way ANOVA, Spearman correlation analysis and Logistic regression analysis to examine the effects of sex, only-child status, parental divorce, family cohesion and adaptability, and coping style on DBT efficacy. Results:The HAMD-17 score before treatment was 20.0(18.0, 22.0), and the score dropped to 7.0(5.0, 11.0) after treatment, and the difference was statistically significant ( Z=-6.460, P<0.01), yielding the reduction rate of (44.8±0.2)%.Self-injury frequency fell from a median of 5.0(2.0, 9.5) episodes per week before treatment to 0(0, 1.8) after treatment, and this decrease was also significant ( Z=-4.945, P<0.01), representing the reduction rate of (81.6±0.2)%. High positive coping styles ( OR=0.690, P=0.008) and strong family cohesion ( OR=0.491, P=0.007) were associated with better treatment efficacy. Conclusion:DBT can reduce the self-injury behaviors in adolescents with depressive disorders. High family cohesion and the use of positive coping strategies are important factors influencing the therapeutic effect.

Objective:To analyze the clinical phenotype and genetic etiology of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1).Methods:Clinical data of a 2-year-old boy who had presented at the Affiliated Hospital of Qingdao University in March 2023 for "intermittent limb twitching for 2 years" was collected. Peripheral blood samples were collected from the child and his parents for whole-exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).Results:The child had manifested with distinctive facial features, limb deformities, hypotonia, motor and intellectual delays, and epileptic seizures. WES revealed that he has harbored compound heterozygous variants of the PIGN gene, namely c. 963G>A (p.Q321=) and c. 994A>T (p.I332F), which were inherited from his phenotypically normal mother and father, respectively. Based on the ACMG guidelines, the c. 963G>A was classified as a pathogenic variant (PVS1+ PM2_Supporting+ PM3), whilst the c. 994A>T was classified as a variant of uncertain significance (PM2_Supporting+ PP3). Conclusion:Above discovery has expanded the mutational spectrum of the PIGN gene variants associated with MCAHS1, which may facilitate delineation of its genotype-phenotype correlation.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective To explore the mutation characteristics of neurexin 1(NRXN1)gene in children with Tourette syndrome(TS).Methods A total of 524 children with TS were enrolled.DNA extracted from peripheral blood was sequenced for NRXN1 gene by using target region sequencing which was further verified by using Sanger sequencing.DNAMAN software,SIFT,PolyPhen2,Mutation Taster,FATHMM and ClinPred were used to analyze the hazard of suspected variants.Finally,the genotype and phenotype of the patients with NRXN1 gene variants were analyzed.Results We found 13 variants of the NRXN1 gene in 13 TS patients such as 11 point mutations and 2 deletion mutations including two novel point mutations:c.79G>T(p.A27S)and c.58G>T(p.G20C).The other nine point mutations and two deletion mutations were c.3523A>G(p.I1175V),c.4180A>T(p.T1394S),c.1697A>T(p.H566L),c.3715G>A(p.A1239T),c.878A>C(p.N293T),c.475C>T(p.P159S),c.320C>T(p.T107M),c.365A>G(p.Q122R),c.611T>A(p.L204Q)c.68_79del(p.G23_G26del),c.65_79del(p.G22_G26del).Bioinformatics analysis showed that the six gene variants c.58G>T,c.1697A>T,c.475C>T,c.365A>G,c.878A>C,c.79G>T were relatively harmful.There were 6 children with different parts of the tic,1 child with obsessive-compulsive symptoms,1 child with emotional instability,3 children with irritability,6 children did not have repetitive language,attention deficit,hyperactivity disorder,sleep disorder and depression.Conclusion NRXN1 gene mutation sites are detected in TS children,which expands the NRXN1 mutation spectrum.Children with different gene variants exhibit different clinical manifestations and the relationship between genotype and phenotype need further exploration.

Objective:To investigate the association between gene polymorphisms in vitamin D receptor(VDR) and Tourette syndrome (TS).Methods:The genetic contributions of VDR FokI (rs2228570), BsmI (rs1544410), and Cdx2 (rs11568820) polymorphisms were genotyped by TaqMan allelic discrimination real-time (RT)-PCR, which evaluated by a case-control analysis in 417 TS patients and 442 healthy controls, and followed by a family-based study in 417 TS trios.Chi-square test and relative risk analysis were conducted by IBM SPSS 23.0 software.Results:FokI (rs2228570) had three genotypes(CC=109, CT=235, TT=73); BsmI (rs1544410) had three genotypes(AA=2, AG=45, GG=370); Cdx2 (rs11568820) had three genotypes(AA=71, AG=200, GG=146). No significant difference in genotype ( χ2=5.516, P=0.063; χ2=3.466, P=0.177; χ2=0.561, P=0.755, respectively) or allele frequencies( χ2=0.840, P=0.359; χ2=3.376, P=0.066; χ2=0.051, P=0.822, respectively)of FokI, BsmI and Cdx2 were identified between TS patients and control groups.No significant over-transmission was identified for these three polymorphisms among 417 TS trios in the family-based study (TDT for FokI: χ2=0.009, P=0.962; for BsmI: χ2=1.220, P=0.320; and for Cdx2: χ2=0.260, P=0.646). Haplotype relative risk (HRR) analysis and haplotype-based haplotype relative risk (HHRR) analysis showed no significant difference in allele frequencies distribution of FokI, BsmI and Cdx2 (all P>0.05). Conclusion:VDR receptor gene polymorphism has no effect on TS susceptibility in the Chinese Han population. However, a potential role of VDR should be explored in more polymorphisms, different populations and larger samples.

Humans ; COVID-19 ; Consensus ; SARS-CoV-2 ; China

A 56-year-old male patient with undifferentiated type of schizophrenia received one disintegrating tablet of aripiprazole 10 mg orally once daily and the dose of the drug was increased to 30 mg once daily on day 21. Thereafter,the patient′s mental symptoms improved markedly. After receiving aripiprazole for 4 months,the patient developed difficulty in walking. Extrapyramidal symptoms (EPS) induced by aripiprazole was considered. The drug dose was reduced to 25 mg once daily,but the symptoms did not improve,subsequently,hypermyotonia,dysphagia,salivation,mask face,and urinary incontinence appeared. Although the dose of aripirazole was reduced to 5 mg once daily,it did not help to control EPS. Aripirazole was stopped,and 3 days later,the patient′s EPS became aggravated. Intravenous infusions of 0.9% sodium chloride injection 500 ml,Ⅳ vitamin C 2 g,Ⅳ vitamin B6 0.5 g as well as dextrose and sodium chloride injection 500 ml once daily were given to promote drug excretion. The next day,EPS relieved and on day 5,basically faded.

A 56-year-old male patient with undifferentiated type of schizophrenia received one disintegrating tablet of aripiprazole 10 mg orally once daily and the dose of the drug was increased to 30 mg once daily on day 21. Thereafter,the patient′s mental symptoms improved markedly. After receiving aripiprazole for 4 months,the patient developed difficulty in walking. Extrapyramidal symptoms (EPS) induced by aripiprazole was considered. The drug dose was reduced to 25 mg once daily,but the symptoms did not improve,subsequently,hypermyotonia,dysphagia,salivation,mask face,and urinary incontinence appeared. Although the dose of aripirazole was reduced to 5 mg once daily,it did not help to control EPS. Aripirazole was stopped,and 3 days later,the patient′s EPS became aggravated. Intravenous infusions of 0.9% sodium chloride injection 500 ml,Ⅳ vitamin C 2 g,Ⅳ vitamin B6 0.5 g as well as dextrose and sodium chloride injection 500 ml once daily were given to promote drug excretion. The next day,EPS relieved and on day 5,basically faded.