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

Objective To investigate the efficacy of family therapy in the treatment of adolescent depression and improvement of social performance.Methods 86 adolescent depressive patients were divided into drug therapy group(group A,n =43) and drug combined with family therapy group (group B,n =43) according to the order of inclusion.They were all treated for 12 weeks.Before and after the treatment,they were all evaluated with Hamilton Depression Rating Scale(HAMD-24),Personal and Social Performance scale (PSP) and Youth Self-Report scale(YSR).The changes of scores were compared with each other.Results The average scores of HAMD,PSP and YSR in group B before and after treatment was (27.30 ± 4.60) (81.47 ± 1.87) (73.28 ± 1.30) and (15.36 ±3.60) (12.61 ± 2.10) (9.46 ±2.80) (6.30 ± 2.20),(82.76 ± 1.09) (84.51 ± 1.32) (86.51 ±1.32) (92.05 ± 1.72),(71.42 ± 1.45) (69.09 ± 1.33) (67.47 ± 1.47) (64.23 ± 1.90) respectively.The average scores of HAMD,PSP and YSR in group A before and after treatment was (26.90 ± 5.10) (81.45 ± 1.85)(73.26 ± 1.28)and (19.42 ±2.90)(16.43 ±2.60)(13.50 ±3.80)(7.60±2.80),(82.00 ±1.14) (83.67 ±1.23) (85.88 ± 1.27) (87.98 ± 1.35),(72.84 ± 1.29) (70.07 ± 1.26) (68.84 ± 1.54) (66.02 ± 1.55) respectively.The difference of the scores after two-week treatment was significant statistically (P＜ 0.05).The difference of the deduction rate of the scores after four-week treatment was significant statistically (P ＜ 0.05).Conclusion Family therapy has better and faster efficacy in the treatment of adolescent depression,and it can significantly improve their social performance.

Objective To determine the effects of maternal rats exposed to chronic unpredictable stress before pregnancy on the behavior and neurobiology of the mother and their offspring.Methods Two-month Virgin female Sprague-Dawley(SD) rats were applied to study.Females were housed with sexually experienced males (ratio 3:1) for propagation after 21-day chronic unpredictable stress.The behaviors of rats and their two-month-offspring were tested.The two-month rats were injected intraperitoneally with BrdU,then the brains were removed and 20 μm frozen sections were used to detect the neurogenesis of hippocampus.Results 1.Open field test:after lactation,CUS + Pre group ((720.52 ± 238.99) cm),CUS group ((995.62 ± 191.77) cm),CON group ((464.95 ±210.11)cm) and CON + Pre group((740.76 ± 281.48)cm) had statistic difference in total distance(P ＜ 0.05).The total distance((1281.10 ±247.89)cm) and border distance((1153.20 ±238.19)cm) in female two-monthprogeny were higher than these in male two-month-progeny ((1074.70 ± 263.35) cm,(957.28 ± 82.94) cm) in CUS + Pre group (P ＜ 0.05).2.Sucrose consumption test:after lactation,the sucrose intake ((13.00 ± 3.46) g)and sucrose consumption percentage((87.00 ±9.01)％) in CUS + Pre group were higher than that in CUS group ((8.13 ± 3.36) g,(79.06 ± 6.45) ％,P ＜ 0.05).The sucrose intake ((12.43 ± 3.31) g) and sucrose consumption percentage((86.90 ± 5.80)％) in CON group were higher than that in CUS group ((8.13 ± 3.36) g,(79.06 ± 6.45) ％,P ＜ 0.05).The sucrose intake ((14.71 ± 4.39) g) and sucrose consumption percentage ((91.54 ± 1.89) ％) in CON + Pre group were significantly higher than those in CUS group ((8.13 ± 3.36) g,(79.06 ± 6.45) ％) (P ＜ 0.01).3.Immunohistochemistry:there was no statistic difference on the new neuron in dentate gyrus of hippocampus in both female and male two-month-progeny of CUS group and CON group((1.18 ±0.37) cells,(1.24 ± 0.41) cells,(1.38 ± 0.47) cells,(1.41 ± 0.35) cells) (P ＞ 0.05).Conclusion The 21d CUS before pregnancy induce the anxiety-like behavior and depressive-like behavior in maternal rats,and lactation can attenuate influence of stress to protect maternal rats.There is no effect on the behavior and cell proliferation of hippocampus in adult progeny by chronic unpredictable stress exposure before pregnancy.However,there is the difference of anxiety-like behavior in both female and male two-month-progeny.

Objective To evaluate the effects of different concentrations of dexmedetomidine on large-con-ductance Ca2+-activated K+ (BKca) channels in the rat mesenteric arterial smooth muscle (MASM) cells.Methods Sprague-Dawley rats of both sexes,weighing 180-220 g,were used in this study.Single MASM cell was freshly isolated from mesenteric arteries in two steps.Ten cells were chosen and studied.When holding potential was 40 mV and the concentration of free calcium ions was 10-7 mol/L,inside-out patch-clamp technique was used to record the single BKCa channel current before and after application of different concentrations of dexmedetomidine (0,10-9,10-8,10-7,10-6,10-5 mol/L).Total open probability (NPo),amplitude (Am),mean open time (To) and mean close time (To) of single BKca channel were observed and recorded.Results Compared with the baseline value,dexmedetomidine 10-7,10-6 and 10-5 mol/L increased NPo in a concentration-dependent man-ner,and dexmedetomidine 10-9,10-8,10-7,10-6,10-5mol/L shortened Tc (P ＜0.05 or 0.01).Compared with the value obtained when the concentration of dexmedetomidine was 10-9 mol/L,Tc was significantly shortened when the concentration of dexmedetomidine was 10-8 mol/L (P ＜ 0.05),and no significant change was found in Am and To obtained when different concentrations of dexmedetomidine were applied (P ＞ 0.05).Conclusion Dexmedetomidine 10-7,10-6 and 10-5 mol/L activate BKca channels in rat MASM cells in a concentration-depen-dent manner,which is one of the mechanisms of decrease in blood pressure by dexmedetomidine.

Objective To investigate the influence of comprehensive psychological intervention and cognitive therapy on cognitive function in schizophrenia.Methods A total of 80 patients with schizophrenia were randomly divided into the comprehensive psychological intervention group (group A,n=40)and the cognitive therapy group (group B,n=40).Before and after 8-week treatment,the influence on cognitive function were measured with WAIS-RC,WMS,WCST and TESS were compared between two groups.Results After eight weeks,the intelligence quotient,remembrance quotient ,sustained errors and random errors in group A (110.52±18.03,110.78±1.15.42,15.48±9.82,17.46±13.28) were higher than that in group B (96.64±18.26,102.23±13.4,20.35±11.47,24.92±13.71).The difference between the two groups was found in improving cognitive function in schizophrenia patients(P＜0.05).Conclusion Cognitive therapy could improve cognitive function in schizophrenia,but comprehensive psychological intervention would do much better.