Objective To analyze the clinical characteristics associated with prenatal diagnosis of FBN 1 gene mutations in a family.This study explores the correlation between gene mutations and their corresponding clini-cal phenotypes,emphasizing the significance of prenatal diagnosis in providing a foundation for subsequent follow-up and intervention.Methods Genomic DNA was extracted from the amniotic fluid of the fetus and the peripheral blood of the parents for trio-whole exome sequencing.The candidate variant identified was subsequently validated using Sanger sequencing.Results The pedigree comprised four generations and nine family members,with four individuals exhibiting slender limbs and toes.Among these,three showed congenital lens dislocation or subluxation.No abnormalities in the cardiovascular system were observed.Genetic testing of symptomatic individuals revealed a heterozygous mutation(c.6158G>T)in the FBN 1 gene.Conclusions The FBN 1 c.6158G>T(p.C2053F)muta-tion was identified as the pathogenic variant responsible for the condition in this family,exhibiting autosomal domi-nant inheritance.To our knowledge,this is the first reported case of the FBN 1 c.6158G>T(p.C2053F)mutation in China.Prenatal diagnosis can facilitate early confirmation of the condition and provide a foundation for subsequent in-terventions and follow-up care.

Objective To analyze the clinical characteristics associated with prenatal diagnosis of FBN 1 gene mutations in a family.This study explores the correlation between gene mutations and their corresponding clini-cal phenotypes,emphasizing the significance of prenatal diagnosis in providing a foundation for subsequent follow-up and intervention.Methods Genomic DNA was extracted from the amniotic fluid of the fetus and the peripheral blood of the parents for trio-whole exome sequencing.The candidate variant identified was subsequently validated using Sanger sequencing.Results The pedigree comprised four generations and nine family members,with four individuals exhibiting slender limbs and toes.Among these,three showed congenital lens dislocation or subluxation.No abnormalities in the cardiovascular system were observed.Genetic testing of symptomatic individuals revealed a heterozygous mutation(c.6158G>T)in the FBN 1 gene.Conclusions The FBN 1 c.6158G>T(p.C2053F)muta-tion was identified as the pathogenic variant responsible for the condition in this family,exhibiting autosomal domi-nant inheritance.To our knowledge,this is the first reported case of the FBN 1 c.6158G>T(p.C2053F)mutation in China.Prenatal diagnosis can facilitate early confirmation of the condition and provide a foundation for subsequent in-terventions and follow-up care.

Objective:To investigate the diagnostic value of soluble interleukin 7 receptors (sIL-7R) in combination with other biomarkers for emergency sepsis.Methods:A prospective study method was used to select 102 emergency patients from the Chuiyangliu Hospital affiliated to Tsinghua University and Baoding First Central Hospital from December 2020 to June 2022. They were divided into sepsis group (80 cases) and non-sepsis group (22 cases), and 20 healthy people in the same period were selected as the control group. The patient data were collected, the relevant biomarker examination was improved and the values were recorded. Using statistical methods, the significance of sIL-7R for the diagnosis of sepsis was assessed, and important indicators related to the presence of sepsis were also screened to construct a model for the early diagnosis of sepsis.Results:The levels of interleukin-6 (IL-6), C-reactive protein (CRP), age and sIL-7R in sepsis group were significantly higher than those in non-sepsis group and control group (all P<0.01). Further, the sIL-7R, age, CRP, and IL-6 were selected as important diagnostic indicators of sepsis by comparing the sepsis and non-sepsis groups using R-language statistical software. Receiver operating characteristic (ROC) curve was plotted, and the area under the curve (AUC) for diagnosing sepsis of the four indexes were calculated as 0.759, 0.622, 0.716 and 0.640, respectively. The diagnostic model based on the four indexes performed better than other indexes, and the AUC value reached 0.869. The AUC of sIL-7R in the diagnosis of sepsis was higher than that of the other three indexes, and the detection of SIL-7R in combination with other inflammatory indexes was significantly higher than that of the four indexes, which had obvious advantages for the early diagnosis of sepsis. Conclusions:sIL-7R is a good biological marker for the early diagnosis of sepsis, and its combination with age, CRP, and IL-6 can better improve the early diagnosis of sepsis.

Objective:To compare the changes of cerebral blood flow (CBF) in bipolar disorder type Ⅱ patients with and without suicidal ideation.Methods:Pseudo-continuous arterial spin labelling (pCASL) was examined with resting-state functional magnetic resonance imaging(rs-fMRI) on all subjects, CBF images of bipolar disorder type Ⅱ depression with suicidal ideation ( n=48), Bipolar Disorder type Ⅱ without suicidal ideation ( n=41), healthy controls ( n=62) at rest were collected. One-way ANOVA and Gaussian random field (GRF) were used to compare the CBF values between the groups to locate the regions with significant change. Results:Compared with the control group, CBF of left superior temporal gyrus (extending to the temporal pole) ( t=3.87, P<0.01; t=4.44, P<0.01) and left putamen ( t=4.04, P<0.01; t=3.19, P<0.01) increased in bipolar disorder type Ⅱ patients with and without suicidal ideation, and CBF of the right posterior cingulate gyrus (extending to the calcarine gyrus) decreased in bipolar disorder type Ⅱ patients with suicidal ideation( t=-4.66, P<0.01). Conclusions:There were abnormal CBF in left superior temporal gyrus and left putamen in bipolar disorder type Ⅱ patients with suicidal ideation and bipolar disorder type Ⅱ patients without suicidal ideation, while the decreased CBF in right posterior cingulate gyrus may be the specific brain change in bipolar disorder type Ⅱ patients with suicidal ideation.

Objective:To compare the changes of cerebral blood flow (CBF) in bipolar disorder type Ⅱ patients with and without suicidal ideation.Methods:Pseudo-continuous arterial spin labelling (pCASL) was examined with resting-state functional magnetic resonance imaging(rs-fMRI) on all subjects, CBF images of bipolar disorder type Ⅱ depression with suicidal ideation ( n=48), Bipolar Disorder type Ⅱ without suicidal ideation ( n=41), healthy controls ( n=62) at rest were collected. One-way ANOVA and Gaussian random field (GRF) were used to compare the CBF values between the groups to locate the regions with significant change. Results:Compared with the control group, CBF of left superior temporal gyrus (extending to the temporal pole) ( t=3.87, P<0.01; t=4.44, P<0.01) and left putamen ( t=4.04, P<0.01; t=3.19, P<0.01) increased in bipolar disorder type Ⅱ patients with and without suicidal ideation, and CBF of the right posterior cingulate gyrus (extending to the calcarine gyrus) decreased in bipolar disorder type Ⅱ patients with suicidal ideation( t=-4.66, P<0.01). Conclusions:There were abnormal CBF in left superior temporal gyrus and left putamen in bipolar disorder type Ⅱ patients with suicidal ideation and bipolar disorder type Ⅱ patients without suicidal ideation, while the decreased CBF in right posterior cingulate gyrus may be the specific brain change in bipolar disorder type Ⅱ patients with suicidal ideation.

Objective To study the effects and security of umbilical cord mesenchymal stem cells transPlantation (UC-MSCs) for Patients with refractory systemic luPus erythematosus(SLE). Methods Forty Patients with refractory SLE were divided into two grouPs at random.All of Patients were treated for glucocorticoid and CTX, then Patients of the 2 grouP were transPlanted for UC-MSCs.All of Patients were observed before and 2 weeks after treatment,1 month,2 months,3 months,6 months,9 months and 12 months of clinical manifestations and laboratory Parameters . Results 2 weeks after treatment, 60%of the 1 grouP were SLEDAI<10 scores, and the 2 grouPs were 90%. There was statistically significant difference between the two grouPs (χ2=7.619, P=0.006). 1 year after treatment, PLT,ALB and C3 of the 2 grouPs were more than the 1 grouPs(P<0.05). SLEDAI,U-Pro,ESR and Hs-CRP of the 1 grouPs were more than the 2 grouPs(P<0.05). WBC,Cr and C4 of the two grouPs had not statistically significant difference(P﹥0.05). The recurrence rate of the 1 grouPs was 45%. Of the 2 grouPs was 15%.There was statistically significant difference between the two grouPs (χ2=4.286, P=0.038). Conclusion It is effective and safe for refractory SLE to transPlant UC-MSCs after using glucocorticoid and CTX. Further observation is required to evaluate long term efficacy and adverse reaction of UC-MSCs.