Genetic analysis of two Chinese pedigrees affected with Hereditary hypofibrinemia due to missense variants / 中华医学遗传学杂志

OBJECTIVE@#To retrospectively analyze the clinical phenotypes and genetic variants in two Chinese pedigrees affected with Hereditary hypofibrinemia (IFD) and explore their molecular pathogenesis.@*METHODS@#Two probands and their pedigree members were admitted to the First Affiliated Hospital of Wenzhou Medical University on March 30, 2021 and May 27, 2021, respectively. Clinical phenotypes of the probands were collected, and blood clotting indexes of the probands and their pedigree members were determined. Variants of the FGA, FGB and FGG genes were analyzed by Sanger sequencing, and candidate variants were verified by sequence comparison. Bioinformatic software was used to analyze the conservation of the amino acids and pathogenicity of the proteins. Alteration in protein structure and intermolecular force before and after the variant was analyzed by simulating the protein model.@*RESULTS@#Proband 1, a 18-year-old male, had significantly low plasma fibrinogen activity (Fg:C) and plasma fibrinogen antigen (Fg:Ag), respectively at 0.80 g/L and 1.00 g/L. Proband 2, a 43-year-old male, had slightly low Fg:C and Fg:Ag at 1.35 g/L and 1.30 g/L, respectively. The Fg:C and Fg:Ag of proband 1's father, proband 2's father and son were also below the normal level. Genetic testing showed that proband 1 had harbored a heterozygous missense variant of c.688T>G (p.Phe230Val) in exon 7 of the FGG gene, which was inherited from his father. Proband 2, his father and son all had harbored a heterozygous variant of c.2516A>C (p.Asn839Thr) in exon 6 of the FGA gene. Homology analysis showed that the Phe230 and Asn839 residues were highly conserved among homologous species. Bioinformatic analysis predicted that both p.Phe230Val and p.Asn839Thr were pathogenic variants.@*CONCLUSION@#Analysis of protein simulation model showed that the p.Asn839Thr variant has changed the hydrogen bo`nd between the amino acids, thus affecting the stability of the protein structure. The heterozygous missense variants of p.Phe230Val and p.Asn839Thr probably underlay the IFD in the two pedigrees.

Relationship of treatment outcome with thyroid hormone content in patients with biphasic disorder and depressive disorder / 中国基层医药

Objective:To explore the correlation between thyroid hormone content and treatment outcome in patients with biphasic disorder (BPD) and depressive disorder (DPD) before and after treatment.Methods:From June 2017 to June 2019, 72 patients with BPD(BPD group), 46 patients with DPD(DPD group) who met the diagnostic criteria of International Statistics and Classification of Disease and Health problems-10th Edition (ICD-10) in the Third People′s Hospital of Jiangmen, and 20 normal controls(control group) in our Hospital were enrolled in this study.The serum concentrations of total thyroxine (TT 4), total triiodothyronine (TT 3) and high sensitivity thyrotropin (HS-TSH) were measured at baseline, and the above hormone concentrations were measured in the study group after treatment for 12 weeks.The 17 Hamilton depression scale (HAMD-17) and Hamilton anxiety scale (HAMA), Bech-Rafaesdn Mania Rating Scale(BRMS) were used to evaluate the severity of symptoms at baseline and at the end of treatment.The curative effect was compared between the two groups, and the correlation between the curative effect (score reduction rate) and thyroid hormone level (concentration change) was observed. Results:At baseline, the concentrations of TT 4, TT 3 of patients with depressive phase in BPD group[(54.75±12.26)nmol/L, (86.26±15.29)nmol/L] were lower than those in the control group[(145.64±12.15)nmol/L, (156.78±36.54)nmol/L], and the TSH level in BPD group[(68.97±5.98)mIU/L]was higher than that in the control group[(45.59±9.28)mIU/L]; the levels of TT 4, TT 3 of patients with manic and mixed phase in BPD group[(166.75±12.25)nmol/L, (186.36±35.15)nmol/L] were higher than those in the control group, and the level of TSH in BPD group[(7.87±3.56)mIU/L] was lower than that in the control group; the concentrations of TT 4, TT 3 in DPD group[(65.59±23.11)nmol/L, (92.21±19.36)nmol/L] were lower than those in the control group, and the TSH level in DPD group[(69.38±14.75)mIU/L] was higher than that in the control group, the differences were ststistically significant ( t=5.867, 4.657, 2.369, 2.789, 3.247, 6.356, 4.358, 3.265, 2.365, all P<0.05). After treatment for 12 weeks, there were no statistically significant differences in TT 3, TT 4, HS-TSH concentrations among the three groups (all P>0.05). After treatment for 12 weeks, the scores of HAMa+ d, BRMS in BPD group and DPD group were significantly lower than those at baseline ( t=8.854, 12.321, 6.756, all P<0.05). The score of HAMa+ d was negatively correlated with TT 4, TT 3 concentrations, and positively correlated with HS-TSH concentration.The score of BRMS was positively correlated with TT 4, TT 3 concentrations, and negatively correlated with HS-TSH concentration. Conclusion:The level of thyroid hormone in patients with biphasic disorder and depressive disorder is different from that in normal subjects, and the level of thyroid hormone is closely related to the curative effect.

Clinical efficacy of acupuncture and moxibustion in the adjuvant treatment of internet addiction disorder / 中国基层医药

Objective@#To investigate the clinical efficacy and safety of acupuncture and moxibustion in the adjuvant treatment of internet addiction disorder.@*Methods@#From January 2013 to April 2015, a total of 38 patients with internet addiction disorder were randomly selected and divided into study group(19 cases) and control group(19 cases) according to the odd and even order of hospitalize.The control group received psychological therapy, antianxiety therapy and antidepression therapy.The study group received acupuncture and moxibustion in addition to all therapies of the control group.The patients were treated for 8 weeks.Chiese Internet Addiction Scale(CIAS), Family Assessment Device(FAD), HAMD, HAMA were used to determine the internet addiction severity and social function of the two groups at baseline and the 8th weekend of treatment, and TESS at the 8th weekend of treatment.@*Results@#At the 8th weekend of treatment, the scores of CIAS, FAD, HAMA+ HAMD in the two groups were all significantly lower than baseline[(86.8±13.6)points vs.(38.3±11.5)points, t=11.872, (85.6±12.3)points vs.(54.6±18.2)points, t=7.123; (185.8±31.5)points vs.(80.6±29.4)points, t=10.643, (182.7±12.7)points vs.(110.5±32.3)points, t=9.068; (53.4±7.6)points vs.(21.7±9.7)points, t=11.215, (55.2±8.3)points vs.(35.2±8.3)points, t=7.428)](all P<0.05). At the 8th weekend of treatment, the scores of CIAS, FAD, HAMA+ HAMD in the study group were significantly lower than those in the control group(t=3.301, 2.985, 10.825, all P<0.05). There was no statistically significant difference in the incidence rate of side effects between the two groups(all P>0.05).@*Conclusion@#Acupuncture and moxibustion is effective and safe in the treatment of patients with internet addiction disorder.

Small external fixation devices combined with flap for fracture and dislocation of articulations interphalangeaes / 中华显微外科杂志

Objective To explore the outcome of small external fixation devices combined with flap for fracture and dislocation of articulationes interphalangeaes.Methods Twelve cases (13 fingers) with fracture and dislocation of articulationes interphalangeae were treated with small external fixation devices combined with flap.Blood vessel grafting and crossing anastomosis were performed.The area of the flap was 1.0 cm ×1.5 cm -2.5 cm × 3.0 cm.Results Follow-ups lasting from 6 months to 2 years showed that all fingers and flaps were survived postoperatively.Fixation average time of small external fixation was 37 days.Fracture healing was found in all cases with satisfactory effect and with better apperance.Conclusion Small external fixation devices combined with flap was proper for fracture and dislocation of articulationes interphalangeae.

Relationship between adjacent segment degeneration and clinical outcome after lumbar spine fusion / 中国矫形外科杂志

[Objective] To determine the relationship between the adjacent segment degeneration(ASD)and the clinical outcome after lumbar spine fusion.[Methods]Totally 436 patients undergoing posterolateral lumbar fusion were followed up for 58.13 months(26~114 months).The patients were divided into 3 groups according to the number of the fusion segments:1 segment,2 segments and 3 or more segments.UCLA grading scale was used to evaluate the degeneration of the adjacent segments.Cinical outcome was evaluated according to the criteria established by Hou SH.[Results]Adjacent segment degeneration(ASD)occurred in 58 patients,including 14 in group A,27 in group B and 17 in group C.Forty-nine patients had their ASD above the fusion level and 9 below the fusion level.For all the 14 patients in group A,the degenerative grade increased by 1 grade.Of the 27 patients in group B,16 increased by 1 grade,7 by 2 grades,and 4 by 3 grades.Of the 17 patients in group C,4 increased by 1 grade,8 by 2 grades and 5 by 3 grades.For the clinical outcome,7 patients in group A increased by 1 grade.In group B,13 patients increased by 2 grade and 5 patients increased by 3 grades.For the clinical effect degrees,7 cases decreased by 1 degree in group A.In group B,13 cases decreased by 1 degree and 6 decreased by 2 degrees.[Conclusion]No significant relationship was found between the adjacent segment degeneration and the clinical outcome.Careful attention is needed for avoidance of multi-segmental fusion.

Study on the aberrant methylation and protein of p16 gene in patients with colorectal cancer / 中华检验医学杂志

Objective To explore whether hypermethylation in the promoter of p16 gene and protein of p16 were associated with development and clinicopathological characteristics of colorectal cancer. Methods Methylation-specific PCR ( MSP) and immunohistochemistry SP were used to detected hypermethylation of p16 gene and p16 protein in tumor tissues from 32 patients with colorectal cancer. Results The hypermethylation of p16 gene was detected in 40. 6% of tumor tissues. The protein of p16 promoter was detected in 75% of tumor tissues. The hypermethylation of p16 gene was detected in 63% in Dukes stages of C and D tumors. The protein of p16 promoter was detected in 69% of tumor tissues. The hypermethylation of p16 gene was detected in 25% in the stages of A and B tumors. The protein of p16 promoter was detected in 81% of tumor tissues. The hpermethylation of p16 gene was detected in 100% in low differentiated carcinomas. The protein of p16 promoter was detected in 20% , the hypermethylation of p16 gene was detected in 30% , in the high and mediate differentiated carcinomas, the protein of p16 promoter was detected in 85%. Furthermore, the hypermethylation of p16 gene was detected in 63% in the lymph node metastasis and 25% in without lymph node metastasis. The protein of p16 promoter was detected in 65% in rectum and 100% in colon. Conclusions Our study demonstrated that p16 hypermethylation and protein were associated with the development of colorectal cancer and could be used as a putative prognostic indicator for this malignancy.

Influence of hemodialysis on peripheral blood T cell subsets in uremia patients / 中国实用内科杂志

Objectives To evaluate the function of peripheral blood T cell subsets in uremia patients and the influence of hemodialysis on them.Methods Expression of CD3,CD4 and CD8 antigen on peripheral blood T cells from 30 cases of hemodialysis and non-hemodialysis patients was evaluated by flow cytometry.Fifteen volunteers were also examined as normal controls.Results The expression of CD3,CD4,CD8 and CD4 +/CD8 + ratio in non-hemodialysis group(NHD) was significantly lower than that of control group(P

Role of Interleukin-10 in the Maintenance of Hemodialysis in Patients With Immune Deficiency / 中国医科大学学报

Objective: To determine the role of interleukin-10 (IL-10) secreted by peripheral blood mononuclear cells (PBMC) in the maintenance of hemodialysis in patients with immune deficiency and to evaluate thot if IL-10 can bea biocompatibility index of dialyzer. Methods: Twenty patients with end-stage renal disease were divided into maintenance hemodialysis group (MHD group) and non-hemodialysis group (NHD group). Patients in MHD group were dialyzed with cellulose (CA group) and polysulfone (PS group) dialyzers respectively. Ten healthy persons were as controls (CON group). The levels of IL-10 in supernatants of PBMC cultured with or without lipopolysaccharide (LPS) were measured by using ELISA method in all groups. Results: There was no spontanous IL-10 secretion in all groups. The level of IL-10 in all supernatants secreted by PBMC cultured with LPS increased significantly, and the increased levels of IL-10 in MHD and NHD patients were lower than that in controls. The PBMC stimulated by LPS secreted more IL-10 in patients dialyzed by PS with better biocompatibility than those of CA dialyzers with poor biocompatibility. Conclusion: Patients immune deficiency could be improved by using better biocompatible dialyzers more than poor ones, particularly in humoral immunity induced by urimia. The IL-10 could be a parameter in evaluating the biocompatibility of dialyzer.