Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome

BACKGROUND Angelman syndrome(AS)is caused by maternal chromosomal deletions,imprinting defects,paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene mutations.However the genetic basis remains unclear for several patients.AIM To investigate the involvement of UBE3A gene in AS and identifying new potential genes using exome sequencing.METHODS We established a cohort study in 50 patients referred to Farhat Hached University Hospital between 2006 and 2021,with a strong suspicion of AS and absence of chromosomal aberrations.The UBE3A gene was screened for mutation detection.Two unrelated patients issued from consanguineous families were subjected to exome analysis.RESULTS We describe seven UBE3A variants among them 3 none previously described including intronic variants c.2220+14T>C(intron14),c.2507+43T>A(Exon15)and insertion in Exon7:c.30-47_30-46.The exome sequencing revealed 22 potential genes that could be involved in AS-like syndromes that should be investigated further.CONCLUSION Screening for UBE3A mutations in AS patients has been proven to be useful to confirm the diagnosis.Our exome findings could rise to new potential alternative target genes for genetic counseling.

3M syndrome patient with a novel mutation:A case rep

BACKGROUND A rare autosomal recessive genetic disorder,3M syndrome,is characterized by severe intrauterine and postnatal growth retardation.Children with 3M syndrome typically exhibit short stature,facial deformities,long tubular bones,and high vertebral bodies but generally lack mental abnormalities or other organ damage.Pathogenic genes associated with 3M syndrome include CUL7,OBSL1 and CCDC8.The clinical and molecular characteristics of patient with 3M syn-drome are unique and serve as important diagnostic indicators.CASE SUMMARY In this case,the patient displayed square shoulders,scoliosis,long slender tubular bones,and normal neurological development.Notably,the patient did not exhibit the typical dysmorphic facial features,relative macrocephaly,or growth retardation commonly observed in individuals with 3M syndrome.Whole exon sequencing revealed a novel heterozygous c.56681+1G>C(Splice-3)variant and a previously reported nonsense heterozygous c.3341G>A(p.Trp1114Ter)variant of OBSL1.Therefore,it is important to note that the clinical features of 3M syndrome may not always be observable,and genetic confirmation is often required.Additionally,the identification of the c.5683+1G>C variant in OBSL1 is notewor-thy because it has not been previously reported in public databases.CONCLUSION Our study identified a new variant(c.5683+1G>C)of OBSL1 that contributes to expanding the molecular profile of 3M syndrome.

Low T3 vs low T3T4 euthyroid sick syndrome in septic shock patients:A prospective observational cohort study

BACKGROUND Both phases of euthyroid sick syndrome(ESS)are associated with worse prognosis in septic shock patients.Although there are still no indications for supplementation therapy,there is no evidence that both phases(initial and prolonged)are adaptive or that only prolonged is maladaptive and requires supplementation.AIM To analyze clinical,hemodynamic and laboratory differences in two groups of septic shock patients with ESS.METHODS A total of 47 septic shock patients with ESS were divided according to values of their thyroid hormones into low T3 and low T3T4 groups.The analysis included demographic data,mortality scores,intensive care unit stay,mechanical ventilation length and 28-day survival and laboratory with hemodynamics.RESULTS The Simplified Acute Physiology Score II score(P=0.029),dobutamine(P=0.003)and epinephrine requirement(P=0.000)and the incidence of renal failure and multiple organ failure(MOF)(P=0.000)were significantly higher for the low T3T4.Hypoalbuminemia(P=0.047),neutrophilia(P=0.038),lymphopenia(P=0.013)and lactatemia(P=0.013)were more pronounced on T2 for the low T3T4 group compared to the low T3 group.Diastolic blood pressure at T0(P=0.017)and T1(P=0.007),as well as mean arterial pressure at T0(P=0.037)and T2(P=0.033)was higher for the low T3 group.CONCLUSION The low T3T4 population is associated with higher frequency of renal insufficiency and MOF,with worse laboratory and hemodynamic parameters.These findings suggest potentially maladaptive changes in the chronic phase of septic shock.

Metabolic syndrome attenuates ulcerative colitis: Correlation with interleukin-10 and galectin-3 expression

BACKGROUND Ulcerative colitis(UC)is a chronic disease characterized by inflammation of intestinal epithelium,primarily of the colon.An increasing prevalence of metabolic syndrome(MetS)in patients with UC has been documented recently.Still,there is no evidence that MetS alters the course of the UC.AIM To test the influence of the MetS on the severity of UC and the local and systemic immune status.METHODS Eighty nine patients with de novo histologically confirmed UC were divided in two groups,according to ATP III criteria:Group without MetS(no MetS)and group with MetS.RESULTS Clinically and histologically milder disease with higher serum level of immunosuppressive cytokine interleukin-10(IL-10)and fecal content of Galectin-3(Gal-3)was observed in subjects with UC and MetS,compared to subjects suffering from UC only.This was accompanied with predomination of IL-10 over pro-inflammatory cytokines tumor necrosis factorα(TNF-α),interleukin-6(IL-6),and interleukin-17(IL-17)in the sera as well as Gal-3 over TNF-αand IL-17 in feces of UC patients with MetS.Further,the patients with both conditions(UC and MetS)had higher percentage of IL-10 producing and Gal-3 expressing innate and acquired immune cells in lamina propria.CONCLUSION Local dominance of Gal-3 and IL-10 over pro-inflammatory mediators in patients with MetS may present a mechanism for limiting the inflammatory process and subsequent tissue damage in UC.

A randomized controlled trial of omega-3 fatty acids in dry eye syndrome

AIM:To evaluate the role of dietary supplementation of omega-3 fatty acids in dry eye syndrome.METHODS:A prospective,interventional,placebo controlled,double blind randomized trial was done at two referral eye centers.Two hundred and sixty-four eyes of patients with dry eye were randomized to receive one capsule(500mg)two times a day containing 325mg EPA and 175mg DHA for 3 months(omega-3 group).The omega-3 group was compared to a group of patients(n=254)who received a placebo(placebo group).There were 4 patient visits(at baseline,1 month,2 months and3 months).On each visit,recording of corrected distance visual acuity(CDVA),slit lamp examination and questionnaire based symptom evaluation and scoring was done.A symptomatic score of 0-6 was mild,6.1-12moderate and 12.1-18 severe dry eye.Response to intervention was monitored by routine tear function tests like Schirmer I test,tear film break-up time(TBUT),Rose Bengal staining and most notably,conjunctival impression cytology.RESULTS:Sixty-five percent of patients in the omega-3group and 33%of patients in placebo group had significant improvement in symptoms at 3 months(P=0.005).There was a significant change in both Schirmer’s test value and TBUT values in the omega-3group(P【0.001),both comparisons.However,there was a larger drift in TBUT values in omega-3 than the placebo group,in comparison to Schirmer’s test values.The mean TBUT score was 2.54±2.34 in the omega-3group and 0.13±0.16 in placebo group,respectively.The mean reduction in symptom score in omega-3 group was 2.02±0.96 as compared to 0.48±0.22 in placebogroup(P【0.001).Despite a slight increase mean score,the Schirmer scores did not correlate well with symptomatic improvement.CONCLUSION:Omega-3 fatty acids have a definite role for dry eye syndrome.The benefit seems to be more marked in conditions such as blepharitis and meibomian gland disease.The role of omega fatty acids in tear production and secretion needs further evaluation.

Serum matrix metalloproteinase 3 in detecting remitting seronegative symmetrical synovitis with pitting edema syndrome: A case report

We report a case of remitting seronegative symmetrical synovitis with pitting edema(RS3 PE) syndrome in a 71-year-old woman. She referred to our hospital with finger stiffness, edema of both hands and feet, pain of bilateral shoulder, wrist, metacarpophalangeal, proximal interphalangeal, and ankle joints. Rheumatoid factor was negative, human leukocyte antigen-B7 antigen was positive. Moreover, matrix metalloproteinase 3(MMP-3) was high. She was diagnosed with RS3 PE syndrome, and treatment with prednisolone(15 mg/d) was started. One week after prednisolone treatment initiation, CRP decreased to negative, and joint pain was almost completely resolved. However, hand stiffness persisted, and MMP-3 level was still high. Thus, prednisolone dose was increased to 20 mg/d, and the stiffness resolved. Twenty days after treatment initiation, MMP-3 was normalized. MMP-3 was more indicative of RS3 PE syndrome symptoms than CRP. Thus, MMP-3 seems to be more sensitive to RS3 PE syndrome symptoms.

Evaluation of Airway Obstruction at Soft Palate Level in Male Patients with Obstructive Sleep Apnea/Hypopnea Syndrome:Dynamic 3-Dimensional CT Imaging of Upper Airway

This study examined the dynamic characteristics of upper airway collapse at soft palate level in patients with obstructive sleep apnea/hypopnea syndrome（OSAHS） by using dynamic 3-Dimensional（3-D） CT imaging.A total of 41 male patients who presented with 2 of the following symptoms,i.e.,daytime sleepiness and fatigue,frequent snoring,and apnea with witness,were diagnosed as having OSAHS.They underwent full-night polysomnography and then dynamic 3-D CT imaging of the upper airway during quiet breathing and in Muller＇s maneuver.The soft palate length（SPL）,the minimal cross-sectional area of the retropalatal region（mXSA-RP）,and the vertical distance from the hard palate to the upper posterior part of the hyoid（hhL） were compared between the two breathing states.These parameters,together with hard palate length（HPL）,were also compared between mild/moderate and severe OSAHS groups.Association of these parameters with the severity of OSAHS [as reflected by apnea hypopnea index（AHI） and the lowest saturation of blood oxygen（LSaO2）] was examined.The results showed that 31 patients had severe OSAHS,and 10 mild/moderate OSAHS.All the patients had airway obstruction at soft palate level.mXSA-RP was significantly decreased and SPL remarkably increased during Muller＇s maneuver as compared with the quiet breathing state.There were no significant differences in these airway parameters（except the position of the hyoid bone） between severe and mild/moderate OSAHS groups.And no significant correlation between these airway parameters and the severity of OSAHS was found.The position of hyoid was lower in the severe OSAHS group than in the mild/moderate OSAHS group.The patients in group with body mass index（BMI）≥26 had higher collapse ratio of mXSA-RP,greater neck circumference and smaller mXSA-RP in the Muller＇s maneuver than those in group with BMI26（P0.05 for all）.It was concluded that dynamic 3-D CT imaging could dynamically show the upper airway changes at soft palate level in OSAHS patients.All the OSAHS patients had airway obstruction of various degrees at soft palate level.But no correlation was observed between the airway change at soft palate level and the severity of OSAHS.The patients in group with BMI≥26 were more likely to develop airway obstruction at soft palate level than those with BMI26.

Chronic bacterial prostatitis and irritable bowel syndrome： effectiveness of treatment with rifaximin followed by the probiotic VSL#3

This study was undertaken to evaluate the influence of treatment with rifaximin followed by the probiotic VSL#3 versus no treatment on the progression of chronic prostatitis toward chronic microbial prostate-vesiculitis （PV） or prostate-vesiculo-epididymitis （PVE）. A total of 106 selected infertile male patients with bacteriologically cured chronic bacterial prostatitis （CBP） and irritable bowel syndrome （IBS） were randomly prescribed rifaximin （200 mg, 2 tablets bid, for 7 days monthly for 12 months） and probiotic containing multiple strains VSL#3 （450 × 10^9 CFU per day） or no treatment. Ninety-five of them （89.6%） complied with the therapeutic plan and were included in this study. Group A = ＂6Tx/6-＂： treatment for the initial 6 and no treatment for the following 6 months （n = 26）; Group B = ＂12Tx＂： 12 months of treatment （n = 22）; Group C = ＂6-/6Tx＂： no treatment for the initial 6 months and treatment in the last 6 months （n = 23）; Group D = ＂12-＂： no treatment （n = 24）. The patients of Groups A = ＂6Tx/6-＂ and B = ＂12Tx＂ had the highest frequency of chronic prostatitis （88.5% and 86.4%, respectively）. In contrast, group ＂12-＂： patients had the lowest frequency of prostatitis （33.4%）. The progression of prostatitis into PV in groups ＂6Tx/6-＂ （15.5%） and ＂6-/6Tx＂ （13.6%） was lower than that found in the patients of group ＂12-＂ （45.8%）. Finally, no patient of groups ＂6Tx/6-＂ and ＂6-/6Tx＂ had PVE, whereas it was diagnosed in 20.8% of group ＂12-＂ patients. Long-term treatment with rifaximin and the probiotic VSL#3 is effective in lowering the progression of prostatitis into more complicated forms of male accessory gland infections in infertile patients with bacteriologically cured CBP plus IBS.

Lithium chloride ameliorates learning and memory ability and inhibits glycogen synthase kinase-3 beta activity in a mouse model of fragile X syndrome

In the present study,Fmr1 knockout mice （KO mice） were used as the model for fragile X syndrome.The results of step-through and step-down tests demonstrated that Fmr1 KO mice had shorter latencies and more error counts,indicating a learning and memory disorder.After treatment with 30,60,90,120,or 200 mg/kg lithium chloride,the learning and memory abilities of the Fmr1 KO mice were significantly ameliorated,in particular,the 200 mg/kg lithium chloride treatment had the most significant effect.Western blot analysis showed that lithium chloride significantly enhanced the expression of phosphorylated glycogen synthase kinase 3 beta,an inactive form of glycogen synthase kinase 3 beta,in the cerebral cortex and hippocampus of the Fmr1 KO mice.These results indicated that lithium chloride improved learning and memory in the Fmr1 KO mice,possibly by inhibiting glycogen synthase kinase 3 beta activity.

Low T3 syndrome and long-term mortality in chronic hemodialysis patients

AIM： To investigate the predictive value of low freeT3 for long-term mortality in chronic hemodialysis （HD） patients and explore a possible causative role of chronic infammation.METHODS： One hundred fourteen HD patients （84 males） consecutively entered the study and were assessed for thyroid function and two established markers of inflammation, high sensitivity C-reactive protein （hsCRP） and interleukin-6 （IL-6）. Monthly blood samples were obtained from all patients for three consecutive months during the observation period for evaluation of thyroid function and measurement of infammatory markers. The patients were then divided in two groups based on the cut-off value of 1.8 pg/mL for mean plasma freeT3, and were prospectively studied for a mean of 50.3 ± 30.8 mo regarding cumulative survival. The prognostic power of low serum fT3 levels for mortality was assessed using the Kaplan-Meier method and univariate and multivariate regression analysis.RESULTS： Kaplan-Meier survival curve showed a negative predictive power for low freeT3. In Cox regression analysis low freeT3 remained a significant predictor of mortality after adjustment for age, diabetes mellitus, hypertension, hsCRP, serum creatinine and albumin. Regarding the possible association with inflammation, freeT3 was correlated with hsCRP, but not IL-6, and only at the frst month of the study.CONCLUSION： In chronic hemodialysis patients, low plasma freeT3 is a significant predictor of all-cause mortality. Further studies are required to identify the underlying mechanisms of this association.

No association of G-protein beta polypeptide 3 polymorphism with irritable bowel syndrome: Evidence from a meta-analysis

AIM: To clarify the associations between G-protein beta polypeptide 3 (GNB3) C825T polymorphism and risk of the irritable bowel syndrome (IBS) by a meta-analysis.

Study on the expression of Runx3 and TGF-β_1 protein in the colonic tissue from rats with irritable bowel syndrome

Objective:To investigate the expression of Runx3 and TGF-β_1 protein in the colon from rats with irritable bowel syndrome(IBS).Methods:Rat model for IBS was established by intracolonic instillation with acetic acid and restraint stress methods,which was confirmed by determinating the visceral sensitivity of the animals,including abdominal withdrawal reflex (AWR) score and the electronic behavior of the abdomen wall.The rats were randomly assigned into three groups:IBS,group(restraint stress,n=25);IBS_2 group(both instillation with acetic acid and restraint stress,n=25) and Control group(n=16).The colonic tissue samples were collected for histological study and the expression of Runx3 and TGF-β_1 proteins were detected by immunohistochemistry.Meanwhile,the relationship of these two proteins was calculated. Results:Visceral hypersensitivity(AWR and abdominal electrical activity) was significantly enhanced in IBS,and IBS_2 groups than other groups.The colon tissue in all groups did not show any signs of inflammation.Furthermore,the expression of Runx3 and TGF-β_1 protein in the colon from all groups show no significant difference(P>0.05),with no remarkable relevancy between each other(P>0.05).Conclusions:The rat model for IBS was successfully established. We did not find any significant changes in the expression of Runx3 and TGF-β_1 protein in the colon tissue from IBS rats,suggesting that the quantitative changes may be not the way by which Runx3 and TGF-β_1 protein play their roles in IBS.The accurate roles of Runx3 and TGF-β_1 proteins in the pathogenesis of IBS remains to be further studied.

Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome:A multicenter retrospective study

BACKGROUND Single-nucleotide polymorphisms(SNPs)of the serotonin type 3 receptor subunit(HTR3)genes have been associated with psychosomatic symptoms,but it is not clear whether these associations exist in irritable bowel syndrome(IBS).AIM To assess the association of HTR3 polymorphisms with depressive,anxiety,and somatization symptoms in individuals with IBS.METHODS In this retrospective study,623 participants with IBS were recruited from five specialty centers in Germany,Sweden,the United States,the United Kingdom,and Ireland.Depressive,anxiety,and somatization symptoms and sociodemographic characteristics were collected.Four functional SNPs—HTR3A c.-42C>T,HTR3B c.386A>C,HTR3C c.489C>A,and HTR3E c.*76G>A—were genotyped and analyzed using the dominant and recessive models.We also performed separate analyses for sex and IBS subtypes.SNP scores were calculated as the number of minor alleles of the SNPs above.The impact of HTR3C c.489C>A was tested by radioligand-binding and calcium influx assays.RESULTS Depressive and anxiety symptoms significantly worsened with increasing numbers of minor HTR3C c.489C>A alleles in the dominant model(F_(depressive)=7.475,P_(depressive)=0.006;F_(anxiety)=6.535,P_(anxiety)=0.011).A higher SNP score(range 0-6)was linked to a worsened depressive symptoms score(F=7.710,P-linear trend=0.006)in IBS.The potential relevance of the HTR3C SNP was corroborated,showing changes in the expression level of 5-HT3AC variant receptors.CONCLUSION We have provided the first evidence that HTR3C c.489C>A is involved in depressive and anxiety symptoms in individuals with IBS.The SNP score indicated that an increasing number of minor alleles is linked to the worsening of depressive symptoms in IBS.

Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene:A case report

BACKGROUND Gitelman syndrome(GS)is an unusual,autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis,hypomagnesemia and hypocalciuria.It is caused by mutations in the solute carrier family 12 member 3(SLC12A3)gene resulting in disordered function of the thiazidesensitive NaCl co-transporter.To date,many types of mutations in the SLC12A3 gene have been discovered that trigger different clinical manifestations.Therefore,gene sequencing should be considered before determining the course of treatment for GS patients.CASE SUMMARY A 55-year-old man was admitted to our department due to hand numbness and fatigue.Laboratory tests after admission showed hypokalemia,metabolic alkalosis and renal failure,all of which suggested a diagnosis of GS.Genome sequencing of DNA extracted from the patient’s peripheral blood showed a rare homozygous mutation in the SLC12A3 gene(NM_000339.2:chr16:56903671,Exon4,c.536T>A,p.Val179Asp).This study reports a rare homozygous mutation in SLC12A3 gene of a Chinese patient with GS.CONCLUSION Genetic studies may improve the diagnostic accuracy of Gitelman syndrome and improve genetic counseling for individuals and their families with these types of genetic disorders.

Colonic expression of Runx3 protein and TGF-β_1 and their correlation in patients with irritable bowel syndrome

Objective:To investigate the role of Runx3 protein and TGF-β_1 in the pathogenesis of irritable bowel syndrome(IBS),as well as the correlation of these two proteins.Methods:Colonic tissue was collected from patients with IBS and normal persons.The colonic expression of Runx3 protein and TGF-β_1 was detected with immunohislochemistry method.Semi-quantitative analysis was used to evaluate the staining degree of these two proteins.Results:Compared with their counterparts,patients with IBS did not show any changes in the colonic expression of Runx3 protein and TGF-β_1(P>0.05).Interestingly,there was a significant correlation between Runx3 protein and TGF-β_1 in patients with IBS(P<0.05).Conclusions:The role of Runx3 protein and TGF-β_1 in the pathogenesis of IBS remains to be further studied.

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

BACKGROUND To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype. CASE SUMMARY The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing for candidate pathogenic genes in the proband was completed by the Huada Gene Technology Co. Ltd (Shenzhen, China). Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of the SLC12A3 gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused the occurrence of disease. CONCLUSION This is the first report of a new pathogenic mutation in SLC12A3. Further functional studies are particularly necessary to explore potential molecular mechanisms.

Runx3 might participate in regulating dendriti cell function in patients with irritable bowel syndrome

Objective:To evaluate the expression levels and correlations among the expressions of transforming growth factor-β1（TGF-β1）,Kunx3 and CD83 in colonic mucosal specimens from IBS patients.Methods:A total of 40 patients were selected,who were confirmed as IBS by Rome III standard and 40 healthy volunteers served as control.Colonic mucosal specimens of each subject were collected from colon sigmoideum with biopsy forceps.Runx3,TGF-β1?and CD83(the marker for immunecompetent mature dendritic cells（DCs）mRNA in the sigmoid colon tissue were measured by real-time fluorescence quantitative PCR.Results:Compared with the control group,CD83 mRNA expressions were higher in patients with IBS than in healthy controls（P【0.05）and were associated with runt-related transcription factor 3（Runx3）mRNA levels（r=-0.361,P【0.05）.Meanwhile,Runx3 mRNA levels were associated with TGF-β1,mRNA expressions in irritable bowel syndrome（IBS）patients（r=0.402,P【0.05）.However,there was no correlation between the mRNA expressions of TGF-β1 and CD83（P】0.05）.Conclusions:The increase of abnormal dendritic cells might influence the occurrence and development of IBS.TGF-β1 signal pathway might not be involved in Runx 3-regulated maturation of dendritic cells in IBS.

Central Pain Syndrome: Etiological Perspectives from the 3D Default Space Model of Consciousness

In this article, the mechanisms of central pain syndrome (CPS) are examined for the purpose of gaining insight into how a unified conscious experience arises from brain and body interaction. We provide a novel etiology for CPS via implementation of the previously proposed 3D Default Space (3DDS) consciousness model in which consciousness and body schema arise when afferent information is processed by corticothalamic feedback loops and integrated via the thalamus. Further, we propose the mechanisms by which CPS represents deficits in dynamic interactions between afferent and efferent signaling. Modern hypotheses of CPS suggest roles for maladaptive neuroplasticity, a deafferentated somatosensory cortex and/or thalamus, and reorganization along the sensory pathways of the spinothalamic tract in the pathogenesis of the painful sensations. We propose that CPS arises when painful sensory signals originating along the maladapted and/or dysfunctional spinothalamic tract become accentuated by the dominant top down mechanisms of the brain.

Research on the relationship between traditional Chinese medicine's syndrome and serum level of IGF-1 and IGFBP-3 in patients with acute cerebral infarction

Objective To study the relationship between traditional Chinese medicine (TCM) syndrome and serum level of IGF 1 and IGFBP 3 in patients with acute cerebral infarction (ACI).Methods 75 patients of ACI were divided into two groups by TCM`s syndrome differentiation: apolexy involving the channels (AIC) and apolexy involving the viscera (AIV).Serum level of IGF 1 and IGFBP 3 was detected by ELISA di antibody clipping technique (DACT) and was compared with that of 30 normal controls.Results Serum level of IGF 1 and IGFBP 3 in AIC group and AIV group were significantly different from control groups;and differences between AIC group and AIV group were statistically significant.Serum level of IGF 1 and IGFBP 3 in all syndromes of AIC group and AIV group were remarkably lower than control group.Among them,syndrome of Yin deficiency of liver and kidney and sthenia liver yang and syndrome of blood stasis due to Qi deficiency had lower serum level of IGF 1 and IGFBP 3 than syndrome of empty and obstruction of channel.So did collapse syndrome and syndrome of mental disorder due to phlegm fire to syndrome of wind fire evil lucid orifices and block Yin syndrome.Conclusion There are to some extent correlation with TCM’s Syndrome and serum level of IGF 1 and IGFBP 3 in patients with ACI. Serum level of IGF 1 and IGFBP 3 might be microcosmic referent markers of the damage of Qi and Yin by TCM`s syndrome differentiation.

SNAPC3 gene rs12093 polymorphism is significantly associated with ischemic stroke wind syndrome

Objective:To investigate whether The small nuclear RNA activating complex polypeptide 3(SNAPC3)gene rs12093 polymorphism is associated with ischemic stroke(IS)and Traditional Chinese Medicine(TCM)syndromes of IS.Methods:This study enrolled 774 patients with ischemic stroke(IS)and 793 normal controls.Massarray technology was used for genotyping.And genetic association analysis was estimated by PLINK program.Results:①SNAPC3 gene rs12093 polymorphism was significantly associated with the risk of ischemic stroke wind syndrome of IS[OR=0.76,95%CI(0.58-0.99),P=0.047 in dominant model)].②After adjusting age and gender,SNAPC3 gene rs12093 polymorphism and the score of ischemic stroke wind syndrome(Padj=0.037 in additive model;Padj=0.009 in recessive model),the correlation is statistically significant.③After adjusting age and gender,platelet(PLT)(Padj=0.024 in addiction model;Padj=0.039 in dominant model)and thrombin time(TT)(Padj=0.042 in dominant model)were significantly associated with rs12093 polymorphism in patients with ischemic stroke wind syndrome.Conclusion:SNAPC3 gene rs12093 polymorphism may affect the occurrence of ischemic stroke wind syndrome.