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 gene...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.展开更多
Objective: To study the function in cellular immunity of patients with hyper-IgE syndrome (HIE). Methods: T-lymphocyte subtypes of the peripheral blood and cutaneous delayed-type hypersensitivity (DTH) to two recall a...Objective: To study the function in cellular immunity of patients with hyper-IgE syndrome (HIE). Methods: T-lymphocyte subtypes of the peripheral blood and cutaneous delayed-type hypersensitivity (DTH) to two recall antigens, tetanus toxoid (TT) and purified protein derivative(PPD), were measured in 5 patients with HIE and 15 healthy controls, respectively. Results: The CD4 + cell counts in HIE group were significantly lower than those in the control group (P<0.01). In contrast, CD8 + cells were significantly higher in HIE group than those in the controls. The induration sizes of DTH to two recall antigens were smaller in HIE group than those in controls (P<0.01). Conclusion: There is an immunologic dysfunction of T lymphocytes in the patients with HIE and T cells play an important role in the pathogenesis.展开更多
Objective: To study the function of ce ll ular immunity in patients with hyper-IgE syndrome (HIE). Methods: T-lymphocyte subtypes of the peripheral blood and cutaneous delayed-typ e hypersensitivity (DTH) response ...Objective: To study the function of ce ll ular immunity in patients with hyper-IgE syndrome (HIE). Methods: T-lymphocyte subtypes of the peripheral blood and cutaneous delayed-typ e hypersensitivity (DTH) response to two recall antigens, tetanus toxoid (TT) an d purified protein derivative(PPD), were measured in five patients with HIE and 15 healthy controls, respectively. Results: The CD4+ cell cou nts in HIE group were significantly lower than those in control group (P<0. 01). In contrast, CD8+ cells were significantly higher than those in the contro l (P<0.01). The induration sizes of DTH response to two recall antigens wer e smaller in HIE group than those in the control group (P<0.01). Co nclusion: There was an immunologic dysfunction of T lymphocytes in the p atients with HIE.展开更多
This review paper focuses on the genetic contribution, in particular, the association of Apolipoprotein E gene polymorphism to lipid abnormality and subsequent acute coronary syndrome in Han Chinese of China. Many res...This review paper focuses on the genetic contribution, in particular, the association of Apolipoprotein E gene polymorphism to lipid abnormality and subsequent acute coronary syndrome in Han Chinese of China. Many researches have been published pertaining the influence of ApoE gene polymorphism on coronary artery disease, dyslipidemia and the response of statin in Han Chinese. Most of the studies in Han Chinese like other populations demonstrated that ApoE 4 allele genetically predisposes coronary artery disease, acute coronary syndrome, severity of occlusion of coronary artery and higher incidence of major adverse cardiovascular events (In Han Chinese, ApoE allele carriers demonstrated 85% increase in major adverse cardiovascular events (MACE) in six months follow up). In addition, ApoE4 allele carrier also showed both increased in LDL level and decrease response to statin therapy in dyslipidemic Han Chinese. On the other hand, ApoE2 carrier is scavenger of cholesterol and triglyceride from the blood;?thus it is cardiovascular-protective. Despite positive relationship between ApoE gene polymorphism and cardiovascular pathologies, prognostic outcome and resistance to intervention, this area of research still requires?extensive investigation in Han Chinese. Because, several other studies revealed either negative effect or showed no effect by ApoE gene polymorphism on cardiovascular disease. Some of the causes of such debatable results could be explained by factors such as diminutive frequency allele and expression of ApoE gene in coronary heart disease. This part of the research yet requires extensive study with bulkier sample size and retrospective in nature, in order to ascertain the influence of ApoE genotype on lipid, anti-hyperlipidemic agent and coronary heart disease. Such studies could assist us to confirm whether to test healthier subjects to predict genetic risk of coronary heart disease in Han Chinese population. The aim of this review paper is to critically analyze the effect of ApoE gene on the occurrence of coronary heart disease in Han Chinese.展开更多
Guillain-Barrésyndrome(GBS)is often triggered by a preceding bacterial or viral infection.Occasionally,it has been observed in association with acute hepatitis A,B and C,and three cases have been previously descr...Guillain-Barrésyndrome(GBS)is often triggered by a preceding bacterial or viral infection.Occasionally,it has been observed in association with acute hepatitis A,B and C,and three cases have been previously described in India in which GBS was associated with acute hepatitis E.A molecular mimicry mechanism is supposed to be involved in the pathogenesis of GBS triggered by infectious agents,although the nature of the shared epitopes has not been characterized in most instances,including that in the case of hepatotropic viruses.We report a case of GBS following acute hepatitis E in a European individual.The presence of antiganglioside GM2 antibodies in this patient suggested molecular mimicry involving ganglioside GM2 in the pathogenesis of GBS associated with hepatitis E.展开更多
[Objectives] To observe the effect of soy isoflavones on the perimenopausal syndrome model of female rats,and to find its mechanism,in order to provide experimental evidence for the clinical treatment of menopausal sy...[Objectives] To observe the effect of soy isoflavones on the perimenopausal syndrome model of female rats,and to find its mechanism,in order to provide experimental evidence for the clinical treatment of menopausal syndrome. [Methods]50 female SD rats were randomly divided into five groups,with 10 rats in each group,respectively,for the normal control group,sham operation group,model group,diethylstilbestrol group,soy isoflavone treated group,except the normal control group and sham operation group,the other groups were ovariectomized rats,the formation model of perimenopausal rats treated with normal saline,diethylstilbestrol,soy isoflavone by gavage,normal control group and sham operation group were given the same dose of normal saline and soy isoflavone by gavage. After 6 weeks of continuous treatment,abdominal aorta was taken blood,the serum was isolated,and radioimmunoassay method to measure E_2( Eestradiol),P( Progesterone),T( Testosterone). And removal of the pituitary gland,uterine and adrenal prepared pathological section,experimental effect was observed by light microscopy,using immunohistochemical method to observe the brain pituitary FSH( Follicle-Stimulating Hormone) and LH( Luteinizing Hormone) levels. [Results] Radiation immune analysis results showed that soy isoflavone could significantly improve serum E_2 level in ovariectomized rats,compared with the model group,the statistical analysis showed significant difference( P < 0. 05),but the serum P and T level had little effect. The pathological results showed that( i) uterus: the uterine wall and endometrial thickness of soy isoflavone group was between that of model group and sham operation group,the surface epithelium was columnar,glands increased;( ii) pituitary gland: soy isoflavone ovariectomized group cells were between model group and normal group;( iii) adrenal gland: soy isoflavone group adrenal tissue did not change significantly. Immunohistochemical results showed that soy isoflavone group pituitary tissues of FSH and LH cells compared with the model group decreased significantly. [Conclusions] The soy isoflavones could make the uterus wall and endometria of perimenopausal syndrome animal model thicken,improve the serum level of E_2 in ovariectomized rats,and decrease the level of FSH and LH,but had little effect on the adrenal tissues,level of T and P.展开更多
Objective:To determine the antioxidant status of females with polycystic ovarian syndrome.Methods:Blood samples of 85 females(45 newly diagnosed polycystic ovarian syndrome patients and 40 apparently healthy subjects)...Objective:To determine the antioxidant status of females with polycystic ovarian syndrome.Methods:Blood samples of 85 females(45 newly diagnosed polycystic ovarian syndrome patients and 40 apparently healthy subjects)between 25 and 45 years of age were obtained from Ekiti State University Teaching Hospital,Ado Ekiti,Ekiti State,Nigeria.Spectrophotometry was used to evaluate the plasma concentrations of malondialdehyde,vitamin A,C and E,reduced glutathione and activities of glutathione peroxidase,catalase and superoxide dismutase.Results:The concentrations of malondialdehyde and glutathione peroxidase activity significantly increased(P<0.05)in patients with polycystic ovarian syndrome compared with the healthy controls,while concentrations of reduced glutathione,vitamins A,C,E and activities of catalase and superoxide dismutase of patients with polycystic ovarian syndrome showed significant decrease(P<0.05)compared to the healthy controls.This study showed that oxidative stress may assume a role in the pathogenesis of polycystic ovarian syndrome.There were significant negative correlations between malondialdehyde and superoxide dismutase,catalase(P<0.01)and vitamin A(P<0.05),while there was a significant positive correlation(P<0.01)between malondialdehyde and glutathione peroxidase.In addition,vitamins A(P<0.05),C(P<0.01)and E(P<0.01)showed significant positive correlations with catalase antioxidant enzyme.However,vitamins C and E showed significant positive correlation(P<0.05)among each other.Conclusions:The involvement of antioxidants in the management of polycystic ovarian syndrome may be helpful as secondary therapy to prevent oxidative damage and may be used as a potential approach to overcome metabolic as well as reproductive disorders associated with infertility in polycystic ovarian syndrome.展开更多
Backgrounds: Down syndrome (DS) is the most common chromosomal abnormality. The most important factor in DS is increased maternal age so after the age of 35, the risk of Down syndrome in pregnancy increases. Down synd...Backgrounds: Down syndrome (DS) is the most common chromosomal abnormality. The most important factor in DS is increased maternal age so after the age of 35, the risk of Down syndrome in pregnancy increases. Down syndrome can be diagnosed during pregnancy by prenatal screening. Nondisjunction in cell divisions is the main cause of the DS. Apo lipoprotein E is a 317 amino acid glycoprotein that plays an essential role in metabolism and cholesterol transport. Alzheimer’s disease (AD) is one of the symptoms of adults with DS. The apoE allele e4 has been identified as a risk factor for AD and also, played a main role in nondisjunction. An increased risk of AD in mothers of adults with DS has been reported. We hypothesized that young mothers of DS children (Methods: In this case-control study, 33 DS children and their parents were compared in case of age with 90 families without any history of DS. Genotyping was performed by ARMS-PCR technique. Statistical analysis was performed by SPSS v.21 software. Results: It indicated that there is a significant difference in allele distribution between case and control groups. The C allele for 112 codon of APOE gene and the C allele for 158 codon of APOE gene may associate with nondisjunction. In 112 codon of APOE gene, it seems having T allele reduces the risk of nondisjunction and in contrast C allele may be a risk factor in happening of nondisjunction. (p-value = 0.000006, OR = 2.66, 95% CI = 1.74 - 4.06). In 158 codon of APOE gene, it seems having T allele reduces the risk of nondisjunction and in contrast C allele may be a risk factor in happening of nondisjunction. (p-value = 0.0000, OR = 3.89, 95% CI = 2.38 - 6.34). E4 allele frequency in mothers of DS is about 14% more than those in control group. According to results of this study the C allele in 158 codon of APOE gene and the C allele in 112 codon of APOE gene could be considered as susceptibility genetic factors for nondisjunction in Northeast of Iran.展开更多
Introduction: Juvenile idiopathic arthritis (JIA) represents a heterogeneous group of childhood chronic arthritic conditions. The pathogenesis of JIA remains incompletely understood. This disease can lead to a signifi...Introduction: Juvenile idiopathic arthritis (JIA) represents a heterogeneous group of childhood chronic arthritic conditions. The pathogenesis of JIA remains incompletely understood. This disease can lead to a significant morbidity including joint deformity, growth impairment and a persistence of active arthritis into adulthood. The past two decades have witnessed significant advances in treatment and improved outcomes for affected children. With the current use of biologics, more target-specific, better tolerated, safer and more effective treatments have become possible. However, continuing, comprehensive follow-up is needed to characterize the long-term effects of such treatments. Hyperimmunoglobulin E syndrome (hyper-IgE, or Job’s syndrome) is a rare immune deficiency characterized by high IgE levels, atopic chronic eczema, tendency towards re-current pyogenic infection, neutrophil chemotaxis disorder and varying T-cell function impairment. Case Report: The case of a 17-year-old male patient with hyper-IgE who develops the oligoarticular subtype of JIA over a period of four years is discussed. The course of JIA is unfavorable, causing severe deformity of numerous joints (left elbow, right 3rd metacarpophalangeal, left knee, right ankle) and a fungal infection scar on the left eye. Blood tests show an ESR of 89 mm/h, rheumatoid factor (RF) 8.3 IU/mL (0 - 20) and positive antinuclear antibody (ANA). To improve gait, corrective surgery is performed on the right ankle, followed by rehabilitation and physical therapy. Conclusion: Developments in the near future will be crucial for understanding JIA pathophysiology and improving treatment.展开更多
Objective:To investigate the effect of prostaglandin E1 (PGE1) (Alprostadii injection) on patients with primary nephrotic syndrome(PNS). Methods: 37 patients with PNS were recruited to study the effect of prostaglandi...Objective:To investigate the effect of prostaglandin E1 (PGE1) (Alprostadii injection) on patients with primary nephrotic syndrome(PNS). Methods: 37 patients with PNS were recruited to study the effect of prostaglandin E1 on platelet aggregation function [ PAG (5,) PAG( m ) ], serum total protein (TP) , albumin (Al),blood urea nitrogen(BUN) ,serum creatinine(Scr) ,cholesterol(CHO), triglyceride(TG), protein in 24-hour urine (Pr/24h) and platelet account (PLT). Results: TP, Al, CHO, TG, BUN, Scr, Pr/24h, PAG(5) and PAG(m) in PNS group before treatment were significantly different from those in control group(P<0.05, P<0.01) while no significant difference was found for PLT. When treated with PGE1 , TP,Al,CHO, TG, Pr/24h, ADP- induced PAG(5) ,and Adr- induced PAG(5) and PAG(m) were significantly different from those before treatment (P<0.05). Adr- induced PAG(5) and PAG(m) were significantly different. Adr- induced PAG(5) was xsitively correlated with BUN and Scr in PNS(P<0.01). Similar correlation was found between ADP-induced PAG(5) and Al ,BUN,Scr,Pr/24h(P<0.05), AD- induced PAG(m) and TP,CHO(P<0.05). Conclusions: PGE1 may be an effective drug for the treatment for hypercoagulation in patients with PNS.展开更多
目的探索胃癌、慢性胃病患者脾证分型与 cyclin E 表达的关系.方法在胃癌和慢性胃病患者中,选取具有中医脾虚表现的脾气(阳)虚、脾阴虚患者,和具有脾实表现的脾胃湿热、寒湿困脾证患者,以及按慢性浅表性胃炎、肠上皮化生、不典型增生、...目的探索胃癌、慢性胃病患者脾证分型与 cyclin E 表达的关系.方法在胃癌和慢性胃病患者中,选取具有中医脾虚表现的脾气(阳)虚、脾阴虚患者,和具有脾实表现的脾胃湿热、寒湿困脾证患者,以及按慢性浅表性胃炎、肠上皮化生、不典型增生、胃癌分组的患者,进行胃粘膜组织 cyclin E 免疫组化染色;对各证型的 cyclin E 表达进行比较,并分析 cyclin E 在常见胄粘膜病变中表达的差异.结果 cyclin E 在上述四种脾证分型的表达有显著性差异,阳性百分率分别为7.9%,27.3%,31.4%和14.3%.在慢性浅表性胄炎、肠上皮化生、不典型增生和胃癌的表达也有显著性差异,阳性率分别为7.5%,28.6%,37.9%和42.6%,后两者已较接近.结论胃癌和慢性胃病患者中,不同的中医脾证其 cyclin E 表达明显不同,在脾胃湿热和睥阴虚证型中较高,在寒湿困脾和脾气(阳)虚证型中较低.cyclin E 表达随病变由慢性浅表性胃炎、癌前病变到癌而逐渐增高,其与胃癌的发生发展密切相关.展开更多
文摘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.
文摘Objective: To study the function in cellular immunity of patients with hyper-IgE syndrome (HIE). Methods: T-lymphocyte subtypes of the peripheral blood and cutaneous delayed-type hypersensitivity (DTH) to two recall antigens, tetanus toxoid (TT) and purified protein derivative(PPD), were measured in 5 patients with HIE and 15 healthy controls, respectively. Results: The CD4 + cell counts in HIE group were significantly lower than those in the control group (P<0.01). In contrast, CD8 + cells were significantly higher in HIE group than those in the controls. The induration sizes of DTH to two recall antigens were smaller in HIE group than those in controls (P<0.01). Conclusion: There is an immunologic dysfunction of T lymphocytes in the patients with HIE and T cells play an important role in the pathogenesis.
文摘Objective: To study the function of ce ll ular immunity in patients with hyper-IgE syndrome (HIE). Methods: T-lymphocyte subtypes of the peripheral blood and cutaneous delayed-typ e hypersensitivity (DTH) response to two recall antigens, tetanus toxoid (TT) an d purified protein derivative(PPD), were measured in five patients with HIE and 15 healthy controls, respectively. Results: The CD4+ cell cou nts in HIE group were significantly lower than those in control group (P<0. 01). In contrast, CD8+ cells were significantly higher than those in the contro l (P<0.01). The induration sizes of DTH response to two recall antigens wer e smaller in HIE group than those in the control group (P<0.01). Co nclusion: There was an immunologic dysfunction of T lymphocytes in the p atients with HIE.
文摘This review paper focuses on the genetic contribution, in particular, the association of Apolipoprotein E gene polymorphism to lipid abnormality and subsequent acute coronary syndrome in Han Chinese of China. Many researches have been published pertaining the influence of ApoE gene polymorphism on coronary artery disease, dyslipidemia and the response of statin in Han Chinese. Most of the studies in Han Chinese like other populations demonstrated that ApoE 4 allele genetically predisposes coronary artery disease, acute coronary syndrome, severity of occlusion of coronary artery and higher incidence of major adverse cardiovascular events (In Han Chinese, ApoE allele carriers demonstrated 85% increase in major adverse cardiovascular events (MACE) in six months follow up). In addition, ApoE4 allele carrier also showed both increased in LDL level and decrease response to statin therapy in dyslipidemic Han Chinese. On the other hand, ApoE2 carrier is scavenger of cholesterol and triglyceride from the blood;?thus it is cardiovascular-protective. Despite positive relationship between ApoE gene polymorphism and cardiovascular pathologies, prognostic outcome and resistance to intervention, this area of research still requires?extensive investigation in Han Chinese. Because, several other studies revealed either negative effect or showed no effect by ApoE gene polymorphism on cardiovascular disease. Some of the causes of such debatable results could be explained by factors such as diminutive frequency allele and expression of ApoE gene in coronary heart disease. This part of the research yet requires extensive study with bulkier sample size and retrospective in nature, in order to ascertain the influence of ApoE genotype on lipid, anti-hyperlipidemic agent and coronary heart disease. Such studies could assist us to confirm whether to test healthier subjects to predict genetic risk of coronary heart disease in Han Chinese population. The aim of this review paper is to critically analyze the effect of ApoE gene on the occurrence of coronary heart disease in Han Chinese.
文摘Guillain-Barrésyndrome(GBS)is often triggered by a preceding bacterial or viral infection.Occasionally,it has been observed in association with acute hepatitis A,B and C,and three cases have been previously described in India in which GBS was associated with acute hepatitis E.A molecular mimicry mechanism is supposed to be involved in the pathogenesis of GBS triggered by infectious agents,although the nature of the shared epitopes has not been characterized in most instances,including that in the case of hepatotropic viruses.We report a case of GBS following acute hepatitis E in a European individual.The presence of antiganglioside GM2 antibodies in this patient suggested molecular mimicry involving ganglioside GM2 in the pathogenesis of GBS associated with hepatitis E.
基金Supported by Guangxi Graduate Education Innovation Program Foundation(YJSJG201601)Natural Science Research Project of Guangxi University of Chinese Medicine(P2005006)
文摘[Objectives] To observe the effect of soy isoflavones on the perimenopausal syndrome model of female rats,and to find its mechanism,in order to provide experimental evidence for the clinical treatment of menopausal syndrome. [Methods]50 female SD rats were randomly divided into five groups,with 10 rats in each group,respectively,for the normal control group,sham operation group,model group,diethylstilbestrol group,soy isoflavone treated group,except the normal control group and sham operation group,the other groups were ovariectomized rats,the formation model of perimenopausal rats treated with normal saline,diethylstilbestrol,soy isoflavone by gavage,normal control group and sham operation group were given the same dose of normal saline and soy isoflavone by gavage. After 6 weeks of continuous treatment,abdominal aorta was taken blood,the serum was isolated,and radioimmunoassay method to measure E_2( Eestradiol),P( Progesterone),T( Testosterone). And removal of the pituitary gland,uterine and adrenal prepared pathological section,experimental effect was observed by light microscopy,using immunohistochemical method to observe the brain pituitary FSH( Follicle-Stimulating Hormone) and LH( Luteinizing Hormone) levels. [Results] Radiation immune analysis results showed that soy isoflavone could significantly improve serum E_2 level in ovariectomized rats,compared with the model group,the statistical analysis showed significant difference( P < 0. 05),but the serum P and T level had little effect. The pathological results showed that( i) uterus: the uterine wall and endometrial thickness of soy isoflavone group was between that of model group and sham operation group,the surface epithelium was columnar,glands increased;( ii) pituitary gland: soy isoflavone ovariectomized group cells were between model group and normal group;( iii) adrenal gland: soy isoflavone group adrenal tissue did not change significantly. Immunohistochemical results showed that soy isoflavone group pituitary tissues of FSH and LH cells compared with the model group decreased significantly. [Conclusions] The soy isoflavones could make the uterus wall and endometria of perimenopausal syndrome animal model thicken,improve the serum level of E_2 in ovariectomized rats,and decrease the level of FSH and LH,but had little effect on the adrenal tissues,level of T and P.
文摘Objective:To determine the antioxidant status of females with polycystic ovarian syndrome.Methods:Blood samples of 85 females(45 newly diagnosed polycystic ovarian syndrome patients and 40 apparently healthy subjects)between 25 and 45 years of age were obtained from Ekiti State University Teaching Hospital,Ado Ekiti,Ekiti State,Nigeria.Spectrophotometry was used to evaluate the plasma concentrations of malondialdehyde,vitamin A,C and E,reduced glutathione and activities of glutathione peroxidase,catalase and superoxide dismutase.Results:The concentrations of malondialdehyde and glutathione peroxidase activity significantly increased(P<0.05)in patients with polycystic ovarian syndrome compared with the healthy controls,while concentrations of reduced glutathione,vitamins A,C,E and activities of catalase and superoxide dismutase of patients with polycystic ovarian syndrome showed significant decrease(P<0.05)compared to the healthy controls.This study showed that oxidative stress may assume a role in the pathogenesis of polycystic ovarian syndrome.There were significant negative correlations between malondialdehyde and superoxide dismutase,catalase(P<0.01)and vitamin A(P<0.05),while there was a significant positive correlation(P<0.01)between malondialdehyde and glutathione peroxidase.In addition,vitamins A(P<0.05),C(P<0.01)and E(P<0.01)showed significant positive correlations with catalase antioxidant enzyme.However,vitamins C and E showed significant positive correlation(P<0.05)among each other.Conclusions:The involvement of antioxidants in the management of polycystic ovarian syndrome may be helpful as secondary therapy to prevent oxidative damage and may be used as a potential approach to overcome metabolic as well as reproductive disorders associated with infertility in polycystic ovarian syndrome.
文摘Backgrounds: Down syndrome (DS) is the most common chromosomal abnormality. The most important factor in DS is increased maternal age so after the age of 35, the risk of Down syndrome in pregnancy increases. Down syndrome can be diagnosed during pregnancy by prenatal screening. Nondisjunction in cell divisions is the main cause of the DS. Apo lipoprotein E is a 317 amino acid glycoprotein that plays an essential role in metabolism and cholesterol transport. Alzheimer’s disease (AD) is one of the symptoms of adults with DS. The apoE allele e4 has been identified as a risk factor for AD and also, played a main role in nondisjunction. An increased risk of AD in mothers of adults with DS has been reported. We hypothesized that young mothers of DS children (Methods: In this case-control study, 33 DS children and their parents were compared in case of age with 90 families without any history of DS. Genotyping was performed by ARMS-PCR technique. Statistical analysis was performed by SPSS v.21 software. Results: It indicated that there is a significant difference in allele distribution between case and control groups. The C allele for 112 codon of APOE gene and the C allele for 158 codon of APOE gene may associate with nondisjunction. In 112 codon of APOE gene, it seems having T allele reduces the risk of nondisjunction and in contrast C allele may be a risk factor in happening of nondisjunction. (p-value = 0.000006, OR = 2.66, 95% CI = 1.74 - 4.06). In 158 codon of APOE gene, it seems having T allele reduces the risk of nondisjunction and in contrast C allele may be a risk factor in happening of nondisjunction. (p-value = 0.0000, OR = 3.89, 95% CI = 2.38 - 6.34). E4 allele frequency in mothers of DS is about 14% more than those in control group. According to results of this study the C allele in 158 codon of APOE gene and the C allele in 112 codon of APOE gene could be considered as susceptibility genetic factors for nondisjunction in Northeast of Iran.
文摘Introduction: Juvenile idiopathic arthritis (JIA) represents a heterogeneous group of childhood chronic arthritic conditions. The pathogenesis of JIA remains incompletely understood. This disease can lead to a significant morbidity including joint deformity, growth impairment and a persistence of active arthritis into adulthood. The past two decades have witnessed significant advances in treatment and improved outcomes for affected children. With the current use of biologics, more target-specific, better tolerated, safer and more effective treatments have become possible. However, continuing, comprehensive follow-up is needed to characterize the long-term effects of such treatments. Hyperimmunoglobulin E syndrome (hyper-IgE, or Job’s syndrome) is a rare immune deficiency characterized by high IgE levels, atopic chronic eczema, tendency towards re-current pyogenic infection, neutrophil chemotaxis disorder and varying T-cell function impairment. Case Report: The case of a 17-year-old male patient with hyper-IgE who develops the oligoarticular subtype of JIA over a period of four years is discussed. The course of JIA is unfavorable, causing severe deformity of numerous joints (left elbow, right 3rd metacarpophalangeal, left knee, right ankle) and a fungal infection scar on the left eye. Blood tests show an ESR of 89 mm/h, rheumatoid factor (RF) 8.3 IU/mL (0 - 20) and positive antinuclear antibody (ANA). To improve gait, corrective surgery is performed on the right ankle, followed by rehabilitation and physical therapy. Conclusion: Developments in the near future will be crucial for understanding JIA pathophysiology and improving treatment.
基金This work is supported by grant from Beijing Tide Pharmaceutical Co,Ltd.
文摘Objective:To investigate the effect of prostaglandin E1 (PGE1) (Alprostadii injection) on patients with primary nephrotic syndrome(PNS). Methods: 37 patients with PNS were recruited to study the effect of prostaglandin E1 on platelet aggregation function [ PAG (5,) PAG( m ) ], serum total protein (TP) , albumin (Al),blood urea nitrogen(BUN) ,serum creatinine(Scr) ,cholesterol(CHO), triglyceride(TG), protein in 24-hour urine (Pr/24h) and platelet account (PLT). Results: TP, Al, CHO, TG, BUN, Scr, Pr/24h, PAG(5) and PAG(m) in PNS group before treatment were significantly different from those in control group(P<0.05, P<0.01) while no significant difference was found for PLT. When treated with PGE1 , TP,Al,CHO, TG, Pr/24h, ADP- induced PAG(5) ,and Adr- induced PAG(5) and PAG(m) were significantly different from those before treatment (P<0.05). Adr- induced PAG(5) and PAG(m) were significantly different. Adr- induced PAG(5) was xsitively correlated with BUN and Scr in PNS(P<0.01). Similar correlation was found between ADP-induced PAG(5) and Al ,BUN,Scr,Pr/24h(P<0.05), AD- induced PAG(m) and TP,CHO(P<0.05). Conclusions: PGE1 may be an effective drug for the treatment for hypercoagulation in patients with PNS.
文摘目的探索胃癌、慢性胃病患者脾证分型与 cyclin E 表达的关系.方法在胃癌和慢性胃病患者中,选取具有中医脾虚表现的脾气(阳)虚、脾阴虚患者,和具有脾实表现的脾胃湿热、寒湿困脾证患者,以及按慢性浅表性胃炎、肠上皮化生、不典型增生、胃癌分组的患者,进行胃粘膜组织 cyclin E 免疫组化染色;对各证型的 cyclin E 表达进行比较,并分析 cyclin E 在常见胄粘膜病变中表达的差异.结果 cyclin E 在上述四种脾证分型的表达有显著性差异,阳性百分率分别为7.9%,27.3%,31.4%和14.3%.在慢性浅表性胄炎、肠上皮化生、不典型增生和胃癌的表达也有显著性差异,阳性率分别为7.5%,28.6%,37.9%和42.6%,后两者已较接近.结论胃癌和慢性胃病患者中,不同的中医脾证其 cyclin E 表达明显不同,在脾胃湿热和睥阴虚证型中较高,在寒湿困脾和脾气(阳)虚证型中较低.cyclin E 表达随病变由慢性浅表性胃炎、癌前病变到癌而逐渐增高,其与胃癌的发生发展密切相关.