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
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
背景呼吸窘迫综合征(RDS)是导致早产儿死亡的重要原因,需不断加强临床预防及治疗,但目前关于脐血维生素A、E水平与早产儿发生RDS的关系研究报道较少。目的探讨脐血维生素A、E水平与早产儿发生RDS的关系。方法选取2021年1月—2022年1月...背景呼吸窘迫综合征(RDS)是导致早产儿死亡的重要原因,需不断加强临床预防及治疗,但目前关于脐血维生素A、E水平与早产儿发生RDS的关系研究报道较少。目的探讨脐血维生素A、E水平与早产儿发生RDS的关系。方法选取2021年1月—2022年1月在石家庄市第四医院出生的早产儿304例,根据RDS发生情况将其分为RDS组120例与非RDS组184例。收集与早产儿发生RDS可能相关的临床特征并检测脐血维生素A、E水平;早产儿发生RDS及RDS严重程度的影响因素分析采用多因素Logistic回归分析。结果RDS组早产儿胎龄、出生体质量小于非RDS组,1 min Apgar评分≤7分比例、5 min Apgar评分≤7分比例、维生素A缺乏发生率高于非RDS组,脐血维生素A、E水平低于非RDS组(P<0.05)。RDS组早产儿中轻症86例,重症34例;重症RDS早产儿脐血维生素A水平低于轻症RDS早产儿,维生素A缺乏发生率高于轻症RDS早产儿(P<0.05)。多因素Logistic回归分析结果显示,脐血维生素A水平为早产儿发生RDS的影响因素[OR=2.208,95%CI(1.156,4.218),P<0.05];维生素A缺乏为早产儿发生重症RDS的影响因素[OR=6.835,95%CI(2.537,18.416),P<0.05]。结论发生RDS的早产儿脐血维生素A、E水平较低,脐血维生素A水平为早产儿发生RDS及其严重程度的影响因素,建议在妊娠期适当补充维生素A以减少早产儿RDS的发生及减轻其严重程度。展开更多
Physical exe rcise effectively alleviates chronic pain associated with complex regional pain syndrome type-Ⅰ.However,the mechanism of exe rcise-induced analgesia has not been clarified.Recent studies have shown that ...Physical exe rcise effectively alleviates chronic pain associated with complex regional pain syndrome type-Ⅰ.However,the mechanism of exe rcise-induced analgesia has not been clarified.Recent studies have shown that the specialized pro-resolving lipid mediator resolvin E1 promotes relief of pathologic pain by binding to chemerin receptor 23 in the nervous system.However,whether the resolvin E1-chemerin receptor 23 axis is involved in exercise-induced analgesia in complex regional pain syndrome type-Ⅰ has not been demonstrated.In the present study,a mouse model of chronic post-ischemia pain was established to mimic complex regional pain syndrome type-Ⅰ and subjected to an intervention involving swimming at different intensities.Chronic pain was reduced only in mice that engaged in high-intensity swimming.The resolvin E1-chemerin receptor 23 axis was clearly downregulated in the spinal cord of mice with chronic pain,while high-intensity swimming restored expression of resolvin E1 and chemerin receptor 23.Finally,shRNA-mediated silencing of chemerin receptor 23in the spinal cord reve rsed the analgesic effect of high-intensity swimming exercise on chronic post-ischemic pain and the anti-inflammato ry pola rization of microglia in the dorsal horn of the spinal cord.These findings suggest that high-intensity swimming can decrease chronic pain via the endogenous resolvin E1-chemerin receptor 23 axis in the spinal cord.展开更多
Objective:To investigate the protective effect of vitamin E in dehydroepiandrosterone(DHEA)-induced polycystic ovary in rats.Methods:Premature female Wistar rats were randomly allocated into four groups,with 7 rats in...Objective:To investigate the protective effect of vitamin E in dehydroepiandrosterone(DHEA)-induced polycystic ovary in rats.Methods:Premature female Wistar rats were randomly allocated into four groups,with 7 rats in each group.Group栺received corn oil(vehicle)and served as the control group;group栻received 0.2 mL of 0.06 mg/g DHEA in corn oil;group栿received 200 mg/kg vitamin E;group桇received DHEA plus vitamin E.All treatments lasted for 15 days,with DHEA administered subcutaneously,while vitamin E and corn oil were administered orally.After the experiment,serum samples and ovaries were harvested for biochemical,immunohistochemical,hormonal,and histological analysis.The ovarian mRNA expression of androgen receptor was analyzed by reverse transcriptase quantitative polymerase chain reaction(qPCR).Results:The antioxidant and metabolic enzyme activity significantly decreased in the DHEA-treated rats compared to the control rats(P<0.05).Administration of vitamin E to DHEAtreated rats significantly decreased cytokines and malondialdehyde compared to the DHEA-treated rats.The histological analysis showed reduced atretic and cystic ovaries,increased E-cadherin and Bcl-2 expression,and reduced expression of Bax in the DHEAtreated rats co-treated with vitamin E.The mRNA expression of androgen receptor was upregulated in the DHEA-treated rats compared to the control rats.Conclusions:Vitamin E ameliorates the hyperandrogenic effect of DHEA-induced polycystic ovaries via metabolic,antioxidant,and anti-apoptotic pathways.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.
文摘背景呼吸窘迫综合征(RDS)是导致早产儿死亡的重要原因,需不断加强临床预防及治疗,但目前关于脐血维生素A、E水平与早产儿发生RDS的关系研究报道较少。目的探讨脐血维生素A、E水平与早产儿发生RDS的关系。方法选取2021年1月—2022年1月在石家庄市第四医院出生的早产儿304例,根据RDS发生情况将其分为RDS组120例与非RDS组184例。收集与早产儿发生RDS可能相关的临床特征并检测脐血维生素A、E水平;早产儿发生RDS及RDS严重程度的影响因素分析采用多因素Logistic回归分析。结果RDS组早产儿胎龄、出生体质量小于非RDS组,1 min Apgar评分≤7分比例、5 min Apgar评分≤7分比例、维生素A缺乏发生率高于非RDS组,脐血维生素A、E水平低于非RDS组(P<0.05)。RDS组早产儿中轻症86例,重症34例;重症RDS早产儿脐血维生素A水平低于轻症RDS早产儿,维生素A缺乏发生率高于轻症RDS早产儿(P<0.05)。多因素Logistic回归分析结果显示,脐血维生素A水平为早产儿发生RDS的影响因素[OR=2.208,95%CI(1.156,4.218),P<0.05];维生素A缺乏为早产儿发生重症RDS的影响因素[OR=6.835,95%CI(2.537,18.416),P<0.05]。结论发生RDS的早产儿脐血维生素A、E水平较低,脐血维生素A水平为早产儿发生RDS及其严重程度的影响因素,建议在妊娠期适当补充维生素A以减少早产儿RDS的发生及减轻其严重程度。
基金National Key R&D Program of China,Nos.2019YFA0110300 (to LZ),2021YFA1201400 (to LZ)Natural Science Foundation of Shanghai,No.21ZR1468600 (to LZ)Open Fund of the Key Laboratory of Cellular Physiology (Shanxi Medical University),Ministry of Education,No.KLMEC/SXMU-201910 (to XJ)。
文摘Physical exe rcise effectively alleviates chronic pain associated with complex regional pain syndrome type-Ⅰ.However,the mechanism of exe rcise-induced analgesia has not been clarified.Recent studies have shown that the specialized pro-resolving lipid mediator resolvin E1 promotes relief of pathologic pain by binding to chemerin receptor 23 in the nervous system.However,whether the resolvin E1-chemerin receptor 23 axis is involved in exercise-induced analgesia in complex regional pain syndrome type-Ⅰ has not been demonstrated.In the present study,a mouse model of chronic post-ischemia pain was established to mimic complex regional pain syndrome type-Ⅰ and subjected to an intervention involving swimming at different intensities.Chronic pain was reduced only in mice that engaged in high-intensity swimming.The resolvin E1-chemerin receptor 23 axis was clearly downregulated in the spinal cord of mice with chronic pain,while high-intensity swimming restored expression of resolvin E1 and chemerin receptor 23.Finally,shRNA-mediated silencing of chemerin receptor 23in the spinal cord reve rsed the analgesic effect of high-intensity swimming exercise on chronic post-ischemic pain and the anti-inflammato ry pola rization of microglia in the dorsal horn of the spinal cord.These findings suggest that high-intensity swimming can decrease chronic pain via the endogenous resolvin E1-chemerin receptor 23 axis in the spinal cord.
文摘Objective:To investigate the protective effect of vitamin E in dehydroepiandrosterone(DHEA)-induced polycystic ovary in rats.Methods:Premature female Wistar rats were randomly allocated into four groups,with 7 rats in each group.Group栺received corn oil(vehicle)and served as the control group;group栻received 0.2 mL of 0.06 mg/g DHEA in corn oil;group栿received 200 mg/kg vitamin E;group桇received DHEA plus vitamin E.All treatments lasted for 15 days,with DHEA administered subcutaneously,while vitamin E and corn oil were administered orally.After the experiment,serum samples and ovaries were harvested for biochemical,immunohistochemical,hormonal,and histological analysis.The ovarian mRNA expression of androgen receptor was analyzed by reverse transcriptase quantitative polymerase chain reaction(qPCR).Results:The antioxidant and metabolic enzyme activity significantly decreased in the DHEA-treated rats compared to the control rats(P<0.05).Administration of vitamin E to DHEAtreated rats significantly decreased cytokines and malondialdehyde compared to the DHEA-treated rats.The histological analysis showed reduced atretic and cystic ovaries,increased E-cadherin and Bcl-2 expression,and reduced expression of Bax in the DHEAtreated rats co-treated with vitamin E.The mRNA expression of androgen receptor was upregulated in the DHEA-treated rats compared to the control rats.Conclusions:Vitamin E ameliorates the hyperandrogenic effect of DHEA-induced polycystic ovaries via metabolic,antioxidant,and anti-apoptotic pathways.