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Atomically dispersed catalysts are a promising alternative to platinum group metal catalysts for catalyzing the oxygen reduction reaction (ORR), while limited durability during the electrocatalytic process severely restricts their practical application. Here, we report an atomically dispersed Co-doped carbon-nitrogen bilayer catalyst with unique dual-axial Co-C bonds (denoted as Co/DACN) by a smart phenyl-carbon-induced strategy, realizing highly efficient electrocatalytic ORR in both alkaline and acidic media. The corresponding half-wave potential for ORR is up to 0.85 and 0.77 V (vs. reversible hydrogen electrode (RHE)) in 0.5 M H2SO4 and 0.1 M KOH, respectively, representing the best ORR activity among all non-noble metal catalysts reported to date. Impressively, the Zn-air battery (ZAB) equipped with Co/DACN cathode achieves outstanding durability after 1,688 h operation at 10 mA cm-2 with a high current density (154.2 mA cm-2) and a peak power density (210.1 mW cm-2). Density functional theory calculations reveal that the unique dual-axial cross-linking Co-C bonds of Co/DACN significantly enhance the stability during ORR and also facilitate the 4e- ORR pathway by forming a joint electron pool due to the improved interlayer electron mobility. We believe that axial engineering opens a broad avenue to develop high-performance heterogeneous electrocatalysts for advanced energy conversion and storage.
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Ferroptosis is a promising therapeutic approach for combating malignant cancers, but its effectiveness is limited in clinical due to the adaptability and self-repair abilities of cancer cells. Mitochondria, as the pivotal player in ferroptosis, exhibit tremendous therapeutic potential by targeting the intramitochondrial anti-ferroptotic pathway mediated by dihydroorotate dehydrogenase (DHODH). In this study, an albumin-based nanomedicine was developed to induce augmented ferroptosis in triple-negative breast cancer (TNBC) by depleting glutathione (GSH) and inhibiting DHODH activity. The nanomedicine (ATO/SRF@BSA) was developed by loading sorafenib (SRF) and atovaquone (ATO) into bovine serum albumin (BSA). SRF is an FDA-approved ferroptosis inducer and ATO is the only drug used in clinical that targets mitochondria. By combining the effects of SRF and ATO, ATO/SRF@BSA promoted the accumulation of lipid peroxides within mitochondria by inhibiting the glutathione peroxidase 4 (GPX4)-GSH pathway and downregulating the DHODH-coenzyme Q (CoQH2) defense mechanism, triggers a burst of lipid peroxides. Simultaneously, ATO/SRF@BSA suppressed cancer cell self-repair and enhanced cell death by inhibiting the synthesis of adenosine triphosphate (ATP) and pyrimidine nucleotides. Furthermore, the anti-cancer results showed that ATO/SRF@BSA exhibited tumor-specific killing efficacy, significantly improved the tumor hypoxic microenvironment, and lessened the toxic side effects of SRF. This work presents an efficient and easily achievable strategy for TNBC treatment, which may hold promise for clinical applications.
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Ferroptose , Neoplasias de Mama Triplo Negativas , Humanos , Di-Hidro-Orotato Desidrogenase , Neoplasias de Mama Triplo Negativas/tratamento farmacológico , Peróxidos Lipídicos , Soroalbumina Bovina , Atovaquona , Glutationa , Linhagem Celular Tumoral , Microambiente TumoralRESUMO
Purpose@#This study aims to investigate the current status of affiliate stigma among parents of autistic children, analyze the influencing factors, explore the relationship among mindfulness, coping styles, and affiliate stigma, and verify the mediating role of coping styles between mindfulness and affiliate stigma in parents of children with autism in China.MethodBetween February and April 2023, the Child Development Behaviour Centre of a public hospital in China recruited 345 parents of children with autism. These parents completed the general information questionnaire, the Mindful Attention Awareness Scale, the Affiliate Stigma Scale, and the Simple Coping Style Questionnaire. We then adapted the Hayes Process Macro and Bootstrap methods to examine the mediating effects of coping styles between mindfulness and affiliate stigma. @*Results@#(1) The total affiliate stigma score of parents of children with autism was 48.53 (standard deviation:: 10.74). Parents' age, monthly family income, duration of care, mindfulness, and coping styles were the influencing factors of parental affiliate stigma. (2) Mindfulness was positively correlated with positive coping style (r = 0.33, p < .01) and negatively correlated with negative coping style, affiliate stigma (r = −0.38, −0.39, p < .01), whereas affiliate stigma was negatively correlated with positive coping style (r = −0.34, p < .01) and positively correlated with negative coping style (r = 0.41, p < .01). (3) Positive coping style and negative coping style play a parallel mediating role between mindfulness and affiliate stigma of parents of autistic children. @*Conclusions@#Parents of children with autism experience significant levels of affiliate stigma. Mindfulness has a direct impact on associated stigma in parents of children with autism and also indirectly predicts associated stigma through the intermediary influence of positive and negative coping styles. Healthcare professionals could perform mindfulness interventions from an optimistic psychology viewpoint to boost parents' mindfulness and coping abilities, thereby accomplishing the objective of mitigating affiliate stigma.
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The neurotoxin β-amyloid (Aβ) is the main hallmark of Alzheimer′s disease (AD). Recent evidence suggests that, in common sporadic or late-onset forms of AD, elevated brain Aβ levels are caused by impaired clearance rather than overproduction. The cell surface receptor′s low-density lipoprotein receptor-related protein-1 (LRP1) has been reported to not only play a role in Aβ endocytosis, but also exist in the blood-brain barrier system, peripheral blood, liver, kidney and other tissues and organs, and transport Aβ to the cerebrospinal fluid or blood system by passing through the blood-brain barrier or the blood-cerebrospinal fluid barrier effectively, and finally clear it out of the body through peripheral tissues and organs. In this review, the role of LRP1 in the peripheral transport and clearance of Aβ is described, and it may be a safe and effective way to reduce Aβ in the brain and even improve cognitive dysfunction.
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By collecting and analyzing the explanation/conception, acupoint name, acupoint location, indications, acupuncture and moxibustion techniques and contraindications of
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Humanos , Acupuntura , Pontos de Acupuntura , Terapia por Acupuntura , Meridianos , MoxibustãoRESUMO
Objective:To observe the difference in drying dampness between Scutellariae Radix and Atractylodis Rhizoma in model rats with spleen-stomach dampness-heat syndrome and clarify their property-efficacy relationship. Method:Sixty-four healthy male SD rats were randomized into the blank group, model group, high-, medium-, and low-dose Scutellariae Radix groups, as well as high-, medium-, and low-dose Atractylodis Rhizoma groups. The rats were exposed to high-fat and high-sugar diet and external dampness-heat environment for 20 days for inducing the spleen-stomach dampness-heat syndrome. The macroscopic manifestations of rats were observed and the morphological changes in stomach and colon were detected under a light microscope after hematoxylin-eosin (HE) staining, followed by the calculation of pathological scores. The serum tumor necrosis factor-<italic>α</italic> (TNF-<italic>α</italic>), interleukin-4 (IL-4), and interferon-<italic>γ</italic> (IFN-<italic>γ</italic>) levels were determined by enzyme-linked immunosorbent assay (ELISA). The protein and mRNA expression levels of aquaporin-4 (AQP4) in the gastric tissue were measured by Western blot and Real-time polymerase chain reaction (Real-time PCR), respectively. Result:Rats in the model group presented with the manifestations of dampness-heat syndrome. The inflammatory reaction in stomach and colon was obvious, and the pathological score was significantly increased (<italic>P</italic><0.01). The serum IFN-<italic>γ</italic>, IL-4, and TNF-<italic>α</italic> levels were elevated (<italic>P</italic><0.05), and so were the AQP4 protein and mRNA expression levels in the gastric tissue except that there was no statistical difference. The clinical symptoms of rats in the medication groups were alleviated. Scutellariae Radix significantly relieved the gastric and colonic inflammation in model rats. Atractylodis Rhizoma inhibited the colonic inflammation in model rats to a certain extent, but it had no obvious effect on gastric inflammation. The pathological score of each Scutellariae Radix group was decreased. In terms of the pathological score of gastric tissue, only the high-dose Scutellariae Radix produced a significant difference (<italic>P</italic><0.01), and the pathological scores of the three Atractylodis Rhizoma groups were not significantly different from that in the model group. As for the pathological score of colonic tissue, all the medication groups except for the low-dose Atractylodis Rhizoma group exhibited a significant difference in comparison with that of the model group (<italic>P</italic><0.01). Scutellariae Radix and Atractylodis Rhizoma at each dose reduced not only the serum IFN-<italic>γ</italic>, IL-4, and TNF-<italic>α</italic> levels (<italic>P</italic><0.05, <italic>P</italic><0.01), but also the AQP4 protein expression in gastric tissue of model rats (<italic>P</italic><0.01). The AQP4 mRNA expression in the gastric tissue of model rats declined in the high- and low-dose Scutellariae Radix groups, while that in the medium-dose Scutellariae Radix group and each Atractylodis Rhizoma group rose without statistical difference. Conclusion:Scutellariae Radix and Atractylodis Rhizoma display a certain property-efficacy relationship in drying dampness of rats with spleen-stomach dampness-heat syndrome. Specifically, the efficacy of drying dampness is related to their cold/heat property, and the resulting outcome of bitter-cold Scutellariae Radix is better than that of bitter-warm Atractylodis Rhizoma.
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As an important zoonotic pathogen, Staphylococcus aureus has led to serious mastitis and endometritis in infected dairy cows. In this study, a total of 164 strains of S. aureus were isolated from dairy cows in Xinjiang Province, China, and subjected to assays to determine drug susceptibility and biofilm (BF) formation ability. Enterotoxin-related genes were detected, and the transcription levels of genes related to BF formation were determined by using reverse transcription-quantitative polymerase chain reaction. Moreover, the pathogenicity of isolates with different BF formation abilities was determined by measuring their hemolysis activity, half lethal dose (LD₅₀) and organ bacterial load. The results showed that 86.0% of S. aureus isolates could form BF. Among them, 42.1% of the strains had weak BF formation ability, and most strains with a strong BF formation ability were ica gene carriers. The S. aureus isolates displayed multidrug resistance and their drug resistance was positively correlated with their BF formation ability. Moreover, 96.3% of the S. aureus isolates carried enterotoxin genes. Among them, the detection rates of the novel enterotoxin genes were higher than those of conventional enterotoxin genes. Furthermore, isolates with a strong BF formation ability had higher LD50 but lower hemolysis ability and organ bacterial load than those of the isolates with weak or no BF ability. However, isolates without BF ability produced more severe pathological changes than those of isolates with strong BF formation ability. These findings suggest that higher BF ability and presence of novel enterotoxin genes are important characteristics of S. aureus isolates from dairy cows in Xinjiang Province, China, and such isolates may pose potential threats to food safety.
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Feminino , Carga Bacteriana , Biofilmes , China , Resistência a Medicamentos , Resistência Microbiana a Medicamentos , Resistência a Múltiplos Medicamentos , Endometrite , Enterotoxinas , Inocuidade dos Alimentos , Hemólise , Dose Letal Mediana , Mastite , Reação em Cadeia da Polimerase , Staphylococcus aureus , Staphylococcus , VirulênciaRESUMO
, the famous medical scholar of the Northern Song Dynasty, compiled (, hereinafter referred to as ) based on the acupuncture achievements before the Song Dynasty. In reference to the records in , two acupuncture bronze figures were made and all of the text was inscribed on the stele. 's academic characteristics on acupuncture are reflected through these three different forms, including 4 aspects. ① Establishing the supplementation and classification of the numbers of acupoints; ② elaborating the indications of meridians and application of acupoints; ③ stressing the contraindication and nursing of prognosis; ④ revising acupuncture atlas and bone proportional measurement. , the bronze figure and the stele represent the eminent academic achievements of acupuncture in the Song Dynasty and have become the treasure of acupuncture history in China.
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Terapia por Acupuntura , China , MeridianosRESUMO
<p><b>OBJECTIVE</b>To evaluate whether the berberine treatment can improve endothelial repair capacity of early endothelial progenitor cells (EPCs) from prehypertensive subjects through increasing CXC chemokine receptor 4 (CXCR4) signaling.</p><p><b>METHODS</b>EPCs were isolated from prehypertensive and healthy subjects and cultured. In vivo reendothelialization capacity of EPCs from prehypertensive patients with or without in vitro berberine treatment was examined in a nude mouse model of carotid artery injury. The protein expressions of CXCR4/Janus kinase-2 (JAK-2) signaling of in vitro EPCs were detected by Western blot analysis.</p><p><b>RESULTS</b>CXCR4 signaling and alteration in migration and adhesion functions of EPCs were evaluated. Basal CXCR4 expression was significantly reduced in EPCs from prehypertensive patients compared with normal subjects (P<0.01). Also, the phosphorylation of JAK-2 of EPCs, a CXCR4 downstream signaling, was significantly decreased (P<0.01). Berberine promoted CXCR4/JAK-2 signaling expression of in vitro EPCs (P<0.01). Transplantation of EPCs pretreated with berberine markedly accelerated in vivo reendothelialization (P<0.01). The increased in vitro function and in vivo reendothelialization capacity of EPCs were inhibited by CXCR4 neutralizing antibody or pretreatment with JAK-2 inhibitor AG490, respectively (P<0.01).</p><p><b>CONCLUSION</b>Berberinemodified EPCs via up-regulation of CXCR4 signaling contributes to enhanced endothelial repair capacity in prehypertension, indicating that berberine may be used as a novel potential primary prevention means against prehypertension-related atherosclerotic cardiovascular disease.</p>
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OBJECTIVE@#This study investigated complementary feeding practices among four ethnic groups (Han, Uygur, Tibetan, and Zhuang) based on a cross-sectional survey in rural western China.@*METHODS@#In 2005, a stratified multistage cluster random sampling method was used to recruit 9712 children (7411 Han, 1032 Uygur, 678 Tibetan, and 591 Zhuang) between 6 and 35 months of age and their mothers from 45 counties in 10 provinces (autonomous regions, municipalities) in western China.@*RESULTS@#The rates of early introduction (before 6 months) of complementary foods in four ethnic groups (Han, Uygur, Tibetan, and Zhuang) were 71.30%, 95.95%, 82.40%, and 72.30%, respectively. The Infant and Child Feeding Index (ICFI) for Uygur and Tibetan children was lower than that for Han children at all age groups. Uygur children were more likely to have unqualified ICFI compared with Han children in a multivariate logistic regression (odds ratio (OR)=5.138, 95% confidence interval (CI): 4.340-6.084). A higher level of maternal education, greater family wealth, and the availability of complementary feeding educational materials decreased the likelihood of an unqualified ICFI. The nutritional status of children (Han, Tibetan, and Zhuang) with qualified ICFI was better than that for children with unqualified ICFI.@*CONCLUSIONS@#Appropriate interventions are required to improve complementary feeding practices in rural western China.
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Adulto , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Adulto Jovem , Povo Asiático , China , Análise por Conglomerados , Estudos Transversais , Escolaridade , Etnicidade , Comportamento Alimentar/etnologia , Fenômenos Fisiológicos da Nutrição do Lactente/etnologia , Análise Multivariada , Estado Nutricional , Razão de Chances , População Rural , Classe Social , Inquéritos e QuestionáriosRESUMO
Objective To investigate the characteristics of EGFR,ALK and ROS1 mutations in patients with non-small cell lung cancer (NSCLC) in South of China and its relationship with clinical features.Methods The tumor tissues and corresponding clinical data of 76 NSCLC patients in South of China from November 2016 to June 2017 were collected.The mutations of EGFR,ALK and ROS1 were detected by ARMS assay with Joint detection kit.Meanwhile,the correlation between gene mutation rate and clinical features was analyzed.Results The mutation rate of EGFR was 67.3% (42/76) in 76 patients with NSCLC in South of China,19 del and L858R mutations were the main mutation types.There was a co-mutation including 19 del and L858R.The positive rate of ALK gene fusion was 17.1% (13/76),and 4 cases of ALK gene fusion combined with EGFR mutation were detected.The positive rate of ROS1 gene fusion was 1.3% (1/76),and there was no co-mutation with other genes.Compared with ROS1,EGFR and ALK mutation rate was higher,the difference was statistically significant (x2 =54.515,P =0.000;x2 =11.329,P =0.001).The mutation rate of EGFR in non-smoking NSCLC patients was significantly higher than that in smokers (x2 =4.578,P=0.032),while the mutation rate of ALK and ROS1 was not statistically significant (x2=0.000,P>0.05).There was no statistically significant difference in EGFR,ALK and ROS1 gene mutation rates among NSCLC patients of different age,sex and histology (x2 =0.000 ~ 2.219,P> 0.05).Conclusion EGFR,ALK and ROS1 gene mutations can be seen in patients with NSCLC in South China,in which EGFR and ALK gene mutation rate is higher.
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Objective The aim of this study was to determine whether active part of Glycyrrhiza extract (GL)induced apoptosis in Hela cells and its inhibitory mechanism.Methods HeLa cells were treated with 25 g/mL of GL for 24hs.Cell viability and apoptosis in HeLa cells were determined by MTT,AO/EB fluorescent double staining,transmission electron microscope(TEM),and Western blot.Results The MTT results showed that GL significantly inhibited the proliferation of HeLa cells in a dose-response.After treatment for 24 hrs,large number of early apoptotitc cell were observed using AO/EB fluorescent double staining and TEM.The expression of Pro-caspase-9 and Cleaved-caspase-3 protein was higher in GL-treated cells them those of the control cells(P<0.05).Conclusion GL can activate Caspase-3 and Caspase-9 genes to induce apoptosis in HeLa cells.
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Objective The aim of this study was to determine whether active part of Glycyrrhiza extract (GL)induced apoptosis in Hela cells and its inhibitory mechanism.Methods HeLa cells were treated with 25 g/mL of GL for 24hs.Cell viability and apoptosis in HeLa cells were determined by MTT,AO/EB fluorescent double staining,transmission electron microscope(TEM),and Western blot.Results The MTT results showed that GL significantly inhibited the proliferation of HeLa cells in a dose-response.After treatment for 24 hrs,large number of early apoptotitc cell were observed using AO/EB fluorescent double staining and TEM.The expression of Pro-caspase-9 and Cleaved-caspase-3 protein was higher in GL-treated cells them those of the control cells(P<0.05).Conclusion GL can activate Caspase-3 and Caspase-9 genes to induce apoptosis in HeLa cells.
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Objective To establish the PCR amplification and sequencing system of Hsa-miR-17 gene promoter region.Methods To establish the PCR amplification and sequencing system of Hsa-miR-17 gene promoter region and evaluate its performance by analyzing the sequence characteristics,designing PCR and sequencing primers,extracting sample genome DNA from different human cell lines and using optimization strategy of adding DMSO to the final concentration of 5 % and making use of 5' tailed PCR primers;Then the established system was further verified in 10 other cell line samples.Results The PCR amplification and sequencing system of hsa-miR-17 gene promoter region,which had good repeatability,good specificity and its detection limit was 10 ng/μl,was established successfully under the condition of using 5' tailed PCR primers and 5 % DMSO and that was confirmed by electrophoresis analysis and Sanger sequencing.And fragment of Has-miR-17 gene promoter region in 10 human cell lines were successfully achieved and verified by this system.Conclusion The PCR system of Hsa-miR-17 gene promoter region was established successfully.
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Exosomes secreted by mesenchymal stem cells have shown great therapeutic potential in regenerative medicine .In this study, we performed meta-analysis to assess the clinical effectiveness of using exosomes in ischemia /reperfusion injury based on the reports pub-lished between January 2000 and September 2015 and indexed in the PubMed and Web of Science databases .The effect of exosomes on heart function was evaluated according to the following parameters:the area at risk as a percentage of the left ventricle , infarct size as a percentage of the area at risk , infarct size as a percentage of the left ventricle , left ventricular ejection fraction , left ventricular frac-tion shortening , end-diastolic volume , and end-systolic volume .Our analysis indicated that the currently available evidence confirmed the therapeutic potential of mesenchymal stem cell-secreted exosomes in the improvement of heart function .However , further mechanis-tic studies, therapeutic safety and clinical trials are required for optimization and validation of this approach to cardiac regeneration after ischemia/reperfusion injury .
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AIM:Atherosclerosis primarily involved systemic arteries .Luminal surface , a monolayer of endothelial cells , of artery directly exposes to blood and is susceptible to active substances in the blood .Exosomes contain significantly amount of proteins and RNAs .Ex-osomes can be good and bad for cells , depending on their component .Thus, exosomes may contribute to atherosclerosis by affecting endothelial cells .This study analyzed the relationship of exosome proteins and atherosclerosis .METHODS: Fifty-six patients and healthy subjects were recruited and divided into two comparisons:healthy subjects vs atherosclerosis ( HS vs AS) , and hypertension vs hypertension plus atherosclerosis ( HT vs HT+AS) .Serum exosomes were decoded by protein mass spectrometry .The protein profile and function were analyzed by gene ontology ( GO) .RESULTS:It was found that five child terms repeatedly appeared in “response to stimulus” and “immune system process” of BP of the two categories ( HS vs AS and AS vs HT+AS):“positive regulation of innate immune response”,“immune response-activating signal transduction”,”activation of innate immune response”,“innate immune re-sponse-activating signal transduction” and “innate immune response activating cell surface receptor signaling pathway ”.Two child terms repeatedly showed in “binding” of MF of the two categories:“antigen binding” and “enzyme binding”.Two proteins, PSMA6 and PSMA7, were repeatedly shown in the two categories .CONCLUSION:GO analysis was utilized for structure hierarchy “tree” to illustrate these proteins involved in various terms in BP , CC and MF.The PPI analysis supplied proteins which may play potentially im-portant roles in AS process .Innate immune system and blood coagulation pathway contribute to AS formation .The proteins, PSMA6, PSMA7 and Annexin A2, may can be the new target proteins for prevention and treatment of AS .
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AIM:To analyze the proteins included in exosomes derived from blood of patients with hypertension and seek the main pathologi -cal changes in hypertension .METHODS:Forty-seven patients and healthy subjects were recruited and divided into two comparisons :healthy subjects vs atherosclerosis ( HS vs AS) , and atherosclerosis vs hypertension plus atherosclerosis ( AS vs HT+AS) .We extrac-ted exosomes from blood and utilized LC-MS/MS to identify the protein expression .We used GO analysis to established the hierarchy programs of biological process and molecular function .PPI was used to find the proteins related to the terms .RESULTS:It was found that three final child terms repeatedly shown in BP of the two categories ( HS vs AS and AS vs HT+AS):“signal transduction in re-sponse to DNA damage”,“response to zinc ion”, and“platelet aggregation”.It was found that two final child terms in MF of the two categories:“interleukin 2 receptor binding” and“ploy(A) RNA binding”.The proteins, PSMA6, PSMA7 and CA2, were related to the terms in the two categories .CONCLUSION: We discovered that the exosome proteins may indicate the pathological changes in hypertension through the biological processes related with the specific proteins .These specific proteins, such as VCL, PSMA6, DP, AKAP, ATP5B and CA2, can be the new indicators for severity of hypertension and new therapeutic targets .
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AIM:To investigate the effects of human induced pluripotent stem cell-derived exosomes (hiPSC-exo) on cell viability, capillary-like structure formation , and senescence in endothelial cells exposed to high glucose .METHODS: Exosomes were isolated from the conditional medium of hiPSCs and confirmed by transmission electron microscopy , nanoparticle tracking analysis , and Western blot analysis using Alix and CD63 as markers.hiPSC-exo were labeled with PKH26 for tracking.Cultured HUVECs were treated with high glucose (33 mmol/L) with or without hiPSC-exo (20 mg/L) for 48 h, and cell viability, capillary tube formation, and senescence were assessed .RESULTS:hiPSC-exo showed a typical cup shape and could be taken up by human umbilical vascular endothelial cells (HUVECs) in a concentration-dependent manner.When exposed to high glucose, viability and tube formation in HUVECs was signifi-cantly reduced, whereas the proportion of senescent cells was higher compared to that in control HUVECs (P<0.01).Furthermore, hiPSC-exo restored cell viability and capillary-like structure formation , and reduced senescence in HUVECs exposed to high glucose (P<0.01).However, hiPSC-exo had minimal effects on normal HUVECs.Therefore, stem cell-derived exosomes can promote cell proliferation, enhance capillary-like structure formation , and reduce senescence in endothelial cells exposed to high glucose . CONCLUSION:Our study highlights the role of exosomes derived from hiPSC and may provide a new strategy for maintaining vascular health, preventing vascular aging , and avoiding pathological vascular remodeling that occurs in many diseases .
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<p><b>OBJECTIVE</b>To analyze clinical features and mutations of EFEMP1 gene in a Chinese pedigree with familial dominant drusen.</p><p><b>METHODS</b>Clinical features of the pedigree were studied with fundus photography, fundus fluorescein angiography and optical coherence tomography. Molecular genetic analysis was performed on the patients and unaffected individuals from the family. All coding exons of the EFEMP1 gene were amplified by polymerase chain reaction (PCR) and sequenced. The results were compared with wild-type sequences from NCBI. The proband who had suffered from choroidal neovascularization and preretinal hemorrhage received an intravitreal injection of an anti-vascular endothelial growth factor (VEGF) preparation.</p><p><b>RESULTS</b>A heterozygous mutation C>T (R345W) was identified in exon 10 of the EFEMP1 gene in two affected individuals from the family. The same mutation was not detected in unaffected family members and 100 healthy individuals. Postoperative follow-up of the patient receiving intravitreal injection of anti-VEGF drug showed that visual acuity was improved and fundus appeared to be stable.</p><p><b>CONCLUSION</b>The R345W mutation in EFEMP1 is responsible for the dominant drusen in this family. Intravitreal injection of anti-VEGF drug is a promising treatment for the improvement in vision.</p>
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Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Povo Asiático , Genética , Sequência de Bases , Éxons , Proteínas da Matriz Extracelular , Genética , Genes Dominantes , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Drusas Retinianas , Genética , Metabolismo , Fator A de Crescimento do Endotélio Vascular , MetabolismoRESUMO
Many studies have reported the relationship between CXCL12 G801A polymorphism and cancer risk, with conflicting results. In this study, we tried to clarify the possibility that this polymorphism may increase cancer risk by conducting an updated meta-analysis. PubMed and EMbase were searched for case-control studies regarding the association of the gene polymorphism and cancer risk. Data were extracted and odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to assess the strength of the association. Heterogeneity among articles and publication bias was also assessed. Significantly increased risk for cancer was found (A vs. G: OR=1.26, 95% CI=1.13-1.40, P<0.01; AA+AG vs. GG: OR=1.33, 95% CI=1.16-1.52, P<0.01). In subgroup analysis, statistically elevated cancer risk was found in both Asian and Caucasian populations (for Asian, AA+AG vs. GG: OR=1.74, 95% CI=1.22-2.47, P<0.01; for Caucasian, AA+AG vs. GG: OR=1.24, 95% CI=1.09-1.42, P<0.01). Our result indicated that CXCL12 G801A polymorphism is a risk factor for cancer. To validate the finding, further large-size case-control studies are warranted.