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1.
Gene ; 722: 144127, 2020 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-31525397

RESUMO

Complement factor H (CFH) serves as a major down-regulator in the complement system, often utilized by bacterial pathogens to evade complement attack. Yet, little is currently known about the genetic correlation of CFH polymorphisms with sepsis due to various microbial infections. A case-control method (488 septic patients and 527 healthy individuals) was carried out in this study to investigate the genetic relationship between CFH polymorphisms (rs3753394 C/T, rs1065489 G/T and rs1061170 C/T) and susceptibility to sepsis caused by bacterial infections in Chinese Han populations. Our findings indicated that the frequency of rs3753394 CT/TT genotype in the septic patients with P. aeruginosa was significantly higher than that in the control individuals (P = 0.033, OR = 2.668, 95%CI = 1.072-6.334). The rs3753394 T allele frequency in the P. aeruginosa-infected patients was significantly increased, compared to that in the healthy controls (P = 0.014, OR = 1.68, 95%CI = 1.118-2.538). Moreover, these significant differences of rs3753394 genotype and allele frequencies remained after multiple testing corrections [P (corr.) = 0.033 for genotype; P (corr.) = 0.033 for allele]. The current study highlighted the significance of CFH polymorphism rs3753394 as a potential biomarker for targeting P. aeruginosa infection in critically ill patients.


Assuntos
Predisposição Genética para Doença , Infecções por Pseudomonas/genética , Pseudomonas aeruginosa , Sepse/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China/etnologia , Fator H do Complemento/genética , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Infecções por Pseudomonas/diagnóstico , Infecções por Pseudomonas/etnologia , Sepse/diagnóstico , Sepse/etnologia , Sepse/microbiologia
2.
Gene ; 7242020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-30898706

RESUMO

AIM: The long noncoding RNAs (lncRNAs) have gradually been reported to be an important class of RNAs with pivotal roles in the development and progression of myocardial infarction (MI). In this study, we hypothesized that genetic variant of cyclin-dependent kinase inhibitor 2B antisense RNA (ANRIL) and metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) may affect the prognosis of MI patients. METHODS: The study included 401 Han Chinese MI patients and 409 controls. Four lncRNA tag single nucleotide polymorphisms (SNPs)-ANRIL rs9632884 and rs1537373, MALAT1 rs619586 and rs3200401-were selected. SNP genotyping was performed by an improved multiplex ligation detection reaction assay. RESULTS: rs9632884 and rs3200401 SNPs were significantly associated with lipid levels in both controls and MI patients (P < 0.003-0.046). Several SNPs interacted with sex and age to modify total cholesterol, low-density lipoprotein cholesterol, and creatinine levels to modify the risk of MI. No association between the lncRNAs SNPs and susceptibility to MI was found (P > 0.05 for all). CONCLUSIONS: Taken together, this study provides additional evidence that genetic variation of the ANRIL rs9632884 and MALAT1 rs3200401 can mediate lipid levels in MI patients.


Assuntos
Colesterol/sangue , Infarto do Miocárdio/genética , RNA Longo não Codificante/genética , Triglicerídeos/sangue , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Colesterol/genética , Doença da Artéria Coronariana/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Hipertensão/genética , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/sangue , Polimorfismo de Nucleotídeo Único , Fumar/genética , Triglicerídeos/genética
3.
Gene ; 724: 144150, 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31589961

RESUMO

Ovarian cancer (OC) is the deadliest form of gynecologic malignancy, with the majority of patients being diagnosed only once the disease reaches an advanced stage owing to a lack of available biomarkers capable of accurately detecting the disease. Stable circular RNAs (circRNAs) can be found at high levels in exosomes, and there is evidence to suggest that they may be viable diagnostic biomarkers for certain cancers. However, circRNAs in the serum of OC patients have rarely been evaluated to date. We therefore sought to investigate serum circRNA profiles of OC patients, and to explore whether these sorts of circRNAs could be used to detect early OC, serving as biomarkers of disease that may allow for the earlier treatment thereof. Second-generation sequencing was used to screen differentially expressed circRNAs in OC patient serum and also in the serum obtained from healthy controls, and circRNA expression was confirmed by qPCR. A bioinformatics-based approach was then used to assess what biological functions might be affected be the altered regulation of these RNA molecules. We further conducted GO, KEGG, and network analyses to further explore the expression of circRNAs. We detected 178 differentially expressed circRNAs in OC patient serum, of which 175 were up-regulated and 3 were down-regulated. We validated 5 of these identified circRNAs by qPCR to confirm their expression, and further found these RNAs to be closely linked with FC gamma R-mediated phagocytosis, VEGF signaling, Transcriptional misregulation in cancer, Chemokine signaling, ErbB signaling, and TNF signaling based on conducted analyses. This study provides a profile of circRNAs in OC patient serum, revealing a pattern of dysregulation of these RNAs associated with OC. Our bioinformatics analysis suggested that these circRNAs are likely related to OC development, and as such they may be viable novel OC biomarkers.


Assuntos
Regulação Neoplásica da Expressão Gênica , Neoplasias Ovarianas/genética , RNA/sangue , Sítios de Ligação , Biomarcadores Tumorais/sangue , Biomarcadores Tumorais/genética , Estudos de Casos e Controles , Biologia Computacional/métodos , Receptores ErbB/genética , Receptores ErbB/metabolismo , Feminino , Perfilação da Expressão Gênica , Ontologia Genética , Redes Reguladoras de Genes , Humanos , RNA/genética , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Reprodutibilidade dos Testes , Regulação para Cima , Fator A de Crescimento do Endotélio Vascular/genética , Fator A de Crescimento do Endotélio Vascular/metabolismo
4.
Gene ; 724: 144153, 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31610221

RESUMO

As heroin and morphine produce reactive oxygen species and down-regulate several genes involved in cellular detoxification and DNA repair pathways, neurons experience DNA damage. Xeroderma pigmentosum complementation group C (XPC, OMIM: 613208) gene, which is expressed in the brain, is one of the central genes in the nucleotide excision repair pathway. Three common XPC polymorphisms (Lys939Gln, Ala499Val and PAT) are associated with reduced DNA repair capacity. In this study, the relationship between these polymorphisms and the risk of heroin dependency (HD), as well as, age of first use (AFU) for illegal drugs was investigated on 795 healthy individuals and 442 heroin dependent patients. Statistical analyses indicated that there was no significant association between the XPC polymorphisms and the risk of HD. The haplotypic frequencies of the polymorphisms showed significant difference between HD patients and healthy controls (χ2 = 16.38, df = 6, P = 0.012). Analysis indicated that the "Ala + Gln" haplotype increased the HD risk more than the "Ala + Lys" haplotype (OR = 4.21, 95% CI = 1.29-13.7, P = 0.017). In Cox proportional model, there was significant association between AFU and the Ala499Val polymorphism (Hazard ratio = 1.53, 95% CI: 1.02-2.92, P = 0.036). To investigate the effect of the linkage between the polymorphic sites, we compared the AFU among two common diplotypes ("Ala - Lys/Ala - Lys" and "Val - Lys/Val - Lys"). Statistical analysis indicated that AFU was significantly lower in "Val - Lys/Val - Lys" diplotype (t = 2.63, df = 49, P = 0.011). The present findings suggest that the XPC is a candidate polymorphic locus for AFU.


Assuntos
Proteínas de Ligação a DNA/genética , Dependência de Heroína/genética , Polimorfismo Genético , Adolescente , Adulto , Fatores Etários , Estudos de Casos e Controles , Feminino , Haplótipos , Humanos , Irã (Geográfico) , Estimativa de Kaplan-Meier , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
5.
Gene ; 724: 144156, 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31626960

RESUMO

Cadmium is a common environmental and occupational pollutant and can produce toxic effects in a range of organs, especially in kidneys, after long-term exposure. MicroRNAs are ideal candidate biomarkers for various types of disorders, including renal diseases. In this study, we profiled the global miRNA expressions in rat kidneys using miRNA microarrays and found a collection of differentially expressed miRNAs induced by cadmium exposure. Among all of the candidate miRNAs, we identified miR-122-5p and miR-326-3p as early biomarkers for cadmium-induced nephrotoxicity. The two-miRNA signature was validated by quantitative real-time PCR in HK-2 and NRK-52E cells, rat kidney, serum and urine samples, and serum of an occupational population. Our results indicate that miR-122-5p and miR-326-3p may be potential biomarkers for cadmium exposure.


Assuntos
Cádmio/toxicidade , Biomarcadores Ambientais/genética , Exposição Ambiental/análise , Rim/efeitos dos fármacos , MicroRNAs/análise , Adulto , Animais , Estudos de Casos e Controles , Poluentes Ambientais/toxicidade , Feminino , Humanos , Rim/metabolismo , Masculino , MicroRNAs/sangue , Exposição Ocupacional/análise , Ratos Sprague-Dawley , Reprodutibilidade dos Testes , Transcriptoma
6.
Gene ; 723: 144133, 2020 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-31589956

RESUMO

BACKGROUND AND AIM: Autism spectrum disorder (ASD) is one of the neurodevelopmental and cognitive conditions that involves 1 in 160 children around the world. Several studies showed that there is a relationship between vitamin D receptor (VDR) gene polymorphisms with the neurodevelopmental behavioral disorders. In the current study, we aimed to highlight the association of VDR gene polymorphisms (FokI and TaqI) with the risk of autism in Birjand population. MATERIAL AND METHODS: In this case-control study eighty-one patients recognized with ASD and one hundred-eight healthy controls were recruited to the study from 2017 to 2018. Genotyping was carried out by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) technique for all subjects. RESULTS: Calculated odds ratio and P-value for the alleles of VDR gene FokI and TaqI variants between autistic patients and controls did not show a significant difference (P > 0.05). However, calculated homozygous recessive (tt) for TaqI polymorphism was statistically significant (P = 0.015) in control group and there was also statistically meaningful difference in both case and control groups in ft haplotype (P = 0.04). CONCLUSION: These results provide preliminary evidence that genetic variants of the VDR gene (FokI and TaqI) might have a possible reduced risk of ASD occurrence in children. The additional examination is needed to acquire more decisive and precise results in this area.


Assuntos
Transtorno do Espectro Autista/genética , Polimorfismo de Fragmento de Restrição , Receptores de Calcitriol/genética , Adolescente , Transtorno do Espectro Autista/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Colecalciferol/sangue , Feminino , Estudos de Associação Genética , Testes Genéticos , Humanos , Irã (Geográfico) , Masculino
7.
Zhonghua Nei Ke Za Zhi ; 58(11): 814-818, 2019 Nov 01.
Artigo em Chinês | MEDLINE | ID: mdl-31665856

RESUMO

Objective: To investigate the clinical significance of transcranial Doppler (TCD) in early diagnosis of sepsis-associated encephalopathy(SAE). Methods: Septic patients admitted to the intensive care unit(ICU) were recruited at Xiangya Hospital, Central South University from July 2015 to March 2016. Clinical data and TCD parameters during 24 hours after admission were collected. All patients were screened for delirium using the confusion assessment method for the intensive care unit (CAM-ICU) twice a day. The gold standard of the diagnosis of SAE was positive CAM-ICU evaluation. Patients were divided into SAE group and the non-SAE group. TCD data including systolic velocity (Vs), diastolic velocity (Vd), mean velocity (Vm), pulsatility index (PI) and resistant index (RI) were analyzed to determine the optimal diagnostic cut-off value. Results: A total of 43 patients were enrolled including 12 in SAE group and 31 in non-SAE group. Vm and Vd were lower in SAE group [Vm: (53.50±12.22) cm/s vs. (61.68±9.63) cm/s, P<0.05; Vd: (33.42±10.87) cm/s vs. (43.16±7.84) cm/s, P<0.01] but PI and RI were significant higher in SAE group[PI:(1.16±0.2) vs. (0.90±0.15), P<0.01;RI:(0.65±0.08) vs. (0.56±0.06), P<0.01] than in non-SAE group. The cut-off values of Vs, Vm, Vd, PI and RI for the diagnosis of SAE were 112cm/s, 55.50cm/s, 34.50cm/s, 1.16, 0.65, respectively, with the relevant sensitivities of 19.4%, 83.9%, 93.5%, 58.3%, 58.3% and the specificities of 100.0%, 50.0%, 58.3%, 96.8%, 96.8%, respectively. The diagnostic AUC of Vd, PI and RI were 0.741, 0.808 and 0.808 respectively. Conclusions: The parameter changes of TCD suggest that the pathogenesis of SAE is related to cerebral hypoperfusion, TCD is a helpful method for the early diagnosis of SAE.


Assuntos
Circulação Cerebrovascular , Artéria Cerebral Média/diagnóstico por imagem , Encefalopatia Associada a Sepse/diagnóstico por imagem , Ultrassonografia Doppler Transcraniana/métodos , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Diagnóstico Precoce , Humanos , Unidades de Terapia Intensiva
8.
Chin J Physiol ; 62(5): 196-202, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31670283

RESUMO

The present study aimed to determine the association of adrenergic receptor beta-3 (ADRB3) rs4994 T>C and liver X receptor alpha (LXR-α) rs12221497 G>A polymorphism with metabolic syndrome (Met S) and the related traits in Pakistanis. Patients of Met S were recruited from the Endocrinology and Diabetic Clinic of Sheikh Zayed Hospital Lahore, over the time span of 6 months from July to December 2016. Single-nucleotide polymorphism (SNP) of ADRB3 was determined by restriction fragment length polymorphism and of LXR-α by amplification refractory mutation system polymerase chain reaction. The frequency of TT variant of ADRB3 T>C in Met S was 69 (34.5%) and in controls 89 (44.5%), frequency of TC 103 (51.5%) and 96 (48%), and of CC 28 (14%) and 15 (7.5%), respectively. In the recessive model (CC: TT + TC), CC genotype was found to be associated with the increased risk of Met S (P = 0.027; odds ratio [OR] = 2.09; confidence interval [CI] =1.08-4.03) and the association remained significant after controlling for the confounders such as age and sex. The frequency of GG variant of LXR-α G>A in Met S was 35 (17.5%) and in controls 15 (7.5%), GA 129 (64.5%) and 137 (68.5%), and AA 36 (18%) and 48 (24%), respectively. In the recessive model (GG: GA + AA), GG genotype was found to be associated with the increased risk of Met S (P = 0.004; OR = 2.52; CI = 1.33-4.80) and the association remained significant after controlling for the confounders such as age and sex. It was concluded that SNP of ADRB3 (190 T>C) and LXR-α (-115 G>A) were associated with the risk of Met S and might increase the susceptibility to the obesity-related traits.


Assuntos
Receptores X do Fígado/genética , Síndrome Metabólica , Receptores Adrenérgicos beta 3/genética , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Síndrome Metabólica/genética , Paquistão , Polimorfismo de Nucleotídeo Único
9.
Chin J Physiol ; 62(5): 210-216, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31670285

RESUMO

Matrix metalloproteinases-2 (MMP2) has been reported to be overexpressed in various types of cancer. However, the contribution of various genotypes of MMP2 to lung cancer is controversial and not yet been examined in Taiwan. Therefore, in the current study, we investigated the association of MMP2 genotypes with lung cancer risk among Taiwanese. In this hospital-based, case-control study, 358 lung cancer patients and 716 age- and gender-matched healthy controls were recruited, and the genotypic distributions of MMP2-1306 and MMP2- 735 were determined. Then, their association with lung cancer was evaluated, and their interaction with personal smoking status was also examined via stratification analysis. The results showed that the percentages of variant CT and TT at MMP2-1306 were 17.3% and 1.7% among the lung cancer patients, respectively, much lower than those of 28.7% and 2.4%, respectively, among the healthy controls (P for trend = 0.0001). The allelic frequency distribution analysis showed that the variant T allele at MMP2-1306 conferred a statistically significantly lower lung cancer risk than the wild-type C allele (adjusted odds ratio = 0.54, 95% confidence interval = 0.41-0.72, P = 0.0001). There was an obvious effect of MMP2-1306 genotype on lung cancer risk among the subpopulations of ever smokers but not nonsmokers. As for the genotypes of MMP2-735, there was no such differential distribution in the aspects of genotypic or allelic frequencies, or combinative effects with smoking status. The genotypes of MMP2-1306 may act as a biomarker in determining personal susceptibility to lung cancer in Taiwan. The contribution of MMP2 genotypes alone and its joint effects with personal cigarette smoking habit on lung cancer susceptibility should be taken into consideration of the clinical practices for early detection and prediction of lung cancer in Taiwan.


Assuntos
Predisposição Genética para Doença , Neoplasias Pulmonares , Metaloproteinase 2 da Matriz/genética , Estudos de Casos e Controles , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Taiwan
10.
Bone Joint J ; 101-B(11): 1423-1430, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31674240

RESUMO

AIMS: The aim of this study was to assess the functional gain achieved following hip resurfacing arthroplasty (HRA). PATIENTS AND METHODS: A total of 28 patients (23 male, five female; mean age, 56 years (25 to 73)) awaiting Birmingham HRA volunteered for this prospective gait study, with an age-matched control group of 26 healthy adults (16 male, ten female; mean age, 56 years (33 to 84)). The Oxford Hip Score (OHS) and gait analysis using an instrumented treadmill were used preoperatively and more than two years postoperatively to measure the functional change attributable to the intervention. RESULTS: The mean OHS improved significantly from 27 to 46 points (p < 0.001) at a mean of 29 months (12 to 60) after HRA. The mean metal ion levels at a mean 32 months (13 to 60) postoperatively were 1.71 (0.77 to 4.83) µg/l (ppb) and 1.77 (0.68 to 4.16) µg/l (ppb) for cobalt and chromium, respectively. When compared with healthy controls, preoperative patients overloaded the contralateral good hip, limping significantly. After HRA, patients walked at high speeds, with symmetrical gait, statistically indistinguishable from healthy controls over almost all characteristics. The control group could only be distinguished by an increased push-off force at higher speeds, which may reflect the operative approach. CONCLUSION: Patients undergoing HRA improved their preoperative gait pattern of a significant limp to a symmetrical gait at high speeds and on inclines, almost indistinguishable from normal controls. HRA with an approved device offers substantial functional gains, almost indistinguishable from healthy controls. Cite this article: Bone Joint J 2019;101-B:1423-1430.


Assuntos
Artroplastia de Quadril/métodos , Marcha/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Análise da Marcha/instrumentação , Análise da Marcha/métodos , Articulação do Quadril/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Quadril/fisiopatologia , Osteoartrite do Quadril/cirurgia , Medidas de Resultados Relatados pelo Paciente , Cuidados Pós-Operatórios/instrumentação , Cuidados Pós-Operatórios/métodos , Estudos Prospectivos , Radiografia , Velocidade de Caminhada/fisiologia
11.
Medicine (Baltimore) ; 98(44): e17806, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689863

RESUMO

Hypoalbuminemia and anemia are frequent among in patients with traumatic brain injury (TBI). We assess whether serum albumin and hemoglobin at admission can predict outcome in children with moderate to severe TBI.This retrospective study was conducted in a tertiary pediatric hospital between May 2012 and Jun 2018 included children with an admission Glasgow Coma Scale of ≤13.A total of 213 patients were included of whom 45 died in hospital. Multivariate logistic regression showed that hypoalbuminemia (serum albumin <30 g/L) was independently associated with mortality (adjusted odds ratio [OR] = 3.059; 95% confidence interval [CI]: 1.118-8.371; P = .030) in children with moderate to severe TBI, while anemia (hemoglobin <90 g/L) was not independently associated with mortality (adjusted OR = 1.742; 95% CI: 0.617-4.916; P = .295). Serum albumin was significantly superior to hemoglobin (area under the curve [AUC] 0.738 vs AUC 0.689, P < .05) under receiver operating characteristic curve analysis. Hypoalbuminemia was also associated with reduced 14-day ventilation-free days, 14-day intensive care unit (ICU)-free days, and 28-day hospital-free days.Serum albumin at admission was superior to hemoglobin in predicting the mortality in children with moderate to severe TBI and also associated with reduced ventilator-free, ICU-free, and hospital-free days.


Assuntos
Lesões Encefálicas Traumáticas/sangue , Lesões Encefálicas Traumáticas/mortalidade , Hemoglobina A Glicada/metabolismo , Mortalidade Hospitalar , Albumina Sérica/metabolismo , Anemia/complicações , Anemia/diagnóstico , Biomarcadores/sangue , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/terapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Cuidados Críticos , Feminino , Escala de Coma de Glasgow , Humanos , Hipoalbuminemia/complicações , Hipoalbuminemia/diagnóstico , Masculino , Valor Preditivo dos Testes , Respiração Artificial , Estudos Retrospectivos
12.
Medicine (Baltimore) ; 98(44): e17854, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689877

RESUMO

Breast cancer is the most common diagnosed malignancy in women. This study genotyped blood samples from 236 Han Chinese women with breast cancer and 128 healthy controls for single nucleotide polymorphisms (SNPs) rs2977537, rs2929970, rs2929973, rs2977530, and rs62514004, to determine whether these WNT1-inducible signaling pathway protein 1 (WISP-1) genetic polymorphisms increase the risk of developing breast cancer. Compared with wild-type (AA) carriers, those carrying the WISP1 rs62514004 AG or AG + GG genetic variants had a greater risk of developing breast cancer. In an evaluation of the association between clinicopathological aspects and the WISP1 SNP rs62514004 in the breast cancer cohort, patients with the GG genotype were less likely than those with the AA genotype to develop stage III/IV disease. Patients carrying the WISP1 rs2929973 GG + TT variant were almost twice as likely as those carrying the GT genotype to have estrogen receptor (ER)- and progesterone receptor (PR)-positive tumors, while those with the WISP1 rs62514004 AG + GG genetic variants were around twice as likely as those with the AA genotype to have HER2-positive tumors. This study details risk associations between WISP1 SNPs and breast cancer susceptibility in women of Han Chinese ethnicity.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Neoplasias da Mama/genética , Proteínas de Sinalização Intercelular CCN/genética , Polimorfismo de Nucleotídeo Único , Proteínas Proto-Oncogênicas/genética , Adulto , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Pessoa de Meia-Idade , Receptor ErbB-2/análise , Receptores Estrogênicos/análise , Receptores de Progesterona/análise , Fatores de Risco , Transdução de Sinais
13.
Medicine (Baltimore) ; 98(44): e17867, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689880

RESUMO

Glycogen storage disease (GSD) type IX, characterized by liver enlargement and elevated aminotransferase levels, is the most frequent type of GSD. The global incidence of GSD type IXa is only about 1/100,000 individuals. Case reports of GSD type IX are rare in China. We present the first case report of GSD type IXa in Northeast China caused by mutation of PHKA2.An 11-year-old boy was referred to our hospital because of liver enlargement with consistently elevated transaminase levels over 6 months.Histopathological results following an ultrasound-guided liver biopsy confirmed a diagnosis of GSD. Further genetic testing showed that the patient had GSD type IXa caused by the c.133C>T mutation in PHAK2.We placed the patient on a high-protein and high-starch diet and provided hepatoprotective and supportive therapy.The patient's transaminase levels decreased significantly and were nearly normal at 10-month follow-up.This is the first reported case of GSD type IXa in Northeast China. We hope that the detailed and complete report of this case will provide a reference for the diagnosis of liver enlargement of unknown etiology in future clinical practice.


Assuntos
Carcinoma Hepatocelular/virologia , Hepatite B Crônica/genética , Interleucinas/genética , Cirrose Hepática/virologia , Neoplasias Hepáticas/virologia , Polimorfismo de Nucleotídeo Único , Adulto , Consumo de Bebidas Alcoólicas/efeitos adversos , Grupo com Ancestrais do Continente Asiático/genética , Carcinoma Hepatocelular/genética , Estudos de Casos e Controles , Progressão da Doença , Feminino , Hepatite B Crônica/complicações , Humanos , Cirrose Hepática/genética , Neoplasias Hepáticas/genética , Masculino , Pessoa de Meia-Idade , Mutação Puntual , Estudos Retrospectivos , Fumar/efeitos adversos
14.
Medicine (Baltimore) ; 98(44): e17710, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689804

RESUMO

Tropomyosin 1 (TPM1) is a protein that constitutes the sarcomere filaments and is encoded by the TPM1 gene. The aim of the present study is to investigate the correlation between the 3' untranslated region (3'UTR) single nucleotide polymorphisms (SNPs) of the TPM1 gene and dilated cardiomyopathy (DCM).A total of 245 patients with DCM and 245 healthy controls were recruited with 5 ml of venous blood. Genomic DNA was extracted to analyze the TPM1 gene rs12148828, rs11558748, rs707602, rs6738, rs7178040 loci genotypes, and the plasma miR-21 level was analyzed by reverse transcription-PCR (RT-PCR).The risk of DCM development in the rs6738 locus G allele carriers were 1.69 times more than A allele carriers (95% CI: 1.22-2.33, P = .001). Age and gender had no effect on the association of TPM1 gene SNPs with DCM risk (P > .05). The plasma miR-21 level of TPM1 gene rs6738 locus AA carriers was significantly higher than that of the AG and GG genotypes (P < .001).The SNPs of TPM1 gene rs6738 locus is associated with the risk of DCM, which may be related to the abnormal increase of miR-21 level in DCM patients, but further research is needed to prove the causal relationship between miR-21 level and DCM risk.


Assuntos
Regiões 3' não Traduzidas/genética , Cardiomiopatia Dilatada/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Tropomiosina/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Cardiomiopatia Dilatada/sangue , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , MicroRNAs/sangue , Pessoa de Meia-Idade , Fatores de Risco
15.
Medicine (Baltimore) ; 98(44): e17724, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689812

RESUMO

To investigate the effect of combined periodontal-orthodontic treatment on the gingival crevicular fluid (GCF) levels of high mobility group box-1 (HMGB1) and NOD-like receptor protein 3 (NLRP3) in chronic periodontitis.A total of 60 patients with periodontitis who received combined periodontal-orthodontic treatment and 32 healthy individuals as normal controls were recruited in this study. Periodontal parameters were recorded. Enzyme-linked immunosorbent assay (ELISA) was used to examine GCF levels of HMGB1 and NLRP3.The periodontal parameters and GCF levels of HMGB1 and NLRP3 in periodontitis patients were significantly higher before treatment, and observably decreased after 6 months of treatment as compared with the healthy group. However, significant positive correlations were observed between HMGB1, NLRP3, and periodontal parameters in chronic periodontitis patients.Patients with chronic periodontitis showed higher levels of HMGB1 and NLRP3 in GCF.


Assuntos
Periodontite Crônica/genética , Periodontite Crônica/terapia , Proteína HMGB1/metabolismo , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Ortodontia/métodos , Periodontia/métodos , Adulto , Estudos de Casos e Controles , Doença Crônica , Terapia Combinada , Feminino , Líquido do Sulco Gengival/química , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
16.
Medicine (Baltimore) ; 98(44): e17736, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689819

RESUMO

To explore associated risk factors and their interactions with type 2 diabetes (T2DM) among the elderly with prediabetes in rural areas in China.A nested case-control study was conducted in a fixed cohort to identify the risk factors for T2DM among the elderly with prediabetes in rural areas of Yiyang City in China. A total of 37 elderly with T2DM were included in the cases group and 111 elderly subjects with prediabetes were matched in the control group. Data related to sociodemographic characteristics, lifestyle behavior, and anthropometric variables were collected by trained staff using standard tools. The risk factors for T2DM were determined using conditional logistic regression analysis, and their additive interactions were also explored.Multivariable conditional logistic regression analysis results showed that overweight/obesity (odds ratio [OR] = 4.80, 95% confidence interval [CI]: 1.20-12.28), family history of diabetes (OR = 3.63, 95% CI: 1.03-12.81), physically inactive (OR = 3.08, 95% CI: 1.14-8.30), high waist-to-hip ratio (WHR) (OR = 3.15, 95% CI: 1.27-7.80), and inadequate diabetes-specific health literacy (DSHL) (OR = 3.92, 95% CI: 1.14-13.48) increased the risk for T2DM. Additive interactions for T2DM were observed between a family history of diabetes and high WHR with a relative excess risk of interaction (RERI) of 10.02 (95% CI: 4.25, 15.78), and between high WHR and overweight or obesity, with an RERI of 3.90 (95% CI: 0.36, 7.44).The independent risk factors for T2DM are overweight or obesity, high WHR, family history of diabetes, physically inactive, and inadequate DSHL. High WHR as a risk factor for T2DM has additive interactions with family history of diabetes and overweight or obesity.


Assuntos
Diabetes Mellitus Tipo 2/etiologia , Estado Pré-Diabético/etiologia , População Rural/estatística & dados numéricos , Idoso , Antropometria , Estudos de Casos e Controles , China/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/fisiopatologia , Exercício , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estado Pré-Diabético/epidemiologia , Estado Pré-Diabético/fisiopatologia , Risco , Fatores de Risco , Comportamento Sedentário , Relação Cintura-Quadril
17.
Medicine (Baltimore) ; 98(44): e17744, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689826

RESUMO

Congenital syphilis (CS) can cause serious impact on the fetus. However, congenital syphilis presenting as sepsis is a critical condition but hardly identified by the clinic for the first time. In this study, we aimed to identify the benefit of earlier and accurate diagnosis for the infants who suffer congenital syphilis presenting as sepsis.A retrospective study was performed with patients diagnosed of congenital syphilis presenting as sepsis who were the inpatients in the West China Second Hospital between 2011 and 2018. The control group was collected in the neonatal sepsis patients whose blood culture are positive.Fifty-eight patients were included in the study. In the congenital syphilis group, one patient died and 12 (41.3%) patients get worse to MODS (multiple organ dysfunction syndrome). Symptoms, signs, and lab examinations are found to be significantly different (P < .05) between two groups as below, including rash, palmoplantar desquamation, abdominal distension, splenomegaly, hepatomegaly, etc. And, at the aspect of Hb, PLT, WBC, CRP, ALT, AST, these differences occurred in the different groups. It is obvious that the prognosis of children with syphilis is worse. According to a comparison between the different outcomes in the CS, the worse outcome subgroup of patients is significantly younger and have more severely impaired liver function.Because of the high mortality of these infants, pediatricians should improve awareness of CS. Syphilis screening is recommended for pregnant women.


Assuntos
Sepse Neonatal/diagnóstico , Complicações Infecciosas na Gravidez/diagnóstico , Sepse/diagnóstico , Sífilis Congênita/diagnóstico , Sífilis/diagnóstico , Estudos de Casos e Controles , China , Diagnóstico Diferencial , Diagnóstico Precoce , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Insuficiência de Múltiplos Órgãos/diagnóstico , Insuficiência de Múltiplos Órgãos/microbiologia , Insuficiência de Múltiplos Órgãos/mortalidade , Sepse Neonatal/microbiologia , Sepse Neonatal/mortalidade , Gravidez , Complicações Infecciosas na Gravidez/microbiologia , Complicações Infecciosas na Gravidez/mortalidade , Estudos Retrospectivos , Sepse/microbiologia , Sepse/mortalidade , Sífilis/microbiologia , Sífilis/mortalidade , Sorodiagnóstico da Sífilis , Sífilis Congênita/mortalidade
18.
Medicine (Baltimore) ; 98(44): e17758, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689834

RESUMO

The process for blood donation is considered safe, but some adverse events have been reported. Risk factors for adverse events were assessed in this study.A retrospective case-control study was conducted to investigate the risk factors for adverse events after blood donation between 2010 and 2013. Variables such as gender, age, body mass index (BMI), donation status, donation volume, donation site, pre-donation systolic blood pressure (SBP), and pre-donation diastolic blood pressure were compared between donors with and without adverse events. Multiple logistic regression analysis was performed to assess the joint effects of age, gender, and donation status on adverse events.The incidence of adverse events among adult blood donations was 1287/1,253,678 (0.1%). On multivariate logistic regression analysis, blood donors aged <35 years (odds ratio [OR], 2.99, 95% confidence interval [CI], 2.57-3.48), of female gender (OR, 3.30, 95% CI, 2.62-4.15), and with first-time donor status (OR, 6.40, 95% CI, 5.17-7.93), donation of 500 mL (OR, 2.22, 95% CI, 1.83-2.69), predonation SBP <124 mm Hg (OR, 1.25, 95% CI,1.05-1.48) and BMI <24 kg/m (OR, 1.67, 95% CI, 1.42-1.96) were associated with increased likelihood of adverse event. Further analysis with joint effects method revealed that first-time female donors aged <35 years are associated with the highest odds of adverse events when compared with repeat male donors aged ≧35 years (OR, 100.57, 95% CI, 48.45-208.75).The findings of our study should prove useful in identifying donors at risk and planning appropriate strategies for the prevention of adverse effects.


Assuntos
Remoção de Componentes Sanguíneos/efeitos adversos , Doadores de Sangue/estatística & dados numéricos , Adulto , Idoso , Pressão Sanguínea , Índice de Massa Corporal , Estudos de Casos e Controles , Feminino , Humanos , Incidência , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
19.
Anticancer Res ; 39(11): 6317-6324, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31704862

RESUMO

BACKGROUND/AIM: The aim of this study was to evaluate N-acetylgalactosamine-6-sulfatase (GALNS) as a new biomarker candidate for detecting lung cancer. Glycodelin or PAEP, the serum levels of which are known to be elevated in lung and other cancers, served as a benchmark for comparison. PATIENTS AND METHODS: A total of 170 serum samples from healthy controls and patients with pneumonia, lung cancer, breast cancer, colon cancer, liver cancer, and head and neck cancer were analyzed for the levels of GALNS and PAEP by ELISA. RESULTS: The median serum levels of GALNS and PAEP in all cancer types as well as pneumonia patients were significantly higher than those of the healthy controls. CONCLUSION: In addition to previously known cancers, the median serum levels of PAEP were also found to be higher in liver and head and neck cancer patients. GALNS and PAEP are promising general biomarkers for multiple cancers and deserve further evaluation.


Assuntos
Biomarcadores Tumorais/sangue , Condroitina Sulfatases/sangue , Glicodelina/sangue , Neoplasias Pulmonares/sangue , Área Sob a Curva , Benchmarking , Neoplasias da Mama/sangue , Estudos de Casos e Controles , Linhagem Celular Tumoral , Neoplasias do Colo/sangue , Ensaio de Imunoadsorção Enzimática , Feminino , Neoplasias de Cabeça e Pescoço/sangue , Humanos , Neoplasias Hepáticas/sangue , Pulmão/metabolismo , Neoplasias Pulmonares/diagnóstico , Masculino , Pneumonia/sangue
20.
Anticancer Res ; 39(11): 6365-6372, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31704869

RESUMO

BACKGROUND/AIM: Although few studies have shown the effectiveness of adjuvant therapy with acridine orange (AO) for soft tissue sarcoma (STS) patients, no study has investigated this among cases with marginal resection. The aim of the study was to evaluate the effectiveness of AO therapy directly by comparing it to marginal resection cases that did not receive AO. PATIENTS AND METHODS: This retrospective study included 19 and 33 patients with STS who received AO therapy (AO group) and marginal resection without AO therapy (non-AO group), respectively. The patients' clinical information was collected, and the clinical courses were compared. RESULTS: The local recurrence rate in the AO group was significantly lower than that in the non-AO group (p<0.05). The local recurrence-free survival curves significantly differed between the two groups (p<0.05). High grade malignancy and no treatment with AO were identified as risk factors for local recurrence (p<0.05). CONCLUSION: AO therapy strongly suppressed local recurrence after marginal resection of STS.


Assuntos
Laranja Acridina/uso terapêutico , Corantes Fluorescentes/uso terapêutico , Margens de Excisão , Recidiva Local de Neoplasia , Sarcoma/tratamento farmacológico , Sarcoma/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos , Estudos de Casos e Controles , Terapia Combinada/métodos , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/prevenção & controle , Estudos Retrospectivos , Sarcoma/patologia
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