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3.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 49(5): 808-811, 2018 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-30378347

RESUMO

OBJECTIVE: To understand the etiology, clinical prognosis and risk factors of adult community-acquired acute bacterial meningitis (ABM) and provide the evidence for clinical diagnosis and treatment. METHODS: We performed a retrospective study of 181 clinically diagnosed hospitalized patients with community-acquired adult ABM from Jan.2010 to Jan.2018. The patients were categorized as non-elderly (16≤age<65 years old, n=156 ) and elderly (age≥65 years old, n=25) group. The etiology, clinical features, prognosis and risk factors of the two groups were compared. RESULTS: Sixty-four of 181 patients (35.4%) had pathogens detected. The most common pathogens were Streptococcus pneumoniae (17.9%), Listeria monocytogenes (13.4%) and Klebsiella pneumoniae (10.5%). The mortality of the elderly group was higher than that of the non-elderly group (P<0.05). Univariate analysis showed that there was a significant difference between the elderly group and the non-elderly group in the incidence of hypertension, hypokalemia, pulmonary infection, ear-nose-throat ( ENT) infection, cerebrospinal fluid (CSF) protein concentration, head CT abnormalities and mortality. Logistic regression analysis showed that pulmonary infection and temperature ≥38.5 ℃ were independent risk factors for poor prognosis in the non-elderly group. CSF pressure ≥200 mmH2O was a independent risk factors for poor prognosis in the elderly group. CONCLUSION: The pathogens that cause acute bacterial meningitis in adult community are mainly Streptococcus pneumoniae, Listeria monocytogenes and Klebsiella pneumoniae.Pulmonary infection and temperature ≥38.5 ℃ are independent risk factors of poor prognosis in the non-elderly patients, as CSF pressure ≥200 mmH2O a independent risk factor in the elderly patients.


Assuntos
Infecções Comunitárias Adquiridas/diagnóstico , Meningites Bacterianas/diagnóstico , Adolescente , Adulto , Idoso , Infecções Comunitárias Adquiridas/etiologia , Humanos , Klebsiella pneumoniae , Listeria monocytogenes , Meningites Bacterianas/etiologia , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Streptococcus pneumoniae , Adulto Jovem
4.
Ann Clin Lab Sci ; 48(6): 782-784, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30610050

RESUMO

Hemoglobin H (Hb H) disease is usually characterized by the existence of Hb H, which influences the degree of functional anemia. We here report a patient with a rare Hb H disease genotype (-SEA/-α27.6), who was observed to paradoxically have no detectable Hb H fraction on electrophoresis. To date, the reason why the quantity of Hb H component and the clinical presentation in Hb H disease vary widely is still incompletely understood. Our report demonstrates a possible explanation - the different degradation ability of excess ß-globin chains, which might be regulated by the 27.6 kb sequence of α-globin gene.


Assuntos
Mutação/genética , alfa-Globinas/genética , Talassemia alfa/genética , Genótipo , Humanos , Lactente , Masculino , Fenótipo
5.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(6): 920-925, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-28598125

RESUMO

OBJECTIVES: To determine the correlation between gene polymorphisms in Wnt signal pathway and susceptibility of Chinese Tibetan people to tuberculosis. METHODS: A total of 488 active tuberculosis patients and 454 healthy subjects(control) were enrolled in this case-control study.Five single nucleotide polymorphisms (SNPs) in Wnt signal pathway (rs4135385 in CTNNB1 gene,rs11001553 in DKK1 gene,rs56900803 in WIF1 gene,rs7832767 in SFRP1 gene and rs11079571 in AXIN2 gene) were genotyped using MassARRAY method.The genotype and allele distributions of these loci were determined using SPSS19.0 and SNP stats software.Significant SNPs were measured in the co-dominant,dominant and recessive genetic models.The polymorphism distributions of Chinese Tibetans were compared with those of Chinese Han populations. RESULTS: The genotype distributions of all SNPs coincided with the Hardy-Weinberg equilibrium in the 2 groups.The frequencies of genotype and allele of rs7832767 in SFRP1 gene were significantly different (P=0.004,0.002,respectively) between the Tibetan patients with tuberculosis and the Tibetan healthy controls.Compared with C allele carriers,those carrying T allele of rs7832767 showed increased risk of tuberculosis [odds ratio (OR)=1.260,95% confidence interval (CI):1.086-1.471,P=0.002].The co-dominant,dominant and recessive models of this locus were also associated with higher risk of tuberculosis.No significant differences in genotype and allele distributions were observed for the other four SNP loci (P all>0.05).The distribution of rs4135385 in CTNNB1 gene in the Chinese Tibetan population differed from the Han population (P=0.035 for genotype,0.021 for allele).There were no obvious differences in genotype and allele distributions for the other four SNPs between the Tibetan and Han populations (P all >0.05). CONCLUSIONS: SFRP1 gene polymorphism in Wnt signal pathway is associated with tuberculosis susceptibility in Chinese Tibetan population.The distribution of CTNNB1 gene polymorphism differs between Chinese Tibetan and Han populations.


Assuntos
Polimorfismo de Nucleotídeo Único , Tuberculose/genética , Via de Sinalização Wnt/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Proteína Axina/genética , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas Repressoras/genética , Tibet , beta Catenina/genética
6.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 47(6): 936-940, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-28598128

RESUMO

OBJECTIVES: To investigate the molecular features of spinal muscular atrophy (SMA) related genes in SMA patients of Han nationality of southwest of China. METHODS: We collected 62 unrelated patients of SMA and 50 unrelated healthy individuals in this study.The copy numbers of survival motor neuron gene (SMN) and uronal-apoptosis inhibitory protein gene (NAIP) were measured by using multiplex ligation-dependent probe amplification (MLPA). RESULTS: Of 62 patients,the copy number of SMA1-4 were 30.65% (19/62),41.94%(26/62),16.13% (10/62),11.29% (7/62),respectively.The deletion of SMN1 exon 7 accounts for 98.38% (61/62).The deletion of SMN1 exon 8 accounts for 82.26% (51/62).Among SMA 1 patients,the homozygous deletion of NAIP exon 5 accounts for 68.42% (13/19) and heterzygous deletion accounts for 26.32% (5/19).Among SMA2-4patients,the homozygous deletion of NAIP exon 5 accounts for 13.95% (6/43) and heterzygous deletion accounts for 62.79% (27/43).Furthermore,68.42% (13/19) patients of SMA1have 1 copy and 2 copies of SMN2 gene,84.62% (22/26) patients of SMA 2 have more than 2 copies of SMN2 gene,90.00% (9/10) SMA3 and 85.71% (6/7) SMA4 have over 2 copies of SMN2 gene and even have 5 and 6 copy of SMN2 gene. CONCLUSIONS: The deletion of SMN1 gene is the main cause of SMA,and the change of SMN2 and NAIP copy number can affect the severity of SMA.


Assuntos
Atrofia Muscular Espinal/genética , Proteína Inibidora de Apoptose Neuronal/genética , Proteína 1 de Sobrevivência do Neurônio Motor/genética , China , Grupos Étnicos , Éxons , Deleção de Genes , Dosagem de Genes , Humanos , Proteínas de Ligação a RNA
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