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1.
Diagnostics (Basel) ; 12(12)2022 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-36553178

RESUMO

This review article focuses on the use of breath tests in the field of bariatrics and obesitology. The first part of the review is an introduction to breath test problematics with a focus on their use in bariatrics. The second part provides a brief history of breath testing. Part three describes how breath tests are used for monitoring certain processes in various organs and various substances in exhaled air and how the results are analyzed and evaluated. The last part covers studies that described the use of breath tests for monitoring patients that underwent bariatric treatments. Although the number of relevant studies is small, this review could promote the future use of breath testing in the context of bariatric treatments.

2.
Toxicol Res (Camb) ; 11(5): 711-717, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36337249

RESUMO

A narrative review of the literature was conducted to determine if the administration of methylene blue (MB) in humans has potential risks. Studies were identified from MEDLINE, Web of Science, Scopus, and Cochrane. MB is a diagnostic substance used during some diagnostic procedures and also a part of the treatment of several diseases including methemoglobinemia, vasoplegic syndrome, fosfamide-induced encephalopathy, and cyanide intoxication, and the detection of leaks or position of parathyroid corpuscles during surgery. Although the use of MB is historically justified, and it ought to be safe, because it originated as a diagnostic material, the basic toxicological characteristics of this substance are unknown. Despite reports of severe adverse effects of MB, which could significantly exceed any possible benefits evaluated for the given indication. Therefore, the clinical use of MB currently represents a controversial problem given the heterogeneity of available data and the lack of preclinical data. This is in conflict with standards of safe use of such substances in human medicinal practice. The toxic effects of the application of MB are dose-dependent and include serious symptoms such as hemolysis, methemoglobinemia, nausea and vomitus, chest pain, dyspnoea, and hypertension. Some countries regard MB as harmful because of the resulting skin irritation and triggering of an adverse inflammatory response. MB induced serotoninergic toxicity clinically manifests as neuromuscular hyperactivity. This review aims to summarize the current understanding concerning the indications for MB administration and define the potential adverse effects of MB.

3.
BMC Nephrol ; 23(1): 111, 2022 03 19.
Artigo em Inglês | MEDLINE | ID: mdl-35305556

RESUMO

BACKGROUND: Through regulation of signaling pathways, microRNAs (miRNAs) can be involved in sepsis and associated organ dysfunction. The aims of this study were to track the 7-day time course of blood miRNAs in patients with sepsis treated with vancomycin, gentamicin, or a non-nephrotoxic antibiotic and miRNA associations with neutrophil gelatinase-associated lipokalin (NGAL), creatinine, procalcitonin, interleukin-6, and acute kidney injury (AKI) stage. METHODS: Of 46 adult patients, 7 were on vancomycin, 20 on gentamicin, and 19 on another antibiotic. Blood samples were collected on days 1, 4, and 7 of treatment, and miRNAs were identified using quantitative reverse transcription PCR. RESULTS: The results showed no relationship between miRNA levels and biochemical variables on day 1. By day 7 of gentamicin treatment miR-15a-5p provided good discrimination between AKI and non-AKI (area under curve, 0.828). In patients taking vancomycin, miR-155-5p and miR-192-5p positively correlated with creatinine and NGAL values, and miR-192-5p and miR-423-5p positively correlated with procalcitonin and interleukin-6 in patients treated with a non-nephrotoxic antibiotic. In patients together we found positive correlation between miR-155-5p and miR-423-5p and all biochemical markers. CONCLUSION: The results suggest that these four miRNAs may serve as diagnostic or therapeutic tool in sepsis, renal injury and nephrotoxic treatment. TRIAL REGISTRATION: ClinicalTrials.gov , ID: NCT04991376 . Registered on 27 July 2021.


Assuntos
Injúria Renal Aguda , MicroRNA Circulante , MicroRNAs , Sepse , Injúria Renal Aguda/complicações , Adulto , Antibacterianos/uso terapêutico , Creatinina , Feminino , Gentamicinas , Humanos , Interleucina-6/metabolismo , Lipocalina-2 , Masculino , MicroRNAs/genética , Pró-Calcitonina , Sepse/complicações , Vancomicina/uso terapêutico
4.
Artigo em Inglês | MEDLINE | ID: mdl-33899825

RESUMO

AIMS: The study aims were to verify the serum (S) and synovial fluid (SF) reference intervals (RIs) for human neutrophil defensins (HNP1-3); measure S and SF defensin concentrations in different types of SF, including non-inflammatory, inflammatory non-pyogenic, inflammatory pyogenic, and hemorrhagic; and to compare the HNP1-3 concentrations in SF and S with those of other inflammatory biomarkers. METHODS: SF and S samples were collected from 92 patients. HNP1-3 concentrations were determined using enzyme-linked immunosorbent assays; glucose, lactate, interleukin-6, and procalcitonin using an automatic analyzer; and presepsin using a Pathfast system. There were 61 non-inflammatory, 11 inflammatory non-pyogenic, 11 inflammatory pyogenic, and 9 hemorrhagic SF. Non-inflammatory SF was divided into non-inflammatory normal and non-inflammatory osteoarthritis. The former was used to estimate the HNP1-3 RI in SF and S. RESULTS: The estimated HNP1-3 RIs of SF and S were 12.47-437.42 mg/L and 5.45-44.75 µg/L, respectively. HNP1-3 differed significantly between S and SF and individual groups of SF (P<0.001 and P=0.001, respectively). There were significant relationships between SF HNP1-3 and S HNP1-3 (P<0.001), S C-reactive protein (P<0.001), and S interleukin-6 (P=0.007), and between SF HNP1-3 and SF C-reactive protein (P=0.004) and SF interleukin-6 (P<0.001). The highest kappa coefficient was between SF HNP1-3 and SF interleukin-6 (κ=0.507). CONCLUSIONS: We validated the SF HNP1-3 diagnostic kit and demonstrated that SF and S HNP1-3 are promising biomarkers for distinguishing inflammatory from non-inflammatory joint diseases.


Assuntos
Ensaio de Imunoadsorção Enzimática , alfa-Defensinas , Biomarcadores , Proteína C-Reativa , Humanos , Interleucina-6 , Receptores de Lipopolissacarídeos , Fragmentos de Peptídeos , Líquido Sinovial
5.
Ceska Gynekol ; 86(1): 11-15, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33752403

RESUMO

OBJECTIVE: The aim of this study was to compare TFF3, AIF-1, S100-A11 and DKK1 serum levels in patients with cervical dysplasia, and in healthy female controls. METHODS: The first group included 59 patients with a histological dia-gnosis of precancerous disease CIN 1. The second group included 198 patients with a histological dia-gnosis of precancerous disease CIN 2 or CIN 3. The control group was comprised of 90 patients who underwent elective total hysterectomy for nonmalignant disorders. In all patients, preoperative serum samples were taken and separated; the sera were all stored at -80°C until the analysis for TFF3, AIF-1, S100-A11 and DKK1. RESULTS: The serum levels of S100­A11 (P < 0.0001) and AIF-1 (P < 0.0001) were statistically significantly higher in patients with mild precancerous lesions (CIN 1) than in controls. The levels of TFF3 and DKK1 were not statistically significantly different in patients with CIN 1 and in the control group. The serum levels of S100­A11 (P < 0.0001) and AIF-1 (P < 0.0001) were statistically significantly higher in patients with severe precancerous lesions (CIN 2/3) than in controls. TFF3 and DKK1 levels were not statistically significantly different in patients with CIN 2/3 compared to controls. CONCLUSION: S100-A11 and AIF-1 represent potential bio-markers in patients with cervical dysplasia.


Assuntos
Lesões Pré-Cancerosas , Displasia do Colo do Útero , Neoplasias do Colo do Útero , Biomarcadores , Feminino , Humanos
6.
Ceska Gynekol ; 86(1): 17-21, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33752404

RESUMO

OBJECTIVE: The aim of this study was to compare the serum levels of TFF3, AIF-1, S100-A11 and DKK1 in surgically staged patients with cervical cancer, and in healthy female controls. METHODS: In total 85 consecutive patients dia-gnosed at the Department of Obstetrics and Gynecology, University Hospital in Olomouc with cervical cancer undergoing radical hysterectomy or fertility sparing surgery with pelvic lymphadenectomy were included. Ninety patients who underwent elective total hysterectomy for nonmalignant disorder represented a control group. In all patients, preoperative serum samples were taken and separated; the sera were all stored at -80 °C until analysis for TFF3, AIF-1, S100-A11 and DKK1. RESULTS: According to the final histopathological examination, 32 (40.5%) out of 79 cervical cancer patients with microscopically examined lymph nodes were lymph node-positive. S100­A11 (P < 0.0001) and AIF-1 levels (P < 0.0001) were higher in cervical cancer patients than in controls. Furthermore, the serum levels of S100­A11 (P > 0.04) and AIF-1 (P > 0.01) were significantly higher in lymph node-positive patients as compared to lymph node-negative patients. The levels of TFF3 and DKK1 were higher (P < 0.0001) in controls than in cervical cancer patients and were not different in groups with or without nodal involvement.. CONCLUSION: S100-A11 and AIF-1 represent potential bio-markers in patients with cervical cancer. Moreover, the levels of S100-A11 and AIF-1 increase in patients with lymph node  involvement.


Assuntos
Neoplasias do Colo do Útero , Feminino , Humanos , Histerectomia , Excisão de Linfonodo , Linfonodos/patologia , Metástase Linfática , Estadiamento de Neoplasias , Estudos Retrospectivos , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/cirurgia
7.
Artigo em Inglês | MEDLINE | ID: mdl-32495751

RESUMO

OBJECTIVES: Adipose tissue produces a number of adipokines that have metabolic effect. Visfatin is a recently discovered adipokine whose concentration in plasma increases in obesity. It is also a proinflammatory mediator that promotes atherosclerosis and plays a role in plaque destabilization. The aim of this study was to evaluate an assay for the determination of visfatin in human plasma and to investigate its clinical relevance as a marker of acute coronary syndrome (ACS) in a young population (Men under 45 y, Women under 55 y). DESIGN AND METHODS: We clinically tested a sandwich ELISA assay in young individuals with acute myocardial infarction (n=36) vs. a control group (n=21). The control sample was a healthy proband without inflammation, hepatic or renal injury and under 55 years of age. RESULTS: Visfatin in plasma was able to differentiate the control group from young patients with acute myocardial infarction (5 vs. 27 ng/L). Visfatin in the plasma of acute myocardial infarction (AMI) probands, correlated in individuals with acute coronary syndrome was related to plasma glucose (r=0.47; P=0.01), type 2 diabetes mellitus (r=0.65; P=0.01), plasma creatinine concentration (r=0.3, P=0.02), hsCRP (r=0.29; P=0.03), BMI values (r=0.18; P=0.04), triglycerides (r=0.5; P=0.01) and NT-proBNP (r=0.21; P=0.04). In healthy subjects, these relations were not found. ROC analysis: visfatin cut-off concentration was 20 ng/L with a sensitivity of 84% and a specificity of 90%. The area under the curve (AUC) of cTNI was 0.96, the AUC of visfatin was 0.96. Thus, there was no difference. CONCLUSION: We conclude that visfatin in serum may be a new independent potential marker of AMI.


Assuntos
Adipocinas/sangue , Biomarcadores/sangue , Citocinas/sangue , Infarto do Miocárdio/sangue , Infarto do Miocárdio/fisiopatologia , Nicotinamida Fosforribosiltransferase/sangue , Adipocinas/metabolismo , Adulto , Biomarcadores/metabolismo , Citocinas/metabolismo , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nicotinamida Fosforribosiltransferase/metabolismo
8.
Artigo em Inglês | MEDLINE | ID: mdl-30559492

RESUMO

BACKGROUND: MicroRNAs (miRNAs) are new generation biomarkers used in oncology, cardiology, metabolic syndrome, obesity or in neurology. miRNAs are short non-coding RNA molecules that regulate gene expression in eukaryotes. AIM: To compare a new commercial method for establishing miRNA (imunoassay) with a commercial kit RT qPCR. METHODS: RNA was isolated from whole blood samples obtained from four healthy volunteers. The isolates were liquated and miRNA-93-5p and miRNA-23a-3p were measured independently with commercial hsa-miR-93-5p miREIA and hsa-miR-23a-3p miREIA, and commercial RT-qPCR kits. RESULTS: Both miRNAs had good analytical characteristics, very good correlation with RT qPCR. The results between immunoassay and RT qPCR did not statistically differ. A method based on ELISA was faster (2 h with ELISA vs. 3 h with qPCR) and had lower CV then a method based on RT qPCR (see more text). CONCLUSION: MicroRNAs from blood or derived fractions are particularly interesting candidates for routine laboratory applications. The immunoassay can be performed on any device that processes the ELISA plates and is therefore available in almost every laboratory.


Assuntos
Ensaio de Imunoadsorção Enzimática/métodos , MicroRNAs/sangue , Kit de Reagentes para Diagnóstico , Reação em Cadeia da Polimerase em Tempo Real/métodos , Biomarcadores/sangue , Perfilação da Expressão Gênica , Voluntários Saudáveis , Humanos , MicroRNAs/genética , Projetos Piloto , Reprodutibilidade dos Testes
9.
Vnitr Lek ; 64(4): 343-346, 2018.
Artigo em Tcheco | MEDLINE | ID: mdl-29791169

RESUMO

INTRODUCTION: Epicardial fat (EPI) plays important role in development of metabolic and cardiovascular diseases. According to population studies EPI represents independent risk factor of cardiovascular diseases (CVD) and also for neoplasms. Osteoprotegerin (OPG) is a glycoprotein which have role in regulation of immune and cardiovascular systems. High serum levels of OPG are connected with high cardiovascular risk. The aim of our study was to evaluate possible correlation between EPI and OPG level in asymptomatic relatives of patients with CVD. MATERIAL AND METHODS: 53 asymptomatic relatives (37 male) (median age 53 years) of patients with CVD (ischemic heart disease, cerebrovascular disease) were included. Physical examination and biochemistry analysis were performed. GE Vivid 7 (GE Medical) was used for echocardiography. EPI was measured according to guidelines using parasternal long axis in diastole as a space in front of right ventricle. RESULTS: EPI was present in 46 subjects (86.8 %) with mean value of 2.91 mm. In 10 subjects was the amount of EPI > 5 mm. Spearmann correlation analysis found statistically significant correlation between EPI and OPG (r = 0.271; p = 0.05) and age (r = 0.500; p < 0.0001). We have not found correlation between EPI, glycaemia and level of insulin, glycated Hb, total, LDL, HDL cholesterol and triglycerides. CONCLUSION: We have found positive correlation between EPI and OPG. More studies are needed to confirm applicability of this correlation in risk stratification.Key words: cardiovascular risk - epicardial fat - osteoprotegerin.


Assuntos
Tecido Adiposo , Doenças Cardiovasculares , Osteoprotegerina , Pericárdio , Tecido Adiposo/metabolismo , Biomarcadores , Doenças Cardiovasculares/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Osteoprotegerina/metabolismo , Projetos Piloto , Fatores de Risco
10.
J Med Screen ; 25(3): 114-118, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29575979

RESUMO

OBJECTIVE: In the Czech Republic, over 97% of all pregnant women undergo some type of antenatal screening for Down's syndrome. In about 95% of cases with a confirmed fetal chromosomal abnormality, the pregnancy is terminated. The most commonly used test is the first trimester combined test. We investigated the impact of implementing an integrated sequential test to improve the detection of Down's syndrome pregnancies. METHODS: Data on the incidence of congenital defects, number of births, and affected pregnancies terminated are recorded in the National Registry of Congenital Anomalies. Anonymous data on cases of Down's syndrome diagnosed antenatally or postnatally between 2010 and 2015 in one of the large antenatal care centers were analyzed. RESULTS: There were 600 diagnoses of Down's syndrome (5.7 per 1000 births), 90% of which were made antenatally. Of antenatally detected cases, 80% were indicated for diagnostic procedure by multimarker screening results. In the multimarker screen positive group, 75% cases were first trimester positive and 25% second trimester positive (most of these had positive integrated test results). Among Down's syndrome cases indicated for antenatal diagnosis by multimarker screening results 6.25% (n = 26) were first trimester negative, and became positive after integration with the second trimester screening results. CONCLUSIONS: Results from five major Czech antenatal centers confirm that an integrated sequential test would detect 80-85% of Down's syndrome fetuses in the first trimester and at least an extra 5-10% of Down's syndrome pregnancies in the second trimester of pregnancy. These are important data that should be considered in implementing the national antenatal screening program.


Assuntos
Síndrome de Down/diagnóstico , Programas de Rastreamento/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Algoritmos , Sistema Livre de Células , Gonadotropina Coriônica Humana Subunidade beta/sangue , República Tcheca , Tomada de Decisões , Reações Falso-Positivas , Feminino , Humanos , Idade Materna , Medição da Translucência Nucal , Fragmentos de Peptídeos/sangue , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Proteína Plasmática A Associada à Gravidez/metabolismo , Sistema de Registros , Ultrassonografia Pré-Natal
11.
Med Clin (Barc) ; 150(6): 215-219, 2018 03 23.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28797703

RESUMO

OBJECTIVE: To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease. PATIENTS AND METHODS: We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage analysis, when during analysis we reach to exclude embryos that carry a high-risk haplotype linked to the causal mutation p.Leu9Phe in the GJB1 gene. RESULTS: Within the PGD cycle, we examined 4 blastomeres biopsied from cleavage-stage embryos and recommended 3 embryos for transfer. Two embryos were implanted into the uterus; however, it resulted in a singleton pregnancy with a male descendant. Three years later, the couple returned again with spontaneous gravidity. A chorionic biopsy examination of this gravidity ascertained the female sex and a pericentric inversion of chromosome 5 in 70% of the cultivated foetal cells. CONCLUSION: Using indirect linkage analysis, PGD may help to identify genetic X-linked defects within embryos during screening, thereby circumventing the potential problems with abortion.


Assuntos
Doença de Charcot-Marie-Tooth/diagnóstico , Testes Genéticos/métodos , Diagnóstico Pré-Implantação/métodos , Doença de Charcot-Marie-Tooth/genética , Conexinas/genética , Feminino , Ligação Genética , Marcadores Genéticos , Haplótipos , Humanos , Mutação , Gravidez , Proteína beta-1 de Junções Comunicantes
12.
Artigo em Inglês | MEDLINE | ID: mdl-28539672

RESUMO

BACKGROUND: Adipocyte fatty acid-binding protein (A-FABP) is a promising link between metabolic syndrome and atherosclerosis. Epicardial fat (EPI) is an independent risk factor for cardiovascular disease (CVD). OBJECTIVE: The aim of this pilot study was to evaluate the correlation between EPI and A-FABP in asymptomatic patients with a family history of CVD. METHODS: 59 subjects (39 males) (median = 54 years old) were enrolled in the study and their EPI thickness and A-FABP levels were assessed. RESULTS: EPI was found in 46 patients (77.9%). There were positive correlations between EPI and A-FABP (r=0.336; P=0.010), age (r=0.526; P<0.001), fibrinogen (r=0.304; P=0.023) and systolic blood pressure (r=0.279; P=0.034). A positive correlation was found between EPI and A-FABP in a subgroup of overweight and obese patients (0.389; P=0.041, 0.407; P=0.004) and in the subgroup of patients with excluded CVD (r=0.368; P=0.006). CONCLUSIONS: We found a positive correlation between EPI and A-FABP in a group of patients with a family history of CVD and in subgroups of overweight and obese patients.


Assuntos
Tecido Adiposo/fisiopatologia , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/fisiopatologia , Proteínas de Ligação a Ácido Graxo/sangue , Obesidade/sangue , Obesidade/fisiopatologia , Pericárdio/fisiopatologia , Adulto , Idoso , Biomarcadores/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Fatores de Risco
13.
J Hum Genet ; 61(10): 845-850, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27334366

RESUMO

The SPAST gene has a major role in hereditary spastic paraplegias (HSPs). This is the first report mapping characteristics of the SPAST gene in a large cohort of Czech HSP patients. All 17 coding exons of the SPAST gene were Sanger sequenced in 327 patients from 263 independent families with suspected uncomplicated HSP. The selected 126 independent patients, without mutation in the SPAST gene after Sanger sequencing, were subsequently tested by Multiplex Ligation-dependent Probe Amplification (MLPA) assay for large deletions or copy number variations affecting the SPAST gene. Among the 263 independent patients, 35 different, small mutations in 44 patients were found. Twenty-one mutations are novel with the majority of frameshift mutations. Seven mutations were found in more than one family. The age at onset ranged between preschool childhood and the fifth decade with inter- and intra-familiar differences. SPAST small mutations were detected in 16.7% (44/263) of independent tested patients. Mutations in the SPAST gene were found more frequently in familial cases (with affected relatives). Mutation were found in 31.9% (29/91 familial tested) in the familial patient group, whereas in the sporadic patient group, mutations were found in only 4.7% of cases (5/106 sporadic cases). Among SPAST-positive patients, 65.9% (29/44) were familial but only 11.4% (5/44) were sporadic. MLPA testing revealed four large deletions in four independent patients, all in familial-positive cases. Mutations in the SPAST gene are 5.8 × more frequent in familial than in sporadic cases. Large deletions were found only in familial patients. Diagnostic testing of the SPAST gene is useful only in positive family history patients not in sporadic cases.


Assuntos
Adenosina Trifosfatases/genética , Mutação , Paraplegia Espástica Hereditária/diagnóstico , Paraplegia Espástica Hereditária/genética , Adolescente , Adulto , Alelos , República Tcheca , Análise Mutacional de DNA , Éxons , Feminino , Genótipo , Humanos , Íntrons , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Polimorfismo Genético , Análise de Sequência de DNA , Deleção de Sequência , Espastina , Adulto Jovem
14.
Artigo em Inglês | MEDLINE | ID: mdl-27108603

RESUMO

OBJECTIVES: Omentin-1 is an adipokine which could have a protective role against the manifestation of atherosclerosis. Only limited data are available on omentin-1 serum values in patients with premature clinical manifestations of atherosclerosis. DESIGN AND METHODS: We tested omentin-1 in human serum by ELISA method in 61 individuals with a premature manifestation of coronary artery disease (CAD), 40 patients with metabolic syndrome and 40 healthy control subjects. RESULTS: Omentin-1 serum levels were significantly lower in patients with CAD (103.1±62.7 mg/L) compared to metabolic syndrome (668.2±339.6 mg/L) and healthy subjects (623.0±373.5 mg/L) (P < 0.01). In CAD patients, omentin-1 serum levels did not differ between patients sampled in the acute phase of myocardial infarction (n = 28; 110.3±82.4 mg/L) and in the chronic phase several months or years after myocardial infarction (n = 33; 97.0±39.3 mg/L) (P = 0.41). We found a weak positive correlation between omentin-1 and body mass index (r = 0.21, P = 0.014). No significant correlation was found between peak cardiac troponin T and omentin-1 (correlation coefficient r = 0.118, P = 0.406). CONCLUSION: Serum omentin-1 seems to be a useful biomarker of coronary artery disease across the whole age spectrum.


Assuntos
Doença da Artéria Coronariana/diagnóstico , Citocinas/metabolismo , Lectinas/metabolismo , Síndrome Metabólica/diagnóstico , Adolescente , Adulto , Biomarcadores/metabolismo , Estudos de Casos e Controles , Doença da Artéria Coronariana/sangue , Ensaio de Imunoadsorção Enzimática , Feminino , Proteínas Ligadas por GPI/metabolismo , Humanos , Masculino , Síndrome Metabólica/sangue , Pessoa de Meia-Idade , Infarto do Miocárdio/sangue , Infarto do Miocárdio/diagnóstico , Curva ROC , Reprodutibilidade dos Testes , Adulto Jovem
15.
Eur J Med Genet ; 58(8): 372-5, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26087224

RESUMO

Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in abnormal α-dystroglycan glycosylation have been implicated in the aetiology of WWS, most recently the ISPD gene. Typical WWS brain anomalies, such as cobblestone lissencephaly, hydrocephalus and cerebellar malformations, can be prenatally detected through routine ultrasound examinations. Here, we report two karyotypically normal foetuses with multiple brain anomalies that corresponded to WWS symptoms. Using a SNP-array examination on the amniotic fluid DNA, a homozygous microdeletion was identified at 7p21.2p21.1 within the ISPD gene. Published data and our findings led us to the conclusion that a homozygous segmental intragenic deletion of the ISPD gene causes the most severe phenotype of Walker-Warburg syndrome. Our results also clearly supports the use of chromosomal microarray analysis as a first-line diagnostic test in patients with a foetus with one or more major structural abnormalities identified on ultrasonographic examination.


Assuntos
Deleção de Genes , Nucleotidiltransferases/genética , Síndrome de Walker-Warburg/diagnóstico , Síndrome de Walker-Warburg/genética , Aborto Eugênico , Encéfalo/metabolismo , Encéfalo/patologia , Cromossomos Humanos Par 7 , Família , Feminino , Feto , Expressão Gênica , Homozigoto , Humanos , Cariótipo , Nucleotidiltransferases/deficiência , Análise de Sequência com Séries de Oligonucleotídeos , Ultrassonografia Pré-Natal , Síndrome de Walker-Warburg/diagnóstico por imagem , Síndrome de Walker-Warburg/patologia
16.
Am J Med Genet A ; 158A(10): 2545-50, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22887642

RESUMO

Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 11/genética , Síndrome da Deleção Distal 11q de Jacobsen/genética , Proteína Proto-Oncogênica c-fli-1/genética , Trombocitopenia/genética , Adulto , Feminino , Estudos de Associação Genética , Humanos , Lactente , Síndrome da Deleção Distal 11q de Jacobsen/fisiopatologia , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Adulto Jovem
17.
Neurol Res ; 33(4): 415-20, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21535941

RESUMO

BACKGROUND: Literature includes evidence of initial predominance of inflammation and later development of neurodegeneration in the pathogenesis of multiple sclerosis (MS). OBJECTIVE: To search for differences in inflammatory and degenerative cerebrospinal fluid (CSF) markers between relapsing-remitting MS (RRMS) and the clinical isolated syndrome (CIS). METHODS: A total of 148 subjects were evaluated, 65 MS patients (45 RRMS and 20 CIS) and 83 controls. The evaluated parameters included albumin quotient and prealbumin, transferrin, C3 and C4 complement factors, haptoglobin, beta-2-microglobulin, orosomucoid, alpha-1-antitrypsin, apolipoprotein A-I, apolipoprotein B, cystatin C, neuron-specific enolase, tau protein, beta-amyloid, oligoclonal IgG band (OCB), and IgG quotient (QIgG). RESULTS: No differences were found in the inflammatory and degenerative CSF markers between patients with RRMS and CIS. QIgG was higher in RRMS than that in CIS but the number of OCB was higher after CIS. Cystatin C levels were significantly lower in RRMS compared to the other groups. It can be considered an indicator of the demyelination degree. Normal values of beta-amyloid were less frequent in RRMS compared to those in controls.


Assuntos
Doenças Desmielinizantes/líquido cefalorraquidiano , Doenças Desmielinizantes/diagnóstico , Esclerose Múltipla Recidivante-Remitente/líquido cefalorraquidiano , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Degeneração Neural/líquido cefalorraquidiano , Adolescente , Adulto , Idoso , Biomarcadores/líquido cefalorraquidiano , Proteínas do Líquido Cefalorraquidiano/líquido cefalorraquidiano , Doenças Desmielinizantes/patologia , Feminino , Humanos , Imunoglobulinas/líquido cefalorraquidiano , Mediadores da Inflamação/líquido cefalorraquidiano , Mediadores da Inflamação/metabolismo , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Recidivante-Remitente/patologia , Degeneração Neural/patologia , Proteínas do Tecido Nervoso/líquido cefalorraquidiano , Valor Preditivo dos Testes , Adulto Jovem
18.
Artigo em Inglês | MEDLINE | ID: mdl-22286812

RESUMO

BACKGROUND: The current diagnosis of stroke relies on clinical examination by a physician supplemented by various neuroimaging techniques. A single set or multiple sets of blood biomarkers that could be used in acute settings to diagnosis stroke, differentiate between stroke types, and ideally predict an initial/recurring stroke would be extremely valuable. The diagnosis of stroke is currently hampered by delay due to lack of a suitable tool for rapid, accurate and analytically sensitive biomarker - based testing. There is a clear need for further assay development and clinical validation in this area (acute stroke setting) in order to improve patient outcomes and quality of life. Visinin like protein 1 (VILIP-1) is a newly discovered CNS-abundant protein which has shown promise in experimental studies, for early stroke diagnosis. However, to date there is no clinical study that has measured VILIP-1 in sera as a marker of stroke. AIM: To develop an assay for the determination of VILIP-1 in human serum, and to investigate its clinical relevance as a marker of ischemic stroke. DESIGN AND METHODS: A new sandwich ELISA was developed, introduced and clinically tested. Mean spiking recovery was 98%. The mean recovery for dilution linearity was 93%. The limit of detection of the assay was 0.01 mcg/l; the intraassay and interassay coefficient of variation (CV) were always less than 10%. The study was approved by the Ethics Commission of the Hospital Sternberk, Czech Republic. A total of 17 healthy individuals (9 men and 8 women, age 64.0 ± 13.0) and 16 individuals with ischemic stroke (10 men and 6 women, age 63.0±11.5) were recruited for our study. The criteria of stroke were proposed by the National Czech Standard. All individuals had blood samples drawn, and VILIP-1 analysis and CT and/or MRI were performed. Results. VILIP-1 serum level significantly differentiated healthy subjects from patients with stroke (P<0.01). All individuals with stroke had VILIP-1 serum values higher than > 0.05 mcg/l, healthy had values below this value. The diagnostic efficacy of serum VILIP-1 was very significant (sensitivity 100%, specificity 100% at 0.093 mcg/l VILIP-1 serum values, AUC 1.0 (CI 0.93-1.0, P<0.01), Chi-squared in the frequency table was 33 (P<0.01). CONCLUSION: We have introduced a new analytical tool for the study of VILIP-1. Our results support the hypothesis that serum VILIP-1 may be associated with ischemic stroke. The ELISA VILIP-1 assay offers a new research tool for the diagnosis and pathophysiology of stroke and other CNS diseases.


Assuntos
Neurocalcina/sangue , Acidente Vascular Cerebral/diagnóstico , Biomarcadores/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Acidente Vascular Cerebral/sangue
19.
Artigo em Inglês | MEDLINE | ID: mdl-21048804

RESUMO

BACKGROUND: Increasing evidence from numerous research studies in internal medicine shows that adipocytes and adipokines are involved in primary inflammatory processes and disease. CORS-26 (collagenous repeat- containing sequence of 26 kDa protein) is a newly discovered adipokine of the C1q/TNF molecular superfamily C1q/TNF-related protein-3 (CTRP-3) secreted, inter alia in murine monocytes and adipocytes and in human adipocytes. Reported recently as a gene product of adipocyte differentiation, it shares structural similarity with the adipocyte, adiponectin. CORS-26 is much less known than other adipocytes such as leptin and resistin. Knowledge of its various functions has clinical and therapeutic implications especially in relation to obesity and the metabolic syndrome. AIMS: This review aims to provide current knowledge of this adipokine. METHODS: Review; sources were scientific biomedical databases Medline/PubMed, BioMedCentral, Google Scholar, Ovid, ProQuest from to 1998 to 2009. CONCLUSION: CORS-26 is an adipokine that regulates the secretion of other adipokines. Its effects on adipokine secretion are most probably independent of PPAR-γ. As CORS-26 up-regulates adiponectin secretion, it may be involved in metabolic and immunologic pathways. The effect of recombinant CORS-26 on insulin signaling in the presence of the metabolic syndrome needs to be investigated to further evaluate the physiological and pathophysiological role of this protein.


Assuntos
Adipocinas/fisiologia , Fatores de Necrose Tumoral/fisiologia , Adipocinas/metabolismo , Animais , Condrogênese/fisiologia , Citocinas/metabolismo , Humanos , Síndrome Metabólica/fisiopatologia , Osteossarcoma/fisiopatologia , Túnica Íntima/fisiopatologia
20.
Br J Nutr ; 104(8): 1181-9, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20804630

RESUMO

Lower urinary tract symptoms (LUTS) are a common condition in older men. The objective of the present study was to evaluate the efficacy and tolerability of cranberry (Vaccinium macrocarpon) powder in men at risk of prostate disease with LUTS, elevated prostate-specific antigen (PSA), negative prostate biopsy and clinically confirmed chronic non-bacterial prostatitis. Forty-two participants received either 1500 mg of the dried powdered cranberries per d for 6 months (cranberry group; n 21) or no cranberry treatment (control group; n 21). Physical examination, International Prostate Symptom Score, quality of life (QoL), five-item version of the International Index of Erectile Function (IIEF-5), basic clinical chemistry parameters, haematology, Se, testosterone, PSA (free and total), C-reactive protein (CRP), antioxidant status, transrectal ultrasound prostate volume, urinary flow rate, ultrasound-estimated post-void residual urine volume at baseline, and at 3 and 6 months, and urine ex vivo anti-adherence activity were determined in all subjects. In contrast to the control group, patients in the cranberry group had statistically significant improvement in International Prostate Symptom Score, QoL, urination parameters including voiding parameters (rate of urine flow, average flow, total volume and post-void residual urine volume), and lower total PSA level on day 180 of the study. There was no influence on blood testosterone or serum CRP levels. There was no statistically significant improvement in the control group. The results of the present trial are the first firm evidence that cranberries may ameliorate LUTS, independent of benign prostatic hyperplasia or C-reactive protein level.


Assuntos
Frutas , Transtornos Urinários/dietoterapia , Vaccinium macrocarpon , Idoso , Cápsulas , Humanos , Masculino , Pessoa de Meia-Idade , Pós , Próstata , Hiperplasia Prostática/patologia
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