Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 104
Filtrar
1.
Niger J Clin Pract ; 26(10): 1436-1443, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37929518

RESUMO

Background: The Sequential Organ Failure Assessment (SOFA) score is used for the diagnosis of sepsis and involves clinical and laboratory parameters that may not be readily and/or timely available in most resource-poor settings. Procalcitonin (PCT) has its level changed in response to bacterial sepsis and its measurement costs only a fraction of the total cost of investigations required to calculate SOFA score. This study aims to determine the diagnostic usefulness of PCT in bacterial sepsis. Materials and Methods: Ninety-nine participants were studied, divided into three groups: apparently healthy volunteers, those with bacterial infection without sepsis (SOFA score <2), and patients with bacterial sepsis (positive culture and SOFA ≥2). PCT level of each participant was measured and median group levels compared. Pearson's correlation was used to determine the correlation between serum PCT levels and SOFA scores in the sepsis group using a significance level of 5 percent (P < 0.05). Diagnostic usefulness of PCT was assessed using receiver operating characteristic (ROC). Result: Positive correlation was found between serum PCT levels and SOFA scores among patients with sepsis r = 0.42, P = 0.016. At a concentration of ≥4.25 ng/ml, serum PCT as a surrogate for SOFA score had a sensitivity and specificity of 57.60% and 84.80%, respectively, for indicating sepsis. The area under the ROC curve (AUC) was 0.74 (95% CI {0.62 to 0.86}, P = 0.001). Conclusion: Serum PCT concentration was significantly higher in bacterial sepsis compared to bacterial infection without sepsis and healthy state. PCT concentration demonstrated positive correlation with SOFA score in bacterial sepsis and can be used as surrogate for sepsis screening/monitoring in resource-poor settings.


Assuntos
Infecções Bacterianas , Sepse , Humanos , Pró-Calcitonina , Prognóstico , Estudos Retrospectivos , Sepse/diagnóstico , Infecções Bacterianas/diagnóstico
2.
J Phys Ther Sci ; 35(5): 312-319, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37131358

RESUMO

[Purpose] This study aimed to determine the diagnostic utility of the sitting active and prone passive lag test in identifying terminal extension lag in unilaterally symptomatic knees. The lack of full extension at the knee leads to greater force of quadriceps activation, overloading of the weight bearing joints, abnormal gait mechanics, resulting in pain and dysfunction. [Participants and Methods] Participants were randomly assigned and evaluated by two blinded examiners, to determine the presence of extension lag at the knee. The reproducibility of test results between examiners was determined, for reliability. In addition, the ability of the test to identify the presence of extension lag in symptomatic knees and absence of extension lag in asymptomatic knees was assessed, for validity. [Results] The results revealed the test to possess an 'almost perfect' inter-rater reliability, high sensitivity, and moderate specificity. [Conclusion] The sitting active and prone passive lag test may be incorporated as a reliable and valid test to determine the presence of terminal knee extension lag in a unilaterally symptomatic knee population.

3.
BMC Infect Dis ; 22(1): 779, 2022 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-36217111

RESUMO

BACKGROUND: Predictors associated with the decision of blood culture ordering among hospitalized patients with abnormal body temperature are still underexplored, particularly non-clinical factors. In this study, we evaluated the factors affecting blood culture ordering in febrile and hypothermic inpatients. METHODS: We performed a retrospective study of 15,788 adult inpatients with fever (≥ 38.3℃) or hypothermia (< 36.0℃) from January 2016 to December 2017. We evaluated the proportion of febrile and hypothermic episodes with an associated blood culture performed within 24h. Generalized Estimating Equations were used to determine independent predictors associated with blood culture ordering among febrile and hypothermic inpatients. RESULTS: We identified 21,383 abnormal body temperature episodes among 15,788 inpatients (13,093 febrile and 8,290 hypothermic episodes). Blood cultures were performed in 36.7% (7,850/ 21,383) of these episodes. Predictors for blood culture ordering among inpatients with abnormal body temperature included fever ≥ 39℃ (adjusted odd ratio [aOR] 4.17, 95% confident interval [CI] 3.91-4.46), fever (aOR 3.48, 95% CI 3.27-3.69), presence of a central venous catheter (aOR 1.36, 95% CI 1.30-1.43), systemic inflammatory response (SIRS) plus hypotension (aOR 1.33, 95% CI 1.26-1.40), SIRS (aOR 1.26, 95% CI 1.20-1.31), admission to stem cell transplant / medical oncology services (aOR 1.09, 95% CI 1.04-1.14), and detection of abnormal body temperature during night shift (aOR 1.06, 95% CI 1.03-1.09) or on the weekend (aOR 1.05, 95% CI 1.01-1.08). CONCLUSION: Blood culture ordering for hospitalized patients with fever or hypothermia is multifactorial; both clinical and non-clinical factors. These wide variations and gaps in practices suggest opportunities to improve utilization patterns.


Assuntos
Hipotermia , Adulto , Hemocultura , Febre/diagnóstico , Humanos , Hipotermia/diagnóstico , Hipotermia/epidemiologia , Pacientes Internados , Estudos Retrospectivos , Síndrome de Resposta Inflamatória Sistêmica
4.
Am J Emerg Med ; 54: 36-40, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35104712

RESUMO

Procalcitonin (PCT) is a biomarker with greater specificity for bacterial infection than other current laboratory markers. However, PCT can also be elevated in the setting of several noninfectious conditions. A recent case report describes a patient with elevated PCT in the context of acute methamphetamine intoxication, but without evidence of infection. Thus far, no studies have evaluated the diagnostic utility of PCT in patients with active methamphetamine use. We seek to test the hypothesis that PCT has diminished utility in patients who use methamphetamine presenting to the Emergency Department (ED). We performed a retrospective cohort study of patients presenting to an academic ED between May 2017 and July 2019. We included patients ≥18 years of age with a positive urine methamphetamine test and at least two PCT results. Pregnant patients were excluded. Cases were classified as microbiologically documented infection, clinically documented infection, possible infection, or no infection by clinician review. A positive PCT value was defined as ≥0.5 ng/ml. The performance of PCT as a diagnostic test for bacterial infection in this population was then evaluated using sensitivity, specificity, false positive rate, false negative rate, and area under the receiver operating characteristic curve. We identified 143 patients, including 75 with recorded PCT levels ≥0.5 ng/ml and 93 with microbiologically or clinically documented bacterial infection. The sensitivity and specificity of PCT for bacterial infection in this study population was 60% and 64%, respectively. The false positive rate was 36% while the false negative rate was 40%. The area under the ROC curve was 0.65. Additionally, we describe 8 patients with confirmed absence of infection but with elevated PCT, 4 of whom had serum values >10 ng/ml. The results suggest that PCT has poor diagnostic utility for bacterial infection in patients with active methamphetamine use presenting to the ED.


Assuntos
Infecções Bacterianas , Metanfetamina , Infecções Bacterianas/diagnóstico , Biomarcadores , Humanos , Pró-Calcitonina , Curva ROC , Estudos Retrospectivos
5.
Ann Diagn Pathol ; 60: 151957, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35636094

RESUMO

INTRODUCTION: Gene fusion identification by RNA-based next-generation sequencing (NGS) provides important information for cancer patients. NGS is commonly initiated by treating oncologists to identify therapeutic options. However, the implications of large fusion panels on tumor classification and diagnosis are underappreciated. We investigated the extent to which these tests aid diagnosis when ordered by pathologists. METHODS: We retrospectively reviewed the results of a validated Archer FusionPlex panel ordered by surgical pathologists at our institution, excluding cases tested for therapeutic targets. One hundred thirty-five cases of solid tumors from October 2020 and September 2021 were included. We compared the initial diagnosis to the final diagnosis, which incorporated fusion gene results. We classified the cases into groups based on the degree of contribution of the RNA fusion panel to the final diagnosis. RESULTS: Among 135 cases, a fusion event was identified in 47 cases, and no fusion event was identified in 88 cases. The results changed the diagnosis in 4 of 135 fusion positive cases (3%). Twenty-one cases (15%) provided a more specific diagnosis, and original diagnosis was confirmed in 17 cases (13%). In the remaining 5 cases (4%), the results identified fusion events of unknown clinical significance. CONCLUSIONS: RNA-based NGS provides significant benefit as an ancillary diagnostic tool. In our cohort, fusion analysis provided a more definitive diagnosis in 25 cases (19%). Our findings demonstrate an important role for pathologists in appropriate utilization of molecular testing, and diagnostic workflows integrating RNA-based NGS will lead to more accurate diagnosis and better patient care.


Assuntos
Neoplasias , RNA , Fusão Gênica , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Neoplasias/diagnóstico , Neoplasias/genética , Patologistas , Estudos Retrospectivos
6.
Cytopathology ; 32(3): 331-337, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33145811

RESUMO

INTRODUCTION: This retrospective morphological study compared the results of fine needle aspiration (FNA) cytology, haematoxylin-eosin (HE)-stained samples and immunohistochemical (IHC)-stained core needle biopsy (CNB) histology samples for primary non-small cell lung cancer (NSCLC) subtyping. We assessed the diagnostic utility of these methods to investigate the contribution of each method to NSCLC subtyping. We also identified the point at which NSCLC subtyping could be performed using histomorphology alone without IHC. METHODOLOGY: Concurrent FNA and CNB specimens obtained via a single computed tomography-guided procedure and diagnosed as NSCLC in the Pathology Department of our university within 3 years were reviewed. The results of FNA samples, HE-stained biopsies and IHC-stained biopsies were compared according to subtype. RESULTS: A total of 141 subjects were enrolled in the study. For subtyping, FNA provided an accurate diagnosis in 70 (55.1%) of 127 eligible subjects after the exclusion of 14 cases determined as not otherwise specified. CNB histology without IHC achieved a diagnosis in 53 (41.7%) of 127 subjects, which was a significant difference (P < .05). The compatibility rate between HE-stained biopsy samples and IHC-stained biopsy samples was 41.7% (53/127). CONCLUSION: The diagnosis rates achieved using FNA, HE-stained CNB samples and IHC-stained CNB samples were 54.6% (77/141), 37.6% (53/141) and 90.1% (127/141), respectively. The subtype was identified in 55.1% of the subjects evaluated using FNA and 41.7% of subjects assessed using HE-stained biopsy samples without IHC. FNA provided a better result for squamous cell carcinoma than adenocarcinoma (55.1% vs 47.6%), but the diagnosing of adenocarcinoma and squamous cell carcinoma using HE-stained biopsy samples was similar (42% vs 41.7%).


Assuntos
Adenocarcinoma/diagnóstico , Adenocarcinoma/patologia , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma Pulmonar de Células não Pequenas/patologia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha Fina/métodos , Biópsia com Agulha de Grande Calibre/métodos , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patologia , Feminino , Humanos , Imuno-Histoquímica/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Coloração e Rotulagem/métodos , Turquia
7.
Clin Otolaryngol ; 46(4): 796-801, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33580555

RESUMO

OBJECTIVES: To evaluate the effect of laryngopharyngeal reflux (LPR) and antireflux treatment on peak nasal inspiratory airflow (PNIF). DESIGN: Prospective observational study was conducted. SETTING: Tertiary otorhinolaryngology clinic. PARTICIPANTS: Adults with LPR and healthy controls. MAIN OUTCOME MEASURES: PNIF measurements were performed on 60 patients who applied with complaints suggestive of LPR having higher Reflux Symptom Index (RSI) (>13) and Reflux Finding Scores (RFS) scores (>7). Proton pump inhibitor (PPI) treatment was started and PNIF measurements were repeated two months later. A total of 100 patients without any history of LPR and sinonasal disease were included in the study. RESULTS: A statistically significant increase was observed in PNIF values after proton pump inhibitor treatment. The mean PNIF values of the LPR patients were 133.83 ± 27.99 L/min and 149.92 ± 23.23 L/min before and after treatment, respectively. The mean PNIF value in the control group was 145.0 ± 25.92 L/min. PNIF values were significantly lower in the LPR relative to the control group (P < .05). CONCLUSION: Laryngopharyngeal reflux decreases PNIF. This negative effect on PNIF disappears after antireflux medication. The results of the study indicate that PNIF measurements may be an appropriate method for clinical diagnosis of LPR and evaluation of treatment results.


Assuntos
Resistência das Vias Respiratórias/efeitos dos fármacos , Refluxo Laringofaríngeo/tratamento farmacológico , Inibidores da Bomba de Prótons/uso terapêutico , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Laringoscopia , Masculino , Estudos Prospectivos , Testes de Função Respiratória
8.
J Med Virol ; 92(7): 791-796, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32181911

RESUMO

The role of clinical laboratory data in the differential diagnosis of the severe forms of COVID-19 has not been definitely established. The aim of this study was to look for the warning index in severe COVID-19 patients. We investigated 43 adult patients with COVID-19. The patients were classified into mild group (28 patients) and severe group (15 patients). A comparison of the hematological parameters between the mild and severe groups showed significant differences in interleukin-6 (IL-6), d-dimer (d-D), glucose, thrombin time, fibrinogen, and C-reactive protein (P < .05). The optimal threshold and area under the receiver operator characteristic curve (ROC) of IL-6 were 24.3 and 0.795 µg/L, respectively, while those of d-D were 0.28 and 0.750 µg/L, respectively. The area under the ROC curve of IL-6 combined with d-D was 0.840. The specificity of predicting the severity of COVID-19 during IL-6 and d-D tandem testing was up to 93.3%, while the sensitivity of IL-6 and d-D by parallel test in the severe COVID-19 was 96.4%. IL-6 and d-D were closely related to the occurrence of severe COVID-19 in the adult patients, and their combined detection had the highest specificity and sensitivity for early prediction of the severity of COVID-19 patients, which has important clinical value.


Assuntos
Betacoronavirus/patogenicidade , Doenças Cardiovasculares/diagnóstico , Infecções por Coronavirus/diagnóstico , Diabetes Mellitus/diagnóstico , Produtos de Degradação da Fibrina e do Fibrinogênio/metabolismo , Interleucina-6/sangue , Pneumonia Viral/diagnóstico , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Adulto , Idoso , Área Sob a Curva , Betacoronavirus/genética , Biomarcadores/sangue , Glicemia/metabolismo , Proteína C-Reativa/metabolismo , COVID-19 , Teste para COVID-19 , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/patologia , Técnicas de Laboratório Clínico/métodos , Infecções por Coronavirus/sangue , Infecções por Coronavirus/complicações , Infecções por Coronavirus/patologia , Complicações do Diabetes/sangue , Diabetes Mellitus/sangue , Diabetes Mellitus/patologia , Feminino , Fibrinogênio/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/sangue , Pneumonia Viral/complicações , Pneumonia Viral/patologia , Doença Pulmonar Obstrutiva Crônica/sangue , Doença Pulmonar Obstrutiva Crônica/complicações , Doença Pulmonar Obstrutiva Crônica/patologia , Estudos Retrospectivos , SARS-CoV-2 , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Tempo de Trombina
9.
Epilepsy Behav ; 102: 106718, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31786472

RESUMO

OBJECTIVE: No international guideline is available for minimum safety measures at epilepsy monitoring units (EMUs), although recommendations for preferred practices exist. These are mostly based on expert opinion, without evidence of effectiveness. We do not apply all of these preferred practices at our EMU setting. We audited adverse events and diagnostic utility at our EMU over one year. METHODS: From May 2018 to May 2019, we prospectively collected data concerning adverse events and diagnostic utility of all EMU admissions (noninvasive video-electroencephalogram (EEG) recordings); during these admissions, individuals can be ambulant within their EMU room. RESULTS: There were 1062 admissions comprising 1518 EMU days. In 2% of the admissions, a complication occurred, mostly a fall without injury (n = 6). In almost half of the falls, this was from the bed. Complications occurred most often during admissions for presurgical evaluation. Antiseizure medication (ASM) was tapered in 86% of presurgical cases, but no serious injury occurred, and occurring seizures were effectively treated with intranasal midazolam if needed. CONCLUSIONS: The overall adverse event rate was low. Falls are the most common adverse event comparable with previously published fall rates at other EMUs where people are restricted to their bed. We showed that restricted ambulation at a well-monitored EMU is not necessary and possibly unwanted. No serious injury due to tapering of ASM occurred, and intranasal midazolam was shown to be effective as acute seizure treatment.


Assuntos
Epilepsia/diagnóstico , Epilepsia/terapia , Departamentos Hospitalares , Hospitalização , Monitorização Fisiológica/normas , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
10.
Qual Life Res ; 29(2): 529-536, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31620984

RESUMO

INTRODUCTION: Generic measures of health-related quality of life are important in pediatrics. Here, we try to establish optimal cut points for the self-report and parental-report versions of the KIDSCREEN-10. METHOD: We re-analyzed data from the German Health Interview and Examination Survey for Children and Adolescents (KiGGS) study. In total, data from 2566 children, 2136 younger adolescents, and 2740 older adolescents were used. The KIDSCREEN-10 was contrasted to three different anchors: the strength and difficulties questionnaire, self-rated general health, and chronic diseases. A kernel-based method and bootstrapping were used to determine the optimal cut points and their variability. RESULTS: We found large differences in HRQoL between children with vs. without mental health problems but there is only medium-to-small differences in HRQoL between children with vs. without chronic diseases and children with self-rated good vs. poor physical health. Acceptable levels of classification accuracy were found in relation to mental health problems for all versions (AUCs between 0.77 and 0.79), but only for the parental-report version in relation to general health and for no version in relation to chronic diseases. Cut points identified as optimal differed systematically between parental-report versions (cut point = 41.13) and self-report for younger (cut point = 42.52) and older adolescents (cut point = 40.29). CONCLUSION: The results aid the interpretation of KIDSCREEN-10 in epidemiological studies. Specifically, we suggest a cut point of 41 should be used to interpret the parental-report version of the KIDSCREEN and 40 and 42, respectively, for young and older adolescents.


Assuntos
Inquéritos Epidemiológicos , Qualidade de Vida/psicologia , Autorrelato/estatística & dados numéricos , Adolescente , Criança , Doença Crônica , Estudos Epidemiológicos , Feminino , Humanos , Masculino , Pais
11.
Hum Psychopharmacol ; 35(4): e2735, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32374462

RESUMO

Assessment batteries of functional capacity provide robust indicators of real-world functioning in major psychiatric illnesses and important information on an individual's ability to live autonomously and pursue relevant psychosocial goals. OBJECTIVES: This study explores the psychometric properties of the Portuguese USCD Performance-based Skill Assessment 2 (UPSA-2-PT) in a mixed sample of Portuguese participants. METHOD: A sample of 110 participants, 37 patients diagnosed with schizophrenia, 27 first-degree relatives of patients and 46 controls were administered the UPSA-2-PT and self-report questionnaires. The UPSA-2-PT reliability was assessed through inter-rater reliability and internal consistency, convergent validity with community integration and a receiver operating curve analysis was conducted to establish scores' sensitivity and specificity. Youden's Index was used to determine an optimal UPSA-2-PT cutoff score. RESULTS: Findings show an excellent inter-rater reliability, good internal consistency and construct validity, consistent with previous studies in Western countries. The UPSA-2-PT also showed a good discriminant ability between patients and controls, and an overall percentage of correct classification of 86.7% based on the 81.59 cutoff. DISCUSSION: Findings are congruous with previous versions, strengthening the body of evidence supporting the construct validity and providing a useful tool for research and clinical purposes to practitioners.


Assuntos
Família/psicologia , Esquizofrenia/fisiopatologia , Psicologia do Esquizofrênico , Inquéritos e Questionários , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Portugal , Psicometria , Reprodutibilidade dos Testes , Autorrelato , Sensibilidade e Especificidade , Adulto Jovem
12.
Genet Med ; 21(7): 1611-1620, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30504930

RESUMO

PURPOSE: To maximize the discovery of potentially pathogenic variants to better understand the diagnostic utility of genome sequencing (GS) and to assess how the presence of multiple risk events might affect the phenotypic severity in autism spectrum disorders (ASD). METHODS: GS was applied to 180 simplex and multiplex ASD families (578 individuals, 213 patients) with exome sequencing and array comparative genomic hybridization further applied to a subset for validation and cross-platform comparisons. RESULTS: We found that 40.8% of patients carried variants with evidence of disease risk, including a de novo frameshift variant in NR4A2 and two de novo missense variants in SYNCRIP, while 21.1% carried clinically relevant pathogenic or likely pathogenic variants. Patients with more than one risk variant (9.9%) were more severely affected with respect to cognitive ability compared with patients with a single or no-risk variant. We observed no instance among the 27 multiplex families where a pathogenic or likely pathogenic variant was transmitted to all affected members in the family. CONCLUSION: The study demonstrates the diagnostic utility of GS, especially for multiple risk variants that contribute to the phenotypic severity, shows the genetic heterogeneity in multiplex families, and provides evidence for new genes for follow up.


Assuntos
Transtorno Autístico/genética , Sequenciamento do Exoma , Criança , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Fenótipo
13.
Mov Disord ; 34(7): 936-949, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31322773

RESUMO

BACKGROUND: A large number of methods have been described that use transcranial magnetic stimulation to probe the physiology of the human motor cortex. Since the 1990s, hundreds of papers have used them to investigate neurophysiological signatures of different types of movement disorders. However, in recent years there has been increasing recognition of the interindividual variability of these measures and a focus on estimating their reliability and reproducibility. Although this work has been carried out in healthy individuals, it is highly relevant to movement disorders because it may impact the validity of some accepted ("canonical") neurophysiological biomarkers. The aim of this review is to reexamine the diagnostic usefulness of transcranial magnetic stimulation methods in movement disorders in the context of present knowledge of methodological variability. METHODS: We conducted a search of the PubMed database for research and review articles on transcranial magnetic stimulation and its diagnostic utility in movement disorders (specifically Parkinson's disease and atypical parkinsonism, dystonia, Tourette syndrome and other chronic tic disorders, Huntington's disease, and essential tremor). We highlighted contradictions in the literature and common misconceptions with the aim of providing a clearer picture of the reliability of these measures in differential diagnosis of movement disorders. CONCLUSION: Although there is no doubt that these studies have provided useful insight into the pathophysiology of movement disorders, there is a clear disagreement among many studies that questions the validity of some of the so called "canonical" findings as diagnostic markers. However, useful findings remain and even those with higher variability can be used to support clinical diagnosis in selected cases. © 2019 International Parkinson and Movement Disorder Society.


Assuntos
Encéfalo/cirurgia , Distonia/diagnóstico , Transtornos dos Movimentos/diagnóstico , Doença de Parkinson/diagnóstico , Estimulação Magnética Transcraniana , Encéfalo/fisiopatologia , Distonia/fisiopatologia , Distonia/terapia , Tremor Essencial/fisiopatologia , Humanos , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/terapia , Doença de Parkinson/fisiopatologia , Doença de Parkinson/terapia , Estimulação Magnética Transcraniana/métodos
14.
Lupus ; 28(12): 1387-1396, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570052

RESUMO

BACKGROUND: This study evaluated the diagnostic performances of total and high-avidity (HA) anti-dsDNA enzyme immunoassays (EIA) in Chinese systemic lupus erythematosus (SLE) patients. METHODS: A total of 410 serum samples from 217 SLE patients, 54 patients with other systemic autoimmune diseases, and 139 healthy subjects were tested on total and HA anti-dsDNA EIA, as well as three commercial in vitro diagnostic kits: BioPlex 2200 ANA Screen, Kallestad anti-dsDNA EIA, and Crithidia Lucilae IFA. The disease activities of SLE patients were assessed using the modified SLE Disease Activity Index. The diagnostic performances of each assay were analyzed using Analyse-it software. RESULTS: The diagnostic performances of the total and HA anti-dsDNA EIA kits were comparable to other commercially available in vitro diagnostic assays. Receiver operating characteristic curve analysis demonstrated an area under the curve ranging from 0.85 to 0.89, with the total anti-dsDNA kit demonstrating the highest sensitivity and the HA kit showing higher specificity. An overall agreement of >90% was observed between the total and HA anti-dsDNA EIA kits and commercially available quantitative anti-dsDNA kits. The ratio of HA to total anti-dsDNA antibody was significantly higher among SLE patients with active disease status and/or kidney damage. All assays exhibited a significant correlation with disease activity and multiple clinical manifestations. CONCLUSIONS: While the clinical performances of various anti-dsDNA assays showed adequate agreements, the BioPlex 2200 anti-dsDNA assay demonstrated the highest positive likelihood ratio and odds ratio. The HA anti-dsDNA EIA kit in association with the total anti-dsDNA kit provided superior performance in SLE diagnosis and monitoring disease activity.


Assuntos
Anticorpos Antinucleares/sangue , Afinidade de Anticorpos/imunologia , Autoanticorpos/sangue , Lúpus Eritematoso Sistêmico/imunologia , Adulto , Idoso , Povo Asiático/etnologia , Doenças Autoimunes/sangue , Feminino , Humanos , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Pessoa de Meia-Idade , Kit de Reagentes para Diagnóstico/normas , Sensibilidade e Especificidade
16.
J Appl Microbiol ; 127(1): 230-236, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30897267

RESUMO

AIMS: In this present study, the utility of a newly developed loop-mediated isothermal amplification (LAMP) and real-time PCR assays designed to amplify the virB gene region of Brucella melitensis was evaluated from human clinical specimens. METHODS AND RESULTS: Fifty-four culture-confirmed cases of brucellosis and 54 culture negative but clinically suspected cases of brucellosis were included in the study. Whole blood, serum and other nonblood specimens were collected and subjected to blood culture using automatic blood culture system, serological tests, LAMP assay and real-time PCR. Overall sensitivities of LAMP and real-time PCR assays were 67·5 and 68·3% respectively. For nonblood clinical specimens, we noticed a marked increase in the sensitivities of LAMP (88·9%) and real-time PCR (100%) assays. CONCLUSIONS: Performance of LAMP and real-time PCR was not satisfactory for whole-blood specimens because of the low abundance of bacteria or DNA. On the other hand, using nonblood specimens, both the assays showed higher sensitivity and specificity which makes them a good alternative for the rapid diagnosis of human brucellosis. SIGNIFICANCE AND IMPACT OF THE STUDY: The developed LAMP and real-time PCR assays are a specific and rapid diagnostic tool for direct and early detection of Brucella in clinical specimens.


Assuntos
Brucella melitensis/isolamento & purificação , Brucelose/diagnóstico , Técnicas de Amplificação de Ácido Nucleico/normas , Reação em Cadeia da Polimerase em Tempo Real/normas , Proteínas de Bactérias/genética , Brucella melitensis/genética , Humanos , Sensibilidade e Especificidade
17.
Qual Life Res ; 28(5): 1111-1118, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30456716

RESUMO

INTRODUCTION: The Beck Depression Inventory revised (BDI-II) is widely used tool to screen for depression. The aim of the present study was to systematically review and synthesize studies that determined optimal cut points for the BDI-II. METHOD: We identified 27 studies that tried to identify optimal cut points for the BDI-II. Study quality was assessed using QUADAS criteria. Cut points and their variability were analyzed descriptively, via simulation and synthesized with a diagnostic meta-analysis. Analysis was performed on all studies and subgroups based on the setting (psychiatric, somatic, healthy). RESULTS: Cut points identified as optimal ranged from 10 to 25 across all studies. Simulation-based estimations of the variability inherent in studies show that much of the between-study differences may be attributed to random fluctuations. Diagnostic meta-analysis across all studies revealed that a cut point of 14.5 (95% CI 12.75-16.44) is optimal, yielding a sensitivity of 0.86 and a specificity of 0.78. Analyses within the different settings suggest using sample-specific cut points, specifically 18.18 in psychiatric settings, and 12.9 in primary care settings and healthy populations. CONCLUSION: Most studies aimed at determining optimal cut points fail to acknowledge that reported results are only estimates and subject to random fluctuations resulting in conflicting recommendations for practitioners. Taking into account these fluctuations, we find that practitioners should use different cut points to screen for depression in primary care and healthy populations (a score of 13 and higher indicates depression) and psychiatric settings (a score of 19 and higher indicates depression). Methods to describe this variability and meta-analysis to synthesize findings across studies should be used more widely.


Assuntos
Depressão/diagnóstico , Depressão/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida
18.
Clin Genet ; 93(2): 301-309, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28708278

RESUMO

The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot-Marie-Tooth disease and hereditary motor neuropathy, as well as more rare conditions where peripheral neuropathy is associated with additional features. There are over 250 genes known to cause IPN-related disorders but it is estimated that in approximately 50% of affected individuals a molecular diagnosis is not achieved. In this study, we examine the diagnostic utility of whole-exome sequencing (WES) in a cohort of 50 families with 1 or more affected individuals with a molecularly undiagnosed IPN with or without additional features. Pathogenic or likely pathogenic variants in genes known to cause IPN were identified in 24% (12/50) of the families. A further 22% (11/50) of families carried sequence variants in IPN genes in which the significance remains unclear. An additional 12% (6/50) of families had variants in novel IPN candidate genes, 3 of which have been published thus far as novel discoveries (KIF1A, TBCK, and MCM3AP). This study highlights the use of WES in the molecular diagnostic approach of highly heterogeneous disorders, such as IPNs, places it in context of other published neuropathy cohorts, while further highlighting associated benefits for discovery.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Sequenciamento do Exoma , Sequenciamento de Nucleotídeos em Larga Escala , Doenças do Sistema Nervoso Periférico/genética , Acetiltransferases/genética , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/patologia , Exoma/genética , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/genética , Cinesinas/genética , Masculino , Mutação , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/patologia , Proteínas Serina-Treonina Quinases/genética
19.
Cancer Control ; 25(1): 1073274818789357, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30037277

RESUMO

Cervical cancer (CC) remains a major diagnostic problem. The introduction of human papillomavirus vaccination significantly reduced the number of new cases; however, the search for new methods that would earlier indicate the development of cancerous changes is vital. The aim of this study was to investigate the diagnostic power of those parameters in comparison to Cancer Antigen 125 (CA 125) and Squamous Cell Carcinoma Antigen (SCC-Ag) in patients with CC and in relation to the control group. The study included 100 patients with CC and 50 healthy women. Plasma levels of tested parameters were determined by enzyme-linked immunosorbent assay, CA 125, and SCC-Ag by chemiluminescent microparticle immunoassay. Plasma levels of all parameters in the total cancer group showed statistical significance (in all cases P < .05). In stage I cancer, only vascular endothelial growth factor (VEGF) and tissue inhibitors of metalloproteinase 1; in stage II, all the tested parameters and CA 125; and in stage III + IV, VEGF, matrix metalloproteinase 9 (MMP-9), and CA 125 showed statistical significance when compared to the healthy volunteers group. Vascular endothelial growth factor showed the highest value of sensitivity from all tested parameters (I: 75%, II: 76%, III + IV: 94%, and 82% in total CC group). The highest specificity was obtained by MMP-9 (94%). In the total CC, stage I, and stage II groups, all tested parameters showed statistically significant area under the receiver operating characteristics curve (AUC), but maximum range was obtained for the combination VEGF + SCC-Ag (I: 0.9146, II: 0.8941, III + IV: 0.9139, total CC group: 0.9347). The combined analysis of tested parameters and tumor markers resulted in an increase in sensitivity and AUC values, which provides hope for developing new panel of biomarkers that may be used in the diagnosis of CC in the future.


Assuntos
Biomarcadores Tumorais/sangue , Metaloproteinase 9 da Matriz/sangue , Inibidor Tecidual de Metaloproteinase-1/sangue , Neoplasias do Colo do Útero/diagnóstico , Fator A de Crescimento do Endotélio Vascular/sangue , Adulto , Antígenos de Neoplasias/sangue , Antígeno Ca-125/sangue , Estudos de Casos e Controles , Colo do Útero/patologia , Feminino , Humanos , Proteínas de Membrana/sangue , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Curva ROC , Serpinas/sangue , Neoplasias do Colo do Útero/sangue , Neoplasias do Colo do Útero/patologia , Adulto Jovem
20.
J Child Sex Abus ; 27(7): 729-751, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29889624

RESUMO

Children with alleged child sexual abuse (CSA) need to be assessed systematically. The use of validated instruments during the assessment, like the Child Sexual Behavior Inventory (CSBI), could add diagnostic value. We aim to assess the diagnostic utility of the CSBI to differentiate between sexually abused and non-abused children. We conducted a systematic review. We searched the electronic databases MEDLINE and PsychInfo for studies comparing CSBI scores in sexually abused children and non-abused children (2-12 years old). Two independent reviewers extracted data and assessed the methodological quality. We included 7 (out of 1048) articles. The CSBI total scores were significantly higher in CSA-victims compared with non-abused children (in case-control settings). However, in children with suspected CSA, the results were ambiguous. One study reported significant differences. Another study reported weak diagnostic ability for the CSBI-3 in children with suspected CSA (a sensitivity and specificity of 0.50, with a positive predictive value of 0.28, and a negative predictive value of 0.72). Research on the diagnostic utility of the CSBI for suspected CSA is limited and shows disappointing results. Until more research is done, the CSBI should not be used on its own to differentiate between sexually abused and non-abused children.


Assuntos
Abuso Sexual na Infância , Comportamento Infantil , Testes Psicológicos/normas , Comportamento Sexual , Criança , Pré-Escolar , Humanos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA