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diagnostic reference levels

Yaeji Lim, Ji Soo Choi, Kiyoun Kim, Mira Park, Seonwoo Kim
Diagnostic procedures are mostly used to detect a particular disease, and each procedure indicates the presence or absence of the disease in an individual. Sensitivity and positive predictive value, which are measures of the effectiveness of a diagnostic procedure, are simply calculated as the proportion of the individuals diagnosed with the disease by the test among the patients with the disease, and of the diseased persons among the individuals in whom the disease was detected by the test, respectively. For a diagnosis with such a binary result, sensitivity and the positive predictive value of diagnostic procedures can be compared using the chi-square statistic...
January 1, 2018: Statistical Methods in Medical Research
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
Huidong Li, Pei Zhang, Shuaifang Yuan, Huiyuan Tian, Dandan Tian, Min Liu
Objective: To establish early diagnosis model of inflammatory factors for atherosclerosis (AS), providing theoretical evidence for early detection of AS and development of plaques. Methods: Serum samples were collected to detect the inflammatory factors including CysC, Hcy, hs-CRP, UA, FIB, D-D, LP (a), IL-6, SAA, sCD40L and MDA. Using Logistic regression analysis, the inflammatory factors used for modeling were screened out, and then the AS early diagnosis models were established based on receiver operating characteristic (ROC) curve, support vector machine and BP neural network respectively...
December 2017: Saudi Journal of Biological Sciences
Ida K Fox, Christine B Novak, Emily M Krauss, Gwendolyn M Hoben, Craig Zaidman, Rimma Ruvinskaya, Neringa Juknis, Anke C Winter, Susan E Mackinnon
BACKGROUND: Nerve transfer surgery to restore upper extremity (UE) function in cervical spinal cord injury (SCI) is novel and may transform treatment. Determining candidacy even years post-SCI is ill-defined and deserves investigation. OBJECTIVE: To develop a diagnostic algorithm, focusing on electrodiagnostic studies (EDX), to determine eligibility for nerve transfer surgery. DESIGN: Retrospective descriptive case series SETTING: Tertiary university-based institution PATIENTS: Individuals with cervical SCI (n = 45) METHODS: The electronic medical records of people referred to the Plastic and Reconstructive Surgery UE Surgery in SCI clinic from 2010-2015 were reviewed...
March 15, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
Mattia Bonzi, Giulia Cernuschi, Monica Solbiati, Giuliano Giusti, Nicola Montano, Elisa Ceriani
Infective endocarditis (IE) is a serious and potentially life-threatening disease, and accurate diagnosis is essential. We performed a systematic review and meta-analysis to assess the diagnostic accuracy of transthoracic echocardiography (TTE), with transesophageal echocardiography (TEE) as the reference standard, in patients with suspected IE of the native valves. We performed a systematic search in MEDLINE, EMBASE and Cochrane Library searching for studies that enrolled adult patients with suspected native valves IE where data about both TTE and TEE could be extracted...
March 15, 2018: Internal and Emergency Medicine
C-A Philip, G Dubernard
Endometriosis is difficult to diagnose clinically. Transvaginal sonography (TVS) is a procedure that is known to be operator-dependent, which mean that published evidences has to be balanced with the level of the sonographer that produced the data. The objective of this publication was to assess the performances of the sonography in the diagnosis of endometriosis in order to establish the French national recommendations. We searched the MEDLINE database for publication from January 2000 to September 2017 using keywords associated with endometriosis and sonography...
March 12, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
Ioannis A Tsalafoutas
OBJECTIVE: To investigate whether electronic collimation software, which is available in all digital X-ray systems, may comprise an overexposure risk. METHODS: In the context of surveys on Diagnostic Reference Levels carried out in two radiographic facilities, along with data on exposure factors, the radiographic field sizes were also recorded. In one facility (Unit A), a wireless flat panel detector is used with a conventional X-ray unit, while in the other, a fully digital system is installed (Unit B)...
March 15, 2018: British Journal of Radiology
Akshay S Thomas, Angel L Hatef, Sandra S Stinnett, Robert T Keenan, Glenn J Jaffe
PURPOSE: In this study, we hypothesized that thickening along the major arcade vessels is a noninvasive marker of inflammation in eyes with birdshot retinochoroiditis (BRC). METHODS: In this single-center retrospective study, patients with BRC were identified. Perivascular thickening was categorized as mild, moderate, or severe, based on a set of standard reference retinal thickness maps derived from representative spectral domain optical coherence tomography volume scans...
March 14, 2018: Retina
Yangming Gong, Peng Peng, Pingping Bao, Weijian Zhong, Yan Shi, Kai Gu, Ying Zheng, Chunxiao Wu, Sanjun Cai, Ye Xu, Jun Sheng, Fan Wu
BACKGROUND: The incidence and mortality rate of colorectal cancer (CRC) have increased dramatically over the past 3 decades in China due to changes in lifestyle factors. Early detection and treatment guidelines for asymptomatic cases have shown to improve CRC control in developed countries. In response to these challenges, the Shanghai Municipal Government launched a community-based CRC screening program in 2012. MATERIALS AND METHODS: Free initial screening, inclusive of immunochemical fecal occult blood and risk assessment (questionnaire), was provided by community health centers in Shanghai...
March 14, 2018: Oncologist
L Alejo, E Corredoira, F Sánchez-Muñoz, C Huerga, Z Aza, R Plaza-Núñez, A Serrada, M Bret-Zurita, M Parrón, C Prieto-Areyano, G Garzón-Moll, R Madero, E Guibelalde
Objective: The new 2013/59 EURATOM Directive (ED) demands dosimetric optimisation procedures without undue delay. The aim of this study was to optimise paediatric conventional radiology exams applying the ED without compromising the clinical diagnosis. METHODS: Automatic dose management software (ADMS) was used to analyse 2678 studies of children from birth to 5 years of age, obtaining local diagnostic reference levels (DRLs) in terms of entrance surface air kerma. Given local DRL for infants and chest exams exceeded the European Commission (EC) DRL, an optimisation was performed decreasing the kVp and applying the automatic control exposure...
March 14, 2018: British Journal of Radiology
Georgi Tchernev
BACKGROUND: We present to the attention of the medical, dermatological and oncosurgical community data that serves to indicate the indispensability of optimisation of the algorithm and recommendations for diagnosis and surgical treatment of cutaneous melanoma. These recommendations could be referred to different subgroups of patients in different clinical stages as well as to patients with different initial characterisation (histological morphology) of the primary tumours. One step surgery is not a myth, even more, it could prove to be one of the best solutions for some patient collectives with advanced stages of melanoma...
February 15, 2018: Open Access Macedonian Journal of Medical Sciences
Takashi Ariizumi, Hiroyuki Kawashima, Akira Ogose, Taro Sasaki, Tetsuo Hotta, Hiroshi Hatano, Tetsuro Morita, Naoto Endo
The value of routine blood tests in malignant soft tissue tumors remains uncertain. To determine if these tests can be used for screening, the routine pretreatment blood test findings were retrospectively investigated in 359 patients with benign and malignant soft tissue tumors. Additionally, the prognostic potential of pretreatment blood abnormalities was evaluated in patients with soft tissue sarcomas. We compared clinical factors and blood tests findings between patients with benign and malignant soft tissue tumors using univariate and multivariate analysis...
January 2018: Annals of Clinical and Laboratory Science
Roan Louw, Izelle Smuts, Kimmey-Li Wilsenach, Lindi-Maryn Jonck, Maryke Schoonen, Francois H van der Westhuizen
BACKGROUND: Coenzyme Q10 (CoQ10 ) is an important component of the mitochondrial respiratory chain (RC) and is critical for energy production. Although the prevalence of CoQ10 deficiency is still unknown, the general consensus is that the condition is under-diagnosed. The aim of this study was to retrospectively investigate CoQ10 deficiency in frozen muscle specimens in a cohort of ethnically diverse patients who received muscle biopsies for the investigation of a possible RC deficiency (RCD)...
February 23, 2018: Molecular Genetics and Metabolism
Elena Pérez-Ruiz, Deborah Decrop, Karen Ven, Lisa Tripodi, Karen Leirs, Joelle Rosseels, Marlies van de Wouwer, Nick Geukens, Ann De Vos, Eugeen Vanmechelen, Joris Winderickx, Jeroen Lammertyn, Dragana Spasic
The close correlation between Tau pathology and Alzheimer's disease (AD) progression makes this protein a suitable biomarker for diagnosis and monitoring of the disorder evolution. However, the use of Tau in diagnostics has been hampered, as it currently requires collection of cerebrospinal fluid (CSF), which is an invasive clinical procedure. Although measuring Tau-levels in blood plasma would be favorable, the concentrations are below the detection limit of a conventional ELISA. In this work, we developed a digital ELISA for the quantification of attomolar protein Tau concentrations in both buffer and biological samples...
July 26, 2018: Analytica Chimica Acta
Vishal Hegde, Zachary D C Burke, Howard Y Park, Stephen D Zoller, Daniel Johansen, Benjamin V Kelley, Ben Levine, Kambiz Motamedi, Noah C Federman, Leanne L Seeger, Scott D Nelson, Nicholas M Bernthal
BACKGROUND: Although there is widespread acceptance of core needle biopsy (CNB) for diagnosing solid tumors, there is reluctance by some clinicians to use CNB for aneurysmal bone cysts (ABCs) as a result of concerns of safety (bleeding, nerve injury, fracture, readmission, or infection) and reliability, particularly to rule out malignant diagnoses like telangiectatic osteosarcoma. This is especially true when CNB tissue is sent from an outside hospital, where the technique used to obtain the tissue may be spurious...
March 2018: Clinical Orthopaedics and related Research
Avinoam Nevler, Yaniv Berger, Avital Rabinovitz, Oded Zmora, Moshe Shabtai, Danny Rosin, Mordechai Gutman
BACKGROUND: Acute appendicitis (AA) is one of the most common indications for emergency abdominal surgery. OBJECTIVES: To assess the diagnostic and prognostic value of serum bilirubin and liver enzyme levels in the management of acute appendicitis. METHODS: Consecutive emergency department patients referred for a surgical consult for suspected AA were prospectively enrolled in the study. Data regarding demographic, clinical and laboratory results were recorded...
March 2018: Israel Medical Association Journal: IMAJ
Diana João Fonseca, Manuel Joaquim Vaz da Silva
INTRODUCTION AND OBJECTIVES: The importance of sodium channels for the normal electrical activity of the heart is emphasized by the fact that mutations (inherited or de novo) in genes that encode for these channels or their associated proteins cause arrhythmogenic syndromes such as the Brugada syndrome and the long QT syndrome (LQTS). The aim of this study is to conduct a review of the literature on the mutations in the sodium channel complex responsible for heart disease and the implications of a close relationship between genetics and the clinical aspects of the main cardiac channelopathies, namely at the level of diagnosis, risk stratification, prognosis, screening of family members and treatment...
March 7, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
Vidula Purohit, Abhay Kudale, Neisha Sundaram, Saju Joseph, Christian Schaetti, Mitchell G Weiss
BACKGROUND: Prior experience and the persisting threat of influenza pandemic indicate the need for global and local preparedness and public health response capacity. The pandemic of 2009 highlighted the importance of such planning and the value of prior efforts at all levels. Our review of the public health response to this pandemic in Pune, India, considers the challenges of integrating global and national strategies in local programmes and lessons learned for influenza pandemic preparedness...
May 9, 2017: International Journal of Health Policy and Management
Valerie Charbonneau, Edmund Kwok, Loree Boyle, Ian G Stiell
BACKGROUND: The goal of this study was to determine if ED surge and end-of-shift assessment of patients affect the extent of diagnostic tests, therapeutic interventions and accuracy of diagnosis prior to referral to internal medicine. METHODS: This study was a health records review of consecutive patients referred to the internal medicine service with an ED diagnosis of heart failure, chronic obstructive pulmonary disease (COPD) or sepsis starting 1 December 2013 until 100 cases for each condition had been obtained...
March 9, 2018: Emergency Medicine Journal: EMJ
S Kottou, N Kollaros, C Plemmenos, I Mastorakou, S C Apostolopoulou, V Tsapaki
This study aimed to evaluate paediatric radiation doses in a dedicated cardiology hospital, with the objective of characterising patterns in dose variation. The ultimate purpose was to define Local (Institutional) Diagnostic Reference Levels (LDRLs) for different types of paediatric cardiac interventional procedures (IC), according to patient age. From a total of 710 cases performed during three consecutive years, by operators with more than 15 years of experience, the age was noted in only 477 IC procedures...
February 2018: Physica Medica: PM
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