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https://www.readbyqxmd.com/read/28545155/rapid-diagnostic-tests-for-typhoid-and-paratyphoid-enteric-fever
#1
REVIEW
Lalith Wijedoru, Sue Mallett, Christopher M Parry
BACKGROUND: Differentiating both typhoid (Salmonella Typhi) and paratyphoid (Salmonella Paratyphi A) infection from other causes of fever in endemic areas is a diagnostic challenge. Although commercial point-of-care rapid diagnostic tests (RDTs) for enteric fever are available as alternatives to the current reference standard test of blood or bone marrow culture, or to the widely used Widal Test, their diagnostic accuracy is unclear. If accurate, they could potentially replace blood culture as the World Health Organization (WHO)-recommended main diagnostic test for enteric fever...
May 26, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28544969/prior-treatment-with-non-anti-tb-antibiotics-and-the-duration-of-symptoms-have-no-effect-on-diagnostics-of-tuberculous-meningitis
#2
Marcin Paciorek, Andrzej Pihowicz, Dominik Bursa, Joanna Schöntaler Humięcka, Justyna D Kowalska, Mateusz Antosiewicz, Magda E Thompson, Agata Skrzat-Wojdacz, Agnieszka Bednarska, Andrzej Horban
PURPOSE: Our objective was to investigate whether diagnosis of tuberculous meningitis (TBM) with microbiological and molecular analysis was affected by prior empirical non anti tuberculosis antibiotics or by duration of symptoms before lumbar puncture. MATERIALS AND METHODS: We retrospectively evaluated medical records of patients with TBM confirmed by positive culture, nucleic acid amplification techniques (NAATs) or Ehrlich-Ziehl-Neelsen staining (EZNs) from the cerebrospinal fluid (CSF) or by characteristic results of biochemical analysis of CSF combined with a typical clinical manifestation...
May 22, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28544770/review-article-screening-genetics-risk-factors-and-treatment-of-neonatal-cataracts
#3
REVIEW
Jinyu Li, Chun-Hong Xia, Eddie Wang, Ke Yao, Xiaohua Gong
Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544732/similar-familial-underpinnings-for-full-and-subsyndromal-pediatric-bipolar-disorder-a-familial-risk-analysis
#4
Janet Wozniak, Mai Uchida, Stephen V Faraone, Maura Fitzgerald, Carrie Vaudreuil, Nicholas Carrellas, Jacqueline Davis, Rebecca Wolenski, Joseph Biederman
OBJECTIVES: To examine the validity of subthreshold pediatric bipolar I disorder (BP-I), we compared the familial risk for BP-I in the child probands who had either full BP-I, subthreshold BP-I, ADHD, or were controls that neither had ADHD nor bipolar disorder. METHODS: BP-I probands were youth aged 6-17 years meeting criteria for BP-I, full (N=239) or subthreshold (N=43), and also included were their first-degree relatives (N=687 and N=120, respectively). Comparators were youth with ADHD (N=162), controls without ADHD or bipolar disorder (N=136), and their first-degree relatives (N=511 and N=411, respectively)...
May 22, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28544683/comprehensive-genetic-study-of-cystic-fibrosis-in-slovak-patients-in-25-years-of-genetic-diagnostics
#5
Andrea Soltysova, Eva Tothova Tarova, Andrej Ficek, Marian Baldovic, Helena Polakova, Hana Kayserova, Ludevit Kadasi
INTRODUCTION: Cystic fibrosis (CF) has one of the longest histories in hereditary disease molecular diagnostics. However, identification of causative mutations in the CFTR gene is complicated by over two thousand currently identified mutations; with more still being discovered. Knowledge of mutation spectrum may improve effective routine diagnostics and is obligatory in mutation-specific treatment. OBJECTIVES: This study presents comprehensive mutation screening of the CFTR gene; with 275 unrelated, clinically confirmed and treated cystic fibrosis (CF) patients diagnosed in 25 years genetic testing in Slovakia...
May 20, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28544540/serum-adrenomedullin-and-urinary-thromboxane-b2-help-early-categorizing-acute-kidney-injury-in-de-compensated-cirrhotic-patients-a-prospective-cohort-study
#6
Chih-Wei Liu, Chia-Chang Huang, Hung-Cheng Tsai, Yen-Bo Su, Shiang-Fen Huang, Kuei-Chuan Lee, Yun-Cheng Hsieh, Tzu-Hao Li, Chang-Youh Tsai, Lee-Won Chong, Shuo-Ming Ou, Ying-Ying Yang, Wen-Chien Fan, Ming-Chih Hou, Han-Chieh Lin, Shou-Dong Lee
AIMS: Increases in the systemic vasodilator adrenomedullin and the renal vasoconstrictors thromboxane A2 (TXA2 ) in cirrhotic patients are pathogenic factors for the development of functional acute-kidney-injury, including pre-renal azotemia (PRA) and hepatorenal syndrome (HRS), which is associated with high mortality. This study aims to find biomarkers which can diagnose HRS in early stage for treating it as soon as possible. METHODS: Acute decompensated cirrhotic patients who had been admitted to hospital were enrolled in this prospective cohort study...
May 20, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28544538/cornelia-de-lange-syndrome-to-diagnose-or-not-to-diagnose-in-utero
#7
REVIEW
Laura Avagliano, Gaetano Pietro Bulfamante, Valentina Massa
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544277/use-of-a-vascular-closure-device-during-percutaneous-arterial-access-in-a-dog-with-impaired-hemostasis
#8
Brian A Scansen, Caitlin M Hokanson, Steven G Friedenberg, Hooman Khabiri
OBJECTIVE: To report the use of a vascular closure device (VCD) to provide rapid arterial hemostasis following percutaneous femoral arterial catheterization and diagnostic angiography in a thrombocytopenic and coagulopathic dog. CASE SUMMARY: A 6-year-old female spayed Kai Ken Tora dog presented after vehicular trauma. The dog was diagnosed with traumatic pneumothorax, degloving wounds of the right antebrachium, subcutaneous hemorrhage within the axillary tissues of the left thoracic limb, and anemia and thrombocytopenia secondary to acute hemorrhage...
May 23, 2017: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/28544236/clinical-and-laboratory-phenotype-variability-in-type-2m-von-willebrand-disease
#9
Ashley L Doruelo, Sandra L Haberichter, Pamela A Christopherson, Lisa N Boggio, Sweta Gupta, Steven R Lentz, Amy D Shapiro, Robert R Montgomery, Veronica H Flood
BACKGROUND: Von Willebrand factor (VWF) is a multimeric coagulation factor that tethers platelets to injured subendothelium. Type 2M von Willebrand Disease (VWD) is characterized by a qualitative defect in VWF with preserved multimer distribution. OBJECTIVES: Through the Zimmerman Program for the Molecular and Clinical Biology for VWD, five VWF sequence variations were studied in subjects diagnosed with type 2M VWD. METHODS: Bleeding phenotype was assessed using the ISTH bleeding assessment tool...
May 20, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28544157/malignancies-in-korean-patients-with-immunoglobulin-g4-related-disease
#10
Sung Soo Ahn, Jason Jungsik Song, Yong-Beom Park, Sang-Won Lee
AIM: Several studies have implicated increased risk of malignancy in patients with immunoglobulin G4-related disease (IgG4-RD). Hence, we first evaluated the risk and the type of malignancy in Korean IgG4-RD patients. METHOD: Clinical and laboratory results of patients fulfilling the comprehensive diagnostic criteria for IgG4-RD were retrospectively collected between January 2006 and November 2015. One hundred and eighteen patients were included, and 35 were classified as having definite, 83 as possible/probable IgG4-RD...
May 22, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28544121/is-a-delay-in-the-diagnosis-of-bipolar-disorder-inevitable
#11
Kristina Fritz, Alex M T Russell, Christine Allwang, Sandy Kuiper, Lisa Lampe, Gin S Malhi
OBJECTIVE: A diagnosis of bipolar disorder (BD) is often preceded by an initial diagnosis of depression, creating a delay in the accurate diagnosis and treatment of BD. Although previous research has focused on predictors of a diagnosis change from depression to BD, the research on this delay in diagnosis is sparse. Therefore, the present study examined the time taken to make a BD diagnosis following an initial diagnosis of major depressive disorder in order to further understand the patient characteristics and psychological factors that may explain this delay...
May 22, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28544059/objective-assessment-of-the-evolutionary-action-equation-for-the-fitness-effect-of-missense-mutations-across-cagi-blinded-contests
#12
Panagiotis Katsonis, Olivier Lichtarge
A major challenge in genome interpretation is to estimate the fitness effect of coding variants of unknown significance (VUS). Labor, limited understanding of protein functions, and lack of assays generally limit direct experimental assessment of VUS, and make robust and accurate computational approaches a necessity. Often, however, algorithms that predict mutational effect disagree amongst themselves and with experimental data, slowing their adoption for clinical diagnostics. To objectively assess such methods, the Critical Assessment of Genome Interpretation (CAGI) community organizes contests to predict unpublished experimental data, available only to CAGI assessors...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28543974/neck-sonography-and-suppressed-thyroglobulin-have-high-sensitivity-for-identifying-recurrent-persistent-disease-in-patients-with-low-risk-thyroid-cancer-treated-with-total-thyroidectomy-and-radioactive-iodine-ablation-making-stimulated-thyroglobulin-unnecessary
#13
José M Domínguez, Flavia Nilo, Tania Contreras, Rocío Carmona, Nicolás Droppelmann, Hernán González, Virginia Iturrieta, R Michael Tuttle
OBJECTIVES: Follow-up of patients with low-risk differentiated thyroid cancer treated with total thyroidectomy and radioiodine requires neck sonography and thyroglobulin (Tg). The need to stimulate Tg is controversial. The goal of this study was to compare the diagnostic performances of sonography plus suppressed or stimulated Tg in low-risk thyroid cancer. METHODS: After total thyroidectomy and radioiodine, patients with low-risk thyroid cancer were retrospectively identified as having structural or biochemical persistence/recurrence...
May 24, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28543961/automated-low-contrast-pattern-recognition-algorithm-for-magnetic-resonance-image-quality-assessment
#14
Morgan Ehman, Zhonghao Bao, Scott A Stiving, Mallik Kasam, Dianna Lanners, Teresa Peterson, Renee Jonsgaard, Rickey Carter, Kiaran P McGee
PURPOSE: Low contrast (LC) detectability is a common test criterion for diagnostic radiologic quality control (QC) programs. Automation of this test is desirable in order to reduce human variability and to speed up analysis. However, automation is challenging due to the complexity of the human visual perception system and the ability to create algorithms that mimic this response. This paper describes the development and testing of an automated LC detection algorithm for use in the analysis of magnetic resonance (MR) images of the American College of Radiology (ACR) QC phantom...
May 24, 2017: Medical Physics
https://www.readbyqxmd.com/read/28543940/greater-gains-in-spine-and-hip-strength-for-romosozumab-compared-to-teriparatide-in-postmenopausal-women-with-low-bone-mass
#15
T M Keaveny, D B Crittenden, M A Bolognese, H K Genant, K Engelke, B Oliveri, J P Brown, B L Langdahl, C Yan, A Grauer, C Libanati
Romosozumab is a monoclonal antibody that inhibits sclerostin and has been shown to reduce the risk of fractures within 12 months. In a Phase II, randomized, placebo-controlled clinical trial of treatment-naïve postmenopausal women with low bone mass, romosozumab increased BMD at the hip and spine by the dual effect of increasing bone formation and decreasing bone resorption. In a substudy of that trial, which included placebo and teriparatide arms, here we investigated whether those observed increases in BMD also resulted in improvements in estimated strength, as assessed by finite element analysis...
May 25, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28543881/a-review-of-blood-sample-handling-and-pre-processing-for-metabolomics-studies
#16
REVIEW
Vinicius Veri Hernandes, Coral Barbas, Danuta Dudzik
Metabolomics has been found to be applicable to a wide range of clinical studies, bringing a new era for improving clinical diagnostics, early disease detection, therapy prediction and treatment efficiency monitoring. A major challenge in metabolomics, particularly untargeted studies, is the extremely diverse and complex nature of biological specimens. Despite great advances in the field there still exist fundamental needs for considering pre-analytical variability that can introduce bias to the subsequent analytical process and decrease the reliability of the results and moreover confound final research outcomes...
May 19, 2017: Electrophoresis
https://www.readbyqxmd.com/read/28543841/role-of-fluorescence-in-situ-hybridization-in-diagnosing-cholangiocarcinoma-in-indeterminate-biliary-strictures
#17
Z H Liew, T J Z Loh, T K H Lim, T H Lim, C J L Khor, S J Mesenas, C S C Kong, W C Ong, D M Y Tan
BACKGROUND: Brush cytology, the conventional method to diagnose cholangiocarcinoma, has been plagued by low diagnostic sensitivity and false-negative results. We aim to study the clinical utility of fluorescence in situ hybridization (FISH) in enhancing identification of malignant biliary strictures. METHODS: Brush cytologic specimens collected from endoscopic retrograde cholangiopancreatography (ERCP) for biliary strictures in a tertiary hospital in Singapore from March 2013 to July 2015 were examined by FISH technique using UroVysion probe set in this study...
May 19, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28543735/the-repetition-of-behavioral-assessments-in-diagnosis-of-disorders-of-consciousness
#18
Sarah Wannez, Lizette Heine, Marie Thonnard, Olivia Gosseries, Steven Laureys
OBJECTIVE: To determine whether repeated examinations using the Coma Recovery Scale-Revised have an impact on diagnostic accuracy of patients with disorders of consciousness and to provide guidelines regarding the number of assessments required for obtaining a reliable diagnosis. METHODS: 123 adult patients with chronic disorders of consciousness were referred to our tertiary center. They were assessed at least 6 times with the Coma Recovery Scale-Revised within a 10-day period...
May 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28543644/detection-of-viral-hepatitis-e-in-clinical-liver-biopsies
#19
Sandrine Prost, Claire L Crossan, Harry R Dalton, Robert A De Man, Nassim Kamar, Janick Selves, Catharine Dhaliwal, Linda Scobie, Christopher O C Bellamy
AIMS: to determine the relative utility of in situ testing for hepatitis E virus (HEV) RNA and paraffin section PCR to diagnose HEV infection in paraffin-embedded clinical liver biopsies, and to correlate with clinico-pathological characteristics. METHODS AND RESULTS: We evaluated in situ and quantitative PCR (qPCR)-based approaches to identifying HEV in clinical liver biopsies from infected patients from multiple centers, correlating with clinical setting (immunocompetent, allograft or immunosuppressed native liver) and histologic findings...
May 24, 2017: Histopathology
https://www.readbyqxmd.com/read/28543532/intraepidermal-merkel-cell-carcinoma-a-case-series-of-a-rare-entity-with-clinical-follow-up
#20
George Jour, Phyu P Aung, Eduardo Rozas-Muñoz, Johnathan L Curry, Victor Prieto, Doina Ivan
BACKGROUND: Merkel cell carcinoma (MCC) is a rare but aggressive cutaneous carcinoma. MCC involves typically dermis and although epidermotropism has been reported, MCC strictly intraepidermal or in situ (MCCIS) is exceedingly rare. Most of the cases of MCCIS described so far have associated other lesions, such as squamous or basal cell carcinoma, actinic keratosis, etc. Herein, we describe three patients with MCC strictly in situ, without a dermal component. METHODS: Our patients were elderly, two of the lesions involved the head and neck area and one was on a finger...
May 23, 2017: Journal of Cutaneous Pathology
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