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Diagnostic markers

Dedong He, Zhongyi Yue, Guangjun Li, Liping Chen, Hailong Feng, Jianwei Sun
BACKGROUND Recent studies showed low expression of microRNA (miR)-101 in various malignancies. However, the association of serum miR-101 and colorectal cancer (CRC) remains unknown. We investigated diagnostic and prognostic significance of serum miR-101 in CRC. MATERIAL AND METHODS A total of 263 consecutive CRC patients and 126 healthy controls were enrolled in this study. Serum miR-101 levels were measured using real-time quantitative reverse transcription polymerase chain reactions. The association between serum miR-101 level and survival outcome was analyzed...
October 20, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Rachel Jester, Iya Znoyko, Maria Garnovskaya, Joseph N Rozier, Ryan Kegl, Sunil Patel, Tuan Tran, Malak Abedalthagafi, Craig M Horbinski, Mary Richardson, Daynna J Wolff, Razvan Lapadat, William Moore, Fausto J Rodriguez, Jason Mull, Adriana Olar
Endolymphatic sac tumor (ELST) is a rare neoplasm arising in the temporal petrous region thought to originate from endolymphatic sac epithelium. It may arise sporadically or in association with Von-Hippel-Lindau syndrome (VHL). The ELST prevalence in VHL ranges from 3 to 16% and may be the initial presentation of the disease. Onset is usually in the 3rd to 5th decade with hearing loss and an indolent course. ELSTs present as locally destructive lesions with characteristic computed tomography imaging features...
October 19, 2018: Acta Neuropathologica Communications
Xiao-Hua Yu, Lin-Hao He, Jia-Hui Gao, Da-Wei Zhang, Xi-Long Zheng, Chao-Ke Tang
Pregnancy-associated plasma protein-A (PAPP-A), a member of the metzincin metalloproteinase superfamily, can enhance local insulin-like growth factor (IGF) bioavailability through proteolytic cleavage of three IGF binding proteins. In patients with coronary atherosclerosis disease (CAD), elevated PAPP-A levels are significantly associated with a higher risk of cardiovascular events. Accumulating evidence indicates that this protease exerts a proatherogenic effect by altering a variety of pathological processes involved in atherosclerosis, including lipid accumulation, vascular inflammation, endothelial dysfunction, vascular smooth muscle cell proliferation and migration, plaque stability, and thrombus formation...
October 9, 2018: Atherosclerosis
Garrett Smith, Stephanie K Bell, John T Sladky, Peter B Kang, Mehmet S Albayram
Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. Ventral spinal root atrophy is a consistent pathological finding in post-mortem examinations of patients who suffered from various subtypes of spinal muscular atrophy; however, corresponding radiographic findings have not been previously reported. We present a patient with hypotonia and weakness who was found to have ventral spinal root atrophy in the lumbosacral region on MRI and was subsequently diagnosed with spinal muscular atrophy...
October 5, 2018: Clinical Imaging
Alfred H Böcking, David Friedrich, Dietrich Meyer-Ebrecht, Chenyan Zhu, Anna Feider, Stefan Biesterfeld
BACKGROUND: The average sensitivity of conventional cytology for the identification of cancer cells in effusion specimens is only approximately 58%. DNA image cytometry (DNA-ICM), which exploits the DNA content of morphologically suspicious nuclei measured on digital images, has a sensitivity of up to 91% for the detection of cancer cells. However, when performed manually, to our knowledge to date, an expert needs approximately 60 minutes for the analysis of a single slide. METHODS: In the current study, the authors present a novel method of supervised machine learning for the automated identification of morphologically suspicious mesothelial and epithelial nuclei in Feulgen-stained effusion specimens...
October 19, 2018: Cancer Cytopathology
S S Lim, N S Kakoly, J W J Tan, G Fitzgerald, M Bahri Khomami, A E Joham, S D Cooray, M L Misso, R J Norman, C L Harrison, S Ranasinha, H J Teede, L J Moran
Women with polycystic ovary syndrome (PCOS) have increased risk of metabolic syndrome. The relative contribution of clinical, demographic or biochemical factors to metabolic syndrome in PCOS is not known. A literature search was conducted in MEDLINE, CINAHL, EMBASE and clinical trial registries. Of 4530 studies reviewed, 59 were included in the systematic review and 27 in the meta-analysis and meta-regression. In good and fair quality studies, women with PCOS had an overall increased prevalence of metabolic syndrome (odds ratio, OR 3...
October 19, 2018: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
Camila D M Campos, Sachindra S T Gamage, Joshua M Jackson, Malgorzata A Witek, Daniel S Park, Michael C Murphy, Andrew K Godwin, Steven A Soper
Cell-free DNA (cfDNA) is a liquid biopsy marker that can carry signatures (i.e., mutations) associated with certain pathological conditions. Therefore, the extraction of cfDNA from a variety of clinical samples can be an effective and minimally invasive source of markers for disease detection and subsequent management. In the oncological diseases, circulating tumor DNA (ctDNA), a cfDNA sub-class, can carry clinically actionable mutations and coupled with next generation sequencing or other mutation detection methods provide a venue for effective in vitro diagnostics...
October 19, 2018: Lab on a Chip
H-W Qu, Y Jin, Z-L Cui, X-B Jin
OBJECTIVE: This study aims to investigate whether microRNA-373-3p could inhibit the progression of prostate cancer (PCa) by targeting and degrading AKT1. PATIENTS AND METHODS: Expression levels of microRNA-373-3p and AKT1 in PCa tissues and benign prostate hyperplasia (BPN) tissues were detected by quantitative Real-Time-Polymerase Chain Reaction (qRT-PCR). According to the follow-up data, survival curves and receiver operating characteristic (ROC) curves were drawn to investigate whether microRNA-373-3p could be served as a biomarker for early diagnosis and prognosis of PCa...
October 2018: European Review for Medical and Pharmacological Sciences
A Cremona, C O'Gorman, A Cotter, J Saunders, A Donnelly
Background/aim: Exercise can be used as a strategy to attenuate hyperglycaemia experienced during gestational diabetes mellitus (GDM). To maximize its use for clinical management, the most effective modality should be identified. The purpose of this review is to elucidate the most effective modality of exercise on insulin sensitivity and blood glucose control in pregnant women with or at risk of GDM. Methods: A search was undertaken in MEDLINE, PubMed, Scopus, CINAHL, the Cochrane Library, Embase and the Maternity & Infant Healthcare Database...
October 2018: Obesity Science & Practice
Saikou Y Bah, Thorsten Forster, Paul Dickinson, Beate Kampmann, Peter Ghazal
Background: Whole blood expression profiling is a mainstay for delineating differential diagnostic signatures of infection yet is subject to high variability that reduces power and complicates clinical usefulness. To date, confirmatory high confidence expression profiling signatures for clinical use remain uncertain. Here we have sought to evaluate the reproducibility and confirmatory nature of differential expression signatures, comprising molecular and cellular pathways, across multiple international clinical observational studies investigating children and adult whole blood transcriptome responses to tuberculosis (TB)...
2018: Frontiers in Genetics
Pedrum Mohammadi-Shemirani, Jennifer Sjaarda, Hertzel C Gerstein, Darin J Treleaven, Michael Walsh, Johannes F Mann, Matthew J McQueen, Sibylle Hess, Guillaume Paré
BACKGROUND: Identifying markers of chronic kidney disease (CKD) that occur early in the disease process and are specific to loss of kidney function rather than other underlying causes of disease may allow earlier, more accurate identification of patients who will develop CKD. We therefore sought to identify diagnostic blood markers of early CKD that are caused by loss of kidney function by using an innovative "reverse Mendelian randomization" (MR) approach. METHODS: We applied this technique to genetic and biomarker data from 4147 participants in the Outcome Reduction with Initial Glargine Intervention (ORIGIN) trial, all with known type 2 diabetes, impaired fasting glucose, or impaired glucose tolerance...
October 18, 2018: Clinical Chemistry
Pedro Gómez-Vilda, Zoltan Galaz, Jiri Mekyska, José M Ferrández Vicente, Andrés Gómez-Rodellar, Daniel Palacios-Alonso, Zdenek Smekal, Ilona Eliasova, Milena Kostalova, Irena Rektorova
Neurodegenerative pathologies as Parkinson's Disease (PD) show important distortions in speech, affecting fluency, prosody, articulation and phonation. Classically, measurements based on articulation gestures altering formant positions, as the Vocal Space Area (VSA) or the Formant Centralization Ratio (FCR) have been proposed to measure speech distortion, but these markers are based mainly on static positions of sustained vowels. The present study introduces a measurement based on the mutual information distance among probability density functions of kinematic correlates derived from formant dynamics...
August 19, 2018: International Journal of Neural Systems
Matthew P Butler, Jeffery T Emch, Michael Rueschman, Scott A Sands, Steven A Shea, Andrew Wellman, Susan Redline
RATIONALE: Obstructive sleep apnea is a risk factor for mortality, but its diagnostic metric-the apnea-hypopnea index-is a poor risk predictor. This apnea-hypopnea index does not capture the range of physiological variability within and between patients, such as degree of hypoxemia and sleep fragmentation, that reflect differences in pathophysiological contributions of airway collapsibility, chemoreceptive negative feedback loop gain, and arousal threshold. OBJECTIVE: To test whether respiratory event duration, a heritable sleep apnea trait reflective of arousal threshold, predicts all-cause mortality...
October 19, 2018: American Journal of Respiratory and Critical Care Medicine
Zezhou Xie, Peipei Ma
BACKGROUND: The main aim of this study was to evaluate the expression and specific role of miR-33 in the progression of coronary heart disease (CAD), thereby evaluating their diagnostic ability and use in treatment in CAD patients. METHODS: Real time PCR was carried out to explore the level of miR-33 in the plasma of CAD patients and controls. ELISA was performed to analyze the level of placenta growth factor fragment (PLGF). Correlations between miR-33 and PLGF as well as other biochemical parameters were performed with Pearson's correlation analysis...
October 1, 2018: Clinical Laboratory
Catherine M Worsley, Elizabeth S Mayne
BACKGROUND: Suitable laboratory testing prior to transplantation ensures that a patient's immunological risk is understood and allows the transplantation team to make the correct decisions on donor-recipient pairing. Preformed donor-specific anti-HLA antibodies mediate rejection in transplanted patients. Improved laboratory testing is needed to increase the chances of successful organ allocation. In this study, we show how Luminex™ single antigen assays are vital in determining immunological risk to transplantation and in predicting waiting time to transplantation...
October 1, 2018: Clinical Laboratory
Caner Turan, Eylem Ulas Saz
OBJECTIVE: Children are presented with an unknown intoxication at emergency department (ED) after carbon monoxide (CO) poisoning. Although CO poisoning is well defined in the adult literature, little information exists regarding CO poisoning in childhood, especially in infants. The only diagnostic test for CO poisoning is elevation of the carboxyhemoglobin level in the blood. CASE: We report the second youngest neonate in literature who was severely poisoned by CO and treated with hyperbaric oxygen at the ED...
October 17, 2018: Pediatric Emergency Care
Wujood Khayat, Anna Hackett, Marie Shaw, Alina Ilie, Tracy Dudding-Byth, Vera M Kalscheuer, Louise Christie, Mark A Corbett, Jane Juusola, Kathryn L Friend, Brian M Kirmse, Jozef Gecz, Michael Field, John Orlowski
We report two unrelated families with multigenerational nonsyndromic intellectual disability segregating with a recurrent de novo missense variant (c.1543C>T:p.Leu515Phe) in the alkali cation/proton exchanger gene SLC9A7 (also commonly referred to as NHE7). SLC9A7 is located on human X chromosome at Xp11.3 and has not yet been associated with a human phenotype. The gene is widely transcribed, but especially abundant in brain, skeletal muscle and various secretory tissues. Within cells, SLC9A7 resides in the Golgi apparatus, with prominent enrichment in the trans-Golgi network (TGN) and post-Golgi vesicles...
October 17, 2018: Human Molecular Genetics
Minghui Shen, Ya Gao, Xueni Ma, Bo Wang, Jiarui Wu, Jiancheng Wang, Jipin Li, Jinhui Tian, Junhai Jia
BACKGROUND: Endometriosis is a major cause of disability and compromised the quality of life in women and teenage girls. The gold standard for diagnosis of endometriosis is laparoscopy with histology of excised endometriosis lesions. However, women can suffer for 8 to 12 years before obtaining a correct diagnosis. Several biomarkers showed good diagnostic value for endometriosis, but no studies directly or indirectly compare the diagnostic value of different biomarkers. We perform this network meta-analysis (NMA) to assess the diagnostic accuracy of hormonal biomarkers, and to find a most effective hormonal biomarker for the diagnosis of endometriosis...
October 2018: Medicine (Baltimore)
Zujie Mao, Alin Ji, Kebing Yang, Wei He, Yingfang Hu, Qi Zhang, Dahong Zhang, Liping Xie
OBJECTIVES: The prostate cancer gene 3 (PCA3), human kallikrein 2, and miRNA-141 are promising prostate cancer (Pca) specific biomarkers. Our aim was to evaluate the detection of PCA3, human glandular kallikrein 2 (hk2), and miRNA-141 mRNA in peripheral blood of patients received prostate biopsy. What's more, we want to detect the value of combination of PSA (prostate specific antigen) in the early diagnosis of PCa. MATERIALS AND METHODS: Hundred patients were divided into 2 groups according to the results of pathologic diagnosis...
October 2018: Medicine (Baltimore)
Pooja Dewan, Anupriya Dixit, Sunil Gomber, Mrinalini Kotru, Basu D Banerjee, Vipin Tyagi, Rajeev K Malhotra
Bone marrow iron estimation remains the gold standard for diagnosing iron-deficiency anemia (IDA); serum ferritin, total iron-binding capacity, and transferrin saturation are routinely used as surrogate markers of IDA. However, these tests are marred by problems like poor specificity and sensitivity. Recently, hepcidin, a protein hormone synthesized in the liver and excreted in urine, has been shown to be related to iron status. We estimated the serum and urinary hepcidin levels in healthy children aged 6 to 60 months with (n=30) and without IDA (n=30)...
October 16, 2018: Journal of Pediatric Hematology/oncology
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