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https://www.readbyqxmd.com/read/27735925/early-manifestations-of-type-1-gaucher-disease-in-presymptomatic-children-diagnosed-after-parental-carrier-screening
#1
Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27499777/preanalytical-errors-in-hematology-laboratory-an-avoidable-incompetence
#2
Vikram Narang HarsimranKaur, Pavneet Kaur Selhi, Neena Sood, Aminder Singh
BACKGROUND: Quality assurance in the hematology laboratory is a must to ensure laboratory users of reliable test results with high degree of precision and accuracy. Even after so many advances in hematology laboratory practice, pre-analytical errors remain a challenge for practicing pathologists. This study was undertaken with an objective to evaluate the types and frequency of preanalytical errors in hematology laboratory of our center. METHODS: All the samples received in the Hematology Laboratory of Dayanand Medical College and Hospital, Ludhiana, India over a period of one year (July 2013-July 2014) were included in the study and preanalytical variables like clotted samples, quantity not sufficient, wrong sample, without label, wrong label were studied...
2016: Iranian Journal of Pathology
https://www.readbyqxmd.com/read/27389485/new-mab-therapies-in-multiple-myeloma-interference-with-blood-transfusion-compatibility-testing
#3
Karen M K De Vooght, Marlies Oostendorp, Wouter W van Solinge
PURPOSE OF REVIEW: Immunotherapeutic strategies are emerging as novel therapeutic approaches in multiple myeloma, with several mAbs being in advanced stages of clinical development. Of these, CD38 targeting antibodies appear very promising. In trials with anti-CD38 mAb daratumumab, all patients demonstrated panreactivity in red blood cell (RBC) panel testing, complicating the selection of compatible RBCs for transfusion. This review provides an overview of the interferences and solutions to safely transfuse these patients...
November 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/27313267/incidence-risk-factors-and-morbidity-of-acquired-postnatal-cytomegalovirus-infection-among-preterm-infants-fed-maternal-milk-in-a-highly-seropositive-population
#4
Fábia Pereira Martins-Celini, Aparecida Yulie Yamamoto, Débora Manzione Passos, Suely Dornellas do Nascimento, Edinéia Vaciloto Lima, Célia Mara Di Giovanni, Ellen Regina Sevilla Quadrado, Roberta Barta, Davi Casale Aragon, Seila Israel do Prado, Maria Fernanda Branco de Almeida, Marisa Márcia Mussi-Pinhata
BACKGROUND: In preterm infants cytomegalovirus (CMV) infection acquired through maternal milk has been related to morbidity. However, infants who may receive higher titers of protective antibodies from highly seropositive mothers have not been studied in detail. METHODS: A cohort of 188 ≤30-week-old infants was monitored from admission to discharge. CMV-DNA, hematology, liver enzymes, neutralizing antibodies, and CMV-DNA-lactia were tested periodically. RESULTS: Mothers of 157 infants (83...
October 1, 2016: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/27124785/section-e6-1-6-4-of-the-acmg-technical-standards-and-guidelines-chromosome-studies-of-neoplastic-blood-and-bone-marrow-acquired-chromosomal-abnormalities
#5
Fady M Mikhail, Nyla A Heerema, Kathleen W Rao, Rachel D Burnside, Athena M Cherry, Linda D Cooley
These American College of Medical Genetics and Genomics standards and guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
June 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/26686339/the-impact-of-red-blood-cell-distribution-width-and-neutrophil-lymphocyte-ratio-on-the-diagnosis-of-major-depressive-disorder
#6
Fatih Demircan, Nevzat Gözel, Faruk Kılınç, Ramazan Ulu, Murat Atmaca
INTRODUCTION: Major depressive disorder (MDD) is an important risk factor for cardiovascular mortality and morbidity. Red blood cell distribution width (RDW) and neutrophil/lymphocyte ratio (NLR) can be obtained with a basic hemogram test. These parameters have been found as a predictor of mortality in the general population and in several diseases such as cardiovascular disease. METHODS: Our study included 100 patients with newly diagnosed MDD and 100 healthy control patients (who had no depressive symptoms and without heart disease) admitted to our outpatient clinics...
June 2016: Neurology and Therapy
https://www.readbyqxmd.com/read/26548240/-advanced-testing-and-laboratory-for-hbv-hcv-and-hiv-infection
#7
REVIEW
Matsuo Deguchi
Most target substances for immunoassay of infectious disease are antigens or antibodies which do not exist in the human body. Therefore, the method to set reference values is different from chemistry or hematology testing. High sensitivity is required for infectious disease testing, particularly for screening. Also, its reference values (cut-off values) are set as low as possible. Therefore, a false-positive reaction can be caused due to slightly non-specific reactions in infectious disease reagents. The specificities for infectious disease reagents were evaluated with 9 kinds of HCV antibody test kit and 9 kinds of HIV screening kit...
June 2015: Rinsho Byori. the Japanese Journal of Clinical Pathology
https://www.readbyqxmd.com/read/26437749/laboratory-tests-for-disorders-of-complement-and-complement-regulatory-proteins
#8
Angela R Shih, Mandakolathur R Murali
The complement pathway is a cascade of proteases that is involved in immune surveillance and innate immunity, as well as adaptive immunity. Dysfunction of the complement cascade may be mediated by aberrations in the pathways of activation, complement regulatory proteins, or complement deficiencies, and has been linked to a number of hematologic disorders, including paroxysmal noctural hemoglobinuria (PNH), hereditary angioedema (HAE), and atypical hemolytic-uremic syndrome (aHUS). Here, current laboratory tests for disorders of the complement pathway are reviewed, and their utility and limitations in hematologic disorders and systemic diseases are discussed...
December 2015: American Journal of Hematology
https://www.readbyqxmd.com/read/26434881/creatine-kinase-ck-mb-to-total-ck-ratio-a-laboratory-indicator-for-primary-cancer-screening
#9
Chih-Chun Chang, Ching-Biau Liou, Ming-Jang Su, Yi-Chen Lee, Chai-Ting Liang, Jung-Li Ho, Huang-Wen Tsai, Tzung-Hai Yen, Fang-Yeh Chu
BACKGROUND: For the determination of creatine kinase (CK)-MB, the immunoinhibition method is utilized most commonly. However, the estimated CK-MB activity may be influenced by the presence of CK isoenzymes in some conditions like cancer. Thus, a CK-MB-to-total-CK ratio more than 1.0 could be found in such a situation. The study aimed to explore the relationship of cancer to high CK-MB-to-total-CK ratio. MATERIALS AND METHODS: From January 2011 to December 2014, laboratory data on all CK-MB and total CK test requests were extracted at Far Eastern Memorial Hospital (88,415 requests)...
2015: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/26429162/real-time-quantitative-pcr-detection-of-wt1-and-m-bcr-abl-expressions-in-chronic-myeloid-leukemia
#10
Annamária Szántó, Zsuzsánna Pap, Lóránd Dénes, Erzsébet Benedek Lázár, Adrienne Horváth, Alíz Beáta Tunyogi, Beáta Ágota Baróti, Zoltán Pávai
UNLABELLED: The Philadelphia chromosome and the resulting BCR-ABL fusion gene represent the hallmark event in chronic myeloid leukemia (CML) and their discoveries radically changed the management of these patients. Currently Wilms tumor 1 gene (WT1) is intensively investigated as high WT1 expression levels have been demonstrated in case of multiple solid tumors and malignant hematological syndromes (acute myeloid and lymphoid leukemia, myelodysplastic syndromes and chronic myeloid leukemia)...
2015: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/26109315/current-status-and-future-prospects-of-point-of-care-testing-around-the-globe
#11
EDITORIAL
Gyorgy Abel
In the past half-century, routine central laboratory testing has become increasingly automated and efficient. The majority of clinical chemistry, immunochemistry and hematology testing are performed using high throughput instrumentation, with sophisticated automation. Microbiology, immunohematology and molecular diagnostic testing are also becoming increasingly automated. Recent challenges in healthcare demand new diagnostic solutions worldwide. Point-of-care testing (POCT) offers considerable advantages over central laboratory testing, such as fast and simple specimen handling, and simpler sample requirement (no additives and mostly blood from finger stick; and urine)...
2015: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/26100068/cancer-related-fatigue-in-patients-with-advanced-cancer-treated-with-autonomic-nerve-pharmacopuncture
#12
Ji-hye Park, Hyung-jun Jeon, Hwi-joong Kang, In-Sook Jeong, Chong-kwan Cho, Hwa-seung Yoo
The purpose of this study was to observe the effects of autonomic nerve pharmacopuncture (ANP) treatment on cancer-related fatigue (CRF) in patients with advanced cancer. This observational case study was conducted at the East West Cancer Center of Daejeon University's Dunsan Korean Medical Hospital. Two patients were observed. One patient was diagnosed with left thymic cancer metastatic to the left pleura. The other patient had terminal-stage cervical cancer with iliac bone and lumbar 5 metastases. We injected mountain ginseng pharmacopuncture (MGP) into acupoints alongside the spine (Hua-Tuo-Jia-Ji-Xue, EX B2)...
June 2015: Journal of Acupuncture and Meridian Studies
https://www.readbyqxmd.com/read/26060410/percutaneous-microwave-ablation-combined-with-simultaneous-transarterial-chemoembolization-for-the-treatment-of-advanced-intrahepatic-cholangiocarcinoma
#13
Guo-Wei Yang, Qing Zhao, Sheng Qian, Liang Zhu, Xu-Dong Qu, Wei Zhang, Zhi-Ping Yan, Jie-Min Cheng, Qing-Xin Liu, Rong Liu, Jian-Hua Wang
AIM: To retrospectively evaluate the safety and efficacy of ultrasound-guided percutaneous microwave ablation (MWA) combined with simultaneous transarterial chemoembolization (TACE) in the treatment of patients with advanced intrahepatic cholangiocarcinoma (ICC). METHODS: All patients treated with ultrasound-guided percutaneous MWA combined with simultaneous TACE for advanced ICC at our institution were included. Posttreatment contrast-enhanced computed tomography and/or magnetic resonance imaging were retrieved and reviewed for tumor response to the treatment...
2015: OncoTargets and Therapy
https://www.readbyqxmd.com/read/25676380/hematology-testing-in-urgent-care-and-resource-poor-settings-an-overview-of-point-of-care-and-satellite-testing
#14
REVIEW
Anthony N Sireci
The combination of requirements for decreased turnaround time for hematology laboratory results and advances in technology have driven testing closer to the point of patient contact. This article provides an overview of the technologies available to measure hemoglobin, white blood cell counts, differentials, and CD4+ T cells at the patient's bedside and in satellite laboratories. Comparison with traditional laboratory testing, regulatory requirements, and operational considerations are also discussed, where appropriate...
March 2015: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/25445211/development-of-a-high-resolution-melting-curve-analysis-screening-test-for-srsf2-splicing-factor-gene-mutations-in-myelodysplastic-syndromes
#15
Eduardo Garza, Emiliano Fabiani, Nelida Noguera, Paola Panetta, Maria L Piredda, Loredana Borgia, Luca Maurillo, Gianfranco Catalano, Maria T Voso, Francesco Lo-Coco
Somatic mutations of the spliceosome machinery have been recently identified by whole genome analysis in hematologic diseases, such as myelodysplastic syndrome, chronic lymphocytic leukemia, myeloproliferative neoplasms, acute myeloid leukemia, and advanced forms of mastocytosis, and also in nonhematologic conditions. SRSF2 is a member of the serine/arginine-rich family pre-mRNA splicing factors that plays a role in mRNA export from the nucleus and translation. We describe a high-resolution melting (HRM) curve analysis to screen for SRSF2 hotspot mutations in a fast, sensitive, and reliable way...
January 2015: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/25394651/a-composite-model-including-visfatin-tissue-polypeptide-specific-antigen-hyaluronic-acid-and-hematological-variables-for-the-diagnosis-of-moderate-to-severe-fibrosis-in-nonalcoholic-fatty-liver-disease-a-preliminary-study
#16
COMPARATIVE STUDY
Alina Chwist, Marek Hartleb, Andrzej Lekstan, Michał Kukla, Krzysztof Gutkowski, Maciej Kajor
INTRODUCTION: Histopathological risk factors for end-stage liver failure in patients with nonalcoholic fatty liver disease (NAFLD) include nonalcoholic steatohepatitis (NASH) and advanced liver fibrosis. There is a need for noninvasive diagnostic methods for these 2 conditions. OBJECTIVES: The aim of this study was to investigate new laboratory variables with a predictive potential to detect advanced fibrosis (stages 2 and 3) in NAFLD. PATIENTS AND METHODS: The study involved 70 patients with histologically proven NAFLD of varied severity...
2014: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/25140787/-monomac-syndrome
#17
REVIEW
Zhao-Long Chen, Yun-Fei An, Xiao-Dong Zhao
MonoMAC syndrome is a newly discovered immune deficiency syndrome caused by GATA-2 mutation, which is an autosomal dominant genetic disease. MonoMAC syndrome has typical immune cell abnormalities, with severe infection and is prone to develop into a hematological disease. Therapeutics for this disease mainly relies on symptomatic treatment and hematopoietic stem cell transplantation. In this paper, the research advances in clinical manifestations, laboratory tests, pathogenesis, diagnosis and treatment of MonoMAC syndrome are reviewed...
August 2014: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/25111236/liver-involvement-in-early-autosomal-dominant-polycystic-kidney-disease
#18
RANDOMIZED CONTROLLED TRIAL
Marie C Hogan, Kaleab Abebe, Vicente E Torres, Arlene B Chapman, Kyongtae T Bae, Cheng Tao, Hongliang Sun, Ronald D Perrone, Theodore I Steinman, William Braun, Franz T Winklhofer, Dana C Miskulin, Frederic Rahbari-Oskoui, Godela Brosnahan, Amirali Masoumi, Irina O Karpov, Susan Spillane, Michael Flessner, Charity G Moore, Robert W Schrier
BACKGROUND & AIMS: Polycystic liver disease (PLD), the most common extrarenal manifestation of autosomal-dominant polycystic kidney disease (ADPKD), has become more prevalent as a result of increased life expectancy, improved renal survival, reduced cardiovascular mortality, and renal replacement therapy. No studies have fully characterized PLD in large cohorts. We investigated whether liver and cyst volumes are associated with volume of the hepatic parenchyma, results from liver laboratory tests, and patient-reported outcomes...
January 2015: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/24977443/-interest-of-ugt1a1-genotyping-within-digestive-cancers-treatment-by-irinotecan
#19
REVIEW
Jean-Christophe Boyer, Marie-Christine Etienne-Grimaldi, Fabienne Thomas, Sylvie Quaranta, Nicolas Picard, Marie-Anne Loriot, Delphine Poncet, Marie-Claude Gagnieu, Cécile Ged, Franck Broly, Valérie Le Morvan, Régis Bouquié, Marie-Pierre Gaub, Laurent Philibert, François Ghiringhelli, Chantal Le Guellec
Irinotecan is a cytotoxic agent administered by IV infusion in the treatment of advanced colorectal cancer. Its anticancer activity results from its bioactivation into SN-38 metabolite, which is cleared through glucuronidation by the hepatic enzyme uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1). In the general population, there is wide inter-subject variability in UGT1A1 enzyme activity related to UGT1A1 gene polymorphisms. The French joint workgroup coming from the National Pharmacogenetic Network (RNPGx) and the Group of Clinical Oncologic Pharmacology (GPCO) herein presents an updated review dealing with efficacy and toxicity clinical studies related to UGT1A1 genetic variants...
June 2014: Bulletin du Cancer
https://www.readbyqxmd.com/read/24702767/reporting-and-grading-of-abnormal-red-blood-cell-morphology
#20
REVIEW
B T Constantino
In spite of the continual standardization of test result formats, the improvements of laboratory technologies, publications of reference guidelines, and the advancements in hematology analyzers, the methods of reporting or grading abnormal red blood cell morphology still vary among laboratories everywhere. This article describes the methods or systems of reporting abnormal red cell morphology and the conditions associated with the abnormalities.
February 2015: International Journal of Laboratory Hematology
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