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https://www.readbyqxmd.com/read/28735299/identification-of-the-first-dominant-mutation-of-lama5-gene-causing-a-complex-multisystem-syndrome-due-to-dysfunction-of-the-extracellular-matrix
#1
Simone Sampaolo, Filomena Napolitano, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Adriano Barra, Ferdinando Cirillo, Mariarosa Anna Beatrice Melone, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito
BACKGROUND: The laminin alpha 5 gene (LAMA5) plays a master role in the maintenance and function of the extracellular matrix (ECM) in mammalian tissues, which is critical in developmental patterning, stem cell niches, cancer and genetic diseases. Its mutations have never been reported in human disease so far. The aim of this study was to associate the first mutation in LAMA5 gene to a novel multisystem syndrome. METHODS: A detailed characterisation of a three-generation family, including clinical, biochemical, instrumental and morphological analysis, together with genetics and expression (WES and RNAseq) studies, was performed...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28728652/accuracy-of-fractional-flow-reserve-measurements-in-clinical-practice-observations-from-a-core-laboratory-analysis
#2
Mitsuaki Matsumura, Nils P Johnson, William F Fearon, Gary S Mintz, Gregg W Stone, Keith G Oldroyd, Bernard De Bruyne, Nico H J Pijls, Akiko Maehara, Allen Jeremias
OBJECTIVES: The aim of this study was to compare site-reported measurements of fractional flow reserve (FFR) with FFR analysis by an independent core laboratory (CL). BACKGROUND: FFR is an index of coronary stenosis severity that has been validated in multiple trials and is widely used in clinical practice. However, the incidence of suboptimal FFR measurements is unknown. METHODS: Patients undergoing FFR assessment within the CONTRAST (Can Contrast Injection Better Approximate FFR Compared to Pure Resting Physiology) study had paired, repeated measurements of multiple physiological metrics per local practice...
July 24, 2017: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28727985/comparative-study-and-analytical-verification-of-pcr-methods-for-the-diagnosis-of-congenital-chagas-disease
#3
Carolina Inés Cura, Juan Carlos Ramírez, Marcelo Rodríguez, Constanza Lopez-Albízu, Lucía Irazu, Karenina Scollo, Sergio Sosa-Estani
Congenital infection is currently the first cause of new cases of Chagas disease in Argentina and nonendemic areas worldwide. Its diagnosis is of utmost importance to guarantee curative treatment. To improve such diagnosis, a transfer process of PCR tests to the national laboratory network has been initiated. We performed a comparative study of four PCR assays [two end-point PCR and two duplex real-time quantitative PCR (qPCR) procedures] to detect Trypanosoma cruzi DNA in blood samples. Because satellite DNA and kinetoplastid DNA qPCR methods have the best performance and the use of two different molecular targets for confirmatory purposes has been recommended, these methods selected to perform the transfer process and, in consequence, subjected to an analytical verification protocol based on international guidelines...
July 17, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28727608/evaluation-of-non-invasive-hemoglobin-monitoring-in-trauma-patients-with-low-hemoglobin-levels
#4
Medhat Gamal, Bassant Abdelhamid, Dina Zakaria, Omnia Abd El Dayem, Ashraf Rady, Maher Fawzy, Ahmed Hasanin
OBJECTIVE: Bleeding is a leading cause of death among trauma patients. Delayed assessment of blood hemoglobin level might result in either unnecessary blood transfusion in non-indicated patients or delayed blood transfusion in critically bleeding patients. In this study, we evaluate the precision of non-invasive hemoglobin monitoring in trauma patients with low hemoglobin levels. METHODS: We included trauma patients with low hemoglobin levels (less than 8 g/dL) scheduled for surgical intervention...
July 19, 2017: Shock
https://www.readbyqxmd.com/read/28727021/physiology-and-endocrinology-symposium-the-effects-of-poor-maternal-nutrition-during-gestation-on-offspring-postnatal-growth-and-metabolism
#5
M L Hoffman, S A Reed, S M Pillai, A K Jones, K K McFadden, S A Zinn, K E Govoni
Poor maternal nutrition during gestation has been linked to poor growth and development, metabolic dysfunction, impaired health, and reduced productivity of offspring in many species. Poor maternal nutrition can be defined as an excess or restriction of overall nutrients or specific macro- or micronutrients in the diet of the mother during gestation. Interestingly, there are several reports that both restricted- and over-feeding during gestation negatively affect offspring postnatal growth with reduced muscle and bone deposition, increased adipose accumulation, and metabolic dysregulation through reduced leptin and insulin sensitivity...
May 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28725320/splice-site-variants-in-the-kcnq1-and-scn5a-genes-transcript-analysis-as-a-tool-in-supporting-pathogenicity
#6
Ivone U S Leong, Philippa A Dryland, Debra O Prosser, Stella W-S Lai, Mandy Graham, Martin Stiles, Jackie Crawford, Jonathan R Skinner, Donald R Love
BACKGROUND: Approximately 75% of clinically definite long QT syndrome (LQTS) cases are caused by mutations in the KCNQ1, KCNH2 and SCN5A genes. Of these mutations, a small proportion (3.2-9.2%) are predicted to affect splicing. These mutations present a particular challenge in ascribing pathogenicity. METHODS: Here we report an analysis of the transcriptional consequences of two mutations, one in the KCNQ1 gene (c.781_782delinsTC) and one in the SCN5A gene (c.2437-5C>A), which are predicted to affect splicing...
August 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28721836/assisted-reproductive-technologies-a-hierarchy-of-risks-for-conception-pregnancy-outcomes-and-treatment-decisions
#7
M J Davies, A R Rumbold, V M Moore
The use of assisted reproductive technologies (ART) for the treatment of infertility has grown exponentially over the last 20 years, and now accounts for 4% of all births in Australia, and over 1 m births annually around the globe. There is consistent reporting of increased risk of adverse perinatal outcomes and birth defects following infertility treatment. However, change in practice has been stymied by critical knowledge gaps with regards to (a) the relative contribution of patient and treatment factors to adverse outcomes, (b) the independent contribution of specific contemporary treatments and treatment combinations to outcomes, (c) the impact of innovations in laboratory and clinical practice on treatment success and observed risk and (d) changes over time in patient characteristics...
August 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28714381/gemcitabine-associated-pseudocellulitis-a-missed-diagnosis
#8
Dalvir Gill, Josh Schrader, Matthew Kelly, Fidel Martinez, Wajihuddin Syed, Jonathan Wright
We report a case of a 51-year-old male with past medical history significant for cholangiocarcinoma presented with two weeks of worsening bilateral lower extremity swelling and erythema. Patient has been on active chemotherapy for his cholangiocarcinoma with Gemcitabine weekly infusions. Physical exam was significant for bilaterally petechial rash coalescing into ecchymoses over the dorsum of the feet, sparing soles and toes, which dissipated into thinning petechiae more proximally. On labs he did not have any leukocytosis, his platelet count was 50 × 10(3)/µL and basic metabolic panel was benign...
January 1, 2017: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/28713599/lyme-carditis-buried-beneath-st-segment-elevations
#9
Basia Michalski, Adrian Umpierrez De Reguero
Lyme disease is caused by the spirochete Borrelia burgdorferi and is carried to human hosts by infected ticks. There are nearly 30,000 cases of Lyme disease reported to the CDC each year, with 3-4% of those cases reporting Lyme carditis. The most common manifestation of Lyme carditis is partial heart block following bacterial-induced inflammation of the conducting nodes. Here we report a 45-year-old gentleman that presented to the hospital with intense nonradiating chest pressure and tightness. Lab studies were remarkable for elevated troponins...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28704975/current-knowledge-on-the-use-of-computational-toxicology-in-hazard-assessment-of-metallic-engineered-nanomaterials
#10
REVIEW
Guangchao Chen, Willie Peijnenburg, Yinlong Xiao, Martina G Vijver
As listed by the European Chemicals Agency, the three elements in evaluating the hazards of engineered nanomaterials (ENMs) include the integration and evaluation of toxicity data, categorization and labeling of ENMs, and derivation of hazard threshold levels for human health and the environment. Assessing the hazards of ENMs solely based on laboratory tests is time-consuming, resource intensive, and constrained by ethical considerations. The adoption of computational toxicology into this task has recently become a priority...
July 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28704594/critical-diagnoses-in-cytopathology-experience-at-a-large-medical-center
#11
Juan Xing, Lindsey Seigh, Sara E Monaco, N Paul Ohori, Samuel A Yousem, Rajnikant Amin, Liron Pantanowitz
BACKGROUND: Critical values have been well established and accepted in laboratory medicine, but to the authors' knowledge are less well accepted in anatomic pathology. Herein, the authors used a reporting process whereby reports with critical diagnoses were coded to ensure that the patient's clinical team was promptly notified electronically of this finding. The aim of the current study was to determine whether this coding mechanism was used appropriately for critical cytopathology diagnoses in the study health care system...
July 13, 2017: Cancer
https://www.readbyqxmd.com/read/28695354/mobile-health-clinic-for-the-medical-management-of-clinical-sequelae-experienced-by-survivors-of-the-2013-2016-ebola-virus-disease-outbreak-in-sierra-leone-west-africa
#12
R E Guetiya Wadoum, A Samin, N G Mafopa, M Giovanetti, G Russo, P Turay, J Turay, M Kargbo, M T Kanu, B Kargbo, J Akpablie, C J Cain, P Pasin, V Batwala, M S Sobze, M Potestà, A Minutolo, V Colizzi, C Montesano
An Ebola survivor Mobile Health Clinic (MHC) was established to implement lasting changes in communities it operates by providing effective and efficient mobile healthcare. After months of development, the MHC solution was operationalised in February 2015, aiming to provide integrated primary healthcare services to address the medical and psychosocial needs of Ebola virus (EBOV) survivors living in areas with low medical coverage. A total of 910 medical consultations for 246 EBOV survivors were performed between 7 February 2015 and 10 June 2016...
July 10, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28694792/context-is-everything-harmonization-of-critical-food-microbiology-descriptors-and-metadata-for-improved-food-safety-and-surveillance
#13
Emma Griffiths, Damion Dooley, Morag Graham, Gary Van Domselaar, Fiona S L Brinkman, William W L Hsiao
Globalization of food networks increases opportunities for the spread of foodborne pathogens beyond borders and jurisdictions. High resolution whole-genome sequencing (WGS) subtyping of pathogens promises to vastly improve our ability to track and control foodborne disease, but to do so it must be combined with epidemiological, clinical, laboratory and other health care data (called "contextual data") to be meaningfully interpreted for regulatory and health interventions, outbreak investigation, and risk assessment...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28688224/defining-a-roadmap-for-harmonizing-quality-indicators-in-laboratory-medicine-a-consensus-statement-on-behalf-of-the-ifcc-working-group-laboratory-error-and-patient-safety-and-eflm-task-and-finish-group-performance-specifications-for-the-extra-analytical-phases
#14
Laura Sciacovelli, Mauro Panteghini, Giuseppe Lippi, Zorica Sumarac, Janne Cadamuro, César Alex De Olivera Galoro, Isabel Garcia Del Pino Castro, Wilson Shcolnik, Mario Plebani
The improving quality of laboratory testing requires a deep understanding of the many vulnerable steps involved in the total examination process (TEP), along with the identification of a hierarchy of risks and challenges that need to be addressed. From this perspective, the Working Group "Laboratory Errors and Patient Safety" (WG-LEPS) of International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) is focusing its activity on implementation of an efficient tool for obtaining meaningful information on the risk of errors developing throughout the TEP, and for establishing reliable information about error frequencies and their distribution...
July 8, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28686678/self-reported-hiv-positive-status-but-subsequent-hiv-negative-test-result-using-rapid-diagnostic-testing-algorithms-among-seven-sub-saharan-african-military-populations
#15
Judith Harbertson, Braden R Hale, Bonnie R Tran, Anne G Thomas, Michael P Grillo, Marni B Jacobs, Jennifer McAnany, Richard A Shaffer
HIV rapid diagnostic tests (RDTs) combined in an algorithm are the current standard for HIV diagnosis in many sub-Saharan African countries, and extensive laboratory testing has confirmed HIV RDTs have excellent sensitivity and specificity. However, false-positive RDT algorithm results have been reported due to a variety of factors, such as suboptimal quality assurance procedures and inaccurate interpretation of results. We conducted HIV serosurveys in seven sub-Saharan African military populations and recorded the frequency of personnel self-reporting HIV positivity, but subsequently testing HIV-negative during the serosurvey...
2017: PloS One
https://www.readbyqxmd.com/read/28682834/high-expression-of-yes-activated-protein-1-in-papillary-thyroid-carcinoma-correlates-with-poor-prognosis
#16
Zeming Liu, Wen Zeng, Yusufu Maimaiti, Jie Ming, Yawen Guo, Yan Liu, Chunping Liu, Tao Huang
CONTEXT: The Hippo signal transduction pathway is highly conserved in mammals. It plays a critical role in tissue and organ size by regulating the balance between cell proliferation and apoptosis. However, there have been few reports concerning Yes-activated protein-1 (YAP-1) elevation in papillary thyroid cancer (PTC). OBJECTIVE: The objective of this study was to determine whether YAP-1 expression is a biomarker and high-risk clinicopathologic prognosticator in PTC...
July 4, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28679417/adherence-to-hydroxyurea-health-related-quality-of-life-domains-and-patients-perceptions-of-sickle-cell-disease-and-hydroxyurea-a-cross-sectional-study-in-adolescents-and-young-adults
#17
Sherif M Badawy, Alexis A Thompson, Jin-Shei Lai, Frank J Penedo, Karen Rychlik, Robert I Liem
BACKGROUND: Sickle cell disease (SCD) patients have impaired domains of health-related quality of life (HRQOL). Hydroxyurea is safe and efficacious in SCD; however, adherence is suboptimal, and patients' perceptions are poorly understood amongst adolescents and young adults (AYA). Study objectives were to: (1) examine patients' perceptions of SCD and hydroxyurea; and (2) explore the relationship of their perceptions to clinical characteristics, HRQOL domains and hydroxyurea adherence...
July 5, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28677871/well-leg-compartment-syndrome-after-laparoscopic-low-anterior-resection-for-lower-rectal-cancer-in-the-lithotomy-position-a-case-report
#18
Masaya Nishino, Miho Okano, Junji Kawada, Yongkook Kim, Mami Yamada, Toshimasa Tsujinaka
A 64-year-old man underwent laparoscopic low anterior resection for lower rectal cancer. Because he was overweight (BMI, 28.1 kg/m(2) ) with rich visceral fat and a narrow pelvic cavity, the operation was technically difficult and the operation time was 686 min. Postoperatively, the patient immediately complained of pain and swelling of the left lower limb. Laboratory examination showed that serum creatinine kinase was markedly increased and urine myoglobin was positive on postoperative day 1. He was diagnosed with well-leg compartment syndrome and was transported to the trauma and critical care center for emergency fasciotomy...
July 5, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28676092/host-seeking-activity-of-a-tanzanian-population-of-anopheles-arabiensis-at-an-insecticide-treated-bed-net
#19
Josephine E A Parker, Natalia C Angarita Jaimes, Katherine Gleave, Fabian Mashauri, Mayumi Abe, Jackline Martine, Catherine E Towers, David Towers, Philip J McCall
BACKGROUND: Understanding how mosquitoes respond to long lasting insecticide treated nets (LLINs) is fundamental to sustaining the effectiveness of this essential control tool. We report on studies with a tracking system to investigate behaviour of wild anophelines at an LLIN, in an experimental hut at a rural site in Mwanza, Tanzania. METHODS: Groups of adult female mosquitoes (n = 10 per replicate) reared from larvae of a local population, identified as predominantly (95%) Anopheles arabiensis, were released in the hut...
July 4, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28669587/therapeutic-management-of-crimean-congo-haemorrhagic-fever
#20
Fernando de la Calle-Prieto, Alejandro Martín-Quirós, Elena Trigo, Marta Mora-Rillo, Marta Arsuaga, Marta Díaz-Menéndez, José Ramón Arribas
Crimean-Congo haemorrhagic fever has been reported in more than 30 countries in Africa, Asia, the Middle East and Eastern Europe, with an increasing incidence in recent years, especially in Europe. Because no specific treatments have demonstrated efficacy, supportive treatment is essential, as well as the provision of a centre with the appropriate means to guarantee the safety of its healthcare professionals. Laboratory monitoring of thrombocytopenia, severe coagulopathy or liver failure is of critical importance...
June 29, 2017: Enfermedades Infecciosas y Microbiología Clínica
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