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https://www.readbyqxmd.com/read/29771000/molecular-testing-in-holoprosencephaly
#1
Paul Kruszka, Ariel F Martinez, Maximilian Muenke
Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and/or Sanger sequencing of select genes. The recent increased availability of next-generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29765282/next-generation-sequencing-approach-for-the-diagnosis-of-human-diseases-open-challenges-and-new-opportunities
#2
Chiara Di Resta, Silvia Galbiati, Paola Carrera, Maurizio Ferrari
The rapid evolution and widespread use of next generation sequencing (NGS) in clinical laboratories has allowed an incredible progress in the genetic diagnostics of several inherited disorders. However, the new technologies have brought new challenges. In this review we consider the important issue of NGS data analysis, as well as the interpretation of unknown genetic variants and the management of the incidental findings. Moreover, we focus the attention on the new professional figure of bioinformatics and the new role of medical geneticists in clinical management of patients...
April 2018: EJIFCC
https://www.readbyqxmd.com/read/29761157/a-next-generation-sequencing-primer-how-does-it-work-and-what-can-it-do
#3
REVIEW
Yuriy O Alekseyev, Roghayeh Fazeli, Shi Yang, Raveen Basran, Thomas Maher, Nancy S Miller, Daniel Remick
Next-generation sequencing refers to a high-throughput technology that determines the nucleic acid sequences and identifies variants in a sample. The technology has been introduced into clinical laboratory testing and produces test results for precision medicine. Since next-generation sequencing is relatively new, graduate students, medical students, pathology residents, and other physicians may benefit from a primer to provide a foundation about basic next-generation sequencing methods and applications, as well as specific examples where it has had diagnostic and prognostic utility...
January 2018: Academic pathology
https://www.readbyqxmd.com/read/29754767/preconception-carrier-screening-by-genome-sequencing-results-from-the-clinical-laboratory
#4
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O Dorschner, Deborah A Nickerson, Peggy D Robertson, Gail P Jarvik, Laura M Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F Rope, Jacob Reiss, Tia Kauffman, Marian J Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A B Goddard, C Sue Richards
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29752733/the-difficulty-in-interpreting-gene-expression-profiling-in-bap1-negative-melanocytic-tumors
#5
Andrew S Fischer, Whitney A High
BACKGROUND: BAP1 negative melanocytic tumors were unrecognized in the medical literature until 2011. While the clinical significance of these tumors is poorly understood, there is concern such lesions represent processes in transition, and malignant degeneration is a concern. We investigated use of a 23-gene expression profiling (23-GEP) test for distinction from melanoma with the aim of better characterizing the biologic potential of such tumors. METHODS: Twenty BAP1 negative melanocytic tumors, subjected to 23-GEP (Myriad Genetic Laboratories, Inc...
May 12, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29747366/-a-multicenter-study-of-the-effectiveness-and-safety-of-toric-intraocular-lens-implantation
#6
X D Song, Y S Hao, Y Z Bao, Z H Li, H Zhang, A Y Yu, M S Zhao, Y S Huang, J Fang, Y Liu, N L Wang
Objective: To evaluate the effectiveness and safety of Proming(®)Toric intraocular lens (IOL) in adults with cataract combined with corneal regular astigmatism. Methods: Multicentre, randomized, open and positive parallel controlled clinical study. A total of 121 patients (121 eyes) who had cataract combined with corneal regular astigmatism and met the inclusion criteria were enrolled in 9 hospitals from May 2014 to May 2016. There were 45 males and 76 females and the median age was 71 (42-88) years old. A total of 121 patients (121 eyes) were randomly assigned to the study group and the control group through the Central Randomization System...
May 11, 2018: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29741248/challenges-to-laboratory-hematology-practice-egypt-perspective
#7
REVIEW
S H Rizk
Laboratory hematology is an integral part of all clinical laboratories along the extensive healthcare facilities in Egypt. The aim of this review is to portrait the laboratory hematology practice in Egypt including its unique socioeconomic background, blood disease pattern, education and training, regulatory oversight, and the related challenges. Current practice varies widely between different parts of the healthcare system in terms of the range of tests, applied techniques, workforce experience, and quality of service...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29739679/low-trabecular-bone-score-in-adolescent-female-inpatients-with-anorexia-nervosa
#8
Yael Levy-Shraga, Liana Tripto-Shkolnik, Dana David, Iris Vered, Daniel Stein, Dalit Modan-Moses
BACKGROUND & AIMS: Trabecular bone score (TBS) is an emerging technology that provides information regarding bone microarchitecture. A recent study showed that in healthy girls normal TBS (≥1.35) was achieved within the first year post-menarche. The aims of our study was to assess TBS in adolescents with anorexia nervosa (AN) and to evaluate correlations with clinical, laboratory and densitometric variables. METHODS: A cohort study of 208 adolescent females (mean age 15...
April 26, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29737452/comparison-of-clinical-features-and-prognostic-factors-of-cryptococcal-meningitis-caused-by-cryptococcus-neoformans-in-patients-with-and-without-pulmonary-nodules
#9
Wenhao Cao, Cui Jian, Huojun Zhang, Shuyun Xu
Whether the clinical features of cryptococcal meningitis (CM) patients vary with the coexistence of pulmonary nodules is not clear. This study aimed to compare the clinical features of CM in patients with and without pulmonary nodules detected by chest computed tomography (CT). The medical records of CM patients hospitalized in Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 1, 2010, to December 31, 2016, were retrospectively reviewed. Baseline demographics, laboratory and radiographic findings, clinical managements, and outcomes were analyzed...
May 8, 2018: Mycopathologia
https://www.readbyqxmd.com/read/29730648/metrological-traceability-and-harmonization-of-medical-tests-a-quantum-leap-forward-is-needed-to-keep-pace-with-globalization-and-stringent-ivd-regulations-in-the-21st-century
#10
Christa Cobbaert, Nico Smit, Philippe Gillery
In our efforts to advance the profession and practice of clinical laboratory medicine, strong coordination and collaboration are needed more than ever before. At the dawn of the 21st century, medical laboratories are facing many unmet clinical needs, a technological revolution promising a plethora of better biomarkers, financial constraints, a growing scarcity of well-trained laboratory technicians and a sharply increasing number of International Organization for Standardization guidelines and new regulations to which medical laboratories should comply in order to guarantee safety and effectiveness of medical test results...
May 7, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29726416/use-of-mobile-apps-among-medical-and-nursing-students-in-iran
#11
Abbas Sheikhtaheri, Farzaneh Kermani
Mobile technologies have a positive impact on patient care and cause to improved decision making, reduced medical errors and improved communication in care team. The purpose of this study was to investigate the use of mobile technologies by medical and nursing students and their tendency in future. This study was conducted among 372 medical and nursing students of Tehran University of Medical Science. Respectively, 60.8% and 62.4% of medical and nursing students use smartphone. The most commonly used apps among medical students were medical dictionary, drug apps, medical calculators and anatomical atlases and among nursing students were medical dictionary, anatomical atlases and nursing care guides...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29701690/smart-web-based-platform-to-support-physical-rehabilitation
#12
Yves Rybarczyk, Jan Kleine Deters, Clément Cointe, Danilo Esparza
The enhancement of ubiquitous and pervasive computing brings new perspectives in medical rehabilitation. In that sense, the present study proposes a smart, web-based platform to promote the reeducation of patients after hip replacement surgery. This project focuses on two fundamental aspects in the development of a suitable tele-rehabilitation application, which are: (i) being based on an affordable technology, and (ii) providing the patients with a real-time assessment of the correctness of their movements...
April 26, 2018: Sensors
https://www.readbyqxmd.com/read/29677968/risk-and-disaster-management-from-planning-and-expertise-to-smart-intelligent-and-adaptive-systems
#13
Arriel Benis, Amos Notea, Refael Barkan
"Disaster" means some surprising and misfortunate event. Its definition is broad and relates to complex environments. Medical Informatics approaches, methodologies and systems are used as a part of Disaster and Emergency Management systems. At the Holon Institute of Technology - HIT, Israel, in 2016 a National R&D Center: AFRAN was established to study the disaster's reduction aspects. The Center's designation is to investigate and produce new approaches, methodologies and to offer recommendations in the fields of disaster mitigation, preparedness, response and recovery and to disseminate disaster's knowledge...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29669259/anatomy-learning-from-prosected-cadaveric-specimens-versus-three-dimensional-software-a-comparative-study-of-upper-limb-anatomy
#14
Vasileios Mitrousias, Sokratis E Varitimidis, Michael E Hantes, Konstantinos N Malizos, Dimitrios L Arvanitis, Aristeidis H Zibis
INTRODUCTION: modern, three-dimensional (3D) anatomy software is a promising teaching method, though few studies examine its effectiveness on upper limb and musculoskeletal anatomy learning. The purpose of this study is to investigate which method is associated with a better outcome, as assessed by students' performance on examinations, when comparing learning with prosections to the use of 3D software. MATERIALS AND METHODS: two groups of undergraduate, first-year medical students without previous knowledge of anatomy were compared...
April 15, 2018: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/29667028/a-review-of-commercial-and-medical-grade-physiological-monitoring-devices-for-biofeedback-assisted-quality-of-life-improvement-studies
#15
Pedro Nogueira, Joana Urbano, Luís Paulo Reis, Henrique Lopes Cardoso, Daniel Castro Silva, Ana Paula Rocha, Joaquim Gonçalves, Brígida Mónica Faria
With the rise in wearable technology and "health culture", we are seeing an increasing interest and affordances in studying how to not only prolong life expectancy but also in how to improve individuals' quality of life. On the one hand, this attempts to give meaning to the increasing life expectancy, as living above a certain threshold of pain and lack of autonomy or mobility is both degrading and unfair. On the other hand, it lowers the cost of continuous care, as individuals with high quality of life indexes tend to have lower hospital readmissions or secondary complications, not to mention higher physical and mental health...
April 17, 2018: Journal of Medical Systems
https://www.readbyqxmd.com/read/29666161/implementation-of-the-sepsis-risk-calculator-at-an-academic-birth-hospital
#16
Miren B Dhudasia, Sagori Mukhopadhyay, Karen M Puopolo
BACKGROUND: Multivariate predictive models for estimating the risk of neonatal early-onset sepsis (EOS) are available as a Web-based sepsis risk calculator (SRC) and may reduce the proportion of newborns empirically treated with antibiotics after birth. EOS risk assessment based on such models would require workflow changes at most birth hospitals. METHODS: A multidisciplinary team of obstetric, neonatal, and information technology staff at a large, academic, birth hospital collaborated to implement the SRC...
April 17, 2018: Hospital Pediatrics
https://www.readbyqxmd.com/read/29658382/the-impact-of-digital-technologies-on-point-of-care-diagnostics-in-resource-limited-settings
#17
Natasha Gous, Debrah I Boeras, Ben Cheng, Jeff Takle, Brad Cunningham, Rosanna W Peeling
Simple, rapid tests that can be used at the point-of-care (POC) can improve access to diagnostic services and overall patient management in resource-limited settings where laboratory infrastructure is limited. Implementation of POC tests places tremendous strain on already fragile health systems as the demand for training, supply management and quality assurance are amplified. Digital health has a major role to play in ensuring effective delivery and management of POC testing services. Area covered: The ability to digitise laboratory and POC platforms, including lateral flow rapid diagnostic test results, can standardize the interpretation of results and allows data to be linked to proficiency testing to ensure testing quality, reducing interpretation and transcription errors...
April 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29653249/directing-neuronal-cell-fate-in-vitro-achievements-and-challenges
#18
REVIEW
R J M Riemens, D L van den Hove, M Esteller, R Delgado-Morales
Human pluripotent stem cell (PSC) technology and direct somatic cell reprogramming have opened up a promising new avenue in the field of neuroscience. These recent advances allow researchers to obtain virtually any cell type found in the human brain, making it possible to produce and study functional neurons in laboratory conditions for both scientific and medical purposes. Although distinct approaches have shown to be successful in directing neuronal cell fate in vitro, their refinement and optimization, as well as the search for alternative approaches, remains necessary to help realize the full potential of the eventually derived neuronal populations...
April 10, 2018: Progress in Neurobiology
https://www.readbyqxmd.com/read/29652246/metformin-in-non-diabetic-hyperglycaemia-the-glint-feasibility-rct
#19
Simon J Griffin, M Angelyn Bethel, Rury R Holman, Kamlesh Khunti, Nicholas Wareham, Gwen Brierley, Melanie Davies, Andrew Dymond, Rose Eichenberger, Philip Evans, Alastair Gray, Colin Greaves, Kyla Harrington, Graham Hitman, Greg Irving, Sarah Lessels, Ann Millward, John R Petrie, Martin Rutter, Mike Sampson, Naveed Sattar, Stephen Sharp
BACKGROUND: The treatment of people with diabetes with metformin can reduce cardiovascular disease (CVD) and may reduce the risk of cancer. However, it is unknown whether or not metformin can reduce the risk of these outcomes in people with elevated blood glucose levels below the threshold for diabetes [i.e. non-diabetic hyperglycaemia (NDH)]. OBJECTIVE: To assess the feasibility of the Glucose Lowering In Non-diabetic hyperglycaemia Trial (GLINT) and to estimate the key parameters to inform the design of the full trial...
April 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29650810/-artificial-intelligence-in-drug-discovery
#20
Takeshi Fujiwara, Mayumi Kamada, Yasushi Okuno
According to the increase of data generated from analytical instruments, application of artificial intelligence(AI)technology in medical field is indispensable. In particular, practical application of AI technology is strongly required in "genomic medicine" and "genomic drug discovery" that conduct medical practice and novel drug development based on individual genomic information. In our laboratory, we have been developing a database to integrate genome data and clinical information obtained by clinical genome analysis and a computational support system for clinical interpretation of variants using AI...
April 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
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