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D Vardakostas, C Damaskos, N Garmpis, E A Antoniou, K Kontzoglou, G Kouraklis, D Dimitroulis
OBJECTIVE: Liver cysts are divided into congenital and acquired. Congenital cystic lesions include polycystic liver disease, simple cysts, duct related and ciliated hepatic foregut cysts. Acquired cystic lesions are divided into infectious and non-infectious. The infectious cysts are the hydatid cyst, the amoebic abscess, and the pyogenic abscess, whereas the non-infectious cysts are neoplastic cysts and false cysts. While modern medicine provides a lot of minimally invasive therapeutic modalities, there has emerged a pressing need for understanding the various types of liver cysts, the possible minimal therapeutic options along with their indications and complications...
March 2018: European Review for Medical and Pharmacological Sciences
Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon, Michael J Gambello, James B Gibson, Richard Hillman, David W Stockton, John W Day, Raymond Y Wang, Kristina An Haack, Raheel Shafi, Susan Sparks, Yang Zhao, Catherine Wilson, Priya S Kishnani
PurposePompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. NCT01526785 evaluated 4,000 L rhGAA efficacy/safety in US infantile- or late-onset Pompe disease (IOPD, LOPD) patients up to 1 year old transitioned from 160 L rhGAA...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Kurt D Christensen, Jason L Vassy, Kathryn A Phillips, Carrie L Blout, Danielle R Azzariti, Christine Y Lu, Jill O Robinson, Kaitlyn Lee, Michael P Douglas, Jennifer M Yeh, Kalotina Machini, Natasha K Stout, Heidi L Rehm, Amy L McGuire, Robert C Green, Dmitry Dukhovny
PurposeGreat uncertainty exists about the costs associated with whole-genome sequencing (WGS).MethodsOne hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, Debra Frost, Angela F Brady, Claire Miller, Alex Henderson, Alan Donaldson, Alex Murray, Carole Brewer, Caroline Pottinger, D Gareth Evans, Diana Eccles, Fiona Lalloo, Helen Gregory, Jackie Cook, Jacqueline Eason, Julian Adlard, Julian Barwell, Kai Ren Ong, Lisa Walker, Louise Izatt, Lucy E Side, M John Kennedy, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Patrick J Morrison, Ros Eeles, Rosemarie Davidson, Katie Snape, Douglas F Easton, Antonis C Antoniou
PurposeBRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is uncertain. The study aimed to estimate risks of invasive BC and EOC in a large cohort of BRCA1/BRCA2 predictive test negatives.MethodsWe used cohort analysis to estimate incidences, cumulative risks, and standardized incidence ratios (SIRs).ResultsA total of 1,895 unaffected women were eligible for inclusion in the BC risk analysis and 1,736 in the EOC risk analysis...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Stephany Tandy-Connor, Jenna Guiltinan, Kate Krempely, Holly LaDuca, Patrick Reineke, Stephanie Gutierrez, Phillip Gray, Brigette Tippin Davis
PurposeThere is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ahmed Alfares, Taghrid Aloraini, Lamia Al Subaie, Abdulelah Alissa, Ahmed Al Qudsi, Ahmed Alahmad, Fuad Al Mutairi, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Mohammed Albalwi, Saeed Alturki, Majid Alfadhel
PurposeWhole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed.MethodsVariant call format files were generated and raw data analysis was performed in cases in which the final molecular results showed discrepancies. We classified the possible explanations for the discrepancies into three categories: the time interval between the two tests, the technical limitations of WES, and the impact of the sequencing system type...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Nicole Hoppman, Kandelaria Rumilla, Emily Lauer, Hutton Kearney, Erik Thorland
PurposeSingle-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, UPD, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Lynn W Bush, Louis E Bartoshesky, Karen L David, Benjamin Wilfond, Janet L Williams, Ingrid A Holm
Disclaimer: This article is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality patient care. Adherence to the information contained in this article does not necessarily assure a successful medical outcome. This information and any associated recommendations 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. In determining the propriety of any specific procedure or test, each provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S Mowlavi, Emily M Mayerhofer, David Tilstra, Timothy Vedder, Jesse M Hunter, Marilyn Tsang, Lina Gonzalez, Gerald Vockley, Sha Tang
PurposeNeonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES.MethodsThe clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed.ResultsClinical DES identified potentially relevant findings in 25 patients (37...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jonathan D Breeze, Enrico Salvadori, Juna Sathian, Neil McN Alford, Christopher W M Kay
The maser-the microwave progenitor of the optical laser-has been confined to relative obscurity owing to its reliance on cryogenic refrigeration and high-vacuum systems. Despite this, it has found application in deep-space communications and radio astronomy owing to its unparalleled performance as a low-noise amplifier and oscillator. The recent demonstration of a room-temperature solid-state maser that utilizes polarized electron populations within the triplet states of photo-excited pentacene molecules in a p-terphenyl host paves the way for a new class of maser...
March 21, 2018: Nature
Khurul Ain Mohamed Mahzir, Siti Salwa Abd Gani, Uswatun Hasanah Zaidan, Mohd Izuan Effendi Halmi
In this study, the optimal conditions for the extraction of antioxidants from the Buah Mahkota Dewa fruit ( Phaleria macrocarpa) was determined by using Response Surface Methodology (RSM). The optimisation was applied using a Central Composite Design (CCD) to investigate the effect of three independent variables, namely extraction temperature (°C), extraction time (minutes) and extraction solvent to-feed ratio (% v / v ) on four responses: free radical scavenging activity (DPPH), ferric ion reducing power assay (FRAP), total phenolic content (TPC) and total flavonoid content (TFC)...
March 22, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Lancer A Scott, Layne A Madden, Amy E Wahlquist, Daniel W Fisher
Purpose Clinical disaster medicine requires providers working collaboratively to care for multiple patients, yet many clinicians lack competency-based training. A 5-hour emergency preparedness training (EPT) curriculum was created using didactics, small group discussion, and scenario-based learning. The goal was to evaluate the effect of a short course on improving clinical-provider knowledge, confidence and skill. METHODS: Participants were enrolled in a medical university between 2011 and 2014...
February 2018: Disaster Medicine and Public Health Preparedness
Tharangrut Hanprasertpong, Kasem Raungrongmorakot, Alan Geater, Pawin Puapornpong, Wipada Laosooksathit, Aurasa Hemachandra, Maysita Suksamarnwong
Thalassaemia is a common haematologic health condition in Southeast Asian countries (SEA) including Thailand. Reducing the birth of new thalassaemia cases is an effective method to control disease. The background level of knowledge and attitude of pregnant women on the disease influences their decision to perform antenatal screening. Unfortunately, the information about pregnant women's knowledge and attitude on antenatal thalassaemia screening in a developing country such as Thailand is lacking. We therefore conducted this cross-sectional study to examine patients' knowledge and to evaluate the factors which influence the patient's knowledge and attitude on antenatal thalassaemia screening...
March 22, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Gordon B Parker, Erin Cvejic, Ute Vollmer-Conna, Stacey McCraw, Isabelle Granville Smith, Warren F Walsh
OBJECTIVE: Lifetime depression and depression around the time of an acute coronary syndrome event have been associated with poor cardiac outcomes. Our study sought to examine the persistence of this association, especially given modern cardiac medicine's successes. METHODS: For 332 patients admitted for an acute coronary syndrome, a baseline interview assessed major depression status, and psychological measures were administered. At 1 and 12 months post-acute coronary syndrome event, telephone interviews collected rates of hospital readmission and/or death and major depression status, while biomarker information was examined using medical records...
March 1, 2018: Australian and New Zealand Journal of Psychiatry
Ana Paula Trussardi Fayh, Agnes Denise de Lima Bezerra, Rogerio Friedman
INTRODUCTION: Malnutrition in children with cancer is a significant risk factor for negative outcomes, but in the clinical practice setting, it is difficult to pinpoint which factors operate to cause substantial weight loss and malnutrition in a given patient. Appetite-related hormones like ghrelin and leptin are among possible mediators. However, only few studies have examined the role of these hormones in pediatric patients with cancer to date. Thus, the purpose of this study was to systematically review possible changes in the levels of appetite hormones, specially leptin and ghrelin, in pediatric patients with cancer...
January 19, 2018: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
(no author information available yet)
In the context of the White Book of Physical and Rehabilitation Medicine (PRM) in Europe, this paper deals with the future perspectives of PRM in Europe according to the actual vision of the European Bodies. All Chapters stress the big changes that Europe is facing in terms of demography, life expectancy, survival rates, disability burden, increasing prevalence of long-term health conditions, progress in technology, but also health costs and society changes in terms of requirements of wellness and quality of life together with health...
April 2018: European Journal of Physical and Rehabilitation Medicine
(no author information available yet)
In the context of the White Book of Physical and Rehabilitation Medicine (PRM), this paper deals with Research, the future of PRM. PRM students and specialists are mainly involved in biomedical research, investigating the biological processes, the causes of diseases, their medical diagnosis, the evaluation of their consequences on functioning, disability and health and the effects of health interventions at an individual and a societal level. Most of the current PRM research, often interdisciplinary, originates from applied research which, using existing knowledge, is directed towards specific goals...
April 2018: European Journal of Physical and Rehabilitation Medicine
(no author information available yet)
In the context of the White Book of Physical and Rehabilitation Medicine (PRM), this paper deals with the education of PRM physicians in Europe. To acquire the wide field of competence needed, specialists in Physical and Rehabilitation Medicine have to undergo a well organised and appropriately structured training of adequate duration. In fact they are required to develop not only medical knowledge, but also competence in patient care, specific procedural skills, and attitudes towards interpersonal relationship and communication, profound understanding of the main principles of medical ethics and public health, ability to apply policies of care and prevention for disabled people, capacity to master strategies for reintegration of disabled people into society, apply principles of quality assurance and promote a practice-based continuous professional development...
April 2018: European Journal of Physical and Rehabilitation Medicine
(no author information available yet)
In the context of the White Book of Physical and Rehabilitation Medicine (PRM) in Europe, this paper deals with a global overview of the role of PRM in healthcare systems in Europe. Several documents and reports by WHO and the UN call for the worldwide strengthening of rehabilitation as a key health strategy of the 21st century. Therefore, further implementation of PRM in healthcare systems is crucial. Many aspects need to be considered when implementing PRM in a health system. Since PRM should be provided along the whole continuum of care, a specific phase model has been developed...
April 2018: European Journal of Physical and Rehabilitation Medicine
(no author information available yet)
In the context of the White Book on Physical and Rehabilitation Medicine (PRM) in Europe this paper deals with the scope and competencies of PRM starting from its definition as the "medicine of functioning." PRM uses the rehabilitative health strategy as its core strategy together with the curative strategy. According to the complexity of disabling health conditions, PRM also refers to prevention and maintenance and provides information to the patients and other caregivers. The rehabilitation process according to the so-called rehabilitation cycle including an assessment and definition of the (individual) rehabilitation goals, assignment to the rehabilitation program evaluation of individual outcomes...
April 2018: European Journal of Physical and Rehabilitation Medicine
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