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https://www.readbyqxmd.com/read/28732364/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#1
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732180/the-role-of-noncoding-genetic-variation-in-isolated-orofacial-clefts
#2
F Thieme, K U Ludwig
In the past decade, medical genetic research has generated multiple discoveries, many of which were obtained via genome-wide association studies (GWASs). A major GWAS finding is that the majority of risk variants for complex traits map to noncoding regions. This has resulted in a paradigm shift in terms of the interpretation of human genomic sequence variation, with more attention now being paid to what was previously termed "junk DNA." Translation of genetic findings into biologically meaningful results requires 1) large-scale and cell-specific efforts to annotate non-protein-coding regions and 2) the integration of comprehensive genomic data sets...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28730896/cannabinoid-hyperemesis-syndrome-potential-mechanisms-for-the-benefit-of-capsaicin-and-hot-water-hydrotherapy-in-treatment
#3
John R Richards, Jeff M Lapoint, Guillermo Burillo-Putze
INTRODUCTION: Cannabinoid hyperemesis syndrome is a clinical disorder that has become more prevalent with increasing use of cannabis and synthetic cannabinoids, and which is difficult to treat. Standard antiemetics commonly fail to alleviate the severe nausea and vomiting characteristic of the syndrome. Curiously, cannabinoid hyperemesis syndrome patients often report dramatic relief of symptoms with hot showers and baths, and topical capsaicin. OBJECTIVES: In this review, we detail the pharmacokinetics and pharmacodynamics of capsaicin and explore possible mechanisms for its beneficial effect, including activation of transient receptor potential vanilloid 1 and neurohumoral regulation...
July 21, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28730644/fungiscope-%C3%A2-global-emerging-fungal-infection-registry
#4
Danila Seidel, Luisa A Durán Graeff, Maria J G T Vehreschild, Hilmar Wisplinghoff, Maren Ziegler, J Janne Vehreschild, Blasius Liss, Axel Hamprecht, Philipp Köhler, Zdenek Racil, Nikolay Klimko, Donald C Sheppard, Raoul Herbrecht, Anuradha Chowdhary, Oliver A Cornely, FungiScope Group
Rare invasive fungal diseases (IFD) are challenging for the treating physicians because of their unspecific clinical presentation, as well as the lack of standardised diagnostic and effective treatment strategies. Late onset of treatment and inappropriate medication is associated with high mortality, thus, urging the need for a better understanding of these diseases. The purpose of FungiScope(™) is to continuously collect clinical information and specimens to improve the knowledge on epidemiology and eventually improve patient management of these orphan diseases...
August 2017: Mycoses
https://www.readbyqxmd.com/read/28730245/unusual-triple-combination-of-prostate-lung-and-skin-cancer
#5
Ioana Andreea Gheonea, Cristiana Gabriela Popp, Elena Tatiana Ivan, Dan IonuŢ Gheonea
Multiple malignancies are an increasing combination in the recent years in cancer patients, due to prolonged survival rate and to the advances in diagnostic techniques and therapeutic management. We present the case of a patient diagnosed with prostate cancer and metachronous in one year with basal cell carcinoma of the skin and small lung cell carcinoma with lymph nodes and pararectal metastasis. To our best knowledge, this is the only case presented in the medical literature with these three different types of primary malignancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729909/biological-effects-and-mechanisms-of-shortwave-radiation-a-review
#6
REVIEW
Chao Yu, Rui-Yun Peng
With the increasing knowledge of shortwave radiation, it is widely used in wireless communications, radar observations, industrial manufacturing, and medical treatments. Despite of the benefits from shortwave, these wide applications expose humans to the risk of shortwave electromagnetic radiation, which is alleged to cause potential damage to biological systems. This review focused on the exposure to shortwave electromagnetic radiation, considering in vitro, in vivo and epidemiological results that have provided insight into the biological effects and mechanisms of shortwave...
2017: Military Medical Research
https://www.readbyqxmd.com/read/28729710/learning-a-health-knowledge-graph-from-electronic-medical-records
#7
Maya Rotmensch, Yoni Halpern, Abdulhakim Tlimat, Steven Horng, David Sontag
Demand for clinical decision support systems in medicine and self-diagnostic symptom checkers has substantially increased in recent years. Existing platforms rely on knowledge bases manually compiled through a labor-intensive process or automatically derived using simple pairwise statistics. This study explored an automated process to learn high quality knowledge bases linking diseases and symptoms directly from electronic medical records. Medical concepts were extracted from 273,174 de-identified patient records and maximum likelihood estimation of three probabilistic models was used to automatically construct knowledge graphs: logistic regression, naive Bayes classifier and a Bayesian network using noisy OR gates...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729620/self-management-behaviour-and-support-among-primary-care-copd-patients-cross-sectional-analysis-of-data-from-the-birmingham-chronic-obstructive-pulmonary-disease-cohort
#8
Ainee Khan, Andrew P Dickens, Peymane Adab, Rachel E Jordan
Self-management support for chronic obstructive pulmonary disease (COPD) patients is recommended by UK national guidelines, but extent of implementation is unknown. We aimed to describe self-management behaviour and support among COPD patients and explore behaviour associated with having a self-management plan. We undertook cross-sectional analysis of self-reported data from diagnosed COPD patients in the Birmingham COPD Cohort study. Questionnaire items relevant to self-management behaviour, knowledge of COPD, receipt of self-management plans and advice from healthcare professionals were examined...
July 20, 2017: NPJ Primary Care Respiratory Medicine
https://www.readbyqxmd.com/read/28729406/tumor-evolution-as-a-therapeutic-target
#9
REVIEW
Nabil Amirouchene-Angelozzi, Charles Swanton, Alberto Bardelli
Recent technological advances in the field of molecular diagnostics (including blood-based tumor genotyping) allow the measurement of clonal evolution in patients with cancer, thus adding a new dimension to precision medicine: time. The translation of this new knowledge into clinical benefit implies rethinking therapeutic strategies. In essence, it means considering as a target not only individual oncogenes but also the evolving nature of human tumors. Here, we analyze the limitations of targeted therapies and propose approaches for treatment within an evolutionary framework...
July 20, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28729305/biomechanical-reposition-techniques-in-anterior-shoulder-dislocation-a-randomised-multicentre-clinical-trial-the-brasd-trial-protocol
#10
David N Baden, Martijn H Roetman, Tom Boeije, Floris Roodheuvel, Nieke Mullaart-Jansen, Suzanne Peeters, Mike D Burg
INTRODUCTION: Glenohumeral (shoulder) dislocations are the most common large joint dislocations seen in the emergency department (ED). They cause pain, often severe, and require timely interventions to minimise discomfort and tissue damage. Commonly used reposition or relocation techniques often involve traction and/or leverage. These techniques have high success rates but may be painful and time consuming. They may also cause complications. Recently, other techniques-the biomechanical reposition techniques (BRTs)-have become more popular since they may cause less pain, require less time and cause fewer complications...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28729228/tangled-history-of-the-european-uses-of-sphagnum-moss-and-sphagnol
#11
REVIEW
Jacek Drobnik, Adam Stebel
ETHNOPHARMACOLOGICAL RELEVANCE: Sphagnum mosses and peat could have been utilized as wound dressings for centuries, however reliable data on this subject are ambiguous; sometimes even no distinction between peat moss (Sphagnum spp.) and peat is made or these terms become confused. The first scientific account on surgical use of peat comes from 1882: a peat digger who successfully, by himself and in the way unknown to the then medicine, cured an open fracture of his forearm with peat. The peat, and very soon the peat moss itself (which is the major constituent of peat) drew attention of the 19(th)-century surgeons...
July 17, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28728922/existing-reporting-guidelines-for-clinical-trials-are-not-completely-relevant-for-implantable-medical-devices-a-systematic-review
#12
REVIEW
Anne-France Motte, Stéphanie Diallo, Hélène van den Brink, Constance Châteauvieux, Carole Serrano, Carole Naud, Julie Steelandt, Jean-Marc Alsac, Pierre Aubry, Florence Cour, Olivier Pellerin, Judith Pineau, Patrice Prognon, Isabelle Borget, Brigitte Bonan, Nicolas Martelli
OBJECTIVE: The aim of this study was to determine relevant items for reporting clinical trials on implantable medical devices and to identify reporting guidelines which include these items. STUDY DESIGN AND SETTING: A panel of experts identified the most relevant items for evaluating implantable medical devices from an initial list based on reference papers. We then conducted a systematic review of articles indexed in MEDLINE. We retrieved reporting guidelines from the EQUATOR network's library for health research reporting...
July 17, 2017: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/28728560/patient-oriented-education-and-medication-management-intervention-for-people-with-decompensated-cirrhosis-study-protocol-for-a-randomized-controlled-trial
#13
Kelly L Hayward, Jennifer H Martin, W Neil Cottrell, Antara Karmakar, Leigh U Horsfall, Preya J Patel, David D Smith, Katharine M Irvine, Elizabeth E Powell, Patricia C Valery
BACKGROUND: People with decompensated cirrhosis require complex medical care and are often prescribed an intricate and frequently changing medication and lifestyle regimen. However, many patients mismanage their medications or have poor comprehension of their disease and self-management tasks. This can lead to harm, hospitalization, and death. METHODS/DESIGN: A patient-oriented education and medication management intervention has been developed for implementation at a tertiary hospital hepatology outpatient center in Queensland, Australia...
July 20, 2017: Trials
https://www.readbyqxmd.com/read/28728103/freiberg-s-infraction-a-modified-closing-wedge-osteotomy-for-an-undiagnosed-case
#14
Carlo Biz, Alessandro Zornetta, Ilaria Fantoni, Alberto Crimì, Enrico Bordignon, P Ruggieri
INTRODUCTION: Freiberg's infraction is an osteonecrosis affecting the metatarsal head whose pathogenesis is not fully understood, although stress overloading by multiple microtraumas remains the most widely accepted cause. Operative treatment, by different techniques, is necessary when conservative treatment fails. PRESENTATION OF CASE: A 31-year old woman presented with left foot severe pain, especially at the level of the metatarsophalangeal joint (MTPJ) of the second ray, underestimated upon initial evaluation...
July 10, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28727636/a-comparison-of-robotic-versus-laparoscopic-adrenalectomy-in-patients-with-primary-hyperaldosteronism
#15
Jennifer Colvin, Vikram Krishnamurthy, Judy Jin, Joyce Shin, Allan Siperstein, Eren Berber
BACKGROUND: Over the last decade, robotic approaches have been described for removing adrenal tumors. Although there are reports comparing robotic and laparoscopic techniques in general, there are limited data on outcomes in patients with primary hyperaldosteronism (PHA). The aim of this study is to compare the safety and efficacy of robotic adrenalectomy (RA) versus laparoscopic adrenalectomy (LA) for PHA. MATERIALS AND METHODS: The records of 20 patients who underwent RA for PHA were compared with 16 patients who underwent LA between 2000 and 2014...
July 19, 2017: Surgical Laparoscopy, Endoscopy & Percutaneous Techniques
https://www.readbyqxmd.com/read/28726811/knowledge-base-and-mini-expert-platform-for-the-diagnosis-of-inborn-errors-of-metabolism
#16
Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, Clara D M van Karnebeek, Nenad Blau
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of highly specialized experts to professionals involved in early diagnoses. We introduce IEMbase, an online expert-curated IEM knowledge base combined with a prototype diagnosis support (mini-expert) system.MethodsDisease-characterizing profiles of specific biochemical markers and clinical symptoms were extracted from an expert-compiled IEM database...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726587/repair-of-tympanic-membrane-perforations-with-customized-bioprinted-ear-grafts-using-chinchilla-models
#17
Che-Ying Kuo, Emmanuel Wilson, Andrew Fuson, Nidhi Gandhi, Reza Monfaredi, Audrey Jenkins, Maria Romero, Marco Santoro, John P Fisher, Kevin Cleary, Brian Reilly
The goal of this work is to develop an innovative method that combines bioprinting and endoscopic imaging to repair tympanic membrane perforations (TMPs). TMPs are a serious health issue because they can lead to both conductive hearing loss and repeated otitis media. TMPs occur in 3 to 5% of cases after ear tube placement as well as in cases of acute otitis media (the second most common infection in pediatrics), chronic otitis media with or without cholesteatoma, or as a result of barotrauma to the ear. About 55,000 tympanoplasties, the surgery performed to reconstruct TMPs, are performed every year and the commonly used cartilage grafting technique has a success rate between 43% to 100%...
July 20, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28726346/imaging-characteristics-and-treatment-of-a-penetrating-brain-injury-caused-by-an-oropharyngeal-foreign-body-in-a-dog
#18
Jennifer McKenzie, Megan Cooper Murphy, Cameron Broome, Hamaseh Tayari, Rodrigo Gutierrez-Quintana
A 4-year-old Border collie was presented with one episode of collapse, altered mentation, and a suspected pharyngeal stick injury. Magnetic resonance imaging (MRI) and computed tomography showed a linear foreign body penetrating the right oropharynx, through the foramen ovale and the brain parenchyma. The foreign body was surgically removed and medical treatment initiated. Complete resolution of clinical signs was noted at recheck 8 weeks later. Repeat MRI showed chronic secondary changes in the brain parenchyma...
July 20, 2017: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/28725921/-parkinson-s-disease-in-the-elderly
#19
Rüdiger Lange, Frank Erbguth
Due to the increasing life expectancy and a higher incidence in the elderly, the number of elderly patients with idiopathic Parkinson's disease will increase in the coming years. Since the burden of comorbidities is higher and medication side effects are more likely in the elderly, particularly in the light of frequently occurring polypharmacy, increased awareness and therapeutic knowledge is necessary. Besides the therapy of motor symptoms, non-motor symptoms, e. g. neuropsychiatric and autonomic disorders, also need to be addressed as they can also greatly impair the quality of life...
July 19, 2017: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/28725792/entrustable-professional-activities-for-pathology-recommendations-from-the-college-of-american-pathologists-graduate-medical-education-committee
#20
Cindy B McCloskey, Ronald E Domen, Richard M Conran, Robert D Hoffman, Miriam D Post, Mark D Brissette, Dita A Gratzinger, Patricia M Raciti, David A Cohen, Cory A Roberts, Amyn M Rojiani, Christina S Kong, Jo Elle G Peterson, Kristen Johnson, Sue Plath, Suzanne Zein-Eldin Powell
Competency-based medical education has evolved over the past decades to include the Accreditation Council for Graduate Medical Education Accreditation System of resident evaluation based on the Milestones project. Entrustable professional activities represent another means to determine learner proficiency and evaluate educational outcomes in the workplace and training environment. The objective of this project was to develop entrustable professional activities for pathology graduate medical education encompassing primary anatomic and clinical pathology residency training...
January 2017: Acad Pathol
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