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https://www.readbyqxmd.com/read/29456862/thin-laryngeal-foreign-bodies-in-infants-diagnostic-potential-of-mdct
#1
Antonella Concerto, Marco Cavallaro, Carmela Visalli, Anna Maria Bagnato, Ugo Barbaro, Ignazio Salamone
A laryngeal foreign body (FB) is a significant, life-threatening event in the paediatric population. Incomplete airways obstruction by a thin, laminar, radiolucent FB lodged in the glottis or supraglottis is a rare occurrence that may present with non-specific symptoms, absence of chest findings, and normal radiographic investigations, resulting in misdiagnosis, delay in diagnosis, or prolonged recovery. We report two cases of 10-month-old male infants, each with a thin radiolucent FB lodged between the vocal folds that was detected with low-dose multidetector computed tomography (MDCT) and thin-slice reconstruction...
April 2018: Respirology Case Reports
https://www.readbyqxmd.com/read/29454163/exacerbations-in-adults-with-asthma-a-systematic-review-and-external-validation-of-prediction-models
#2
Rik Jb Loymans, Thomas Pa Debray, Persijn J Honkoop, Evelien H Termeer, Jiska B Snoeck-Stroband, Tjard Rj Schermer, Willem Jj Assendelft, Merel Timp, Kian Fan Chung, Ana R Sousa, Jaap K Sont, Peter J Sterk, Helen K Reddel, Gerben Ter Riet
BACKGROUND: Several prediction models assessing future risk of exacerbations in adult patients with asthma have been published. Applicability of these models is uncertain because their predictive performance has often not been assessed beyond the population in which they were derived. OBJECTIVE: This study aimed to identify and critically appraise prediction models for asthma exacerbations and validate them in two clinically distinct populations. METHODS: PubMed and EMBASE were searched to April 2017 for reports describing adult asthma populations in which multivariable models were constructed to predict exacerbations during any time frame...
February 14, 2018: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29453517/probable-diagnosis-of-a-patient-with-niemann-pick-disease-type-c-managing-pitfalls-of-exome-sequencing
#3
William A Zeiger, Nasheed I Jamal, Maren T Scheuner, Patricia Pittman, Kimiyo M Raymond, Massimo Morra, Shri K Mishra
Here, we present a case of a 31-year-old man with progressive cognitive decline, ataxia, and dystonia. Extensive laboratory, radiographic, and targeted genetic studies over the course of several years failed to yield a diagnosis. Initial whole exome sequencing through a commercial laboratory identified several variants of uncertain significance; however, follow-up clinical examination and testing ruled each of these out. Eventually, repeat whole exome sequencing identified a known pathogenic intronic variant in the NPC1 gene (NM_000271...
February 17, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29453510/next-generation-metabolic-screening-targeted-and-untargeted-metabolomics-for-the-diagnosis-of-inborn-errors-of-metabolism-in-individual-patients
#4
Karlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, Udo F H Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J T Kwast, Maartje van de Vorst, Marleen C D G Huigen, Irene M L W Keularts, Michiel F Schreuder, Clara D M van Karnebeek, Saskia B Wortmann, Maaike C de Vries, Mirian C H Janssen, Christian Gilissen, Jasper Engel, Ron A Wevers
The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to analyze a limited amount of metabolites. We now present a single-platform, high-resolution liquid chromatography quadrupole time of flight (LC-QTOF) method that can be applied for holistic metabolic profiling in plasma of individual IEM-suspected patients. This method, which we termed "next-generation metabolic screening" (NGMS), can detect >10,000 features in each sample...
February 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29453384/longitudinal-impact-of-ibs-type-symptoms-on-disease-activity-healthcare-utilization-psychological-health-and-quality-of-life-in-inflammatory-bowel-disease
#5
David J Gracie, P John Hamlin, Alexander C Ford
OBJECTIVES: The impact of irritable bowel syndrome (IBS)-type symptoms on the natural history of inflammatory bowel disease (IBD) is uncertain. We aimed to address this in a longitudinal study of secondary care patients. METHODS: Longitudinal disease activity was defined by disease flare, escalation of medical therapy, hospitalization, or intestinal resection. The number of investigations performed and clinics attended determined healthcare utilization. Psychological well-being and quality of life were assessed using validated questionnaires...
February 16, 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29451665/mirror-therapy-a-potential-intervention-for-pain-management
#6
Priscilla G Wittkopf, Mark I Johnson
The consequences of chronic pain and associated disabilities to the patient and to the health care system are well known. Medication is often the first treatment of choice for chronic pain, although side effects and high costs restrict long-term use. Inexpensive, safe and easy to self-administer non-pharmacological therapies, such as mirror therapy, are recommended as adjuncts to pain treatment. The purpose of this review is to describe the principles of use of mirror therapy so it can be incorporated into a health care delivery...
November 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/29451304/distinct-methylation-profile-of-mucinous-ovarian-carcinoma-reveals-susceptibility-to-proteasome-inhibitors
#7
Phui-Ly Liew, Rui-Lan Huang, Yu-Chun Weng, Chia-Lang Fang, Tim Hui-Ming Huang, Hung-Cheng Lai
Mucinous type of epithelial ovarian cancer (MuOC) is a unique subtype with a poor survival outcome in recurrent and advanced stages. The role of type-specific epigenomics and its clinical significance remain uncertain. We analyzed the methylomic profiles of six benign mucinous adenomas, 24 MuOCs, 103 serous type of epithelial ovarian cancers (SeOCs), and 337 nonepithelial ovarian cancers. MuOC and SeOC exhibited distinct DNA methylation profiles comprising 101 genes, 81 of which exhibited low methylation in MuOC and were associated with the response to glucocorticoid, ATP hydrolysis-coupled proton transport, proteolysis involved in the cellular protein catabolic process, and ion transmembrane transport...
February 16, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29450756/risk-stratification-according-to-the-prognostic-nutritional-index-for-predicting-postoperative-complications-after-lung-cancer-surgery
#8
Satoru Okada, Junichi Shimada, Satoshi Teramukai, Daishiro Kato, Hiroaki Tsunezuka, Naoko Miyata, Shunta Ishihara, Tatsuo Furuya, Chiaki Nakazono, Narumi Ishikawa, Masayoshi Inoue
BACKGROUND: The prognostic nutritional index (PNI), an immune nutritional marker based on serum albumin levels and total lymphocyte count, predicts postoperative complications in various types of malignancies. However, the clinical significance of the PNI for postoperative complications following lung cancer surgery is uncertain. METHODS: Patients with resected non-small cell lung cancer (n = 515) were retrospectively analyzed and the relationship between the preoperative PNI and postoperative complications was evaluated...
February 15, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29449189/adjuvant-chemoradiotherapy-versus-radiotherapy-alone-for-women-with-high-risk-endometrial-cancer-portec-3-final-results-of-an-international-open-label-multicentre-randomised-phase-3-trial
#9
Stephanie M de Boer, Melanie E Powell, Linda Mileshkin, Dionyssios Katsaros, Paul Bessette, Christine Haie-Meder, Petronella B Ottevanger, Jonathan A Ledermann, Pearly Khaw, Alessandro Colombo, Anthony Fyles, Marie-Helene Baron, Ina M Jürgenliemk-Schulz, Henry C Kitchener, Hans W Nijman, Godfrey Wilson, Susan Brooks, Silvestro Carinelli, Diane Provencher, Chantal Hanzen, Ludy C H W Lutgens, Vincent T H B M Smit, Naveena Singh, Viet Do, Romerai D'Amico, Remi A Nout, Amanda Feeney, Karen W Verhoeven-Adema, Hein Putter, Carien L Creutzberg
BACKGROUND: Although women with endometrial cancer generally have a favourable prognosis, those with high-risk disease features are at increased risk of recurrence. The PORTEC-3 trial was initiated to investigate the benefit of adjuvant chemotherapy during and after radiotherapy (chemoradiotherapy) versus pelvic radiotherapy alone for women with high-risk endometrial cancer. METHODS: PORTEC-3 was an open-label, international, randomised, phase 3 trial involving 103 centres in six clinical trials collaborating in the Gynaecological Cancer Intergroup...
February 12, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29448007/dysfunction-of-cd3-cd16-cd56-dim-and-cd3-cd16-cd56-bright-nk-cell-subsets-in-rr-ms-patients
#10
Ilhan Tahrali, Umut Can Kucuksezer, Ayse Altintas, Ugur Uygunoglu, Nilgun Akdeniz, Esin Aktas Cetin, Gunnur Deniz
Multiple sclerosis (MS), is a chronic inflammatory disease of central nervous system with unclear etiology. Relapsing-remitting (RR)-MS is the most frequent subtype of disease. Natural Killer (NK) cells have roles in cytotoxicity and immune regulation by cytokine secretions, with uncertain contribution to MS pathogenesis. This study aimed to explore contribution of NK cells to MS pathogenesis. Percentages of CD3 - CD16 + CD56 + total NK cells, CD3 - CD16 + CD56 dim and CD3 - CD16 - CD56 bright NK cell subsets, NK cytotoxicity and intracellular IFN-γ, IL-10 and IL-22 levels were investigated in patients with RR-MS and clinically isolated syndrome (CIS) as well as healthy subjects...
February 12, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29446570/gratitude-protective-buffering-and-cognitive-dissonance-how-families-respond-to-pediatric-whole-exome-sequencing-in-the-absence-of-actionable-results
#11
Allison Werner-Lin, Lori Zaspel, Mae Carlson, Rebecca Mueller, Sarah A Walser, Ria Desai, Barbara A Bernhardt
Clinical genome and exome sequencing (CGES) may identify variants leading to targeted management of existing conditions. Yet, CGES often fails to identify pathogenic diagnostic variants and introduces uncertainties by detecting variants of uncertain significance (VUS) and secondary findings. This study investigated how families understand findings and adjust their perspectives on CGES. As part of NIH's Clinical Sequencing Exploratory Research Consortium, children were recruited from clinics at the Children's Hospital of Pennsylvania (CHOP) and offered exome sequencing...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29446254/heart-failure-a-weak-link-in-cha-2-ds-2-vasc
#12
Leif Friberg, Lars H Lund
AIMS: In atrial fibrillation, stroke risk is assessed by the CHA 2 DS 2 -VASc score. Heart failure is included in CHA 2 DS 2 -VASc, but the rationale is uncertain. Our objective was to test if heart failure is a risk factor for stroke, independent of other risk factors in CHA 2 DS 2 -VASc. METHODS AND RESULTS: We studied 300 839 patients with atrial fibrillation in the Swedish Patient Register 2005-11. Three definitions of heart failure were used in order to assess the robustness of the results...
February 15, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29446205/surgeon-led-prostate-cancer-lymph-node-staging-pathologic-outcomes-stratified-by-robot-assisted-dissection-templates-and-patient-selection
#13
Muammer Altok, Kara Babaian, Mary F Achim, Grace C Achim, Patricia Troncoso, Surena F Matin, Brian F Chapin, John W Davis
OBJECTIVES: To evaluate the peri-operative, pathologic, and oncologic outcomes from surgeon led pathologic staging of pelvic lymph node metastases at the time of robot-assisted radical prostatectomy (RARP). PATIENTS AND METHODS: Over the 6-year period of 2006-2012, three distinct pelvic lymph node dissection strategies were utilized in chronologic order at a single cancer referral hospital. Strategies were characterized by both a 1) omission of PLND versus inclusion decision threshold, and 2) standard versus extended templates for patients selected for PLND...
February 15, 2018: BJU International
https://www.readbyqxmd.com/read/29444707/percutaneous-transhepatic-vs-endoscopic-retrograde-biliary-drainage-for-suspected-malignant-hilar-obstruction-study-protocol-for-a-randomized-controlled-trial
#14
Firas Al-Kawas, Harry Aslanian, John Baillie, Filip Banovac, Jonathan M Buscaglia, James Buxbaum, Amitabh Chak, Bradford Chong, Gregory A Coté, Peter V Draganov, Kulwinder Dua, Valerie Durkalski, B Joseph Elmunzer, Lydia D Foster, Timothy B Gardner, Brian S Geller, Priya Jamidar, Laith H Jamil, Rajesh N Keswani, Mouen A Khashab, Gabriel D Lang, Ryan Law, David Lichtenstein, Simon K Lo, Sean McCarthy, Silvio Melo, Daniel Mullady, Jose Nieto, J Bayne Selby, Vikesh K Singh, Rebecca L Spitzer, Brian Strife, Paul Tarnaksy, Jason R Taylor, Jeffrey Tokar, Andrew Y Wang, April Williams, Field Willingham, Patrick Yachimski
BACKGROUND: The optimal approach to the drainage of malignant obstruction at the liver hilum remains uncertain. We aim to compare percutaneous transhepatic biliary drainage (PTBD) to endoscopic retrograde cholangiography (ERC) as the first intervention in patients with cholestasis due to suspected malignant hilar obstruction (MHO). METHODS: The INTERCPT trial is a multi-center, comparative effectiveness, randomized, superiority trial of PTBD vs. ERC for decompression of suspected MHO...
February 14, 2018: Trials
https://www.readbyqxmd.com/read/29441759/determinants-used-to-justify-the-strength-of-recommendations-among-korean-clinical-practice-guidelines
#15
Ein Soon Shin, Ji Eun Jang, Ji Yun Yeon, Da Sol Kim, Sung Goo Chang, Yoon Seong Lee
BACKGROUND: A standardized systematic approach to grade evidence and the strength of recommendations is important for guideline users to minimize bias and help interpret the most suitable decisions at the point of care. The study aims to identify and classify determinants used to make judgement for the strength of recommendations among 56 Korean clinical practice guidelines (CPGs), and explore strong recommendations based on low quality of evidence. METHODS: Determinants used in the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach among 34 CPGs which have reported both strength of recommendations and level of evidence were reviewed...
February 19, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29439419/immunoconjugates-for-osteosarcoma-therapy-preclinical-experiences-and-future-perspectives
#16
REVIEW
Daniele Mercatelli, Massimo Bortolotti, Alberto Bazzocchi, Andrea Bolognesi, Letizia Polito
Osteosarcoma (OS) is an aggressive osteoid-producing tumor of mesenchymal origin, which represents the most common primary bone malignancy. It is characterized by a complex and frequently uncertain etiology. The current standard care for high-grade OS treatment is neoadjuvant chemotherapy, followed by surgery and post-operative chemotherapy. In order to ameliorate survival rates of patients, new therapeutic approaches have been evaluated, mainly immunotherapy with antibody-drug conjugates or immunoconjugates...
February 10, 2018: Biomedicines
https://www.readbyqxmd.com/read/29438597/personally-tailored-activities-for-improving-psychosocial-outcomes-for-people-with-dementia-in-long-term-care
#17
REVIEW
Ralph Möhler, Anna Renom, Helena Renom, Gabriele Meyer
BACKGROUND: People with dementia who are being cared for in long-term care settings are often not engaged in meaningful activities. Offering them activities which are tailored to their individual interests and preferences might improve their quality of life and reduce challenging behaviour. OBJECTIVES: ∙ To assess the effects of personally tailored activities on psychosocial outcomes for people with dementia living in long-term care facilities.∙ To describe the components of the interventions...
February 13, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29438575/primary-care-professionals-providing-non-urgent-care-in-hospital-emergency-departments
#18
REVIEW
Daniela Gonçalves-Bradley, Jaspreet K Khangura, Gerd Flodgren, Rafael Perera, Brian H Rowe, Sasha Shepperd
BACKGROUND: In many countries emergency departments (EDs) are facing an increase in demand for services, long waits, and severe crowding. One response to mitigate overcrowding has been to provide primary care services alongside or within hospital EDs for patients with non-urgent problems. However, it is unknown how this impacts the quality of patient care and the utilisation of hospital resources, or if it is cost-effective. This is the first update of the original Cochrane Review published in 2012...
February 13, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29436056/assessing-neuropathic-pain-in-patients-with-low-back-related-leg-pain-comparing-the-paindetect-questionnaire-with-the-2016-neupsig-grading-system
#19
Eivind Hasvik, Anne Julsrud Haugen, Johannes Gjerstad, Lars Grøvle
BACKGROUND: Low back-related leg pain with nerve root involvement is conceptually regarded as a neuropathic condition. However, it is uncertain to what extent patients with this condition can be formally classified with neuropathic pain. METHOD: First, we used the 2016 revision of the IASP Special Interest Group on Neuropathic Pain (NeuPSIG) grading system for neuropathic pain to grade patients suffering from low back-related leg pain and a corresponding disc herniation with either unlikely, possible, probable or definite neuropathic pain...
February 13, 2018: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/29435777/clinical-review-of-the-pharmacogenomics-of-direct-oral-anticoagulants
#20
REVIEW
Andrew S Tseng, Reema D Patel, Heidi E Quist, Adrijana Kekic, Jacob T Maddux, Christopher B Grilli, Fadi E Shamoun
PURPOSE: There is growing interest in the use of pharmacogenomics to optimize the safety and efficacy of anticoagulation therapy. While the pharmacogenomics of warfarin have been well-studied, the pharmacogenomics of direct oral anticoagulants (DOACs) continue to be a fledgling, but growing, field of interest. We present a pertinent clinical review of the present state of research on the pharmacogenomics of DOACs. METHODS AND RESULTS: The present article is a review of pertinent clinical and scientific research on the pharmacogenomics of DOACs between January 2008 and December 2017 using MEDLINE and the United States National Institutes of Health Clinical Trials Registry...
February 13, 2018: Cardiovascular Drugs and Therapy
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