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https://www.readbyqxmd.com/read/28225307/17a-hydroxylase-17-20-lyase-deficiency-clinical-and-molecular-characterization-of-eight-chinese-patients
#1
Chaoming Wu, Shanshan Fan, Yanying Qian, Yingying Zhou, Jian Jin, Zhijuan Dai, Ling Jiang
BACKGROUND: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in CYP17A1 gene. OBJECTIVE: To better understand 17OHD, a rare disease, we described the clinical features and analyzed the CYP17A1 gene in eight affected Chinese patients. METHODS: Patients with complete (7/8) or partial (1/8) 17OHD were derived from six families. The diagnosis was established according to their clinical, biochemical, hormonal and radiological characteristics...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28222699/suspicion-of-respiratory-tract-infection-with-multidrug-resistant-enterobacteriaceae-epidemiology-and-risk-factors-from-a-paediatric-intensive-care-unit
#2
Hanna Renk, Lenja Stoll, Felix Neunhoeffer, Florian Hölzl, Matthias Kumpf, Michael Hofbeck, Dominik Hartl
BACKGROUND: Multidrug-resistant (MDR) infections are a serious concern for children admitted to the Paediatric Intensive Care Unit (PICU). Tracheal colonization with MDR Enterobacteriaceae predisposes to respiratory infection, but underlying risk factors are poorly understood. This study aims to determine the incidence of children with suspected infection during mechanical ventilation and analyses risk factors for the finding of MDR Enterobacteriaceae in tracheal aspirates. METHODS: A retrospective single-centre analysis of Enterobacteriaceae isolates from the lower respiratory tract of ventilated PICU patients from 2005 to 2014 was performed...
February 21, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28220959/evaluating-clinical-dietary-and-psychological-risk-factors-for-relapse-of-ulcerative-colitis-in-clinical-endoscopic-and-histological-remission
#3
Rajan Dhingra, Saurabh Kedia, Pratap Mouli Venigalla, Sushil Kumar, Namrata Singh, Sawan Bopanna, Vikas Singla, Bikash Narayan Choudhury, Prashant Verma, Veena Tiwari, Siddhartha Datta Gupta, Govind Makharia, Vineet Ahuja
BACKGROUND: The literature on possible factors that could trigger a relapse in patients with ulcerative colitis (UC) in clinical, endoscopic and histological remission on long term follow up is scarce. AIM: To determine the relapse rate in patients with UC in clinical, endoscopic and histological remission and identify factors that may influence the risk of relapse. METHODS: Patients with UC in clinical, endoscopic and histological remission were enrolled between January-July 2010 and followed up for 1 year to determine the effect of clinical, dietary and psychological factors on relapse...
February 21, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28215937/long-term-treatment-with-evolocumab-added-to-conventional-drug-therapy-with-or-without-apheresis-in-patients-with-homozygous-familial-hypercholesterolaemia-an-interim-subset-analysis-of-the-open-label-taussig-study
#4
Frederick J Raal, G Kees Hovingh, Dirk Blom, Raul D Santos, Mariko Harada-Shiba, Eric Bruckert, Patrick Couture, Handrean Soran, Gerald F Watts, Christopher Kurtz, Narimon Honarpour, Lihua Tang, Sree Kasichayanula, Scott M Wasserman, Evan A Stein
BACKGROUND: Homozygous familial hypercholesterolaemia is a genetic disorder characterised by substantially raised LDL cholesterol, reduced LDL receptor function, xanthomas, and cardiovascular disease before age 20 years. Conventional therapy is with statins, ezetimibe, and apheresis. We aimed to assess the long-term safety and efficacy of the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an open-label, non-randomised phase 3 trial...
February 16, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28214925/missed-opportunities-in-neonatal-deaths-in-rwanda-applying-the-three-delays-model-in-a-cross-sectional-analysis-of-neonatal-death
#5
Efua Wilmot, Marcel Yotebieng, Alison Norris, Fidele Ngabo
Objective Administered in a timely manner, current evidence-based interventions could reduce neonatal deaths from infections, intrapartum injuries and complications due to prematurity. The three delays model (delay in seeking care, in arriving at a health facility, and in receiving adequate care), which has been applied to understanding maternal deaths, may be useful for understanding neonatal deaths. We assess the main causes of neonatal deaths in Rwanda and their associated delays. Methods Using a cross-sectional study design, we evaluated data from 2012 from 40 facilities in which babies were delivered...
February 18, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28213960/association-of-rhinovirus-with-exacerbations-in-young-children-affected-by-cystic-fibrosis-preliminary-data
#6
Sacha Stelzer-Braid, Nancy Liu, Michael Doumit, Russell D'Cunha, Yvonne Belessis, Adam Jaffe, William D Rawlinson
Rhinovirus (RV) is a common respiratory viral infection linked to worsening of chronic respiratory diseases including cystic fibrosis (CF) and asthma. RV was tested by RT-PCR in samples (n = 465) collected from the upper (nasal swab, oropharyngeal suction and sputum) and lower (bronchoalveolar washings) respiratory tract of 110 children with CF. Air samples (n = 52) collected from the operating theatres and outpatient clinics were tested for RV. RV was found in 43% of children <5 years suffering an exacerbation, and 12% of older children (5-17 years)...
February 18, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28213342/virtual-visits-for-acute-nonurgent-care-a-claims-analysis-of-episode-level-utilization
#7
Aliza S Gordon, Wallace C Adamson, Andrea R DeVries
BACKGROUND: Expansion of virtual health care-real-time video consultation with a physician via the Internet-will continue as use of mobile devices and patient demand for immediate, convenient access to care grow. OBJECTIVE: The objective of the study is to analyze the care provided and the cost of virtual visits over a 3-week episode compared with in-person visits to retail health clinics (RHC), urgent care centers (UCC), emergency departments (ED), or primary care physicians (PCP) for acute, nonurgent conditions...
February 17, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28209290/efficacy-safety-and-pharmacokinetics-of-biosimilars-of-anti-tumor-necrosis-factor-%C3%AE-agents-in-rheumatic-diseases-a-systematic-review-and-meta-analysis
#8
REVIEW
Yuga Komaki, Akihiro Yamada, Fukiko Komaki, Praneeth Kudaravalli, Dejan Micic, Akio Ido, Atsushi Sakuraba
OBJECTIVE: To evaluate the efficacy and safety of biosimilars of anti-tumor necrosis factor (TNF)-α agents compared to their reference agents in immune mediated diseases. METHODS: Electronic databases were searched for randomized controlled trials (RCTs) assessing the efficacy and safety of biosimilars of anti-TNF-α agents compared to their reference agents in patients with various immune mediated diseases. The outcomes were the rates of clinical response and adverse events among patients treated with biosimilars compared to their reference agents...
February 13, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28208970/isolated-hypoplasia-of-left-pulmonary-artery-with-agenesis-of-left-lobe-of-thyroid-a-case-report
#9
Mohammed Abdul Khadir, Ganesh Narayana, Ganavi Ramagopal, Pradeep G Nayar
Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208857/emergence-of-hospital-acquired-carbapenem-resistant-non-fermenters-in-teaching-institute
#10
Hariom Sharan, Neeraj Katare, Aparna Pandey, Ganesh Shivmurti Bhatambare, Trupti Bajpai
INTRODUCTION: Non-Fermenting Gram Negative Bacilli (NFGNB) are emerging now-a-days because of their tendency to colonize various surfaces and inherent resistance to commonly used disinfectants. They are responsible for multi-drug resistant hospital acquired infections. Detection of carbapenem resistance mechanisms is essential for treatment and infection control purpose as can spread to other organisms causing hospital outbreaks. AIM: To characterize non-fermenters from various clinical samples and to detect different carbapenem resistance mechanisms in meropenem resistant isolates...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28206909/a-highly-pathogenic-avian-derived-influenza-virus-h5n1-with-2009-pandemic-h1n1-internal-genes-demonstrates-increased-replication-and-transmission-in-pigs
#11
Eugenio J Abente, Pravina Kitikoon, Kelly M Lager, Phillip C Gauger, Tavis K Anderson, Amy L Vincent
This study investigated the pathogenicity and transmissibility of a reverse-genetics-derived highly pathogenic avian influenza (HPAI) H5N1 lineage influenza A virus that was isolated from a human, A/Iraq/755/06. We also examined surface gene reassortant viruses composed of the haemagglutinin and neuraminidase from A/Iraq/755/06 and the internal genes of a 2009 pandemic H1N1 virus, A/New York/18/2009 (2Iraq/06 : 6NY/09 H5N1), and haemagglutinin and neuraminidase from A/New York/18/2009 with the internal genes of A/Iraq/755/06 (2NY/09 : 6Iraq/06 H1N1)...
January 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28197791/clinical-manifestations-and-genetic-analysis-of-17-patients-with-autosomal-dominant-hyper-ige-syndrome-in-mainland-china-new-reports-and-a-literature-review
#12
Jing Wu, Ji Chen, Zhi-Qing Tian, Hao Zhang, Ruo-Lan Gong, Tong-Xin Chen, Li Hong
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency disease (PID). Signal transducer and activator of transcription 3 (STAT3) gene mutation is found to cause AD-HIES. The distribution of AD-HIES patients with STAT3 deficiency in the Chinese population is not clear. Herein, we retrospectively report 17 AD-HIES patients with STAT3 deficiency and demonstrate their clinical, immunological, and genetic features. METHODS: Patients' clinical data were collected from their medical records...
February 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28194013/potent-single-domain-antibodies-that-arrest-respiratory-syncytial-virus-fusion-protein-in-its-prefusion-state
#13
Iebe Rossey, Morgan S A Gilman, Stephanie C Kabeche, Koen Sedeyn, Daniel Wrapp, Masaru Kanekiyo, Man Chen, Vicente Mas, Jan Spitaels, José A Melero, Barney S Graham, Bert Schepens, Jason S McLellan, Xavier Saelens
Human respiratory syncytial virus (RSV) is the main cause of lower respiratory tract infections in young children. The RSV fusion protein (F) is highly conserved and is the only viral membrane protein that is essential for infection. The prefusion conformation of RSV F is considered the most relevant target for antiviral strategies because it is the fusion-competent form of the protein and the primary target of neutralizing activity present in human serum. Here, we describe two llama-derived single-domain antibodies (VHHs) that have potent RSV-neutralizing activity and bind selectively to prefusion RSV F with picomolar affinity...
February 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/28193258/antibiotic-use-practices-of-pharmacy-staff-a-cross-sectional-study-in-saint-petersburg-the-russian-federation
#14
Tatiana Belkina, Natalia Duvanova, Julia Karbovskaja, Jurjen Duintjer Tebbens, Jiri Vlcek
BACKGROUND: Non-prescription access to antimicrobials is common, and self-prescribing is increasingly popular in Russian society. The aim of this study was to assess the attitudes of community pharmacists regarding antibiotic use and self-medication. METHODS: We conducted a cross-sectional study from September-December 2015 of community pharmacists in the Saint-Petersburg and Leningrad region, Russia. A self-administered questionnaire was used to assess antibiotic use and self-medication practices...
February 14, 2017: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28191658/interpatient-mutational-spectrum-of-human-coronavirus-oc43-revealed-by-illumina-sequencing
#15
Geoffrey J Gorse, Gira B Patel, Xiaofeng Fan
Human coronaviruses (HCoV) are RNA viruses that cause respiratory tract infections with viral replication of limited duration. The host and viral population heterogeneity could influence clinical phenotypes. Employing long RT-PCR with Illumina sequencing, we quantified the gene mutation load at 0.5% mutation frequency for the 4,529 bp-domain spanning the Spike gene (4,086 bp) of HCoV-OC43 in four upper respiratory clinical specimens obtained during acute illness. There were a total of 121 mutations for all four HCoV samples with the average number of mutations at 30...
February 12, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28183847/human-rhinovirus-detection-in-the-lower-respiratory-tract-of-hematopoietic-cell-transplant-recipients-association-with-mortality
#16
Sachiko Seo, Alpana Waghmare, Emily M Scott, Hu Xie, Jane M Kuypers, Robert C Hackman, Angela P Campbell, Su-Mi Choi, Wendy M Leisenring, Keith R Jerome, Janet A Englund, Michael Boeckh
Human rhinoviruses are the most common respiratory viruses detected in patients after hematopoietic cell transplantation. Although rhinovirus appears to occasionally cause severe lower respiratory tract infection in immunocompromised patients, the clinical significance of rhinovirus detection in the lower respiratory tract remains unknown. We evaluated 697 recipients transplanted between 1993 and 2015 with rhinovirus in respiratory samples. As comparative cohorts, 273 recipients with lower respiratory tract infection caused by respiratory syncytial virus (N=117), parainfluenza virus (N=120), or influenza (N=36) were analyzed...
February 9, 2017: Haematologica
https://www.readbyqxmd.com/read/28180024/ciliopathies-genetics-in-pediatric-medicine
#17
REVIEW
Machteld M Oud, Ideke J C Lamers, Heleen H Arts
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28178369/burden-of-human-metapneumovirus-infections-in-patients-with-cancer-risk-factors-and-outcomes
#18
Firas El Chaer, Dimpy P Shah, Joumana Kmeid, Ella J Ariza-Heredia, Chitra M Hosing, Victor E Mulanovich, Roy F Chemaly
BACKGROUND: Human metapneumovirus (hMPV) causes upper and lower respiratory tract infections (URIs and LRIs, respectively) in healthy and immunocompromised patients; however, its clinical burden in patients with cancer remains unknown. METHODS: In a retrospective study of all laboratory-confirmed hMPV infections treated at the authors' institution between April 2012 and May 2015, clinical characteristics, risk factors for progression to an LRI, treatment, and outcomes in patients with cancer were determined...
February 8, 2017: Cancer
https://www.readbyqxmd.com/read/28174630/mounier-kuhn-syndrome-a-case-of-tracheal-smooth-muscle-remodeling
#19
Daniel P Cook, Ryan J Adam, Mahmoud H Abou Alaiwa, Michael Eberlein, Julia A Klesney-Tait, Kalpaj R Parekh, David K Meyerholz, David A Stoltz
Mounier-Kuhn syndrome is a rare clinical disorder characterized by tracheobronchial dilation and recurrent lower respiratory tract infections. While the etiology of the disease remains unknown, histopathological analysis of Mounier-Kuhn airways demonstrates that the disease is, in part, characterized by cellular changes in airway smooth muscle.
February 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28173654/-clinical-value-of-a-rapid-respiratory-syncytial-virus-antigen-detection-in-point-of-care-testing
#20
Y X Ding, R Tian, Y Qian, Y Sun, J Deng, F Wang, R N Zhu, L Q Zhao
Objective: To evaluate the clinical value of a rapid respiratory syncytial virus (RSV) antigen detection in point-of-care testing (POCT). Method: A total of 209 specimens, including 78 throat swabs (TS) and 131 nasopharyngeal aspirates (NPAs), were collected from inpatients who visited the Children's Hospital Affiliated to the Capital Institute of Pediatrics and were diagnosed as acute respiratory infection from 5 January to 7 February, 2015. These specimens were tested for RSV by a rapid antigen detection kit which was compared with reverse transcription polymerase chain reaction (RT-PCR) and direct immunofluorescence assay (DFA) for RSV detection...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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