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https://www.readbyqxmd.com/read/28545150/total-hip-knee-arthroplasty-in-the-treatment-of-tumor-induced-osteomalacia-patients-more-than-1-year-follow-up
#1
Wei Zhu, Qi Ma, Yanyan Bian, Qianyu Zhuang, Zenan Xia, Jin Jin, Xisheng Weng
BACKGROUND: Tumor-induced osteomalacia (TIO) may result in a better prognosis after complete resection of the causative neoplasm. However, tumors located proximal to the articular surface of the metaphysis remain largely uninvestigated. METHODS: A retrospective study of sixteen patients was undertaken to evaluate treatment of tumors with joint arthroplasty and tumor resection. The bone metabolism index, hip/knee joint function, arthroplasty complications and symptoms were followed up for at least 12 months in each patient...
2017: PloS One
https://www.readbyqxmd.com/read/28545143/haemophilus-parasuis-cytolethal-distending-toxin-induces-cell-cycle-arrest-and-p53-dependent-apoptosis
#2
Gang Li, Hui Niu, Yanhe Zhang, Yanling Li, Fang Xie, Paul R Langford, Siguo Liu, Chunlai Wang
Haemophilus parasuis is the causative agent of Glasser's disease in pigs. Cytolethal distending toxin (CDT) is an important virulence factor of H. parasuis. It is composed of three subunits: CdtA, CdtB and CdtC and all were successfully expressed in soluble form in Escherichia coli when the signal peptides were removed. Purified CdtB had DNase activity, i.e. caused DNA double strand damage, in vitro and in vivo prior to cell arrest and apoptosis. Flow cytometry analysis showed CdtB alone could induce cell cycle arrest and apoptosis in PK-15 porcine kidney and pulmonary alveolar macrophage (PAM) cells, which could be enhanced by CdtA or/and CdtC...
2017: PloS One
https://www.readbyqxmd.com/read/28545002/pd169316-a-specific-p38-inhibitor-shows-antiviral-activity-against-enterovirus71
#3
Zhe Zhang, Busen Wang, Shipo Wu, Yanbo Wen, Xinyi Wang, Xiaohong Song, Jinlong Zhang, Lihua Hou, Wei Chen
Enterovirus71 (EV71) is the major causative agent of hand, foot and mouth disease, which threatens the health of infants and young children. The expression of inflammatory cytokines induced by this viral infection aggravate the illness. Here, we describe the anti-EV71 activity of a specific p38 inhibitor that regulates the p38-MAPK signaling pathway. PD169316 was specifically selected from a MAPK compound library due to its significant inhibitory effect on EV71 replication. PD169316 also reduced EV71-induced apoptosis...
May 22, 2017: Virology
https://www.readbyqxmd.com/read/28544683/comprehensive-genetic-study-of-cystic-fibrosis-in-slovak-patients-in-25-years-of-genetic-diagnostics
#4
Andrea Soltysova, Eva Tothova Tarova, Andrej Ficek, Marian Baldovic, Helena Polakova, Hana Kayserova, Ludevit Kadasi
INTRODUCTION: Cystic fibrosis (CF) has one of the longest histories in hereditary disease molecular diagnostics. However, identification of causative mutations in the CFTR gene is complicated by over two thousand currently identified mutations; with more still being discovered. Knowledge of mutation spectrum may improve effective routine diagnostics and is obligatory in mutation-specific treatment. OBJECTIVES: This study presents comprehensive mutation screening of the CFTR gene; with 275 unrelated, clinically confirmed and treated cystic fibrosis (CF) patients diagnosed in 25 years genetic testing in Slovakia...
May 20, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28544326/haploinsufficiency-of-nr4a2-is-associated-with-a-neurodevelopmental-phenotype-with-prominent-language-impairment
#5
Miriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, Arif B Ekici, André Reis, Christiane Zweier
Non-recurrent deletions in 2q24.1, minimally overlapping two genes, NR4A2 and GPD2, were recently described in individuals with language impairment and behavioral and cognitive symptoms. We herewith report on a female patient with a similar phenotype of severe language and mild cognitive impairment, in whom we identified a de novo deletion covering only NR4A2. NR4A2 encodes a transcription factor highly expressed in brain regions critical for speech and language and implicated in dopaminergic neuronal development...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28543935/neurodegeneration-in-ataxia-telangiectasia-multiple-roles-of-atm-kinase-in-cellular-homeostasis
#6
REVIEW
Kay Rui Choy, Dianne J Watters
Ataxia-Telangiectasia (A-T) is characterized by neuronal degeneration, cancer, diabetes, immune deficiency and increased sensitivity to ionizing radiation. A-T is attributed to the deficiency of the protein kinase coded by the ATM (Ataxia-Telangiectasia Mutated) gene. ATM is a sensor of DNA Double Strand Breaks and signals to cell cycle checkpoints and the DNA repair machinery. ATM phosphorylates numerous substrates and activates many cell-signalling pathways. There has been considerable debate about whether a defective DNA damage response is causative of the neurological aspects of the disease...
May 22, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28543367/successful-treatment-of-methicillin-susceptible-staphylococcus-aureus-osteomyelitis-with-oritavancin
#7
Dino J Delaportas, Sandy J Estrada, Matthew Darmelio
Staphylococcus aureus remains the most common causative pathogen in osteomyelitis. New or alternate therapies are often needed to adequately treat S. aureus infections in patients with drug allergies, treatment failures, or drug interactions. Oritavancin is a novel long-acting lipoglycopeptide approved by the Food and Drug Administration (FDA) in 2014 for the treatment of Acute Bacterial Skin and Skin Structure Infections (ABSSSI). With a terminal half-life of 8 to 10 days, oritavancin dosing regimens with infrequent parenteral administration now exist to treat infectious diseases such as osteomyelitis that would otherwise require daily dosing of intravenous antimicrobials for weeks; however clinical experience is lacking...
May 23, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28542843/next-generation-sequencing-of-a-family-with-a-high-penetrance-of-monoclonal-gammopathies-for-the-identification-of-candidate-risk-alleles
#8
Niccolo Bolli, Matteo Barcella, Erika Salvi, Francesca D'Avila, Antonio Vendramin, Chiara De Philippis, Nikhil C Munshi, Herve Avet-Loiseau, Peter J Campbell, Alberto Mussetti, Cristiana Carniti, Francesco Maura, Cristina Barlassina, Paolo Corradini, Vittorio Montefusco
BACKGROUND: The authors describe a family with a high penetrance of plasma cell dyscrasias, suggesting inheritance of an autosomal dominant risk allele. METHODS: The authors performed whole-exome sequencing and reported on a combined approach aimed at the identification of causative variants and risk loci, using the wealth of data provided by this approach. RESULTS: The authors identified gene mutations and single-nucleotide polymorphisms of potential significance, and pinpointed a known risk locus for myeloma as a potential area of transmissible risk in the family...
May 23, 2017: Cancer
https://www.readbyqxmd.com/read/28542724/viruses-and-endogenous-retroviruses-in-multiple-sclerosis-from-correlation-to-causation
#9
REVIEW
A-F A Mentis, E Dardiotis, N Grigoriadis, E Petinaki, G M Hadjigeorgiou
Multiple sclerosis is an immune-mediated disease with an environmental component. According to a long-standing but unproven hypothesis dating to initial descriptions of multiple sclerosis (MS) at the end of the 19th century, viruses are either directly or indirectly implicated in MS pathogenesis. Whether viruses in MS are principally causal or simply contributory remains to be proven, but many viruses or viral elements-predominantly Epstein-Barr virus, human endogenous retroviruses (HERVs) and human herpesvirus 6 (HHV-6) but also less common viruses such as Saffold and measles viruses-are associated with MS...
May 23, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28542573/development-of-real-time-pcr-and-loop-mediated-isothermal-amplification-lamp-assays-for-the-differential-detection-of-digital-dermatitis-associated-treponemes
#10
Kelly Anklam, Megan Kulow, Wataru Yamazaki, Dörte Döpfer
Bovine digital dermatitis (DD) is a severe infectious cause of lameness in cattle worldwide, with important economic and welfare consequences. There are three treponeme phylogroups (T. pedis, T. phagedenis, and T. medium) that are implicated in playing an important causative role in DD. This study was conducted to develop real-time PCR and loop-mediated isothermal amplification (LAMP) assays for the detection and differentiation of the three treponeme phylogroups associated with DD. The real-time PCR treponeme phylogroup assays targeted the 16S-23S rDNA intergenic space (ITS) for T...
2017: PloS One
https://www.readbyqxmd.com/read/28542556/an-inactivated-hand-foot-and-mouth-disease-vaccine-using-the-enterovirus-71-c4a-strain-isolated-from-a-korean-patient-induces-a-strong-immunogenic-response-in-mice
#11
Hyun Ju In, Heeji Lim, Jung-Ah Lee, Hye Jin Kim, Jin-Won Kim, Ji-Yeon Hyeon, Sang-Gu Yeo, June-Woo Lee, Jung Sik Yoo, Young Ki Choi, Sang-Won Lee
Enterovirus 71 (EV71) is a major causative agent of hand-foot-and-mouth disease (HFMD) frequently occurring in children. HFMD induced by EV71 can cause serious health problems and has been reported worldwide, particularly in the Asia-Pacific region. In this study, we assessed the immunogenicity of a formalin-inactivated HFMD vaccine using an EV71 strain (FI-EV71 C4a) isolated from a Korean patient. The vaccine candidate was evaluated in mice to determine the vaccination doses and vaccine schedules. BALB/c mice were intramuscularly administered 5, 10, or 20 μg FI-EV71 vaccine, followed by a booster 2 weeks later...
2017: PloS One
https://www.readbyqxmd.com/read/28542515/a-novel-frameshift-mutation-of-smpx-causes-a-rare-form-of-x-linked-nonsyndromic-hearing-loss-in-a-chinese-family
#12
Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang
X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5) in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls...
2017: PloS One
https://www.readbyqxmd.com/read/28542424/development-of-behavioural-profile-in-the-northern-common-boa-boa-imperator-repeatable-independent-traits-or-personality
#13
Olga Šimková, Petra Frýdlová, Barbora Žampachová, Daniel Frynta, Eva Landová
Recent studies of animal personality have focused on its proximate causation and ecological and evolutionary significance in particular, but the question of its development was largely overlooked. The attributes of personality are defined as between-individual differences in behaviour, which are consistent over time (differential consistency) and contexts (contextual generality) and both can be affected by development. We assessed several candidates for personality variables measured in various tests with different contexts over several life-stages (juveniles, older juveniles, subadults and adults) in the Northern common boa...
2017: PloS One
https://www.readbyqxmd.com/read/28542412/low-rates-of-antibiotic-resistance-and-infectious-mortality-in-a-cohort-of-high-risk-hematology-patients-a-single-center-retrospective-analysis-of-blood-stream-infection
#14
Jason R Conn, Elizabeth M Catchpoole, Naomi Runnegar, Sally J Mapp, Kate A Markey
Febrile neutropenia (FN) is a medical emergency and can represent a life-threatening complication for hematology patients treated with intensive chemotherapy regimens. In clinical practice, the diagnostic yield of blood cultures and other investigations which aim to identify a causative organism or site of infection is low. We have retrospectively examined all blood cultures collected in a "real world" cohort of patients receiving chemotherapy for acute leukemia and patients with aggressive lymphoma treated with Hyper-CVAD/MTX-cytarabine, at a single tertiary center over a five-year period...
2017: PloS One
https://www.readbyqxmd.com/read/28540992/comparison-of-the-immunocap-assay-and-advansure%C3%A2-alloscreen-advanced-multiplex-specific-ige-detection-assay
#15
Kyung Hee Park, Jongsun Lee, Sang Chul Lee, Young Woong Son, Da Woon Sim, Jae Hyun Lee, Jung Won Park
PURPOSE: The AdvanSure™ AlloScreen assay is an advanced multiplex test that allows for simultaneous detection of specific IgE (sIgE) against multiple allergens. For precise identification of causative allergens in allergic patients, we compared this new multiplex sIgE assay with the ImmunoCAP assay, which is currently the gold-standard method for sIgE detection. MATERIALS AND METHODS: Serum samples from 218 Korean allergic disease patients were used to compare the ImmunoCAP and AlloScreen assays with respect to the following 13 allergens: Dermatophagoides pteronyssinus, Dermatophagoides farinae, cat and dog dander, Alternaria, birch, oak, ragweed, mugwort, rye grass, and food allergens (egg white, cow's milk, peanuts)...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28540566/-osteosynthesis-associated-infections-epidemiology-definition-and-diagnosis
#16
REVIEW
N Renz, S Feihl, C E Dlaska, M A Schütz, A Trampuz
Osteosynthesis-associated infections occur in 1-5% after closed and in up to 30% after open fractures. There are three different descriptions of implant-associated infections after fracture fixation, which are crucial for the selection of the adequate treatment strategy; temporal appearance from the index surgery (early versus late), pathogenesis of the infection (exogenous, hematogenous and contiguous from an adjacent focus), duration of infection symptoms (acute versus chronic). Diagnosis of osteosynthesis-associated infection is challenging, as chronic low-grade infections often present only with unspecific and subtle clinical symptoms...
May 24, 2017: Der Unfallchirurg
https://www.readbyqxmd.com/read/28540144/spondylitis-transmitted-from-infected-aortic-grafts-a-review
#17
REVIEW
Panayiotis D Megaloikonomos, Thekla Antoniadou, Leonidas Dimopoulos, Marcos Liontos, Vasilios Igoumenou, Georgios N Panagopoulos, Efthymia Giannitsioti, Andreas Lazaris, Andreas F Mavrogenis
Graft infection following aortic aneurysms repair is an uncommon but devastating complication; its incidence ranges from <1% to 6% (mean 4%), with an associated perioperative and overall mortality of 12% and 17.5-20%, respectively. The most common causative organisms are Staphylococcus aureus and Escherichia coli; causative bacteria typically arise from the skin or gastrointestinal tract. The pathogenetic mechanisms of aortic graft infections are mainly breaks in sterile technique during its implantation, superinfection during bacteremia from a variety of sources, severe intraperitoneal or retroperitoneal inflammation, inoculation of bacteria during postoperative percutaneous interventions to manage various types of endoleaks, and external injury of the vascular graft...
2017: J Bone Jt Infect
https://www.readbyqxmd.com/read/28539839/ppard-is-an-inhibitor-of-cartilage-growth-in-external-ears
#18
Zhen Zhang, Yanyu Duan, Zhongping Wu, Hui Zhang, Jun Ren, Lusheng Huang
Peroxisome proliferator-activated receptor beta/delta (PPARD) is an important determinant of multiple biological processes. Our previous studies identified a missense mutation in the PPARD gene that significantly reduces its transcription activity, and consequently causes enlarged external ears in pigs. However, the mechanisms underlying the causality has remained largely unknown. Here, we show that PPARD retards the development of auricular cartilage by accelerating the apoptosis of cartilage stem/progenitor cells (CSPCs), the terminal differentiation of cartilage cells and the degradation of cartilage extracellular matrix in the auricle...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28539342/multicenter-clinical-evaluation-of-the-luminex-aries%C3%A2-flu-a-b-rsv-assay-for-pediatric-and-adult-respiratory-tract-specimens
#19
Stefan Juretschko, James Mahony, Richard S Buller, Ryhana Manjj, Sherry Dunbar, Kimberly Walker, Arundhati Rao
Influenza A and B viruses and respiratory syncytial virus (RSV) are three common viruses implicated in seasonal respiratory tract infections and a major cause of morbidity and mortality in adults and children worldwide. In recent years, an increasing number of commercial molecular tests have become available to diagnose respiratory viral infections. The Luminex® ARIES® Flu A/B & RSV Assay is a fully automated sample-to-answer molecular diagnostic assay for the detection of influenza A, influenza B and RSV...
May 24, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28539120/comprehensive-whole-genome-sequence-analyses-yields-novel-genetic-and-structural-insights-for-intellectual-disability
#20
Farah R Zahir, Jill C Mwenifumbo, Hye-Jung E Chun, Emilia L Lim, Clara D M Van Karnebeek, Madeline Couse, Karen L Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F Boerkoel, Sylvie L Langlois, Barbara M McGillivray, Steven J M Jones, Jan M Friedman, Marco A Marra
BACKGROUND: Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients. METHODS: We conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an extensive data analyses, using standard and discovery approaches...
May 24, 2017: BMC Genomics
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