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https://www.readbyqxmd.com/read/28324901/pediatric-feeding-disorders-and-severe-developmental-disabilities
#1
Jane ORegan Kleinert
Children with severe developmental disabilities face numerous challenges to function and participate in activities of daily life. One of the most significant challenges to accomplishing this goal is that of oral feeding disorders. Indeed, it is estimated that among children with developmental disabilities, up to 80 to 90% present with some level of feeding disorders. In addition, it has been shown that as the level of severity of intellectual disability increases, so does the severity of the oral feeding disorders...
April 2017: Seminars in Speech and Language
https://www.readbyqxmd.com/read/28324273/acute-pancreatitis-caused-by-mycoplasma-pneumoniae-an-unusual-etiology
#2
Teresa Valdés Lacasa, María Alejandra Duarte Borges, Alicia García Marín, Covadonga Gómez Cuervo
It is well known that the most important etiologies of acute pancreatitis are gallstones and alcohol consumption. Once these causes have been ruled out, especially in young adults, it is important to consider less frequent etiologic factors such as drugs, trauma, malformations, autoimmunity or systemic diseases. Other rare and less well studied causes of this pathology are infections, among which Mycoplasma pneumoniae has been reported to cause acute pancreatitis as an unusual extrapulmonary manifestation. Here, we report the case of a 21-year-old patient who had acute idiopathic pancreatitis associated with an upper respiratory tract infection...
March 21, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28324245/comparison-of-dna-microarray-loop-mediated-isothermal-amplification-lamp-and-real-time-pcr-with-dna-sequencing-for-identification-of-fusarium-spp-obtained-from-patients-with-hematologic-malignancies
#3
Marcela de Souza, Tetsuhiro Matsuzawa, Kanae Sakai, Yasunori Muraosa, Luzia Lyra, Ariane Fidelis Busso-Lopes, Anna Sara Shafferman Levin, Angélica Zaninelli Schreiber, Yuzuru Mikami, Tohoru Gonoi, Katsuhiko Kamei, Maria Luiza Moretti, Plínio Trabasso
The performance of three molecular biology techniques, i.e., DNA microarray, loop-mediated isothermal amplification (LAMP), and real-time PCR were compared with DNA sequencing for properly identification of 20 isolates of Fusarium spp. obtained from blood stream as etiologic agent of invasive infections in patients with hematologic malignancies. DNA microarray, LAMP and real-time PCR identified 16 (80%) out of 20 samples as Fusarium solani species complex (FSSC) and four (20%) as Fusarium spp. The agreement among the techniques was 100%...
March 21, 2017: Mycopathologia
https://www.readbyqxmd.com/read/28324244/animal-models-and-antifungal-agents-in-paracoccidioidomycosis-an-overview
#4
REVIEW
Luciano Z Goldani, Fernanda Wirth
Paracoccidioides brasiliensis is the etiologic agent of paracoccidioidomycosis, the most prevalent systemic mycosis in Latin America. The morbidity and mortality associated with paracoccidioidomycosis necessitate our understanding of fungal pathogenesis and discovering of new agents to treat this infection. Animal models have contributed much to the knowledge of fungal infections and their corresponding therapeutic treatments. This is true for animal models of the primary fungal pathogens such as P. brasiliensis...
March 21, 2017: Mycopathologia
https://www.readbyqxmd.com/read/28324217/rare-slc1a1-variants-in-hot-water-epilepsy
#5
Kalpita Rashimi Karan, P Satishchandra, Sanjib Sinha, Anuranjan Anand
Hot water epilepsy is sensory epilepsy, wherein seizures are triggered by an unusual stimulus: contact with hot water. Although genetic factors contribute to the etiology of hot water epilepsy, molecular underpinnings of the disorder remain largely unknown. We aimed to identify the molecular genetic basis of the disorder by studying families with two or more of their members affected with hot water epilepsy. Using a combination of genome-wide linkage mapping and whole exome sequencing, a missense variant was identified in SLC1A1 in a three-generation family...
March 21, 2017: Human Genetics
https://www.readbyqxmd.com/read/28324114/novel-25-kb-deletion-of-mertk-causes-retinitis-pigmentosa-with-severe-progression
#6
Daniel R Evans, Jane S Green, Gordon J Johnson, Jeremy Schwartzentruber, Jacek Majewski, Chandree L Beaulieu, Wen Qin, Christian R Marshall, Tara A Paton, Nicole M Roslin, Andrew D Paterson, Somayyeh Fahiminiya, Justin French, Kym M Boycott, Michael O Woods
Purpose: Retinitis pigmentosa (RP) describes a complex group of inherited retinal dystrophies with almost 300 reported genes and loci. We investigated the genetic etiology of autosomal recessive RP (arRP) in a large kindred with 5 affected family members, who reside on the island of Newfoundland, Canada. Methods: Genetic linkage analysis was performed on 12 family members (Infinium HumanOmni2.5-8 BeadChip). Whole exome sequencing analysis (Illumina HiSeq) was performed on one affected individual...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#7
Andrew Dauber, Marina Cunha-Silva, Delanie B Macedo, Vinicius N Brito, Ana Paula Abreu, Stephanie A Roberts, Luciana R Montenegro, Melissa Andrew, Andrew Kirby, Matthew T Weirauch, Guillaume Labilloy, Danielle S Bessa, Rona S Carroll, Dakota C Jacobs, Patrick E Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser, Ana Claudia Latronico
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole genome sequencing was performed in a family with 5 female members with nonsyndromic CPP...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323984/trimester-specific-urinary-bisphenol-a-concentrations-and-blood-glucose-levels-among-pregnant-women-from-a-fertility-clinic
#8
Yu-Han Chiu, Lidia Mínguez-Alarcón, Jennifer B Ford, Myra Keller, Ellen W Seely, Carmen Messerlian, John Petrozza, Paige L Williams, Xiaoyun Ye, Antonia M Calafat, Russ Hauser, Tamarra James-Todd
Context: Women with a history of infertility are at increased risk of impaired glucose tolerance during pregnancy. Studies suggest higher urinary bisphenol A (BPA) concentrations are associated with diabetes in non-pregnant populations, but the association between BPA and glucose levels among pregnant women is unclear. Objective: To assess trimester-specific urinary BPA concentrations in relation to blood glucose levels among subfertile women. Design: Environment and Reproductive Health Study, an ongoing prospective cohort study...
January 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-2012
#9
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: Etiologic diagnosis of diabetes may impact on therapeutic strategy, and prognosis of chronic complications. Objective: The aim of the study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers, and the influence of etiologic diagnosis on therapy. Design, Setting and Patients: This was a retrospective study. Clinical records of 3781 consecutive patients (age: 0-18 years) referred to fifteen pediatric diabetes clinics and diagnosed with diabetes or IFG between Jan/1/2007 and Dec/31/2012 were examined...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323870/contribution-of-sortase-srta2-to-lactobacillus-casei-bl23-inhibition-of-staphylococcus-aureus-internalization-into-bovine-mammary-epithelial-cells
#10
Renata F S Souza, Julien Jardin, Chantal Cauty, Lucie Rault, Damien S Bouchard, Luis G Bermúdez-Humarán, Philippe Langella, Vicente Monedero, Núbia Seyffert, Vasco Azevedo, Yves Le Loir, Sergine Even
Probiotics have been considered as a promising strategy to prevent various diseases in both humans and animals. This approach has gained interest in recent years as a potential means to control bovine mastitis. In a previous study, we found that several L. casei strains, including BL23, were able to inhibit the internalization of S. aureus, a major etiologic agent of mastitis, into bovine mammary epithelial cells (bMEC). This antagonism required a direct contact between L. casei and bMEC or S. aureus, suggesting the inhibition relied on interactions between L...
2017: PloS One
https://www.readbyqxmd.com/read/28323855/etiology-of-acute-diarrhea-in-the-elderly-in-china-a-six-year-observational-study
#11
Zike Zhang, Shengjie Lai, Jianxing Yu, Qibin Geng, Wanqi Yang, Yu Chen, Jianguo Wu, Huaiqi Jing, Weizhong Yang, Zhongjie Li
Acute diarrhea leads to a substantial disease burden among the elderly worldwide. However, in the context of increasingly aging trend in China, the prevalence of etiological agents among elderly diarrheal patients was undetermined. This study aimed to explore the major enteropathogens of acute diarrhea among outpatients older than 65 years in China, and also the epidemiological features of the pathogens. Demographic and clinical data for acute diarrhea among outpatients older than 65 years were collected from 213 participating hospitals from 2009 to 2014...
2017: PloS One
https://www.readbyqxmd.com/read/28323751/long-term-nitrite-inhalant-exposure-and-cancer-risk-in-men-who-have-sex-with-men-a-prospective-cohort-study
#12
Anupriya Dutta, Hajime Uno, Alex Holman, David R Lorenz, Steven M Wolinsky, Dana Gabuzda
OBJECTIVES: Nitrite inhalants (poppers) are commonly used recreational drugs among men who have sex with men (MSM) and were previously associated with elevated rates of high-risk sexual behavior, HIV and HHV-8 seroconversion, and transient immunosuppressive effects in experimental models. Whether long-term popper use is associated with cancer risk among MSM in the HAART era is unclear. DESIGN: Prospective cohort study of cancer risk in 3223 HIV-infected and -uninfected MSM in the Multicenter AIDS Cohort Study from 1996-2010...
March 18, 2017: AIDS
https://www.readbyqxmd.com/read/28323735/covered-balloon-expanding-stents-in-airway-stenosis
#13
Adnan Majid, Fayez Kheir, Jey Chung, Daniel Alape, Bryan Husta, Scott Oh, Erik Folch
BACKGROUND: The balloon-expanding stents are widely available but rarely described for use within the tracheobronchial tree. This report describes our experience with these stents in airway stenosis particularly as a lobar salvage therapy. METHODS: This was a retrospective review of all records in which the balloon-expanding stents were used at a tertiary medical center. Ages, sex, location of stenosis, etiology of stenosis, stent size, duration of stent placement and associated interventions for airway stenosis were recorded...
April 2017: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/28323705/etiology-of-adult-onset-stress-fracture-in-the-lumbar-spine
#14
Fumitake Tezuka, Koichi Sairyo, Toshinori Sakai, Akira Dezawa
STUDY DESIGN: This study was a case series. OBJECTIVE: The purpose of this paper was to present a case series of fresh stress fractures (spondylolysis) in the lumbar spines of adult athletes. SUMMARY OF BACKGROUND DATA: Lumbar spondylolysis is a stress fracture of the pars interarticularis, which is generally considered a disease of children or adolescence. There is only 1 case series written in English reporting on adult-onset fresh spondylolysis...
April 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28323644/pediatric-acute-compartment-syndrome
#15
Kristin S Livingston, Michael P Glotzbecker, Benjamin J Shore
Pediatric acute compartment syndrome (PACS) is a clinical entity that must be carefully differentiated from the adult version (ie, acute compartment syndrome). Healthcare providers must understand the variable etiologies of PACS, of which trauma is the most common but can also include vascular insult, infection, surgical positioning, neonatal phenomena, overexertion, and snake and insect bites. In addition to the unique etiologies of PACS, providers must also recognize the different signs and symptoms of PACS...
March 17, 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28323562/corynebacterium-pseudotuberculosis-infection-in-patagonian-huemul-hippocamelus-bisulcus
#16
Nelly Morales, Dennis Aldridge, Andrea Bahamonde, Julio Cerda, Claudio Araya, Rodrigo Muñoz, María Esther Saldías, Claudio Lecocq, Marcela Fresno, Pedro Abalos, Patricio Retamal
Corynebacterium pseudotuberculosis is an intracellular bacteria and the etiologic agent of caseous lymphadenitis in domestic and wildlife species. We report C. pseudotuberculosis infection in Patagonian huemul ( Hippocamelus bisulcus ) from the Cerro Castillo National Reserve, Region of Aysen, Chile. Subcutaneous abscesses in the abdominal and pectoral regions from two animals were sampled and bacteriologic isolation was performed. In both cases, we isolated a C. pseudotuberculosis strain belonging to the ovine genotype...
March 21, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/28320289/cancer-bad-luck-or-punishment
#17
A V Lichtenstein
Contrasting opinions on the role of extrinsic and intrinsic factors in cancer etiology (Tomasetti, C., and Vogelstein, B. (2015) Science, 347, 78-81; Wu, S., et al. (2016) Nature, 529, 43-47) variously define priorities in the war on cancer. The correlation between the lifetime risk of several types of cancer and the total number of divisions of normal self-renewing cells revealed by the authors has given them grounds to put forward the "bad luck" hypothesis. It assumes that ~70% of cancer variability is attributed to random errors arising during DNA replication in normal, noncancerous stem cells, i...
January 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28320174/etiological-agents-of-viral-meningitis-in-children-from-a-dengue-endemic-area-southeast-region-of-brazil
#18
Danilo B de Oliveira, Talitah M Candiani, Ana Paula M Franco-Luiz, Gabriel M F Almeida, Jônatas S Abrahão, Maria Rios, Roney S Coimbra, Erna G Kroon
Meningitis is a disease with a global distribution that constitutes a worldwide burden, with viruses as the primary etiologic agents. The range of viral meningitis severity depends mainly on age, immune status and etiological agent. The aim of this work was to investigate the suspected cases of viral meningitis using molecular techniques to confirm the viral infection. The diagnosed virus was correlated with clinical findings and cytochemical parameters in cerebrospinal liquid (CSF) of patients. CSF of 70 children with the presumptive diagnosis of viral meningitis was analyzed by real time PCR (qPCR)...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320150/additional-evidence-supports-association-of-common-genetic-variants-in-vti1a-and-etfa-with-increased-risk-of-glioma-susceptibility
#19
Ning Wang, Zhong Deng, Maode Wang, Ruichun Li, Gaofeng Xu, Gang Bao
BACKGROUND: VTI1A and ETFA were identified recently as susceptibility genes for non-glioblastoma (GBM) of glioma risk in European populations, but the genetic etiology and pathogenesis of glioma have not been fully elucidated. Here, we aimed to investigate whether common genetic variants in VTI1A and ETFA predispose Han Chinese individuals to glioma. METHODS: The association of thirteen common tagging single nucleotide polymorphisms (SNPs) in VTI1A and ETFA genes with glioma were assessed in a hospital-based case-control study including 473 non-GBM of glioma patients and 1046 cancer-free controls...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319736/structural-variants-in-snca-gene-and-the-implication-to-synucleinopathies
#20
REVIEW
Ornit Chiba-Falek
Synucleinopathies are a group of neurodegenerative diseases that share a common pathological lesion of intracellular protein inclusions largely composed of aggregates of alpha-synuclein protein. Accumulating evidence, including genome-wide association studies, has implicated the alpha-synuclein (SNCA) gene in the etiology of synucleinopathies and it has been suggested that SNCA expression levels are critical for the development of these diseases. This review focuses on genetic variants from the class of structural variants (SVs), including multiplication of large genomic segments and short (<50bp) genomic variants such as simple sequence repeats (SSRs), within the SNCA locus...
March 2, 2017: Current Opinion in Genetics & Development
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