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https://www.readbyqxmd.com/read/29793060/a-computational-framework-for-the-detection-of-subcortical-brain-dysmaturation-in-neonatal-mri-using-3d-convolutional-neural-networks
#1
Rafael Ceschin, Alexandria Zahner, William Reynolds, Jenna Gaesser, Giulio Zuccoli, Cecilia W Lo, Vanathi Gopalakrishnan, Ashok Panigrahy
Deep neural networks are increasingly being used in both supervised learning for classification tasks and unsupervised learning to derive complex patterns from the input data. However, the successful implementation of deep neural networks using neuroimaging datasets requires adequate sample size for training and well-defined signal intensity based structural differentiation. There is a lack of effective automated diagnostic tools for the reliable detection of brain dysmaturation in the neonatal period, related to small sample size and complex undifferentiated brain structures, despite both translational research and clinical importance...
May 21, 2018: NeuroImage
https://www.readbyqxmd.com/read/29793059/longitudinal-surveillance-of-drug-resistance-in-plasmodium-falciparum-isolates-from-the-china-myanmar-border-reveals-persistent-circulation-of-multidrug-resistant-parasites
#2
Yao Bai, Jiaqi Zhang, Jinting Geng, Shiling Xu, Shuang Deng, Weilin Zeng, Zenglei Wang, Huguette Gaelle Ngassa Mbenda, Jie Zhang, Na Li, Yanrui Wu, Cuiying Li, Huae Liu, Yonghua Ruan, Yaming Cao, Zhaoqing Yang, Liwang Cui
Multidrug-resistant Plasmodium falciparum in the Greater Mekong Subregion of Southeast Asia is a major threat to malaria elimination and requires close surveillance. In this study, we collected 107 longitudinal clinical samples of P. falciparum in 2007-2012 from the malaria hypoendemic region of the China-Myanmar border and measured their in vitro susceptibilities to 10 antimalarial drugs. Overall, parasites had significantly different IC50 values to all the drugs tested as compared to the reference 3D7 strain...
May 21, 2018: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/29792983/impact-of-genetic-influence-on-serum-total-and-free-25-hydroxyvitamin-d-in-humans
#3
Balázs Szili, Boglárka Szabó, Péter Horváth, Bence Bakos, Györgyi Kirschner, János P Kósa, Erzsébet Toldy, Zsuzsanna Putz, Péter Lakatos, Ádám Tabák, István Takács
Serum 25-hydroxyvitamin D /25OHD/ levels in humans are determined primarily by environmental factors such as UV-B radiation and diet, including vitamin D intake. Although some genetic determinants of 25OHD levels have been shown, the magnitude of this association has not yet been clarified. The present study evaluates the genetic contribution to total- /t-25OHD/ and free-25OHD /f-25OHD/ in a representative sample of the Hungarian population (n = 462). The study was performed at the end of winter to minimize the effect of sunlight, which is a major determinant of serum vitamin D levels...
May 21, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29792895/pharmacogenomics-of-drug-induced-liver-injury-dili-molecular-biology-to-clinical-applications
#4
REVIEW
Kalaiyarasi Kaliyaperumal, Jane I Grove, Robin M Delahay, William J H Griffiths, Adam Duckworth, Guruprasad P Aithal
A number of drug-specific and host-related factors contribute to the development of drug-induced liver injury (DILI). Investigations focused on genetic susceptibility to DILI have advanced our understanding of the pathogenesis of this rare, yet potentially life-threatening adverse reaction. Candidate gene studies involving well-characterized patients with DILI and drug-exposed controls have identified single nucleotide polymorphisms (SNPs) affecting the metabolism and clearance of specific drugs and hence, influencing individual's susceptibility to DILI...
May 21, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29792872/association-of-glucocerebrosidase-polymorphisms-and-mutations-with-dementia-in-incident-parkinson-s-disease
#5
Kristin Aaser Lunde, Janete Chung, Ingvild Dalen, Kenn Freddy Pedersen, Jan Linder, Magdalena E Domellöf, Eva Elgh, Angus D Macleod, Charalampos Tzoulis, Jan Petter Larsen, Ole-Bjørn Tysnes, Lars Forsgren, Carl E Counsell, Guido Alves, Jodi Maple-Grødem
INTRODUCTION: Both polymorphisms and mutations in glucocerebrosidase (GBA) may influence the development of dementia in patients with Parkinson's disease. METHODS: Four hundred forty-two patients and 419 controls were followed for 7 years. Dementia was diagnosed using established criteria. Participants were analyzed for GBA genetic variants, including E326K, T369M, and L444P. Associations between GBA carrier status and dementia were assessed with Cox survival analysis...
May 21, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29792808/eradication-of-established-tumors-by-chemically-self-assembled-nanoring-csan-targeted-t-cells
#6
Jacob Petersburg, Jingjing Shen, Clifford M Csizmar, Katherine A Murphy, Justin Spanier, Kari Gabrielse, Thomas S Griffith, Brian Fife, Carston R Wagner
Our laboratory has developed chemically self-assembled nanorings (CSANs) as prosthetic antigen receptors (PARs) for the non-genetic modification of T-cell surfaces. PARs have been successfully employed in vitro to activate T cells for the selective killing of leukemia cells. However, PAR efficacy has yet to be evaluated in vivo or against solid tumors. Therefore, we developed bispecific PARs that selectively target the human CD3 receptor and human Epithelial Cell Adhesion Molecule (EpCAM), which is overexpressed on multiple carcinomas and cancer stem cells...
May 24, 2018: ACS Nano
https://www.readbyqxmd.com/read/29792762/genetic-profiling-in-acute-myeloid-leukemia-a-path-to-predicting-treatment-outcome
#7
Giuseppe Visani, Federica Loscocco, Alessandro Isidori, Pier Paolo Piccaluga
Despite substantial progresses in acute myeloid leukemia (AML) diagnosis and treatment, at least half of patient will eventually die for the disease. In the last decades, the use of genetic and genomic approaches allowed the identification of patients with higher risk of recurrence after and/or resistance to CHT. However, though many novel drugs have been proposed and tested, only little clinical improvements have been made concerning the treatment of the so called 'high risk' patients. Areas covered: In this article, the authors, based on their own experience and the most updated literature, review the basic knowledge of AML prognostication and treatment prediction developed throughout genetic and genomic profiling, and focus on the use of gene expression profiling as a promising predictive tool...
May 24, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29792212/the-role-of-human-metapneumovirus-genetic-diversity-and-nasopharyngeal-viral-load-on-symptom-severity-in-adults
#8
Xiang Yong Oong, Jack Bee Chook, Kim Tien Ng, Wei Zhen Chow, Kok Gan Chan, Nik Sherina Hanafi, Yong Kek Pang, Yoke Fun Chan, Adeeba Kamarulzaman, Kok Keng Tee
BACKGROUND: Human metapneumovirus (HMPV) is established as one of the causative agents of respiratory tract infections. To date, there are limited reports that describe the effect of HMPV genotypes and/or viral load on disease pathogenesis in adults. This study aims to determine the role of HMPV genetic diversity and nasopharyngeal viral load on symptom severity in outpatient adults with acute respiratory tract infections. METHODS: Severity of common cold symptoms of patients from a teaching hospital was assessed by a four-category scale and summed to obtain the total symptom severity score (TSSS)...
May 23, 2018: Virology Journal
https://www.readbyqxmd.com/read/29791948/multiple-sclerosis
#9
Bassem I Yamout, Raed Alroughani
Multiple sclerosis (MS) is a chronic central nervous system inflammatory disease of autoimmune etiology, mediated by activated T cells with evolving evidence of a significant contribution from B cells and cells of the innate immune system. The disease is thought to be due to a complex interaction between different genetic and environmental factors. The prevalence of MS is rising all over the world, due on one hand to earlier diagnosis and prolonged survival, and on the other to a true increase in incidence of the disease...
April 2018: Seminars in Neurology
https://www.readbyqxmd.com/read/29791922/p2y12-polymorphisms-and-the-risk-of-adverse-clinical-events-in-patients-treated-with-clopidogrel-a-meta-analysis
#10
Kun Zhao, Ming Yang, Yanxia Lu, Shusen Sun, Wei Li, Xingang Li, Zhigang Zhao
BACKGROUND AND STUDY AIM: Some studies have reported an association between P2Y12 gene polymorphisms and clopidogrel adverse outcomes with inconsistent results. We aimed to explore the relationship between P2Y12 polymorphisms and the risk of adverse clinical events in patients treated with clopidogrel through a meta-analysis. METHODS: A systematic search of PubMed, Web of Science and the Cochrane Library was conducted. Retrieved articles were comprehensively reviewed and eligible studies were included, and the relevant data was extracted for this meta-analysis...
May 23, 2018: Drug Research
https://www.readbyqxmd.com/read/29791912/differential-expression-of-micrornas-in-breast-cancers-from-four-different-ethnicities
#11
Jennifer Pollard, Phil A Burns, Tom A Hughes, Colan Ho-Yen, J Louise Jones, Geetashree Mukherjee, Ganiat O Omoniyi-Esan, Nicholas Akinwale Titloye, Valerie Speirs, Abeer M Shaaban
INTRODUCTION: Breast cancer outcomes vary across different ethnic groups. MicroRNAs (miRs) are small non-coding RNA molecules that regulate gene expression across a range of pathologies, including breast cancer. The aim of this study was to evaluate the presence and expression of miRs in breast cancer samples from different ethnic groups. MATERIALS AND METHODS: Breast cancer tissue from 4 ethnic groups, i.e., British Caucasian, British Black, Nigerian, and Indian, were identified and matched for patients' age, tumour grade/type, and 10 × 10 µm sections taken...
May 23, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29791872/gene-expression-in-cord-blood-links-genetic-risk-for-neurodevelopmental-disorders-with-maternal-psychological-distress-and-adverse-childhood-outcomes
#12
Michael S Breen, Aliza P Wingo, Nastassja Koen, Kirsten A Donald, Mark Nicol, Heather J Zar, Kerry J Ressler, Joseph D Buxbaum, Dan J Stein
Prenatal exposure to maternal stress and depression has been identified as a risk factor for adverse behavioral and neurodevelopmental outcomes in early childhood. However, the molecular mechanisms through which maternal psychopathology shapes offspring development remain poorly understood. We applied transcriptome-wide screens to 149 umbilical cord blood samples from neonates born to mothers with posttraumatic stress disorder (PTSD; n=20), depression (n=31) and PTSD with comorbid depression (n=13), compared to carefully matched trauma exposed controls (n=23) and healthy mothers (n=62)...
May 20, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29791710/postoperative-pain-and-analgesia-is-there-a-genetic-basis-to-the-opioid-crisis
#13
Randa K Elmallah, Prem N Ramkumar, Anton Khlopas, Rathika R Ramkumar, Morad Chughtai, Nipun Sodhi, Assem A Sultan, Michael A Mont
BACKGROUND: Multiple factors have been implicated in determining why certain patients have increased postoperative pain, with the potential to develop chronic pain. The purpose of this study was to: 1) identify and describe genes that affect postoperative pain perception and control; 2) address modifiable risk factors that result in epigenetic altered responses to pain; and 3) characterize differences in pain sensitivity and thresholds between opioid-naïve and opioid-dependent patients...
June 1, 2018: Surgical Technology International
https://www.readbyqxmd.com/read/29791666/prevalence-of-polymorphisms-in-the-ankk1-drd2-drd3-genes-and-metabolic-syndrome-in-refractory-schizophrenia
#14
Jeizziani Aparecida Ferreira Pinto, Pedro Henrique Batista de Freitas, Fernanda Daniela Dorneles Nunes, Paulo Afonso Granjeiro, Luciana Lara Dos Santos, Richardson Miranda Machado
OBJECTIVE: to estimate the prevalence of TaqIA, -141C and rs6280 polymorphisms of the ANKK1, DRD2 and DRD3 genes and evaluate their association with the occurrence of metabolic syndrome in patients with refractory schizophrenia. METHOD: cross-sectional study conducted in the Extended Western Region of Minas Gerais, with refractory schizophrenic patients using the antipsychotic clozapine. Sociodemographic, clinical, anthropometric, biochemical and genetic data were collected...
2018: Revista Latino-americana de Enfermagem
https://www.readbyqxmd.com/read/29791621/speech-language-pathology-aspects-in-a-pediatric-case-of-head-and-neck-arthrogryposis
#15
Jennifer Alvares Trindade, Jordana da Silva Freitas, Liliane Menzen, Carolina Laux, Lisiane de Rosa Barbosa, Maria Cristina de Almeida Freitas Cardoso
Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments...
2018: CoDAS
https://www.readbyqxmd.com/read/29791609/association-between-multidrug-resistance-1-c3435t-gene-polymorphism-and-right-ventricular-dysfunction-in-patients-with-chronic-obstructive-pulmonary-disease-cross-sectional-study
#16
Oğuzhan Yücel, Hakan Güneş, Hasan Yücel, Ali Zorlu
BACKGROUND: Right ventricular (RV) dysfunction may develop over the course of chronic obstructive pulmonary disease (COPD) and is an important predictor of morbidity and mortality. Polymorphism of the multidrug resistance-1 (MDR-1) gene has been correlated with worse clinical findings among patients with COPD. Our aim here was to investigate the relationship between MDR-1 C3435T gene polymorphism and RV dysfunction in COPD patients. DESIGN AND SETTING: This was a cross-sectional study investigating the relationship between RV dysfunction and genetic defects in COPD patients...
March 2018: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/29791608/hiv-1-genetic-diversity-and-resistance-to-antiretroviral-drugs-among-pregnant-women-in-ribeir%C3%A3-o-preto-sp-brazil-cross-sectional-study
#17
Ana Teresa Mancini Pimenta, Isadora Alonso Correa, Patricia Pereira Dos Santos Melli, Renata Abduch, Geraldo Duarte, José Carlos Couto-Fernandez, Silvana Maria Quintana
BACKGROUND: Increasing genetic diversity of HIV-1 and emergence of drug-resistant mutations may reduce the efficacy of antiretroviral therapy and prophylaxis that are used to prevent mother-to-child transmission. The aim of this study was to assess the genetic diversity and prevalence of drug-resistant mutations among HIV-infected pregnant women. DESIGN AND SETTING: Cross-sectional study at an outpatient clinic for infectious diseases within gynecology and obstetrics...
March 2018: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/29791442/bacillus-cereus-a-serious-cause-of-nosocomial-infections-epidemiologic-and-genetic-survey
#18
Benjamin Glasset, Sabine Herbin, Sophie A Granier, Laurent Cavalié, Emilie Lafeuille, Cyprien Guérin, Raymond Ruimy, Florence Casagrande-Magne, Marion Levast, Nathalie Chautemps, Jean-Winoc Decousser, Laure Belotti, Isabelle Pelloux, Jerôme Robert, Anne Brisabois, Nalini Ramarao
Bacillus cereus is the 2nd most frequent bacterial agent responsible for food-borne outbreaks in France and the 3rd in Europe. In addition, local and systemic infections have been reported, mainly describing individual cases or single hospital setting. The real incidence of such infection is unknown and information on genetic and phenotypic characteristics of the incriminated strains is generally scarce. We performed an extensive study of B. cereus strains isolated from patients and hospital environments from nine hospitals during a 5-year study, giving an overview of the consequences, sources and pathogenic patterns of B...
2018: PloS One
https://www.readbyqxmd.com/read/29791243/amcp-partnership-forum-managing-care-in-the-wave-of-precision-medicine
#19
(no author information available yet)
Precision medicine, the customization of health care to an individual's genetic profile while accounting for biomarkers and lifestyle, has increasingly been adopted by health care stakeholders to guide the development of treatment options, improve treatment decision making, provide more patient-centered care, and better inform coverage and reimbursement decisions. Despite these benefits, key challenges prevent its broader use and adoption. On December 7-8, 2017, the Academy of Managed Care Pharmacy convened a group of stakeholders to discuss these challenges and provide recommendations to facilitate broader adoption and use of precision medicine across health care settings...
May 23, 2018: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29791232/the-role-of-interleukin-31-polymorphisms-in-non-small-cell-lung-cancer-genetic-susceptibility-and-clinical-outcome
#20
Yongfeng Yang, Li Li, Fei Chen, Li Zhang, Hong Bu
BACKGROUND: Interleukin-31 (IL-31), a novel T helper type 2 effector cytokine, is known to have an important effect on the pathogenesis of allergic disease and tumors. However, the impact of IL-31 on human lung cancer remains unclear. METHODS: This study explored the role of IL-31 polymorphisms in lung cancer and sought to characterize how IL-31 polymorphisms correlate with lung cancer tumorigenesis and patient survival rates. Using a single-nucleotide polymorphism genotype assay, we examined the expression of two IL-31 polymorphisms (rs7977932 and rs4758680) in samples from 302 lung cancer patients and 493 control cases...
May 2018: Genetic Testing and Molecular Biomarkers
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