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https://www.readbyqxmd.com/read/29142068/pharmacologic-inhibition-of-the-menin-mll-interaction-leads-to-transcriptional-repression-of-peg10-and-blocks-hepatocellular-carcinoma
#1
Katarzyna Kempinska, Bhavna Malik, Dmitry Borkin, Szymon Klossowski, Shirish Shukla, Hongzhi Miao, Jingya Wang, Tomasz Cierpicki, Jolanta Grembecka
Hepatocellular carcinoma (HCC) accounts for ~85% of malignant liver tumors and results in 600,000 deaths each year, emphasizing the need for new therapies. Upregulation of menin was reported in HCC patients and high levels of menin correlate with poor patient prognosis. The protein-protein interaction between menin and histone methyltransferase Mixed Lineage Leukemia 1 (MLL1) plays an important role in the development of HCC, implying that pharmacologic inhibition of this interaction could lead to new therapeutic strategy for the HCC patients...
November 15, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/29125417/loss-of-mechanosensitive-sclerostin-may-accelerate-cranial-bone-growth-and-regeneration
#2
Kyung Shin Kang, Jeff Lastfogel, Laurie L Ackerman, Andrew Jea, Alexander G Robling, Sunil S Tholpady
OBJECTIVE Cranial defects can result from trauma, infection, congenital malformations, and iatrogenic causes and represent a surgical challenge. The current standard of care is cranioplasty, with either autologous or allogeneic material. In either case, the intrinsic vascularity of the surrounding tissues allows for bone healing. The objective of this study was to determine if mechanotransductive gene manipulation would yield non-weight-bearing bone regeneration in a critical size calvarial defect in mice. METHODS A mouse model of Sost deletion in Sost knockout (KO) mice was created in which the osteocytes do not express sclerostin...
November 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29100554/intersociety-policy-statement-on-the-use-of-whole-exome-sequencing-in-the-critically-ill-newborn-infant
#3
REVIEW
Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello
The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system...
November 3, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29092052/long-lasting-successful-dissemination-of-resistance-to-oxazolidinones-in-mdr-staphylococcus-epidermidis-clinical-isolates-in-a-tertiary-care-hospital-in-france
#4
Laurent Dortet, Philippe Glaser, Najiby Kassis-Chikhani, Delphine Girlich, Philippe Ichai, Marc Boudon, Didier Samuel, Elodie Creton, Dilek Imanci, Rémy Bonnin, Nicolas Fortineau, Thierry Naas
Objectives: Patient- and procedure-related changes in modern medicine have turned CoNS into one of the major nosocomial pathogens. Treatments of CoNS infections are challenging owing to the large proportion of MDR strains and oxazolidinones often remain the last active antimicrobial molecules. Here, we have investigated a long-lasting outbreak (2010-13) due to methicillin- and linezolid-resistant (LR) CoNS (n = 168), involving 72 carriers and 49 infected patients. Methods: Antimicrobial susceptibilities were tested by the disc diffusion method and MICs were determined by broth microdilution or Etest...
October 30, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29080023/bidirectional-effects-of-mother-young-contact-on-the-maternal-and-neonatal-brains
#5
Gabriela González-Mariscal, Angel I Melo
Adaptive plasticity occurs intensely during the early postnatal period through processes like proliferation, migration, differentiation, synaptogenesis, myelination and apoptosis. Exposure to particular stimuli during this critical period has long-lasting effects on cognition, stress reactivity and behavior. Maternal care is the main source of social, sensory and chemical stimulation to the young and is, therefore, critical to "fine-tune" the offspring's neural development. Mothers providing a low quantity or quality of stimulation produce offspring that will exhibit reduced cognitive performance, impaired social affiliation and increased agonistic behaviors...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29056275/current-and-future-applications-of-novel-immunotherapies-in-urological-oncology-a-critical-review-of-the-literature
#6
REVIEW
Berna C Özdemir, Arlene O Siefker-Radtke, Matthew T Campbell, Sumit K Subudhi
CONTEXT: Immunotherapies promote anticancer responses with varying levels of success based on the tumor type. OBJECTIVE: In this narrative review article, we searched the literature regarding immunotherapies in genitourinary malignancies to define the state of the field, explore future applications of immune checkpoint inhibitors, cytokines, vaccines, and cellular therapies in urological oncology and evaluate possible strategies to improve the selection of patients who might benefit from such approaches...
October 19, 2017: European Urology Focus
https://www.readbyqxmd.com/read/29053644/dental-approach-for-apert-syndrome-in-children-a-systematic-review
#7
A-S López-Estudillo, M-A Rosales-Bérber, S Ruiz-Rodríguez, A Pozos-Guillén, M-Á Noyola-Frías, A Garrocho-Rangel
BACKGROUND: Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS...
November 1, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29045513/dpyd-genotype-guided-dose-individualization-to-improve-patient-safety-of-fluoropyrimidine-therapy-call-for-a-drug-label-update
#8
L M Henricks, F L Opdam, J H Beijnen, A Cats, J H M Schellens
The fluoropyrimidine anticancer drugs, especially 5-fluorouracil (5-FU) and capecitabine, are frequently prescribed for several types of cancer, including breast, colorectal, head and neck and gastric cancer. In the current drug labels of 5-FU and capecitabine in the European Union and the United States of America no adaptive dosing strategies are incorporated for polymorphic metabolism of 5-FU.Although treatment with fluoropyrimidines is generally well tolerated, a major clinical limitation is that a proportion of the treated population experiences severe, sometimes life-threatening, fluoropyrimidine-related toxicity...
August 2, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29035945/the-functional-consequences-of-the-microbiome-in-hiv-insights-from-metabolomic-studies
#9
Sergio Serrano-Villar, Santiago Moreno, Manuel Ferrer
PURPOSE OF REVIEW: It is critical to gain insight into the metabolic pathways by which the microbiota might influence HIV immunopathogenesis to exploit host-microbiota interactions. The aim of this review is to sketch a very broad picture of recent advances in our knowledge of how HIV might affect the microbiota, with a focus on specific gene products, particularly, metabolites produced by the microbiota that may affect HIV immunopathogenesis. RECENT FINDINGS: First, we describe the different approaches used to explore imbalances in effector microbial products during HIV infection...
October 14, 2017: Current Opinion in HIV and AIDS
https://www.readbyqxmd.com/read/29035085/lung-microbiota-is-related-to-smoking-status-and-to-development-of-ards-in-critically-ill-trauma-patients
#10
Ariane R Panzer, Susan V Lynch, Chaz Langelier, Jason D Christie, Kathryn McCauley, Mary Nelson, Christopher K Cheung, Neal L Benowitz, Mitchell J Cohen, Carolyn S Calfee
RATIONALE: Cigarette smoking is associated with increased risk of acute respiratory distress syndrome (ARDS) in patients following severe trauma; however, mechanisms underlying this association are unknown. OBJECTIVES: To determine whether cigarette smoking contributes to ARDS development following trauma by altering community composition of the lung microbiota Methods: We studied lung microbiota of mechanically ventilated patients admitted to the intensive care unit (ICU) following severe blunt trauma using 16S rRNA gene amplicon sequencing of endotracheal aspirate (ETA) samples obtained upon ICU admission (n=74) and at 48 hours post-admission (n=30)...
October 16, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29021995/tumor-induced-osteomalacia
#11
Pablo Florenzano, Rachel I Gafni, Michael T Collins
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome clinically characterized by bone pain, fractures and muscle weakness. It is caused by tumoral overproduction of fibroblast growth factor 23 (FGF23) that acts primarily at the proximal renal tubule, decreasing phosphate reabsorption and 1α-hydroxylation of 25 hydroxyvitamin D, thus producing hypophosphatemia and osteomalacia. Lesions are typically small, benign mesenchymal tumors that may be found in bone or soft tissue, anywhere in the body...
December 2017: Bone Reports
https://www.readbyqxmd.com/read/29017890/faulty-brca1-brca2-genes-how-poor-is-the-prognosis
#12
REVIEW
John O'Quigley
We take a critical look at the meaning behind the number 87% given to 25-year-old Sophie, a BRCA1 and BRCA2 carrier. Sophie has been told she has an 87% chance of getting breast cancer. She is contemplating a preventive double mastectomy after genetic counseling and her physician's advice. Some 92% of British general practitioners are in favor of prophylactic mastectomy as a treatment option for women similar to Sophie. The treatment decision results, to a very large extent, from the size of the number (87%) alone...
October 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/28988019/acute-intermittent-porphyria-after-right-hemi-colectomy
#13
Shadi Alshammary, Reem Al Dulaijan, Khaldoon Saleh, Hazem Zakaria, Ahmed Eldamati, Norah Alwakeel, Abdulmohsen Al-Mulhim
INTRODUCTION: Acute intermittent porphyria is a rare autosomal dominant metabolic disease. It is caused by a genetic mutation that results in deficiency of porphobilinogen deaminase enzyme, the third enzyme in heme biosynthesis. Acute intermittent porphyria precipitated by surgery is very rare. CASE PRESENTATION: We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28980668/potential-and-pitfalls-in-the-genetic-diagnosis-of-kidney-diseases
#14
Anne Kesselheim, Emma Ashton, Detlef Bockenhauer
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier. The article by Ars and Torra in this issue of the Clinical Kidney Journal provides examples of the ever-increasing ability to understand a given patient's disease on the molecular level, so that in some cases not only the causative variants in a disease gene are identified, but also potential modifiers in other genes...
October 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28978010/the-network-of-dab2ip-mir-138-in-regulating-drug-resistance-of-renal-cell-carcinoma-associated-with-stem-like-phenotypes
#15
Eun-Jin Yun, Jiancheng Zhou, Chun-Jung Lin, Shan Xu, John Santoyo, Elizabeth Hernandez, Chih-Ho Lai, Ho Lin, Dalin He, Jer-Tsong Hsieh
Targeted therapy is a standard of care for metastatic renal cell carcinoma (RCC) but the response rate is not overwhelmed, which only prolongs a short survival of patients due to the onset of therapeutic resistance. Although the mechanisms are not fully understood, the presence of cancer initiating cells (CIC) may underlie the drug resistance. Nevertheless, identifying CIC phenotypes with its biomarkers in RCC appear to be diverse and controversial from many reports. In this study, we took a different approach to focus on the regulatory mechanism in RCC-CIC and unveil DAB2IP-mediated miR-138 expression that plays a critical role in modulating stem-like phenotypes in RCC via targeting the ABC transporter (ABCA13) as well as oncogenic histone methyltransferase EZH2 while down regulation of miR-138 gene expression in RCC is due to epigenetic gene silencing by DNA methyltransferase 1 (DNMT1)...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28977906/trypsin-protease-activated-receptor-2-signaling-contributes-to-pancreatic-cancer-pain
#16
Jiao Zhu, Xue-Rong Miao, Kun-Ming Tao, Hai Zhu, Zhi-Yun Liu, Da-Wei Yu, Qian-Bo Chen, Hai-Bo Qiu, Zhi-Jie Lu
Pain treatment is a critical aspect of pancreatic cancer patient clinical care. This study investigated the role of trypsin-protease activated receptor-2 (PAR-2) in pancreatic cancer pain. Pancreatic tissue samples were collected from pancreatic cancer (n=22) and control patients (n=22). Immunofluorescence analyses confirmed colocalization of PAR-2 and neuronal markers in pancreatic cancer tissues. Trypsin levels and protease activities were higher in pancreatic cancer tissue specimens than in the controls...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28975368/obesogenic-endocrine-disruptors-and-obesity-myths-and-truths
#17
REVIEW
Giovanna Muscogiuri, Luigi Barrea, Daniela Laudisio, Silvia Savastano, Annamaria Colao
Obesogenic endocrine disruptors, also known as obesogens, are chemicals potentially involved in weight gain by altering lipid homeostasis and promoting adipogenesis and lipid accumulation. They included compounds to which human population is exposed over daily life such as pesticides/herbicides, industrial and household products, plastics, detergents and personal care products. The window of life during which the exposure happens could lead to different effects. A critical window is during utero and/or neonatal period in which the obesogens could cause subtle changes in gene expression and tissue organization or blunt other levels of biological organization leading to increased susceptibility to diseases in the adulthood...
October 3, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28974199/tissue-aware-rna-seq-processing-and-normalization-for-heterogeneous-and-sparse-data
#18
Joseph N Paulson, Cho-Yi Chen, Camila M Lopes-Ramos, Marieke L Kuijjer, John Platig, Abhijeet R Sonawane, Maud Fagny, Kimberly Glass, John Quackenbush
BACKGROUND: Although ultrahigh-throughput RNA-Sequencing has become the dominant technology for genome-wide transcriptional profiling, the vast majority of RNA-Seq studies typically profile only tens of samples, and most analytical pipelines are optimized for these smaller studies. However, projects are generating ever-larger data sets comprising RNA-Seq data from hundreds or thousands of samples, often collected at multiple centers and from diverse tissues. These complex data sets present significant analytical challenges due to batch and tissue effects, but provide the opportunity to revisit the assumptions and methods that we use to preprocess, normalize, and filter RNA-Seq data - critical first steps for any subsequent analysis...
October 3, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28973083/use-of-exome-sequencing-for-infants-in-intensive-care-units-ascertainment-of-severe-single-gene-disorders-and-effect-on-medical-management
#19
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu, Patricia Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari J Tokita, Teresa Santiago-Sim, Hongzheng Dai, Theodore Chiang, Hadley Smith, Mahshid S Azamian, Laurie Robak, Bret L Bostwick, Christian P Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A Bacino, Neil A Hanchard, Michael F Wangler, Daryl Scott, Chester Brown, Jianhong Hu, John W Belmont, Lindsay C Burrage, Brett H Graham, Vernon Reid Sutton, William J Craigen, Sharon E Plon, James R Lupski, Arthur L Beaudet, Richard A Gibbs, Donna M Muzny, Marcus J Miller, Xia Wang, Magalie S Leduc, Rui Xiao, Pengfei Liu, Chad Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M Eng, Yaping Yang, Seema R Lalani
Importance: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined. Objective: To determine the diagnostic yield and use of clinical exome sequencing in critically ill infants. Design, Setting, and Participants: Clinical exome sequencing was performed for 278 unrelated infants within the first 100 days of life who were admitted to Texas Children's Hospital in Houston, Texas, during a 5-year period between December 2011 and January 2017...
October 2, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28968258/anesthetic-considerations-for-a-child-with-rare-b3galt6-mutations-a-case-report
#20
Megan Brockel, Kathryn Chatfield, David Mirsky, Christopher D Baker, Norah Janosy
A rare autosomal recessive disorder caused by mutations in the B3GALT6 gene on chromosome 1p36 results in deficiency of β-1,3-galactosyltransferase 6, an enzyme critical for glycosaminoglycan biosynthesis. Defects in this gene result in a phenotype that has features of both skeletal dysplasia and a connective tissue disorder. The anesthetic considerations for children with this disorder have not previously been described. We report a collaborative, multidisciplinary approach to the perioperative care of a child with B3GALT6 mutations with severe phenotypic expression...
September 29, 2017: A & A Case Reports
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