keyword
MENU ▼
Read by QxMD icon Read
search

Recurrent strike

keyword
https://www.readbyqxmd.com/read/29789371/identification-of-new-risk-factors-for-rolandic-epilepsy-cnv-at-xp22-31-and-alterations-at-cholinergic-synapses
#1
Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan, Silvia Cossu, Jacqueline Taylor, Cigdem I Akman, Steven M Wolf, David E Mandelbaum, Rajesh Gupta, Rick A van der Spek, Dario Pruna, Deb K Pal
BACKGROUND: Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in GRIN2A accounting for >5% of cases. OBJECTIVE: To identify rare, causal CNV in patients with RE. METHODS: We used high-density SNP arrays to analyse the presence of rare CNVs in 186 patients with RE from the UK, the USA, Sardinia, Argentina and Kerala, India...
May 22, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29784936/multiple-convergent-supergene-evolution-events-in-mating-type-chromosomes
#2
Sara Branco, Fantin Carpentier, Ricardo C Rodríguez de la Vega, Hélène Badouin, Alodie Snirc, Stéphanie Le Prieur, Marco A Coelho, Damien M de Vienne, Fanny E Hartmann, Dominik Begerow, Michael E Hood, Tatiana Giraud
Convergent adaptation provides unique insights into the predictability of evolution and ultimately into processes of biological diversification. Supergenes (beneficial gene linkage) are striking examples of adaptation, but little is known about their prevalence or evolution. A recent study on anther-smut fungi documented supergene formation by rearrangements linking two key mating-type loci, controlling pre- and post-mating compatibility. Here further high-quality genome assemblies reveal four additional independent cases of chromosomal rearrangements leading to regions of suppressed recombination linking these mating-type loci in closely related species...
May 21, 2018: Nature Communications
https://www.readbyqxmd.com/read/29779874/a-gabaergic-feedback-shapes-dopaminergic-input-on-the-drosophila-mushroom-body-to-promote-appetitive-long-term-memory
#3
Alice Pavlowsky, Johann Schor, Pierre-Yves Plaçais, Thomas Preat
Memory consolidation is a crucial step for long-term memory (LTM) storage. However, we still lack a clear picture of how memory consolidation is regulated at the neuronal circuit level. Here, we took advantage of the well-described anatomy of the Drosophila olfactory memory center, the mushroom body (MB), to address this question in the context of appetitive LTM. The MB lobes, which are made by the fascicled axons of the MB intrinsic neurons, are organized into discrete anatomical modules, each covered by the terminals of a defined type of dopaminergic neuron (DAN) and the dendrites of a corresponding type of MB output neuron (MBON)...
May 9, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29739972/cell-type-specific-expression-of-oncogenic-and-tumor-suppressive-micrornas-in-the-human-prostate-and-prostate-cancer
#4
Binod Kumar, Avi Z Rosenberg, Su Mi Choi, Karen Fox-Talbot, Angelo M De Marzo, Larisa Nonn, W Nathaniel Brennen, Luigi Marchionni, Marc K Halushka, Shawn E Lupold
MiR-1 and miR-143 are frequently reduced in human prostate cancer (PCa), while miR-141 and miR-21 are frequently elevated. Consequently, these miRNAs have been studied as cell-autonomous tumor suppressors and oncogenes. However, the cell-type specificity of these miRNAs is not well defined in prostate tissue. Through two different microdissection techniques, and droplet digital RT-PCR, we quantified these miRNAs in the stroma and epithelium of radical prostatectomy specimens. In contrast to their purported roles as cell-autonomous tumor suppressors, we found miR-1 and miR-143 expression to be predominantly stromal...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#5
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29717233/diverse-developmental-pathways-of-intestinal-intraepithelial-lymphocytes
#6
REVIEW
Benjamin D McDonald, Bana Jabri, Albert Bendelac
The intestinal epithelial barrier is patrolled by resident intraepithelial lymphocytes (IELs) that are involved in host defence against pathogens, wound repair and homeostatic interactions with the epithelium, microbiota and nutrients. Intestinal IELs are one of the largest populations of lymphocytes in the body and comprise several distinct subsets, the identity and lineage relationships of which have long remained elusive. Here, we review advances in unravelling the complexity of intestinal IEL populations, which comprise conventional αβ T cell receptor (TCRαβ)+ subsets, unconventional TCRαβ+ and TCRγδ+ subsets, group 1 innate lymphoid cells (ILC1s) and ILC1-like cells...
May 1, 2018: Nature Reviews. Immunology
https://www.readbyqxmd.com/read/29625335/cerebrospinal-fluid-il-10-as-an-early-stage-discriminative-marker-between-multiple-sclerosis-and-neuro-beh%C3%A3-et-disease
#7
Meriam Belghith, Khadija Bahrini, Mariem Kchaou, Olfa Maghrebi, Samir Belal, Mohamed Ridha Barbouche
Multiple Sclerosis (MS) and Neuro-Behçet's Disease (NBD) are two recurrent disorders affecting the central nervous system (CNS) by causing inflammation and irreversible damage. Inaugural clinical symptoms for both diseases might be very similar and definitive diagnosis could be delayed. The present study aimed to find out possible differences at early stages in the transcription factors/cytokines expression profiles in blood and cerebrospinal fluid (CSF) of MS and NBD patients which could be useful discriminative markers...
April 3, 2018: Cytokine
https://www.readbyqxmd.com/read/29617362/a-novel-approach-to-improve-immune-effector-responses-post-transplant-by-restoration-of-ccl21-expression
#8
Heather E Stefanski, Leslie Jonart, Emily Goren, James J Mulé, Bruce R Blazar
Chemotherapy or chemoradiotherapy conditioning regimens required for bone marrow transplantation (BMT) cause significant morbidity and mortality as a result of insufficient immune surveillance mechanisms leading to increased risks of infection and tumor recurrence. Such conditioning causes host stromal cell injury, impairing restoration of the central (thymus) and peripheral (spleen and lymph node) T cell compartments and slow immune reconstitution. The chemokine, CCL21, produced by host stromal cells, recruits T- and B-cells that provide lymphotoxin mediated instructive signals to stromal cells for lymphoid organogenesis...
2018: PloS One
https://www.readbyqxmd.com/read/29606318/kleine-levin-syndrome-a-neuropsychiatric-disorder
#9
REVIEW
I Arnulf, E Groos, P Dodet
Kleine-Levin syndrome (KLS) is a rare, relapsing-remitting disease that affects mostly adolescents. It is characterized by episodes lasting from 1 to several weeks, and comprises neurological (hypersomnia, confusion, slowness, amnesia) and neuropsychiatric symptoms (derealization and apathy). Some psychiatric symptoms (megaphagia, hypersexuality, anxiety, depressed mood, hallucinations, delusions) arise during episodes, albeit less frequently, while patients are normal between episodes. However, sudden severe (>18h/day of sleep) and recurrent hypersomnia helps to differentiate KLS from other psychiatric mimics...
March 30, 2018: Revue Neurologique
https://www.readbyqxmd.com/read/29553956/management-of-pilonidal-disease
#10
Michelle P Kallis, Caroline Maloney, Aaron M Lipskar
PURPOSE OF REVIEW: Pilonidal disease, and the treatment associated with it, can cause significant morbidity and substantial burden to patients' quality of life. Despite the plethora of surgical techniques that have been developed to treat pilonidal disease, discrepancies in technique, recurrence rates, complications, time to return to work/school and patients' aesthetic satisfaction between treatment options have led to controversy over the best approach to this common acquired disease of young adults...
June 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29531761/clinically-feasible-stratification-of-1-year-to-3-year-post-myocardial-infarction-risk
#11
Benjamin D Horne, Joseph B Muhlestein, Durgesh Bhandary, Greta L Hoetzer, Naeem D Khan, Tami L Bair, Donald L Lappé
Objective: Post-myocardial infarction (MI) care is crucial to preventing recurrent major adverse cardiovascular events (MACE), but can be complicated to personalise. A tool is needed that effectively stratifies risk of cardiovascular (CV) events 1-3 years after MI but is also clinically usable. Methods: Patients surviving ≥1 year after an index MI with ≥1 risk factor for recurrent MI (ie, age ≥65 years, prior MI, multivessel coronary disease, diabetes, glomerular filtration rate <60 mL/min/1...
2018: Open Heart
https://www.readbyqxmd.com/read/29493822/detailed-analysis-of-inflammatory-cell-infiltration-and-the-prognostic-impact-on-nasopharyngeal-carcinoma
#12
Juan Lu, Xiao-Mei Chen, Hao-Ran Huang, Fei-Peng Zhao, Fan Wang, Xiong Liu, Xiang-Ping Li
BACKGROUND: One of the most striking characteristics of nasopharyngeal carcinoma (NPC) is the presence of a very abundant immune cells infiltrate containing mainly T-lymphocytes. The purpose of this study was to present our analysis providing a comprehensive characterization of antitumor inflammatory response in NPC. METHODS: The densities of 9 types of inflammatory cells were assessed in 197 patients with NPC, including CD3 + T-lymphocytes, CD8 + cytotoxic T-lymphocytes, CD20 + B-lymphocytes, CD56 + natural killer (NK) cells, FOXP3 + regulatory T-lymphocytes, CD1a + immature dendritic cells, CD83 + mature dendritic cells, neutrophil elastase + neutrophils, and tryptase + mast cells...
March 1, 2018: Head & Neck
https://www.readbyqxmd.com/read/29454008/temozolomide-affects-extracellular-vesicles-released-by-glioblastoma-cells
#13
Gwennan André-Grégoire, Nicolas Bidère, Julie Gavard
Glioblastoma multiforme (GBM) is the most aggressive primary tumour within the brain as well as the most common and lethal cerebral cancer, mainly because of treatment failure. Indeed, tumour recurrence is inevitable and fatal in a short period of time. Glioblastoma stem-like cells (GSCs) are thought to participate in tumour initiation, expansion, resistance to treatments, including to the alkylating chemotherapeutic agent temozolomide, and relapse. Here, we assessed whether extracellular vesicles (EVs) released by GSCs could disseminate factors involved in resistance mechanisms...
February 15, 2018: Biochimie
https://www.readbyqxmd.com/read/29437909/when-lightning-strikes-twice-in-pediatrics-case-report-and-review-of-recurrent-myocarditis
#14
Alisha Floyd, Ashwin Lal, Kimberly Molina, Michael Puchalski, Dylan Miller, Lindsay May
Myocarditis is an important but incompletely understood cause of cardiac dysfunction. Children with fulminant myocarditis often require inotropic or mechanical circulatory support, and researchers in some studies suggest that up to 42% of children who die suddenly have evidence of myocarditis. Recurrent myocarditis is extremely rare, and the vast majority of reported cases involve adult patients. Pediatric providers who suspect a recurrence of myocarditis have limited evidence to guide patient management because the literature in this domain is sparse...
February 8, 2018: Pediatrics
https://www.readbyqxmd.com/read/29428954/tumour-heterogeneity-of-breast-cancer-from-morphology-to-personalised-medicine
#15
Mohammed A Aleskandarany, Michel E Vandenberghe, Caterina Marchiò, Ian O Ellis, Anna Sapino, Emad A Rakha
Breast cancer (BC) displays striking clinical, morphological, and behavioural diversity within a single tumour and between tumours. Currently, mounting evidence indicates that the morphological heterogeneity of BC reflects an underlying spectrum of genetic and epigenetic portraits that control BC behaviour. Further understanding of BC heterogeneity will have an impact, not only on the routine diagnostic practices but also on patients' management decisions. Phenomena like diagnostic inconsistencies and therapeutic resistance, both primary and acquired, could be attributed, at least in part, to tumour heterogeneity within the same cancer and between the primary disease and subsequent recurrences...
February 10, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29388014/the-landscape-of-genetic-alterations-in-ameloblastomas-relates-to-clinical-features
#16
Sibel Elif Gültekin, Reem Aziz, Carina Heydt, Burcu Sengüven, Joachim Zöller, Ali Farid Safi, Matthias Kreppel, Reinhard Buettner
Ameloblastoma is a mostly benign, but locally invasive odontogenic tumor eliciting frequent relapses and significant morbidity. Recently, mutually exclusive mutations in BRAF and SMO were identified causing constitutive activation of MAPK and hedgehog signaling pathways. To explore further such clinically relevant genotype-phenotype correlations, we here comprehensively analyzed a large series of ameloblastomas (98 paraffin block of 76 patients) with respect to genomic alterations, clinical presentation, and histological features collected from the archives of three different pathology centers in France, Germany, and Turkey...
February 1, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29372435/trunk-reaction-time-and-kinematic-changes-following-slip-perturbations-in-subjects-with-recurrent-low-back-pain
#17
Paul S Sung, Pamela Danial
Postural responses following slip perturbations are critical to fall prevention strategies. It is unclear how postural reactions with a handheld task can validly be transferred to treadmill-induced slip perturbations in subjects with recurrent low back pain (LBP). The purpose of this study was to investigate trunk reaction times and trunk flexion angle as well as velocity following the slips between subjects with and without LBP. There were 29 subjects with LBP and 40 control subjects who participated in the study...
March 2018: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/29352018/oncohistones-drivers-of-pediatric-cancers
#18
REVIEW
Faizaan Mohammad, Kristian Helin
One of the most striking results in the area of chromatin and cancer in recent years has been the identification of recurrent mutations in histone genes in pediatric cancers. These mutations occur at high frequency and lead to the expression of mutant histones that exhibit oncogenic features. Thus, they are termed oncohistones. Thus far, mutations have been found in the genes encoding histone H3 and its variants. The expression of the oncohistones affects the global chromatin landscape through mechanisms that have just begun to be unraveled...
December 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/29351633/evolutionary-genetics-of-cytoplasmic-incompatibility-genes-cifa-and-cifb-in-prophage-wo-of-wolbachia
#19
Amelia R I Lindsey, Danny W Rice, Sarah R Bordenstein, Andrew W Brooks, Seth R Bordenstein, Irene L G Newton
The bacterial endosymbiont Wolbachia manipulates arthropod reproduction to facilitate its maternal spread through host populations. The most common manipulation is cytoplasmic incompatibility (CI): Wolbachia-infected males produce modified sperm that cause embryonic mortality, unless rescued by embryos harboring the same Wolbachia. The genes underlying CI, cifA and cifB, were recently identified in the eukaryotic association module of Wolbachia's prophage WO. Here, we use transcriptomic and genomic approaches to address three important evolutionary facets of the cif genes...
February 1, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29350432/national-public-health-data-systems-in-the-united-states-applications-to-child-agricultural-injury-surveillance
#20
Barbara Marlenga, Richard L Berg, William Pickett
PURPOSE: The United States has no comprehensive national surveillance system for fatal or nonfatal child agricultural injuries. Thus, important knowledge gaps exist about recurrent injury patterns that could provide targeted focus for prevention efforts. The purpose of this study was to explore existing US public health data systems to determine their utility with respect to informing child agricultural injury surveillance and primary prevention. METHODS: Public health data systems were selected if they: (1) were national in scope, (2) were active and ongoing, (3) included physical injuries, and (4) contained a "farm" location variable...
January 19, 2018: Journal of Rural Health
keyword
keyword
30602
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"