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https://www.readbyqxmd.com/read/28454275/variations-in-the-multimerization-region-of-the-helicobacter-pylori-cytotoxin-caga-affect-virulence
#1
Daiva Ahire, Tricia Alston, Robert Raffaniello
Helicobacter pylori colonizes the human stomach by infecting gastric epithelial cells. It is the primary cause of peptic ulcer disease and gastric cancer (GC). Cytotoxin-associated gene A (CagA) is a virulence factor produced by H. pylori. Strains positive for the CagA protein are associated with more severe gastric diseases. The 3' region of the cagA gene exhibits heterogeneity with respect to tyrosine phosphorylation motifs (EPIYA) and CagA multimerization motifs (CM). CagA proteins are categorized as either Western or Eastern based on EPIYA sequences...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28453966/psychotherapy-for-depression-among-advanced-incurable-cancer-patients-a-systematic-review-and-meta-analysis
#2
REVIEW
Toru Okuyama, Tatsuo Akechi, Lisa Mackenzie, Toshi A Furukawa
BACKGROUND: There is a high prevalence of depressive disorder and depressive symptoms among advanced, incurable cancer patients. Patients commonly report a preference for non-pharmacological treatments such as psychotherapy over pharmacological treatments for depression. The objective of this review was to investigate the effectiveness of psychotherapy for the treatment of depression in people with advanced, incurable cancer via a meta-analysis of randomized controlled trials (RCTs). METHODS: We searched research databases and clinical trial registries for studies published prior to June 2015...
April 11, 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/28453689/periodontal-disease-edentulism-and-pancreatic-cancer-a-meta-analysis
#3
P Maisonneuve, S Amar, A B Lowenfels
Background: Periodontal disease (PD), now our commonest infectious disorder leads to tooth loss, and has been linked to various systemic diseases, including various types of cancer. The aim of this study is to provide a systematic review and a meta-analysis of the relationship between PD, edentulism, and pancreatic cancer (PC). Patients and methods: From an initial review of 327 references we selected eight studies concerning periodontitis or edentulism with sufficient quantitative information to allow us to examine the risk of PC...
May 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28449564/dehydroepiandrosterone-sulfate-level-varies-nonlinearly-with-symptom-severity-in-major-depressive-disorder
#4
Dasom Uh, Hyun-Ghang Jeong, Kwang-Yeon Choi, So-Young Oh, Suji Lee, Seung-Hyun Kim, Sook-Haeng Joe
Objective: The pathophysiology of major depressive disorder (MDD) is still not well understood. Conflicting results for surrogate. biomarkers in MDD have been reported, which might be a consequence of the heterogeneity of MDD patients. Therefore, we aim to investigate how the severity of depression and various symptom domains are related to the levels of dehydroepiandrosterone sulfate (DHEA-s) in MDD patients. Methods: We recruited 117 subjects from a general practice...
May 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28449065/a-homozygous-missense-mutation-in-eral1-encoding-a-mitochondrial-rrna-chaperone-causes-perrault-syndrome
#5
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded mutations in the known PS genes, but identified a single homozygous mutation in the ERAL1 gene (c.707A>T; p...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448599/simulation-of-the-dynamics-of-primary-immunodeficiencies-in-cd4-t-cells
#6
Gabriel N Teku, Mauno Vihinen
Primary immunodeficiencies (PIDs) form a large and heterogeneous group of mainly rare disorders that affect the immune system. T-cell deficiencies account for about one-tenth of PIDs, most of them being monogenic. Apart from genetic and clinical information, lots of other data are available for PID proteins and genes, including functions and interactions. Thus, it is possible to perform systems biology studies on the effects of PIDs on T-cell physiology and response. To achieve this, we reconstructed a T-cell network model based on literature mining and TPPIN, a previously published core T-cell network, and performed semi-quantitative dynamic network simulations on both normal and T-cell PID failure modes...
2017: PloS One
https://www.readbyqxmd.com/read/28447100/f7-gene-variants-modulate-protein-levels-in-a-large-cohort-of-patients-with-factor-vii-deficiency-results-from-a-genotype-phenotype-study
#7
Gabriele Quintavalle, Federica Riccardi, Gianna Franca Rivolta, Davide Martorana, Caterina Di Perna, Antonio Percesepe, Annarita Tagliaferri
Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores...
April 27, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28446910/are-mast-cells-masters-in-cancer
#8
REVIEW
Gilda Varricchi, Maria Rosaria Galdiero, Stefania Loffredo, Giancarlo Marone, Raffaella Iannone, Gianni Marone, Francescopaolo Granata
Prolonged low-grade inflammation or smoldering inflammation is a hallmark of cancer. Mast cells form a heterogeneous population of immune cells with differences in their ultra-structure, morphology, mediator content, and surface receptors. Mast cells are widely distributed throughout all tissues and are stromal components of the inflammatory microenvironment that modulates tumor initiation and development. Although canonically associated with allergic disorders, mast cells are a major source of pro-tumorigenic (e...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28446635/a-motif-and-amino-acid-bias-bioinformatics-pipeline-to-identify-hydroxyproline-rich-glycoproteins
#9
Kim L Johnson, Andrew M Cassin, Andrew Lonsdale, Antony Bacic, Monika Susanne Doblin, Carolyn J Schultz
Intrinsically disordered proteins (IDPs) are functional proteins that lack a well-defined three dimensional structure. The study of IDPs is a rapidly growing area as the crucial biological functions of more of these proteins are uncovered. In plants, IDPs are implicated in plant stress responses, signalling and regulatory processes. A superfamily of cell wall proteins, the hydroxyproline-rich glycoproteins (HRGPs), have characteristic features of IDPs. Their protein backbones are rich in the disordering amino acid proline, they contain repeated sequence motifs and extensive post-translational modifications (glycosylation) and have been implicated in many biological functions...
April 26, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28446514/autoimmune-polyendocrine-syndrome-type-1-in-an-indian-cohort-a-longitudinal-study
#10
Ghazala Zaidi, Vijayalakshmi Bhatia, Saroj Sahoo, Aditya Narayan Sarangi, Niharika Bharti, Li Zhang, Liping Yu, Daniel Eriksson, Sophie Bensing, Olle Kämpe, Nisha Bhavani, Surender K Yachha, Anil Bhansali, Alok Sachan, Vandana Jain, Nalini Shah, Rakesh Aggarwal, Amita Aggarwal, Muthuswany Srinivasan, Sarita Agarwal, Eesh Bhatia
OBJECTIVE: Autoimmune polyendocrine syndrome type 1 (APS 1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians. We studied clinical aspects and autoimmune regulator (AIRE) gene mutations in a cohort of Indian APS1 patients. DESIGN: Twenty-three patients (19 families) from six referral centres in India, diagnosed between 1996-2016, were followed for [median (range)] 4 (0...
April 26, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28445840/modification-of-cognitive-biases-related-to-posttraumatic-stress-a-systematic-review-and-research-agenda
#11
REVIEW
Marcella L Woud, Johan Verwoerd, Julie Krans
Cognitive models of Posttraumatic Stress Disorder (PTSD) postulate that cognitive biases in attention, interpretation, and memory represent key factors involved in the onset and maintenance of PTSD. Developments in experimental research demonstrate that it may be possible to manipulate such biases by means of Cognitive Bias Modification (CBM). In the present paper, we summarize studies assessing cognitive biases in posttraumatic stress to serve as a theoretical and methodological background. However, our main aim was to provide an overview of the scientific literature on CBM in (analogue) posttraumatic stress...
April 17, 2017: Clinical Psychology Review
https://www.readbyqxmd.com/read/28442576/determination-of-dendritic-spine-morphology-by-the-striatin-scaffold-protein-strn4-through-interaction-with-the-phosphatase-pp2a
#12
Lianfeng Lin, Louisa Hoi-Ying Lo, Quanwei Lyu, Kwok-On Lai
Dendritic spines are heterogeneous and exist with various morphologies. Altered spine morphology might underlie the cognitive deficits in neurodevelopmental disorders such as autism, but how different subtypes of dendritic spines are selectively maintained along development is still poorly understood. Spine maturation requires spontaneous activity of N-methyl-D-aspartate (NMDA) receptor and local dendritic protein synthesis. STRN4 (also called Zinedin) belongs to the striatin family of scaffold proteins, and some of the potential striatin-interacting proteins are encoded by autism risk genes...
April 25, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28441773/overview-of-four-functional-classification-systems-commonly-used-in-cerebral-palsy
#13
REVIEW
Andrea Paulson, Jilda Vargus-Adams
Cerebral palsy (CP) is the most common physical disability in childhood. CP comprises a heterogeneous group of disorders that can result in spasticity, dystonia, muscle contractures, weakness and coordination difficulty that ultimately affects the ability to control movements. Traditionally, CP has been classified using a combination of the motor type and the topographical distribution, as well as subjective severity level. Imprecise terms such as these tell very little about what a person is able to do functionally and can impair clear communication between providers...
April 24, 2017: Children
https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#14
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
April 26, 2017: Cardiology
https://www.readbyqxmd.com/read/28441106/jwh-122-consumption-adverse-effects-a-case-of-hallucinogen-persisting-perception-disorder-five-year-follow-up
#15
Maurizio Coppola, Raffaella Mondola
Synthetic cannabinoid receptor agonists are a heterogeneous group of psychotropic drugs functionally related to Δ9-tetrahydrocannabinol. These substances, marketed as cannabis substitutes, have been associated with numerous cases of severe intoxication and death across the world. In our article, we describe a case of hallucinogen persisting perception disorder developing in a natural cannabis user after consumption of JWH-122, a naphthoylindole largely used since 2010. Clinical symptomatology persisted for about four years and was alleviated through treatment with clonazepam...
April 25, 2017: Journal of Psychoactive Drugs
https://www.readbyqxmd.com/read/28439775/the-prognostic-significance-of-13q-deletions-of-different-sizes-in-patients-with-b-cell-chronic-lymphoproliferative-disorders-a-retrospective-study
#16
Shuhua Yi, Heng Li, Zengjun Li, Wenjie Xiong, Huimin Liu, Wei Liu, Rui Lv, Zhen Yu, Dehui Zou, Yan Xu, Gang An, Lugui Qiu
Patients with chronic lymphocytic leukemia (CLL) with 13q deletion as the sole cytogenetic abnormality usually have a favorable outcome, but the frequency of the 13q14 deletion and its impact on the outcome of other B-cell chronic lymphoproliferative disorders (BCLPDs) remain unclear. To further characterize this aberration, we investigated the prognostic significance of 13q deletion in 541 patients with BCLPDs. We performed fluorescence in situ hybridization (FISH) studies with 13q locus-specific LSI-D13S25 and LSI-RB1 probes...
April 24, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28439243/relationships-between-behavioural-addictions-and-psychiatric-disorders-what-is-known-and-what-is-yet-to-be-learned
#17
Vladan Starcevic, Yasser Khazaal
This article provides a narrative review of the relationships between several behavioural addictions [pathological gambling, problematic Internet use (PIU), problematic online gaming, compulsive sexual behaviour disorder, compulsive buying, and exercise addiction] and psychiatric disorders. Associations between most behavioural addictions and depressive and anxiety disorders are strong and seem relatively non-specific. Strong links with substance use disorders may support the notion that some people are more prone to addictive behaviours, regardless of whether these involve substances or problematic activities...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28438970/the-severity-of-vestibular-dysfunction-in-deafness-as-a-determinant-of-comorbid-hyperactivity-or-anxiety
#18
Michelle W Antoine, Sarath Vijayakumar, Nicholas McKeehan, Sherri M Jones, Jean M Hébert
Attention-deficit/hyperactivity disorder (ADHD) and anxiety-related disorders occur at rates 2-3 times higher in deaf compared with hearing children. Potential explanations for these elevated rates and the heterogeneity of behavioral disorders associated with deafness have usually focused on socio-environmental rather than biological effects. Children with the 22q11.2 deletion or duplication syndromes often display hearing loss and behavioral disorders including ADHD and anxiety-related disorders. Here, we show that mouse mutants with either a gain- or loss-of-function of the T-Box transcription factor gene, Tbx1, which lies within the 22q11...
April 24, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28438466/the-effect-of-n-acetylcysteine-nac-on-human-cognition-a-systematic-review
#19
REVIEW
David R Skvarc, Olivia M Dean, Linda K Byrne, Laura Gray, Stephen Lane, Matthew Lewis, Brisa S Fernandes, Michael Berk, Andrew Marriott
Oxidative stress, neuroinflammation and neurogenesis are commonly implicated as cognitive modulators across a range of disorders. N-acetylcysteine (NAC) is a glutathione precursor with potent antioxidant, pro-neurogenesis and anti-inflammatory properties and a favourable safety profile. A systematic review of the literature specifically examining the effect of NAC administration on human cognition revealed twelve suitable articles for inclusion: four examining Alzheimer's disease; three examining healthy participants; two examining physical trauma; one examining bipolar disorder, one examining schizophrenia, and one examining ketamine-induced psychosis...
April 21, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28438099/a-single-centre-review-of-suspected-sudden-infant-death-cases
#20
Janos Bokor, Krisztina Danics, Eszter Bencze, Eva Keller, Zoltan Szollosi
This study aimed to establish the number of deaths in infants under 1 year of age that were being reported for medico-legal examination at a single large academic centre in Hungary, as well as the method of these investigations with special emphasis on histopathology, ancillary techniques and the adherence of our current practice to international recommendations. A single-centre, retrospective audit was conducted on all suspected sudden infant death cases. After the review there were eight infectious background sudden infant death syndrome (SIDS) cases, infectious respiratory tract disease in 14 cases, cardiac septal tumour in one case, and hepatic, possibly metabolic, disorder in one case...
April 2017: Medicine, Science, and the Law
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