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https://www.readbyqxmd.com/read/29161336/efficacy-of-electrical-stimulation-of-the-occipital-nerve-in-intractable-primary-headache-disorders-a-systematic-review-with-meta-analyses
#1
Robert T Cadalso, John Daugherty, Caron Holmes, Saravanan Ram, Reyes Enciso
AIMS: To determine the efficacy of occipital nerve stimulation (ONS) in reducing the intensity, duration, and frequency of medically intractable primary headaches. METHODS: A systematic review was carried out by searching three electronic databases: the Cochrane Library, MEDLINE via PubMed, and Web of Science. Randomized controlled trials (RCTs) and case series were eligible for inclusion. RCTs were assessed for quality of evidence by using the Cochrane Risk of Bias and the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) tools...
November 21, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/29161319/the-association-of-social-anxiety-disorder-alcohol-use-disorder-and-reproduction-results-from-four-nationally-representative-samples-of-adults-in-the-usa
#2
Beyon Miloyan, Adam Bulley, Ben Brilot, Thomas Suddendorf
Social Anxiety Disorder (SAD) and Alcohol Use Disorder (AUD) are highly prevalent and frequently co-occur. The results of population studies suggest that SAD tends to precede AUD, and the results of laboratory studies suggest that alcohol use facilitates social behaviors in socially anxious individuals. Therefore, we posited that, in a modern context, a tendency to consume alcohol may be positively selected for among socially anxious individuals by its effect on the likelihood of finding a partner and reproducing...
2017: PloS One
https://www.readbyqxmd.com/read/29160555/the-effect-of-sleep-disorders-sedating-medications-and-depression-on-cognitive-processing-therapy-outcomes-a-fuzzy-set-qualitative-comparative-analysis
#3
Patricia L Haynes, Sarah E Emert, Dana Epstein, Suzanne Perkins, Sairam Parthasarathy, James Wilcox
Cognitive processing therapy (CPT) for posttraumatic stress disorder (PTSD) is an effortful process requiring engagement in cognitive restructuring. Sleep disorders may lead to avoidance of effortful tasks and cognitive performance deficits. We explored whether sleep disorders, as assessed by polysomnography, were consistently associated with treatment response in combination with other factors. This study included 32 U.S. veterans who were examined both before and after CPT for combat-related PTSD. We employed a novel, case-comparative technique, fuzzy set qualitative comparative analysis (fsQCA), to identify combinations of fuzzy and crisp factors (recipes) that achieve a clinically significant outcome...
November 21, 2017: Journal of Traumatic Stress
https://www.readbyqxmd.com/read/29160545/benign-familial-fleck-retina-multimodal-imaging-including-optical-coherence-tomography-angiography
#4
Jose Mauricio Botto de Barros Garcia, David Leonardo Cruvinel Isaac, Tainara Sardeiro, Érika Aquino, Marcos Avila
This report presents multimodal imaging of a 27-year-old woman diagnosed with benign familial fleck retina (OMIM 228980), an uncommon disorder. Fundus photographs revealed retinal flecks that affected her post-equatorial retina but spared the macular area. Fundus autofluorescence and infrared imaging demonstrated a symmetrical pattern of yellow-white fleck lesions that affected both eyes. Her full-field electroretinogram and electrooculogram were normal. An optical coherence tomography B-scan was performed for both eyes, revealing increased thickness of the retinal pigmented epithelium leading to multiple small pigmented epithelium detachments...
September 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/29159441/a-meta-analysis-of-the-association-between-birth-weight-and-attention-deficit-hyperactivity-disorder
#5
REVIEW
Allison M Momany, Jaclyn M Kamradt, Molly A Nikolas
A large body of work has investigated the association between birth weight and ADHD and has resulted in mixed findings with regard to the direction and magnitude of this association. Despite the vast amount of research on this topic, a comprehensive and systematic quantification of the association between birth weight and ADHD has yet to be undertaken. A meta-analysis of 88 unique studies (N = 4,645,482) was conducted to quantify the overall effect size of birth weight on ADHD symptoms. Several variables were examined as moderators that may contribute to systematic variation in effect sizes...
November 21, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/29159404/variation-in-the-12-month-treatment-trajectories-of-children-and-adolescents-after-a-diagnosis-of-depression
#6
Nina R Joyce, Megan S Schuler, Scott E Hadland, Laura A Hatfield
Importance: Depression during childhood and adolescence is heterogeneous. Treatment patterns are often examined in aggregate, yet there is substantial variability across individual treatment trajectories. Understanding this variability can help identify treatment gaps among youths with depression. Objective: To characterize heterogeneity in 12-month trajectories of psychotherapy and antidepressant treatment in youths with depression. Design, Setting, and Participants: This is a longitudinal-cohort study of youths 18 years or younger with a new diagnosis of depression and at least 12 months of follow-up following diagnosis, as determined from commercial insurance claims filed from 2007 to 2014...
November 20, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/29159060/association-between-hippocampus-volume-and-symptom-profiles-in-obsessive-compulsive-disorder
#7
Tim Jonas Reess, Oana Georgiana Rus, Deniz A Gürsel, Benita Schmitz-Koep, Gerd Wagner, Götz Berberich, Kathrin Koch
Background: The hippocampus has recently been identified to play a key role in the pathophysiology of adult obsessive-compulsive disorder (OCD). Surprisingly, there is only limited evidence regarding the potential relationships with symptom dimensions. Due to the heterogeneity of symptoms in OCD, we aimed at further examining, whether hippocampal volume differences might be related to symptom profiles instead of single symptom dimensions. Methods: In order to find out more about the potential association between clinical symptom profiles and alterations in hippocampal volume we categorized a large sample of OCD patients (N = 66) into distinct symptom profile groups using K-means clustering...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29158767/screening-of-shox-gene-sequence-variants-in-saudi-arabian-children-with-idiopathic-short-stature
#8
Abdulla A Alharthi, Ehab I El-Hallous, Iman M Talaat, Hamed A Alghamdi, Matar I Almalki, Ahmed Gaber
Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations...
October 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29158550/exome-pool-seq-in-neurodevelopmental-disorders
#9
Bernt Popp, Arif B Ekici, Christian T Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this problem we applied Exome Pool-Seq as an economic and fast screening technology in neurodevelopmental disorders (NDDs). Sequencing of 96 individuals can be performed in eight pools of 12 samples on less than one Illumina sequencer lane. In a pilot study with 96 cases we identified 27 variants, likely or possibly affecting function...
November 20, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29157619/diagnosis-of-castleman-disease
#10
REVIEW
Raphaël Szalat, Nikhil C Munshi
Castleman disease (CD) is a rare and heterogenous group of disorders sharing in common an abnormal lymph node pathology. CD comprises distinct subtypes with different prognoses. Unicentric CD and multicentric CD are featured by specific systemic manifestations and may be associated with Kaposi sarcoma, non-Hodgkin and Hodgkin lymphoma, and POEMS syndrome. Multicentric CD is classically associated with systemic symptoms and poorer prognosis. In this article, the authors review how to diagnose the disease, keeping in context the clinical findings, biochemical changes and complications associated with CD...
February 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29157613/castleman-disease-pathogenesis
#11
REVIEW
David C Fajgenbaum, Dustin Shilling
Castleman disease (CD) describes a group of heterogeneous disorders with common lymph node histopathologic features, including atrophic or hyperplastic germinal centers, prominent follicular dendritic cells, hypervascularization, polyclonal lymphoproliferation, and/or polytypic plasmacytosis. The cause and pathogenesis of the four subtypes of CD (unicentric CD; human herpesvirus-8-associated multicentric CD; polyradiculoneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes [POEMS]-associated multicentric CD; and idiopathic multicentric CD) vary considerably...
February 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29156830/fbn3-gene-involved-in-pathogenesis-of-a-chinese-family-with-bardet-biedl-syndrome
#12
Yun Wang, Abir Garraoui, Liuzhi Zeng, Mingying Lai, Fen He, Huaizhou Wang, Chongyi Jiang, Yulan Chen, Lanlan Dai, Ning Fan, Huanming Yang, Jianguo Zhang, Xuyang Liu
Purpose: This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS). Methods: All the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sanger sequencing. Results: Patients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156239/examining-the-effects-of-alcohol-on-gabaa-receptor-mrna-expression-and-function-in-neural-cultures-generated-from-control-and-alcohol-dependent-donor-induced-pluripotent-stem-cells
#13
Richard Lieberman, Henry R Kranzler, Eric S Levine, Jonathan Covault
Factors influencing the development of alcohol-use disorder (AUD) are complex and heterogeneous. While animal models have been crucial to identifying actions of alcohol on neural cells, human-derived in vitro systems that reflect an individual's genetic background hold promise in furthering our understanding of the molecular and functional effects of alcohol exposure and the pathophysiology of AUD. In this report, we utilized induced pluripotent stem cell (iPSCs)-derived neural cell cultures obtained from healthy individuals (CTLs) and those with alcohol dependence (ADs) to 1) examine the effect of 21-day alcohol exposure on mRNA expression of three genes encoding GABAA receptor subunits (GABRA1, GABRG2, and GABRD) using quantitative PCR, and 2) examine the effect of acute and chronic alcohol exposure on GABA-evoked currents using whole-cell patch-clamp electrophysiology...
August 12, 2017: Alcohol
https://www.readbyqxmd.com/read/29155938/cerebral-autoregulation-in-cardiopulmonary-bypass-surgery-a-systematic-review
#14
Juliana R Caldas, Victoria J Haunton, Ronney B Panerai, Ludhmila A Hajjar, Thompson G Robinson
Cardiopulmonary bypass surgery is associated with a high incidence of neurological complications, including stroke, delirium and cognitive impairment. The development of strategies to reduce the incidence of such neurological events has been hampered by the lack of a clear understanding of their pathophysiology. Cerebral autoregulation (CA), which describes the ability of the brain to maintain a stable cerebral blood flow over a wide range of cerebral perfusion pressures despite changes in blood pressure, is known to be impaired in various neurological disorders...
November 16, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29154746/in-vitro-and-in-vivo-activity-of-fosfomycin-alone-and-in-combination-with-rifampin-and-tigecycline-against-gram-positive-cocci-isolated-from-surgical-wound-infections
#15
Oriana Simonetti, Gianluca Morroni, Roberto Ghiselli, Fiorenza Orlando, Andrea Brenciani, Ledia Xhuvelaj, Mauro Provinciali, Annamaria Offidani, Mario Guerrieri, Andrea Giacometti, Oscar Cirioni
Complicated skin and soft tissue infections constitute a heterogeneous group of severe disorders, with surgical site infections being the most common hospital-acquired ones. The aim of our study was to investigate the synergistic and bactericidal activities of antimicrobial combinations of fosfomycin with rifampicin and tigecycline against Enterococcus faecalis, Enterococcus faecium and methicillin-resistant Staphylococcus aureus (MRSA) clinical isolates, and also to evaluate their in vivo effects in a mouse wound infection model...
November 20, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/29154612/alexithymia-is-associated-with-a-multidomain-multidimensional-failure-of-interoception-evidence-from-novel-tests
#16
Jennifer Murphy, Caroline Catmur, Geoffrey Bird
Interoception, the perception of the body's internal state, contributes to numerous aspects of higher-order cognition. Several theories suggest a causal role for atypical interoception in specific psychiatric disorders, including a recent claim that atypical interoception represents a transdiagnostic impairment across disorders characterized by reduced perception of one's own emotion (alexithymia). Such theories are supported predominantly by evidence from only one interoceptive domain (cardiac); however, evidence of domain-specific interoceptive ability highlights the need to assess interoception in noncardiac domains...
November 20, 2017: Journal of Experimental Psychology. General
https://www.readbyqxmd.com/read/29153459/-intrafamilial-disruptive-behaviour-disorders-in-children-and-adolescents-present-data-and-treatment-prospects
#17
E Bousquet, N Franc, C Ha, D Purper-Ouakil
Child-to-parent violence is a form of family violence that is still a well-kept secret. Abused parents can be victims of different types of abuse. Children can use both physical and psychological violence such as financial threats to take control of the home. In this situation, parents often no longer dare to contradict their children by fear of triggering uncontrollable violence. Although the phenomenon recently drew the attention of the media, there is still little knowledge about its prevalence and clinical characteristics...
November 16, 2017: L'Encéphale
https://www.readbyqxmd.com/read/29152331/cost-effectiveness-of-massively-parallel-sequencing-for-diagnosis-of-paediatric-muscle-diseases
#18
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G MacArthur, Mark Davis, Nigel G Laing, Nigel F Clarke, Joshua Burns, Sandra T Cooper, Kathryn N North, Sarah A Sandaradura, Gina L O'Grady
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming the approach to diagnosis of rare diseases; however, evidence for cost-effectiveness is lacking. Patients presenting with suspected congenital muscular dystrophy or nemaline myopathy were ascertained over a 15-year period. Patients were investigated using traditional diagnostic approaches...
2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29152099/s149r-a-novel-mutation-in-the-abcd1-gene-causing-x-linked-adrenoleukodystrophy
#19
Fang Yan, Wenbo Wang, Hui Ying, Hongyu Li, Jing Chen, Chao Xu
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids. For the first time, we report a case of olivopontocerebellar X-ALD on the Chinese mainland. In this study, a novel mutation (c.447T>A; p.S149R) in ABCD1 was detected in a patient diagnosed with X-ALD...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29151060/genetics-of-parkinson-s-disease-and-related-disorders
#20
REVIEW
Pei-Lan Zhang, Yan Chen, Chen-Hao Zhang, Yu-Xin Wang, Pedro Fernandez-Funez
Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic markers revealing a widespread and progressive pathology. Many other neurological conditions also include parkinsonism as primary or secondary symptom, confounding their diagnosis and treatment. Although overall disease course and end-stage pathological examination single out these conditions, the significant overlaps suggest that they are part of a continuous disease spectrum...
November 18, 2017: Journal of Medical Genetics
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