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Association Between Disk Position and Degenerative Bone Changes of the Temporomandibular Joints: An Imaging Study in Subjects with TMD
(2011)
10
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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
(2017)
Anne S. Bassett
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Chelsea Lowther
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Daniele Merico
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Gregory Costain
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Eva W. C. Chow
Scopus© Citations 77
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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
(2012)
Hanan E Shamseldin
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Muneera Alshammari
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Tarfa Al-Sheddi
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Mustafa A Salih
;
Hisham Alkhalidi
7Scopus© Citations 164
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International Comparisons of Behavioral and Emotional Problems in Preschool Children: Parents' Reports From 24 Societies
(2011)
Leslie A. Rescorla
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Thomas M. Achenbach
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Masha Y. Ivanova
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Valerie S. Harder
;
Laura Otten
Scopus© Citations 173 3
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Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
(2021)
Teuntje A. D. Pelgrim
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Matthijs G. Bossong
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Analía Cuiza
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Luz María Alliende
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Carlos Mena
<jats:title>Abstract</jats:title><jats:p>The 22q11 deletion syndrome is a genetic disorder associated with a high risk of developing psychosis, and is therefore considered a neurodevelopmental model for studying the pathogenesis of schizophrenia. Studies have shown that localized abnormal functional brain connectivity is present in 22q11 deletion syndrome like in schizophrenia. However, it is less clear whether these abnormal cortical interactions lead to global or regional network disorganization as seen in schizophrenia. We analyzed from a graph-theory perspective fMRI data from 40 22q11 deletion syndrome patients and 67 healthy controls, and reconstructed functional networks from 105 brain regions. Between-group differences were examined by evaluating edge-wise strength and graph theoretical metrics of local (weighted degree, nodal efficiency, nodal local efficiency) and global topological properties (modularity, local and global efficiency). Connectivity strength was globally reduced in patients, driven by a large network comprising 147 reduced connections. The 22q11 deletion syndrome network presented with abnormal local topological properties, with decreased local efficiency and reductions in weighted degree particularly in hub nodes. We found evidence for abnormal integration but intact segregation of the 22q11 deletion syndrome network. Results suggest that 22q11 deletion syndrome patients present with similar aberrant local network organization as seen in schizophrenia, and this network configuration might represent a vulnerability factor to psychosis.</jats:p>
1Scopus© Citations 2
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International perspective on healthcare provider gender bias in musculoskeletal pain management: a scoping review protocol
(2022)
Katherine Fisher Wilford
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Maria Jesus Mena-Iturriaga
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Margaret Vugrin
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Macarena Wainer
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Phillip S Sizer
<jats:sec><jats:title>Introduction</jats:title><jats:p>Chronic pain affects millions of individuals worldwide. Healthcare provider gender bias in the management of these individuals has societal and individual ramifications. Yet, a thorough and comprehensive literature summary on this topic is lacking. Therefore, this study aims to systematically: (1) identify and map the available scientific and grey literature as it relates to healthcare provider gender bias in the assessment, diagnosis and management of (chronic) musculoskeletal pain and (2) identify current gaps that necessitate further research.</jats:p></jats:sec><jats:sec><jats:title>Methods and analysis</jats:title><jats:p>This scoping review will be conducted in accordance with recent guidelines, and the results will be reported via the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. The following databases will be searched: PubMed (National Library of Medicine), Embase (Elsevier), Scopus (Elsevier), CINAHL Complete (Ovid), Academic Search Complete (Ebscohost), Pre-Prints Database (National Library of Medicine) and Rehabilitation Reference Center from inception to August 2022. Additionally, relevant grey literature will be identified. All screening will be done by two independent reviewers during two stages: first title/abstract screening followed by full-text screening. Data will be extracted from the bibliometric, study characteristics, and pain science families of variables. Results will be descriptively mapped, and the frequency of concepts, population, characteristics and other details will be narratively reported. Additionally, results will be presented in tabular and graphical form.</jats:p></jats:sec><jats:sec><jats:title>Ethics and dissemination</jats:title><jats:p>As this study will neither involve human subject participation nor utilisation of protected data, ethical approval is not required. This study’s methodological approach follows current recommendations. Study findings will be disseminated through conference presentations and international peer-review journal publication. In addition, infographics available in English, Spanish and German will be disseminated.</jats:p></jats:sec><jats:sec><jats:title>Registration details</jats:title><jats:p>This project will be registered in Open Science Framework prior to data collection.</jats:p></jats:sec>
17Scopus© Citations 1
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The genetic basis of DOORS syndrome: an exome-sequencing study
(2014)
Philippe M Campeau
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Dalia Kasperaviciute
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James T Lu
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Lindsay C Burrage
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Choel Kim
13Scopus© Citations 213
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Reduced cognitive function in patients with Parkinson disease and obstructive sleep apnea
(2017)
Victoria P. Mery
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Priti Gros
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Anne-Louise Lafontaine
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Ann Robinson
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Andrea Benedetti
<jats:sec><jats:title>Objective:</jats:title><jats:p>To assess the association between obstructive sleep apnea (OSA) and nonmotor symptoms (NMS), including cognitive dysfunction, in patients with Parkinson disease (PD).</jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p>Patients with idiopathic PD, recruited from a movement disorder clinic, underwent overnight polysomnography. OSA was defined as an apnea-hypopnea index (AHI) ≥15/h. PD severity was assessed using the Hoehn & Yahr (H&Y) scale and the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS). NMS were assessed using the Montreal Cognitive Assessment (MoCA), Epworth Sleepiness Scale (ESS), Fatigue Severity Scale, Apathy Scale, Beck Depression Inventory, Hospital Depression and Anxiety Scale, and PD sleep Scale.</jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p>Sixty-seven patients (61.2% male), mean age 64.4 (SD 9.9) years and motor MDS-UPDRS 21.9 (12.6) using levodopa equivalent dose (LED) 752.4 (714.6) mg/d, were studied. OSA occurred in 47 patients (61.6%, mean AHI 27.1/h, SD 20.2/h), and NMS in 57 patients (85%). ESS and MoCA were associated with the AHI (ESS β = 0.0670, <jats:italic>p</jats:italic> = 0.031; MoCA β = −0.0520, <jats:italic>p</jats:italic> = 0.043, adjusted for age, sex, body mass index, LED, and H&Y). ESS was associated with respiratory arousals (β = 0.1015, <jats:italic>p</jats:italic> = 0.011) and intermittent hypoxemia (β = 0.1470, <jats:italic>p</jats:italic> = 0.006). MoCA was negatively associated with respiratory arousals (β = −0.0596, <jats:italic>p</jats:italic> = 0.049) but not intermittent hypoxemia.</jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p>OSA is associated with sleepiness and cognitive dysfunction in PD, suggesting that OSA may be a reversible contributor to these NMS. Further studies will be required to evaluate whether OSA treatment can improve excessive sleepiness and cognitive dysfunction in PD.</jats:p></jats:sec>
Scopus© Citations 53 2
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Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
(2018)
Tingwei Guo
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Alexander Diacou
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Hiroko Nomaru
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Donna M McDonald-McGinn
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Matthew Hestand
1Scopus© Citations 20
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Imaging Social and Environmental Factors as Modulators of Brain Dysfunction: Time to Focus on Developing Non-Western Societies
(2019)
Nicolas A. Crossley
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Luz Maria Alliende
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Tomas Ossandon
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Carmen Paz Castañeda
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Alfonso González-Valderrama
2Scopus© Citations 17

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