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https://www.readbyqxmd.com/read/28636169/a-novel-double-nucleotide-variant-in-the-ferritin-l-iron-responsive-element-in-a-finnish-patient-with-hereditary-hyperferritinaemia-cataract-syndrome
#1
Roosa-Maria Mattila, Annele Sainio, Marketta Järveläinen, Juha Pursiheimo, Hannu Järveläinen
PURPOSE: To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract syndrome (HHCS). METHODS: Genomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the FTL 5'-untranslated region of the FTL was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487-bp and 602-bp PCR amplification products with specific primers to reveal FTL IRE mutations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28635951/new-insights-into-the-imprinted-meg8-dmr-in-14q32-and-clinical-and-molecular-description-of-novel-patients-with-temple-syndrome
#2
Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle, Thomas Eggermann, Alexandra Gellhaus, Deniz Kanber, Ulrike Kordaß, Hermann-Josef Lüdecke, Sabine Purmann, Eva Rossier, Johannes van de Nes, Ilse M van der Werf, Maren Wenzel, Dagmar Wieczorek, Bernhard Horsthemke, Karin Buiting
The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially methylated regions (DMRs), the germline DLK1/MEG3 intergenic (IG)-DMR (MEG3/DLK1:IG-DMR) and the somatic MEG3-DMR (MEG3:TSS-DMR), which are methylated on the paternal and unmethylated on the maternal allele. Disruption of imprinting in the 14q32 region results in two clinically distinct imprinting disorders, Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14)...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635555/personality-disorders-patient-characteristics-and-level-of-outpatient-treatment-service
#3
Sebastian Simonsen, Torben Heinskou, Per Sørensen, Sofie Folke, Marianne Engelbrecht Lau
BACKGROUND: In this naturalistic study, patients with personality disorders (N = 388) treated at Stolpegaard Psychotherapy Center, Mental Health Services, Capital Region of Denmark were allocated to two different kinds of treatment: a standardized treatment package with a preset number of treatment hours (basic hospital service) and 2: a specialized treatment program for the most severely affected patients without a predetermined restricted number of treatment hours and significantly more individual psychotherapy (regional specialized hospital services)...
February 13, 2017: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/28635543/anxiety-modulates-the-relation-between-attention-deficit-hyperactivity-disorder-severity-and-working-memory-related-brain-activity
#4
Dennis van der Meer, Pieter J Hoekstra, Daan van Rooij, Anderson M Winkler, Hanneke van Ewijk, Dirk J Heslenfeld, Jaap Oosterlaan, Stephen V Faraone, Barbara Franke, Jan K Buitelaar, Catharina A Hartman
OBJECTIVES: Individuals with attention-deficit/hyperactivity disorder (ADHD) often have heightened levels of anxiety, which has been associated with worse performance on working memory tasks. Knowledge of the neural pathways underlying the combined presence of ADHD and anxiety may aid in a better understanding of their co-occurrence. Therefore, we investigated how anxiety modulates the effect of ADHD severity on neural activity during a visuospatial working memory (VSWM) task. METHODS: Neuroimaging data were available for 371 adolescents and young adults participating in the multicentre cohort study NeuroIMAGE (average age 17...
March 1, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28635424/genome-wide-linkage-and-haplotype-sharing-analysis-implicates-the-mcdr3-locus-as-a-candidate-region-for-a-developmental-macular-disorder-in-association-with-digit-abnormalities
#5
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
BACKGROUND: Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause significant visual impairment from childhood. Among these disorders, autosomal dominant North Carolina macular dystrophy (NCMD) has been mapped to 6q16 (MCDR1) with recent support for a non-coding disease mechanism of PRDM13. A second locus on 5p15-5p13 (MCDR3) has been implicated in a similar phenotype, but the disease-causing mechanism still remains unknown. METHODS: Two families affected by a dominant developmental macular disorder that closely resembles NCMD in association with digit abnormalities were included in the study...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635348/hope-coping-skills-and-the-prefrontal-cortex-in-alcohol-use-disorder-recovery
#6
Spencer D Bradshaw, Sterling T Shumway, Cynthia M Dsauza, Neli Morris, Nicholas D Hayes
BACKGROUND: Alcohol use disorders adversely affect individual and societal health. These disorders are a chronic brain disease, and protective factors against relapse should be studied. Prefrontal cortex (PFC) dysfunction is evident in alcohol use disorders, and research that explores recovery of the PFC in alcohol use disorders is needed, specifically in regard to how psychological and behavioral factors can augment medicalized treatments and protect against relapse. For example, hope or a belief that recovery is possible is an important cognitive construct-thought to precede behavioral action-that has been associated with relapse...
March 1, 2017: American Journal of Drug and Alcohol Abuse
https://www.readbyqxmd.com/read/28634439/inconsistency-in-abnormal-brain-activity-across-cohorts-of-adhd-200-in-children-with-attention-deficit-hyperactivity-disorder
#7
Jian-Bao Wang, Li-Jun Zheng, Qing-Jiu Cao, Yu-Feng Wang, Li Sun, Yu-Feng Zang, Hang Zhang
Many papers have shown results from the multi-site dataset of resting-state fMRI (rs-fMRI) in attention deficit hyperactivity disorder (ADHD), a data-sharing project named ADHD-200. However, few studies have illustrated that to what extent the pooled findings were consistent across cohorts. The present study analyzed three voxel-wise whole-brain metrics, i.e., amplitude of low-frequency fluctuation (ALFF), regional homogeneity (ReHo), and degree centrality (DC) based on the pooled dataset as well as individual cohort of ADHD-200...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28634246/assisted-reproductive-techniques-and-risk-of-beckwith-wiedemann-syndrome
#8
Alessandro Mussa, Cristina Molinatto, Flavia Cerrato, Orazio Palumbo, Massimo Carella, Giuseppina Baldassarre, Diana Carli, Clementina Peris, Andrea Riccio, Giovanni Battista Ferrero
BACKGROUND AND OBJECTIVES: The emerging association of assisted reproductive techniques (ART) with imprinting disorders represents a major issue in the scientific debate on infertility treatment and human procreation. We studied the prevalence of Beckwith-Wiedemann syndrome (BWS) in children conceived through ART to define the specific associated relative risk. METHODS: Patients with BWS born in Piemonte, Italy, were identified and matched with the general demographic data and corresponding regional ART registry...
June 20, 2017: Pediatrics
https://www.readbyqxmd.com/read/28633986/gray-matter-abnormalities-in-non-comorbid-medication-naive-patients-with-major-depressive-disorder-or-social-anxiety-disorder
#9
Youjin Zhao, Lizhou Chen, Wenjing Zhang, Yuan Xiao, Chandan Shah, Hongru Zhu, Minlan Yuan, Huaiqiang Sun, Qiang Yue, Zhiyun Jia, Wei Zhang, Weihong Kuang, Qiyong Gong, Su Lui
BACKGROUND: An overlap of clinical symptoms between major depressive disorder (MDD) and social anxiety disorder (SAD) suggests that the two disorders exhibit similar brain mechanisms. However, few studies have directly compared the brain structures of the two disorders. The aim of this study was to assess the gray matter volume (GMV) and cortical thickness alterations between non-comorbid medication-naive MDD patients and SAD patients. METHODS: High-resolution T1-weighted images were acquired from 37 non-comorbid MDD patients, 24 non-comorbid SAD patients and 41 healthy controls (HCs)...
June 15, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28633757/the-relationship-between-circulating-mitochondrial-dna-and-inflammatory-cytokines-in-patients-with-major-depression
#10
Yuki Kageyama, Takaoki Kasahara, Masaki Kato, Shiho Sakai, Yasuhiko Deguchi, Munehide Tani, Kenji Kuroda, Kotaro Hattori, Sumiko Yoshida, Yuichi Goto, Toshihiko Kinoshita, Koki Inoue, Tadafumi Kato
BACKGROUND: Although inflammatory cytokines are established biomarkers of mood disorders, their molecular mechanism is not known. We hypothesized that circulating mitochondrial DNA (mtDNA) contributes to inflammation and could be used as biomarkers. We investigated if circulating mtDNA level is associated with inflammatory cytokines and can be used as a biomarker of mood disorders. METHODS: Plasma mtDNA concentration was measured with real-time quantitative PCR targeting two regions of the mtDNA and plasma levels of four cytokines (GM-CSF, IL-2, IL-4, and IL-6) were measured with a multiplex immunoassay method in 109 patients with major depressive disorder (MDD)...
June 6, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28633562/advances-in-imaging-brain-metabolism
#11
Fahmeed Hyder, Douglas L Rothman
Metabolism is central to neuroimaging because it can reveal pathways by which neuronal and glial cells use nutrients to fuel their growth and function. We focus on advanced magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) methods used in brain metabolic studies. (17)O-MRS and (31)P-MRS, respectively, provide rates of oxygen use and ATP synthesis inside mitochondria, whereas (19)F-MRS enables measurement of cytosolic glucose metabolism. Calibrated functional MRI (fMRI), an advanced form of fMRI that uses contrast generated by deoxyhemoglobin, provides maps of oxygen use that track neuronal firing across brain regions...
June 21, 2017: Annual Review of Biomedical Engineering
https://www.readbyqxmd.com/read/28633499/lateralized-basal-ganglia-vulnerability-to-pesticide-exposure-in-asymptomatic-agricultural-workers
#12
Mechelle M Lewis, Nicholas W Sterling, Guangwei Du, Eun-Young Lee, Grace Shyu, Michael Goldenberg, Thomas Allen, Christy Stetter, Lan Kong, Shedra Amy Snipes, Byron C Jones, Honglei Chen, Richard B Mailman, Xuemei Huang
Background: Pesticide exposure is linked to Parkinson's disease (PD), a neurodegenerative disorder marked by dopamine cell loss in the substantia nigra of the basal ganglia (BG) that often presents asymmetrically. We previously reported that pesticide-exposed agricultural workers (AW) have nigral diffusion tensor (DTI) changes. The current study sought to confirm this finding, and explore its hemisphere and regional specificity within BG structures using an independent sample population...
June 19, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28633363/development-initial-testing-and-challenges-of-an-ecologically-valid-reward-prediction-error-fmri-task-for-alcoholism
#13
Anita Cservenka, Kelly E Courtney, Dara G Ghahremani, Kent E Hutchison, Lara A Ray
Aims: To advance translational studies of the role of reward prediction error (PE) in alcohol use disorder, the present study sought to develop and conduct an initial test of an alcohol-specific PE task paradigm using functional magnetic resonance imaging in humans. Methods: Alcohol dependent or social drinkers received small tastes of their preferred alcohol beverage or control beverage, with preceding visual cues indicating whether alcohol (or water) would be delivered...
June 14, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28633299/structural-covariance-networks-in-children-with-autism-or-adhd
#14
R A I Bethlehem, R Romero-Garcia, E Mak, E T Bullmore, S Baron-Cohen
Background: While autism and attention-deficit/hyperactivity disorder (ADHD) are considered distinct conditions from a diagnostic perspective, clinically they share some phenotypic features and have high comorbidity. Regardless, most studies have focused on only one condition, with considerable heterogeneity in their results. Taking a dual-condition approach might help elucidate shared and distinct neural characteristics. Method: Graph theory was used to analyse topological properties of structural covariance networks across both conditions and relative to a neurotypical (NT; n = 87) group using data from the ABIDE (autism; n = 62) and ADHD-200 datasets (ADHD; n = 69)...
June 13, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28633076/resting-state-functional-connectivity-of-anterior-and-posterior-hippocampus-in-posttraumatic-stress-disorder
#15
Amit Lazarov, Xi Zhu, Benjamin Suarez-Jimenez, Bret R Rutherford, Yuval Neria
Posttraumatic stress disorder (PTSD) has been associated with altered resting-state functional connectivity (rs-FC) of several brain regions within the salience (SN) and default-mode (DMN) networks, including the hippocampus. However, most rs-FC studies have not focused primarily on the hippocampus, nor have they appreciated its structural heterogeneity, despite clear evidence for a dissociation between posterior and anterior hippocampal connectivity. Here, we examine rs-FC of anterior and posterior hippocampus with key regions in the SN (amygdala, insula, and dorsal anterior cingulate cortex/pre-supplementary motor area) and DMN (ventromedial prefrontal cortex, posterior cingulate cortex, and precuneus) previously implicated in PTSD, using a seed-based approach...
June 13, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28633048/affective-traits-and-history-of-depression-are-related-to-ventral-striatum-connectivity
#16
Sophie R DelDonno, Lisanne M Jenkins, Natania A Crane, Robin Nusslock, Kelly A Ryan, Stewart A Shankman, K Luan Phan, Scott A Langenecker
INTRODUCTION: Studying remitted Major Depressive Disorder (rMDD) facilitates a better understanding of neural mechanisms for risk, given that confounding effects of active symptoms are removed. Disrupted functional connectivity has been reported in multiple networks in MDD. However, no study to date of rMDD has specifically examined connectivity of the ventral striatum (VS), a region highly implicated in reward and motivation. We investigated functional connectivity of the VS in individuals with and without a history of MDD, and in relation to affective personality traits...
June 15, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28631520/striatal-changes-underlie-mpep-mediated-suppression-of-the-acquisition-and-expression-of-pramipexole-induced-place-preference-in-an-alpha-synuclein-rat-model-of-parkinson-s-disease
#17
Simon Loiodice, Portia McGhan, Vitalina Gryshkova, Renaud Fleurance, David Dardou, Aziz Hafidi, Andre Nogueira da Costa, Franck Durif
Impulsive-compulsive disorders in Parkinson's disease patients have been described as behavioural or substance addictions including pathological gambling or compulsive medication use of dopamine replacement therapy. A substantial gap remains in the understanding of these disorders. We previously demonstrated that the rewarding effect of the D2/D3 agonist pramipexole was enhanced after repeated exposure to L-dopa and alpha-synuclein mediated dopaminergic nigral loss with specific transcriptional signatures suggesting a key involvement of the glutamatergic pathway...
June 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28631372/patient-and-provider-characteristics-related-with-prescribing-of-adhd-medication-nationwide-health-insurance-claims-database-study-in-korea
#18
Inmyung Song, Mo Se Lee, Eui-Kyung Lee, Ju-Young Shin
BACKGROUND: Little is known about the association between prescribing of attention deficit hyperactivity disorder (ADHD) medication and the patient's age, gender, and type of medical institution in Asia region. INTRODUCTION: This study investigates the prevalence and factors of diagnosis and pharmacological treatment of ADHD in the pediatric population. METHODS: Using the Korea Health Insurance database, study participants were identified as pediatric patients (≤17 years) with at least 1 diagnosis of ADHD (ICD-10, F90) from January 1, 2007 to December 31, 2011...
June 20, 2017: Asia-Pacific Psychiatry: Official Journal of the Pacific Rim College of Psychiatrists
https://www.readbyqxmd.com/read/28630777/magnetic-resonance-enterography-findings-of-intestinal-beh%C3%A3-et-disease-in-a-child
#19
Tommaso D'Angelo, Romina Gallizzi, Claudio Romano, Giuseppe Cicero, Silvio Mazziotti
Behçet's disease (BD) is a multisystem disorder of unknown aetiology, characterized by recurrent oral ulcers, genital ulcers, uveitis, skin lesions, and pathergy. Gastrointestinal disease outside the oral cavity is well recognized and usually takes the form of small intestinal ulcers, with the most significant lesions frequently occurring in the ileocaecal region. Symptoms usually include nausea, vomiting, colicky abdominal pain, and change in bowel habit and it is not unusual that patients may present late, with life-threatening complications requiring surgery...
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/28630454/treatment-with-a-non-toxic-self-replicating-anti-prion-delays-or-prevents-prion-disease-in-vivo
#20
R Diaz-Espinoza, R Morales, L Concha-Marambio, I Moreno-Gonzalez, F Moda, C Soto
Transmissible spongiform encephalopathies (TSEs) are fatal neurological disorders caused by prions, which are composed of a misfolded protein (PrP(Sc)) that self-propagates in the brain of infected individuals by converting the normal prion protein (PrP(C)) into the pathological isoform. Here, we report a novel experimental strategy for preventing prion disease based on producing a self-replicating, but innocuous PrP(Sc)-like form, termed anti-prion, which can compete with the replication of pathogenic prions...
June 20, 2017: Molecular Psychiatry
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