keyword
MENU ▼
Read by QxMD icon Read
search

disordered region

keyword
https://www.readbyqxmd.com/read/28109013/investigation-of-genetic-defects-in-severe-combined-immunodeficiency-patients-from-turkey-by-targeted-sequencing
#1
Baran Erman, Ivan Bilic, Tatjana Hirschmugl, Elisabeth Salzer, Heidrun Boztug, Özden Sanal, Deniz Çağdaş Ayvaz, Ilhan Tezcan, Kaan Boztug
Primary immunodeficiencies (PIDs) represent a large group of disorders with an increased susceptibility to infections. Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) with marked T-cell lymphopenia. Investigation of the genetic etiology using classical Sanger sequencing is associated with considerable diagnostic delay. We here established a custom-designed, next generation sequencing-based panel to efficiently identify disease-causing genetic defects in PID patients and applied this method in SCID patients of Turkish origin with previously undefined genetic etiology...
January 21, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28108849/toll-like-receptor-4-affects-the-cerebral-biochemical-changes-induced-by-mptp-treatment
#2
Carmela Conte, Luca Roscini, Roccaldo Sardella, Giuseppina Mariucci, Stefania Scorzoni, Tommaso Beccari, Laura Corte
The etiology and pathogenesis of Parkinson's disease (PD) are still unclear. However, multiple lines of evidence suggest a critical role of the toll like receptor 4 (TLR4) in inflammatory response and neuronal death. Neuroinflammation may be associated with the misfolding and aggregation of proteins accompanied by a change in their secondary structure. Recent findings also suggest that biochemical perturbations in cerebral lipid content could contribute to the pathogenesis of central nervous system (CNS) disorders, including PD...
January 21, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28108742/altered-brain-structural-networks-in-attention-deficit-hyperactivity-disorder-children-revealed-by-cortical-thickness
#3
Tian Liu, Yanni Chen, Chenxi Li, Youjun Li, Jue Wang
This study investigated the cortical thickness and topological features of human brain anatomical networks related to attention deficit/hyperactivity disorder. Data were collected from 40 attention deficit/hyperactivity disorder children and 40 normal control children. Interregional correlation matrices were established by calculating the correlations of cortical thickness between all pairs of cortical regions (68 regions) of the whole brain. Further thresholds were applied to create binary matrices to construct a series of undirected and unweighted graphs, and global, local, and nodal efficiencies were computed as a function of the network cost...
January 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28108639/prevalence-of-epilepsy-seizures-as-a-comorbidity-of-neurologic-disorders-in-nursing-homes
#4
Angela K Birnbaum, Ilo E Leppik, Kenneth Svensden, Lynn E Eberly
OBJECTIVE: To determine the prevalence of epilepsy/seizure (epi/sz) comorbid with other neurologic disorders in elderly nursing home residents and to examine demographic and regional variability and associations with clinical characteristics. METHODS: We studied 5 cross-sectional cohorts of all residents in any Medicare/Medicaid-certified nursing home in the United States on July 15 of each year from 2003 to 2007. Epi/sz was identified by ICD-9 codes (345.xx or 780...
January 20, 2017: Neurology
https://www.readbyqxmd.com/read/28108491/transcriptome-analysis-identifies-multifaceted-regulatory-mechanisms-dictating-a-genetic-switch-from-neuronal-network-establishment-to-maintenance-during-postnatal-prefrontal-cortex-development
#5
Yvet Kroeze, Martin Oti, Ellen van Beusekom, Roel H M Cooijmans, Hans van Bokhoven, Sharon M Kolk, Judith R Homberg, Huiqing Zhou
The prefrontal cortex (PFC) is one of the latest brain regions to mature, which allows the acquisition of complex cognitive abilities through experience. To unravel the underlying gene expression changes during postnatal development, we performed RNA-sequencing (RNA-seq) in the rat medial PFC (mPFC) at five developmental time points from infancy to adulthood, and analyzed the differential expression of protein-coding genes, long intergenic noncoding RNAs (lincRNAs), and alternative exons. We showed that most expression changes occur in infancy, and that the number of differentially expressed genes reduces toward adulthood...
January 19, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28108490/mri-shows-that-exhaustion-syndrome-due-to-chronic-occupational-stress-is-associated-with-partially-reversible-cerebral-changes
#6
I Savic, A Perski, W Osika
The present study investigates the cerebral effects of chronic occupational stress and its possible reversibility. Forty-eight patients with occupational exhaustion syndrome (29 women) and 80 controls (47 women) underwent structural magnetic resonance imaging (MRI) and neuropsychological testing. Forty-four participants (25 patients, 19 controls) also completed a second MRI scan after 1-2 years. Only patients received cognitive therapy. The stressed group at intake had reduced thickness in the right prefrontal cortex (PFC) and left superior temporal gyrus (STG), enlarged amygdala volumes, and reduced caudate volumes...
January 19, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28108394/unsmoothed-functional-mri-of-the-human-amygdala-and-bed-nucleus-of-the-stria-terminalis-during-processing-of-emotional-faces
#7
Ronald Sladky, Nicole Geissberger, Daniela M Pfabigan, Christoph Kraus, Martin Tik, Michael Woletz, Katharina Paul, Thomas Vanicek, Bastian Auer, Georg S Kranz, Claus Lamm, Rupert Lanzenberger, Christian Windischberger
Functional neuroimaging of the human amygdala has been of great interest to uncover the neural underpinnings of emotions, mood, motivation, social cognition, and decision making, as well as their dysfunction in psychiatric disorders. Yet, several factors limit in vivo imaging of amygdalar function, most importantly its location deep within the temporal lobe adjacent to air-filled cavities that cause magnetic field inhomogeneities entailing signal dropouts. Additionally, the amygdala and the extended amygdalar region consist of several substructures, which have been assigned different functions and have important implications for functional and effective connectivity studies...
January 17, 2017: NeuroImage
https://www.readbyqxmd.com/read/28107760/intraneural-ganglion-cyst-of-the-ulnar-nerve-in-an-unusual-location-a-case-report
#8
Ufuk Öztürk, Ahmet Salduz, Mehmet Demirel, Tuna Pehlivanoğlu, Sevan Sivacioğlu
INTRODUCTION: Intraneural ganglion cysts are benign, mucinous, non-neoplastic lesions of the peripheral nerves. While the most common location of intraneural ganglion cysts is the ulnar nerve and its branches, intraneural ganglion cyst involving the superficial branch of the ulnar nerve has not yet been reported. PRESENTATION OF CASE: A-25-year-old woman presented with pain and a palpable mass in the hypothenar region of the volar side of her right hand. Her neuromuscular examination was normal...
January 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28107446/amygdala-atrophy-and-its-functional-disconnection-with-the-cortico-striatal-pallidal-thalamic-circuit-in-major-depressive-disorder-in-females
#9
Jie Yang, Yingying Yin, Connie Svob, Jun Long, Xiaofu He, Yuqun Zhang, Zhi Xu, Lei Li, Jie Liu, Jian Dong, Zuping Zhang, Zhishun Wang, Yonggui Yuan
BACKGROUND: Major depressive disorder (MDD) is approximately twice as common in females than males. Furthermore, female patients with MDD tend to manifest comorbid anxiety. Few studies have explored the potential anatomical and functional brain changes associated with MDD in females. Therefore, the purpose of the present study was to investigate the anatomical and functional changes underlying MDD in females, especially within the context of comorbid anxiety. METHODS: In this study, we recruited antidepressant-free females with MDD (N = 35) and healthy female controls (HC; N = 23)...
2017: PloS One
https://www.readbyqxmd.com/read/28107350/maternal-and-newborn-health-in-karnataka-state-india-the-community-level-interventions-for-pre-eclampsia-clip-trial-s-baseline-study-results
#10
Mrutynjaya B Bellad, Marianne Vidler, Narayan V Honnungar, Ashalata Mallapur, Umesh Ramadurg, Umesh Charanthimath, Geetanjali Katageri, Shashidhar Bannale, Avinash Kavi, Chandrashekhar Karadiguddi, Sumedha Sharma, Tang Lee, Jing Li, Beth Payne, Laura Magee, Peter von Dadelszen, Richard Derman, Shivaprasad S Goudar
Existing vital health statistics registries in India have been unable to provide reliable estimates of maternal and newborn mortality and morbidity, and region-specific health estimates are essential to the planning and monitoring of health interventions. This study was designed to assess baseline rates as the precursor to a community-based cluster randomized control trial (cRCT)-Community Level Interventions for Pre-eclampsia (CLIP) Trial (NCT01911494; CTRI/2014/01/004352). The objective was to describe baseline demographics and health outcomes prior to initiation of the CLIP trial and to improve knowledge of population-level health, in particular of maternal and neonatal outcomes related to hypertensive disorders of pregnancy, in northern districts the state of Karnataka, India...
2017: PloS One
https://www.readbyqxmd.com/read/28107037/health-service-utilisation-detection-rates-by-family-practitioners-and-management-of-patients-with-common-mental-disorders-in-french-family-practice
#11
Joanna Norton, Agnès Oude Engberink, Catherine Gandubert, Karen Ritchie, Anthony Mann, Michel David, Delphine Capdevielle
OBJECTIVE: Provide up-to-date detection rates for common mental disorders (CMD) and examine patient service-use since the Preferred Doctor scheme was introduced to France in 2005, with patients encouraged to register with and consult a family practitioner (FP) of their choice. METHODS: Study of 1133 consecutive patients consulting 38 FPs in the Montpellier region, replicating a study performed before the scheme. Patients in the waiting room completed the self-report Patient Health Questionnaire (PHQ) and Client Service-Receipt Inventory with questions on registration with a Preferred Doctor and doctor-shopping...
January 1, 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/28106687/superficial-parotidectomy-plane-for-debulking-surgery-in-kimura-disease
#12
Rohit Sharma
Kimura disease (KD) is a rare chronic inflammatory disorder of unknown etiology representing as solitary or multiple subcutaneous nodules predominantly in the head and neck region. Common sites of involvement are preauricular region, forehead and scalp. The soft tissue localization is often associated with regional lymphadenopathy and enlargement of the major salivary gland. The authors report a patient with KD involving the right parotid and left temporal region managed successfully at our center using a combination of debulking superficial parotidectomy and medicinal therapy...
January 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28106557/blunted-respiratory-responses-in%C3%A2-the%C3%A2-streptozotocin-induced-alzheimer-s-disease-rat-model
#13
Dalton L Ebel, Christopher G Torkilsen, Tim D Ostrowski
Alzheimer's disease (AD) is known for the progressive decline of cognition and memory. In addition to these disease-defining symptoms, impairment of respiratory function is frequently observed and often expressed by sleep-disordered breathing or reduced ability to adjust respiration when oxygen demand is elevated. The mechanisms for this are widely unknown. Postmortem analysis from the brainstem of AD patients reveals pathological alterations, including in nuclei responsible for respiratory control. In this study, we analyzed respiratory responses and morphological changes in brainstem nuclei following intracerebroventricular (ICV) injections of streptozotocin (STZ), a rat model commonly used to mimic sporadic AD...
January 20, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28106445/quantum-mutual-information-as-a-probe-for-many-body-localization
#14
Giuseppe De Tomasi, Soumya Bera, Jens H Bardarson, Frank Pollmann
We demonstrate that the quantum mutual information (QMI) is a useful probe to study many-body localization (MBL). First, we focus on the detection of a metal-insulator transition for two different models, the noninteracting Aubry-André-Harper model and the spinless fermionic disordered Hubbard chain. We find that the QMI in the localized phase decays exponentially with the distance between the regions traced out, allowing us to define a correlation length, which converges to the localization length in the case of one particle...
January 6, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28106136/long-term-exposure-to-835%C3%A2-mhz-rf-emf-induces-hyperactivity-autophagy-and-demyelination-in-the-cortical-neurons-of-mice
#15
Ju Hwan Kim, Da-Hyeon Yu, Yang Hoon Huh, Eun Ho Lee, Hyung-Gun Kim, Hak Rim Kim
Radiofrequency electromagnetic field (RF-EMF) is used globally in conjunction with mobile communications. There are public concerns of the perceived deleterious biological consequences of RF-EMF exposure. This study assessed neuronal effects of RF-EMF on the cerebral cortex of the mouse brain as a proxy for cranial exposure during mobile phone use. C57BL/6 mice were exposed to 835 MHz RF-EMF at a specific absorption rate (SAR) of 4.0 W/kg for 5 hours/day during 12 weeks. The aim was to examine activation of autophagy pathway in the cerebral cortex, a brain region that is located relatively externally...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28106101/the-systematic-analysis-of-coding-and-long-non-coding-rnas-in-the-sub-chronic-and-chronic-stages-of-spinal-cord-injury
#16
Raquel Cuevas-Diaz Duran, Han Yan, Yiyan Zheng, Xingfan Huang, Raymond Grill, Dong H Kim, Qilin Cao, Jia Qian Wu
Spinal cord injury (SCI) remains one of the most debilitating neurological disorders and the majority of SCI patients are in the chronic phase. Previous studies of SCI have usually focused on few genes and pathways at a time. In particular, the biological roles of long non-coding RNAs (lncRNAs) have never been characterized in SCI. Our study is the first to comprehensively investigate alterations in the expression of both coding and long non-coding genes in the sub-chronic and chronic stages of SCI using RNA-Sequencing...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28105569/the-spectrum-of-niemann-pick-type-c-disease-in-greece
#17
Irene Mavridou, Evangelia Dimitriou, Marie T Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara, Lilia Lycopoulou, Sevasti Bostantjopoulou, Dimitrios Zafeiriou, Helen Michelakakis
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the NPC1 and the NPC2 genes. We present the clinical, biochemical, and molecular findings in 14 cases diagnosed in Greece during the last 28 years...
January 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28105082/genetic-diagnosis-and-treatment-of-a-chinese-ketosis-prone-mody-3-family-with-depression
#18
Jun Tang, Chen-Yi Tang, Fang Wang, Yue Guo, Hao-Neng Tang, Ci-La Zhou, Shu-Wen Tan, Shi-Ping Liu, Zhi-Guang Zhou, Hou-De Zhou
BACKGROUND: To analyze the gene mutation and mental disorder of a Chinese ketosis-prone diabetes (KPD) family, and to make a precise diagnosis and give a treatment for them. METHODS: We studied a Chinese family with a clinical diagnosis of maturity-onset diabetes of the young (MODY). The clinical data and the blood samples were collected. The promotor and coding regions inclusive intron exon boundaries of the HNF1A, HNF4A were detected by polymerase chain reaction (PCR) and direct sequencing...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28104628/mobidb-lite-fast-and-highly-specific-consensus-prediction-of-intrinsic-disorder-in-proteins
#19
Marco Necci, Damiano Piovesan, Zsuzsanna Dosztányi, Silvio C E Tosatto
MOTIVATION: Intrinsic disorder (ID) is established as an important feature of protein sequences. Its use in proteome annotation is however hampered by the availability of many methods with similar performance at the single residue level, which have mostly not been optimized to predict long ID regions of size comparable to domains. Here, we have focused on providing a single consensus-based prediction, MobiDB-lite, optimized for highly specific (i.e. few false positive) predictions of long disorder...
January 18, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28104554/abnormalities-in-metabolite-concentrations-in-tourette-s-disorder-and-obsessive-compulsive-disorder-a-proton-magnetic-resonance-spectroscopy-study
#20
Siyan Fan, Danielle C Cath, Odile A van den Heuvel, Ysbrand D van der Werf, Caroline Schöls, Dick J Veltman, Petra J W Pouwels
INTRODUCTION: Abnormal glutamatergic transmission in cortico-striato-thalamo-cortical (CSTC) circuits is thought to be involved in the pathophysiology of Tourette's disorder (TD) and obsessive-compulsive disorder (OCD). Using proton magnetic resonance spectroscopy, the current study aimed to investigate regional concentrations of glutamatergic compounds in TD and OCD patients in comparison to healthy control subjects (HC). MATERIAL AND METHODS: Twenty-three TD patients, 20 OCD patients and 22 HC were included...
January 4, 2017: Psychoneuroendocrinology
keyword
keyword
82237
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"