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https://www.readbyqxmd.com/read/29145497/rare-genetic-variants-in-the-endocannabinoid-system-genes-cnr1-and-dagla-are-associated-with-neurological-phenotypes-in-humans
#1
Douglas R Smith, Christine M Stanley, Theodore Foss, Richard G Boles, Kevin McKernan
Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants...
2017: PloS One
https://www.readbyqxmd.com/read/29145200/the-role-of-copy-number-variants-in-disorders-of-sex-development
#2
Brittany Croft, Thomas Ohnesorg, Andrew H Sinclair
Despite considerable research effort and significant advances in sequencing technologies, the majority of disorders of sex development (DSD) cases still lack a molecular genetic diagnosis. While coding variants have been discovered in known and candidate DSD genes, comparatively little is known about copy number variations (CNVs) affecting both coding and noncoding regions. Due to rapidly falling costs of whole genome sequencing, many more CNVs in individuals with DSD will be identified. These CNVs may explain a significant number of hitherto undiagnosed cases of DSD...
November 17, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29145188/brueghel-syndrome-or-meige-syndrome-two-sides-of-a-same-disease
#3
M Béreau, L Tatu
Different eponyms such as "Wood syndrome," Meige syndrome, "Brueghel syndrome," "Blepharospasm plus syndrome" have been used to describe segmental craniocervical dystonias. These facial and/or oromandibular movement disorders are characterized by muscle contractions and spasms involving eyes, facial region, and sometimes pharynx, jaw, floor of the mouth, and tongue. The pathophysiology of craniocervical dystonia is poorly understood, but abnormal plasticity and impaired inhibition are suspected. Injection of botulinum toxin appears to be the best therapeutic option for treating segmental craniocervical dystonia...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145185/hypersexuality-in-neurological-disorders-from-disinhibition-to-impulsivity
#4
M Béreau
Little is known about the neurological control of human sexual behavior. Investigating and measuring this behavior by using quantitative and objective methods is difficult. Insights from lesion studies contribute to analyze the effects of neurological disorders on human sexual behavior. In this chapter, we focus on frontal lobe lesions, brain injuries, epilepsia, dementia, and Parkinson disease to describe human sexual behavior disorders, in order to highlight cortical and subcortical brain regions and neural networks involved in human sexual behavior...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29145168/frontal-infraslow-activity-marks-the-motor-spasms-of-anti-lgi1-encephalitis
#5
Richard Wennberg, Claude Steriade, Robert Chen, Danielle Andrade
OBJECTIVE: The clinical and electrographic features of seizures in anti-LGI1 encephalitis are distinct from those seen in other autoimmune encephalitides or non-encephalitic epilepsies. One electroclinical phenomenon specific to the condition consists of lateralized motor spasms, known as faciobrachial dystonic seizures (FBDS). An electrodecremental pattern overriding a "DC shift" has been described as the EEG correlate of these spasms. We sought to further characterize this pre-spasm infraslow activity (ISA)...
October 28, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29145147/up-regulation-of-mir-299-suppressed-the-invasion-and-migration-of-htr-8-svneo-trophoblast-cells-partly-via-targeting-hdac2-in-pre-eclampsia
#6
Yu Gao, Ruilian She, Qian Wang, Yan Li, Haiying Zhang
Pre-eclampsia (PE), a pregnancy-associated disorder, is a major contributor to maternal mortality and morbidity worldwide. Recently, microRNAs (miRNAs) were found to be associated with the pathogenesis of PE. The present study investigated the function of miR-299 in HTR-8/SVneo trophoblast cells and explored its underlying mechanism in the pathogenesis of PE. The miR-299 and histone deacetylase 2 (HDAC2) mRNA expression levels were determined by quantitative real-time PCR. Transwell invasion and wound healing assays were used to measure cell invasive and migratory ability...
November 13, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29144719/real-world-health-plan-claims-analysis-of-differences-in-healthcare-utilization-and-total-cost-in-patients-suffering-from-cluster-headaches-and-those-without-headache-related-conditions
#7
Michael Polson, Todd C Lord, Themmi M Evangelatos, Maria Lopes, Briana L Santaniello
BACKGROUND: According to the World Health Organization, headache disorders are underappreciated by many health systems. These disorders have a substantial impact on quality of life, yet the true correlation between headache conditions and increased total healthcare utilization is not well understood. This study further explores the impact of headache conditions on healthcare utilization. OBJECTIVES: To assess differences in healthcare utilization and total cost in patients suffering from cluster headaches (CH) compared with patients without headache-related conditions...
November 2017: American Journal of Managed Care
https://www.readbyqxmd.com/read/29144446/structure-and-assembly-of-the-ebola-virus-nucleocapsid
#8
William Wan, Larissa Kolesnikova, Mairi Clarke, Alexander Koehler, Takeshi Noda, Stephan Becker, John A G Briggs
Ebola and Marburg viruses are filoviruses: filamentous, enveloped viruses that cause haemorrhagic fever. Filoviruses are within the order Mononegavirales, which also includes rabies virus, measles virus, and respiratory syncytial virus. Mononegaviruses have non-segmented, single-stranded negative-sense RNA genomes that are encapsidated by nucleoprotein and other viral proteins to form a helical nucleocapsid. The nucleocapsid acts as a scaffold for virus assembly and as a template for genome transcription and replication...
November 16, 2017: Nature
https://www.readbyqxmd.com/read/29143911/decreased-interhemispheric-coordination-in-the-posterior-default-mode-network-and-visual-regions-as-trait-alterations-in-first-episode-drug-naive-major-depressive-disorder
#9
Wenbin Guo, Xilong Cui, Feng Liu, Jindong Chen, Guangrong Xie, Renrong Wu, Zhikun Zhang, Huafu Chen, Xiangyang Zhang, Jingping Zhao
Decreased homotopic connectivity has been implicated in the neurophysiology of major depressive disorder (MDD) with inconsistent findings. A combination of clinical and methodological variabilities may account for the inconsistency, and thus limiting the reproducibility of the findings. The present study aims to examine voxel-mirrored homotopic connectivity (VMHC) alterations in two independent samples of patients with first-episode, drug-naive MDD. The samples included 59 patients and 31 controls from Sample 1 and 29 patients and 24 controls from Sample 2...
November 16, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29143870/head-to-head-comparison-of-18-f-av-1451-and-18-f-thk5351-for-tau-imaging-in-alzheimer-s-disease-and-frontotemporal-dementia
#10
Young Kyoung Jang, Chul Hyoung Lyoo, Seongbeom Park, Seung Jun Oh, Hanna Cho, Minyoung Oh, Young Hoon Ryu, Jae Yong Choi, Gil D Rabinovici, Hee Jin Kim, Seung Hwan Moon, Hyemin Jang, Jin San Lee, William J Jagust, Duk L Na, Jae Seung Kim, Sang Won Seo
PURPOSE: Tau accumulation is a core pathologic change in various neurodegenerative diseases including Alzheimer's disease and frontotemporal lobar degeneration-tau. Recently, tau positron emission tomography tracers such as [(18)F] AV-1451 and [(18)F] THK5351 have been developed to detect tau deposition in vivo. In the present study, we performed a head to head comparison of these two tracers in Alzheimer's disease and frontotemporal dementia cases and aimed to investigate which tracers are better suited to image tau in these disorders...
November 16, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29143731/the-treatment-of-depression-in-primary-care
#11
Sebastian Trautmann, Katja Beesdo-Baum
BACKGROUND: General practitioners play a key role in the care of patients with depressive disorders. We studied the frequency and type of treatment of depressive disorders in primary care. METHODS: In a cross-sectional epidemiological study on a particular day in six different regions in Germany, 253 physicians and 3563 unselected patients were asked to fill in a questionnaire assessing the diagnosis and treatment of depression. A total of 3431 usable patient data sets and 3211 sets of usable data from both the patient and the physician were subjected to further analysis...
October 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/29143541/the-efficacy-of-cognitive-behavioral-therapy-for-chinese-people-a-meta-analysis
#12
Ting Kin Ng, Daniel Fu Keung Wong
OBJECTIVE: Over the past decade, cognitive behavioral therapy has been applied to an increasingly wider range of disorders and problems in Chinese societies. However, no meta-analysis has been conducted to synthesize the studies on cognitive behavioral therapy for Chinese clients. The purpose of this meta-analytic study was to examine the overall efficacy of cognitive behavioral therapy for Chinese people. METHOD: A literature search was conducted using electronic databases, including Web of Science, PsycINFO and PubMed...
November 1, 2017: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/29143475/amygdala-sub-regional-functional-connectivity-predicts-anxiety-in-children-with-reading-disorder
#13
Katie Davis, Amy E Margolis, Lauren Thomas, Zhiyong Huo, Rachel Marsh
Pediatric reading disorder (RD) is associated with an increased risk of anxiety symptoms, yet understudied are the neurobiological factors that might underlie anxiety in children with RD. Given the role of the amygdala in anxiety, we assessed resting state functional connectivity of amygdalar subregions in children with RD to identify functional correlates of anxiety and reading impairment. We collected resting state functional MRI data from 22 children with RD and 21 typically developing (TD) children, ages 7 to 13 years...
November 15, 2017: Developmental Science
https://www.readbyqxmd.com/read/29143411/spontaneous-neural-activity-differences-in-posttraumatic-stress-disorder-a-quantitative-resting-state-meta-analysis-and-fmri-validation
#14
Seth G Disner, Craig A Marquardt, Bryon A Mueller, Philip C Burton, Scott R Sponheim
Identifying the pathophysiology of posttraumatic stress disorder (PTSD) is a critical step toward reducing its debilitating impact. Spontaneous neural activity, measured at rest using various neuroimaging techniques (e.g., regional homogeneity [ReHo], amplitude of low frequency fluctuations [ALFF]), can provide insight about baseline neurobiological factors influencing sensory, cognitive, or behavioral processes associated with PTSD. The present study used activation likelihood estimation (ALE) to conduct the largest-to-date quantitative meta-analysis of spontaneous neural activity in PTSD, including 457 PTSD cases, 292 trauma-exposed controls (TECs), and 293 non-traumatized controls (NTCs) across 22 published studies...
November 15, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29143067/characterization-and-fine-mapping-of-qkc7-03-a-major-locus-for-kernel-cracking-in-maize
#15
Mingtao Yang, Lin Chen, Xun Wu, Xing Gao, Chunhui Li, Yanchun Song, Dengfeng Zhang, Yunsu Shi, Yu Li, Yong-Xiang Li, Tianyu Wang
A major locus conferring kernel cracking in maize was characterized and fine mapped to an interval of 416.27 kb. Meanwhile, combining the results of transcriptomic analysis, the candidate gene was inferred. Seed development requires a proper structural and physiological balance between the maternal tissues and the internal structures of the seeds. In maize, kernel cracking is a disorder in this balance that seriously limits quality and yield and is characterized by a cracked pericarp at the kernel top and endosperm everting...
November 15, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29142389/bioactive-constituents-radical-scavenging-and-antibacterial-properties-of-the-leaves-and-stem-essential-oils-from-peperomia-pellucida-l-kunth
#16
Sunday O Okoh, Benson C Iweriebor, Omobola O Okoh, Anthony I Okoh
Background: Peperomia pellucida is an annual herbaceous ethnomedicinal plant used in the treatment of a variety of communicable and noncommunicable diseases in the Amazon region. Objective: The study aimed at profiling the bioactive constituents of the leaves and stem essential oils (LEO and SEO) of P. pellucida, their in vitro antibacterial and radical scavenging properties as probable lead constituents in the management of oxidative stress and infectious diseases...
October 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/29142255/a-nonredundant-role-for-the-trpm6-channel-in-neural-tube-closure
#17
Yuko Komiya, Zhiyong Bai, Na Cai, Liping Lou, Namariq Al-Saadi, Courtney Mezzacappa, Raymond Habas, Loren W Runnels
In humans, germline mutations in Trpm6 cause autosomal dominant hypomagnesemia with secondary hypocalcemia disorder. Loss of Trpm6 in mice also perturbs cellular magnesium homeostasis but additionally results in early embryonic lethality and neural tube closure defects. To define the mechanisms by which TRPM6 influences neural tube closure, we functionally characterized the role of TRPM6 during early embryogenesis in Xenopus laevis. The expression of Xenopus TRPM6 (XTRPM6) is elevated at the onset of gastrulation and is concentrated in the lateral mesoderm and ectoderm at the neurula stage...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142233/crystal-structure-of-the-n-terminal-domain-of-human-cdc73-and-its-implications-for-the-hyperparathyroidism-jaw-tumor-hpt-jt-syndrome
#18
Wei Sun, Xiao-Lin Kuang, Yan-Ping Liu, Li-Fei Tian, Xiao-Xue Yan, Wenqing Xu
CDC73/Parafibromin is a critical component of the Paf1 complex (PAF1C), which is involved in transcriptional elongation and histone modifications. Mutations of the human CDC73/HRPT2 gene are associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant disorder. CDC73/parafibromin was initially recognized as a tumor suppressor by inhibiting cell proliferation via repression of cyclin D1 and c-myc genes. In recent years, it has also shown oncogenic features by activating the canonical Wnt/β-catenin signal pathway...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142228/genome-wide-mapping-of-genetic-determinants-influencing-dna-methylation-and-gene-expression-in-human-hippocampus
#19
Herbert Schulz, Ann-Kathrin Ruppert, Stefan Herms, Christiane Wolf, Nazanin Mirza-Schreiber, Oliver Stegle, Darina Czamara, Andreas J Forstner, Sugirthan Sivalingam, Susanne Schoch, Susanne Moebus, Benno Pütz, Axel Hillmer, Nadine Fricker, Hartmut Vatter, Bertram Müller-Myhsok, Markus M Nöthen, Albert J Becker, Per Hoffmann, Thomas Sander, Sven Cichon
Emerging evidence emphasizes the strong impact of regulatory genomic elements in neurodevelopmental processes and the complex pathways of brain disorders. The present genome-wide quantitative trait loci analyses explore the cis-regulatory effects of single-nucleotide polymorphisms (SNPs) on DNA methylation (meQTL) and gene expression (eQTL) in 110 human hippocampal biopsies. We identify cis-meQTLs at 14,118 CpG methylation sites and cis-eQTLs for 302 3'-mRNA transcripts of 288 genes. Hippocampal cis-meQTL-CpGs are enriched in flanking regions of active promoters, CpG island shores, binding sites of the transcription factor CTCF and brain eQTLs...
November 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/29142152/indirect-proton-mr-imaging-and-kinetic-analysis-of-17-o-labeled-water-tracer-in-the-brain
#20
Kohsuke Kudo, Taisuke Harada, Hiroyuki Kameda, Ikuko Uwano, Fumio Yamashita, Satomi Higuchi, Kunihiro Yoshioka, Makoto Sasaki
PURPOSE: The feasibility of steady-state sequences for (17)O imaging was evaluated based on a kinetic analysis of the brain parenchyma and cerebrospinal fluid (CSF). MATERIALS AND METHODS: The institutional review board approved this prospective study with written informed consent. Dynamic 2D or 3D steady-state sequences were performed in five and nine participants, respectively, with different parameters using a 3T scanner. During two consecutive dynamic scans, saline was intravenously administered for control purposes in the first scan, and 20% (17)O-labeled water (1 mL/Kg) was administered in the second scan...
November 16, 2017: Magnetic Resonance in Medical Sciences: MRMS
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