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https://www.readbyqxmd.com/read/28432720/androgen-receptor-dysfunction-as-a-prevalent-manifestation-in-young-male-carriers-of-a-flna-gene-mutation
#1
Laura Carrera-García, Maximiliano Francisco Rivas-Crespo, María Soledad Fernández García
Androgenic actions require the proper signal transmission by the androgen receptor (AR), a nuclear transcription factor. This is initially located in the cell cytoplasm and should translocates to the nucleus to interact with DNA. AR functional impairment causes diverse blockage degrees of androgenic steroid action, known as androgen insensitivity syndromes. Filamin A, a protein coded by the FLNA gene, is a co-activator of various cytoplasmic factors, including AR. The mutational inactivation of the FLNA gene induces insufficiency of translocation and activation of AR...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28429067/neuronal-oscillations-and-synchronicity-associated-with-gamma-hydroxybutyrate-during-resting-state-in-healthy-male-volunteers
#2
Robin von Rotz, Michael Kometer, Dario Dornbierer, Jürg Gertsch, M Salomé Gachet, Franz X Vollenweider, Erich Seifritz, Oliver G Bosch, Boris B Quednow
RATIONALE: Gamma-hydroxybutyrate (GHB) is a putative neurotransmitter, a drug of abuse, an anesthetic agent, and a treatment for neuropsychiatric disorders. In previous electroencephalography (EEG) studies, GHB was shown to induce an electrophysiological pattern of "paradoxical EEG-behavioral dissociation" characterized by increased delta and theta oscillations usually associated with sleep during awake states. However, no detailed source localization of these alterations and no connectivity analyses have been performed yet...
April 20, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28427022/stereotypy-of-psychogenic-nonepileptic-seizures
#3
Moshe Herskovitz
Psychogenic nonepileptic seizures (PNES) are defined as paroxysmal episodes in which epileptic semiology features are manifested, without the characteristic concomitant electrical discharges seen in epileptic seizures. Although many studies have dealt with semiologic classification of PNES, most of the studies did not raise the question of consistency of PNES in the same patient. The aim of this study was to measure the degree of consistency of PNES among individual patients. We retrospectively reviewed medical records and video- EEG records of all adult patients who underwent monitoring in our center from August 1st 2013 to May 31st 2015...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28426349/rna-binging-protein-rbm14-regulates-dissociation-and-association-of-non-homologous-end-joining-proteins
#4
Nicholas Simon, Ming Yuan, Mihoko Kai
Defects in DNA damage response (DDR) are associated with multiple diseases, including cancers and neurodegenerative disorders. Emerging evidence indicates involvement of RNA-binding proteins (RBPs) in DDR. However, functions of the RBPs in DDR pathways remain elusive. We have shown previously that the RNA-binding protein RBM14 is required for non-homologous end joining (NHEJ). Here we show that RBM14 is required for efficient recruitment of XRCC4 and XLF to chromatin and release of KU proteins from chromatin upon DNA damage...
April 20, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28425697/conserved-helix-flanking-prolines-modulate-idp-target-affinity-by-altering-the-lifetime-of-the-bound-complex
#5
Michael David Crabtree, Wade Borcherds, Anusha Poosapati, Sarah L Shammas, Gary W Daughdrill, Jane Clarke
Appropriate integration of cellular signals requires a delicate balance of ligand-target binding affinities. Increasing residual structure in intrinsically disordered proteins (IDPs), which are overrepresented in these cellular processes, has been shown previously to enhance binding affinities and alter cellular function. Conserved proline residues are commonly found flanking regions of IDPs that become helical upon interacting with a partner protein. Here, we mutate these helix-flanking prolines in p53 and MLL, and find opposite effects on binding affinity upon increasing free IDP helicity...
April 20, 2017: Biochemistry
https://www.readbyqxmd.com/read/28424054/an-unusual-delusion-of-duplication-in-a-patient-affected-by-dementia-with-lewy-bodies
#6
Paolo Solla, Gioia Mura, Antonino Cannas, Gianluca Floris, Davide Fonti, Gianni Orofino, Mauro Giovanni Carta, Francesco Marrosu
BACKGROUND: Dementia with Lewy bodies (DLB) is the second most frequent diagnosis of progressive degenerative dementia in older people. Delusions are common features in DLB and, among them, Capgras syndrome represents the most frequent disturbance, characterized by the recurrent and transient belief that a familiar person, often a close family member or caregiver, has been replaced by an identical-looking imposter. However, other delusional conditions near to misidentification syndromes can occur in DLB patients and may represent a major psychiatric disorder, although rarely studied systematically...
April 19, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28416459/the-error-of-broca-from-the-traditional-localizationist-concept-to-a-connectomal-anatomy-of-human-brain
#7
REVIEW
Hugues Duffau
Neurology, especially aphasiology, was mainly built on behavioral-structural correlations ("lesion method"). In this setting, Broca's area has been considered as the "speech area"; moreover, this observation led to localizationism. However, advances in brain mapping techniques, as functional neuroimaging and direct electrical stimulation in patients undergoing awake surgery for gliomas, has resulted in a paradigmatic shift regarding models of neural architecture. In fact, the brain is organized in distributed complex networks underpinning sensorimotor, visuospatial, language, cognitive and emotional functions...
April 14, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/28413776/dissociable-neural-processes-during-risky-decision-making-in-individuals-with-internet-gaming-disorder
#8
Lu Liu, Gui Xue, Marc N Potenza, Jin-Tao Zhang, Yuan-Wei Yao, Cui-Cui Xia, Jing Lan, Shan-Shan Ma, Xiao-Yi Fang
Risk-taking is purported to be central to addictive behaviors. However, for Internet gaming disorder (IGD), a condition conceptualized as a behavioral addiction, the neural processes underlying impaired decision-making (risk evaluation and outcome processing) related to gains and losses have not been systematically investigated. Forty-one males with IGD and 27 healthy comparison (HC) male participants were recruited, and the cups task was used to identify neural processes associated with gain- and loss-related risk- and outcome-processing in IGD...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28407553/high-frequency-repetitive-transcranial-magnetic-stimulation-treatment-for-major-depression-dissociated-effects-on-psychopathology-and-neurocognition
#9
Santiago Tovar-Perdomo, Alexander McGirr, Frederique Van den Eynde, Nicole Rodrigues Dos Santos, Marcelo T Berlim
OBJECTIVES: This open-label pilot study explored the effects of a course of accelerated high-frequency repetitive transcranial magnetic stimulation (HF-rTMS) on two neurocognitive domains (decision-making and impulse control) in patients with major depressive disorder (MDD). METHODS: Participants with MDD and a treatment resistant major depressive episode (n=24) underwent twice-daily HF-rTMS targeted at the left dorsolateral prefrontal cortex (lDLPFC) over two weeks...
April 6, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28399105/-treatment-of-syringomyelia-associated-with-chiari-1-malformation
#10
A A Zuev, G V Kostenko
Syringomyelia (SM) develops due to the disturbance of cerebrospinal fluid dynamics, spinal fixation or a spinal tumor. The disturbance of cerebrospinal fluid dynamics in the area of the foramen magnum leads to the progression of SM in Chiari 1 malformation (CM1). CM1 is the most prevalent pathology of craniovertebral junction associated with SM. The prevalence of CM1 varies from 3 to 8 per 100 000 population but SM is diagnosed in 65% of patients with CM1. Clinical symptoms of CM1 and SM include pain in the occipital area, gait disturbances due to sensitive ataxia, dissociated sensory disorders, dysphagia, paresis of the extremities...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28398162/control-over-interfering-memories-in-eating-disorders
#11
Davide Francesco Stramaccia, Barbara Penolazzi, Arianna Libardi, Aldo Genovese, Luigi Castelli, Daniela Palomba, Giovanni Galfano
INTRODUCTION: Recent studies have suggested that patients suffering from either anorexia nervosa (AN) or bulimia nervosa (BN) exhibit abnormal performance in the ability to control cognitive interference in response selection. METHOD: We assessed the status of cognitive control in episodic memory by addressing the ability to inhibit interfering memories. To this end, we used the retrieval-practice paradigm, which allows for measuring both the beneficial and the detrimental effects of memory practice...
April 11, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28396318/blocking-allergic-reaction-through-targeting-surface-bound-ige-with-low-affinity-anti-ige-antibodies
#12
Ke Zhang, Jeffrey Liu, Thao Truong, Elyssa Zukin, Wendy Chen, Andrew Saxon
Allergic disorders have now become a major worldwide public health issue, but the effective treatment options remain limited. We report a novel approach to block allergic reactivity by targeting the surface-bound IgE of the allergic effector cells via low-affinity anti-human IgE Abs with dissociation constants in the 10(-6) to 10(-8) M range. We demonstrated that these low-affinity anti-IgE mAbs bind to the cell surface-bound IgE without triggering anaphylactic degranulation even at high concentration, albeit they would weakly upregulate CD203c expression on basophils...
April 10, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28387105/-starving-to-death-the-paradox-of-anorexia-nervosa
#13
REVIEW
S Moukhaiber, C Piette, J-M Triffaux
Anorexia nervosa is a complex pathology that regularly leads clinicians to a therapeutic impasse. The origin of this disorder is multifactorial. It occurs most often in adolescence and affects mainly women. Paradoxically, hunger is present but dissociated from adequate food function. Somatic and psychological impact can be particularly heavy. The treatment is difficult and requires a multidisciplinary care. An eclectic and integrative approach, moving away from rigid therapeutic methods and integrating the plurality of techniques, seems to be particularly recommended to increase the chances of therapeutic success...
November 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28385637/trigger-factor-induced-nascent-chain-dynamics-changes-suggest-two-different-chaperone-nascent-chain-interactions-during-translation
#14
Jiří Koubek, Yi-Che Chang, Sunny Yao-Chen Yang, Joseph Jen-Tse Huang
Protein biogenesis is poorly understood due to the ribosome which perturbs measurement attempted on the ribosome-bound nascent chain (RNC). Investigating nascent chain dynamics may provide invaluable insight into the co-translational processes such as structure formation or interaction with a chaperone, e.g. the bacterial Trigger Factor (TF). In this study, we aim to establish a platform for studying nascent chain dynamics by exploring the local environment near the fluorescent dye on site-specifically labeled RNCs with time-resolved fluorescence anisotropy...
April 3, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28380271/the-mediating-role-of-integration-of-loss-in-the-relationship-between-dissociation-and-prolonged-grief-disorder
#15
Ilanit Hasson-Ohayon, Tuvia Peri, Itai Rotschild, Rivka Tuval-Mashiach
OBJECTIVE: Findings from the field of trauma have shown that there is a negative relationship between dissociation and integration of loss into the self-narrative. At the same time, an increasing amount of literature on grief has stressed the importance of an integrated self-narrative in the grieving process. Accordingly, the current study examined the possible mediating role played by the extent to which individuals have integrated their loss into their self-narrative in the relationship between dissociation and symptoms of prolonged grief disorder (PGD)...
April 5, 2017: Journal of Clinical Psychology
https://www.readbyqxmd.com/read/28376481/use-of-hormone-replacement-in-females-with-endocrine-disorders
#16
Sophie Christin-Maitre
Hormone replacement therapy (HRT) is necessary in adolescents with primary ovarian insufficiency (POI) in order to avoid estrogen deficiency. The goal of this minirewiew is to present the different types of estrogens (17β-estradiol, estradiol valerate, ethinyl estradiol, and combined equine estrogens) as well as the different types of progestins available. In order to choose among the different types of HRTs, the features of each regimen are being discussed as well as their risks and their respective benefits...
April 4, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28370471/motor-deficits-and-beta-oscillations-are-dissociable-in-an-alpha-synuclein-model-of-parkinson-s-disease
#17
Ivani Brys, Jessica Nunes, Romulo Fuentes
Parkinson's disease (PD) is a neurodegenerative disorder characterized by progressive motor symptoms resulting from chronic loss of dopaminergic neurons in the nigrostriatal pathway. The over expression of the protein alpha-synuclein in the substantia nigra has been used to induce progressive dopaminergic neuronal loss and to reproduce key histopathological and temporal features of PD in animal models. However the neurophysiological aspects of the alpha-synuclein PD model have been poorly characterized. Hereby we performed chronic in vivo electrophysiological recordings in the corticostriatal circuit of rats injected with viral vector to over express alpha-synuclein in the right substantia nigra...
March 30, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28368372/ercc1-xpf-cooperates-with-ctcf-and-cohesin-to%C3%A2-facilitate-the-developmental-silencing-of-imprinted%C3%A2-genes
#18
Georgia Chatzinikolaou, Zivkos Apostolou, Tamara Aid-Pavlidis, Anna Ioannidou, Ismene Karakasilioti, Giorgio L Papadopoulos, Michalis Aivaliotis, Maria Tsekrekou, John Strouboulis, Theodore Kosteas, George A Garinis
Inborn defects in DNA repair are associated with complex developmental disorders whose causal mechanisms are poorly understood. Using an in vivo biotinylation tagging approach in mice, we show that the nucleotide excision repair (NER) structure-specific endonuclease ERCC1-XPF complex interacts with the insulator binding protein CTCF, the cohesin subunits SMC1A and SMC3 and with MBD2; the factors co-localize with ATRX at the promoters and control regions (ICRs) of imprinted genes during postnatal hepatic development...
April 3, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28366814/extended-vs-brief-intermittent-access-to-palatable-food-differently-promote-binge-like-intake-rejection-of-less-preferred-food-and-weight-cycling-in-female-rats
#19
A D Kreisler, M G Garcia, S R Spierling, B E Hui, E P Zorrilla
BACKGROUND: Palatable food access promotes obesity leading some to diet. Here, we modeled the roles of duration, intermittency and choice of access in bingeing, escalation of daily intake, and underacceptance of alternatives. METHOD: Female rats with ("Choice") or without continuous chow access, received chow or continuous (Chocolate), intermittent (MWF) long (24h, Int-Long), or intermittent short (30min, Int-Short) access to a sucrose-rich, chocolate-flavored diet (CHOC)...
March 30, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28364495/sexsomnia-a-specialized-non-rem-parasomnia
#20
Anne-Laure Dubessy, Smaranda Leu-Semenescu, Valérie Attali, Jean-Baptiste Maranci, Isabelle Arnulf
Introduction: To describe patients with sexsomnia and to contrast their clinical and sleep measures with those of healthy controls and sleepwalkers. Aims and Methods: Subjects referred for sexsomnia and for sleepwalking/night terror were interviewed, completed the Paris Arousal Disorder Severity Scale (PADSS), and were monitored 1-2 nights with video-polysomnography. Results: Seventeen patients (70.6% male, aged 17-76 years) had sexsomnia, with amnestic fondling of the bed partner (n = 11), complete sexual intercourse (n = 8), masturbation (n = 8), and spontaneous orgasm (n = 1)...
February 1, 2017: Sleep
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