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https://www.readbyqxmd.com/read/28288225/-clinical-and-genetic-study-patients-with-tuberous-sclerosis-complex
#1
Carla Rubilar, Francisca López, Mónica Troncoso, Andrés Barrios, Luisa Herrera
Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. OBJECTIVE: To characterize clinically and genetically patients diagnosed with TSC. PATIENTS AND METHOD: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1 gene and exons 33, 36 and 37 of TSC2 gene were amplified by polymerase chain reaction and sequenced...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28277568/neurodevelopmental-perspectives-on-wnt-signaling-in-psychiatry
#2
REVIEW
Kimberly A Mulligan, Benjamin N R Cheyette
Mounting evidence indicates that Wnt signaling is relevant to pathophysiology of diverse mental illnesses including schizophrenia, bipolar disorder, and autism spectrum disorder. In the 35 years since Wnt ligands were first described, animal studies have richly explored how downstream Wnt signaling pathways affect an array of neurodevelopmental processes and how their disruption can lead to both neurological and behavioral phenotypes. Recently, human induced pluripotent stem cell (hiPSC) models have begun to contribute to this literature while pushing it in increasingly translational directions...
February 2017: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/28276657/investigation-of-correlations-between-dna-methylation-suicidal-behavior-and-aging
#3
Richie Jeremian, Yi-An Chen, Vincenzo De Luca, John B Vincent, James L Kennedy, Clement C Zai, John Strauss
OBJECTIVES: Suicidal behavior (SB) is a major cause of mortality for patients diagnosed with bipolar disorder (BD). In this study, we investigated epigenetic differences in BD participants with and without a history of SB. METHODS: We used suicidality scores constructed from Schedule for Clinical Assessments in Neuropsychiatry (SCAN) interview questions about suicidal thought and behavior to identify individuals from a BD cohort of n=452; participants with the most extreme high (H-SB, n=18) and most extreme low (L-SB, n=22) scores were used as cases and controls, respectively...
March 9, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28271905/a-comprehensive-overview-of-the-neuropsychiatry-of-parkinson-s-disease-a-review
#4
Muhammad Adnan Khan, Syed A Quadri, Hassaan Tohid
Parkinson's disease is a widespread neurological illness. However, its psychiatric links have also been discussed lately by many authors, which has brought more depth to the specialized field of neuropsychiatry. Neuropsychiatric complications are commonly seen in Parkinson's patients, including major depression, anxiety, psychosis and hallucination, and cognitive abnormality. Almost all of these complications have a distinct pathophysiology and treatment. In this article we review the most recent studies about the association of these symptoms with Parkinson's disease and highlight the epidemiology, diagnosis, pathophysiology, and treatment of the neuropsychiatric complications, with more emphasis on the pathophysiology of these complications...
2017: Bulletin of the Menninger Clinic
https://www.readbyqxmd.com/read/28269579/development-of-semi-chronic-microdrive-system-for-large-scale-circuit-mapping-in-macaque-mesolimbic-and-basal-ganglia-systems
#5
Shaoyu Qiao, Kevin A Brown, Amy L Orsborn, Breonna Ferrentino, Bijan Pesaran
The development of novel neurotechnologies for treating refractory neuropsychiatry disorders depends on understanding and manipulating the dynamics of neural circuits across large-scale brain networks. The mesolimbic pathway plays an essential role in reward processing and mood regulation and disorders of this pathway underlie many neuropsychiatric disorders. Here, we present the design of a customized semi-chronic microdrive array that precisely targets the anatomical structures of non-human primate (NHP) mesolimbic and basal ganglia systems...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28261116/red-flags-clinical-signs-for-identifying-autoimmune-encephalitis-in-psychiatric-patients
#6
Julia Herken, Harald Prüss
Autoimmune mechanisms causing diverse psychiatric symptoms are increasingly recognized and brought about a paradigm shift in neuropsychiatry. Identification of underlying antibodies against neuronal ion channels or receptors led to the speculation that a number of patients go misdiagnosed with a primary psychiatric disease. However, there is no clear consensus which clinical signs in psychiatric patients should prompt further investigations including measurement of anti-neuronal autoantibodies. We therefore aimed to analyze the presenting symptoms in patients with autoimmune encephalitis and the time between symptom onset and initiation of antibody diagnostics...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28260347/adhd-and-enuresis-a-study-about-effectiveness-of-treatment-with-methylphenidate-or-desmopressin-in-a-pediatric-population
#7
Pietro Ferrara, Valeria Sannicandro, Francesca Ianniello, Enrica Quattrocchi, Annamaria Sbordone, Tommasangelo Petitti, Paolo Mariotti
BACKGROUND: To evaluate the effectiveness of treatment with methylphenidate or desmopressin (dDAVP) in patients with comorbid ADHD and enuresis. METHODS: We enrolled 103 patients affected by ADHD and 125 patients with monosymptomatic nocturnal enuresis (NE). Data were collected between January 2014 and December 2015. The study was carried out in compliance with the Helsinki Declaration. RESULTS: About children with ADHD, 9/103 (8,7%) were also suffering from NE; of those 8/9 followed treatment with methylphenidate and cognitive behavioral therapy...
March 3, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28238028/prepotent-response-inhibition-and-reaction-times-in-children-with-attention-deficit-hyperactivity-disorder-from-a-caribbean-community
#8
Giomar Jiménez-Figueroa, Carlos Ardila-Duarte, David A Pineda, Johan E Acosta-López, Martha L Cervantes-Henríquez, Wilmar Pineda-Alhucema, Jeimys Cervantes-Gutiérrez, Marisol Quintero-Ibarra, Manuel Sánchez-Rojas, Jorge I Vélez, Pedro J Puentes-Rozo
Impairment in inhibitory control has been postulated as an underlying hallmark of attention deficit/hyperactivity disorder (ADHD), which can be utilized as a quantitative trait for genetic studies. Here, we evaluate whether inhibitory control, measured by simple automatized prepotent response (PR) inhibition variables, is a robust discriminant function for the diagnosis of ADHD in children and can be used as an endophenotype for future genetic studies. One hundred fifty-two school children (30.9% female, 67...
February 25, 2017: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/28227834/development-of-semi-chronic-microdrive-system-for-large-scale-circuit-mapping-in-macaque-mesolimbic-and-basal-ganglia-systems
#9
Shaoyu Qiao, Kevin A Brown, Amy L Orsborn, Breonna Ferrentino, Bijan Pesaran, Shaoyu Qiao, Kevin A Brown, Amy L Orsborn, Breonna Ferrentino, Bijan Pesaran, Shaoyu Qiao, Amy L Orsborn, Breonna Ferrentino, Kevin A Brown, Bijan Pesaran
The development of novel neurotechnologies for treating refractory neuropsychiatry disorders depends on understanding and manipulating the dynamics of neural circuits across large-scale brain networks. The mesolimbic pathway plays an essential role in reward processing and mood regulation and disorders of this pathway underlie many neuropsychiatric disorders. Here, we present the design of a customized semi-chronic microdrive array that precisely targets the anatomical structures of non-human primate (NHP) mesolimbic and basal ganglia systems...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28198454/preliminary-evidence-for-a-role-of-the-adrenergic-nervous-system-in-generalized-anxiety-disorder
#10
Xiaobin Zhang, Joanna Norton, Isabelle Carrière, Karen Ritchie, Isabelle Chaudieu, Joanne Ryan, Marie-Laure Ancelin
Generalized anxiety disorder (GAD) is a common chronic condition that is understudied compared to other psychiatric disorders. An altered adrenergic function has been reported in GAD, however direct evidence for genetic susceptibility is missing. This study evaluated the associations of gene variants in adrenergic receptors (ADRs) with GAD, with the involvement of stressful events. Data were obtained from 844 French community-dwelling elderly aged 65 or over. Anxiety disorders were assessed using the Mini-International Neuropsychiatry Interview, according to DSM-IV criteria...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28197005/p300-and-neuropsychological-measurements-in-patients-with-schizophrenia-and-their-healthy-biological-siblings
#11
D Vijaya Raghavan, Arumugam Shanmugiah, P Bharathi, Ramasamy Jeyaprakash
BACKGROUND: Patients with schizophrenia and their first-degree relatives' exhibit abnormalities in neuropsychological and electrophysiological measures especially P300. The aim was to study the P300 and neuropsychological measures together in patients with schizophrenia, their unaffected siblings, and normal controls. MATERIALS AND METHODS: Thirty patients diagnosed as schizophrenia, their unaffected biological siblings, and normal controls were included in the study...
October 2016: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/28183277/language-background-in-early-life-may-be-related-to-neuropsychiatry-symptoms-in-patients-with-alzheimer-disease
#12
Yi-Chien Liu, Jung-Lung Hsu, Shuu-Jin Wang, Ping-Keung Yip, Kenichi Meguro, Jong-Ling Fuh
BACKGROUND: The relationship between early life experience and the occurrence of neuropsychiatry symptoms (NPSs) in patients with Alzheimer disease (AD) is unclear. METHODS: From 2012 to 2014, we prospectively recruited 250 patients with probable AD from the memory clinic of Taipei Veterans General Hospital. All patients underwent standard assessments, including brain magnetic resonance imaging or computed tomography, neuropsychological tests, neuropsychiatry inventory (NPI-Q) and related blood tests...
February 10, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/28179810/sex-biased-cellular-signaling-molecular-basis-for-sex-differences-in-neuropsychiatric-diseases
#13
Rita J Valentino, Debra A Bangasser
The recognition that there are fundamental biological sex differences that extend beyond those that define sexual behavior and reproductive function has inspired the drive toward inclusion of both sexes in research design. This is supported by an underlying clinical rationale that studying both sexes is necessary to elucidate pathophysiology and develop treatments for the entire population. However, at a more basic level, sex differences, like genetic differences, can be exploited to better understand biology...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28127577/parkinsonian-motor-impairment-predicts-personality-domains-related-to-genetic-risk-and-treatment-outcomes-in-schizophrenia
#14
Juan L Molina, María Calvó, Eduardo Padilla, Mara Balda, Gabriela González Alemán, Néstor V Florenzano, Gonzalo Guerrero, Danielle Kamis, Beatriz Molina Rangeon, Mercedes Bourdieu, Sergio A Strejilevich, Horacio A Conesa, Javier I Escobar, Igor Zwir, C Robert Cloninger, Gabriel A de Erausquin
Identifying endophenotypes of schizophrenia is of critical importance and has profound implications on clinical practice. Here we propose an innovative approach to clarify the mechanims through which temperament and character deviance relates to risk for schizophrenia and predict long-term treatment outcomes. We recruited 61 antipsychotic naïve subjects with chronic schizophrenia, 99 unaffected relatives, and 68 healthy controls from rural communities in the Central Andes. Diagnosis was ascertained with the Schedules of Clinical Assessment in Neuropsychiatry; parkinsonian motor impairment was measured with the Unified Parkinson's Disease Rating Scale; mesencephalic parenchyma was evaluated with transcranial ultrasound; and personality traits were assessed using the Temperament and Character Inventory...
2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28127153/a-1911-postcard-of-the-national-hospital-for-the-paralysed-and-epileptic-highlighting-european-medical-specialty-training
#15
Adeel Zubair, Christopher J Boes
The purpose of this study was to describe the historical importance of a 1911 European hospital postcard sent from one American physician to another. In the late 19th and early 20th centuries, very few formal residency programs existed in America for training physicians. Most authors rightfully emphasize Johns Hopkins Hospital, founded in 1889, as the site of origin of the American medical residency, but these positions were for a chosen few. Many young physicians would go abroad to study medicine after completing medical school, a decision with many benefits and few drawbacks...
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28094464/test-retest-reliability-of-functional-connectivity-networks-during-naturalistic-fmri-paradigms
#16
Jiahui Wang, Yudan Ren, Xintao Hu, Vinh Thai Nguyen, Lei Guo, Junwei Han, Christine Cong Guo
Functional connectivity analysis has become a powerful tool for probing the human brain function and its breakdown in neuropsychiatry disorders. So far, most studies adopted resting-state paradigm to examine functional connectivity networks in the brain, thanks to its low demand and high tolerance that are essential for clinical studies. However, the test-retest reliability of resting-state connectivity measures is moderate, potentially due to its low behavioral constraint. On the other hand, naturalistic neuroimaging paradigms, an emerging approach for cognitive neuroscience with high ecological validity, could potentially improve the reliability of functional connectivity measures...
January 17, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28091572/a-computational-psychiatry-approach-identifies-how-alpha-2a-noradrenergic-agonist-guanfacine-affects-feature-based-reinforcement-learning-in-the-macaque
#17
S A Hassani, M Oemisch, M Balcarras, S Westendorff, S Ardid, M A van der Meer, P Tiesinga, T Womelsdorf
Noradrenaline is believed to support cognitive flexibility through the alpha 2A noradrenergic receptor (a2A-NAR) acting in prefrontal cortex. Enhanced flexibility has been inferred from improved working memory with the a2A-NA agonist Guanfacine. But it has been unclear whether Guanfacine improves specific attention and learning mechanisms beyond working memory, and whether the drug effects can be formalized computationally to allow single subject predictions. We tested and confirmed these suggestions in a case study with a healthy nonhuman primate performing a feature-based reversal learning task evaluating performance using Bayesian and Reinforcement learning models...
January 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28079675/recent-advances-in-the-management-of-neuropsychiatric-symptoms-in-dementia
#18
Orestes V Forlenza, Júlia Cunha Loureiro, Marcos Vasconcelos Pais, Florindo Stella
PURPOSE OF REVIEW: The present article addresses intriguing questions related to the clinical intervention in distinct neuropsychiatric syndromes of patients with dementia. RECENT FINDINGS: We reviewed 154 articles published between 2015 and 2016 targeting psychopharmacological and nonpharmacological interventions, and safety-tolerability concerns. We selected 115 articles addressing the purpose of this study. Of these, 33 were chosen because they were dedicated to subtopics: agitation (42), depression (33), apathy (18), sleep disorders/anxiety (8), and psychosis (4)...
March 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28076640/frontal-lobe-alterations-in-schizophrenia-a-review
#19
REVIEW
Ateeq Mubarik, Hassaan Tohid
Objective: To highlight the changes in the frontal lobe of the human brain in people with schizophrenia. Methods: This was a qualitative review of the literature. Results: Many schizophrenic patients exhibit functional, structural, and metabolic abnormalities in the frontal lobe. Some patients have few or no alterations, while some have more functional and structural changes than others. Magnetic resonance imaging (MRI) shows structural and functional changes in volume, gray matter, white matter, and functional activity in the frontal lobe, but the mechanisms underlying these changes are not yet fully understood...
October 2016: Trends in Psychiatry and Psychotherapy
https://www.readbyqxmd.com/read/28067728/advances-in-developmental-neuropsychiatry-autism-spectrum-disorder-cornelia-de-lange-syndrome-self-injurious-behavior-down-syndrome-fetal-alcohol-spectrum-disorder-and-borderline-intellectual-functioning
#20
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