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https://www.readbyqxmd.com/read/28630236/european-evidence-based-recommendations-for-diagnosis-and-treatment-of-childhood-onset-systemic-lupus-erythematosus-the-share-initiative
#1
Noortje Groot, Nienke de Graeff, Tadej Avcin, Brigitte Bader-Meunier, Paul Brogan, Pavla Dolezalova, Brian Feldman, Isabelle Kone-Paut, Pekka Lahdenne, Stephen D Marks, Liza McCann, Seza Ozen, Clarissa Pilkington, Angelo Ravelli, Annet van Royen-Kerkhof, Yosef Uziel, Bas Vastert, Nico Wulffraat, Sylvia Kamphuis, Michael W Beresford
Childhood-onset systemic lupus erythematosus (cSLE) is a rare, multisystem and potentially life-threatening autoimmune disorder with significant associated morbidity. Evidence-based guidelines are sparse and management is often based on clinical expertise. SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) was launched to optimise and disseminate management regimens for children and young adults with rheumatic diseases like cSLE. Here, we provide evidence-based recommendations for diagnosis and treatment of cSLE...
June 19, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28627787/psychiatric-and-cognitive-characteristics-of-individuals-with-danon-disease-lamp2-gene-mutation
#2
Maya Yardeni, Omri Weisman, Hanna Mandel, Ronnie Weinberger, Giovanni Quarta, Joel Salazar-Mendiguchía, Pablo Garcia-Pavia, Maria José Lobato-Rodríguez, Lourdes Fajardo Simon, Freimark Dov, Michael Arad, Doron Gothelf
Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive deficits and psychiatric comorbidities manifested in DD remain an understudied topic. We systematically assessed cognitive abilities and psychiatric comorbidities in 13 males and females...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28619037/ifn-%C3%AE-1-with-th17-axis-cytokines-and-ifn-%C3%AE-define-different-subsets-in-systemic-lupus-erythematosus-sle
#3
Vilija Oke, Susanna Brauner, Anders Larsson, Johanna Gustafsson, Agneta Zickert, Iva Gunnarsson, Elisabet Svenungsson
BACKGROUND: Interferon (IFN)-α is thought to have a pivotal role in systemic lupus erythematosus (SLE), and type III IFNs (IFN-λ) were recently also associated with SLE. In this study, we measured levels of IFN-α, IFN-λ1, and related cytokines, such as IL-17A, IL-23, and interferon-γ-induced protein 10 (IP-10), in a Karolinska University Hospital cohort of patients with SLE and control subjects. The objective of the study was to investigate if cytokine measurements could identify different subsets of patients with active SLE and higher disease damage...
June 15, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28617938/fragile-x-syndrome-an-overview-and-update-of-the-fmr1-gene
#4
REVIEW
Montserrat Mila, Maria Isabel Alvarez-Mora, Irene Madrigal, Laia Rodriguez-Revenga
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and the leading form of the monogenic cause of autism. FMR1 premutation is the first single-gene cause of primary ovarian failure (FXPOI) and one of the most common causes of ataxia (FXTAS), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described. Clinical involvement in men and women carrying the FMR1 premutation currently constitutes a real health problem in the society that should be taken into account...
June 15, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28611376/allopregnanolone-mediates-the-exacerbation-of-tourette-like-responses-by-acute-stress-in-mouse-models
#5
Laura J Mosher, Sean C Godar, Marianela Nelson, Stephen C Fowler, Graziano Pinna, Marco Bortolato
Tourette syndrome (TS) is a neuropsychiatric disorder characterized by multiple tics and sensorimotor abnormalities, the severity of which is typically increased by stress. The neurobiological underpinnings of this exacerbation, however, remain elusive. We recently reported that spatial confinement (SC), a moderate environmental stressor, increases tic-like responses and elicits TS-like sensorimotor gating deficits in the D1CT-7 mouse, one of the best-validated models of TS. Here, we hypothesized that these adverse effects may be mediated by neurosteroids, given their well-documented role in stress-response orchestration...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28607558/hashimoto-s-encephalopathy-presenting-with-unusual-behavioural-disturbances-in-an-adolescent-girl
#6
Murugan Selvaraj Karthik, Kulothungan Nandhini, Viswanath Subashini, Ramasamy Balakrishnan
Hashimoto's encephalopathy (HE) is a rare autoimmune disorder with neurological and neuropsychiatric manifestations and elevated titres of anti-thyroid antibodies. Here we are reporting a case of HE in a 19-year-old girl who presented with seizure-like episodes, confusion, and behavioural disturbances with catatonic symptoms such as posturing, echopraxia, echolalia, and ambivalence. Patient did not respond to antipsychotics and anticonvulsants. On further investigation, patient was found to have high serum anti-TPO antibodies of about 1261 U/mL with euthyroid status, which supported a suspicion of HE...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28602379/efficacy-and-safety-of-rituximab-in-the-management-of-pediatric-systemic-lupus-erythematosus-a-systematic-review
#7
Ines Mahmoud, Manel Jellouli, Imen Boukhris, Rim Charfi, Aicha Ben Tekaya, Olfa Saidane, Maryem Ferjani, Yousra Hammi, Sameh Trabelsi, Narjess Khalfallah, Rawdha Tekaya, Tahar Gargah, Leila Abdelmoula
OBJECTIVES: To evaluate the efficacy and safety of rituximab for treating pediatric systemic lupus erythematosus (pSLE). STUDY DESIGN: We performed a systematic review to evaluate the efficacy and safety of rituximab in children with pSLE. Data from studies performed before July 2016 were collected from MEDLINE, the Cochrane Library, Scopus, and the International Rheumatic Disease Abstracts, with no language restrictions. Study eligibility criteria included clinical trials and observational studies with a minimal sample size of 5 patients, regarding treatment with rituximab in patients with refractory pSLE (aged <18 years at the time of diagnosis)...
June 8, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28594546/neuropeptide-vgf-c-terminal-peptide-tlqp-62-alleviates-lipopolysaccharide-induced-memory-deficits-and-anxiety-like-and-depression-like-behaviors-in-mice-the-role-of-bdnf-trkb-signaling
#8
Chenli Li, Mengmeng Li, Hanjie Yu, Xinbei Shen, Jinting Wang, Xin Sun, Qinwen Wang, Chuang Wang
Peripheral inflammatory responses affect central nervous system (CNS) function, manifesting in symptoms of memory deficits, depression, and anxiety. Previous studies have revealed that neuropeptide VGF (nonacronymic) C-terminal peptide TLQP-62 rapidly reinforces brain-derived neurotrophic factor (BDNF)/tropomyosin receptor kinase B (TrkB) signaling, regulating memory consolidation and antidepressant-like action. However, whether it is beneficial for lipopolysaccharide (LPS)-induced neuropsychiatric dysfunction in mice is unknown...
June 21, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28567321/neuropsychiatric-manifestations-in-a-patient-with-panhypopituitarism
#9
Oluwole Jegede, Ajouka Jeyakumar, Thyarapan Balakumar, Alyssa Raghu, Katherine I Chang, Katarina Soewono, Mario Gustave, Ayodeji Jolayemi
We present a case of an incidental diagnosis of panhypopituitarism in a 68-year-old African American man admitted to our psychiatric inpatient unit with symptoms suggestive of schizophrenia. The case was unusual as a first-episode psychosis given the patient's age. In the course of his admission, the patient's clinical condition deteriorated culminating in a sudden altered mental status which prompted a transfer to the medical floors and further investigations. A head CT scan and a pituitary MRI revealed a near total resection of the pituitary while laboratory investigations revealed hyponatremia and a grossly low hormone profile...
2017: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/28567317/open-label-fosmetpantotenate-a-phosphopantothenate-replacement-therapy-in-a-single-patient-with-atypical-pkan
#10
Yiolanda-Panayiota Christou, George A Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D Marshall, Horacio Plotkin, Kleopas A Kleopa
Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity, and parkinsonism. PKAN is caused by biallelic PANK2 mutations, a gene that encodes pantothenate kinase 2, a regulatory enzyme in coenzyme A biosynthesis. Current therapeutic strategies rely on symptomatic relief...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28554934/validity-of-the-italian-algorithm-for-the-attribution-of-neuropsychiatric-events-in-systemic-lupus-erythematosus-a-retrospective-multicentre-international-diagnostic-cohort-study
#11
Alessandra Bortoluzzi, Antonis Fanouriakis, Simone Appenzeller, Lilian Costallat, Carlo Alberto Scirè, Elana Murphy, George Bertsias, John Hanly, Marcello Govoni
OBJECTIVE: To validate the Italian algorithm of attribution of neuropsychiatric (NP) events to systemic lupus erythematosus (SLE) in an external international cohort of patients with SLE. METHODS: A retrospective cohort diagnostic accuracy design was followed. SLE patients attending three tertiary care lupus clinics, with one or more NP events, were included. The attribution algorithm, applied to the NP manifestations, considers four weighted items for each NP event: (1) time of onset of the event; (2) type of NP event (major vs minor), (3) concurrent non-SLE factors; (4) favouring factors...
May 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28546311/evidence-for-functional-networks-within-the-human-brain-s-white-matter
#12
Michael Peer, Mor Nitzan, Atira S Bick, Netta Levin, Shahar Arzy
Investigation of the functional macro-scale organization of the human cortex is fundamental in modern neuroscience. While numerous studies have identified networks of interacting functional modules in the grey-matter, limited research was directed to the functional organization of the white-matter. Recent studies have demonstrated that the white-matter exhibits blood oxygen level dependent (BOLD) signal fluctuations similar to those of the grey-matter. Here we used these signal fluctuations to investigate whether the white-matter is organized as functional networks by applying a clustering analysis on resting-state functional MRI (RSfMRI) data from white-matter voxels, in 176 subjects (of both sexes)...
May 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28538242/neuropsychiatric-features-of-neurosyphilis-frequency-relationship-with-the-severity-of-cognitive-impairment-and-comparison-with-alzheimer-disease
#13
Xiaomei Zhong, Haishan Shi, Le Hou, Ben Chen, Qi Peng, Xinru Chen, Zhangying Wu, Yanhua Wang, Naikeng Mai, Xingbing Huang, Yuping Ning
BACKGROUND: The pattern of neuropsychiatric features of patients with neurosyphilis and the impact of the severity of cognitive impairment on neuropsychiatric syndromes are unknown. OBJECTIVE: We aim to assess the neuropsychiatric features of patients with neurosyphilis, and compare the impact of the severity of cognitive impairment on the neuropsychiatric syndromes between neurosyphilis and Alzheimer disease (AD). METHODS: Neuropsychiatric symptoms and the degree of cognitive impairment were assessed in a case-control study of 91 neurosyphilis, 162 AD, 157 mild cognitive impairment, and 139 normal controls by the Neuropsychiatric Inventory (NPI) scale and Clinical Dementia Rating scale, respectively...
2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28536974/neonatal-immune-challenge-with-lipopolysaccharide-triggers-long-lasting-sex-and-age-related-behavioral-and-immune-neurotrophic-alterations-in-mice-relevance-to-autism-spectrum-disorders
#14
Charllyany Sabino Custódio, Bruna Stefânia Ferreira Mello, Adriano José Maia Chaves Filho, Camila Nayane de Carvalho Lima, Rafaela Carneiro Cordeiro, Fábio Miyajima, Gislaine Z Réus, Silvânia Maria Mendes Vasconcelos, Tatiana Barichello, João Quevedo, Antônio Carlos de Oliveira, David Freitas de Lucena, Danielle S Macedo
Early-life challenges, particularly infections and stress, are related to neuropsychiatric disorders such as autism and schizophrenia. Here, we conducted a wide range of behavioral tests in periadolescent (postnatal day (PN) 35) and adult (PN70) Swiss mice neonatally challenged with LPS on PN5 and -7, to unveil behavioral alterations triggered by LPS exposure. Immune and neurotrophic (brain-derived neurotrophic factor-BDNF) alterations were determined in the prefrontal cortex (PFC), hippocampus (HC), and hypothalamus (HT)...
May 23, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28532221/antiphospholipid-antibodies-are-associated-with-positive-screening-for-common-mental-disorders-in-women-with-previous-pregnancy-loss-the-noha-psy-observational-study
#15
Jean-Christophe Gris, Fabienne Cyprien, Sylvie Bouvier, Eva Cochery-Nouvellon, Géraldine Lavigne-Lissalde, Erick Mercier, Jean-Pierre Balducchi
OBJECTIVES: Case reports describe neuropsychiatric manifestations associated with antiphospholipid antibodies (aPlAbs). In patients sharing the same symptoms fulfilling the antiphospholipid syndrome (APS) clinical criteria, the prevalence of common mental disorders has, however, never been studied. METHODS: We observed women with three consecutive abortions before the 10th week of gestation or one foetal loss at or beyond the 10th week. We compared the prevalence of common psychiatric disorders detected through screening using the Mini International Neuropsychiatric Interview, 10 years after inclusion, in women with APS (n = 506), women negative for aPlAbs but carrying the F5rs6025 or F2rs1799963 thrombogenic polymorphism (n = 269), and women with negative thrombophilia screening results as controls (n = 764)...
June 19, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28525775/the-association-between-systemic-lupus-erythematosus-and-bipolar-disorder%C3%A2-%C3%A2-a-big-data-analysis
#16
S Tiosano, Z Nir, O Gendelman, D Comaneshter, H Amital, A D Cohen, D Amital
BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic, autoimmune disease that has a wide variety of physical manifestations, including neuropsychiatric features. Bipolar disorder (BD) is a chronic, episodic illness, that may present as depression or as mania. The objective of this study was to investigate the association between SLE and BD using big data analysis methods. METHODS: Patients with SLE were compared with age- and sex-matched controls regarding the prevalence of BD in a cross-sectional study...
April 4, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28522977/neuropsychiatric-symptoms-in-patients-with-the-main-etiological-types-of-mild-neurocognitive-disorders-a-hospital-based-case-control-study
#17
Oleg A Levada, Nataliya V Cherednichenko, Alexandra S Troyan
BACKGROUND: The diagnostic construct of mild neurocognitive disorders (MNCDs) is substantially congruent with previously proposed criteria for mild cognitive impairment (MCI). MNCD/MCI is associated with neuropsychiatric symptoms (NPS). Previous studies have examined the prevalence of NPS in amnestic and non-amnestic MCI subtypes; however, no studies exist for etiological types of MNCD. We aimed to estimate the prevalence of NPS in patients with MNCD due to Alzheimer's disease (MNCD-AD) and subcortical vascular MNCD (ScVMNCD) and to determine whether NPS would expand these MNCD phenotypes...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28518023/zika-virus-associated-cognitive-impairment-in-adolescent-2016
#18
Jason Zucker, Natalie Neu, Claudia A Chiriboga, Veronica J Hinton, Marc Leonardo, Arif Sheikh, Kiran Thakur
Incidence of neurologic manifestations associated with Zika virus infection has been increasing. In 2016, neuropsychological and cognitive changes developed in an adolescent after travel to a Zika virus-endemic area. Single-photon emission computed tomography and neuropsychological testing raised the possibility that Zika virus infection may lead to neuropsychiatric and cognitive symptoms.
June 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28506823/hyperammonemia-compromises-glutamate-metabolism-and-reduces-bdnf-in-the-rat-hippocampus
#19
Fabiana Galland, Elisa Negri, Carollina Da Ré, Fernanda Fróes, Liliane Strapazzon, Maria Cristina Guerra, Lucas Silva Tortorelli, Carlos-Alberto Gonçalves, Marina Concli Leite
Ammonia is putatively the major toxin associated with hepatic encephalopathy (HE), a neuropsychiatric manifestation that results in cognitive impairment, poor concentration and psychomotor alterations. The hippocampus, a brain region involved in cognitive impairment and depressive behavior, has been studied less than neocortical regions. Herein, we investigated hippocampal astrocyte parameters in a hyperammonemic model without hepatic lesion and in acute hippocampal slices exposed to ammonia. We also measured hippocampal BDNF, a neurotrophin commonly related to synaptic plasticity and cognitive deficit, and peripheral S100B protein, used as a marker for brain damage...
May 12, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28499898/antidepressant-drugs-for-beta-amyloid-induced-depression-a-new-standpoint
#20
Stefania Schiavone, Paolo Tucci, Emanuela Mhillaj, Maria Bove, Luigia Trabace, Maria Grazia Morgese
Mounting evidence suggests that depression represents a risk factor and an early manifestation of Alzheimer's disease (AD). Neuropsychiatric symptoms may derive from neurobiological changes in specific brain areas and may be considered prodromal of dementia. We have previously reported the depressive-like profile in rats receiving a single intracerebroventricular injection of soluble amyloid beta protein (ßA). Here, we verified the effect of different classes of antidepressants on the ßA-induced depressive behavior and on cortical monoamine levels...
August 1, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
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