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neuropsychiatric signs

David S Lynch, Wei Jia Zhang, Rahul Lakshmanan, Justin A Kinsella, Günes Altiokka Uzun, Merih Karbay, Zeynep Tüfekçioglu, Hasmet Hanagasi, Georgina Burke, Nicola Foulds, Simon R Hammans, Anupam Bhattacharjee, Heather Wilson, Matthew Adams, Mark Walker, James A R Nicoll, Jeremy Chataway, Nick Fox, Indran Davagnanam, Rahul Phadke, Henry Houlden
Importance: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) gene. The discovery that CSF1R mutations cause ALSP led to more accurate prognosis and genetic counseling for these patients in addition to increased interest in microglia as a target in neurodegeneration. However, it has been known since the discovery of the CSF1R gene that there are patients with typical clinical and radiologic evidence of ALSP who do not carry pathogenic CSF1R mutations...
October 17, 2016: JAMA Neurology
William A Carlezon, Andrew D Krystal
Kappa-opioid receptor (KOR) antagonists are currently being considered for the treatment of a variety of neuropsychiatric conditions, including depressive, anxiety, and substance abuse disorders. A general ability to mitigate the effects of stress, which can trigger or exacerbate these conditions, may explain their putative efficacy across such a broad array of conditions. The discovery of their potentially therapeutic effects evolved from preclinical research designed to characterize the molecular mechanisms by which experience causes neuroadaptations in the nucleus accumbens (NAc), a key element of brain reward circuitry...
October 2016: Depression and Anxiety
L N Nsiangani, D Kaimbo Wa Kaimbo, M L Kazumba
We report the case of a 13-year-old girl who consulted for blurred vision, pain, and redness in her left eye. Ophthalmologic examination revealed chronic, hypertensive, and non-granulomatous anterior uveitis. The disease course was marked by a reversal of diurnal rhythm, with daytime sleepiness and behavioral disorders. A neuropsychiatric examination suggested human African trypanosomiasis (HAT), or sleeping sickness. The diagnosis was confirmed by the detection of Trypanosoma in the cerebrospinal fluid. The NECT regimen (nifurtimox-eflornithine combination therapy) was administered as medical treatment and resulted in the disappearance of all clinical signs...
August 1, 2016: Médecine et Santé Tropicales
V Calabrese, J Giordano, M Ruggieri, D Berritta, A Trovato, M L Ontario, R Bianchini, E J Calabrese
In the United States, 1.1-1.5% of children have been diagnosed with autism spectrum disorders (ASD), corresponding to a 30% increase in incidence and prevalence. Social and communication impairments are the main signs and symptoms of ASD, and currently available medications have been ineffective in reducing these core deficits. Observational studies have indicated that children with ASD tend to show improved cognition and behavior after febrile illness, which is associated with alteration of metabolic pathways, leading to cellular stress responses and increased expression of heat shock proteins (Hsps)...
December 2016: Journal of Neuroscience Research
Cunxiu Fan, Yuhua Zhao, Qian Yu, Wu Yin, Haipeng Liu, Jianzhong Lin, Tianhe Yang, Ming Fan, Luobu Gesang, Jiaxing Zhang
A large proportion of lowlanders ascending to high-altitude (HA) show no signs of mountain sickness. Whether their brains have indeed suffered from HA environment and the persistent sequelae after return to lowland remain unknown. Thirty-one sea-level college students, who had a 30-day teaching on Qinghai-Tibet plateau underwent MRI scans before, during, and two months after HA exposure. Brain volume, cortical structures, and white matter microstructure were measured. Besides, serum neuron-specific enolase (NSE), C-reactive protein, and interleukin-6 and neuropsychiatric behaviors were tested...
2016: Scientific Reports
Chiara Dordoni, Claudia Ciaccio, Graziano Santoro, Marina Venturini, Ugo Cavallari, Marco Ritelli, Marina Colombi
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that primarily involves skeletal, ocular, and cardiovascular systems with large inter- and intra-familial variability in terms of age of onset, severity, and aortic disease. The causal gene, FBN1, encodes for fibrillin 1, a multi-domain glycoprotein essential for many biological functions, including deposition and formation of elastic fibers. Reports describing chromosomal alterations involving FBN1 are rare, but in the last years their number has increased after copy number state analyses, such as multiplex ligation-dependent probe amplification and microarray-based comparative genomic hybridization, were adopted as routine diagnostic tools...
September 12, 2016: American Journal of Medical Genetics. Part A
S N Bian, H H Yang, Q Wang, D Xu, Y Zhao
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized with multiple organ involvements. Acute acalculous cholecystitis(AAC) is an extremely rare manifestation of digestive system involvement in SLE. We reported a case of 32-year-old woman who complained skin rashes for two weeks and stomachache and oliguria for one day. She had rashes at onset, and developed fever, stomachache, hypotension and headache. Physical examination at admission indicated blood pressure 76/47 mmHg(1 mmHg=0.133 kPa), heart rate 107 beats/min, warm acra...
September 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
Xiao Dong Zhang, Xiao Lu Jiang, Zhen Cheng, Yan Zhou, Qiang Xu, Zhi Qiang Zhang, Rongfeng Qi, Song Luo, Yan Su Yun, Hui Juan Chen, Xiang Kong, Guang Ming Lu, Long Jiang Zhang
In this study, we seek to explore alterations of coupling between functional connectivity density (FCD) and amplitude of low frequency fluctuation (ALFF) in systemic lupus erythematosus patients without overt neuropsychiatric symptoms (non-NPSLE) by using resting-state functional MR imaging. This study was approved by the institutional ethical review board, and all participants signed written informed consent prior to the study. Twenty six non-NPSLE patients and 35 matched healthy controls underwent resting-state functional MR imaging...
August 30, 2016: Molecular Neurobiology
Max Tsai, Lambros Chrones, Jinhui Xie, Hakop Gevorkyan, Thomas A Macek
RATIONALE: Schizophrenia is a complex neuropsychiatric disorder characterized, in part, by impaired dopamine signaling. TAK-063 is a selective inhibitor of phosphodiesterase 10A, a key regulator of intracellular signaling pathways that is highly expressed in the striatum. OBJECTIVE: Safety, tolerability, and pharmacokinetics of TAK-063 were evaluated in a phase 1 study. METHODS: Healthy Japanese and non-Japanese volunteers were randomized into dose cohorts of 3, 10, 30, 100, 300, and 1000 mg...
October 2016: Psychopharmacology
Nguyet-Cam Vu Lam, Maria V Ghetu, Marzena L Bieniek
Systemic lupus erythematosus is an autoimmune disease that affects many systems, including the skin, musculoskeletal, renal, neuropsychiatric, hematologic, cardiovascular, pulmonary, and reproductive systems. Family physicians should be familiar with the manifestations of lupus to aid in early diagnosis, monitoring patients with mild disease, recognizing warning signs that require referral to a rheumatologist, and helping to monitor disease activity and treatment in patients with moderate to severe disease...
August 15, 2016: American Family Physician
Axel Van Der Gucht, Laurent Cleret de Langavant, Ophélie Bélissant, Corentin Rabu, Anne-Ségolène Cottereau, Eva Evangelista, Julia Chalaye, Sophie Bonnot-Lours, Gilles Fénelon, Emmanuel Itti
A 67-year-old man was referred for fluctuating neuropsychiatric symptoms, featuring depression, delirious episodes, recurrent visual hallucinations and catatonic syndrome associated with cognitive decline. No parkinsonism was found clinically even under neuroleptic treatment. (18)F-FDG PET/CT showed hypometabolism in the posterior associative cortex including the occipital cortex, suggesting Lewy body dementia, but (123)I-FP-CIT SPECT was normal and cardiac (123)I-MIBG imaging showed no signs of sympathetic denervation...
September 2016: Nuclear Medicine and Molecular Imaging
Audrey Maillet, Paul Krack, Eugénie Lhommée, Elise Météreau, Hélène Klinger, Emilie Favre, Didier Le Bars, Emmanuelle Schmitt, Amélie Bichon, Pierre Pelissier, Valérie Fraix, Anna Castrioto, Véronique Sgambato-Faure, Emmanuel Broussolle, Léon Tremblay, Stéphane Thobois
SEE SCHRAG AND POLITIS DOI101093/AWW190 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Apathy, which can occur separately or in combination with depression and anxiety, is one of the most frequently encountered neuropsychiatric symptoms in Parkinson's disease. Pathophysiological evidence suggests that parkinsonian apathy is primarily due to a mesolimbic dopaminergic denervation, but the role of the serotonergic alteration has never been examined, despite its well-known involvement in the pathogenesis of depression and anxiety...
September 2016: Brain: a Journal of Neurology
M Al-Obaidi, D Saunders, S Brown, L Ramsden, N Martin, E Moraitis, C A Pilkington, P A Brogan, D Eleftheriou
The aim of this study was to describe the abnormalities identified with conventional MRI in children with neuropsychiatric systemic lupus erythematosus (NPSLE). This was single-centre (Great Ormond Street Hospital, London) retrospective case series of patients with juvenile NPSLE seen in 2003-2013. Brain MR images of the first episode of active NPSLE were reviewed. All patients fulfilled the 1999 ACR case definitions for NPSLE syndromes. Presenting neuropsychiatric manifestations, immunological findings and treatment are reported...
October 2016: Clinical Rheumatology
Alexander J Shackman, Andrew S Fox
It is widely thought that phasic and sustained responses to threat reflect dissociable circuits centered on the central nucleus of the amygdala (Ce) and the bed nucleus of the stria terminalis (BST), the two major subdivisions of the central extended amygdala. Early versions of this hypothesis remain highly influential and have been incorporated into the National Institute of Mental Health Research Research Domain Criteria framework. However, new observations encourage a different perspective. Anatomical studies show that the Ce and BST form a tightly interconnected unit, where different kinds of threat-relevant information can be integrated and used to assemble states of fear and anxiety...
August 3, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Cinzia Galasso, Livia Casarelli, Nadia El Malhany, Maria B Pitzianti, Simonetta Spiridigliozzi, Paolo Curatolo, Augusto Pasini
BACKGROUND: Neurofibromatosis type 1 is a common neurogenetic disorder affecting nervous system, caused by germiline mutations of the NF1 gene. Although the clinical diagnosis of NF1 is defined by presence of cafe-au-laits spots, freckling and benign tumours (neurofibromatosis), neurocognitive impairment and neuropsychiatric disorders are reported in comorbidity. Children with NF1 show higher incidence of executive deficits, such attention, response inhibition, executive planning and problem solving, working memory, and learning impairment...
July 8, 2016: Minerva Pediatrica
Chiara Spinello, Giovanni Laviola, Simone Macrì
Accumulating evidence suggests that Tourette's Syndrome (TS) - a multifactorial pediatric disorder characterized by the recurrent exhibition of motor tics and/or vocal utterances - can partly depend on immune dysregulation provoked by early repeated streptococcal infections. The natural and adaptive antibody-mediated reaction to streptococcus has been proposed to potentially turn into a pathological autoimmune response in vulnerable individuals. Specifically, in conditions of increased permeability of the blood brain barrier (BBB), streptococcus-induced antibodies have been proposed to: (i) reach neuronal targets located in brain areas responsible for motion control; and (ii) contribute to the exhibition of symptoms...
2016: Frontiers in Neuroscience
S Appenzeller, F Reis, L T Lavras Costallat, J Adams Pérez, C F Saldanha, O A Monticielo
Systemic lupus erythematosus (SLE) is a chronic inflammatory disease that involves many organs and systems. Nervous system involvement in SLE encompasses neurological and psychiatric disorders, and remains a diagnostic and therapeutic challenge. Wernicke's encephalopathy (WE) is a neurological disorder that occurs as a consequence of thiamine deficiency, and its clinical presentation resembles the neuropsychiatric events attributed to SLE (NPSLE). Differentiation between these two entities is crucial because their treatment differs greatly and can change prognosis...
July 14, 2016: Lupus
Anne M Riederer, Sharan L Campleman, Robert G Carlson, Edward W Boyer, Alex F Manini, Paul M Wax, Jeffrey A Brent
Recent reports suggest that acute intoxications by synthetic cannabinoids are increasing in the United States (1,2). Synthetic cannabinoids, which were research compounds in the 1980s, are now produced overseas; the first shipment recognized to contain synthetic cannabinoids was seized at a U.S. border in 2008 (3). Fifteen synthetic cannabinoids are Schedule I controlled substances (3), but enforcement is hampered by the continual introduction of new chemical compounds (1,3). Studies of synthetic cannabinoids indicate higher cannabinoid receptor binding affinities, effects two to 100 times more potent than Δ(9)-tetrahydrocannabinol (the principal psychoactive constituent of cannabis), noncannabinoid receptor binding, and genotoxicity (4,5)...
2016: MMWR. Morbidity and Mortality Weekly Report
Shinichi Matsumoto, Nagahisa Murakami, Hidetaka Koizumi, Masatoshi Takahashi, Yuishin Izumi, Ryuji Kaji
BACKGROUND: Blepharospasm is typically diagnosed by excluding any secondary diseases and neuropsychiatric disorders, as specific tests for blepharospasm are currently unavailable. Since anticholinergic agents are used to improve the symptoms of dystonia, we hypothesized that edrophonium chloride, an acetylcholinesterase inhibitor, may make the symptoms of dystonia more apparent. Therefore, we examined whether an edrophonium challenge test would be useful for diagnosing blepharospasm. METHODS: We studied 10 patients with blepharospasm and 10 with hemifacial spasms (as disease controls)...
2016: Frontiers in Neuroscience
S Halayem, M Hammami, R Fakhfakh, N Gaddour, K Tabbane, I Amado, M-O Krebs, A Bouden
BACKGROUND: Neurological soft signs (NSS) include anomalies in motor integration, coordination, sensory integration and lateralization and could be endophenotypic markers in autism spectrum disorders (ASD). Their characterization provides a more precise phenotype of ASD and more homogeneous subtypes to facilitate clinical and genetic research. Few scales for NSS have been adapted and validated in children including children with ASD. Our objective was to perform an adaptation to the child of a scale assessing neurological soft signs and a validation study in both general and clinical populations...
June 24, 2016: L'Encéphale
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