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https://www.readbyqxmd.com/read/28742507/severe-neurological-abnormalities-in-a-young-boy-with-impaired-thyroid-hormone-sensitivity-due-to-a-novel-mutation-in-the-mct8-gene
#1
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28741982/multimodal-mr-imaging-signatures-of-cognitive-impairment-in-active-professional-fighters
#2
Virendra R Mishra, Xiaowei Zhuang, Karthik R Sreenivasan, Sarah J Banks, Zhengshi Yang, Charles Bernick, Dietmar Cordes
Purpose To investigate whether combining multiple magnetic resonance (MR) imaging modalities such as T1-weighted and diffusion-weighted MR imaging could reveal imaging biomarkers associated with cognition in active professional fighters. Materials and Methods Active professional fighters (n = 297; 24 women and 273 men) were recruited at one center. Sixty-two fighters (six women and 56 men) returned for a follow-up examination. Only men were included in the main analysis of the study. On the basis of computerized testing, fighters were separated into the cognitively impaired and nonimpaired groups on the basis of computerized testing...
July 25, 2017: Radiology
https://www.readbyqxmd.com/read/28738275/early-childhood-myoclonic-epilepsy-an-independent-genetic-generalized-epilepsy-with-myoclonic-seizures-as-the-main-seizure-type
#3
Zhixian Yang, Jiao Xue, Hui Li, Ping Qian, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang
OBJECTIVE: To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification. METHODS: Forty-two children were retrospectively recruited between January 2006 and June 2015. RESULTS: The mean age of seizure onset was 40.5months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences...
July 6, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28736150/prenatal-environmental-chemical-exposures-and-longitudinal-patterns-of-child-neurobehavior
#4
Joseph M Braun, Kimberly Yolton, Shaina L Stacy, Bahar Erar, George D Papandonatos, David C Bellinger, Bruce P Lanphear, Aimin Chen
BACKGROUND: Prenatal chemical exposures may adversely affect neurodevelopment, but few studies have examined the persistence of these associations. We examined whether associations between prenatal bisphenol A (BPA) or polybrominated diphenyl ether (PBDE) exposures persist or resolve as children age. METHODS: We followed 346 mother-child pairs (enrolled 2003-2006) from Cincinnati, OH from pregnancy until children were 8 years old. We measured BPA in urine collected at 16 and 26 weeks gestation and PBDE-47 in serum collected at 16 weeks gestation...
July 20, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28734777/inhibitor-mechanisms-in-the-s1-binding-site-of-the-dopamine-transporter-defined-by-multi-site-molecular-tethering-of-photoactive-cocaine-analogs
#5
Danielle Krout, Akula Bala Pramod, Rejwi Acharya Dahal, Michael J Tomlinson, Babita Sharma, James D Foster, Mu-Fa Zou, Comfort Boatang, Amy Hauck Newman, John R Lever, Roxanne A Vaughan, L Keith Henry
Dopamine transporter (DAT) blockers like cocaine and many other abused and therapeutic drugs bind and stabilize an inactive form of the transporter inhibiting reuptake of extracellular dopamine (DA). The resulting increases in DA lead to the ability of these drugs to induce psychomotor alterations and addiction, but paradoxical findings in animal models indicate that not all DAT antagonists induce cocaine-like behavioral outcomes. How this occurs is not known, but one possibility is that uptake inhibitors may bind at multiple locations or in different poses to stabilize distinct conformational transporter states associated with differential neurochemical endpoints...
July 19, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28729328/comparative-safety-of-antiepileptic-drugs-for-neurological-development-in-children-exposed-during-pregnancy-and-breast-feeding-a-systematic-review-and-network-meta-analysis
#6
Areti Angeliki Veroniki, Patricia Rios, Elise Cogo, Sharon E Straus, Yaron Finkelstein, Ryan Kealey, Emily Reynen, Charlene Soobiah, Kednapa Thavorn, Brian Hutton, Brenda R Hemmelgarn, Fatemeh Yazdi, Jennifer D'Souza, Heather MacDonald, Andrea C Tricco
OBJECTIVES: Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. DESIGN AND SETTING: Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. PARTICIPANTS: 29 cohort studies including 5100 infants/children...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28728964/association-between-proton-pump-inhibitor-use-and-cognitive-function-in-women
#7
Paul Lochhead, Kaitlin Hagan, Amit D Joshi, Hamed Khalili, Long H Nguyen, Francine Grodstein, Andrew T Chan
BACKGROUND & AIMS: Studies have reported associations between proton pump inhibitor (PPI) use and dementia. However, data are lacking on long-term PPI use and cognitive function. We therefore examined associations between PPI use and performance in tests of cognitive function. Because of shared clinical indications, we examined associations for H2 receptor antagonists (H2RAs) as a secondary aim. METHODS: We used prospectively collected data on medication use and other potential risk factors from 13,864 participants in the Nurses' Health Study II who had completed a self-administered computerized neuropsychological test battery...
July 17, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28728622/psychomotor-vigilance-test-and-its-association-with-daytime-sleepiness-and-inflammation-in-sleep-apnea-clinical-implications
#8
Yun Li, Alexandros Vgontzas, Ilia Kritikou, Julio Fernandez-Mendoza, Maria Basta, Slobodanka Pejovic, Jordan Gaines, Edward O Bixler
STUDY OBJECTIVES: Excessive daytime sleepiness (EDS) is a key symptom of obstructive sleep apnea (OSA). The Psychomotor Vigilance Task (PVT) has been suggested as an objective easy-to-use, inexpensive alternative to the Multiple Sleep Latency Test (MSLT) to measure EDS. In patients with OSA, physiological sleepiness, but not subjective EDS (Epworth Sleepiness Scale [ESS]), has been associated with increased levels of the sleep- inducing proinflammatory cytokine interleukin-6 (IL-6). The goal of this study was to assess the association of PVT with objectively measured sleepiness (MSLT) and subjectively measured sleepiness (ESS) and IL-6 levels in patients with OSA...
July 14, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28728115/smoked-marijuana-attenuates-performance-and-mood-disruptions-during-simulated-night-shift-work
#9
Diana R Keith, Erik W Gunderson, Margaret Haney, Richard W Foltin, Carl L Hart
Individuals who work nonstandard schedules, such as rotating or night shifts, are more susceptible to workplace injuries, performance decrements, and reduced productivity. This population is also almost twice as likely to use illicit drugs as individuals working a standard day shift. The purpose of this study was to examine the effects of smoked marijuana on performance, mood, and sleep during simulated shift work. Ten experienced marijuana smokers completed this 23-day, within-participant residential study...
June 28, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28725569/psychiatric-adult-onset-of-urea-cycle-disorders-a-case-series
#10
Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C Tchan, François Maillot
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28723276/can-an-app-help-identify-psychomotor-function-impairments-during-drinking-occasions-in-the-real-world-a-mixed-method-pilot-study
#11
Brian Suffoletto, Akash Goyal, Juan Carlos Puyana, Tammy Chung
BACKGROUND: Being able to measure the acute effects of alcohol consumption on psychomotor functions in natural settings could be useful in injury prevention interventions. This study examined the feasibility and acceptability of collecting app-based measures of information processing, working memory and gait stability during times of typical alcohol consumption among young adults. METHODS: Ten young adults (aged 21-26) with hazardous drinking completed a baseline assessment and ecological momentary assessments (EMA) on 4 consecutive Fridays and Saturdays, every hour from 8pm to 12am...
July 19, 2017: Substance Abuse
https://www.readbyqxmd.com/read/28721930/pharmacoresistant-epileptic-eyelid-twitching-in-a-child-with-a-mutation-in-syngap1
#12
Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, Shinji Saitoh, Masachika Kai, Kaori Adachi, Yoko Nishimura, Eiji Nanba, Yoshihiro Maegaki
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28721049/the-potential-role-of-vagus-nerve-stimulation-in-the-treatment-of-hiv-associated-depression-a-review-of-literature
#13
REVIEW
William C Nicholson, Mirjam-Colette Kempf, Linda Moneyham, David E Vance
Depression is the most common comorbidity and neuropsychiatric complication in HIV. Estimates suggest that the prevalence rate for depression among HIV-infected individuals is three times that of the general population. The association between HIV and clinical depression is complex; however, chronic activation of inflammatory mechanisms, which disrupt central nervous system (CNS) function, may contribute to this association. Disruptions in CNS function can result in cognitive disorders, social withdrawal, fatigue, apathy, psychomotor impairment, and sleep disturbances, which are common manifestations in depression and HIV alike...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28718346/effect-of-desvenlafaxine-50-mg-and-100-mg-on-energy-and-lassitude-in-patients-with-major-depressive-disorder-a-pooled-analysis
#14
Raymond W Lam, Dalia B Wajsbrot, Ellen Meier, Elizabeth Pappadopulos, Joan A Mackell, Matthieu Boucher
Nine randomized, double-blind, placebo-controlled studies of major depressive disorder were pooled to evaluate the effects of desvenlafaxine 50- and 100-mg/d on energy and lassitude in adults with major depressive disorder ( n=4279). Changes from baseline to endpoint in 17-item Hamilton Rating Scale for Depression (HAM-D17) Work and Activities, Retardation, and Somatic Symptoms General items, HAM-D17 psychomotor retardation factor, and Montgomery-Åsberg Depression Rating Scale Lassitude item were analyzed with a mixed model for repeated measures analysis of variance...
July 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28716072/effect-of-prenatal-exposure-to-maternal-cortisol-and-psychological-distress-on-infant-development-in-bengaluru-southern-india-a-prospective-cohort-study
#15
Anita Nath, Gudlavalleti Venkata Satyanarayana Murthy, Giridhara R Babu, Gian Carlo Di Renzo
BACKGROUND: The mental health status of a pregnant woman and its consequent impact on foetal well being is not given much importance compared to the risk imposed by obstetric complications and medical conditions. Maternal psychological distress is a major public health problem and needs timely detection and intervention to prevent any adverse pregnancy outcome. There is ample evidence from literature that justifies the association of prenatal maternal mental stress and elevated cortisol with delayed infant motor and cognitive development; evidence from India being rather limited...
July 17, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28715787/micronutrients-during-pregnancy-and-child-psychomotor-development-opposite-effects-of-zinc-and-selenium
#16
Kinga Polanska, Wojciech Hanke, Anna Krol, Jolanta Gromadzinska, Renata Kuras, Beata Janasik, Wojciech Wasowicz, Fiorino Mirabella, Flavia Chiarotti, Gemma Calamandrei
Studies on the impact of micronutrient levels during different pregnancy periods on child psychomotor functions are limited. The aim of this study was to evaluate the association between maternal plasma concentrations of selected micronutrients, such as: copper (Cu), zinc (Zn), selenium (Se), and child neuropsychological development. The study population consisted of 539 mother-child pairs from Polish Mother and Child Cohort (REPRO_PL). The micronutrient levels were measured in each trimester of pregnancy, at delivery and in the cord blood...
July 14, 2017: Environmental Research
https://www.readbyqxmd.com/read/28714930/environmental-tobacco-smoke-exposure-during-pregnancy-and-child-neurodevelopment
#17
Kinga Polanska, Anna Krol, Dorota Merecz-Kot, Danuta Ligocka, Karolina Mikolajewska, Fiorino Mirabella, Flavia Chiarotti, Gemma Calamandrei, Wojciech Hanke
The developing fetus is especially vulnerable to environmental toxicants, including tobacco constituents. The aim of this study was to assess the impact of environmental tobacco smoke (ETS) exposure during pregnancy on child neurodevelopment within the first two years of life. The study population consisted of 461 non-smoking pregnant women (saliva cotinine level <10 ng/mL). Maternal passive smoking was assessed based on the cotinine level in saliva analyzed by the use of high-performance liquid chromatography coupled with tandem mass spectrometry (HPLC-ESI + MS/MS) and by questionnaire data...
July 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28713296/affective-and-engagement-issues-in-the-conception-and-assessment-of-a-robot-assisted-psychomotor-therapy-for-persons-with-dementia
#18
Natacha Rouaix, Laure Retru-Chavastel, Anne-Sophie Rigaud, Clotilde Monnet, Hermine Lenoir, Maribel Pino
The interest in robot-assisted therapies (RAT) for dementia care has grown steadily in recent years. However, RAT using humanoid robots is still a novel practice for which the adhesion mechanisms, indications and benefits remain unclear. Also, little is known about how the robot's behavioral and affective style might promote engagement of persons with dementia (PwD) in RAT. The present study sought to investigate the use of a humanoid robot in a psychomotor therapy for PwD. We examined the robot's potential to engage participants in the intervention and its effect on their emotional state...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28712486/myoclonic-epilepsy-in-infancy-with-preceding-or-concurrent-afebrile-generalized-tonic-clonic-seizures-in-chinese-children
#19
Zhixian Yang, Hui Li, Jiao Xue, Ping Qian, Xiaoyan Liu, Yuehua Zhang
OBJECTIVE: To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS). METHODS: Thirty-three children were retrospectively recruited from approximately 42,814 video-electroencephalogram (VEEG) recordings monitored in our department over last nearly 10years. Myoclonic seizures (MS) must be identified by VEEG in all patients. The clinical, EEG features and outcome were analyzed among these patients...
July 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28708753/effectiveness-of-preoperative-intranasal-dexmedetomidine-compared-with-oral-midazolam-for-the-prevention-of-emergence-delirium-in-the-pediatric-patient-undergoing-general-anesthesia-a-systematic-review
#20
James FitzSimons, Laura S Bonanno, Stephanie Pierce, Jennifer Badeaux
BACKGROUND: Emergence delirium is defined as a cognitive disturbance during emergence from general anesthesia resulting in hallucinations, delusions and confusion manifested by agitation, restlessness, involuntary physical movement and extreme flailing in bed. Postoperative emergence delirium develops in 12% to 18% of all children undergoing general anesthesia for surgery. This post-anesthetic phenomenon changes cognitive and psychomotor behavior, and puts pediatric patients and health care personnel at risk of injury...
July 2017: JBI Database of Systematic Reviews and Implementation Reports
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