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Israel Amirav, Mary Roduta Roberts, Huda Mussaffi, Avigdor Mandelberg, Yehudah Roth, Revital Abitbul, Anthony Luder, Hannah Blau, Soliman Alkrinawi, Micha Aviram, Marta Ben-Ami, Moshe Rotschild, Lea Bentur, David Shoseyov, Malena Cohen-Cymberknoh, Eitan Kerem, Avraham Avital, Chaim Springer, Avigdor Hevroni, Husein Dabbah, Arnon Elizur, Elie Picard, Shmuel Goldberg, Joseph Rivlin, Galit Livnat, Moran Lavie, Nael Alias, Ruth Soferman, Heike Olbrich, Johanna Raidt, Julia Wallmeier, Claudius Werner, Niki T Loges, Heymut Omran
Rationale: Primary ciliary dyskinesia (PCD) is under diagnosed and underestimated. Most clinical research has used some form of questionnaires to capture data but none has been critically evaluated particularly with respect to its end-user feasibility and utility. Objective: To critically appraise a clinical data collection questionnaire for PCD used in a large national PCD consortium in order to apply conclusions in future PCD research. Methods: We describe the development, validation and revision process of a clinical questionnaire for PCD and its evaluation during a national clinical PCD study with respect to data collection and analysis, initial completion rates and user feedback...
2016: F1000Research
Gen Kano, Hisashi Tsujii, Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Hisami Kubo, Mizuho Nagao, Takao Fujisawa
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or functional impairment of cilia throughout the whole body. Early diagnosis of PCD is important for the prevention of long‑term sequelae, however early diagnosis is a challenge due to the phenotypic heterogeneity of PCD. In the current study, the patient with PCD was diagnosed at nine years old following several efforts to control intractable airway symptoms. The patient experienced a chronic productive cough beginning in early childhood and had multiple episodes of pneumonia and otitis media with effusion and sinusitis...
October 21, 2016: Molecular Medicine Reports
Li Hui, Mei Han, Guang Zhong Yin, Yingyang Zhang, Xu Feng Huang, Zheng Kang Qian, Wei Guo Gu, Xiao Chu Gu, Xiao Min Zhu, Jair C Soares, Yuping Ning, Yingjun Zheng, Xiang Dong Du, Xiang Yang Zhang
Long-term antipsychotic treatment for schizophrenia is associated with the development of tardive dyskinesia (TD), which is involved in increased cognitive impairment. Dopamine beta-hydroxylase (DBH) gene associated with dopamine and norepinephrine systems influences cognition. Schizophrenia with TD have higher DBH activity than those without TD. This study examined whether DBH5'-insertion/deletion (-Ins/Del) polymorphism could influence cognitive function in schizophrenia with and without TD. The presence of DBH5'-Ins/Del polymorphism was determined in 345 schizophrenia with TD and 397 schizophrenia without TD...
October 21, 2016: Schizophrenia Research
Russell Dahl
Endoplasmic reticulum (ER) stress is intimately linked to Parkinson's disease (PD) pathophysiology. Disrupted intracellular calcium homeostasis is a major cause of the ER stress seen in dopaminergic neurons, leading to the cell death and subsequent loss of movement and coordination in patients. Dysfunctional calcium handling proteins play a major role in the promulgation of ER stress in PD. Specifically, compromised sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA) has been identified as a major cause of ER stress and neuron loss in PD...
October 12, 2016: Bioorganic & Medicinal Chemistry
Francesco Nappi, Cristiano Spadaccio, Antonio Nenna, Mario Lusini, Massimiliano Fraldi, Christophe Acar, Massimo Chello
OBJECTIVE: The symmetry of mitral valve tethering and regional left ventricle wall dysfunction are reported to play a fundamental role in the outcomes and long-term durability of surgical repair in ischemic mitral regurgitation (IMR). We recently demonstrated in a randomized clinical trial (the Papillary Muscle Approximation trial) the superiority of papillary muscle approximation (PMA) in combination with standard restrictive annuloplasty (RA) in severe IMR over annuloplasty alone in terms of adverse left ventricular remodeling and mitral regurgitation (MR) recurrence...
September 24, 2016: Journal of Thoracic and Cardiovascular Surgery
Sooyoung Lee, Masafumi Sanefuji, Michiko Torio, Noriyuki Kaku, Yuko Ichimiya, Soichi Mizuguchi, Haruhisa Baba, Yasunari Sakai, Yoshito Ishizaki, Hiroyuki Torisu, Ryutaro Kira, Toshiro Hara, Shouichi Ohga
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) occurs in children associated with infection. It is characterized by a prolonged febrile seizure in the first phase, and a cluster of seizures, deterioration of consciousness and the white matter lesions with reduced diffusion in the second phase. The patients often have severe neurological sequelae, but the prognostic indicators remain unknown. The present study aimed to clarify the characteristics of AESD patients who subsequently exhibited severe neurological sequelae...
November 15, 2016: Journal of the Neurological Sciences
Chao Han, Shuke Nie, Guiqin Chen, Kai Ma, Nian Xiong, Zhentao Zhang, Yan Xu, Tao Wang, Stella M Papa, Xuebing Cao
Long-term L-DOPA treatment of Parkinson's disease is accompanied with fluctuations of motor responses and L-DOPA-induced dyskinesia (LID). Phosphorylation of the dopamine and c-AMP regulated phosphoprotein of 32 kDa (DARPP-32) plays a role in the pathogenesis of LID, and thus dephosphorylation of this protein by activated calcineurin may help reduce LID. One important activator of calcineurin is the Ca(2+) ionophore ionomycin. Here, we investigated whether intrastriatal injection of ionomycin to hemiparkinsonian rats produced changes in L-DOPA responses including LID...
October 19, 2016: Neuroscience
Na Wei, Xian-En Zhao, Shuyun Zhu, Yongrui He, Longfang Zheng, Guang Chen, Jinmao You, Shu Liu, Zhiqiang Liu
This paper, for the first time, reported a simple, rapid, sensitive and environmental friendly ultrasonic-assisted in situ derivatization-dispersive liquid-liquid microextraction (in situ UAD-DLLME) method followed by ultra high performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) for the simultaneous determination of dopamine (DA), serotonin (5-HT) and their biosynthesis precursors and metabolites in rat brain microdialysates. In this work, a commercial reagent, Lissamine rhodamine B sulfonylchloride (LRSC), was proposed as a derivatization reagent...
December 1, 2016: Talanta
Elżbieta Lorenc-Koci, Anna Czarnecka, Kinga Kamińska, Joanna Knutelska, Małgorzata Zygmunt, Magdalena Dudek
BACKGROUND: Interaction between dopaminergic and nitrergic neurotransmission in the brain plays a crucial role in the control of motor function and in the regulation of blood pressure (BP). In Parkinson's disease (PD), dopaminergic denervation of the striatum leads to disturbances in the nitrergic system in the basal ganglia. Recently, it has been demonstrated that addition of a low dose of the nitric oxide donor molsidomine to l-DOPA therapy improves dopaminergic neurotransmission in the denervated nigrostriatal system and weakens dyskinesias in rodent models of the disease...
September 28, 2016: Pharmacological Reports: PR
Aristide Merola, Alberto Romagnolo, Laura Rizzi, Mario Giorgio Rizzone, Maurizio Zibetti, Michele Lanotte, George Mandybur, Andrew P Duker, Alberto J Espay, Leonardo Lopiano
To determine the clinical and demographic correlates of persistent, remitting, and new-onset impulse control behaviors (ICBs) before and after subthalamic deep brain stimulation (STN-DBS) in Parkinson's disease (PD). We compared the pre- and post-surgical prevalence of ICBs, classified as impulse control disorders (ICD), dopamine dysregulation syndrome (DDS), and punding in 150 consecutive PD STN-DBS-treated patients and determined the association with motor, cognitive, neuropsychological, and neuropsychiatric endpoints...
October 19, 2016: Journal of Neurology
Tafheem Malik, Sheema Hasan, Shahid Pervez, Tasneem Fatima, Darakhshan Jabeen Haleem
The symptoms of Parkinsonism and oral dyskinesia have been showing to be induced by neuroleptics that significantly affect its clinical use. In this study, we investigate whether Nigella sativa-oil (NS) (black cumin seeds)-a traditional medicine used for the seizure treatment in eastern country-may reduce the haloperidol (HAL)-induced extrapyramidal symptoms (EPS)-like behavior in rats. After combine treatment with HAL (1 mg/kg) on NS (0.2 ml/rat), rats displayed a significant decreased EPS-like behavior including movement disorders and oral dyskinesia as compared to controls...
October 18, 2016: Neurochemical Research
Julien Bonenfant, Sophie Drapier, Jean François Houvenaghel, Florian Naudet, Claire Haegelen, Paul Sauleau, Marc Vérin
INTRODUCTION: Over a 3-year period, we monitored the efficacy and safety of deep-brain stimulation of the globus pallidus pars interna in patients with advanced Parkinson's disease whose cognitive, psychiatric impairment and/or dopa-resistant axial motor signs made them ineligible for surgery targeting the subthalamic nucleus. METHODS: A total of 25 patients were assessed before surgery, 1 year and 3 years after surgery, on the UPDRS and a neuropsychological battery...
October 11, 2016: Parkinsonism & related Disorders
Andrew C Naglich, Leigh Anne Nelson, Robijn Hornstra
No abstract text is available yet for this article.
October 4, 2016: Journal of Clinical Psychopharmacology
A A Timofeeva, I I Belozertseva
Parkinson's disease (PD) is a chronic progressive neurodegenerative disease that restricts activities of daily living. The prevalence of PD and inevitable disability show the importance of medical/social expertise (MSE) in the system of care for PD patients. Currently, the MSE is based on the Hoehn and Yahr scale that indicates the prevalence of disease but does not evaluate the severity of symptoms. To assess restrictions of activities of daily living, one should consider non-motor symptoms of PD, movement fluctuations and dyskinesia, the efficacy and tolerability of pharmacological treatment, the use of invasive treatment methods (deep brain stimulation, intrajejunal introduction of duodopa)...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Ritwika Mallik, Sitansu Sekhar Nandi
We present a case of paroxysmal kinesigenic dyskinesia (PKD) in a 21 year old girl, with no family history of similar episodes. The episodes were short (lasting less than a minute), frequent, occurring 5 to 10 times a day, self-limiting dystonia of her right upper limb precipitated by sudden movement. She also had a past history of partial seizures with secondary generalization in her childhood. She responded to phenytoin, with cessation of events after 1 month of treatment. This case impresses upon the hypothesis stating the association between seizure activity and PKD probably due to a common foci of origin...
April 2016: Journal of the Association of Physicians of India
Fernanda F Peres, Raquel Levin, Mayra A Suiama, Mariana C Diana, Douglas A Gouvêa, Valéria Almeida, Camila M Santos, Lisandro Lungato, Antônio W Zuardi, Jaime E C Hallak, José A Crippa, D'Almeida Vânia, Regina H Silva, Vanessa C Abílio
Cannabidiol (CBD) is a non-psychotomimetic compound from Cannabis sativa that presents antipsychotic, anxiolytic, anti-inflammatory, and neuroprotective effects. In Parkinson's disease patients, CBD is able to attenuate the psychotic symptoms induced by L-DOPA and to improve quality of life. Repeated administration of reserpine in rodents induces motor impairments that are accompanied by cognitive deficits, and has been applied to model both tardive dyskinesia and Parkinson's disease. The present study investigated whether CBD administration would attenuate reserpine-induced motor and cognitive impairments in rats...
2016: Frontiers in Pharmacology
O A Gan'kina, E E Vasenina, O S Levin, E Yu Fedotova, S N Illarioshkin
Parkinson's disease (PD) is a common neurodegenerative disease. Literature sources indicate the association of PD and mutations in the glucocerebrosidase A (GBA) gene. According to our study, the frequency of the two most common mutations in the GBA gene, N370S and L444P, is 1.85%. Mutation carriers have slower progression of motor symptoms, but are more likely to develop drug-induced motor fluctuations and dyskinesia. In carriers of GBA mutations, the severity of cognitive impairment corresponds to age-matched patients without mutations...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Yassir Mahgoub, Ahmad Hameed, Andrew Francis
No abstract text is available yet for this article.
2016: Primary Care Companion to CNS Disorders
Navneet Kaur, Puneet Kumar, Sumit Jamwal, Rahul Deshmukh, Vinod Gauttam
BACKGROUND: Tetrabenazine (TBZ) is the only US Food and Drug Administration-approved drug for the treatment of chorea related to Huntington's disease and other hyperkinetic disorders. TBZ was first synthesized in 1950, and was then used for the treatment of psychosis. But later its potential in treating hyperkinetic disorders was proved by its ability to block vesicular monoamine transporters 2 and deplete monoamine stores. There is still lack of awareness about the therapeutic potential of this drug...
September 2016: Annals of Neurosciences
Y E M Dreissen, D C Cath, M A J Tijssen
Functional jerks are among the most common functional movement disorders. The diagnosis of functional jerks is mainly based on neurologic examination revealing specific positive clinical signs. Differentiation from other jerky movements, such as tics, organic myoclonus, and primary paroxysmal dyskinesias, can be difficult. In support of a functional jerk are: acute onset in adulthood, precipitation by a physical event, variable, complex, and inconsistent phenomenology, suggestibility, distractibility, entrainment and a Bereitschaftspotential preceding the movement...
2017: Handbook of Clinical Neurology
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