نتایج جستجو برای: spatz syndrome

تعداد نتایج: 622004  

Journal: :British journal of pharmacology 2005
Anna Kloda David J Adams

The effect of 5-HT and related indolealkylamines on heteromeric recombinant NMDA receptors expressed in Xenopus oocytes was investigated using the two-electrode voltage-clamp recording technique. In the absence of external Mg(2+) ions, 5-HT inhibited NMDA receptor-mediated currents in a concentration-dependent manner. The inhibitory effect of 5-HT was independent of the NR1a and NR2 subunit com...

Journal: :Journal of intellectual disability research : JIDR 2007
K Freeman A Gregory A Turner P Blasco P Hogarth S Hayflick

BACKGROUND Pantothenate kinase-associated neurodegeneration (PKAN), an extremely rare autosomal recessive disorder resulting in iron accumulation in the brain, has a diverse phenotypic expression. Based on limited case studies of one or two patients, intellectual impairment is considered part of PKAN. Investigations of cognitive functioning have utilized specific neuropsychological tests, witho...

Journal: :African health sciences 2012
A Ajayi Iyiade J Omotoye Olusola

BACKGROUND Welders have been identified as a high risk group for eye disorders due to their exposure to ultraviolet radiation. OBJECTIVE To determine the prevalence and types of eye diseases amongst welders in Ile-Ife, Osun state. METHODS This is a cross sectional descriptive study of 405 consenting welders. Information on socio-demographic characteristics was obtained using a pre-tested pr...

2014
Peter Johnson Roxanne Melbourne-Chambers Nilesh Desai Emma Greenaway

We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations in PANK2. This...

2015
James E. Vincenti Lita Murphy Kathleen Grabert Barry W. McColl Enrico Cancellotti Tom C. Freeman Jean C. Manson

UNLABELLED Inflammation has been proposed as a major component of neurodegenerative diseases, although the precise role it plays has yet to be defined. We examined the role of key contributors to this inflammatory process, microglia, the major resident immune cell population of the brain, in a prion disease model of chronic neurodegeneration. Initially, we performed an extensive reanalysis of a...

2016
Erin Ann Williams Erin A. Williams ERIN A. WILLIAMS Cathy Spatz Widom Maureen Allwood Angela Crossman Lila Kazemian Nonda Volpe

THE EFFECTS OF CHILDHOOD SEXUAL ABUSE ON PARENTING By Erin A. Williams Adviser: Professor Cathy Spatz Widom Childhood sexual abuse (CSA) is a pervasive problem that has been the focus of substantial empirical research. While negative outcomes such as psychiatric diagnoses or health problems have been well documented, the literature regarding the effects of CSA on parenting is sparse and has pro...

Journal: :Neuro-degenerative diseases 2011
Iga Wegorzewska Robert H Baloh

The clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) suggests these diseases share common underlying mechanisms, a suggestion underscored by the discovery that TDP-43 inclusions are a key pathologic feature in both ALS and FTLD. This finding, combined with the identification of TDP-43 mutations in ALS, directly implicates...

Journal: :The Journal of physiology 2001
T H Gillingwater R R Ribchester

This review focuses on recent developments in our understanding of neurodegeneration at the mammalian neuromuscular junction. We provide evidence to support a hypothesis of compartmental neurodegeneration, whereby synaptic degeneration occurs by a separate, distinct mechanism from cell body and axonal degeneration. Studies of the spontaneous mutant Wld(s) mouse, in which Wallerian degeneration ...

پایان نامه :دانشگاه آزاد اسلامی - دانشگاه آزاد اسلامی واحد علوم دارویی - دانشکده داروسازی 1393

hand-foot syndrome (hfs)یک عارضه جانبی پوستی میباشد که در برخی بیماران تحت درمان با فلوروپیرمیدین ها دیده میشوداخیرا مشاهده شده است که گیاه حنا و اشکال مصرف سنتی آن (و نه فراورده دارویی آن) ممکن است در کاهش hfs ناشی از کپسیتابین موثر باشد.بنابراین آماده سازی یک شکل دارویی استاندارد و ماندگار و ارزیابی کارآمدی آن، هدف این مطالعه میباشد.در این راستا پس از تعیین مقدار و آنالیز عصاره حنا ، به ساخت ...

Journal: :Endoscopy 2017
Marco A D'Assunçao Fernando Lander Mota Lucas S Nova da Costa Willian Ferreira Igi Dejan Radenkovic Alvaro Martinez-Alcalá Paul T Kröner

Bariatric endoscopy is a novel and expanding field in gastrointestinal (GI) endoscopy [1]. The most common bariatric endoscopy procedure is intragastric balloon (IGB) placement [2]. Currently most training occurs with a proctor and a patient. Of course, this approach has potential ethical disadvantages [3], and obtaining the skills for IGB placement using an ex vivo hands-on model would be an i...

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