neuromuscular channelopathies in children

نویسندگان

محمود محمدی

mohammad mohammadi professor of pediatric neurology, tehran university of medical sciences,

چکیده

channelopathies are disturbances of the cellular membrane channels function. ion channels are actually membrane-bound proteins that perform key functions in virtually all human cells. these channels play pivotal role in the function of excitable tissues such as muscle and nerve. so channelopathies are diverse clinical entities involving many organs and systems (i.e., endocrine, respiratory, gastrointestinal as well as some other systems). our knowledge about these disorders is now expanding and an increasing number of human diseases associated with dysfunctional ion channels are now recognized. in neuromuscular system some of these diseases are genetically mediated while the others are immunologically induced. in my talk, i will address some of these disorders in children mainly involving neuromuscular junction as well as muscle itself. i will also emphasize on differential diagnosis, clinical, electrophysiologic, genetic and autoimmune aspects of these expanding group of disorders mainly in pediatric patients.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Neuromuscular junction channelopathies: a brief overview.

The neuromuscular junction lacks the protection of the blood-nerve barrier and is vulnerable to antibody-mediated disorders. In myasthenia gravis (MG), 85% of patients have IgG antibodies to acetylcholine receptors (AChRs). About half the remaining patients have IgG antibodies to Muscle Specific Kinase (MuSK), an AChR-associated transmembrane post-synaptic protein concerned in AChR aggregation....

متن کامل

Neuromuscular Disabilities in Children

Chairman Perlstein.’ In neuromuscular disabilities there are many problems to consider. However, about half of these comprise that group of diseases we know as cerebral palsy. We will start by orientating ourselves toward cerebral palsy, and in the discussion taking up the question of differential diagnosis and related subjects. Cerebral palsy is not a single disease but a group of conditions w...

متن کامل

Neuromuscular blockade in children.

Neuromuscular blocking agents (NMBAs) have been widely used to control patients who need to be immobilized for some kind of medical intervention, such as an invasive procedure or synchronism with mechanical ventilation. The purpose of this monograph is to review the pharmacology of the NMBAs, to compare the main differences between the neuromuscular junction in neonates, infants, toddlers and a...

متن کامل

domestication and foreignization in children literature translation

این پایان نامه به بررسی بومی سازی و بیگانه سازی در ادبیات کودکان مخصوصا زانر فانتزی می پردازد. در این پایان نامه ترجمه 14 کتاب داستان فانتزی برای سه گروه سنی کودکان بر اساس مدل ونوتی یعنی بومی سازی و بیگانه سازی مقاسه شدندکه در نتیجه برای سه گروه سنی از هر دو استراتزی توسط مترجمان در ترجمه کلمات فرهنگی استفاده شده است.

Channelopathies

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system...

متن کامل

Hereditary channelopathies in neurology.

Ion channelopathies are caused by malfunction or altered regulation of ion channel proteins due to hereditary or acquired protein changes. In neurology, main phenotypes include certain forms of epilepsy, ataxia, migraine, neuropathic pain, myotonia, and muscle weakness including myasthenia and periodic paralyses. The total prevalence of monogenic channelopathies in neurology is about 35:100,000...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید


عنوان ژورنال:
genetics in the 3rd millennium

جلد ۶، شماره ۳، صفحات ۱۳۹۷-۱۳۹۷

کلمات کلیدی

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023