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Thyrotoxic periodic paralysis (TPP) is characterized by episodes of reversible hypokalemia and weakness in thyrotoxic patients. It is commonly found in males of Asian descent and is also seen in individuals having Native American or Hispanic ancestry. Therefore genetic etiology has been hypothesized. This study, we aim to find the susceptibility genes that associate with TPP. Both candidate genes approach and genome wide association study have been conducted.
This study is a genetic association study. It included 50 cases of TPP patients and 80 cases of male, hyperthyroid patients who didn't have hypokalemia as a well characterized controls. After informed consent were obtained, genomic DNA from leukocyte were extracted. Pooled DNA were constructed and whole genome scan using 10K GeneChip microarray were genotyped on pooled genomic DNA.
Observational Model: Case Control, Primary Purpose: Screening, Time Perspective: Cross-Sectional, Time Perspective: Retrospective
Thyrotoxic Periodic Paralysis
Published on BioPortfolio: 2014-08-27T03:39:46-0400
OBJECTIVES: I. Assess the efficacy of dichlorphenamide in the treatment of episodic weakness attacks in patients with hyperkalemic periodic paralysis, paramyotonia congenita with periodi...
The purpose of this study is to compare Dichlorphenamide with placebo (an inactive substance) for prevention of episodes and for improvement of strength in periodic paralysis. This study ...
This is a randomised, double-blind, placebo-controlled phase II clinical trial with a cross-over design to investigate the efficacy of bumetanide in patients with hypokalemic periodic para...
Facial nerve paralysis is a disfiguring complication which occurs in 7-10 % of temporal bone fractures. The onset of paralysis may be immediate, delayed or undetermined, the latter of whi...
Currently, physicians have several options in addressing the anatomic and physiologic sequela of facial paralysis. However, strategies to address the psychologic and coping ability for pat...
To identify the genetic basis of a patient with symptoms of normokalemic sporadic periodic paralysis (PP) and to study the effect of mutations.
Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by episodes of skeletal muscle paralysis associated with low serum potassium. Muscle fibre inexcitability during a...
The long exercise test (LET) is used to assess the diagnosis of periodic paralysis (PP), but LET methodology and normal "cut-off" values vary.
An inorganic compound that is used as a source of iodine in thyrotoxic crisis and in the preparation of thyrotoxic patients for thyroidectomy. (From Dorland, 27th ed)
A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)
An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)
A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.
Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...