WordNet

any compound containing a chlorine atom
any salt of hydrochloric acid (containing the chloride ion)

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塩化物

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1. バーター症候群およびギテルマン症候群 bartter and gitelman syndromes
2. 代謝性アルカローシスの臨床症状および評価 clinical manifestations and evaluation of metabolic alkalosis
3. 嚢胞性線維症：臨床症状および診断 cystic fibrosis clinical manifestations and diagnosis
4. 代謝性アルカローシスの病因 pathogenesis of metabolic alkalosis
5. 赤血球水分量の制御 control of red blood cell hydration

English Journal

Asymptomatic myotonia congenita unmasked by severe hypothyroidism.

Passeri E1, Sansone VA2, Verdelli C3, Mendola M1, Corbetta S4.Author information 1Endocrinology and Diabetology Unit, Dept. Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato M.se, Milan, Italy.2NEuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, Dept. Biomedical Sciences for Health, University of Milan, Milan, Italy.3Molecular Biology Laboratory, IRCCS Policlinico San Donato, San Donato M.se, Milan, Italy.4Endocrinology and Diabetology Unit, Dept. Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato M.se, Milan, Italy. Electronic address: sabrina.corbetta@unimi.it.AbstractMyotonia congenita is an inherited muscle disorder sustained by mutations in the skeletal muscle chloride channel gene CLCN1. Symptoms vary from mild to severe and generalized myotonia and worsen with cold, stressful events and hormonal fluctuations. Here we report the case of a young woman who sought medical attention because of subacute onset of diffuse and severe limb myotonia. CLCN1 gene sequencing showed a heterozygous transversion (T550M), two polymorphisms and one silent mutation. Thyroid function screening revealed severe hypothyroidism. She was placed on l-thyroxine replacement therapy which dramatically improved myotonia. We conclude that hypothyroidism unmasked a genetically determined, clinically asymptomatic chloride channelopathy. Diagnostic work-up in patients with clinically isolated myotonia should not be limited to genetic screening of non-dystrophic or dystrophic myotonias. Considering the high prevalence of hypothyroidism in females, systematic thyroid function screening by looking for additional hypothyroid symptoms and serum TSH levels measurement is mandatory in these patients.
Neuromuscular disorders : NMD.Neuromuscul Disord.2014 Apr;24(4):365-7. doi: 10.1016/j.nmd.2014.01.006. Epub 2014 Jan 24.
Myotonia congenita is an inherited muscle disorder sustained by mutations in the skeletal muscle chloride channel gene CLCN1. Symptoms vary from mild to severe and generalized myotonia and worsen with cold, stressful events and hormonal fluctuations. Here we report the case of a young woman who soug
PMID 24530047

Nondystrophic myotonia: challenges and future directions.

Trivedi JR1, Cannon SC2, Griggs RC3.Author information 1Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: jaya.trivedi@utsouthwestern.edu.2Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA.3Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.AbstractNon-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Common symptoms include muscle stiffness, transitory weakness, fatigue, and pain. Although seldom life-shortening, these myotonias cause life-time disability and affected individuals cannot perform many daily activities. A notable feature of the recessive form of chloride channelopathies is the presence of transient weakness. While there has been considerable progress in skeletal muscle channelopathies with regards to identifying biophysical abnormalities, the mechanism of transient weakness remains unclear. A recent study published in Experimental Neurology (Desaphy et al., 2013) explored this question further by comparing the biophysical properties of 3 chloride channel mutations associated with recessive myotonia congenita, with varying susceptibility to transient weakness. The authors identified a variety of functional defects in channel behavior among the 3 mutations, suggesting that this variability contributes to the differing phenotypes among chloride channelopathies. This commentary discusses nondystrophic myotonias, the results of Desaphy et al., and the treatment challenges in this rare disease.
Experimental neurology.Exp Neurol.2014 Mar;253:28-30. doi: 10.1016/j.expneurol.2013.12.005. Epub 2013 Dec 18.
Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Common symptoms include muscle stiffness, transitory weakness, fatigue, and pain. Although seldom life-shortening, these myotonias
PMID 24361411

Ion channels, channelopathies, and tooth formation.

Duan X.Author information Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an, 710032, P.R. China.AbstractThe biological functions of ion channels in tooth development vary according to the nature of their gating, the species of ions passing through those gates, the number of gates, localization of channels, tissue expressing the channel, and interactions between cells and microenvironment. Ion channels feature unique and specific ion flux in ameloblasts, odontoblasts, and other tooth-specific cell lineages. Both enamel and dentin have active chemical systems orchestrating a variety of ion exchanges and demineralization and remineralization processes in a stage-dependent manner. An important role for ion channels is to regulate and maintain the calcium and pH homeostasis that are critical for proper enamel and dentin biomineralization. Specific functions of chloride channels, TRPVs, calcium channels, potassium channels, and solute carrier superfamily members in tooth formation have been gradually clarified in recent years. Mutations in these ion channels or transporters often result in disastrous changes in tooth development. The channelopathies of tooth include altered eruption (CLCN7, KCNJ2, TRPV3), root dysplasia (CLCN7, KCNJ2), amelogenesis imperfecta (KCNJ1, CFTR, AE2, CACNA1C, GJA1), dentin dysplasia (CLCN5), small teeth (CACNA1C, GJA1), tooth agenesis (CLCN7), and other impairments. The mechanisms leading to tooth channelopathies are primarily related to pH regulation, calcium homeostasis, or other alterations of the niche for tooth eruption and development.
Journal of dental research.J Dent Res.2014 Feb;93(2):117-25. doi: 10.1177/0022034513507066. Epub 2013 Sep 27.
The biological functions of ion channels in tooth development vary according to the nature of their gating, the species of ions passing through those gates, the number of gates, localization of channels, tissue expressing the channel, and interactions between cells and microenvironment. Ion channels
PMID 24076519