Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our knowledge of the mechanisms leading to exercise intolerance is constantly expanding. Since the discovery of the glycolysis pathway block caused by phosphorylase deficiency as the cause of McArdle's disease, several other glycolysis blocks have been identified constituting a first group of exercise intolerance syndromes. A second group involves mitochondrial anomalies. More recently diverse exercise intolerance syndromes have been associated with insufficient regulation of calcium flow through the sarcoplasmic reticulum, particularly in sporadic cases of malignant hyperthermia with or without hyperthermia. A discrete form of dystrophinopathy is expressed by exercise-induced myalgia with myoglobinuria. Proximal myotonic myopathy also produces pain at exercise. The specificity of other syndromes such as AMP deaminase deficiency or myopathy with tubular aggregates remains debatable. Our understanding of these different syndromes, and their recognized or yet to be elucidated causes, is of practical significance for developing exploration protocols for patients with exercise intolerance with or without myoglobulinuria.
 ...
PMID:[Muscular intolerance of exercise. Current data]. 983 85

Satoyoshi syndrome is a rare neurological disorder of unknown etiology characterized by progressive muscle spasms, alopecia, diarrhea and skeletal abnormalities. We here describe a 25-year-old man who developed symptoms similar to neuroleptic malignant syndrome (NMS). He began to have the clinical characteristics of Satoyoshi syndrome at the age of 12 years. He was admitted to hospitals many times with painful muscle spasms and pyrexia in the early stage of the disease. He received steroid pulse therapy and oral prednisone at the age of 19, the extent and frequency of the spells being reduced thereafter. He was admitted to our hospital due to recurrence of his usual muscle spasms. He was treated with midazolam intravenously to relieve severe muscle ache, pain in the left shoulder, and insomnia. About 90 minutes later, he became comatose, with the following manifestations: hyperthermia, low blood pressure, tachycardia, profuse perspiration, acute respiratory failure, and ensuing cardiac arrest. He developed rhabdomyolysis, acute renal failure, hepatic damage, and diffuse intravascular coagulation. Serum creatine kinase level was elevated to 306,910 IU. He died of multiple organ failure 13 days after admission. His symptoms resembled NMS and malignant hyperthermia (MH). None of patients with Satoyoshi syndrome accompanied by NMS or MH have been reported. It remains to be clarified whether midazolam administration induces NMS in Satoyoshi syndrome. Nevertheless, careful attention should be paid when one administers midazolam to patients with this syndrome.
 ...
PMID:[A case of Satoyoshi syndrome with symptoms resembling neuroleptic malignant syndrome]. 986 7

Inhalational anaesthesia is the most common anaesthesia technique in paediatric anaesthesia worldwide. Up to now the standard anaesthetic used is halothane. Because halothane is tolerated in the upper airways without side effects it is well suited for the inhalational induction of anaesthesia. However, halothane exerts side effects on the hepatic and the cardiovascular system. This review focuses on the replacement of halothane by sevoflurane in paediatric anaesthesia. Apart from its favorable pharmacological properties sevoflurane is also superior because of economical considerations. The following conclusions are drawn: (1) Halothane and sevoflurane do not cause irritations of the airways and are thus suitable for an inhalational induction. Sevoflurane should be administered in oxygen/nitrous oxide during induction of anaesthesia to reduce excitation. (2) The MAC values of sevoflurane are age dependent. In contrast to adult patients the MAC values of sevoflurane are only decreased by 20 to 25% in paediatric patients. The end-tidal concentration of sevoflurane necessary for intubation or insertion of a laryngeal mask is 2 to 4 Vol.%. (3) The blood/gas partition coefficient of sevoflurane is low, resulting in shorter induction times with sevoflurane compared to halothane. The so called priming technique with 8 Vol.% of sevoflurane results in shorter induction times. Consequently, times to recovery and psycho-motor functions are favourable for sevoflurane compared to halothane in paediatric patients. However, shorter recovery times lead to earlier perception of postoperative pain, requiring adequate pain management. (4) The hemodynamic stability after administration of sevoflurane is favourable to that after halothane in paediatric patients, leading to significantly less bradycardia. (5) In paediatric patients no negative effects on kidney function have been observed after administration of sevoflurane. There is no scientific basis for organotoxic effects, thus sevoflurane is suitable for low-flow and minimal-flow anaesthesia. (6) The duration of the action of muscle relaxants is increased to a greater extent in presence of sevoflurane compared to halothane. Consequently, the total dose of muscle relaxants can be reduced using sevoflurane. (7) Similar to the established inhalational anaesthetics sevoflurane triggers malignant hyperthermia (MH) and must not be used in patients in which MH is suspected or in which a predisposition for MH is known.
 ...
PMID:[Sevoflurane in pediatric anesthesia. Malignant hyperthermia]. 989 80

Over a nine-year period (1990-1998), a total of 196 children with pulmonary and associated hydatid disease, aged 2 to 16 years, undergo treatment in the Department of Pediatric Thoracic Surgery--Emergency Medicine Institute "N. I. Pirogov"--Sofia. One hundred thirty children (62.1%) present isolated, and sixty-six (38.8%)--associated hydatid disease, of which with localization in the liver (63 cases), brain (1), kidney (1) and spleen (1). The pulmonary cysts are located in the left lung in 96 cases (48.9%), right lung--79 (40.3%) and bilateral involvement--21 (10.8%). In 74 children the disease runs an asymptomatic course, in 128 (65.3%)--with fever and cough, and in 65 (33.1%)--with thoracic pain. On admission 183 children (94.4%) are in a satisfactory and good general condition; 13 with complications in the cyst and pleural cavity are in a serious general condition accompanied by respiratory failure. In 129 children diagnosis is made on the ground of x-ray study, in 40 CAT study is additionally performed, and in 24--ultrasonography. Of 22 children with bilateral pulmonary location, 13 (59.9%) undergo operation in two stages, and nine (40.1%)--in one stage, with bilateral thoracotomy done in seven, and sternotomy in two instances. Intraoperatively more than one echinococcus cysts are discovered in 23 cases (11.7%). In 105 children (53.5%) echinococcotomy is performed, in 67 (34.2%)--atypical resection, in 8 (4.1%)--lobectomy, in 15 (7.6%)--segmentectomy and in one--pneumonectomy. In the early postoperative period, one child develops hemothorax from a bleeding intercostal artery, and another one--pneumothorax from unsutured bronchus in the cyst bed necessitating emergency re-thoracotomy. The outcome is fatal in one patient with malignant hyperthermia, and the remainder are discharged clinically cured.
 ...
PMID:[The surgical treatment of pulmonary and associated echinococcosis in childhood]. 1083 13

A review is given about the clinical symptoms, pathogenesis and aetiology of the porcine stress syndrome, furthermore aspects of animal welfare are discussed. The current breeding programmes of pig industry in Germany in many cases include animals with a mutation of the ryanodine-receptor (RYR-1)-gene--homozygous or heterozygous. This situation is the result of an intensive breeding of pigs during the last decades with the intention of increased lean carcass content and corresponding proceeds. The homozygous pigs are more stress susceptible (porcine stress syndrome) and produce meat of poor quality (PSE), which is also the case to some extend in heterozygous animals. The clinical symptoms of this muscle disease are characterised by a deficit of oxygen and a rapid glycolysis accompanied by a production of lactic acid and acidosis primarily in II B white muscle fibres. There is no doubt that a very close causal relation exists between the mutation of the RYR-1 and the porcine stress syndrome as well as the poor meat quality. The present knowledge of this disease, the genetic background, the physiology and pathophysiology of the mutation of the RYR-1 leads to the imperative conclusion to eliminate this mutated RYR-1 by selection of healthy pigs, which has been done successfully in other countries with important pig production. This conclusion is also supported by simple economic reasons because fertility, reproduction and daily weight gain are significantly reduced in stress susceptible pigs. Furthermore, it should be emphasised that regular breeding with the mutated RYR-1 is also a matter of animal welfare. The evident correlation between the mutated RYR-1 and the porcine stress syndrome, which includes degeneration of the muscle, pain and even life threatening malignant hyperthermia, can easily lead to the accusation in the public that diseased animals are used for pig meat production. Consequently, the authors would like to urge the breeding companies and the responsible authorities to discuss the problem with the intention to finish the current breeding programmes using animals with the mutated RYR-1 within a reasonable period of time.
 ...
PMID:[Porcine stress syndrome and PSE meat: clinical symptoms, pathogenesis, etiology and animal rights aspects]. 1084 11

Fluoroquinolones cause myalgia, but this complication is not clearly documented. We describe a patient who developed myalgia and rhabdomyolysis during fluoroquinolone treatment. The patient was a 33-year-old man treated with norfloxacin for common cystitis. He complained of general muscular fatigue, tendon disorders, and articular pain during treatment. When the antimicrobial agent was stopped, symptoms decreased, with persistence of slight myalgia for 10 days. Rhabdomyolysis was detected. Six months later, investigation by 31P magnetic resonance spectroscopy revealed an oxidative disorder and an abnormal abundance of phosphomonoesters. In vitro contracture tests led to a diagnosis of malignant hyperthermia susceptibility. Our case shows that for any subject presenting myalgia with rhabdomyolysis triggered by fluoroquinolone treatment, the presence of a latent myopathy should be investigated.
 ...
PMID:Malignant hyperthermia susceptibility revealed by myalgia and rhabdomyolysis during fluoroquinolone treatment. 1140 39

THE ROLE OF IONIC CHANNEL DYSFUNCTION: During various neurological diseases has been evoked for many years on electro-physiological data. Molecular biology has led to great progress in neurology, and can be considered "functional" since it is surpasses the classical anatomo-clinical methods. IONIC CHANNEL DYSFUNCTION: Can be determined genetically, resulting from the mutation of a gene code of a channel sub-unit. CHANNELOPATHIES ARE RESPONSIBLE: For muscular diseases (myotonia, familial periodic paralysis, malignant hyperthermia and congenital myasthenia), but also for central nervous system disorders such as familial hemiplegic migraine, hereditary paroxystic ataxia and certain forms of Mendel's law hereditary epilepsy. ACQUIRED IONIC CHANNEL DYSFUNCTION: Resulting from auto-immune aggression is implied in diseases such as Lambert-Eaton's myasthenic syndrome and Isaac's neuromyotonia syndrome. It probably plays a part in the clinical, and particularly the sensitive expression (paresthesia and pain) of some peripheral neuropathies and certain central nervous system affections, such as multiple sclerosis.
 ...
PMID:[Ion channel abnormalities ("channelopathies") in neurologic diseases]. 1188 65

A relatively high incidence of malignant hyperthermia (MH) and an unpredicted (usually increased) sensitivity to muscle relaxants are reported in patients with congenital myopathies (CM). We present a case of anesthetic management of a patient with a clinical diagnosis of CM. An 18-month-old, 11.3-kg, male patient, who had received a diagnosis of CM, was scheduled for the laparoscopic cryptorchidpexy. Anesthesia was induced with propofol and fentanyl, and the trachea was intubated without muscle relaxants. An epidural catheter was inserted via the sacral hiatus, the tip of which was located at the second lumbar level for a purpose of obtaining not only pain relief but also muscle relaxation. Anesthesia was maintained with propofol, nitrous oxide and fentanyl, combined with epidural anesthesia. The anesthetic course was uneventful with enough pain relief and good muscle relaxation.
 ...
PMID:[Anesthesia for laparoscopic cryptorchidpexy in a patient with congenital myopathy]. 1459 79

The management of a patient with two undiagnosed neuroendocrine tumors and possible malignant hyperthermia (MH) susceptibility poses a unique challenge to the anesthesiologist. We describe a total intravenous anesthetic including an alpha 2-agonist infusion combined with epidurally administered bupivacaine for intra- and postoperative pain management. Alpha 2-agonists may offer improved intraoperative hemodynamic management in patients with catecholamine-secreting tumors and reduce the total dose needed for intravenous anesthetics such as propofol. The latter mechanism may be useful to avert the risk of the propofol infusion syndrome occurring as a consequence of a high cumulative dose following its prolonged administration.
 ...
PMID:Undiagnosed catecholamine-secreting paraganglioma and coexisting carcinoid in a patient with MH susceptibility: an unusual anesthetic challenge. 1728 21

Ryanodine receptors (RyRs) are high conductance intracellular cation channels that release calcium ions from stores such as the endoplasmic reticulum and sarcoplasmic reticulum. Although RyRs are expressed in many cell types, their roles have only been extensively characterised in tissues in which they are abundant: RyR1 is essential for excitation-contraction coupling in skeletal muscle; whereas RyR2 is required for the analogous signal transduction pathway in heart. Defects in RyR1 cause malignant hyperthermia and a spectrum of myopathies in skeletal muscle; whereas RyR2 dysregulation can result in fatal cardiac arrhythmias and is involved in heart failure. Altered RyR gating has been implicated in a range of other diseases, including epilepsy, neurodegeneration, pain and cancer. RyRs interact with a range of toxic substances, providing insights into their functional and structural properties. Consequently, these channel complexes represent potential therapeutic targets for treatment of numerous diseases. Furthermore, strategies for combating multicellular parasites and agricultural pests could exploit pharmacological differences between their RyRs and those of vertebrates. However, available pharmacological tools for manipulation of RyR gating are generally unsuitable for clinical, veterinary or agricultural use, owing to their lack of selectivity, inappropriate solubility in the aqueous or lipid environment, or generation of side-effects. The expression, subcellular distribution and gating of RyRs is modified by a wide variety of cellular proteins, some of which are expressed in a developmentally or tissue-restricted manner. This commentary examines the possibility of manipulating the expression and function of such proteins in order develop new drugs acting on RyR channel complexes.
 ...
PMID:Ryanodine receptor calcium channels and their partners as drug targets. 2009 79


<< Previous 1 2 3 Next >>