Volatile anesthesia for a child with LPIN1 gene mutation and recurrent rhabdomyolysis

Pediatric Anesthesia, EarlyView.
Source: Pediatric Anesthesia - Category: Anesthesiology Authors: Source Type: research

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Abstract Malignant hyperthermia (MH) is a rare, heterogenic syndrome leading to potentially life-threatening skeletal muscle hypermetabolism following exposure to inhalational anesthetics and succinylcholine. In more than 50% of affected individuals a pathogenic variant in the RYR1 gene coding for the sarcoplasmic reticulum calcium channel is responsible for the underlying pathology of uncontrolled calcium liberation. While the genetic prevalence of MH is as high as 1 : 2750, the incidence of clinical MH reactions is considerably lower, suggesting a dominant pattern of inheritance with incomplete penetrance. D...
Source: Anasthesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS - Category: Intensive Care Authors: Tags: Anasthesiol Intensivmed Notfallmed Schmerzther Source Type: research
Malignant hyperthermia (MH) is classically described as an autosomal dominant myopathy involving type 1 ryanodine receptor (RYR1), which predisposes affected individuals to potentially life-threatening sequela when exposed to volatile anesthetics or depolarizing skeletal muscle relaxants, such as succinylcholine. In cases where malignant hyperthermia or anesthetic induced rhabdomyolysis (AIR) is triggered, significant morbidity and often mortality can result. In an ambulatory anesthetic setting, family history of malignant hyperthermia and history of anesthetic-related events is typically utilized to screen out susceptible individuals.
Source: Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Source Type: research
Limb-girdle muscular dystrophies (LGMDs) belong to few neuromuscular disorders mainly involving pelvic and shoulder girdle muscles. Also, cardiac or pulmonary complications, increased rhabdomyolysis risk when ...
Source: BMC Anesthesiology - Category: Anesthesiology Authors: Tags: Case report Source Type: research
No abstract available
Source: European Journal of Anaesthesiology - Category: Anesthesiology Tags: Correspondence Source Type: research
No abstract available
Source: European Journal of Anaesthesiology - Category: Anesthesiology Tags: Correspondence Source Type: research
This report describes the consensus process and the outcomes for each of the foregoing unanswered clinical questions. PMID: 30768455 [PubMed - as supplied by publisher]
Source: Anesthesia and Analgesia - Category: Anesthesiology Authors: Tags: Anesth Analg Source Type: research
Publication date: Available online 5 February 2019Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Anne-Marie Leo, Mark J. McVey, Megumi Iizuka, Michael D. Richards
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
Mutations in RYR1, the gene encoding the sarcoplasmic reticulum (SR) type 1 ryanodine receptor (RyR1), have emerged as the most common genetic cause of non-dystrophic neuromuscular disorders in recent years.[1] RYR1 mutations give rise to a wide variety of myopathies presenting throughout life [2], ranging from early-onset congenital myopathies (for review, Jungbluth et al. [3]) to episodic manifestations in adulthood such as exertional rhabdomyolysis (RM), malignant hyperthermia during anesthesia with susceptibility proven by an in vitro contracture test (MH) and periodic paralysis [4] in otherwise healthy individuals.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Abstract An 8-year-old, spayed female Chihuahua mixed breed dog was presented for dyspnea and was subsequently mechanically ventilated. Propofol was utilized as part of the anesthetic protocol. The dog developed rhabdomyolysis, myoglobinuria, cardiac arrhythmias, liver enzyme elevation, and methemoglobinemia. Propofol was discontinued and N-acetylcysteine was administered after which the clinical signs resolved. PMID: 30410181 [PubMed - in process]
Source: The Canadian Veterinary Journal - Category: Veterinary Research Authors: Tags: Can Vet J Source Type: research
Publication date: Available online 25 September 2018Source: Egyptian Journal of AnaesthesiaAuthor(s): Bo-Ra Kim, Young-Bok Lee, Su-Jin Kim, Young-Wan KimAbstractAmyotrophic lateral sclerosis, which is also known as motor neuron disease, is a chronic neurodegenerative disease characterized by progressive muscular weakness, respiratory muscle disability, and eventual death. Previous epidemiologic studies have shown no association between cancer and amyotrophic lateral sclerosis. Colorectal cancer arising in patients with amyotrophic lateral sclerosis has rarely been reported. Here, we report a case involving rectal cancer ar...
Source: Egyptian Journal of Anaesthesia - Category: Anesthesiology Source Type: research
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