mitochondrial myopathies/horúčka

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Don't stress: a case report of regional anesthesia as the primary anesthetic for gynecologic surgery in a patient with mitochondrial myopathy and possible malignant hyperthermia susceptibility.

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We aim to describe the evaluation and management of a patient with the uncommon combination of both mitochondrial myopathy and possible malignant hyperthermia susceptibility as an important source of information and as a valuable example of the role of regional anesthesia for patients

Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency.

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[General anesthesia in two patients with mitochondrial myopathy].

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Two patients with mitochondrial myopathy (Kearns-Sayre syndrome) received general anaesthesia. In the first case propofol-alfentanil anaesthesia was carried out; the second patient received propofol-fentanyl anaesthesia. Muscle relaxation was provided with vecuronium. In both cases we observed a

Mitochondrial myopathies: an unusual cause of hypotonia in infants and children.

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Children frequently undergo muscle biopsy for the workup of hypotonia under general anaesthesia which poses unique risks in patients with undiagnosed muscle disease. Mitochondrial myopathies are a relatively newly recognized cause of myopathy and multisystem disease in both adults and children. The

Pathological findings in 165 patients explored for malignant hyperthermia susceptibility.

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The pathological findings in 165 patients explored for malignant hyperthermia (MH) susceptibility are reported. The first group of 120 subjects were patients investigated for MH. These patients had suffered an attack of MH under anaesthetic or were members of families in which a subject had died of

[Chronic rhabdomyolysis disclosing mitochondriopathy and malignant hyperthermia susceptibility].

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We report the case of a 24-year old man with a recent history of unexplained chronic rhabdomyolysis. The muscle biopsy showed a mitochondrial myopathy associated with a malignant hyperthermia susceptibility. These two abnormalities can be implied in the recurrent rhabdomyolytic phenomenon, with a

[Pulmonary thromboembolism as a late complication of mitochondrial myopathy (Kearns-Sayer syndrome ].

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A case of pulmonary thromboembolism with transient pulmonary hypertension of a rare cause is presented. In 24-year-old woman myasthenia was recognised on the ground of ptosis and fixation of eyes muscles from the 14th year of age. The treatment with mestinon was ineffective. Before planned

Anaesthetic management of labour and delivery in the parturient with mitochondrial myopathy.

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OBJECTIVE We describe the anaesthetic management for Caesarean section in a parturient with a defect in complex III of the respiratory chain who had increased lactate concentrations at rest and with exercise. METHODS We administered effective epidural anaesthesia with lidocaine for Caesarean

[Mitochondrial myopathies].

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The organ most frequently affected in mitochondrial disorders is the skeletal muscle (mitochondrial myopathy). Mitochondrial myopathies may be part of syndromic as well as non-syndromic mitochondrial disorders. Involvement of the skeletal muscle may remain subclinical, may manifest as isolated

Spinal anesthesia in MELAS syndrome: a case with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.

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MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is one of the classic mitochondrial encephalomyopathies with variable clinical presentation and multisystem involvement. Enhanced sensitivity to neuromuscular blockade or anesthetic agents and

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

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BACKGROUND Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS We present a

Use of Methohexital and Dexmedetomidine for Maintenance of Anesthesia in a Patient With Mitochondrial Myopathy: A Case Report.

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Provision of anesthesia for patients with mitochondrial disorders is associated with a unique set of challenges. These disorders are rare, which complicates efforts to develop high quality, evidence-based guidelines to inform the perioperative management of those who suffer from them. Accordingly,

[Anesthesia and intensive therapy for a patient with mitochondrial myopathy].

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Since 1983 we have been involved in the diagnostic work-up and emergency treatment of a female patient now 48 years old who has a mitochondrial myopathy resembling Luft's disease. The syndrome was first described in 1959, and in more detail in 1962, by Luft and et al., who reported a picture of

Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presenting as acute meningoencephalitis: a case report.

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BACKGROUND Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder with a wide range of multisystemic symptoms. Epileptic seizures are common features of both MELAS and meningoencephalitis and are typically treated with

Anesthesia for a child with complex I respiratory chain enzyme deficiency.

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The mitochondrial myopathies are a rare group of conditions affecting the respiratory chain and oxidative phosphorylation. The anesthetic management of a 6-year-old girl with complex I respiratory chain deficiency requiring surgery for a fractured hip is presented and discussed. Potential problems

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