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Halaman 1 dari 76 hasil
[Exercise-induced malignant hyperthermia in a patient with familial ichthyosis vulgaris. Muscular carnitine deficiency as contributing factor (author's transl)].
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A young soldier with familial ichthyosis vulgaris developed malignant hyperthermia after an intensive exercise. Ichythyosis was considered as a predisposing factor, but the finding of a low muscular carnitine level raises the problem of a relationship between exercised-induced malignant hyperthermia
Carnitine palmitoyl transferase deficiency in malignant hyperthermia.
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The activity of carnitine palmitoyl transferase, an enzyme that catalyzes the transport of long-chain acylcarnitines into mitochondria, was quantitated in EB-virus-transformed lymphoblasts from 7 patients with susceptibility for malignant hyperthermia. Immunoreactive enzyme protein was also measured
Screening of Free Carnitine and Acylcarnitine Status in Children With Familial Mediterranean Fever.
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UNASSIGNED
This study aims to demonstrate the patterns of free carnitine (FC) and acylcarnitine (AC) esters in familial Mediterranean fever (FMF) patients.
UNASSIGNED
A total of 205 patients (106 males, 99 females; mean age 131.3±52.1 months; range 24 to 254 months) with FMF and 50 healthy controls
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals.
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Malignant hyperthermia is a rare, potentially life threatening pharmacogenetic disorder triggered by volatile anaesthetics and depolarizing muscle relaxants. The clinical picture comprises rhabdomyolysis, metabolic and respiratory acidosis, and hyperthermia. Carnitine palmitoyltransferase II
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.
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We describe a child who developed a malignant hyperthermia-like syndrome after exposure to succinylcholine and halothane. Many features of a typical malignant hyperthermia episode were present, including tachydysrhythmia, tachypnea, and fever in association with metabolic acidosis, hyperCKemia,
Endogenous genetic risk factor for serious heatstroke: the thermolabile phenotype of carnitine palmitoyltransferase II variant.
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Aim
In serious heatstroke, elevated body temperature (>40°C) is considered the main cause of illness. Mitochondrial carnitine palmitoyltransferase II (CPT II) plays an important role in adenosine triphosphate (ATP) generation from long-chain fatty acids, and its thermolabileRecurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells.
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Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most frequent cause of hereditary myoglobinuria. We report the case of a young man who presented a severe fever-induced episode of rhabdomyolysis and myoglobinuria resulting in acute renal failure.
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
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We report a patient with severe infantile carnitine palmitoyltransferase II (CPT II) deficiency who died at the age of 3 months. Genetic analysis of the CPT2 gene revealed that the patient was homozygous, and her parents were heterozygous, for a R503C missense mutation. Heterozygosity for R503C,
[Effects of L-carnitine on serum levels of brain natriuretic peptide and N-terminal pro-brain natriuretic peptide and cardiac function in children with severe hand-foot-mouth disease].
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OBJECTIVE
To observe the effects of L-carnitine treatment on serum levels of brain natriuretic peptide (BNP) and N-terminal pro-BNP (NT-proBNP) and cardiac function in children with heart dysfunction and severe hand-foot-mouth disease (HFMD).
METHODS
A total of 120 children with severe HFMD were
Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency.
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A 7 1/2-yr-old girl suffered, since early infancy, severe recurrent myalgia during periodic attacks of fever, vomiting and pharyngitis. Neither myoglobinuria nor exercise-induced muscle pain was present. She was found to have carnitine palmitoyltransferase deficiency (CPTD) in leukocytes,
[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].
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This study aimed to identify the type of carnitine palmitoyltransferase 2 (CPT2) gene mutation in the child with carnitine palmitoyltransferase II (CPT II) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.
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Carnitine palmitoyltransferase-II (CPT-II) deficiency can be detected through newborn screening with tandem mass spectrometry. We report a 4-year-old patient with rhabdomyolysis due to CPT-II deficiency, which was initially missed by newborn screening. The patient presented with a 2-day history of
[An unusual case of cardiomyopathy showing carnitine palmitoyltransferase deficiency]
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Carnitine palmitoyltransferase deficiencies (CPD) are rare and caused by a defect in fatty acid oxidation. We here report the case of a 10-year-old patient with no particular previous history presenting with acute dyspnea associated with productive cough, fever and impaired general condition. The
[Incidence of disposition for malignant hyperthermia in patients with neuromuscular diseases].
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OBJECTIVE
It has been suggested that malignant hyperthermia (MH) occurs more frequent in patients with neuromuscular diseases (NMD) than in patients without NMD when they are exposed to volatile anaesthetics and/or succinylcholine. However, whereas central core disease (CCD) and MH susceptibility
Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
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To assess the etiology of influenza-associated encephalopathy (IAE), a surveillance effort was conducted during 2000-2003 in South-West Japan. All fatal and handicapped patients except one (4/34 patients) exhibited a disorder of mitochondrial beta-oxidation evoked by the inactivated carnitine
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