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Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia.

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BACKGROUND Mutations in the skeletal muscle ryanodine receptor gene may result in altered calcium release from sarcoplasmic reticulum stores, giving rise to malignant hyperthermia (MH). MH is a pharmacogenetic skeletal muscle disorder triggered by volatile anesthetics and depolarizing muscle

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.

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A point mutation in the human gene for the skeletal muscle calcium release channel (ryanodine receptor [RYR1]) correlates with inheritance of malignant hyperthermia in a family of Northern European descent. The substitution of thymine for cytosine at position 1840 of the RYR1 transcript results in a

Novel ryanodine receptor mutation that may cause malignant hyperthermia.

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BACKGROUND Malignant hyperthermia (MH) is a hypermetabolic condition caused by a genetic disposition leading to increased Ca release from the sarcoplasmic reticulum after exposure to triggering agents. In the authors' ongoing evaluation of patients undergoing MH testing in Austria, they detected a

[Incompatibility of olanzapine and amisulpride in multisystemic myotonic myopathy].

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There is evidence for the occurrence of psychopathological symptoms in the adult form of myotonic dystrophy such as disturbance of concentration and memory, chronic depression, disturbed social behaviour, mental retardation, and hypersomnia. In this report we present a patient suffering from

Genetic characterization of the wboA gene from the predominant biovars of Brucella isolates in Iran.

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BACKGROUND Brucella spp. are gram-negative, facultative intracellular bacteria pathogens responsible for brucellosis, a zoonotic disease that can cause abortion, fetal death, and genital infections in animals and undulant fever in humans. Lipopolysaccharide (LPS) is known as a major virulence factor

New HSV-1 Anti-Viral 1'-Homocarbocyclic Nucleoside Analogs with an Optically Active Substituted Bicyclo[2.2.1]Heptane Fragment as a Glycoside Moiety.

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New 1'-homocarbanucleoside analogs with an optically active substituted bicyclo[2.2.1]heptane skeleton as sugar moiety were synthesized. The pyrimidine analogs with uracil, 5-fluorouracil, thymine and cytosine and key intermediate with 6-chloropurine (5) as nucleobases were synthesized by a

The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.

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Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic

[Raltitrexed-induced skin reaction].

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BACKGROUND Raltitrexed (Tomudex(R)) is a thymine synthetase inhibitor used for first line treatment of metastatic colorectal cancer. Skin reactions were reported in the preclinical trials but have never been documented in clinical practice. We report the first two cases. METHODS Two patients, aged

Heat-induced cell death and radiosensitization: molecular mechanisms.

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Although several lines of evidence suggest that the cellular membrane plays a role in heat-induced cell death, a basic question remains unanswered. Namely, how does membrane damage lead to reproductive death which is traditionally thought to reflect DNA damage? Recent results suggest that membrane

[Radiosensitization research in cancer therapy].

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Radiosensitization using Synkavit was first reported by Mitchell in 1953. Recently, renewed interest in radiosensitization has been shown by tumor radiobiologists since electron-affinitive hypoxic cell sensitizers were introduced Adams and his colleagues in 1973. Conferences on chemical modifiers

Genetic toxicology of bleomycin.

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Bleomycin (BLM), an antibiotic obtained from Streptomyces verticillus, is of significance as an antineoplastic agent. The compound is actually the mixture of some 200 related forms which differ from each other in the amine moiety. The drug, at low concentrations, can cause elimination of bases,

UGT1A1*28 polymorphism predicts irinotecan-induced severe toxicities without affecting treatment outcome and survival in patients with metastatic colorectal carcinoma.

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BACKGROUND It is known that the uridine-diphosphoglucuronosyl transferase 1A1 (UGT1A1)*28 polymorphism reduces UGT1A1 enzyme activity, which may lead to severe toxicities in patients who receive irinotecan. This study was conducted to assess the influence of this polymorphism on the efficacy and

Sequential administration of thymidine, 5-fluorouracil, and PALA. A phase I-II study.

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Twenty-seven patients with colorectal adenocarcinoma, (12) non-small cell bronchogenic carcinoma, (11) gastric adenocarcinoma (3), and adenocarcinoma of unknown primary lesion (1) were treated with the combination of thymidine (TdR), 5-fluorouracil (FU), and N-phosphonacetyl-L-aspartic acid (PALA).

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