Temat: malignant hyperthermia - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryrl gene
Autorzy:: Gronek, P
Slomski, R.
Lisiecka, D.
Plawski, A.
Nuc, K.
Banasiewicz, T.
Powiązania:: https://bibliotekanauki.pl/articles/2044249.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: homology
Equus grevyi
Sus scrofa
ryanodine receptor
chromosome
polymorphism
gene
porcine gene
man
mutation
polymerase chain reaction
DNA
malignant hyperthermia
skeletal muscle
Opis:: The RYR1 gene encoding the Ca²⁺ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryrl) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 ¹⁸³⁴GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁹ human RYR1 ¹⁸³¹GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁶ zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.
Źródło:: Journal of Applied Genetics; 1998, 39, 3; 275-279
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: Molecular basis of malignant hyperthermia
Autorzy:: Gronek, P
Slomski, R
Powiązania:: https://bibliotekanauki.pl/articles/2046685.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: calcium release
ryanodine receptor
depolarization
polymorphism
ryanodine gene
chromosome
metabolism
man
clinical syndrome
central core disease
phenotypic effect
malignant hyperthermia
anesthesia
skeletal muscle
Opis:: Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two arc alternatively spliced.
Źródło:: Journal of Applied Genetics; 1997, 38, 3; 309-317
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: Life-threatening conditions in psychiatry - neuroleptic malignant syndrome (NMS)
Autorzy:: Kucmin, T.
Kucmin, A.
Plowas-Goral, M.
Jojczuk, M.
Powiązania:: https://bibliotekanauki.pl/articles/3658.pdf
Data publikacji:: 2015
Wydawca:: Instytut Medycyny Wsi
Tematy:: life-threatening condition
psychiatry
neuroleptic malignant syndrome
muscle rigidity
hyperthermia
treatment
Opis:: The introduction of neuroleptics in the 1950’s was a turning point in psychiatric treatment. The new drugs brought hope to millions of patients and their doctors. However, there were also some side-effects, one of which is Neuroleptic malignant syndrome (NMS), a rare complication of antipsychotic treatment and untreated it may lead to mortality as high as 20%. The incidence of NMS, estimated to be 0.01–0.02%, has decreased significantly probably due to higher awareness of the diseases and shift to atypical antipsychotics. The aim of this study was to present the signs and symptoms of this rare condition and describe management possibilities since this condition is observed not only in psychiatric departments but also in emergency rooms. NMS is thought to be related to change caused by neuroleptics within the central nervous system due to dopamine D2 receptor antagonism, especially nigrostriatal pathways and the hypothalamus. There are three symptoms which are considered as major and indicate a high probability of NMS: muscle rigidity, hyperthermia (core body temperature above 38.5 °C), and elevated creatine phosphokinase concentration (above 1000 U/l). NMS is a diagnosis of exclusion and clinicians must be vigilant in detecting early signs of NMS. The basic management in NMS is antipsychotic discontinuation and proper supportive care of the patient (vital signs monitoring, hydration, correction of electrolyte and acid-base disturbances). In more severe cases, the introduction of bromocriptine or dantrolene, as well as benzodiazepines, may indicated. Further usage of neuroleptic in patients with a history of NMS should be with care, and low doses of low-potency neuroleptics or atypical neuroleptics seem to be the best treatment choice.
Źródło:: Journal of Pre-Clinical and Clinical Research; 2015, 09, 1
1898-2395
Pojawia się w:: Journal of Pre-Clinical and Clinical Research
Dostawca treści:: Biblioteka Nauki

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