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1.
Clin Sci (Lond) ; 125(4): 191-8, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23438238

RESUMO

Variation in genes encoding the ß(2)-adrenergic receptor (ADRB2) and angiotensin-converting enzyme (ACE) may influence Q (cardiac output). The 46G>A (G16R) SNP (single nucleotide polymorphism) has been associated with ß(2)-mediated vasodilation, but the effect of ADRB2 haplotypes on Q has not been studied. Five SNPs within ADRB2 (46G>A, 79C>G, 491C>T, 523C>A and 1053G>C by a pairwise tagging principle) and the I/D (insertion/deletion) polymorphism in ACE were genotyped in 143 subjects. Cardiovascular variables were evaluated by the Model flow method at rest and during incremental cycling exercise. Only the G16R polymorphism was associated with Q. In carriers of the Arg(16) allele, Q(rest) (resting Q) was 0.4 [95% CI (confidence interval), 0.0-0.7] l/min lower than in G16G homozygotes (P=0.048). During exercise, the increase in Q was by 4.7 (95% CI, 4.3-5.2) l/min per litre increase in pulmonary Vo(2) (oxygen uptake) in G16G subjects, but the increase was 0.5 (0.0-0.9) l/min lower in Arg16 carriers (P=0.035). A similar effect size was observed for the Arg16 haplotypes ACCCG and ACCCC. No interaction was found between ADRB2 and ACE polymorphisms. During exercise, the increase in Q was 0.5 (CI, 0.0 -1.0) l/min greater in ACE I/I carriers compared with I/D and D/D subjects (P=0.054). In conclusion, the ADRB2 Arg16 allele in humans is associated with a lower Q both at rest and during exercise, overriding the effects of haplotypes.


Assuntos
Débito Cardíaco/genética , Polimorfismo de Nucleotídeo Único , Receptores Adrenérgicos beta 2/genética , Teste de Esforço , Genótipo , Haplótipos , Humanos , Mutação INDEL
2.
Ugeskr Laeger ; 184(10)2022 03 07.
Artigo em Dinamarquês | MEDLINE | ID: mdl-35315754

RESUMO

Lyme neuroborreliosis (LNB) caused by the spirochete bacteria Borrelia burgdorferi sensu lato complex is the most common bacterial neuroinfection in Denmark (180 cases per year). One of the main challenges to LNB is the diagnosis due to its variant manifestations often involving the skin, musculosceletal or nervous system affecting patient morbidity. Recent data shows a diagnostic delay of 21 days in laboratory-confirmed patients in Denmark. The aim of this review is to summarise current state of knowledge concerning clinical manifestations, diagnostic assessment, antibiotic therapy, and prognosis.


Assuntos
Borrelia burgdorferi , Neuroborreliose de Lyme , Adulto , Antibacterianos/uso terapêutico , Diagnóstico Tardio , Humanos , Neuroborreliose de Lyme/diagnóstico , Neuroborreliose de Lyme/tratamento farmacológico
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