RESUMO
Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood samples from the myotonic dog, as well as from his male littermate and parents, were analyzed via amplification of the 23 exons encoding CLCN1. After sequencing the CLCN1 gene, a complex variant was found in exon 6 c.[705T>G; 708del; 712_732del], resulting in a premature stop codon in exon 7 and a protein that was 717 amino acids shorter than the normal CLC protein. The myotonic dog was identified as homozygous recessive for the complex CLCN1 variant; its parents were heterozygous, and its male littermate was homozygous wild-type. Knowledge of the CLCN1 mutations responsible for the development of hereditary myotonia allows greater clarification of this condition.
Assuntos
Doenças do Cão , Miotonia Congênita , Miotonia , Animais , Cães , Masculino , Canais de Cloreto/genética , Canais de Cloreto/metabolismo , Doenças do Cão/diagnóstico , Doenças do Cão/genética , Éxons , Mutação , Miotonia/genética , Miotonia/veterinária , Miotonia Congênita/diagnóstico , Miotonia Congênita/genética , Miotonia Congênita/veterináriaRESUMO
This study investigated the seropositivity for hepatitis B virus (HBV), the vaccination index, and the vaccine response index in dentists from Campo Grande, MS. Blood samples from 474 dentists (63.7% women and 36.3% men), with a mean age of 38.5 +/- 10.5 years were analyzed by enzyme-linked immunosorbent assay to detect the serological markers: HBsAg, anti-HBs, and anti-HBc. The HBsAg positive samples were tested for anti-HBc IgM, HBeAg, and anti-HBe. A total of 51 (10.8%) dentists showed seropositivity for HBV. Three (0.6%) were HBsAg/anti-HBc/anti-HBe positive, 43 (9.1%) were anti-HBc/anti-HBs positive, and 5 (1.1%) had only anti-HBc. Viral DNA was detected by polymerase chain reaction in 9 (17.6%) out of 51 HBV seropositive samples. A vaccination index of 96.6% (458/474) was observed, although 73.1% (335/458)completed the three-dose schedule. Excluding 46 HBV seropositive individuals from 458 that reported vaccination, 412 were analyzed for vaccine response index. It was observed that 74.5% (307/412) were anti-HBs positive; this percentage increased to 79.1% when three doses were administered. The results showed a high vaccination index and a good rate of vaccine response; however, the failure in completing the three-dose schedule and the occurrence of HBV infection reinforce the need for more effective prevention strategies.
Assuntos
Odontólogos , Vacinas contra Hepatite B/administração & dosagem , Vírus da Hepatite B/imunologia , Hepatite B/epidemiologia , Adulto , Idoso , Biomarcadores/sangue , Brasil/epidemiologia , Ensaio de Imunoadsorção Enzimática , Feminino , Hepatite B/imunologia , Anticorpos Anti-Hepatite B/sangue , Anticorpos Anti-Hepatite B/imunologia , Antígenos do Núcleo do Vírus da Hepatite B/sangue , Antígenos do Núcleo do Vírus da Hepatite B/imunologia , Antígenos de Superfície da Hepatite B/sangue , Antígenos de Superfície da Hepatite B/imunologia , Vacinas contra Hepatite B/imunologia , Vírus da Hepatite B/genética , Humanos , Masculino , Pessoa de Meia-Idade , Estudos SoroepidemiológicosRESUMO
This study investigated the seropositivity for hepatitis B virus (HBV), the vaccination index, and the vaccine response index in dentists from Campo Grande, MS. Blood samples from 474 dentists (63.7 percent women and 36.3 percent men), with a mean age of 38.5 ± 10.5 years were analyzed by enzyme-linked immunosorbent assay to detect the serological markers: HBsAg, anti-HBs, and anti-HBc. The HBsAg positive samples were tested for anti-HBc IgM, HBeAg, and anti-HBe. A total of 51 (10.8 percent) dentists showed seropositivity for HBV. Three (0.6 percent) were HBsAg/anti-HBc/anti-HBe positive, 43 (9.1 percent) were anti-HBc/anti-HBs positive, and 5 (1.1 percent) had only anti-HBc. Viral DNA was detected by polymerase chain reaction in 9 (17.6 percent) out of 51 HBV seropositive samples. A vaccination index of 96.6 percent (458/474) was observed, although 73.1 percent (335/458)completed the three-dose schedule. Excluding 46 HBV seropositive individuals from 458 that reported vaccination, 412 were analyzed for vaccine response index. It was observed that 74.5 percent (307/412) were anti-HBs positive; this percentage increased to 79.1 percent when three doses were administered. The results showed a high vaccination index and a good rate of vaccine response; however, the failure in completing the three-dose schedule and the occurrence of HBV infection reinforce the need for more effective prevention strategies.
