1.Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family.
Seok-Hwee KOO ; Wee-Siong TEO ; Chi-Keong CHING ; Soh-Ha CHAN ; Edmund J D LEE
Annals of the Academy of Medicine, Singapore 2007;36(6):394-398
INTRODUCTIONLong QT syndrome (LQTS), an inherited cardiac arrhythmia, is a disorder of ventricular repolarisation characterised by electrocardiographic abnormalities and the onset of torsades de pointes leading to syncope and sudden death. Genetic polymorphisms in 5 well-characterised cardiac ion channel genes have been identified to be responsible for the disorder. The aim of this study is to identify disease-causing mutations in these candidate genes in a LQTS family.
MATERIALS AND METHODSThe present study systematically screens the coding region of the LQTS-associated genes (KCNQ1, HERG, KCNE1, KCNE2 and SCN5A) for mutations using DNA sequencing analysis.
RESULTSThe mutational analysis revealed 7 synonymous and 2 non-synonymous polymorphisms in the 5 ion channel genes screened.
CONCLUSIONWe did not identify any clear identifiable genetic marker causative of LQTS, suggesting the existence of LQTS-associated genes awaiting discovery.
Adolescent ; Adult ; Child ; DNA Mutational Analysis ; ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; analysis ; genetics ; Female ; Frameshift Mutation ; Humans ; KCNQ1 Potassium Channel ; analysis ; genetics ; Long QT Syndrome ; genetics ; Male ; Middle Aged ; Muscle Proteins ; analysis ; genetics ; NAV1.5 Voltage-Gated Sodium Channel ; Polymorphism, Genetic ; genetics ; Potassium Channels, Voltage-Gated ; analysis ; genetics ; Sodium Channels ; analysis ; genetics ; Trans-Activators
2.Certification of poliomyelitis eradication in Singapore and the challenges ahead.
Hwee Ching LEE ; Joanne TAY ; Cynthia Y H KWOK ; Moi Kim WEE ; Li Wei ANG ; Yuske KITA ; Jeffery L CUTTER ; Kwai Peng CHAN ; Suok Kai CHEW ; Kee Tai GOH
Annals of the Academy of Medicine, Singapore 2012;41(11):518-528
INTRODUCTIONThis study reviewed the epidemiological trends of poliomyelitis from 1946 to 2010, and the impact of the national immunisation programme in raising the population herd immunity against poliovirus. We also traced the efforts Singapore has made to achieve certification of poliomyelitis eradication by the World Health Organisation.
MATERIALS AND METHODSEpidemiological data on all reported cases of poliomyelitis were obtained from the Communicable Diseases Division of the Ministry of Health as well as historical records. Coverage of the childhood immunisation programme against poliomyelitis was based on the immunisation data maintained by the National Immunisation Registry, Health Promotion Board. To assess the herd immunity of the population against poliovirus, 6 serological surveys were conducted in 1962, 1978, 1982 to 1984, 1989, 1993 and from 2008 to 2010.
RESULTSSingapore was among the fi rst countries in the world to introduce live oral poliovirus vaccine (OPV) on a mass scale in 1958. With the comprehensive coverage of the national childhood immunisation programme, the incidence of paralytic poliomyelitis declined from 74 cases in 1963 to 5 cases from 1971 to 1973. The immunisation coverage for infants, preschool and primary school children has been maintained at 92% to 97% over the past decade. No indigenous poliomyelitis case had been reported since 1978 and all cases reported subsequently were imported.
CONCLUSIONSingapore was certified poliomyelitis free along with the rest of the Western Pacific Region in 2000 after fulfilling all criteria for poliomyelitis eradication, including the establishment of a robust acute flaccid paralysis surveillance system. However, post-certification challenges remain, with the risk of wild poliovirus importation. Furthermore, it is timely to consider the replacement of OPV with the inactivated poliovirus vaccine in Singapore's national immunisation programme given the risk of vaccine-associated paralytic poliomyelitis and circulating vaccine-derived polioviruses.
Adolescent ; Certification ; Child ; Child, Preschool ; Disease Eradication ; organization & administration ; Female ; Humans ; Infant ; Male ; Poliomyelitis ; epidemiology ; prevention & control ; virology ; Poliovirus ; immunology ; Singapore ; epidemiology