Real-time quantitative PCR assay for the detection of Helicobacter pylori: no association with sudden infant death syndrome

Loddenkötter, Brigitte; Becker, Karsten; Hohoff, Carsten; Brinkmann, B.; Bajanowski, Thomas

doi:10.1007/s00414-005-0531-2

Cited by 15 publications

(9 citation statements)

References 27 publications

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“…Informed written consent of the children's parents, or at least one parent, was obtained prior to inclusion in the database according to local ethic committee recommendations. Mutation screening of all coding sequences in KCNQ1, KCNH2, and SCN5A was performed by direct sequencing using standard procedures [11,19]. Each mutation was subsequently confirmed by another method and independent reactions.…”

Section: Study Population and Measurementsmentioning

confidence: 99%

QT interval prolongation and risk for cardiac events in genotyped LQTS-index children

et al. 2008

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Congenital long-QT syndrome (LQTS) is an inherited cardiac disorder with a disturbance in repolarization characterized by a prolonged QT interval on the surface electrocardiogram and life-threatening ventricular tachycardia. Publications from the International LQTS Registry have provided information that the cardiac risk may be influenced by gender, genotype, exposure to arrhythmia triggers, and previous cardiac events. In children, early-onset of disease, changes in life style, and medical treatment is a sensitive issue and significant, gender-related differences of a first life-threatening event were reported. Thus, we investigated the clinical features of a large genotyped population of LQTS-index children (age < or =16 years) upon a single-center experience and determined risk factors for symptoms. Of 83 children [mean corrected QT interval (QTc) 510 +/- 74 ms], 89% had LQT1, -2, or -3. Nine patients (11%) were identified as having Jervell and Lange-Nielsen syndrome. Among symptomatic children (n = 51, 61%), syncope was the most prevalent symptom at initial presentation (49%); however, aborted cardiac arrest (ACA) occurred in 33% and sudden cardiac death (SCD) in 18%, respectively, as the initial manifestation. During a mean follow-up period of 5.9 +/- 4.7 years, 31% of the children developed symptoms while on therapy (86% syncope, 9% ACA, 5% SCD). Statistical analyses of risk factors for cardiac events showed that the QTc >500 ms was a strong and significant predictor for cardiac events during follow-up (p = 0.02). Furthermore, a prior syncope [hazard ratio (HR), 4.05; 95% confidence interval (CI), 1.1 to 15.0; p = 0.03] or an ACA (HR, 11.7; 95% CI, 3.1 to 43.4; p = <0.001) identified children with an increased risk for recurrent cardiac events compared to asymptomatic LQT children. LQTS-index children manifest with a high percentage of severe symptoms. Among presently validated risk factors for LQTS, a QTc interval >500 ms and a history of prior syncope or ACA were strong predictors for recurrent cardiac events.

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Section: Study Population and Measurementsmentioning

confidence: 99%

QT interval prolongation and risk for cardiac events in genotyped LQTS-index children

et al. 2008

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“…New technologies now enable a highly sensitive detection of mRNA. For example, real-time quantitative PCR is the method of choice for the detection of small numbers of target copies (e.g., [11]). Therefore, the question arose whether examination of mRNA can give additional information on the circumstances of death.…”

Section: Introductionmentioning

confidence: 99%

Successful RNA extraction from various human postmortem tissues

et al. 2006

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Recently, several authors described the observation that RNA degradation does not correlate with the postmortem interval (PMI), but rather with other parameters like environmental impact and the circumstances of death. Therefore, the question arose if the analysis of gene expression could be a valuable tool in forensic genetics to contribute to the determination of the cause of death. In our study, six human tissues obtained from six individuals with PMI varying between 15 and 118 h were used for total RNA extraction. Quantification was performed using a GAPDH real-time assay, and the quality of mRNA was checked by amplification of different fragment lengths of the GAPDH transcript. In our set of samples, nearly all tissues in all PMI revealed satisfactory results, while skeletal muscle, followed by brain and heart, gave the best results. No correlation between PMI and RNA degradation could be detected, as very good results were observed for all tissues from the individual with the longest PMI. The highly promising results obtained in this study raise hopes that in the near future several fields of forensic investigation may profit from additional information about gene expression patterns and their correlation with pathological findings.

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“…Extraction was done using the NucleoSpin Tissue Kit (Macherey-Nagel, Düren, Germany). The purified DNA was eluted according to the manufacturer's instruction with 60 μl elution buffer and stored at −20°C [23].…”

Section: Genetic Analysis Of Lqts Genesmentioning

confidence: 99%

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study

Wedekind

Bajanowski²,

Friederich

et al. 2005

Int J Legal Med

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Sudden infant death syndrome (SIDS) is a frequent cause of death among infants. The etiology of SIDS is unknown and several theories, including fatal ventricular arrhythmias, have been suggested. We performed an epidemiological and genetic investigation of SIDS victims to estimate the presence of inherited long QT syndrome (LQTS) as a contributor for SIDS. Forty-one consecutively collected and unrelated SIDS cases were characterized by clinical and epidemiological criteria. We performed a comprehensive gene mutation screening with single-strand conformation polymorphism analysis and sequencing techniques of the most relevant LQTS genes to assess mutation frequencies. In vitro characterization of identified mutants was subsequently performed by heterologous expression experiments in Chinese hamster ovary cells and in Xenopus laevis oocytes. A positive family history for LQTS was suspected by mild prolonged Q-T interval in family members in 2 of the 41 SIDS cases (5%). In neither case, a family history of sudden cardiac death was present nor a mutation could be identified after thorough investigation. In another SIDS case, a heterozygous missense mutation (H105L) was identified in the N-terminal region of the KCNQ1 (LQTS 1) gene. Despite absence of this mutation in the general population and a high conservational degree of the residue H105 during evolution, electrophysiological investigations failed to show a significant difference between wild-type and KCNQ1(H105L)/minK-mediated I(Ks) currents. Our data suggest that a molecular diagnosis of SIDS related to LQTS genes is rare and that, even when an ion channel mutation is identified, this should be regarded with caution unless a pathophysiological relationship between SIDS and the electrophysiological characterization of the mutated ion channel has been demonstrated.

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Real-time quantitative PCR assay for the detection of Helicobacter pylori: no association with sudden infant death syndrome

Cited by 15 publications

References 27 publications

QT interval prolongation and risk for cardiac events in genotyped LQTS-index children

QT interval prolongation and risk for cardiac events in genotyped LQTS-index children

Successful RNA extraction from various human postmortem tissues

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study

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