Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing

OBJECTIVE To perform long QT syndrome and catecholaminergic polymorphic ventricular tachycardia cardiac channel postmortem genetic testing (molecular autopsy) for a large cohort of cases of autopsy-negative sudden unexplained death (SUD). METHODS From September 1, 1998, through October 31, 2010, 173 cases of SUD (106 males; mean ± SD age, 18.4 ± 12.9 years; age range, 1-69 years; 89% white) were referred by medical examiners or coroners for a cardiac channel molecular autopsy. Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, a comprehensive mutational analysis of the long QT syndrome susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2) and a targeted analysis of the catecholaminergic polymorphic ventricular tachycardia type 1-associated gene (RYR2) were conducted. RESULTS Overall, 45 putative pathogenic mutations absent in 400 to 700 controls were identified in 45 autopsy-negative SUD cases (26.0%). Females had a higher yield (26/67 [38.8%]) than males (19/106 [17.9%]; P<.005). Among SUD cases with exercise-induced death, the yield trended higher among the 1- to 10-year-olds (8/12 [66.7%]) compared with the 11- to 20-year-olds (4/27 [14.8%]; P=.002). In contrast, for those who died during a period of sleep, the 11- to 20-year-olds had a higher yield (9/25 [36.0%]) than the 1- to 10-year-olds (1/24 [4.2%]; P=.01). CONCLUSION Cardiac channel molecular autopsy should be considered in the evaluation of autopsy-negative SUD. Several interesting genotype-phenotype observations may provide insight into the expected yields of postmortem genetic testing for SUD and assist in selecting cases with the greatest potential for mutation discovery and directing genetic testing efforts.

Ms. hebr. oct. 173 - Sefer diḳduḳ

Vorbesitzer: Hermann Lotze

Ms. lat. oct. 173 - Quaestiones theologicae. Exercitia philologica

Vorbesitzer: Georg Böhme; Legatum Waldschmidianum

Ein Ehevertrag [Illustration] : Gießener Papyrus Nr. 2 vom J. 173 v. d. gew. Zeitr.

Scan von Monochrom-Mikroform

Ms. Barth. 173 - Florilegia patristica

Vorbesitzer: Brune-Kütze-Legat; Bartholomaeusstift Frankfurt am Main

Ms. Praed. 173 - Liturgische Messgebete

Vorbesitzer: Johannes Lenglin; Johannes Kocher; Dominikanerkloster Frankfurt am Main

Na 50 Nachlass Arthur Schopenhauer - 'Schopenhauer-Archiv', 173 - Hervorhebung von J. Kormann der "Parerga und Paralipomena"

u.a.: Traumbeschreibung; Abdruck der Parerga und Paralipomena in einer Hamburger Modezeitung; Immanuel Kant; Friedrich Schelling;

Ms.Ff.F.Stoltze 3. 173 - Brief von Theobald Kerner an Friedrich Stoltze

Zu Stoltzes Besuch in Weinsberg

Na 1 Nachlass Max Horkheimer, 455 - Korrespondenzen u.a. mit Margo H. Wolff und Karl August Wittfogel (p. V 173, 210-429)

19 Briefe zwischen Lisa Witherell (geb. Richter) und Max Horkheimer, 1963-1971; 2 Briefe zwischen Werner Wittayer (stud. phil.) und Max Horkheimer, 1964; 4 Drucksachen vom Landtagspräsidenten Otto Witte an Max Horkheimer, 1952-1954; 2 Briefe an Otto Witte von Max Horkheimer, 1952-1953; 1 Todesanzeige, 1963; 4 Briefe zwischen der Studentin Ulrike Wittenberg und Max Horkheimer, 1972-1973; 4 Briefe zwischen dem Professor Karl A. Wittfogel und Max Horkheimer, 1972; 3 Briefe zwischen dem Oberstudiendirektor Dr. Kurt Debus und Max Horkheimer, 1967; 3 Briefe zwischen David Wodlinger und Max Horkheimer, 1960; 2 Briefe zwischen Dr. Herman Wohlstein und Max Horkheimer, 1965; 16 Briefe an Johanna Woitschach von Max Horkheimer, 1970-1973 (die Briefe an Max Horkheimer wurden zurückverlangt); 1 Brief von Ernst Wolf an Max Horkheimer, San Francisco, 1954; 3 Briefe zwischen dem Diplom-Psychologen Heinz E. Wolf und Max Horkheimer, 1958; 13 Briefe zwischen dem Oberstudiendirektor Oskar Wolfenstädter und Max Horkheimer, 1968-1969; 4 Briefe zwischen der Ordensschwester Katherine Wolff und Max Horkheimer, 1970-1971; 25 Briefe zwischen Margo H. Wolff und Max Horkheimer, 1962-1973; 11 Briefe zwischen dem Professor Max Wolff und Max Horkheimer, 1960; 3 Briefe zwischen dem Professor Manfred Wolfson und Max Horkheimer, 1971; 6 Briefe von der Physiotherapeutin Helga Wolk an Max Horkheimer, 1970-1971; 13 Briefe zwischen Hedwig G. de Wollenberger und Max Horkheimer, 1966-1970; 1 Brief an den Professor Günther Wollheim von Max Horkheimer, 1965; 4 Briefe zwischen Johanna Wopperer-Ege und Max Horkheimer, 1970; 5 Briefe zwischen Anton Wopperer und Max Horkheimer, 1969-1970; 3 Briefe an die World Future Society von Max Horkheimer, 1969-1973; 2 Briefe zwischen dem World Jewish Congress und Max Horkheimer, 1970; 2 Briefe zwischen dem Professor Theodor Würtenberger und Max Horkheimer, 1964; 3 Briefe zwischen der Würtembergischen Landesbibliothek und Max Horkheimer, 1969; 16 Briefe zwischen Rösle Wüstholz und Max Horkheimer, 1951-1959; 2 Briefe zwischen Christoph Wulf und Max Horkheimer, 1973; 1 Brief an Jssy Wygoda von Max Horkheimer, 1964; 2 Briefe zwischen Dr. Hans von Wyl und Max Horkheimer, 1971; 2 Briefe zwischen Jacques Wyler und Max Horkheimer, 1973; 1 Brief von Gisela Wysocki an Max Horkheimer, o.J. (1973?);

(Table T1) Geochemical composition of tochilinite and related minerals of ODP Hole 173-1068A

Tochilinite (approximately FeS(Mg,Fe)(OH)2) is locally abundant in Hole 1068A serpentinites from Cores 173-1068A-21R and 22R. It occurs in veins, as fillings in void space, and in intergrowths with serpentine and andradite. An apparently related mineral, but with Ca and Al largely replacing Mg, occurs in association with, and possibly as a replacement of, pyrrhotite in serpentinite breccias from the bottom of Core 173-1068A-20R. The transition from Mg-Fe-rich brucite tochilinites to Ca- and S-rich carbonate tochilinites is consistent with increasing sulfur and oxygen activity upsection. Tochilinite has been reported at other sites on the Iberia Abyssal Plain and is abundant to the point of being a rock-forming mineral in several samples from Site 1068. Rather than being a mineralogical curiosity, tochilinite appears to be common and a major sink for sulfur in the upper serpentinites of the Iberia Abyssal Plain.