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  • 11
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Molecular studies have shown microdeletions in region q11 of chromosome 22 in nearly all patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes (DGS, VCFS and CTAFS, respectively) and in a high percentage of non-syndromic familial cases of conotruncal defects (CTD). CTD account for roughly a fourth to a third of all non-syndromic congenital heart defects (CHD), thus, 22q11 could harbor a major genetic factor of CHD. We searched for a 22q11 microdeletion in familial cases of non-syndromic CTD. Thirty-six cases of various isolated CTD, that is without history of hypocalcemia, immune deficiency, absent thymus, and dysmorphic appearance, were selected. With 48F8, a cosmid probe localized in the smallest deleted region of the DiGeorge critical region (DGCR), we found no deletions by fluorescence in situ hybridization in these 36 affected individuals of 16 families with recurrent CTD. Moreover, D22S264, a microsatellilte localized at the distal part of the largest deleted region, was used to genotype the patients. Thirty-two patients out of 37 were heterozygous and hence not deleted at this locus, whereas 5 were uninformative. In conclusion, there are no large deletions in familial cases of various CTD, whether these defects are identical or not within a family. This result does not rule out other minor anomalies in this chromosomal region.
    Type of Medium: Electronic Resource
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  • 12
    ISSN: 1432-1971
    Keywords: Aortic valve stenosis ; Endocardial fibroelastosis ; Neonates ; Left ventricular dysfunction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary 30 patients with severe aortic valve stenosis presented in severe congestive heart failure within the first 2 months of life. In 25 of them, left ventricular volume and contractility were assessed; five of them had a left ventricle of normal size, in 11 left ventricular size was diminished, and in nine patients it was enlarged. Eleven of the infants had extensive endocardial fibroelastosis (EFE) evidenced angiographically by myocardial sinusoids in ten of them and established at autopsy in six. The presence of EFE correlated with the size of the left ventricle; eight of 11 with a small left ventricle, two of five with a normal-sized left ventricle, and one of nine with an enlarged left ventricle displayed EFE. The severe depression of left ventricular function associated with EFE was documented by left ventricular volume determinations on exclusion of the myocardial sinusoids. Of 30 patients, 12 (including eight of 26 who underwent surgery) did not survive. Mortality, severity, and early onset of symptoms were associated mainly with small size of the left ventricle and with the severe left ventricular dysfunction associated with EFE.
    Type of Medium: Electronic Resource
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  • 13
    ISSN: 1435-1285
    Keywords: Key words Cardiovascular malformations — birth prevalence — fatality rate — classification ; Schlüsselwörter Kardiovaskuläre Fehlbildungen — Geburtsprävalenz — Letalität — Klassifikation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The study presents data on cardiovascular malformations in Bavarian livebirths, born between 1984 and 1991. Cases have been ascertained retrospectively by reviewing hospital records of all children being referred to a children's hospital up to 2 years of age. The classification scheme was based on abnormalities in developmental mechanisms. Among 984,570 livebirths, 7020 cases with structural congenital heart disease were identified. The birth prevalence was 7.1 per 1000 livebirths. Between 1984 and 1991, total prevalence increased from 5.9/103 to 8.0/103. Prevalence in males was 7.3/103 and in females 6.9/103. 78.1% of all heart defects were isolated, the remaining 21.9% were associated either with chromosomal abnormalities (9.6%), non-chromosomal syndromes (1.0%), or noncardiac malformations of other organ systems (11.3%). Total fatality rate was 12.0%, with two thirds of deaths occurring within a month of birth or the following month of life. Data were compared with those of the Baltimore-Washington Infant Study. This study presents for the first time regional data on birth prevalences of congenital heart defects in Germany. The classification scheme reduces the wide spectrum of phenotype cardiovascular defects to several pathogenetic groups. The defects in each group may be related to similar causal factors.
    Notes: Zusammenfassung In einer retrospektiven Erhebung in den bayerischen und zwei grenznahen Kinderkliniken wurden die Lebendgeborenen der Geburtsjahrgänge 1984–1991 mit Wohnsitz in Bayern erfaßt, die während ihrer ersten beiden Lebensjahre wegen einer kardiovaskulären Fehlbildung behandelt wurden. Die Klassifikation der Herz- und Gefäßanomalien erfolgte nach einem an der Störung embryonaler Entwicklungmechanismen orientierten Schema. Unter den 984 570 Lebendgeborenen in Bayern wurden während des achtjährigen Beobachtungszeitraumes 7020 Kinder mit einem Herzfehler diagnostiziert. Das entspricht einer Geburtsprävalenz von 7,1 pro 1000 Lebendgeborene. Zwischen 1984 und 1991 stieg die Gesamtprävalenz von 5,9/103 auf 8,0/103 an. Knaben waren mit 7,3/103 häufiger betroffen als Mädchen mit 6,9/103 Lebendgeborene des jeweiligen Geschlechts. 78,1% der Defekte traten isoliert auf, die restlichen 21,9% in Kombination mit chromosomalen Störungen (9,6%), nichtchromosomalen Syndromen (1,0%) und nichtsyndromalen Fehlbildungen anderer Organe (11,3%). Die Letalität der Gesamtgruppe bis zum Ende des zweiten Lebensjahres betrug 12,5%, wobei etwa zwei Drittel der Todesfälle in den Geburts- und Folgemonat fielen. Die Daten werden mit denen der Baltimore-Washington Infant Study verglichen. Die Studie präsentiert erstmals flächendeckende Daten zu angeborenen Herzfehlern in Deutschland. Das angewandte Klassifikationsschema faßt die große Zahl anatomischer Defekte des Herz-Gefäß-Systems zu denkbaren pathogenetischen Gruppen zusammen, die möglicherweise durch ähnliche Kausalfaktoren bedingt sind.
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  • 14
    Publication Date: 2018-02-22
    Description: Rapidly spreading antibiotic resistance and the low discovery rate of new antimicrobial compounds demand more effective strategies for early drug discovery. One bottleneck in the drug discovery pipeline is the identification of the modes of action (MoAs) of new compounds. We have developed a rapid systematic metabolome profiling strategy to classify the MoAs of bioactive compounds. The method predicted MoA-specific metabolic responses in the nonpathogenic bacterium Mycobacterium smegmatis after treatment with 62 reference compounds with known MoAs and different metabolic and nonmetabolic targets. We then analyzed a library of 212 new antimycobacterial compounds with unknown MoAs from a drug discovery effort by the pharmaceutical company GlaxoSmithKline (GSK). More than 70% of these new compounds induced metabolic responses in M. smegmatis indicative of known MoAs, seven of which were experimentally validated. Only 8% (16) of the compounds appeared to target unconventional cellular processes, illustrating the difficulty in discovering new antibiotics with different MoAs among compounds used as monotherapies. For six of the GSK compounds with potentially new MoAs, the metabolome profiles suggested their ability to interfere with trehalose and lipid metabolism. This was supported by whole-genome sequencing of spontaneous drug-resistant mutants of the pathogen Mycobacterium tuberculosis and in vitro compound-proteome interaction analysis for one of these compounds. Our compendium of drug-metabolome profiles can be used to rapidly query the MoAs of uncharacterized antimicrobial compounds and should be a useful resource for the drug discovery community.
    Print ISSN: 1946-6234
    Electronic ISSN: 1946-6242
    Topics: Medicine
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