Genetic Toxicology and Its Role in the Study of Congenital Malformations

1987 ◽  
pp. 257-263 ◽  
Author(s):  
David Brusick
Keyword(s):  
Congenital Malformations ◽  
Genetic Toxicology

Studies on Thalidomide as a Cause of Congenital Malformations

1963 ◽  
Vol 02 (02) ◽  
pp. 49-51 ◽  
Author(s):  
K. Knapp ◽  
W. Lenz
Keyword(s):  
Federal Republic ◽  
Congenital Malformations ◽  
Chemical Substance ◽  
Federal Republic Of Germany ◽  
Virus Diseases ◽  
Many Sources

SummaryIn 1961 an increase in certain congenital malformations was noticed in various parts of the Federal Republic of Germany. From the outset, it seemed very probable that a single cause was responsible, since, although these malformations varied, they appeared to belong to one and the same syndrome. For general reasons, such causes as radioactivity, contraceptives, attempted abortions or virus diseases did not provide an acceptable explanation. The epidemiology was, however, suggestive of some chemical substance taken orally.After thalidomide had been indicated in several histories, suspicion of that drug was aroused and, within one week, intake of it could be proved or was found to be very likely in 17 out of 20 cases, while in the remaining cases it could not be excluded. Though this first result was highly significant, we were at first reluctant to incriminate thalidomide definitely, because there was still some doubt about the reliability of the histories. But within a few weeks, the thalidomide aetiology received support from many sources. Specific studies on limited material are sometimes superior to extensive, broadly planned investigations.

Diabetic environment and genetic predisposition as causes of congenital malformations in NOD mouse embryos

Diabetes ◽  
1991 ◽  
Vol 40 (10) ◽  
pp. 1245-1250 ◽  
Author(s):  
H. Otani ◽  
O. Tanaka ◽  
R. Tatewaki ◽  
H. Naora ◽  
T. Yoneyama
Keyword(s):  
Genetic Predisposition ◽  
Congenital Malformations ◽  
Mouse Embryos ◽  
Nod Mouse

NATRIURETIC PEPTIDES LEVEL AND THE STATUS OF THE RENIN – ANGIOTENSIN-ALDOSTERONE SYSTEM IN CHRONIC KIDNEY DISEASE IN PATIENTS WITH CONGENITAL MALFORMATIONS OF THE URINARY SYSTEM

2018 ◽  
Vol 22 (5) ◽  
pp. 45-50
Author(s):  
A. M. Mambetova ◽  
A. M. Inarokova ◽  
N. N. Shabalova ◽  
D. V. Bizheva ◽  
A. T. Mahiyeva
Keyword(s):  
Congenital Malformations ◽  
Control Group ◽  
Healthy Children ◽  
Urinary System ◽  
Renin Angiotensin Aldosterone System ◽  
Natriuretic Hormone ◽  
Renin Angiotensin ◽  
Group I ◽  
The Status ◽  
Sick Children

THE AIM. To determine the concentration of natriuretic peptide in the blood serum in children with congenital malformations of the urinary system (CM US) and to compare with the activity of renin-angiotensin-aldosterone system (RAAS).MATERIALS AND METHODS.119 patients with CM US aged 3 to 18 years were examined. A control group of 10 clinically healthy children. 3 groups were assigned: group I – 55 children with  congenital vesicoureteral reflux, and group II – 34 children with  congenital hydronephrosis and ureterohydronephrosis, III group – 30 children with other forms of dysembryogenesis of the US. Following indicators were identified by ELISA in the blood: renin, aldosterone,  N – terminal propeptide natriuretic hormone (NT-рroВNР). RESULTS.NT-рroВNР, renin and aldosterone hyperproduction were diagnosed in 59,6%, 69,7%, 54.6 % of sick children relatively. Concentrations were higher in all variants of  malformations in comparison with the control group. Significant  differences were revealed in obstructive species, where arterial  hypertension (AH) was diagnosed more often. Patients with AH  recorded significantly higher concentrations of NT-proВNР and renin.CONCLUSION.The key point in pathological processes developmentand progression in the cardiovascular system and kidneys is the  activation of RAAS. The system of natriuretic factors is important in maintaining the compensated state of patients due to the blockade of RAAS.

Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018

2020 ◽  
pp. 76-78
Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  
Keyword(s):  
Reference Values ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Overall Effectiveness ◽  
Regions Of Russia

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.

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