scholarly journals Linear and whorled nevoid hypermelanosis with pigmentary incontinence and congenital malformations

2022 ◽  
Vol 23 (1) ◽  
pp. 95
Author(s):  
KennethSalazar Madrigal ◽  
NoeliaChaves Alfaro ◽  
Diego Morales-Neira
1963 ◽  
Vol 02 (02) ◽  
pp. 49-51 ◽  
Author(s):  
K. Knapp ◽  
W. Lenz

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.


Diabetes ◽  
1991 ◽  
Vol 40 (10) ◽  
pp. 1245-1250 ◽  
Author(s):  
H. Otani ◽  
O. Tanaka ◽  
R. Tatewaki ◽  
H. Naora ◽  
T. Yoneyama

2018 ◽  
Vol 22 (5) ◽  
pp. 45-50
Author(s):  
A. M. Mambetova ◽  
A. M. Inarokova ◽  
N. N. Shabalova ◽  
D. V. Bizheva ◽  
A. T. Mahiyeva

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.


Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  

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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