RESUMO
The disturbances of the 11p15.5 chromosomal region are associated with Beckwith-Wiedemann syndrome, Russell-Silver syndrome, Wilms tumor, IMAGe syndrome, and idiopathic hemihyperplasia. The aim of this research was to examine the hypothesis that 11p15.5 initially became unstable in the European population about 200â¯years ago. The medical literature from 1557 onwards, especially treatises on teratology, body asymmetry, and books of normal and pathologic anatomy, was searched for any mentioning of lateral body asymmetry, macroglossia and other possible visually detectable symptoms associated with the above-mentioned syndromes. The results indicate that lateral body asymmetry was not described before the first half of the 19th century, it was mentioned in the 1820s, and the first description of a true case was published in 1850. All first cases of hemihyperplasia were reported in continental Europe. Historical data suggest that the 11p15.5 chromosomal region became unstable in the first half of the 19th century. Our preliminary hypothesis is that de novo mutation occurred in continental Europe. Additional genetic research is needed to investigate the development of 11p15.5 instability during this period.
Assuntos
Instabilidade Cromossômica , Cromossomos Humanos Par 11/genética , Doenças Genéticas Inatas/história , Mutação , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/história , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/história , Metilação de DNA , Europa (Continente) , Feminino , Doenças Genéticas Inatas/genética , Predisposição Genética para Doença , Impressão Genômica , Geografia , História do Século XVI , História do Século XVII , História do Século XVIII , História do Século XIX , História do Século XX , Humanos , Macroglossia/genética , Macroglossia/história , MasculinoRESUMO
Our aim was to investigate the reliability of ultra-short HRV in patients with DM. A good correlation was found between the 1 minute and 5 minute parameters for maximal-RR, minimal-RR, average-RR, SDNN, RMSSD, pNN50, and total power. Also, a good correlation between 10 second and 5 minute parameters was found for maximal-RR, minimal-RR, average-RR, and RMSSD. We suggest that certain ultra-short HRV parameters can be used efficiently in DM patients for autonomic evaluation.
