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Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida.

Authors
  • Petronic, Ivana1, 2
  • Marinkovic, Dragoslav3
  • Nikolic, Dejan1, 2
  • Cirovic, Dragana1, 2
  • Golubovic, Zoran2, 4
  • Milanovic, Filip2
  • Cvjeticanin, Suzana2, 5
  • 1 Physical Medicine and Rehabilitation Department, University Children's Hospital, 11000 Belgrade, Serbia. , (Serbia)
  • 2 Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia. , (Serbia)
  • 3 Serbian Academy of Sciences and Arts, Department of Chemical and Biological Sciences, 11000 Belgrade, Serbia. , (Serbia)
  • 4 Pediatric Surgery Department, University Children's Hospital, 11000 Belgrade, Serbia. , (Serbia)
  • 5 Institute for Human Genetics, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia. , (Serbia)
Type
Published Article
Journal
Healthcare (Basel, Switzerland)
Publication Date
Mar 24, 2020
Volume
8
Issue
1
Identifiers
DOI: 10.3390/healthcare8010068
PMID: 32214024
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

In this study we analyzed the degree of genetic homozygosity among spina bifida patients with different degrees of neurogenic lesion (N = 82), as well as their clinical and neurological characteristics, compared to healthy control individuals (N = 100). According to clinical and electromyographic findings, we separately assessed the type of neurogenic lesion (paresis or paralysis). Regarding the degree of neurogenic lesion, patients were classified into three groups: mild, moderate and severe. We analyzed six muscles. For assessing the degree of individual genetic homozygosity, we tested the presence and distribution of 15 homozygous recessive characteristics (HRC). The predominant type of neurogenic lesion was paresis. Every third evaluated muscle was affected in the group with mild neurogenic lesion, while more than half were affected in the group with severe neurogenic lesion. The average values of HRCs among different groups of patients and the control showed the population-genetic differences that exist among them (control HRC/15=3.0±0.2; mild HRC/15=3.6±0.2; moderate HRC/15=4.8±0.3; severe neurogenic lesion HRC/15=5.0±0.3). Spina bifida patients have a significant increase of recessive homozygosity and a decreased variability compared to the control group. As neurogenic lesions are more severe, more affected muscles are present, as well as the increase of individual recessive homozygosity.

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