Alexandre Serra, Doris Henne-Bruns
Background: Molecular genetic techniques have greatly improved the understanding of pediatric illnesses. Based on our own experience, the aim of this review is to illustrate the importance of such molecular studies for the development of the pediatric surgery.
Methods: Various molecular techniques for the investigation of DNA, RNA, Chromosomes, gene sequences, genomic rearrangements and gene amplifications have been employed to answer the clinical and therapeutic questions. Suitable statistic methods allowed the comparison of the results between patients and controls whenever possible.
Results: We demonstrated that essential information for diagnostics and therapy of pediatric illnesses can be obtained through molecular genetic testing, including (but not limited to) translocations and consequent protein chimera expression in infantile lung tumors, the occurrence of genomic variants associated to neuroblastomas, the occurrence of microdeletions and insertions in target genes for autonomic diseases, the significantly higher occurrence of target gene mutations and polymorphisms in hypertrophic pyloric stenosis, the identification of a somatic gonosomal mosaicism and uniparental disomy in a complex disorder of sex differentiation and finally the simultaneous occurrence of embryonal tumors as early consequences of genomic instability.
Conclusions: The importance of molecular genetic research for the development of pediatric surgery is evident from the multiple findings hereby described, demonstrating that the application of molecular genetic techniques and the development of a “genetically oriented” thinking for diagnostic and therapy strategies may indeed broaden the expertise and knowledge of pediatric surgeons, ultimately resulting in a better quality of care and higher rate of success for the pediatric patients.PDF
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