Croatian medical journal
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Croatian medical journal · Jun 2024
ReviewGenomic sequencing for newborn screening: current perspectives and challenges.
Traditional newborn screening (NBS) serves as a critical tool in identifying conditions that may impact a child's health from an early stage. Newborn sequencing (NBSeq), the comprehensive analysis of an infant's genome, holds immense promise for revolutionizing health care throughout the lifespan. NBSeq allows for early detection of genetic disease risk and precision personalized medicine. ⋯ Advances in bioinformatics, machine learning, and genomic interpretation are crucial for translation into actionable clinical insights. Scalability and improving downstream health care access are vital for equitability, particularly in underserved communities. By fostering interdisciplinary collaboration, advancing technology and infrastructure, and upholding ethical principles, we can unlock the full potential of NBSeq as a tool for precision medicine and pave the way toward a future where every child has the opportunity for a healthier, genomics-informed start to life.
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Croatian medical journal · Jun 2024
Precise identification of cascading alpha satellite higher order repeats in T2T-CHM13 assembly of human chromosome 3.
To precisely identify and analyze alpha-satellite higher-order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3. ⋯ Our findings emphasize the complexity within the chromosome 3 centromere as well as deviations from expected highly regular patterns.
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Croatian medical journal · Jun 2024
Case ReportsStone-induced urethral fistula treatment with microfragmented adipose tissue containing mesenchymal stem cells: a case report from veterinary medicine with potential application in humans.
We report on a case of a two-year-old male dog, breed chow-chow, who suffered from urethral fistula as a result of ureterolithiasis. The urethral defect was identified intraoperatively with methylene blue. An autologous regenerative approach was combined with surgical closure of the defect, due to the well-known healing issues of the urethral wall in such conditions. ⋯ One month after the procedure, healing was confirmed with positive-contrast cystography. This therapeutic approach yielded success, and the follow-up period of one year was uneventful. The observed positive outcome of this approach in the canine model may be considered as a starting point for investigating the translational potential of the treatment in human medicine.
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Croatian medical journal · Jun 2024
Review Historical ArticleIdentification of skeletal remains in Croatia and Bosnia and Herzegovina, including the homeland war - a 30-year review.
Over the past 30 years, forensic experts from Croatia and Bosnia and Herzegovina have embraced advanced technologies and innovations to enable great efficacy and proficiency in the identification of war victims. The wartime events in the countries of former Yugoslavia greatly influenced the application of the selected DNA analyses as routine tools for the identification of skeletal remains, especially those from mass graves. ⋯ Collaboration with reputable foreign forensic experts helped tremendously in the efforts to start applying DNA analysis routinely and with increasing success. In this article, we reviewed the most significant achievements related to the application of DNA analysis in identifying skeletal remains in situations where standard identification methods were insufficient.