Croatian Medical Journal最新文献_第3页

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. 克罗地亚 306 名非综合症听力损失患者的基因变异谱。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Ivona Sansović, Ana-Maria Meašić, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozić, Mijana Kero, Sanda Huljev Frković, Silvija Pušeljić

{"title":"Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.","authors":"Ivona Sansović, Ana-Maria Meašić, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozić, Mijana Kero, Sanda Huljev Frković, Silvija Pušeljić","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods.Methods: The study enrolled 306 unrelated patients with childhood-onset, mild-to-profound NSHL referred to Children's Hospital Zagreb for genetic testing between March 2006 and October 2023. The GJB2 variants were analyzed with the multiplex ligation-dependent probe amplification method and Sanger sequencing of the coding region of the GJB2 gene. In 21 patients negative for GJB2 biallelic variants, clinical exome sequencing (CES) was performed.Results: Among 234 disease-associated GJB2 alleles detected, 19 were clinically relevant, of which 18 were reported as pathogenic/likely pathogenic. The c.35delG variant accounted for 73.5% of the mutated alleles. More than half of the patients with biallelic GJB2 variants (64/110, 58.2%) were 35delG homozygotes. Seventeen non-GJB2 variants were found in 10 genes (TECTA, NOG, SLC26A4, PCDH15, TMPRSS3, USH2A, GATA3, MYO15A, SOX10, COL2A1) in 11 participants, and 5 variants (in TECTA, NOG, PCDH15, and SOX10) were novel (29.4%).Conclusion: We were able to elucidate the genetic cause of hearing loss in 121 patients, with an overall diagnostic rate of 39.5%. The c.35delG was the most common variant. CES allowed us to diagnose almost half of the patients with HL; to distinguish NSHL from the syndromic form of HL in cases where the phenotype was unclear or where symptoms were absent from an early age; and to discover novel variants.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of glycans in personalization of preventive health care. 聚糖在个性化预防保健中的作用。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Gordan Lauc, Dragan Primorac

引用次数: 0

Identification of skeletal remains in Croatia and Bosnia and Herzegovina, including the homeland war - a 30-year review. 克罗地亚及波斯尼亚和黑塞哥维那遗骸的鉴定，包括祖国战争--30 年回顾。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Dragan Primorac, Šimun Anđelinović, Marija Definis-Gojanović, Vedrana Škaro, Petar Projić, Miran Čoklo, Adna Ašić, Bruce Budowle, Henry Lee, Mitchell M Holland, Michael Baden, Damir Marjanović

引用次数: 0

Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping. 利用下一代测序技术、校内序列大小选择和单倍型技术对β-血红蛋白病进行无创产前检查。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Henry A Erlich, Lily Ko, Jiyae Lee, Katrina Eaton, Cassandra D Calloway, Ashutosh Lal, Reena Das, Manu Jamwal, Christian Lopez-Pena, Steven J Mack

{"title":"Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping.","authors":"Henry A Erlich, Lily Ko, Jiyae Lee, Katrina Eaton, Cassandra D Calloway, Ashutosh Lal, Reena Das, Manu Jamwal, Christian Lopez-Pena, Steven J Mack","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To develop a non-invasive prenatal test for beta-hemoglobinopathies based on analyzing maternal plasma by using next generation sequencing.Methods: We applied next generation sequencing (NGS) of maternal plasma to the non-invasive prenatal testing (NIPT) of autosomal recessive diseases, sickle cell disease and beta-thalassemia. Using the Illumina MiSeq, we sequenced plasma libraries obtained via a Twist Bioscience probe capture panel covering 4 Kb of chromosome 11, including the beta-globin (HBB) gene and >450 genomic single-nucleotide polymorphisms (SNPs) used to estimate the fetal fraction (FF). The FF is estimated by counting paternally transmitted allelic sequence reads present in the plasma but absent in the mother. We inferred fetal beta-globin genotypes by comparing the observed mutation (Mut) and reference (Ref) read ratios to those expected for the three possible fetal genotypes (Mut/Mut; Mut/Ref; Ref/Ref), based on the FF.Results: We bioinformatically enriched the FF by excluding reads over a specified length via in-silico size selection (ISS), favoring the shorter fetal reads, which increased fetal genotype prediction accuracy. Finally, we determined the parental HBB haplotypes, which allowed us to use the read ratios observed at linked SNPs to help predict the fetal genotype at the mutation site(s). We determined HBB haplotypes via Oxford Nanopore MinION sequencing of a 2.2 kb amplicon and aligned these sequences using Soft Genetics' NextGENe LR software.Conclusion: The combined use of ISS and HBB haplotypes enabled us to correctly predict fetal genotypes in cases where the prediction based on variant read ratios alone was incorrect.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genomic sequencing for newborn screening: current perspectives and challenges. 用于新生儿筛查的基因组测序：当前视角与挑战。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Nidhi Shah, Petar Brlek, Luka Bulić, Eva Brenner, Vedrana Škaro, Andrea Skelin, Petar Projić, Parth Shah, Dragan Primorac

{"title":"Genomic sequencing for newborn screening: current perspectives and challenges.","authors":"Nidhi Shah, Petar Brlek, Luka Bulić, Eva Brenner, Vedrana Škaro, Andrea Skelin, Petar Projić, Parth Shah, Dragan Primorac","doi":"","DOIUrl":"","url":null,"abstract":"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. The rapid evolution of DNA sequencing technologies and increasing affordability have spurred numerous endeavors to explore the potential of whole-genome sequencing in newborn screening. However, this transformative potential cannot be realized without challenges. Ethical aspects must be carefully navigated to safeguard individual rights and maintain public trust. Moreover, genomic data interpretation poses complex challenges due to its amount, the presence of variants of uncertain significance, and the dynamic nature of our understanding of genetics. Implementation hurdles, including cost, infrastructure, and specialized expertise, also present barriers to the widespread adoption of NBSeq. Addressing these challenges requires collaboration among clinicians, researchers, policymakers, ethicists, and stakeholders across various sectors. Robust frameworks for informed consent, data protection, and governance are essential. 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.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Tissue engineering and future directions in regenerative medicine for knee cartilage repair: a comprehensive review. 组织工程与膝关节软骨修复再生医学的未来发展方向：综合综述。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Dragan Primorac, Vilim Molnar, Dimitrios Tsoukas, Ilona Uzieliene, Carlo Tremolada, Petar Brlek, Emil Klarić, Dinko Vidović, Marija Zekušić, Jolita Pachaleva, Eiva Bernotiene, Adrian Wilson, Ali Mobasheri

{"title":"Tissue engineering and future directions in regenerative medicine for knee cartilage repair: a comprehensive review.","authors":"Dragan Primorac, Vilim Molnar, Dimitrios Tsoukas, Ilona Uzieliene, Carlo Tremolada, Petar Brlek, Emil Klarić, Dinko Vidović, Marija Zekušić, Jolita Pachaleva, Eiva Bernotiene, Adrian Wilson, Ali Mobasheri","doi":"","DOIUrl":"","url":null,"abstract":"This review evaluates the current landscape and future directions of regenerative medicine for knee cartilage repair, with a particular focus on tissue engineering strategies. In this context, scaffold-based approaches have emerged as promising solutions for cartilage regeneration. Synthetic scaffolds, while offering superior mechanical properties, often lack the biological cues necessary for effective tissue integration. Natural scaffolds, though biocompatible and biodegradable, frequently suffer from inadequate mechanical strength. Hybrid scaffolds, combining elements of both synthetic and natural materials, present a balanced approach, enhancing both mechanical support and biological functionality. Advances in decellularized extracellular matrix scaffolds have shown potential in promoting cell infiltration and integration with native tissues. Additionally, bioprinting technologies have enabled the creation of complex, bioactive scaffolds that closely mimic the zonal organization of native cartilage, providing an optimal environment for cell growth and differentiation. The review also explores the potential of gene therapy and gene editing techniques, including CRISPR-Cas9, to enhance cartilage repair by targeting specific genetic pathways involved in tissue regeneration. The integration of these advanced therapies with tissue engineering approaches holds promise for developing personalized and durable treatments for knee cartilage injuries and osteoarthritis. In conclusion, this review underscores the importance of continued multidisciplinary collaboration to advance these innovative therapies from bench to bedside and improve outcomes for patients with knee cartilage damage.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nearly coming full circle. The 13th ISABS-Mayo Clinic Conference, Split, Croatia, June 17-20, 2024. 近乎圆满。第 13 届 ISABS-Mayo Clinic 会议，克罗地亚斯普利特，2024 年 6 月 17-20 日。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Stanimir Vuk-Pavlović, Dragan Primorac

引用次数: 0

Pregnant couples' attitude toward extended pre-conceptional genomic screening. 怀孕夫妇对扩大孕前基因组筛查的态度。

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Mojca Čižek Sajko, Bernarda Prosenc, Lovro Vidmar, Gordana Njenjić, Paula Duff, Borut Peterlin

{"title":"Pregnant couples' attitude toward extended pre-conceptional genomic screening.","authors":"Mojca Čižek Sajko, Bernarda Prosenc, Lovro Vidmar, Gordana Njenjić, Paula Duff, Borut Peterlin","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To determine the attitudes of pregnant couples toward carrier screening genomic tests.Methods: A validated 22-item questionnaire was offered in person by medical staff to pregnant women ≥32 weeks' gestation and their partners attending prenatal classes from May to July 2014. The questionnaire inquired about demographic data, interest in various forms of genetic carrier screening tests, and genetic literacy.Results: Of 497 respondents, 69% expressed strong interest in carrier screening. The interested respondents exhibited substantial support for screening for common (82%) or all known genetic diseases (79%), as well as for treatable (79%) and untreatable diseases (85%). The majority of respondents believed that genetic test results could provide them with a sense of security but also provoke anxiety and fear. They were aware that these results could affect their perspective on life, work, and the atmosphere within their family, and acknowledged the potential effect on their relationship with their partner. However, none of these concerns diminished their desire to learn about their carrier status. Respondents with higher genetic literacy exhibited greater interest in screening tests (P=0.006). More non-religious respondents compared with practicing religious respondents (P=0.002), and more respondents with higher education compared with those with lower education, expressed interest in screening (P=0.003).Conclusion: Most respondents expressed considerable interest in receiving information about their carrier status through genetic tests.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Strong association of TLR2 and TLR3 polymorphisms with keratoacanthoma and common warts: a case-control study. TLR2和TLR3多态性与角化棘皮瘤和寻常疣密切相关：一项病例对照研究。

IF 1.5 4区医学

Croatian Medical Journal Pub Date : 2024-06-13

Silvana Karabatić Knezović, Dora Knezović, Antonela Matana, Neira Puizina Ivić, Irena Drmić Hofman

{"title":"Strong association of TLR2 and TLR3 polymorphisms with keratoacanthoma and common warts: a case-control study.","authors":"Silvana Karabatić Knezović, Dora Knezović, Antonela Matana, Neira Puizina Ivić, Irena Drmić Hofman","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To determine variations in allele and genotype frequencies between keratoacanthoma (KA) and common warts (CW), compared with the control group, in three single nucleotide polymorphisms (SNPs) within the TLR2, TLR3, and TLR9 genes.Methods: This case-control study involved samples from 161 patients with KA, 152 patients with CW, and 469 controls. DNA was isolated from formalin-fixed paraffin-embedded tissue sections. Three SNPs - rs4696480 in TLR2, rs7657186 in TLR9, and rs35213 in TLR3 - were genotyped with TaqMan Genotyping Assays on the 7500 Real-Time PCR System.Results: TLR2 rs4696480 and TLR3 rs7657186 were significantly overrepresented in KA and CW compared with controls (P<0.001). The association was stronger for CW than for KA, as evidenced by higher frequencies of the A allele and AA genotype for rs4696480. Both KA and CW patients had higher frequencies of the G allele and GG genotype for rs7657186 than controls. rs7657186 was moderately associated with KA and CW, with the G allele and GG genotype being more prevalent in CW cases, where no AA homozygotes were found.Conclusion: Genetic variants in TLR2 (rs4696480) and TLR3 (rs7657186) genes may affect KA and CW development, influencing immune responses and susceptibility to these skin lesions. Further research is required to elucidate TLR expression patterns and their role in KA development.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Strong association of TLR2 and TLR3 polymorphisms with keratoacanthoma and common warts: a case-control study TLR2 和 TLR3 多态性与角化棘皮瘤和寻常疣的密切关系：一项病例对照研究

IF 1.9 4区医学

Croatian Medical Journal Pub Date : 2024-06-01 DOI: 10.3325/cmj.2024.65.232

Silvana Karabatić Knezović, Dora Knezović, A. Matana, Neira Puizina Ivić, Irena Drmić Hofman

{"title":"Strong association of TLR2 and TLR3 polymorphisms with keratoacanthoma and common warts: a case-control study","authors":"Silvana Karabatić Knezović, Dora Knezović, A. Matana, Neira Puizina Ivić, Irena Drmić Hofman","doi":"10.3325/cmj.2024.65.232","DOIUrl":"https://doi.org/10.3325/cmj.2024.65.232","url":null,"abstract":"Aim To determine variations in allele and genotype frequencies between keratoacanthoma (KA) and common warts (CW), compared with the control group, in three single nucleotide polymorphisms (SNPs) within the TLR2, TLR3, and TLR9 genes. Methods This case-control study involved samples from 161 patients with KA, 152 patients with CW, and 469 controls. DNA was isolated from formalin-fixed paraffin-embedded tissue sections. Three SNPs – rs4696480 in TLR2, rs7657186 in TLR3, and rs35213 in TLR9 – were genotyped with TaqMan Genotyping Assays on the 7500 Real-Time PCR System. Results TLR2 rs4696480 and TLR3 rs7657186 were significantly overrepresented in KA and CW compared with controls (P < 0.001). The association was stronger for CW than for KA, as evidenced by higher frequencies of the A allele and AA genotype for rs4696480. Both KA and CW patients had higher frequencies of the G allele and GG genotype for rs7657186 than controls. rs7657186 was moderately associated with KA and CW, with the G allele and GG genotype being more prevalent in CW cases, where no AA homozygotes were found. Conclusion Genetic variants in TLR2 (rs4696480) and TLR3 (rs7657186) genes may affect KA and CW development, influencing immune responses and susceptibility to these skin lesions. Further research is required to elucidate TLR expression patterns and their role in KA development.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141396920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0