Croatian Medical Journal最新文献_第3页

Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing. 无脑畸形谱系的遗传原因：来自染色体微阵列和临床/全外显子组测序的见解。

IF 2.1 4区医学

Croatian Medical Journal Pub Date : 2026-06-15

Ana-Maria Meašić, Katarina Vulin, Adriana Bobinec, Leona Morožin Pohovski, Ivona Sansović, Morana Mikloš, Mijana Kero, Ana Tripalo Batoš, Ljubica Odak, Ingeborg Barišić

{"title":"Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.","authors":"Ana-Maria Meašić, Katarina Vulin, Adriana Bobinec, Leona Morožin Pohovski, Ivona Sansović, Morana Mikloš, Mijana Kero, Ana Tripalo Batoš, Ljubica Odak, Ingeborg Barišić","doi":"","DOIUrl":"","url":null,"abstract":"Aim: To determine the diagnostic yield of comprehensive genetic testing in patients with neuroimaging findings suggestive of lissencephaly spectrum disorders and to characterize novel pathogenic variants contributing to the genetic architecture of the spectrum.Methods: We reviewed clinical and genetic findings of 23 patients with neuroimaging features suspected of the lissencephaly spectrum who underwent genetic testing at the Children's Hospital Zagreb between 2016 and 2025. Clinical data were obtained from medical records and outpatient assessments by clinical geneticists. Genetic testing included chromosomal microarray, clinical exome sequencing, and whole-exome sequencing.Results: A molecular diagnosis was established in 15 of 23 patients (65.2%). The pathogenic variants involved genes related to microtubule function (DCX, TUBA1A, TUBB2B, DYNC1H1) and variants in transcriptional and regulatory genes (FOXG1, WDR62). Four novel (likely) pathogenic variants were detected in well-established lissencephaly genes (DCX, TUBA1A, FOXG1, and WDR62). Although most cases involved single-gene variants, three patients had pathogenic copy number variants (1q43q44, 22q11.21, and Xq22.3q23 deletions).Conclusion: Exome sequencing when used as a first-line test, complemented by chromosomal microarray, provides a high diagnostic yield in patients with lissencephaly spectrum disorders. This integrated approach facilitates precise diagnosis, informs prognosis, enables targeted follow-up, and supports comprehensive genetic counselling.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"67 3","pages":"144-155"},"PeriodicalIF":2.1,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13247733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148238958","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

When algorithms testify: artificial intelligence-driven DNA analysis, evidentiary standards, and criminal justice reform. 当算法作证时：人工智能驱动的DNA分析、证据标准和刑事司法改革。

IF 2.1 4区医学

Croatian Medical Journal Pub Date : 2026-06-15

Dragan Primorac, Damir Primorac, Andrej Bozhinovski

{"title":"When algorithms testify: artificial intelligence-driven DNA analysis, evidentiary standards, and criminal justice reform.","authors":"Dragan Primorac, Damir Primorac, Andrej Bozhinovski","doi":"","DOIUrl":"","url":null,"abstract":"Forensic DNA analysis has already influenced criminal justice, and serves as a powerful tool for both conviction and exoneration. Despite its scientific foundations and wide application, DNA evidence is vulnerable to interpretive errors, methodological limitations, and cognitive bias, as demonstrated by numerous wrongful convictions identified through the Innocence Project. Recent artificial intelligence (AI) methods, especially probabilistic genotyping, are used to support the interpretation of complex DNA samples, including mixed, low-template, and degraded profiles. However, the repeated utilization of AI-driven forensic analysis can lead to legal and ethical concerns, including procedural challenges in terms of its usability as direct evidence in the procedure. This article examines the implications of AI-based DNA interpretation for criminal justice, with particular attention to evidentiary reliability, due process, institutional accountability, and emerging policy responses in the US and Europe. It draws on parallels with clinical genomics and documented forensic applications of AI, and argues that AI can enhance forensic accuracy and fairness only if integrated within transparent, validated, and ethically governed frameworks that respect fundamental legal protections.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"67 3","pages":"203-218"},"PeriodicalIF":2.1,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13247746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148238952","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

Artificial intelligence enables scale, consistency, and rigor in forensic identity inference. 人工智能使法医身份推理的规模、一致性和严谨性成为可能。

IF 2.1 4区医学

Croatian Medical Journal Pub Date : 2026-06-15

Bruce Budowle, Stephen Newman, Nicole Jones, Misty Marra, Kristen Mittelman, David Mittelman

{"title":"Artificial intelligence enables scale, consistency, and rigor in forensic identity inference.","authors":"Bruce Budowle, Stephen Newman, Nicole Jones, Misty Marra, Kristen Mittelman, David Mittelman","doi":"","DOIUrl":"","url":null,"abstract":"Advances in forensic genomics, which include massively parallel sequencing, dense single nucleotide polymorphism testing, and forensic genetic genealogy (FGG), have greatly expanded the range of cases in which DNA evidence can generate investigative leads. As a result, the primary limitations in modern forensic DNA analysis are no longer analytical sensitivity or marker availability, but the ability to reason consistently, transparently, and at scale over increasingly complex genetic, genealogical, and contextual information. Current forensic workflows remain predominantly human-centered, relying on manual reasoning that is difficult to standardize, reproduce, document, or scale across growing case inventories. The potential of artificial intelligence (AI) is described as an enabling layer for forensic identity inference, defined here as computational decision-support systems that structure, prioritize, and document reasoning over genetic associations, genealogical structures, and investigative context during identity hypothesis development. While formal statistical inference quantifies evidentiary weight, identity inference governs how evidence is explored, combined, and acted upon during investigations. AI-assisted systems can augment, but not replace, expert judgment by supporting scalable prioritization, relational reasoning, and systematic documentation of analytical decisions, while reducing bias. Properly designed AI-enabled systems offer a path to sustainably scaling FGG while supporting scientific rigor, accountability, and public trust.","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"67 3","pages":"188-202"},"PeriodicalIF":2.1,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13247748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148238981","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

Healthcare professionals' views on training, standards, and resources for extracorporeal membrane oxygenation: a letter to the editor. 医疗保健专业人员对体外膜氧合的培训、标准和资源的看法：致编辑的一封信。

IF 2.1 4区医学