PURPOSE: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome, or panel sequencing data sets aligned to a GRCh37, GRCh38, or T2T reference genome. METHODS: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs. It uses these reads to determine whether an individual most likely has 0 functional copies of SMN1. RESULTS: We developed SMA Finder and evaluated it on 16,626 exomes and 3911 genomes from the Broad Institute Center for Mendelian Genomics, 1157 exomes and 8762 panel samples from Tartu University Hospital, and 198,868 exomes and 198,868 genomes from the UK Biobank. SMA Finder's false-positive rate was below 1 in 200,000 samples, its positive predictive value was greater than 96%, and its true-positive rate was 29 out of 29. Most of these SMA diagnoses had initially been clinically misdiagnosed as limb-girdle muscular dystrophy. CONCLUSION: Our extensive evaluation of SMA Finder on exome, genome, and panel sequencing samples found it to have nearly 100% accuracy and demonstrated its ability to reduce diagnostic delays, particularly in individuals with milder subtypes of SMA. Given this accuracy, the common misdiagnoses identified here, the widespread availability of clinical confirmatory testing for SMA, and the existence of treatment options, we propose that it is time to add SMN1 to the American College of Medical Genetics list of genes with reportable secondary findings after genome and exome sequencing.

• MeSH
• algoritmy MeSH
• exom genetika   MeSH
• genom lidský genetika   MeSH
• genomika metody   MeSH
• lidé MeSH
• protein přežití motorických neuronů 1 genetika   MeSH
• protein přežití motorických neuronů 2 genetika   MeSH
• sekvenční analýza DNA metody   MeSH
• sekvenování exomu MeSH
• spinální svalová atrofie * genetika   diagnóza   MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

PURPOSE: Genetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic testing algorithm for similar populations. METHODS: Among 280 SS referrals from 2018-2020, 64 children met inclusion criteria (from consanguineous families; height ≤ -2.25 SD), 51 provided informed consent (30 females; 31 syndromic SS) and underwent investigation, primarily via exome sequencing. Prioritized variants were evaluated by the American College of Medical Genetics and Genomics standards. A comparative analysis was conducted by juxtaposing our findings against published gene panels for SS. RESULTS: A genetic cause of SS was elucidated in 31 of 51 (61%) participants. Pathogenic variants were found in genes involved in the GH-IGF-1 axis (GHR and SOX3), thyroid axis (TSHR), growth plate (CTSK, COL1A2, COL10A1, DYM, FN1, LTBP3, MMP13, NPR2, and SHOX), signal transduction (PTPN11), DNA/RNA replication (DNAJC21, GZF1, and LIG4), cytoskeletal structure (CCDC8, FLNA, and PCNT), transmembrane transport (SLC34A3 and SLC7A7), enzyme coding (CYP27B1, GALNS, and GNPTG), and ciliogenesis (CFAP410). Two additional participants had Silver-Russell syndrome and 1 had del22q.11.21. Syndromic SS was predictive in identifying a monogenic condition. Using a gene panel would yield positive results in only 10% to 33% of cases. CONCLUSION: A tailored testing strategy is essential to increase diagnostic yield in children with SS from consanguineous populations.

• MeSH
• algoritmy MeSH
• dítě MeSH
• genetické testování * metody   MeSH
• lidé MeSH
• mladiství MeSH
• mutace genetika   MeSH
• nanismus genetika   diagnóza   MeSH
• pokrevní příbuzenství * MeSH
• poruchy růstu genetika   diagnóza   MeSH
• předškolní dítě MeSH
• rodokmen MeSH
• sekvenování exomu metody   MeSH
• tělesná výška genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Irák MeSH

This review provides a comprehensive update on the diagnostic approaches to chronic pancreatitis (CP), emphasizing recent advancements in imaging techniques, biomarker research, and multivariable scoring systems. Despite substantial progress in these areas, current diagnostic algorithms have limitations, particularly for early and non-calcific CP. Traditional criteria have focused on classic diagnostic signs, but "minimal change" CP is increasingly recognized through advanced imaging and function tests. This article aims to guide clinicians in applying current methods and available strategies for CP diagnosis and outline research efforts in the field.

• MeSH
• algoritmy MeSH
• biologické markery MeSH
• chronická pankreatitida * diagnóza   MeSH
• endosonografie metody   MeSH
• funkční testy pankreatu metody   MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

BACKGROUND: As the healthcare sector evolves, Artificial Intelligence's (AI's) potential to enhance laboratory medicine is increasingly recognized. However, the adoption rates and attitudes towards AI across European laboratories have not been comprehensively analyzed. This study aims to fill this gap by surveying European laboratory professionals to assess their current use of AI, the digital infrastructure available, and their attitudes towards future implementations. METHODS: We conducted a methodical survey during October 2023, distributed via EFLM mailing lists. The survey explored six key areas: general characteristics, digital equipment, access to health data, data management, AI advancements, and personal perspectives. We analyzed responses to quantify AI integration and identify barriers to its adoption. RESULTS: From 426 initial responses, 195 were considered after excluding incomplete and non-European entries. The findings revealed limited AI engagement, with significant gaps in necessary digital infrastructure and training. Only 25.6 % of laboratories reported ongoing AI projects. Major barriers included inadequate digital tools, restricted access to comprehensive data, and a lack of AI-related skills among personnel. Notably, a substantial interest in AI training was expressed, indicating a demand for educational initiatives. CONCLUSIONS: Despite the recognized potential of AI to revolutionize laboratory medicine by enhancing diagnostic accuracy and efficiency, European laboratories face substantial challenges. This survey highlights a critical need for strategic investments in educational programs and infrastructure improvements to support AI integration in laboratory medicine across Europe. Future efforts should focus on enhancing data accessibility, upgrading technological tools, and expanding AI training and literacy among professionals. In response, our working group plans to develop and make available online training materials to meet this growing educational demand.

• MeSH
• klinické laboratoře MeSH
• lidé MeSH
• průzkumy a dotazníky MeSH
• umělá inteligence * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

PURPOSE: The aim of this study was to develop a simple, robust, and easy-to-use calibration procedure for correcting misalignments in rosette MRI k-space sampling, with the objective of producing images with minimal artifacts. METHODS: Quick automatic calibration scans were proposed for the beginning of the measurement to collect information on the time course of the rosette acquisition trajectory. A two-parameter model was devised to match the measured time-varying readout gradient delays and approximate the actual rosette sampling trajectory. The proposed calibration approach was implemented, and performance assessment was conducted on both phantoms and human subjects. RESULTS: The fidelity of phantom and in vivo images exhibited significant improvement compared with uncorrected rosette data. The two-parameter calibration approach also demonstrated enhanced precision and reliability, as evidenced by quantitative T2*$$ {\mathrm{T}}_2^{\ast } $$ relaxometry analyses. CONCLUSION: Adequate correction of data sampling is a crucial step in rosette MRI. The presented experimental results underscore the robustness, ease of implementation, and suitability for routine experimental use of the proposed two-parameter rosette trajectory calibration approach.

• MeSH
• algoritmy * MeSH
• artefakty * MeSH
• fantomy radiodiagnostické * MeSH
• kalibrace MeSH
• lidé MeSH
• magnetická rezonanční tomografie * metody   MeSH
• mozek diagnostické zobrazování   MeSH
• počítačové zpracování obrazu * metody   MeSH
• reprodukovatelnost výsledků MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms. Here, we present Phenopacket Store. Phenopacket Store v.0.1.19 includes 6,668 phenopackets representing 475 Mendelian and chromosomal diseases associated with 423 genes and 3,834 unique pathogenic alleles curated from 959 different publications. This represents the first large-scale collection of case-level, standardized phenotypic information derived from case reports in the literature with detailed descriptions of the clinical data and will be useful for many purposes, including the development and testing of software for prioritizing genes and diseases in diagnostic genomics, machine learning analysis of clinical phenotype data, patient stratification, and genotype-phenotype correlations. This corpus also provides best-practice examples for curating literature-derived data using the GA4GH Phenopacket Schema.

• MeSH
• algoritmy MeSH
• databáze genetické MeSH
• fenotyp * MeSH
• genomika * metody   MeSH
• lidé MeSH
• software * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: To predict worsening heart failure hospitalizations (WHFHs), the HeartInsight multiparametric algorithm calculates a heart failure (HF) Score based on temporal trends of physiologic parameters obtained through automatic daily remote monitoring of implantable cardioverter-defibrillators (ICDs). OBJECTIVE: We studied the association of the baseline HF Score, determined at algorithm activation, with long-term patient outcomes. METHODS: Data from 9 clinical trials were pooled, including 1841 ICD patients with a preimplantation ejection fraction ≤35%, New York Heart Association class II/III, and no long-standing atrial fibrillation. The primary end point was a composite of death or WHFH. RESULTS: After a median follow-up of 631 days (interquartile range, 385-865 days), there were 243 WHFHs in 173 patients (9.4%) and 122 deaths (6.6%), 52 of which (42.6%) were cardiovascular. The primary end point occurred in 265 patients (14.4%). A multivariable time-to-first-event analysis showed that a high baseline HF Score (>23, as determined by a time-dependent receiver operating characteristics curve analysis) was significantly associated with the occurrence of the primary end point (adjusted hazard ratio [HR], 2.05; 95% confidence interval [CI], 1.54-2.71; P < .0001), all-cause death (HR, 2.37; CI, 1.56-3.58; P < .0001), cardiovascular death (HR, 2.19; CI, 1.14-4.22; P = .019), and WHFH (HR, 1.91; CI, 1.35-2.71; P = .0003). In a hierarchical event analysis of all-cause death as the outcome with highest priority and WHFHs as repeated event outcomes, the win ratio was 2.47 (CI, 1.89-3.24; P < .0001). CONCLUSION: Based on a retrospective analysis of clinical trial data with adjudicated events, baseline HF Score derived from device-monitored variables was able to stratify patients at higher long-term risk of death or WHFH.

• MeSH
• algoritmy MeSH
• časové faktory MeSH
• defibrilátory implantabilní * MeSH
• klinické zkoušky jako téma MeSH
• lidé středního věku MeSH
• lidé MeSH
• následné studie MeSH
• senioři MeSH
• srdeční selhání * terapie   patofyziologie   mortalita   MeSH
• technologie dálkového snímání metody   MeSH
• tepový objem fyziologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

PURPOSE: Dual velocity encoding PC-MRI can produce spurious artifacts when using high ratios of velocity encoding values (VENCs), limiting its ability to generate high-quality images across a wide range of encoding velocities. This study aims to propose and compare dual-VENC correction methods for such artifacts. THEORY AND METHODS: Two denoising approaches based on spatiotemporal regularization are proposed and compared with a state-of-the-art method based on sign correction. Accuracy is assessed using simulated data from an aorta and brain aneurysm, as well as 8 two-dimensional (2D) PC-MRI ascending aorta datasets. Two temporal resolutions (30,60) ms and noise levels (9,12) dB are considered, with noise added to the complex magnetization. The error is evaluated with respect to the noise-free measurement in the synthetic case and to the unwrapped image without additional noise in the volunteer datasets. RESULTS: In all studied cases, the proposed methods are more accurate than the Sign Correction technique. Using simulated 2D+T data from the aorta (60 ms, 9 dB), the Dual-VENC (DV) error 0.82±0.07$$ 0.82\pm 0.07 $$ is reduced to: 0.66±0.04$$ 0.66\pm 0.04 $$ (Sign Correction); 0.34±0.04$$ 0.34\pm 0.04 $$ and 0.32±0.04$$ 0.32\pm 0.04 $$ (proposed techniques). The methods are found to be significantly different (p-value <0.05$$ <0.05 $$ ). Importantly, brain aneurysm data revealed that the Sign Correction method is not suitable, as it increases error when the flow is not unidirectional. All three methods improve the accuracy of in vivo data. CONCLUSION: The newly proposed methods outperform the Sign Correction method in improving dual-VENC PC-MRI images. Among them, the approach based on temporal differences has shown the highest accuracy.

• MeSH
• algoritmy * MeSH
• aorta * diagnostické zobrazování   MeSH
• artefakty * MeSH
• fantomy radiodiagnostické MeSH
• interpretace obrazu počítačem metody   MeSH
• intrakraniální aneurysma diagnostické zobrazování   MeSH
• lidé MeSH
• magnetická rezonanční tomografie * metody   MeSH
• mozek diagnostické zobrazování   MeSH
• počítačová simulace MeSH
• počítačové zpracování obrazu * metody   MeSH
• poměr signál - šum * MeSH
• reprodukovatelnost výsledků MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

The formation of memories is a complex, multi-scale phenomenon, especially when it involves integration of information from various brain systems. We have investigated the differences between a novel and consolidated association of spatial cues and amphetamine administration, using an in situ hybridisation method to track the short-term dynamics during the recall testing. We have found that remote recall group involves smaller, but more consolidated groups of neurons, which is consistent with their specialisation. By employing machine learning analysis, we have shown this pattern is especially pronounced in the VTA; furthermore, we also uncovered significant activity patterns in retrosplenial and prefrontal cortices, as well as in the DG and CA3 subfields of the hippocampus. The behavioural propensity towards the associated localisation appears to be driven by the nucleus accumbens, however, further modulated by a trio of the amygdala, VTA and hippocampus, as the trained association is confronted with test experience. Moreover, chemogenetic analysis revealed central amygdala as critical for linking appetitive emotional states with spatial contexts. These results show that memory mechanisms must be modelled considering individual differences in motivation, as well as covering dynamics of the process.

• MeSH
• amfetamin farmakologie   MeSH
• amygdala fyziologie   MeSH
• hipokampus * fyziologie   MeSH
• konsolidace paměti * fyziologie   MeSH
• krysa rodu rattus MeSH
• mozek fyziologie   MeSH
• neurony fyziologie   metabolismus   MeSH
• nucleus accumbens * fyziologie   MeSH
• odměna * MeSH
• paměť fyziologie   MeSH
• podněty MeSH
• prefrontální mozková kůra fyziologie   MeSH
• rozpomínání * fyziologie   MeSH
• strojové učení MeSH
• tegmentum mesencephali - area ventralis * fyziologie   MeSH
• zvířata MeSH
• Check Tag
• krysa rodu rattus MeSH
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

The topic of the diagnosis of phaeochromocytomas remains highly relevant because of advances in laboratory diagnostics, genetics, and therapeutic options and also the development of imaging methods. Computed tomography still represents an essential tool in clinical practice, especially in incidentally discovered adrenal masses; it allows morphological evaluation, including size, shape, necrosis, and unenhanced attenuation. More advanced post-processing tools to analyse digital images, such as texture analysis and radiomics, are currently being studied. Radiomic features utilise digital image pixels to calculate parameters and relations undetectable by the human eye. On the other hand, the amount of radiomic data requires massive computer capacity. Radiomics, together with machine learning and artificial intelligence in general, has the potential to improve not only the differential diagnosis but also the prediction of complications and therapy outcomes of phaeochromocytomas in the future. Currently, the potential of radiomics and machine learning does not match expectations and awaits its fulfilment.

• MeSH
• feochromocytom * diagnostické zobrazování   MeSH
• lidé MeSH
• nádory nadledvin * diagnostické zobrazování   MeSH
• paragangliom * diagnostické zobrazování   MeSH
• počítačová rentgenová tomografie metody   MeSH
• počítačové zpracování obrazu metody   MeSH
• radiomika MeSH
• strojové učení MeSH
• umělá inteligence MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH