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
• Algorithms MeSH
• Child MeSH
• Genetic Testing * methods   MeSH
• Humans MeSH
• Adolescent MeSH
• Mutation genetics   MeSH
• Dwarfism genetics   diagnosis   MeSH
• Consanguinity * MeSH
• Growth Disorders genetics   diagnosis   MeSH
• Child, Preschool MeSH
• Pedigree MeSH
• Exome Sequencing methods   MeSH
• Body Height genetics   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Iraq 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
• Algorithms MeSH
• Biomarkers MeSH
• Pancreatitis, Chronic * diagnosis   MeSH
• Endosonography methods   MeSH
• Pancreatic Function Tests methods   MeSH
• Humans MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Review 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
• Laboratories, Clinical MeSH
• Humans MeSH
• Surveys and Questionnaires MeSH
• Artificial Intelligence * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Europe 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
• Algorithms * MeSH
• Artifacts * MeSH
• Phantoms, Imaging * MeSH
• Calibration MeSH
• Humans MeSH
• Magnetic Resonance Imaging * methods   MeSH
• Brain diagnostic imaging   MeSH
• Image Processing, Computer-Assisted * methods   MeSH
• Reproducibility of Results MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article 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
• Algorithms MeSH
• Databases, Genetic MeSH
• Phenotype * MeSH
• Genomics * methods   MeSH
• Humans MeSH
• Software * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article 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
• Algorithms MeSH
• Time Factors MeSH
• Defibrillators, Implantable * MeSH
• Clinical Trials as Topic MeSH
• Middle Aged MeSH
• Humans MeSH
• Follow-Up Studies MeSH
• Aged MeSH
• Heart Failure * therapy   physiopathology   mortality   MeSH
• Remote Sensing Technology methods   MeSH
• Stroke Volume physiology   MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article 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
• Algorithms * MeSH
• Aorta * diagnostic imaging   MeSH
• Artifacts * MeSH
• Phantoms, Imaging MeSH
• Image Interpretation, Computer-Assisted methods   MeSH
• Intracranial Aneurysm diagnostic imaging   MeSH
• Humans MeSH
• Magnetic Resonance Imaging * methods   MeSH
• Brain diagnostic imaging   MeSH
• Computer Simulation MeSH
• Image Processing, Computer-Assisted * methods   MeSH
• Signal-To-Noise Ratio * MeSH
• Reproducibility of Results MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article 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
• Amphetamine pharmacology   MeSH
• Amygdala physiology   MeSH
• Hippocampus * physiology   MeSH
• Memory Consolidation * physiology   MeSH
• Rats MeSH
• Brain physiology   MeSH
• Neurons physiology   metabolism   MeSH
• Nucleus Accumbens * physiology   MeSH
• Reward * MeSH
• Memory physiology   MeSH
• Cues MeSH
• Prefrontal Cortex physiology   MeSH
• Mental Recall * physiology   MeSH
• Machine Learning MeSH
• Ventral Tegmental Area * physiology   MeSH
• Animals MeSH
• Check Tag
• Rats MeSH
• Male MeSH
• Animals MeSH
• Publication type
• Journal Article 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
• Pheochromocytoma * diagnostic imaging   MeSH
• Humans MeSH
• Adrenal Gland Neoplasms * diagnostic imaging   MeSH
• Paraganglioma * diagnostic imaging   MeSH
• Tomography, X-Ray Computed methods   MeSH
• Image Processing, Computer-Assisted methods   MeSH
• Radiomics MeSH
• Machine Learning MeSH
• Artificial Intelligence MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

AIMS: To present a new method of dynamic Purkinje-metry and to verify it by comparison with a commercially available anterior segment optical coherence tomography CASIA2. PATIENTS AND METHODS: A dynamic Purkinje-meter with a movable fixation target was assembled. A coaxial circular pattern formed by infrared LEDs was projected onto the eye and evoked Purkinje images (1st, 3rd, 4th = P1, P3, P4). The measurement was performed on 29 eyes with an implanted toric IOL (intraocular lens), under mydriatic conditions, with reference to the visual axis. The IOL tilt was calculated from the position of a fixation target at the moment of P3 and P4 superposition. The IOL decentration was determined based on the relative position of P1 during on-axis fixation and of P3 and P4 superposition during off-axis fixation. A custom-developed software was used for distance measurements. Using CASIA2, the IOL position was fully calculated by the device. RESULTS: The mean absolute difference between CASIA2 and Purkinje-meter values was 0.6° ± 0.4° for the tilt magnitude and 10° ± 10° for the tilt direction, and 0.11 mm ± 0.08 mm for the decentration magnitude and 16° ± 14° for the decentration direction. There was no statistically significant difference between the values determined by the two methods for the tilt and decentration direction. The differences were statistically significant for the tilt and decentration magnitude. CONCLUSION: The values of IOL tilt and decentration direction are similar for both devices. The values of IOL tilt and decentration magnitude measured by Purkinje-meter are higher than those from CASIA2, but overall, they correspond to the values presented in other published studies.

• MeSH
• Algorithms MeSH
• Middle Aged MeSH
• Humans MeSH
• Lenses, Intraocular * MeSH
• Tomography, Optical Coherence MeSH
• Optical Imaging * instrumentation   methods   MeSH
• Aged MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Clinical Trial MeSH
• Comparative Study MeSH