Analyzing the TotalSegmentator for facial feature removal in head CT scans.

Background: Facial recognition technology in medical imaging, particularly with head scans, poses privacy risks due to identifiable facial features. This study evaluates the use of facial recognition software in identifying facial features from head CT scans and explores a defacing pipeline using TotalSegmentator to reduce re-identification risks while preserving data integrity for research.

Methods: 1404 high-quality renderings from the UCLH EIT Stroke dataset, both with and without defacing were analysed.

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.

Risk profiles of common brachial plexus block sites: results from the net-ra registry.

Introduction: Regional anesthesia is frequently used for upper limb surgeries and postoperative pain control. Different approaches to brachial plexus blocks are similarly effective but may differ in the frequency and severity of iatrogenesis. We, therefore, examined large-scale registry data to explore the risks of typical complications among different brachial plexus block sites for regional anesthesia.

Implementation of the ProMisE classifier and validation of its prognostic impact in Brazilian endometrial carcinomas.

Purpose: Molecular classification of endometrial cancer (EC) has emerged as a key approach to individualize therapy and define prognostic outcomes. This study aimed to implement the traditional ProMisE classification in a Brazilian population, compared with a molecular setting of ProMisE biomarkers, and evaluate its impact on patients' prognosis.

Patient And Methods: A prospective cohort of 114 patients with primary EC treated at Barretos Cancer Hospital (BCH) between October 2020 and December 2022 was conducted.

Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Genomics Bioinformatician Body of Knowledge Steering Committee.

The use of next-generation sequencing (NGS) and other high-throughput technologies in the clinical molecular diagnostics laboratory requires the application of bioinformatics pipelines and other computational tools to analyze, visualize, and store these clinical data. Clinical Bioinformaticians, individuals with the skills to develop, validate, and deploy these tools in a clinical setting, are needed to ensure that these molecular diagnostic technologies can be appropriately used for clinical care. Building on existing expertise in informatics, NGS, and clinical molecular diagnostics, the Association for Molecular Pathology (AMP) has generated a series to establish an initial Clinical Bioinformatician Body of Knowledge.