We developed a CytoAccess laboratory management system based on the widely used Microsoft Access software to facilitate data processing, result reporting, and quality management for a full-service cytogenetics laboratory. The CytoAccess system consists of four functional modules. The data entry module is for logging in patient information. The result entry module is used to generate chromosome, fluorescent in situ hybridization (FISH), and array comparative genomic hybridization (aCGH) reports. The administrative module enables periodic monitoring of quality control and quality improvement (QA/QI) parameters and produces billing forms. The maintenance module allows users to update clinical demographics, report templates, code tables, and to refresh data links. We have integrated into this system over 15,000 chromosome and FISH results from prenatal, postnatal, and cancer cases for the past six years. This system is cost-effective, user-friendly, flexible in updating, and potentially adaptable for data mining.
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Cancer Invest
January 2025
Department of Pathology & Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
Accurate and timely diagnosis of t(9;22)-positive leukemias is vital to improving survival in pediatric patients. In low-resource settings, where healthcare disparities are exacerbated by limited resources, cost-effective and efficient diagnostic methods are essential for bridging these gaps and ensuring better outcomes. Among the diagnostic tools evaluated among 23 patients sample, RT-PCR demonstrated superior sensitivity (100%) and the shortest turnaround time (7 days), significantly outperforming FISH and karyotyping in both accuracy and timeliness.
View Article and Find Full Text PDFCirc Genom Precis Med
January 2025
Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia. (A.B., J.S., A.C., J.I.).
Background: Females with hypertrophic cardiomyopathy present at a more advanced stage of the disease and have a higher risk of heart failure and death. The factors behind these differences are unclear. We aimed to investigate sex-related differences in clinical and genetic factors affecting adverse outcomes in the Sarcomeric Human Cardiomyopathy Registry.
View Article and Find Full Text PDFFront Psychol
January 2025
Istituti Clinici Scientifici Maugeri IRCCS, Laboratory of Neuropsychology of Bari Institute, Bari, Italy.
Introduction: Cognitive symptoms are common in Parkinson's Disease (PD), and digital interventions like telerehabilitation other an accessible way to manage these symptoms. This study aimed to assess the effectiveness of a Home-Based Computerized Cognitive Training (HB-CCT) program in individuals with PD using a pilot randomized cross-over design.
Methods: Twenty-five participants (mean age 69.
Gynecol Oncol Rep
February 2025
People's Hospital of China Medical University, Department of Gynecology, People's Hospital of Liaoning Province, Shenyang, China.
Background: Keratoacanthoma is a relatively rare skin tumor, with vulvar keratoacanthoma being even more uncommon. Although the majority of keratoacanthomas exhibit a benign course, a subset of cases may show features of malignant potential, such as marginal invasion and recurrence.
Case: An 82-year-old female presented with a rapidly growing exophytic lesion on the left vulva, measuring 1.
Indian Dermatol Online J
December 2024
Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Pemphigus is an autoimmune blistering disorder characterized by the presence of intraepidermal blisters and erosions, primarily affecting the mucosa and/or skin. There are no established Indian guidelines for the management of pemphigus, and Western guidelines cannot be directly applied due to differences in clinicodemographic profiles, comorbidities, and resource limitations. These guidelines aim to provide Indian dermatologists with evidence-based and consensus-driven recommendations for the management of pemphigus vulgaris (PV) and pemphigus foliaceous (PF), taking into account the unique challenges posed by the Indian healthcare setting.
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