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The Surgical Odyssey: A Case Report on Rare Isolated Abdominal Wall Recurrence in an Adult Ovarian Granulosa Cell Tumor.
Cureus
November 2024
Plastic and Reconstructive Surgery, Amrita Institute of Medical Sciences, Kochi, IND.
A 50-year-old woman with a history of adult granulosa cell tumor (AGCT) of the right ovary was under follow-up after undergoing several surgeries, including a total abdominal hysterectomy with bilateral salpingo-oophorectomy. She was initially diagnosed eight years ago and remained disease-free for 52 months. However, she later experienced a recurrence, indicated by elevated inhibin B levels (58 ng/mL) and the presence of peritoneal soft tissue tumors.
View Article and Find Full Text PDFSynergistic Interactions among Vacuum, Solar Heating, and UV Irradiation Enhance the Lethality of Interplanetary Space.
Microorganisms
September 2024
Department of Plant Pathology, University of Florida, Gainesville, FL 32611, USA.
A Planetary Atmospheric Chamber (PAC) was used to create simulations of interplanetary conditions to test the spore survival of three spp. exposed to interacting conditions of vacuum (VAC), simulated solar heating (HEAT), and simulated solar ultraviolet irradiation (UV). Synergism was observed among the experimental factors for all three spp.
View Article and Find Full Text PDFCritical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
April 2024
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Background: A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wide. To aid in the interpretation and prioritization of the vast number of variants detected, computational methods are proliferating.
View Article and Find Full Text PDFImproving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
June 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX. Electronic address:
Purpose: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing.
Methods: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project.
Digital odyssey: lessons learnt from a reverse transition from a digital to a manual pathology workflow.
J Clin Pathol
May 2024
Unit of Pathology, Gravina Hospital, Caltagirone, Italy
In the fully digital Caltagirone pathology laboratory, a reverse shift from a digital to a manual workflow occurred due to a server outage in September 2023. Here, insights gained from this unplanned transition are explored. Surveying the affected pathologists and technicians revealed unanimous preferences for the time-saving and error-reducing capabilities of the digital methodology.
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