Background: We describe two case studies in the antenatal setting where human immunodeficiency virus (HIV) antibody results were discrepant in serial sera. Root cause analysis including genomic DNA fingerprinting was performed.
Objective: To analyze serial sera with HIV antibody discrepant results using genomic DNA "finger-printing" to determine whether the sera were from the same or different individuals.
Study Design: In case study 1, two serial sera with HIV antibody discrepant results, supposedly from a pregnant lady were subjected to root cause analysis. In case study 2, four serial sera 'from' a pregnant lady were subjected to root cause analysis. All sera were analyzed forensically using genomic DNA (gDNA) fingerprinting. In the case study 1, public health look-back exercise was done prior to forensic analysis unlike case study 2, when it was planned for later.
Results: Case study 1 gDNA results showed that both sera had identical genotypes and sex indicating that these were from the same individual and that the problem was within automated serum separator pipette syringe. Case study 2 gDNA analysis showed that the 3 of 4 sera were from three different unrelated females indicating an intentional sample mix-up.
Conclusions: Forensic gDNA "finger-printing" in diagnostic virology changed the direction of the investigations; one pointing to a laboratory issue and the other to an intentional deception by the patient. We recommend considering gDNA fingerprinting in any sample discrepancy investigation prior to any public health investigation. This is the first reported use of gDNA analysis in diagnostic virology.
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http://dx.doi.org/10.1016/j.jcv.2015.10.013 | DOI Listing |
Am J Hematol
January 2025
Division of Rheumatology, Mayo Clinic, Rochester, Minnesota, USA.
Am J Med Genet A
January 2025
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Primary Hypertrophic Osteoarthropathy (PHOAR1) is characterized by autosomal recessive loss of function variants in 15-hydroxyprostaglandin dehydrogenase (HPGD) leading to digital clubbing, periostosis, pachydermia, and severe hyperhidrosis. HPGD catalyzes the first step of prostaglandin E2 (PGE2) degradation. Selective COX-2 inhibitors have proved beneficial in adults, though it is unknown if early initiation of COX-2 inhibitors can alter the natural history of PHOAR1.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, Antalya, Türkiye.
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor () gene, leading to significant hypercalcemia and related complications.
Case Presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous mutation (c.242T>A; p.
Am J Nucl Med Mol Imaging
December 2024
Department of Nuclear Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan 430022, Hubei, China.
A 61-year-old male presented with hematemesis and melena. Biopsy and immunohistochemistry confirmed mucosa-associated lymphoid tissue (MALT) lymphoma in the posterior wall of the gastric antrum, prompting further evaluation with F-fluorodeoxyglucose (F-FDG) positron emission tomography/computed tomography (PET/CT). In addition to elevated uptake in the gastric antrum, F-FDG PET/CT showed diffuse uptake in multiple bone marrow, initially suspected to indicate bone marrow involvement by lymphoma.
View Article and Find Full Text PDFAm J Nucl Med Mol Imaging
December 2024
Department of Nuclear Medicine, Peking University First Hospital Beijing 100034, China.
Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a type of skin T-cell lymphoma with a favorable prognosis. Some patients may experience recurrence, but systemic involvement is rare. Some studies suggest that systemic progression is associated with poor prognosis.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!