Tag: #GeneticTesting
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DNA Solves Mortuary Mix Up in Ghan Forensic Science Brings Closure to Bereaved Families
Introduction In a compelling forensic case from Ghana, DNA technology played a pivotal role in identifying three exhumed human remains that had been mistakenly handed over to grieving families. This study, conducted by forensic experts from the Ghana Police Service and academic institutions, underscores the importance of genetic analysis in resolving complex identification cases.Visit https://www.forensicscijournal.com/…
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Early Growth Delay in Pregnancy A Critical Clue to Detecting Triploidy in the First Trimester
Introduction Triploidy, a severe chromosomal abnormality, often results in early pregnancy loss and maternal health complications. A recent case report highlights the potential of first trimester fetal growth delay as a pivotal early indicator of this condition. The study emphasizes how early detection via ultrasound can aid in prompt diagnosis and informed clinical decisions.Visit https://www.obstetricgynecoljournal.com…
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Small Cell Carcinoma of the Ovary with Hypercalcemia A Case Report and Literature Review
Introduction: Small cell carcinoma of the ovary with hypercalcemia (SCCOHT) is a rare and aggressive ovarian cancer that primarily affects young women. This case report discusses a 23-year-old patient diagnosed with SCCOHT and successfully treated with surgery and chemotherapy, offering hope for a disease that typically has a poor prognosis. For further groundbreaking research in…
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Unlocking the Potential of Multigene Parallel Sequencing: A Concomitant Germline RET and BRCA1 Mutation in a Hereditary Medullary Thyroid Carcinoma
Introduction: Multigene parallel sequencing has revolutionized genetic diagnostics, enabling early identification of hereditary cancer syndromes. A recent study highlights a rare case of a 33-year-old woman diagnosed with multifocal medullary thyroid carcinoma, carrying concurrent pathogenic mutations in the RET and BRCA1 genes. This discovery underscores the importance of genetic testing in precision medicine. Visit https://www.clinmedcasereportsjournal.org/acr…
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Understanding X-Linked Hypophosphatemia: A Multidisciplinary Approach to a Rare Condition
IntroductionX-Linked Hypophosphatemia (XLH) is a rare genetic disorder that causes phosphate-wasting, leading to severe bone deformities, musculoskeletal pain, and other systemic complications. This case study explores the burden of XLH in a single family and highlights the importance of a multidisciplinary treatment approach. Visit https://www.clinmedcasereportsjournal.org/acr for more groundbreaking research in this field. Case Study OverviewA…
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A Case of FSGS Diagnosis Through Kidney Biopsy
Introduction Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a prevalent genetic disorder, affecting approximately 6% of kidney failure cases. While proteinuria is uncommon in ADPKD, significant proteinuria warrants further investigation to exclude coexisting glomerular diseases. This case highlights the challenges and diagnostic approach to a patient with ADPKD and nephrotic-range proteinuria. Visit Journal of Clinical…
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