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A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region.
Front Genet
January 2025
The Affiliated Women's and Children's Hospital of Chengdu Medical College, Sichuan Provincial Woman's and Children's Hospital, Chengdu, China.
Introduction: Usually, patients with sY84 or sY86 deficiency present with azoospermia, but recent studies have shown that some males with partial AZFa deletions, including sY84 or sY86, exhibit normal fertility. Here, we reported a rare case of AZF deletion in a family, where both father and son exhibited a deletion at the sY86 site in the AZFa region and a partial deletion in the AZFc region.
Methods And Results: Detection was performed using classical multiplex polymerase chain reaction and the "Male AZF Full-region Detection" Panel, revealing specific deletions in AZFa: Yq11.
Exploring peripheral fluid biomarkers for early detection of Alzheimer's disease in Down syndrome: A literature review.
Heliyon
January 2025
Laboratory of Neurochemistry and Behaviour, Experimental Neurobiology Unit, University of Antwerp, Belgium.
People with Down Syndrome (DS) are at high risk of developing Alzheimer's disease dementia (AD) and cerebral amyloid angiopathy, which is a critical factor contributing to dementia in sporadic AD. Predicting and monitoring the decline and onset of dementia is a diagnostic challenge and of essence in daily care and support for people with DS. In this literature scoping review, we first summarize the different blood-based biomarkers for AD in DS.
View Article and Find Full Text PDFDefinition of a European pre-vasectomy scoring system to identify patients at risk of vasectomy regret.
Sex Med
December 2024
Department of Urology, Cliniques Saint-Jean, 1000 Bruxelles, Belgium.
Introduction: Vasectomy is a widely used, safe, effective method of permanent contraception and contributes to healthy sexuality.
Aims: We have conducted a 3-step observational clinical study to develop a vasectomy regret risk score and guide patients and clinicians when discussing a vasectomy.
Methods: A 3-step approach has been followed.
Translation of PET radiotracers for cancer imaging: recommendations from the National Cancer Imaging Translational Accelerator (NCITA) consensus meeting.
BMC Med
January 2025
Department of Oncology, University of Oxford, Oxford, UK.
Background: The clinical translation of positron emission tomography (PET) radiotracers for cancer management presents complex challenges. We have developed consensus-based recommendations for preclinical and clinical assessment of novel and established radiotracers, applied to image different cancer types, to improve the standardisation of translational methodologies and accelerate clinical implementation.
Methods: A consensus process was developed using the RAND/UCLA Appropriateness Method (RAM) to gather insights from a multidisciplinary panel of 38 key stakeholders on the appropriateness of preclinical and clinical methodologies and stakeholder engagement for PET radiotracer translation.
Advances in cancer genomics and precision oncology.
Genes Genomics
January 2025
Department of Smart Farm and Agricultural Industry, Kangwon National University, Chuncheon, 24341, Republic of Korea.
Background: Next-generation sequencing has revolutionized genome science over the last two decades. Indeed, the wealth of sequence information on our genome has deepened our understanding on cancer. Cancer is a genetic disease caused by genetic or epigenetic alternations that affect the expression of genes that control cell functions, particularly cell growth and division.
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