Background: Juvenile polyposis syndrome (JPS) is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the or gene. It often manifests with symptoms in children and adolescents and is infrequently diagnosed in asymptomatic adults. Establishing the diagnosis is important as patients with JPS have a high risk of developing gastrointestinal cancer and require genetic counselling and close routine follow-up.
Case Summary: We report on the case of a 56-year-old female diagnosed with JPS after genetic testing revealed a rare variant of the gene (p.Met470Thr). She was initially referred for colonoscopy by her general practitioner after testing positive on a screening faecal immunochemical test and subsequently found to have polyposis throughout the entire colorectum on her index screening colonoscopy. The patient was asymptomatic with a normal physical examination and no related medical or family history. Blood tests revealed only mild iron deficiency without anemia. To date, there has only been one other reported case of JPS with the same genetic variant. Subsequent colonoscopies were organised for complete polyp clearance and the patient was returned for surveillance follow-up.
Conclusion: JPS patients can present with no prior symptoms or family history. Genetic testing plays an important diagnostic role guiding management.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600688 | PMC |
http://dx.doi.org/10.4253/wjge.v15.i10.623 | DOI Listing |
Clin Chim Acta
December 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:
Background: It is known that the heavy metals cobalt and chromium are associated with neurotoxicity. Chromium (Cr) and Cobalt (Co) are both components of metal-on-metal (MoM) implants which can be degraded/fragmented and released into the bloodstream. Neurofilament Light Chain (NfL) is a neuron-specific protein that increases in serum following axonal damage.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Diabetes Center, Ohta Nishinouchi Hospital, Koriyama, Fukushima, Japan.
Pan Afr Med J
December 2024
Department of Surgery, Faculty of Medicine, Hasanuddin University, Hasanuddin University Hospital, Makassar, Indonesia.
Acute heart failure is associated with high hospitalization and mortality rates. A strong, independent risk factor for mortality in patients with heart failure is acute kidney injury, and the condition caused by this connection between disturbances in heart function and proper kidney functioning is cardiorenal syndrome (CRS). This case report discusses the role of continuous renal replacement therapy (CRRT) in the management of a CRS case with septic shock due to pneumonia.
View Article and Find Full Text PDFJ Esthet Restor Dent
December 2024
Analysis of Techniques, Material and Instruments Applied to Digital Dentistry and CAD/CAM Procedures Research Group, University Complutense of Madrid, Madrid, Spain.
Objective: This clinical case describes a multidisciplinary retreatment of a patient with anterior fixed dental prostheses (FDPs) using minimally invasive restorations and a biologically oriented preparation technique (BOPT).
Clinical Considerations: A 56-year-old female patient, treated 30 years ago with a metal-ceramic FDP due to dental agenesis, presented a misfit prosthesis at the gingival margin, black spaces, and food retention at the pontics. Notably, tooth number 2.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!