A 66-year-old male patient with a thyroid and nasopharyngeal cancer history visited our hospital because of a positive fecal occult blood test. Total colonoscopy detected sessile or subpedunculated polyps in the ascending colon, sigmoid colon, and rectum. These polyps were endoscopically resected, and the rectal polyp was pathologically diagnosed as adenocarcinoma in adenoma and the others as adenomas. Additionally, multiple sessile lesions were revealed in the sigmoid colon and rectum. A complete gastrointestinal tract examination revealed multiple foci of glycogenic acanthosis in the esophagus, multiple sessile lesions in the stomach, multiple sessile lesions, clubbings (rod-shaped lesions), and venous malformations in the small bowel. Mucocutaneous examination indicated hemangiomas on the body trunk, patchy pigmentation on the glans penis, and keratotic papules in the inguinal region. The National Comprehensive Cancer Network diagnostic criteria for Cowden syndrome were used in this case. The patient met four major and two minor criteria;thus, Cowden syndrome was diagnosed. Moreover, the patient was had phosphatase and tensin homolog deleted on chromosome 10 gene mutation. This is the first reported case of metachronal triple cancers in a male patient with Cowden syndrome, and our results indicate the importance of cancer surveillance.
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http://dx.doi.org/10.11405/nisshoshi.121.489 | DOI Listing |
Ocul Immunol Inflamm
January 2025
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Purpose: To report a case of biopsy-proven sarcoidosis in a patient with panuveitis and a positive interferon-gamma release assay (IGRA) from a non-endemic tuberculosis (TB) country.
Methods: Case report.
Results: A 26-year-old male from the United Arab Emirates (UAE) presented with granulomatous panuveitis characterized by mutton-fat keratic precipitates, anterior chamber and vitreous cells, and retinal vasculitis.
Kaohsiung J Med Sci
January 2025
Department of Psychiatry, School of Medicine, Kaohsiung Medical University Kaohsiung, Taiwan.
Attention-deficit/hyperactivity disorder (ADHD) is a common psychiatric condition among children and adolescents, often associated with a high risk of psychiatric comorbidities. Currently, ADHD diagnosis relies exclusively on clinical presentation and patient history, underscoring the need for clinically relevant, reliable, and objective biomarkers. Such biomarkers may enable earlier diagnosis and lead to improved treatment outcomes.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Otolaryngol Head Neck Surg
January 2025
Department of Otolaryngology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Objective: To evaluate factors impacting access to and timing of surgery in patients with submucous cleft palate (SMCP) and velopharyngeal dysfunction (VPD).
Study Design: Retrospective cohort study.
Setting: Single academic medical center.
Otolaryngol Head Neck Surg
January 2025
Department of Otolaryngology-Head and Neck Surgery, McGill University Health Center, Montreal, Quebec, Canada.
Objective: Information technologies may enhance our traditional perioperative teaching by providing more comprehensive information beyond the clinical visit. This quality improvement study aims to assess whether the implementation of an animated surgical video improves caregiver satisfaction for children undergoing adenotonsillectomy.
Study Design: Prospective, single-blinded randomized-controlled trial was conducted between March 1 and October 1, 2023.
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