Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomatous neoplasms in a variety of tissues and is associated with germline mutations in the PTEN gene. Cowden syndrome does not have increased risk of gastric malignancy; however, complications of benign neoplasm can occur. The authors report a case of a patient with Cowden Syndrome and with gastric polyps that caused severe morbidity and a surgical approach was indicated. An antrectomy with troncular vagotomy was performed with a Billroth I reconstruction. In this case, this was of paramount importance so the duodenum can be revisited.
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http://dx.doi.org/10.1093/jscr/rjab258 | DOI Listing |
Am J Case Rep
January 2025
Research Institute of Dentistry, Department of Integral Dental Clinics, University Center of Health Sciences, Universidad de Guadalajara, Guadalajara, Mexico.
BACKGROUND Cowden syndrome is a genetic disorder that predisposes individuals to cancer and is characterized by hamartomas derived from 3 germ layers. Although the clinical signs can be pathognomonic, diagnosis is often aided by biopsies, histopathological examination of oral and cutaneous lesions, and genetic studies, including multiple ligation-dependent probe amplification (MLPA). CASE REPORT We report a case of a 35-year-old woman who manifested with multiple lesions in the buccal mucosa, dorsum of the tongue, and gums, along with papillomatous papules on her facial skin and the dorsal surfaces of her hands.
View Article and Find Full Text PDFJ Am Med Inform Assoc
January 2025
Kennewick, WA 99338, United States.
Objective: This study evaluates the utility of word embeddings, generated by large language models (LLMs), for medical diagnosis by comparing the semantic proximity of symptoms to their eponymic disease embedding ("eponymic condition") and the mean of all symptom embeddings associated with a disease ("ensemble mean").
Materials And Methods: Symptom data for 5 diagnostically challenging pediatric diseases-CHARGE syndrome, Cowden disease, POEMS syndrome, Rheumatic fever, and Tuberous sclerosis-were collected from PubMed. Using the Ada-002 embedding model, disease names and symptoms were translated into vector representations in a high-dimensional space.
Rev Esp Anestesiol Reanim (Engl Ed)
December 2024
Servicio de Anestesiología, Reanimacióny Terapéutica del Dolor, Hospital Clínic de Barcelona, Barcelona, Spain.
Medicine (Baltimore)
December 2024
Department of Neurosurgery, The First Affiliated Hospital of Shihezi University, Shihezi, China.
Rationale: This study aims to present a case of cerebellar dysplastic ganglioneuroma, which is commonly referred to as Lhermitte-Duclos disease (LDD). Furthermore, the study aims to provide an extensive review of the essential aspects of LDD, thereby providing essential information for its accurate diagnosis and effective treatment.
Patient Concerns: A 54-year-old woman was admitted with symptoms of headache, facial numbness, and a visible cerebellar mass.
medRxiv
December 2024
Division of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Importance: A subset of thyroid cancers develops in a setting of a known hereditary cancer-associated syndrome. Understanding the population prevalence of thyroid cancer-associated syndromes is important to guide germline genetic testing and clinical management.
Objective: To estimate the prevalence of the major thyroid cancer-associated syndromes in the United States using the All of Us Research Program (AoU) data.
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