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Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.
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 PDFMalakoplakia Associated with Diarrhoea and Colonic Lesions After Rituximab Treatment.
Eur J Case Rep Intern Med
December 2024
Gastroenterology Department, Adan Hospital Kuwait, Hadiya, Kuwait.
Unlabelled: Malakoplakia is a rare granulomatous condition that occurs due to defective lysosomal digestion during phagocytosis and can mimic inflammatory bowel disease (IBD) or malignancies, particularly in immunosuppressed patients. We report the case of a 62-year-old male with IgG4-related orbitopathy, who developed persistent diarrhoea and colonic lesions 6 weeks after receiving rituximab therapy for nephrotic syndrome secondary to membranoproliferative glomerulonephritis. Colonoscopy revealed pancolitis with mucosal granularity, loss of vascular pattern, and small nodules, raising initial suspicion for IBD.
View Article and Find Full Text PDFDermoscopic findings in two cases of trichogerminoma.
J Dermatol
January 2025
Department of Dermatology, Faculty of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Trichogerminoma (TG) is a rare, benign, cutaneous adnexal tumor originating from the hair germ epithelium. It typically presents as an asymptomatic, slowly enlarging nodule predominantly on the head, face, or trunk. Despite its benign nature, precise diagnosis is crucial because of its potential to become malignant.
View Article and Find Full Text PDFOpen-label phase II clinical trial of orteronel (TAK-700) in metastatic or advanced non-resectable granulosa cell ovarian tumors: the Greko II study (GETHI2013-01).
Clin Transl Oncol
December 2024
HM CIOCC MADRID (Centro Integral Oncológico Clara Campal), Laboratorio de Innovación en Oncología, Instituto de Investigación Sanitaria HM Hospitales, Oña Street 10, 28050, Madrid, Spain.
Background: Granulosa cell ovarian tumors (GCTs) are a rare neoplasia characterized by a pathognomonic mutation in the FOXL2 gene. In vitro studies have demonstrated an overactivation of hormone activity due to this alteration. Thus, we aimed to determine the activity of orteronel, a CYP17 inhibitor, in advanced disease.
View Article and Find Full Text PDF[Difficulties in lifetime diagnosis of Creutzfeldt-Jakob disease].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Siberian State Medical University, Tomsk, Russia.
Creutzfeldt-Jakob disease (CJD) is a classic representative of the group of prion diseases and is characterized by progressive degeneration of the structures of the nervous system with a variety of neurological symptoms, steady progression and inevitable death. The disease is based on a change in the tertiary structure of the protein, which leads to disruption of the normal functioning of cells. Despite the fact that the etiology and pathogenesis of CJD are now well studied, intravital diagnosis of this serious disease remains difficult due to the peculiarities of the pathological process (unusually long incubation period, variety of clinical symptoms), the lack of pathognomonic markers that make it possible to make a diagnosis with a high degree of confidence, and also insufficient awareness of medical workers.
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