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Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study.
Eur Clin Respir J
January 2025
Department of Respiratory Medicine, Odense University Hospital, Odense, Denmark.
Background: Birt-Hogg-Dubé syndrome (BHD), a rare genetic disease characterized by multiple pulmonary cysts, can lead to spontaneous pneumothorax, cutaneous hamartomas, renal cysts, and renal cell cancer. The overall aim of this study was to assess clinical characteristics of patients with BHD-emphasizing on trends in pulmonary function patterns.
Methods: By use of data from electronic patient journals, we conducted a retrospective cohort study on clinical characteristics and pulmonary function tests (PFT) from patients with BHD, who were clinically followed-up in a Danish tertiary referral center for rare and interstitial lung diseases.
Retinal capillary hemangioma in a pthisical globe: Late sequelae in a case of Von Hippel-Lindau (VHL) disease presenting with endophthalmitis.
Int J Surg Case Rep
January 2025
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address:
Introduction: Retinal capillary hemangioma (RCH) is a benign vascular hamartoma that can occur sporadically or as a manifestation of Von Hippel-Lindau (VHL) disease. If left untreated, it results in adverse ocular complications depending on its location and eventual visual loss.
Case Presentation: We present a 50-year-old man who was a known case of VHL with history of left eye vision loss in the left eye at the age of 30 years.
TSC complex decrease the expression of mTOR by regulated miR-199b-3p.
Sci Rep
January 2025
Key Laboratory of Chemical Biology and Molecular Engineering of National Ministry of Education, Institutes of Biomedical Sciences, Shanxi University, Taiyuan, 030006, China.
The TSC complex formed by TSC1 and TSC2 is the most important upstream negative regulator of mTORC1. Genetic variations in either TSC1 or TSC2 cause tuberous sclerosis complex (TSC) disease which is a rare autosomal dominant disorder resulting in impairment of multiple organ systems. In this study, besides a reported variation, c.
View Article and Find Full Text PDFA Pediatric Case of Multiple Bilateral Symmetric Eccrine Angiomatous Hamartoma.
Acta Dermatovenerol Croat
November 2024
Prof. Ilke Beyitler, Near East University, Faculty of Medicine, Near East Boulevard, Nicosia, Cyprus;
Eccrine angiomatous hamartoma (EAH) is a rare benign skin neoplasm characterized by an increased size and number of eccrine glands or ducts, along with proliferation of vascular structures in the dermis. This case is unique in its presentation of bilateral symmetrical nodules on both hands and the development of new nodules during puberty. It highlights the need for further research and understanding of this rare condition and its potential progression over time.
View Article and Find Full Text PDFClinical Characteristics of Ear Chondroid Syringoma: A Report of 2 Cases and a Literature Review.
Ear Nose Throat J
January 2025
Department of Otolaryngology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, P.R. China.
Chondroid syringoma, a mixed tumor of the skin, is an acquired hamartoma that differentiates into hair follicles, sebaceous glands, and apocrine sweat glands. Chondroid syringoma in the ear region is exceptionally rare. However, we present 2 cases of ear chondroid syringoma: 1 involving multiple lesions in the external auditory canal and the other including a single lesion behind the auricle.
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