Zobrazeno 1 - 10
of 1 318
pro vyhledávání: '"birt–hogg–dubé syndrome"'
Autor:
Daiju Hu, Rui Wang, Jinli Liu, Xianmeng Chen, Xianliang Jiang, Jun Xiao, Jay H. Ryu, Xiaowen Hu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Although an increasing number of patients with Birt-Hogg-Dubé syndrome (BHD) are being recognized in China, clinical and genetic characteristics are not well-defined. In addition, revised diagnostic criteria for the Chinese popul
Externí odkaz:
https://doaj.org/article/bd56ac97281042f7b3f9fd2ff77dd73a
Publikováno v:
Journal of Family Medicine and Primary Care, Vol 13, Iss 5, Pp 2164-2167 (2024)
Birt–Hogg–Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterized by benign cutaneous lesions, lung cysts, and increased risk of spontaneous pneumothorax and renal cancer. We report a case of a young Indian boy with
Externí odkaz:
https://doaj.org/article/bfde168bce1d479d9a1083c0e079824f
Publikováno v:
BMC Pulmonary Medicine, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract We report a rare case of Sjogren’s syndrome complicated with Birt-Hogg-Dubé syndrome (BHDS) not previously mentioned in the literature. Further, there is insufficient evidence linking the two diseases. Here, we review existing diagnostic
Externí odkaz:
https://doaj.org/article/dc854bbec09945b68ca6af5e0037f846
Publikováno v:
Respirology Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Birt–Hogg–Dubé syndrome (BHD) is an inherited autosomal dominant condition caused by germline mutations in the FLCN gene, mapped to chromosome 17p11.2. Typical manifestations include pulmonary cysts, spontaneous pneumothorax, fibrofolli
Externí odkaz:
https://doaj.org/article/77cda1c04172403e93a5b1bc66ac29c8
Autor:
Kiyoshi Uemasu, Toru Nyunoya
Publikováno v:
Respirology Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Birt–Hogg–Dubé syndrome (BHD) typically does not manifest airway obstruction despite the presence of multiple lung cysts. However, the long‐term effects of cigarette smoking on lung function among individuals with BHD are unknown. We
Externí odkaz:
https://doaj.org/article/a6779260d5234b64909e93814537c062
Publikováno v:
Radiology Case Reports, Vol 18, Iss 10, Pp 3425-3433 (2023)
Ectopic salivary gland tissue is the presence of normal salivary gland tissue developing outside of the major and minor salivary glands. We present a rare, incidental case of lingual ectopic salivary gland tissue in a 52-year-old male with known Birt
Externí odkaz:
https://doaj.org/article/d55b5167cb9f4dd5a1c63ce041b53c32
Autor:
Yue Wang, Mengru Cai, Xianliang Jiang, Guangyu Lv, Daiju Hu, Guofeng Zhang, Jinli Liu, Wei Wei, Jun Xiao, Bing Shen, Jay H. Ryu, Xiaowen Hu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background The pathogenic variants responsible for Birt-Hogg-Dubé syndrome (BHDS) in folliculin (FLCN) gene mostly consist of point mutations. Although large intragenic deletions/duplications have been reported in several case reports, the
Externí odkaz:
https://doaj.org/article/30dbbecd2c164a96b5e3f96958b5407d
Publikováno v:
Cancer Biology & Therapy, Vol 24, Iss 1 (2023)
Birt–Hogg–Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN) that result in the functional loss of the tumor suppressor folliculin. It is classically associated with cutaneous hamarto
Externí odkaz:
https://doaj.org/article/dbd2b25e262f4e8aac7f01b0cb15ce92
Publikováno v:
Medical Sciences, Vol 12, Iss 1, p 12 (2024)
Familial kidney tumors represent a rare variety of hereditary cancer syndromes, although systematic gene sequencing studies revealed that as many as 5% of renal cell carcinomas (RCCs) are associated with germline pathogenic variants (PVs). Most insta
Externí odkaz:
https://doaj.org/article/4c547d2fb356451aaeef62f8ebd89e70
Publikováno v:
BMC Pulmonary Medicine, Vol 22, Iss 1, Pp 1-4 (2022)
Abstract Background Aspergillus tracheobronchitis (ATB) is confined as a condition of chronic superficial infection of tracheobronchial tree. Its diagnosis is difficult due to atypical manifestations and low detective rate of Aspergillus thus far. Ca
Externí odkaz:
https://doaj.org/article/a707192a202f4ed18e5c71e540459575