Zobrazeno 1 - 10
of 1 155
pro vyhledávání: '"generalized lipodystrophy"'
Autor:
Nivedita Patni, Craig Chard, David Araújo-Vilar, Helen Phillips, David A. Magee, Baris Akinci
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Lipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information describing the experiences
Externí odkaz:
https://doaj.org/article/e797b6f4aab84c6e8ee22d247b480f80
Autor:
Maya Weitzen, Marcus DaSilva Goncalves, Shaheer Khan, Alexander Barbaro, Richard Carvajal, Keyur Thakar
Publikováno v:
Current Problems in Cancer: Case Reports, Vol 16, Iss , Pp 100332- (2024)
This case report details a 65-year-old female with Hashimoto's hypothyroidism and stage III melanoma who developed acquired generalized lipodystrophy (AGL), a rare immune-mediated adverse event, following pembrolizumab treatment. The patient was init
Externí odkaz:
https://doaj.org/article/511f0828b6b84020872a51113dc74de4
Autor:
Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have ana
Externí odkaz:
https://doaj.org/article/75ef611592ac46869fbc423ec526ad5f
Autor:
Takayoshi Sasako, Ken Suzuki, Sara Odawara, Hirotsugu Suwanai, Naoko Akuta, Naoto Kubota, Kohjiro Ueki, Takashi Kadowaki, Toshimasa Yamauchi
Publikováno v:
Journal of Diabetes Investigation, Vol 15, Iss 6, Pp 782-785 (2024)
ABSTRACT The potential liability to hypercatabolism in lipodystrophy remains to be fully elucidated. Here we report a 28‐year‐old Japanese woman with acquired generalized lipodystrophy, who presented with recurrence of panniculitis and anemia. Af
Externí odkaz:
https://doaj.org/article/87fa652789394e52b655150cfa585357
Akademický článek
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Akademický článek
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Autor:
Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Ozbek
Publikováno v:
JCRPE, Vol 15, Iss 3, Pp 329-333 (2023)
Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has bee
Externí odkaz:
https://doaj.org/article/b651e69acbc8494fac0c0d6b3485c796
Publikováno v:
Zhenduanxue lilun yu shijian, Vol 21, Iss 05, Pp 592-597 (2022)
Objective: To explore the genotype and clinical phenotype of congenital generalized lipodystrophy type 1(CGL1), and to improve awareness of the disease. Methods: A patient with severe acanthosis nigricans was diagnosed as having CGL1, and the clinica
Externí odkaz:
https://doaj.org/article/98de95d9da9143a9a2f49f2b23b9675a
Akademický článek
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Publikováno v:
Journal of Patient-Reported Outcomes, Vol 6, Iss 1, Pp 1-13 (2022)
Abstract Background New treatments are being evaluated for lipodystrophy; however, limited information is available on the patient experience. Results of a prior patient panel showed that hunger and temperature-related symptoms were an issue for part
Externí odkaz:
https://doaj.org/article/681cefbd17674a17bef1b2e7abf3acc7