Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4 ‐related arteriopathy

Autor: Genevieve M. Gabb, Leonard F Arnolda, Peter H. Byers, Nadia Clare Wise, John P. Slavotinek, Steven A. J. Chamuleau, E. Haan, Dimuth N. Gunawardane, Francois H. Chamalaun, Ulrike Schwarze

Publikováno v: American journal of medical genetics. Part A, 185(7), 2180-2189. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 185(7), 2180-2189. Wiley-Liss Inc.

A 57-year-old man with a family history of aortic aneurysm was found, during assessment of unexplained fever, to have an infrarenal aortic aneurysm requiring immediate repair. Dilatation of popliteal and iliac arteries was also present. Progressive a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aed35e059e212588bf29cb99e338b0e7
https://doi.org/10.1002/ajmg.a.62218

Isolated Mesenteric Calciphylaxis With Ischemic Colitis in a Hemodialysis Patient Without Active Cutaneous Calciphylaxis: A Case Report of Calcific Uremic Arteriolopathy

Autor: Caroline Milton, Rachel Yi Ping Tan, Rajiv Juneja, Dimuth N. Gunawardane

Publikováno v: Kidney Medicine
Kidney Medicine, Vol 2, Iss 2, Pp 209-212 (2020)

Calciphylaxis, also known as calcific uremic arteriolopathy, is a devastating systemic disease most commonly associated with chronic kidney failure. Its hallmark histopathologic features of small-vessel calcification, intimal hyperplasia, and microth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5efd394ecbf632ac93f53beb3788ef
https://doi.org/10.1016/j.xkme.2019.12.005

Selected Case From the Arkadi M. Rywlin International Pathology Slide Club: Peritoneal Lipofuscinosis and Deciduosis in Pregnancy

Autor: Dimuth N. Gunawardane, Philip W. Allen

Publikováno v: Advances in anatomic pathology. 25(5)

Peritoneal lipofuscinosis is a very rarely recognized condition occurring during pregnancy characterized by brown pigmentation of the omentum and peritoneum, a decidual reaction and benign mesothelial cells. The iron negative pigment, which is likely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3d3a772e28aee97f97e4eeea747d13b
https://pubmed.ncbi.nlm.nih.gov/29727323

Selected Case From the Arkadi M. Rywlin International Pathology Slide Club

Autor: Philip W. Allen, Dimuth N. Gunawardane

Publikováno v: Advances in Anatomic Pathology. 22:331-334

A 50-year-old female had a hysterectomy and bilateral salpingo-oophorectomy for adenomyosis, uterine leiomyomas, ovarian and cervical endometriosis. Nine months later, organ imaging revealed a 43×74×52 mm, apparently malignant extraperitoneal mass

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93f1241f226a30e9ef6d62c4fb585752
https://doi.org/10.1097/pap.0000000000000081