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Amyloidotic breast nodule in hereditary transthyretin amyloidosis (hATTR): a case report.
Amyloid
January 2020
i Department of Pathology, Hospital Universitari Bellvitge, Barcelona , Spain.
Amyloidosis of the Breast: Three Different and Unusual Presentations of a Rare Entity.
Pathobiology
August 2016
Department of Pathology, Hospital Clinic, University of Barcelona, Barcelona, Spain.
Background: Amyloidosis involving the breast is a rare finding and it may present as a solitary mass called 'amyloid tumor'. According to the largest case series, the amyloid deposits are usually of the AL type (commonly x03BA; light chain).
Methods: We report 3 cases diagnosed at our institution in the period from 2000 to 2015.
Secretion of DJ-1 into the serum of patients with Parkinson's disease.
Neurosci Lett
January 2008
Graduate School of Agriculture, Hokkaido University, Kita-ku, Sapporo 060-8589, Japan.
DJ-1 was initially identified by us as a novel oncogene and has later been found to be a causative gene for familial Parkinson's disease PARK7. DJ-1 plays role in transcriptional regulation and in oxidative stress function, and loss of its function is thought to be related to onset age, mode of progression and clinical severity of both familial and sporadic forms of Parkinson's disease (PD). DJ-1 is localized both in the cytoplasm and nucleus, and it has been reported to be secreted into the serum or plasma of patients with breast cancer, melanoma, familial amyloidotic polyneuropathy and stroke.
View Article and Find Full Text PDFSuccessful pregnancies and fatherhood in familial amyloidotic polyneuropathy (FAP Val30Met) patients with liver transplantation.
Amyloid
June 2004
Departments of Clinical Genetics and Medical Bioscience, Umeå University, Sweden.
For familial amyloidotic polyneuropathy (FAP) patients, several problems regarding reproduction are present. For males, erectile dysfunction and retrograde ejaculation are well known complications of the disease In addition, the risk of transferring a fatal disease to their offspring is a matter of concern for the patients. For transplanted fertile patients, the risk of side effects of immunosupression therapy causing congenital malformations must be addressed, and for female patients the additional risk of complications during pregnancy and delivery is a case of concern.
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