Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study.

Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families with Madeira ancestry enrolled in our programme.

A Potential Link Between Prolonged Cork Exposure and Intestinal-Type Sinonasal Adenocarcinoma - Special Findings of a Retrospective Cohort Analysis.

Introduction: intestinal-type sinonasal adenocarcinoma (ITAC) is a rare epithelium tumor of the nasal cavities and paranasal sinuses. Exposure to wood and leather dusts is a strong etiological factor related to its development. Prolonged cork exposure has rarely been associated.

Challenges of New Approaches in Metastatic Merkel Cell Carcinoma.

Merkel cell carcinoma is a rare and aggressive cutaneous tumor, and the use of checkpoint inhibitors immunotherapy is a recent indication in its metastatic setting, both first and second line. However, the widespread use of immunotherapy is associated with an increase of acute and late immune-mediated adverse events. We present a case of an elderly fit patient with metastatic Merkel cell carcinoma treated with pembrolizumab who developed diabetic ketoacidosis, a severe immune-mediated adverse event.

[Severe Thrombocitopenia Induced by Fenofibrate].

Drug-induced thrombocytopenia is a common entity in clinical practice. However, having in consideration the severity of the case, it becomes imperative to distinguish non-immune thrombocytopenia from the po-tentially life-threatening immune-mediated forms. The authors report a rare clinical case of a 79-year-old man presenting with purpuric rash and gingival hemorrhage while on fenofibrate treatment (sixth day).

Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.

Background: Hereditary breast and ovary cancer syndrome affects both genders but little is known about the uptake of genetic services by men. The objective of this study is to characterise the male population counselled through a multidisciplinary breast/ovarian program.

Methods: Descriptive analysis of male patients counselled from January 2000 to December 2015.

Microscopic colitis: A literature review.

Microscopic colitis (MC) refers to chronic inflammation of the colon which is characterized by histologic changes at the level of a radiologically and endoscopically normal mucosa. It is a common cause of chronic non-bloody diarrhea that occurs primarily in older individuals; however, there are few studies in the literature with strong scientific evidence compared to other inflammatory bowel diseases (IBD), which limits the knowledge of physicians and pathologists. This article aims to review the information on MC, describing diagnostic methods and drugs available for treatment.

Nematoda of Kinosternon scorpioides (Testudines: Kinosternidae) from Northeastern Brazil.

The scorpion mud turtle (Kinosternon scorpioides) is a small freshwater turtle broadly distributed in South America and commonly consumed in some Brazilian regions. This study aimed to identify the species of helminths that parasitize the digestive tract of K. scorpioides and report infection parameters such as parasite prevalence, mean intensity of the infection, abundance, and the relationship between these nematodes and host body size in this species.

Unexpected long-term survival in a BRCA2 patient with metastatic carcinosarcoma associated with tamoxifen.

► This report concerns a long survival of a BRCA2 patient with a relapsing uterine carcinosarcoma. ► Rarity of long survivorship in relapsing carcinosarcoma is confirmed by literature review. ► BRCA2 status plus platinum-hypersensitivity as contributors for the favorable outcome, even if carcinosarcoma doesn't belong to the BRCA1/2 phenotype.

Synaptic vesicle trafficking and Parkinson's disease.

Presynaptic terminals maintain neurotransmitter release during repeated rounds of stimulation using local recycling of synaptic vesicles (SV). During each SV cycle, protein complex assembly and disassembly results in accumulation of inactive (unfolded) protein intermediates that may render synaptic terminals vulnerable to activity-dependent degeneration. SV trafficking is affected in many neurodegenerative conditions including Alzheimer' and Parkinson's disease (PD) suggesting that alteration of this process might be an important aspect of disease pathogenesis.