Publications by authors named "M J Galera"
Article Synopsis
- - The Brazilian Rare Diseases Network (RARAS) was established in 2020 to conduct a nationwide epidemiological survey on rare diseases (RDs) in Brazil, addressing the lack of comprehensive national data since the Comprehensive Care Policy for RDs began in 2014.
- - A total of 12,530 patients were surveyed, with a median age of 15 years; significant findings included that 63.2% had confirmed diagnoses, primarily of phenylketonuria, cystic fibrosis, and acromegaly, and average diagnostic delays lasting 5.4 years.
- - The majority of diagnoses and treatments were funded by the Public Health System, with notable rates of hospitalization (44.5%) and a mortality rate
Article Synopsis
- - Glomus tumors (GT) are rare tumors that originate from glomus bodies in the skin and play a role in regulating body temperature, with most being benign but some showing aggressive and malignant behavior.
- - Malignant glomus tumors can spread and respond poorly to standard chemotherapy, but certain cases have a mutation (BRAF V600E) that offers a potential treatment target.
- - This report highlights a case of a metastatic glomangiosarcoma with the BRAF V600E mutation that showed significant improvement after being treated with encorafenib and binimetinib.
Therapeutic potential of adipose derived stromal cells for major skin inflammatory diseases.
Front Med (Lausanne)
February 2024
Inflammatory skin diseases like psoriasis and atopic dermatitis are chronic inflammatory skin conditions continuously under investigation due to increased prevalence and lack of cure. Moreover, long-term treatments available are often associated with adverse effects and drug resistance. Consequently, there is a clear unmet need for new therapeutic approaches.
View Article and Find Full Text PDFIntroduction: Clear cell sarcoma (CCS) is a rare and aggressive soft tissue sarcoma. CCS is characterized by the translocation t(12;22) (q13;q12), involving the fusion of EWSR1 and ATF1 genes, and less frequently the fusion gene EWSR1-CREB1. Usually, CCSs are considered poorly responsive to conventional chemotherapy.
View Article and Find Full Text PDFObjective: To evaluate quality indicators of the Neonatal Screening Referral Service of the state of Mato Grosso (NSRS-MT) from 2005 to 2019.
Methods: Cross-sectional, retrospective, exploratory, descriptive, and observational study from 2005 to 2019. The following parameters were analyzed: age of newborns at the first collection, time between sample collection and arrival at the laboratory, time between the arrival and release of results and time between requesting the second sample and arrival at the NSRS.