Publications by authors named "Melen Brinza"
Hemophilia A (HA) is an X-linked recessive bleeding disorder caused by mutations in the F8 gene, resulting in deficient or dysfunctional factor VIII (FVIII). This study aimed to characterize the mutational profile of HA in Romanian patients using next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA). A total of 107 patients were analyzed, revealing pathogenic or likely pathogenic variants in 96.
View Article and Find Full Text PDFTranslation, Cultural Adaptation, and Validation into Romanian of the Myeloproliferative Neoplasm Symptom Assessment Form-Total Symptom Score (MPN-SAF TSS or MPN-10) Questionnaire.
J Clin Med
June 2024
Article Synopsis
- A new Romanian version of the MPN Symptom Assessment Form Total Symptom Score (MPN-SAF TSS; MPN-10) was developed to evaluate quality of life (QoL) for patients with myeloproliferative neoplasms (MPNs), addressing their high symptom burden.
- *The study included 180 patients and revealed fatigue, inactivity, and concentration issues as the most problematic symptoms, with notable scoring differences among different MPN subtypes.
- *The Romanian MPN-10 demonstrated strong reliability and validity, indicated by high internal consistency (Cronbach's α = 0.855) and significant psychometric testing results, making it a trustworthy tool for assessing symptom burden and QoL in this patient
Article Synopsis
- Large intron inversions are a major genetic cause of severe hemophilia A, accounting for nearly 50% of cases worldwide, particularly in Romanian patients.
- In a study of 156 Romanian patients, intron 22 inversions were found in 41.7%, while intron 1 inversions were found in 3.2%, leading to a total of 44.9% with large intron inversions as the genetic defect.
- The research also indicates that patients with intron 1 inversion have a higher risk of developing inhibitors compared to those without any detected inversions.
The next frontier in hemophilia A management has arrived. However, questions remain regarding the broader applicability of new and emerging hemophilia A therapies, such as the long-term safety and efficacy of non-factor therapies and optimal regimens for individual patients. With an ever-evolving clinical landscape, it is imperative for physicians to understand how available and future hemophilia A therapies could potentially be integrated into real-life clinical practice to improve patient outcomes.
View Article and Find Full Text PDFMobile Health Technology for the Personalized Therapy of Hemophilia.
Front Med (Lausanne)
August 2021
The management of patients with hemophilia has evolved significantly since the first treatment attempts were made in the late 1930s. Since then, each new step in the treatment of patients with hemophilia has brought important advancements, as well as its unique set of challenges. Today, a patient-centered, individualized comprehensive approach is the new paradigm, moving away from the traditional "one size-fits-all" approach, to provide the best possible care for each patient with a bleeding disorder.
View Article and Find Full Text PDFArticle Synopsis
- Hemophilia A and B are genetic disorders linked to the X chromosome that result in improper blood clotting due to deficiencies in specific coagulation factors, leading to spontaneous bleeding after injuries.
- An individualized patient-centered approach to treatment is essential, taking into account factors like age, bleeding history, and personal goals, while recent innovations in diagnostics and therapies aim to enhance patient care.
- While recombinant factors are the current standard treatment despite short half-lives, extended half-life (EHL) factors and gene therapies show promise for better adherence and outcomes in future hemophilia management.
Hemophilia type A (HA) is the most common type of blood coagulation disorder. While the vast majority of cases are inherited and caused by mutations in the gene, recent data raises new questions regarding the non-heritability of this disease, as well as how other molecular mechanisms might lead to the development of HA or increase the severity of the disease. Some data suggest that miRNAs may affect the severity of HA, but for some patients, miRNA-based interference might cause HA, in the absence of an mutation.
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