Publications by authors named "A M Cervera"
Article Synopsis
- The study explores the connection between Parkinson's disease (PD) and multiple sclerosis (MS), examining cases of individuals with the G2019S genetic variant associated with both conditions.
- Out of a research cohort, 1.4% of participants had MS develop before PD, and one case showed significant brain degeneration linked to PD without typical Lewy body formation.
- The findings suggest a complex interplay between immune dysfunction and these neurodegenerative diseases, indicating that MS may occur independently and prior to PD in certain genetic carriers.
REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years.
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- The study investigates genetic alterations in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL) in Mexican patients, focusing on their impact on prognosis and treatment.
- A total of 206 patients were analyzed, revealing a notable 21.8% prevalence of specific genetic profiles linked to poorer outcomes and indicating higher risk stratification among the affected.
- The findings suggest that these genetic markers significantly influence overall survival, with variations in mutation frequency compared to other populations, highlighting the need for genomic considerations in treatment strategies.
B-cell acute lymphoblastic leukemia (B-ALL) is one of the most common childhood cancers worldwide. Although most cases are sporadic, some familial forms, inherited as autosomal dominant traits with incomplete penetrance, have been described over the last few years. Germline pathogenic variants in transcription factors such as , and have been identified as causal in familial forms.
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