Publications by authors named "Joaquin Garcia-Solorio"

Perry syndrome (PS) is a rare autosomal dominant disease characterized by parkinsonism, central hypoventilation, weight loss and depression and is caused by pathogenic mutations in the dynactin subunit 1 () gene (encoding p150 protein). To date, only two cases have been reported in Latin America, specifically in Colombia and Argentina. The present study, to the best of our knowledge, reports the first recorded Mexican family with PS.

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Article Synopsis
  • 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.
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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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