A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?

Summary Answer: Our findings revealed a significant association between SPGF and the gene and identified three novel genes (, , and ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.

What Is Known Already: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants.

Nutritional status and changes in muscle and adipose tissue determined by computed tomography as predictors of mortality in hospitalized patients.

The aim of the present study was to investigate whether nutritional status and changes in muscle and adipose tissue determined by computed tomography are predictors of mortality in hospitalized patients. This was a prospective cohort study involving patients ≥ 20 years of age hospitalized in a public hospital. Sociodemographic and clinical variables were collected from electronic medical records.

Analysis of the Survival of Patients Transplanted for Hepatocarcinoma According to Age at Transplantation.

In recent years, the age at which liver transplantation is considered indicated has been extended. Currently, age alone is not a contraindication for liver transplantation. Studies are being carried out that reflect the increased survival and similar technical success of transplantation in these patients compared to younger patients.

Budget impact analysis of TPMT and NUDT15 pharmacogenomic testing for 6-mercaptopurine in pediatric acute lymphoblastic leukemia patients.

Background: Pharmacogenomic testing identifies gene polymorphisms impacting drug metabolism, aiding in optimizing treatment efficacy and minimizing toxicity, thus potentially reducing healthcare utilization. 6-Mercaptopurine metabolism is affected by thiopurine methyltransferase (TPMT) and nudix hydrolase 15 (NUDT15) polymorphisms. We sought to estimate the budget impact of preemptive pharmacogenomic testing for these genes in pediatric acute lymphoblastic leukemia (ALL) patients from an institutional perspective.

Cladribine use trend in Latin America: the changes in patient profile impact in the drug effectiveness.

Introduction: Cladribine was approved for Multiple Sclerosis (MS) in our country in 2018. A previous study by our group showed that its use among high efficacy therapies options has been increasing along the years.

Objective: to analyze the cladribine use trend across time since its approval.