Treatment Patterns of Patients With Pulmonary Hypertension: A Descriptive Study in Colombia.

Introduction: Pulmonary hypertension (PH) is a chronic disease characterized by a progressive rise in pulmonary artery blood pressure. The objective was to describe the treatment patterns among ambulatory patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) in a real-world setting.

Methods: This is a longitudinal cohort follow-up study characterizing the treatment patterns of patients diagnosed with PAH or CTEPH, with secondary data from a population-based drug-dispensing database between 2022 and 2023, which includes sociodemographic, diagnosis, prescribing specialty, and treatment (drugs, persistence of use, and concomitant medications).

Frequency of Movement disorders in Peruvian Patients with Creutzfeldt-Jakob (P10-3.007).

Objective: To evaluate the frequency and type of movement disorders (MD) in patients with CJD from at tertiary hospital in Peru.

Background: Creutzfeldt-Jakob disease (CJD) is a rare, fatal, progressive neurodegenerative disease. It is characterized by cognitive impairment of subacute onset, rapid evolution, associated with behavioral symptoms, pyramidal signs, ataxia and movement disorders.

A forward genetic screen identifies potassium channel essentiality in SHH medulloblastoma maintenance.

Distinguishing tumor maintenance genes from initiation, progression, and passenger genes is critical for developing effective therapies. We employed a functional genomic approach using the Lazy Piggy transposon to identify tumor maintenance genes in vivo and applied this to sonic hedgehog (SHH) medulloblastoma (MB). Combining Lazy Piggy screening in mice and transcriptomic profiling of human MB, we identified the voltage-gated potassium channel KCNB2 as a candidate maintenance driver.

Telomere-based risk models for the early diagnosis of lung cancer.

Background: The objective of this study was to evaluate the use of telomere length measurements as diagnostic biomarkers during early screening for lung cancer in high-risk patients.

Methods: This was a prospective study of patients undergoing lung cancer diagnosis at two Spanish hospitals between April 2017 and January 2020. Telomeres from peripheral blood lymphocytes were analysed by Telomere Analysis Technology, which is based in high-throughput quantitative fluorescent in situ hybridization.

ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).