1,003 results match your criteria: "Clinica Alemana Universidad Del Desarrollo[Affiliation]"

This study aims to provide evidence that when testing cellulose paper modified with copper particles (CuPs), the particle size and the analysis method influence the antimicrobial activity observed by this material. Commercial CuPs of nanometric size (2.7 nm, CuNPs) and micrometric size (2.

View Article and Find Full Text PDF

Assessing muscle mass in critically ill patients remains challenging. This retrospective cohort study explores the potential of phase angle (PA°) derived from bioelectrical impedance analysis (BIA) as a surrogate marker for muscle mass monitoring by associating it with daily creatinine excretion (DCE), a structural and metabolic muscle mass marker. In 20 ICU patients, we observed a linear relationship between PA° and DCE at initial (S1) and follow-up (S2) points, with Rho values of 0.

View Article and Find Full Text PDF

Post hoc analyses of 9-valent human papillomavirus (9vHPV) vaccine immunogenicity were conducted in five Phase 3 studies that enrolled males. Month 7 antibody geometric mean titers (GMTs) after three 9vHPV vaccine doses were analyzed in 10,024 males/females aged 16-26 years from studies 001 (NCT00543543), 002 (NCT00943722), 003 (NCT01651949), and 020 (NCT02114385). Covariates considered were age, gender, sexual orientation, region of residence, and race.

View Article and Find Full Text PDF

Time to Recovery of Radial Nerve Palsy After Surgically Treated Humeral Shaft Fractures.

J Hand Surg Am

January 2025

Upper Extremity Unit, Orthopedic Surgery Department, Hospital del Trabajador, Santiago, Chile; Hand Surgery Unit, Orthopedic Department, Clinica Universidad de los Andes, Santiago, Chile.

Purpose: The purpose of this study was to report a timeframe for neurologic recovery of complete radial nerve palsies in patients with humeral shaft fractures treated with internal fixation.

Methods: We retrospectively analyzed the data of patients who underwent surgical treatment of a humeral shaft fracture between 2016 and 2021 at a level I trauma center. Patients with complete sensory and motor radial nerve palsy were identified.

View Article and Find Full Text PDF

The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression.

Int J Mol Sci

January 2025

Programa de Comunicación Celular en Cáncer, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.

DUX4 is typically a repressed transcription factor, but its aberrant activation in Facioscapulohumeral Muscular Dystrophy (FSHD) leads to cell death by disrupting muscle homeostasis. This disruption affects crucial processes such as myogenesis, sarcolemma integrity, gene regulation, oxidative stress, immune response, and many other biological pathways. Notably, these disrupted processes have been associated, in other pathological contexts, with the presence of connexin (Cx) hemichannels-transmembrane structures that mediate communication between the intracellular and extracellular environments.

View Article and Find Full Text PDF

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

View Article and Find Full Text PDF

Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.

View Article and Find Full Text PDF

MET Exon 14 Skipping and Novel Actionable Variants: Diagnostic and Therapeutic Implications in Latin American Non-Small-Cell Lung Cancer Patients.

Int J Mol Sci

December 2024

Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.

Targeted therapy indications for actionable variants in non-small-cell lung cancer (NSCLC) have primarily been studied in Caucasian populations, with limited data on Latin American patients. This study utilized a 52-genes next-generation sequencing (NGS) panel to analyze 1560 tumor biopsies from NSCLC patients in Chile, Brazil, and Peru. The RNA sequencing reads and DNA coverage were correlated to improve the detection of the actionable exon 14 skipping variant (METex14).

View Article and Find Full Text PDF

Latin Americans have a rich genetic make-up that translates into heterogeneous fractions of the autosomal genome in runs of homozygosity (F) and heterogeneous types and proportions of indigenous American ancestry. While autozygosity has been linked to several human diseases, very little is known about the relationship between inbreeding, genetic ancestry, and cancer risk in Latin Americans. Chile has one of the highest incidences of gallbladder cancer (GBC) in the world, and we investigated the association between inbreeding, GBC, gallstone disease (GSD), and body mass index (BMI) in 4029 genetically admixed Chileans.

View Article and Find Full Text PDF

Structural inequality, the uneven distribution of resources and opportunities, influences health outcomes. However, the biological embedding of structural inequality in aging and dementia, especially among underrepresented populations, is unclear. We examined the association between structural inequality (country-level and state-level Gini indices) and brain volume and connectivity in 2,135 healthy controls, and individuals with Alzheimer's disease and frontotemporal lobe degeneration from Latin America and the United States.

View Article and Find Full Text PDF

Purpose: To propose a methodology for integrating the out-of-field and imaging doses to the in-field dose received by radiotherapy (RT) patients. In addition, the impact of considering the total dose in planning and radiation-induced second malignancies (RISM) risk assessment will be evaluated in several scenarios comprising photon and proton treatments.

Methods: The total dose is the voxel-wise sum of the doses from the different radiation sources (accounting for the radiobiological effectiveness) produced during the whole RT chain.

View Article and Find Full Text PDF

Background: The effect of renal impairment in patients who receive intravenous thrombolysis for acute ischemic stroke (AIS) is unclear. We aimed to determine the associations of renal impairment and clinical outcomes and any modification of the effect of intensive versus guideline-recommended blood pressure (BP) control in the BP arm of the International Enhanced Control of Hypertension and Thrombolysis Stroke Study (ENCHANTED).

Methods: We conducted a analysis of the ENCHANTED BP arm, which involved 2,196 thrombolyzed AIS patients.

View Article and Find Full Text PDF

The third, stepped-wedge, cluster-randomized, Intensive Care Bundle with Blood Pressure Reduction in Acute Cerebral Hemorrhage Trial (INTERACT3), has shown that a goal-directed multi-faceted Care Bundle incorporating protocols for the management of physiological variables was safe and effective for improving functional recovery in a broad range of patients with acute intracerebral hemorrhage (ICH). The INTERACT3 Care Bundle included time- and target-based protocols for the management of early intensive lowering of systolic blood pressure (SBP, target <140mmHg), glucose control (target 6.1-7.

View Article and Find Full Text PDF

Lack of canonical activities of connexins in highly aggressive human prostate cancer cells.

Biol Res

December 2024

Centro de Biología Celular y Biomedicina CEBICEM, Facultad de Medicina y Ciencia, Universidad San Sebastián, Lota 2465, Providencia., Santiago, 7510156, Chile.

Connexins (Cxs) have the ability to form channels that allow the exchange of ions/metabolites between adjacent cells (gap junction channels, GJC) or between the intra- and extra-cellular compartments (hemichannels, HC). Cxs were initially classified as tumor suppressors. However, more recently, it has been shown that Cxs exert anti- and pro-tumorigenic effects depending on the cell and tissue context.

View Article and Find Full Text PDF

Human treponemal infections are caused by a family of closely related Treponema pallidum that give rise to the diseases yaws, bejel, pinta and, most famously, syphilis. Debates on both a common origin for these pathogens and the history of syphilis itself has weighed evidence for the "Columbian hypothesis", which argues for an American origin, against that for the "pre-Columbian hypothesis", which argues for presence of the disease in Eurasia in the Medieval period and possibly earlier. While molecular data has provided a genetic basis for distinction of the typed subspecies, deep evolution of the complex has remained unresolved due to limitations in the conclusions that can be drawn from the sparse paleogenomic data currently available.

View Article and Find Full Text PDF

Treating Niemann-Pick C lysosomal storage: approved and emerging approaches.

Trends Mol Med

December 2024

Department of Gastroenterology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

View Article and Find Full Text PDF

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions.

View Article and Find Full Text PDF

Advances in machine learning for tumour classification in cancer of unknown primary: A mini-review.

Cancer Lett

November 2024

Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago, Chile. Electronic address:

Article Synopsis
  • Cancers of unknown primary (CUP) are aggressive cancers where the origin remains unidentified, making treatment difficult and leading to poor outcomes.
  • Advances in large-scale sequencing and machine learning have opened up new pathways for diagnosing CUP by identifying specific genetic signatures, even from blood samples.
  • The review discusses the strengths and weaknesses of machine learning in classifying CUP tumors, emphasizing the need for improved strategies that integrate diverse data types to enhance diagnostic accuracy in clinical settings.
View Article and Find Full Text PDF

Background: COVID-19-related restrictions led to an increase in overall loneliness and social isolation. Before the pandemic, care partners reported higher levels of loneliness and higher loneliness prevalence compared to non-care partners. Because of the spread and severity of the infections, and the access to support spread, we expect a different impact of the COVID-19 pandemic on LATAM care partners.

View Article and Find Full Text PDF

Alcohol use disorder (AUD) represents a public health crisis with few FDA-approved medications for its treatment. Growing evidence supports the key role of the bidirectional communication between the gut microbiota and the central nervous system (CNS) during the initiation and progression of alcohol use disorder. Among the different protective molecules that could mediate this communication, short chain fatty acids (SCFAs) have emerged as attractive candidates, since these gut microbiota-derived molecules have multi-target effects that could normalize several of the functional and structural parameters altered by chronic alcohol abuse.

View Article and Find Full Text PDF

Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.

View Article and Find Full Text PDF
Article Synopsis
  • Latin America's genetic diversity offers a unique opportunity to study Alzheimer's disease (AD) and frontotemporal dementia (FTD), with a focus on identifying related genetic variations.
  • The study involved 2,162 participants from six countries who underwent extensive genomic sequencing and analysis to detect genetic factors linked to these dementias.
  • Results highlighted a mix of American, African, and European ancestries, discovered 17 pathogenic variants, and revealed specific genetic variations tied to AD and FTD inheritance patterns in affected families.
View Article and Find Full Text PDF

Background: Copy number variation (CNV) is a class of genomic Structural Variation (SV) that underlie genomic disorders and can have profound implications for health. Short-read genome sequencing (sr-GS) enables CNV calling for genomic intervals of variable size and across multiple phenotypes. However, unresolved challenges include an overwhelming number of false-positive calls due to systematic biases from non-uniform read coverage and collapsed calls resulting from the abundance of paralogous segments and repetitive elements in the human genome.

View Article and Find Full Text PDF