Extranodal Follicular Dendritic Cell Sarcoma Presenting on the Skin.

Follicular dendritic cell sarcoma is a rare intermediate-grade malignancy characterized by a proliferation of ovoid to spindle-shaped cells with morphologic and immunophenotypic features similar to normal follicular dendritic cells. It may develop in lymph nodes or extranodal sites. Its presentation in extranodal tissues is a diagnostic challenge.

Chilean consensus by expert panel using the Delphi technique for primary and secondary prevention of gastric cancer.

Introduction: Gastric cancer (GC) is the first cause of cancer-related death in Chile and 6 in Latin America and the Caribbean (LAC). Helicobacter pylori (H. pylori) is the main gastric carcinogen, and its treatment reduces GC incidence and mortality.

Over 50% of self-reported burnout among Latin American orthopaedic surgeons: A cross-sectional survey on prevalence and risk factors.

Objective: Assess the prevalence of self-reported burnout and identify risk and protective factors based on demographic and life quality aspects, among Latin American orthopaedic surgeons.

Methods: This study employed a cross-sectional analytical design. An original design survey was developed using multiple-choice and Likert-scale questions to gather self-reported burnout, demographic, work-related, social, personal, and mood-related data.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs), conferring a predisposition to life-threatening COVID-19 pneumonia. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52/IκBδ).

Application of the Team Emergency Assessment Measure Scale in undergraduate medical students and interprofessional clinical teams: validity evidence of a Spanish version applied in Chile.

Background: Teamwork is one of the competencies necessary for physicians to work effectively in health systems and is a competency that can be developed with simulation in professionals and medicine students. The Team Emergency Assessment Measurement (TEAM) was created to evaluate the non-technical performance of team members during resuscitation events in real teams. The TEAM scale includes items to assess leadership, teamwork, situational awareness, and task management.

PCRRT-ICONIC critical care pediatric nephrology course: the global prevalence of COVID-19 and associated sequelae.

After nearly three years of the COVID-19 pandemic, research has affirmed that COVID-19 is more than just a respiratory virus. There have been significant breakthroughs made surrounding the development of acute kidney injury (AKI) and chronic kidney disease (CKD), in pediatric populations. Additionally, patient populations susceptible to renal complications consist of pediatric transplant recipients, multisystem inflammatory syndrome (MIS-C), and dialysis.

Disparities in Stroke Incidence Over Time by Sex and Age in Latin America and the Caribbean Region 1997 to 2021: A Systematic Review and Meta-Analysis.

Background High-income country studies show unfavorable trends in stroke incidence (SI) in younger populations. We aimed to estimate temporal change in SI disaggregated by age and sex in Latin America and the Caribbean region. Methods and Results A search strategy was used in MEDLINE, WOS, and LILACS databases from 1997 to 2021, including prospective population-based observational studies with first-ever stroke incidence in Latin America.

De-escalating therapy in inflammatory bowel disease: Results from an observational study in clinical practice.

Background And Objectives: Combination therapy with an immunomodulator (IMM) and an anti-TNF is commonly recommended in Crohn's disease (CD) and ulcerative colitis (UC) patients. However, little is known about relapse rates after therapeutic de-escalation. This study aimed to evaluate the risk of relapse in a cohort of UC and CD patients with long-standing clinical remission after discontinuation of IMM or anti-TNF and to identify predictive factors for relapse.

The Effect of Volitional Preemptive Abdominal Contraction on Biomechanical Measures During A Front Versus Back Loaded Barbell Squat.

Background: Weightlifting is growing in popularity among recreational and competitive athletes. The barbell back squat (BackS) is commonly included in these training programs, while the barbell front squat (FrontS) is commonly performed as a component of other lifts such as the power clean or clean and jerk, it is less commonly practiced in isolation.

Hypothesis/purpose: The purpose of this study was to examine the effects of VPAC performance on trunk muscle and LE biomechanical responses during loaded BackS versus FrontS in healthy subjects.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40-50% of patients with 22q11.2 deletion syndrome (22q11.2DS).

"Truffle sign". A suspicious malignant pattern of lymphadenopathies in children observed on ultrasound. Preliminary study.

Background: The differential diagnosis of lymphadenopathies in children including benign and malignant conditions is often difficult to identify by ultrasound (US). The lymphadenopathies in children are frequent and mostly benign, therefore it is essential to decide what patients should undergo further studies.

Objective: To describe the potential usefulness of a new suspicious ultrasound sign on pediatric lymphadenopathies that can orient the diagnosis of malignancy.

Dynamics of the MRSA Population in a Chilean Hospital: a Phylogenomic Analysis (2000-2016).

The global dissemination of methicillin-resistant Staphylococcus aureus (MRSA) is associated with the emergence and establishment of clones in specific geographic areas. The Chilean-Cordobes clone (ChC) (ST5-SCCI) has been the predominant MRSA clone in Chile since its first description in 1998, despite the report of other emerging MRSA clones in recent years. Here, we characterize the evolutionary history of MRSA from 2000 to 2016 in a Chilean tertiary health care center using phylogenomic analyses.

PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

PUF60-related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of PUF60, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed.

Genetics of spontaneous cervical and coronary artery dissections.

Objectives: Spontaneous cervical artery dissections (SCeAD) and coronary artery dissections (SCoAD) are major causes of neurovascular and cardiovascular morbidity in young adults. Although multiple aspects of their etiology are still unknown, most consensuses are focused on the presence of constitutional genetic aspects and environmental triggers. Since recent evidence of genetic contribution points to a possible overlap between these conditions, we aimed to describe current information on SCeAD and SCoAD genetics and their potential shared pathological aspects.

Electrophysiological Characterization of a Variant with Tremor Phenotype.

Background: The concept of a myopathy with associated tremor ("myogenic tremor") in humans has been previously described for specific (Myosin-Binding Protein C) variants. Here we report for the first time an individual with tremor who was found to have a de-novo likely pathogenic variant in Myosin Heavy Chain 7 (MYH7

Unlabelled: We provide a detailed electrophysiological characterization of the tremor syndrome in a human individual with a myopathy and this pathogenic MYH7 variant to provide further insight in the phenotypic spectrum and pathomechanism of myogenic tremors in skeletal sarcomeric myopathies.

Methods: Electromyographic recordings were obtained from facial muscles, as well as bilateral upper and lower extremities.

Association between spontaneous internal carotid artery dissection and perivascular adipose tissue attenuation on computed tomography angiography.

Background: Spontaneous cervical artery dissection (sCAD) is a leading cause of ischemic stroke in young patients. Studies using high-resolution magnetic resonance imaging and positron emission tomography have suggested vessel wall inflammation to be a pathogenic factor in sCAD. Computed tomography (CT) attenuation of perivascular adipose tissue (PVAT) is an established non-invasive imaging biomarker of inflammation in coronary arteries, with higher attenuation values reflecting a greater degree of vascular inflammation.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS).

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS).

Seroprevalence of Natural and Acquired Immunity against the SARS-CoV-2 Virus in a Population Cohort from Two Chilean Cities, 2020-2022.

Background: Chile has achieved the highest coverage for vaccines against the SARS-CoV-2 virus worldwide.

Objective: To assess the progression of immunity (natural and acquired by vaccine) in a cohort from two Chilean cities.

Methods: Individuals ( = 386) who participated in three phases of population-based serial prevalence studies were included (2020-2021 and 2022).

Simultaneous medial unicompartmental knee replacement and anterior cruciate ligament reconstruction: a narrative review and technical note.

Background And Objective: Reconstruction of the anterior cruciate ligament (ACL) simultaneously with medial unicompartmental knee arthroplasty (UKA) has been suggested as an alternative treatment in patients with ACL deficiency and localized osteoarthritis (OA) in young patients. The objectives of this review were to report the current concepts on the topic and describe an original surgical technique of simultaneous medial UKA and ACL reconstruction.

Methods: A literature search was performed on PubMed, including articles written in English until June 2021.

Modulation of the biophysical and biochemical properties of collagen by glycation for tissue engineering applications.

The structural and functional properties of collagen are modulated by the presence of intramolecular and intermolecular crosslinks. Advanced Glycation End-products (AGEs) can produce intermolecular crosslinks by bonding the free amino groups of neighbouring proteins. In this research, the following hypothesis is explored: The accumulation of AGEs in collagen decreases its proteolytic degradation rates while increasing its stiffness.

Stroke in Latin America: Systematic review of incidence, prevalence, and case-fatality in 1997-2021.

Background: Stroke is a major global cause of death and disability. Most strokes occur in populations of low-middle-income country (LMIC); therefore, the subsequent disease burden is greater than in populations of high-income countries. Few epidemiological data exist for stroke in Latin America, composed primarily of LMIC.