The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.

Background: The world has suffered immeasurably during the COVID-19 pandemic. Increased distress and mental and medical health concerns are collateral consequences to the disease itself. The Genes to Mental Health (G2MH) Network consortium sought to understand how individuals affected by the rare copy number variations of 22q11.

Physiology of Tremor Reduction by Putting the Hands Together in Essential Tremor.

Background: Essential tremor is a common movement disorder, characterized by 4-12 Hz tremor of the hands and arms that can affect many activities of daily living. It has been reported by patients that when performing tasks bimanually their tremor is reduced, but why this happens is unknown.

Objectives: We measured patients' tremors in different conditions when performed with 1 hand and 2 hands to observe if bimanual task performance changes the characteristics of the tremor.

Nanomechanical and Molecular Characterization of Aging in Dentinal Collagen.

Methylglyoxal (MGO) is an important molecule derived from glucose metabolism with the capacity of attaching to collagen and generating advanced glycation end products (AGEs), which accumulate in tissues over time and are associated with aging and diseases. However, the accumulation of MGO-derived AGEs in dentin and their effect on the nanomechanical properties of dentinal collagen remain unknown. Thus, the aim of the present study was to quantify MGO-based AGEs in the organic matrix of human dentin as a function of age and associate these changes with alterations in the nanomechanical and ultrastructural properties of dentinal collagen.

Increase in ADAR1p110 activates the canonical Wnt signaling pathway associated with aggressive phenotype in triple negative breast cancer cells.

Triple-negative breast cancer (TNBC) represents a challenge in the search for new therapeutic targets. TNBCs are aggressive and generate resistance to chemotherapy. Tumors of TNBC patients with poor prognosis present a high level of adenosine deaminase acting on RNA1 (ADAR1).

The effectiveness of different electrical nerve stimulation protocols for treating adults with non-neurogenic overactive bladder: a systematic review and meta-analysis.

Introduction And Hypothesis: Electrical nerve stimulation is a widely used treatment for overactive bladder but there is no consensus regarding the best placement of electrodes or protocols. We hypothesised that some non-implanted neurostimulation protocols would be more effective compared to others for treating urinary symptoms and improving quality of life among adults diagnosed with non-neurogenic overactive bladder.

Methods: A systematic review and meta-analyses of randomized clinical trials were performed in five electronic databases: PubMed/MEDLINE, Lilacs, CINAHL, Web of Science, and PEDro.

KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation.

Background: Here we combine clinical, electrophysiological, and genetic findings to phenotype an unusual childhood movement disorder in a patient with a rare form of KCNN2 mutation.

Case Report: A 10-year-old male presented with a clinical syndrome of tremor and myoclonus. Electrophysiology demonstrated muscle activity indicative of myoclonus dystonia, an observation that was not appreciated clinically.

Seroprevalence, spatial distribution, and social determinants of SARS-CoV-2 in three urban centers of Chile.

Background: Seroprevalence studies provide an accurate measure of SARS-CoV-2 spread and the presence of asymptomatic cases. They also provide information on the uneven impact of the pandemic, pointing out vulnerable groups to prioritize which is particularly relevant in unequal societies. However, due to their high cost, they provide limited evidence of spatial spread of the pandemic specially in unequal societies.

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

Objective: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of 'points to consider' to improve diagnosis, treatment and long-term monitoring of patients with these rare diseases.

Methods: Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates and an allied healthcare professional formulated research questions for a systematic literature review.

Chaperone mediated autophagy contributes to the newly synthesized histones H3 and H4 quality control.

Although there are several pathways to ensure that proteins are folded properly in the cell, little is known about the molecular mechanisms regulating histone folding and proteostasis. In this work, we identified that chaperone-mediated autophagy (CMA) is the main pathway involved in the degradation of newly synthesized histones H3 and H4. This degradation is finely regulated by the interplay between HSC70 and tNASP, two histone interacting proteins.

An international, interlaboratory ring trial confirms the feasibility of an extraction-less "direct" RT-qPCR method for reliable detection of SARS-CoV-2 RNA in clinical samples.

Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) is used worldwide to test and trace the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). "Extraction-less" or "direct" real time-reverse transcription polymerase chain reaction (RT-PCR) is a transparent and accessible qualitative method for SARS-CoV-2 detection from nasopharyngeal or oral pharyngeal samples with the potential to generate actionable data more quickly, at a lower cost, and with fewer experimental resources than full RT-qPCR. This study engaged 10 global testing sites, including laboratories currently experiencing testing limitations due to reagent or equipment shortages, in an international interlaboratory ring trial.

[Positron emission tomography-CT scan (PET-CT) in the diagnosis of large vessel vasculitis].

Vasculitides are a broad group of diseases that can involve any kind of vessel in any organ. These can be classified according to the size of the affected vessels. The most used classification categorizes them in small, medium, and large vessel vasculitis.

Risk Factors and Diet Components Determining Adherence to the Mediterranean Diet in Acute Ischemic Stroke Patients: A Cross-Sectional Analysis of a Prospective Hospital Register Study.

Objectives: Low adherence to a Mediterranean diet (MeDi) is associated with increased incidence, mortality, and severity of acute ischemic strokes (AIS). Nevertheless, the explanatory factors associated with such results are unclear. Our aim was to investigate stroke risk factors associated with adherence to a MeDi in a prospective cohort of AIS patients.

Safety and Immunogenicity of an Inactivated Severe Acute Respiratory Syndrome Coronavirus 2 Vaccine in a Subgroup of Healthy Adults in Chile.

Background: The development of effective vaccines against coronavirus disease 2019 is a global priority. CoronaVac is an inactivated severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine with promising safety and immunogenicity profiles. This article reports safety and immunogenicity results obtained for healthy Chilean adults aged ≥18 years in a phase 3 clinical trial.

Impact on Mental, Physical and Cognitive functioning of a Critical care sTay during the COVID-19 pandemic (IMPACCT COVID-19): protocol for a prospective, multicentre, mixed-methods cohort study.

Introduction: The ongoing pandemic could affect the duration, variety and severity of the mental, physical, and cognitive impairments intensive care unit (ICU) survivors and their families frequently present. We aim to determine the impact of the COVID-19 pandemic on the mental, physical, and cognitive health of survivors, the experience of their families and their treating healthcare professionals.

Methods And Analysis: Prospective, multicentre, mixed-methods cohort study in seven Chilean ICUs.

Using Online Mendelian Inheritance in Man in low- and middle-income countries.

Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next-generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.

Breast adenomyoepithelioma from a radiologic perspective.

Adenomyoepithelioma of the breast (AB) is an uncommon tumor that is characterized by the biphasic proliferation of epithelial and myoepithelial cells. The radiologic findings for AB have been scantly reported. This paper aims to analyze the characteristic findings for AB on ultrasonography (US) and mammography.

Antibacterial Effect of Honey-Derived Exosomes Containing Antimicrobial Peptides Against Oral Streptococci.

Purpose: Recently, our group found exosome-like extracellular vesicles (EVs) in honey displaying strong antibacterial effects; however, the underlying mechanism is still not understood. Thus, the aim of this investigation was to characterize the molecular and nanomechanical properties of honey-derived EVs in order to elucidate the mechanisms behind their antibacterial effect, as well as to determine differential antibiofilm properties against relevant oral streptococci.

Methods: honey-derived EVs (HEc-EVs) isolated via ultracentrifugation were characterized with Western Blot and ELISA to determine the presence of specific exosomal markers and antibacterial cargo, and atomic force microscopy (AFM) was utilized to explore their ultrastructural and nanomechanical properties via non-destructive immobilization onto poly-L-lysine substrates.

Bacterial adhesion to collagens: implications for biofilm formation and disease progression in the oral cavity.

Collagen is the most abundant structural protein in the body and the main component of the extracellular matrix of most tissues, including dentine and periodontal tissues. Despite the well-characterized role of collagen and specifically type-I collagen, as a ligand for host cells, its role as a substrate for bacterial adhesion and biofilm formation is less explored. Therefore, the purpose of this review is to discuss recent findings regarding the adhesion of oral bacteria to collagen surfaces and its role in the progression and severity of oral and systemic diseases.

Oxygen desaturation and adverse outcomes in acute stroke: Secondary analysis of the HeadPoST study.

Objective: Uncertainty exists over the prognostic significance of low arterial oxygen saturation (SaO) in acute stroke. We aimed to determine the strength of association of SaO and adverse outcomes among participants of the international Head Positioning in acute Stroke Trial (HeadPoST).

Methods: Post-hoc analyzes of HeadPoST, a pragmatic cluster-crossover randomized trial of lying flat versus sitting up head positioning in 11,093 patients (age ≥18 years) with acute stroke at 114 hospitals in 9 countries during 2015-2016.