Curation and reporting of pathogenic genome-wide copy-number variants in a prenatal cell-free DNA screen.

Purpose: Advances in fetal fraction amplification in prenatal cell-free DNA screening now allow for high-resolution detection of copy-number variants (CNVs). However, approaches to interpreting CNVs as part of a primary screen are still evolving and require consensus. Here, we present a conservative, patient-centered framework for reporting fetal CNVs.

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients.

Background: Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measures able to capture minimal changes in motor performances induced by therapy. The aim of this work is to describe the effect of Risdiplam on a cohort of 6 adult type 2 and type 3 SMA patients, using Motor Function Measure (MFM32) as a standardized scaleto quantify the motor improvements induced by therapy.

Results: Risdiplam at the dose of 5 mg/daily was administered to a population of 6 (4 F;2 M) type 2 (N = 4) and type 3 (N = 2), adult SMA patients.

Socioeconomic factors and COVID-19 mortality in immune-mediated rheumatic diseases patients: regional analysis from Argentina, Mexico and Brazil.

Background: SARS-CoV-2 infection has become a major international issue, not only from a medical point of view, but also social, economic and political. Most of the available information comes from the United States, Europe, and China, where the population and the socioeconomic status are very different from Latin American countries. This study evaluates the effect of regional socioeconomic characteristics on mortality due SARS-CoV-2 infection in patients with immune-mediated rheumatic diseases (IMRD) from Argentina, Mexico and Brazil.

Factors Associated With Mortality in Patients With Immune-Mediated Rheumatic Diseases and COVID-19 From Latin America: Data From Argentina, Mexico, and Brazil.

Objective: To describe characteristics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with rheumatic immune-mediated inflammatory diseases (IMIDs) from Argentina, Mexico and Brazil, and to assess factors associated with mortality in this population.

Methods: Data from 3 national registries, SAR-COVID (Argentina), CMR-COVID (Mexico), and ReumaCoV-Brasil (Brazil), were combined. Adult patients with IMIDs and SARS-CoV-2 infection were recruited.

Humoral and T Cell Response to SARS-CoV-2 Vaccination in Patients With Rheumatoid Arthritis.

Objective: The objective of this study was to assess the SARS-CoV-2-specific humoral and T cell response after a two-dose regimen of SARS-CoV-2 vaccine in patients with rheumatoid arthritis (RA).

Methods: In this observational study, patients with RA who are ≥18 years of age and vaccinated for SARS-CoV-2 according to the Argentine National Health Ministry's vaccination strategy were included. Anti-SARS-CoV-2 immunoglobulin G (IgG) antibodies (ELISA-COVIDAR test), neutralizing activity (cytotoxicity in VERO cells), and specific T cell response (IFN-γ ELISpot Assay) were assessed after the first and second dose.

Improvement of cognitive function in wild-type and Alzheimer´s disease mouse models by the immunomodulatory properties of menthol inhalation or by depletion of T regulatory cells.

A complex network of interactions exists between the olfactory, immune and central nervous systems. In this work we intend to investigate this connection through the use of an immunostimulatory odorant like menthol, analyzing its impact on the immune system and the cognitive capacity in healthy and Alzheimer's Disease Mouse Models. We first found that repeated short exposures to menthol odor enhanced the immune response against ovalbumin immunization.

Safety of Multifood Oral Immunotherapy in Children Aged 1 to 18 Years at an Academic Pediatric Clinic.

Background: Oral immunotherapy (OIT) aims to increase the reaction threshold to a food allergen and decrease the risk of a potentially life-threatening allergic reaction in the event of an accidental ingestion. Whereas single-food OIT is the most extensively studied, data on multifood OIT are limited.

Objective: Our study aimed to examine the safety and feasibility of single-food and multifood immunotherapy in a large cohort in an outpatient pediatric allergy clinic setting.

Immune Response to SARS-CoV-2 Third Vaccine in Patients With Rheumatoid Arthritis Who Had No Seroconversion After Primary 2-Dose Regimen With Inactivated or Vector-Based Vaccines.

Objective: The aim of this study was to assess the immune response after a third dose of SARS-CoV-2 vaccine in patients with rheumatoid arthritis (RA) with undetectable antibody titers after the primary regimen of 2 doses.

Methods: Patients with RA with no seroconversion after 2 doses of SARS-CoV-2 vaccine and who received a third dose of either an mRNA or vector-based vaccine were included. Anti-SARS-CoV-2 IgG antibodies, neutralizing activity, and T cell responses were assessed after the third dose.

Impact of Microfluidization on the Emulsifying Properties of Zein-Based Emulsions: Influence of Diutan Gum Concentration.

Microfluidization is a preparation method that can be used to obtain emulsions with submicron droplet sizes. The first objective of this study was to evaluate the influence of homogenization pressure and cycles on droplet sizes using response surface methodology. Secondly, the influence of the diutan gum concentration incorporated in the optimized emulsion on rheological properties, microstructure, and physical stability was investigated.

Microencapsulated and in Combination with Quercetin Inhibit Colorectal Cancer Development in Apc Mice.

Recent studies have suggested that flavonoids such as quercetin and probiotics such as () and () could play a relevant role in inhibiting colon cancer cell growth. Our study investigated the role of dietary supplementation with microencapsulated probiotics ( and ) along with quercetin in the development of mouse colorectal cancer (CRC). Methods: Adenomatous polyposis coli/multiple intestinal neoplasia (Apc) mice were fed a standard diet or the same diet supplemented with microencapsulated probiotics ( and strains, 10 CFU/100 g food) or both probiotics strains plus microencapsulated quercetin (15 mg/100 g food) for 73 days.

Differences in oral food challenge reaction severity based on increasing age in a pediatric population.

Background: Food allergy reactions range from mild to severe with differences in age appearing to be an important factor associated with reaction severity.

Objective: To define differences in oral food challenge (OFC) reaction severity in pediatric patients from infancy to adolescence using objective clinical outcomes and standardized reaction grading tools.

Methods: Retrospective review of all positive OFC results at 2 large institutions between September 2016 and February 2019.

Effect of surface treatment and manufacturing process on the shear bond strength of veneering composite resin to polyetherketoneketone (PEKK) and polyetheretherketone (PEEK).

Statement Of Problem: Polyaryletherketones (PAEKs) are high-performance polymer materials in which polyetheretherketone (PEEK) and polyetherketoneketone (PEKK) are the most used. Although mechanical and shear bonding strength tests have been performed on the 2 materials, studies on the influence of processing on bonding are scarce.

Purpose: The purpose of this in vitro study was to determine the influence of the surface treatment and the manufacturing process on the shear bond strength of veneering composite resin to PEKK and PEEK.

Audiovisual Modules to Enhance Informed Consent in the ICU: A Pilot Study.

Unlabelled: Obtaining informed consent for commonly performed ICU procedures is often compromised by variability in communication styles and inadequate verbal descriptions of anatomic concepts. The objective of this study was to evaluate the efficacy of an audiovisual module in improving the baseline knowledge of ICU procedures among patients and their caregivers.

Design: Prospective, observational study.

Synergy of Linezolid with Several Antimicrobial Agents against Linezolid-Methicillin-Resistant Staphylococcal Strains.

Linezolid is a synthetic oxazolydinone active against multi-resistant Gram-positive cocci that inhibits proteins synthesis by interacting with the 50S ribosomal subunit. Although linezolid-resistant strains are infrequent, several outbreaks have been recently described, associated with prolonged treatment with the antibiotic. As an alternative to monotherapy, the combination of different antibiotics is a commonly used option to prevent the selection of resistant strains.

In vitro 3D culture lung model from expanded primary cystic fibrosis human airway cells.

Background: In vitro cystic fibrosis (CF) models are crucial for understanding the mechanisms and consequences of the disease. They are also the gold standard for pre-clinical efficacy studies of current and novel CF drugs. However, few studies have investigated expansion and differentiation of primary CF human bronchial epithelial (CF-HBE) cells.

Status of Sleep Apnea and Snoring Disorder Curriculum in U.S. Advanced Education Prosthodontic Programs.

Purpose: To assess the management of sleep apnea and snoring disorders in Advanced Education Programs in Prosthodontics (AEPP) in the United States.

Materials And Methods: A 51 item, online survey was sent to program directors at 48 AEPPs in the United States in 2015. Data results were analyzed descriptively.

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Pathogenic variants in the IQSEC2 gene including nonsense, frameshift, splice-alterations, deletions, and missense changes have been identified in individuals with X-linked mental retardation. Although highly variable, clinical features may include hypotonia, moderate to severe delayed psychomotor development, intellectual disability, speech deficits, refractory seizures, autistic features, and stereotypical movements. Females with de novo variants have been described with classical features.

De novo loss-of-function variants in () associate with a subset of Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a rare but recurrent microdeletion syndrome associated with hemizygosity of an interstitial segment of Chromosome 4 (4p16.3). Consistent with historical reports in which overlapping deletions defined a minimal critical region in WHS patients, recent reports from exome sequence analysis have provided further evidence that haploinsufficiency of a specific gene within this critical region, (), is causal for many features of the syndrome.

Endovascular treatment of a splenic vein aneurysm through a transhepatic approach.

Aneurysms of the portal vein and its branches have been rarely described. Their natural history is unknown although large ones (>3 cm in diameter) have been reported to cause rupture, thrombosis, duodenal or biliary obstruction, inferior vena cava compression and/or portal hypertension. We report the case of an incidentally diagnosed 4.

A fully digital approach to fabricating a CAD-CAM ceramic crown to fit an existing removable partial denture.

The use of a fully digital approach to fabricate an anatomic contour crown to fit an existing removable prosthesis allows the dentist and the dental laboratory technician to work efficiently in a digital environment. This report presents a series of patient treatments involving the fabrication of an anatomic contour monolithic zirconia crown to retrofit an existing removable partial denture. A complete digital workflow comprises an intraoral digital scan and computer-aided design and computer-aided manufacturing (CAD-CAM) technology.

Maternal High-Fat Diet Programs Offspring Liver Steatosis in a Sexually Dimorphic Manner in Association with Changes in Gut Microbial Ecology in Mice.

The contributions of maternal diet and obesity in shaping offspring microbiome remain unclear. Here we employed a mouse model of maternal diet-induced obesity via high-fat diet feeding (HFD, 45% fat calories) for 12 wk prior to conception on offspring gut microbial ecology. Male and female offspring were provided access to control or HFD from weaning until 17 wk of age.

Wear and Corrosion Interactions at the Titanium/Zirconia Interface: Dental Implant Application.

Purpose: Dental implants have been shown to have predictable success, but esthetic complications often arise. To reduce tissue shadowing from titanium, zirconia abutments may be used; however, the literature suggests that the use of zirconia leads to greater destruction of the implant interface that may result in biological complications such as titanium tattoos and heavy metal toxicity. Previous studies have examined the mechanical aspects of this implant/abutment relationship, but they have not accounted for the corrosive degradation that also takes place in the dynamic environment of the oral cavity.