Analyzing the TotalSegmentator for facial feature removal in head CT scans.

Background: Facial recognition technology in medical imaging, particularly with head scans, poses privacy risks due to identifiable facial features. This study evaluates the use of facial recognition software in identifying facial features from head CT scans and explores a defacing pipeline using TotalSegmentator to reduce re-identification risks while preserving data integrity for research.

Methods: 1404 high-quality renderings from the UCLH EIT Stroke dataset, both with and without defacing were analysed.

An international Delphi consensus on patient preparation for metabolic and bariatric surgery.

Global obesity rates have risen dramatically, now exceeding deaths from starvation. Metabolic and bariatric surgery (MBS), initially for severe obesity (BMI ≥35 kg/m), is performed globally over 500 000 times annually, offering significant metabolic benefits beyond weight loss. However, varying eligibility criteria globally impact patient care and healthcare resources.

Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction.

Gain-of-function mutations in the gene result in activated phosphoinositide 3-kinase δ syndrome type 1 (APDS1). This syndrome is a life-threatening combined immunodeficiency and today there are neither optimal nor long-term therapeutic solutions for APDS1 patients. Thus, new alternative treatments are highly needed.

Possible technical aspects involved in the development of GERD after sleeve gastrectomy: Surgical technique considerations.

Sleeve gastrectomy (SG) is the most common bariatric surgery worldwide and has shown to cause de novo or worsen symptoms of gastroesophageal reflux disease (GERD). Esophageal motility and physiology studies are mandatory in bariatric and foregut centers. The predisposing factors in post-SG patients are disruption of His angle, resection of gastric fold and gastric fundus, increased gastric pressure, resection of the gastric antrum, cutting of the sling fibers and pyloric spasm.

Isolation, Identification, and Determination of the Virulence of the Causal Agents of Corm Rot of Saffron ( L.) in Valle de Uco, Argentina.

Saffron ( L.) presents an attractive opportunity for diversifying production and adding value, particularly for small-scale growers and family-based agriculture. However, the agamic propagation of the crop through corms raises concerns regarding disease dispersion.

Fluorescence-based absolute quantification of near-infrared probes in tissue extracts for biodistribution analyses.

In recent years, significant progress has been made in the development of fluorescent contrast agents for clinical applications. For the development of a fluorescent probe, it is crucial to evaluate its safety profile, including biodistribution. Specific methods need to be developed for the absolute quantification of fluorescent probes in tissue specimens from animals administered with test compounds in the framework of biodistribution/efficacy/toxicity studies.

Identification of the zebrafish homologues of IMPG2, a retinal proteoglycan.

Photoreceptor outer segments are surrounded by a carbohydrate-rich matrix, the interphotoreceptor matrix, necessary for physiological retinal function. Few roles for molecules characterizing the interphotoreceptor matrix have been clearly defined. Recent studies have found the presence of nonsense mutations in the interphotoreceptor matrix proteoglycan 2 (IMPG2) gene in patients affected by retinal dystrophies.

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.

Here, we report on a heterozygous interferon regulatory factor 4 (IRF4) missense variant identified in three patients from a multigeneration family with hypogammaglobulinemia. Patients' low blood plasmablast/plasma cell and naïve CD4 and CD8 T cell counts contrasted with high terminal effector CD4 and CD8 T cell counts. Expression of the mutant IRF4 protein in control lymphoblastoid B cell lines reduced the expression of BLIMP-1 and XBP1 (key transcription factors in plasma cell differentiation).

Time-resolved microfluidics unravels individual cellular fates during double-strand break repair.

Background: Double-strand break repair (DSBR) is a highly regulated process involving dozens of proteins acting in a defined order to repair a DNA lesion that is fatal for any living cell. Model organisms such as Saccharomyces cerevisiae have been used to study the mechanisms underlying DSBR, including factors influencing its efficiency such as the presence of distinct combinations of microsatellites and endonucleases, mainly by bulk analysis of millions of cells undergoing repair of a broken chromosome. Here, we use a microfluidic device to demonstrate in yeast that DSBR may be studied at a single-cell level in a time-resolved manner, on a large number of independent lineages undergoing repair.

Persistent and De Novo GERD After Sleeve Gastrectomy: Manometric and pH-Impedance Study Findings.

Purpose: One concerning disadvantage of sleeve gastrectomy (SG) technique as a treatment for obesity is the risk of developing gastroesophageal reflux disease (GERD) or worsening its symptoms after surgery. The purpose of this study is to describe the changes in manometry and 24-h pHmetry with impedance in bariatric patients after SG.

Materials And Methods: Retrospective analysis of 225 patients who underwent SG and were subjected to manometry, 24-h phmetry, and 24-h impedance between 2006 and 2016.

Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.

Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or splice acceptor sites of exon 11 of the gene responsible for an alternative splice product and a shortened protein. The clinical presentation of APDS2 patients is highly variable, ranging from mild to profound combined immunodeficiency features as massive lymphoproliferation, increased susceptibility to bacterial and viral infections, bronchiectasis, autoimmune manifestations, and occurrence of cancer.

Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Autosomal dominant gain-of-function mutations in the gene encoding the catalytic subunit p110δ of phosphoinositide 3-kinase-δ (PI3K-δ) or autosomal dominant loss-of-function mutations in the gene encoding the p85α, p55α and p50α regulatory subunits cause Activated PI3-kinase-δ syndrome (APDS; referred as type 1 APDS and type 2 APDS, respectively). Consequences of these mutations are PI3K-δ hyperactivity. Clinical presentation described for both types of APDS patients is very variable, ranging from mild or asymptomatic features to profound combined immunodeficiency.

Differential efficacies of Cas nucleases on microsatellites involved in human disorders and associated off-target mutations.

Microsatellite expansions are the cause of >20 neurological or developmental human disorders. Shortening expanded repeats using specific DNA endonucleases may be envisioned as a gene editing approach. Here, we measured the efficacy of several CRISPR-Cas nucleases to induce recombination within disease-related microsatellites, in Saccharomyces cerevisiae.

Incidence of Guillain-Barré syndrome in an Uruguayan population. A prospective cohort study.

Guillain-Barre syndrome (GBS) is an acute autoimmune peripheral inflammatory neuropathy and the most frequent cause of non-poliovirus acute flaccid paralysis worldwide. Background annual GBS incidence rates (IRs) in Latin America (LA) varies from 0.40 to 2.

Cellular Senescence Is Associated with Faster Progression of Focal Segmental Glomerulosclerosis.

Background: A current, albeit unproven, hypothesis is that an acceleration of cellular senescence is involved in impaired renal repair and progression of glomerular diseases. Focal segmental glomerulosclerosis (FSGS) is a glomerular disease with a substantial risk for progression to ESRD. However, if and to what extent cell senescence predicts a negative outcome in FSGS is still unknown.

Alternative DNA Structures : Molecular Evidence and Remaining Questions.

Duplex DNA naturally folds into a right-handed double helix in physiological conditions. Some sequences of unusual base composition may nevertheless form alternative structures, as was shown for many repeated sequences However, evidence for the formation of noncanonical structures in living cells is difficult to gather. It mainly relies on genetic assays demonstrating their function or through genetic instability reflecting particular properties of such structures.

COVID-19: IFSO LAC Recommendations for the Resumption of Elective Bariatric Surgery.

Background: COVID-19 pandemic varies greatly and has different dynamics in every country, city, and hospital in Latin America. Obesity increases the risk of SARS-CoV-2 infection, and it is one of the independent risk factors for the most severe cases of COVID-19. Currently, the most effective treatment against obesity available is bariatric and metabolic surgery (BMS), which further resolves or improves other independent risk factors like diabetes and hypertension.

Transcriptome analysis of the zebrafish Mutant, , highlights Atoh7-dependent genetic networks with potential implications for human eye diseases.

Expression of the bHLH transcription protein Atoh7 is a crucial factor conferring competence to retinal progenitor cells for the development of retinal ganglion cells. Several studies have emerged establishing as a retinal disease gene. Remarkably, such studies uncovered variants associated with global eye defects including optic nerve hypoplasia, microphthalmia, retinal vascular disorders, and glaucoma.

Resection and repair of a Cas9 double-strand break at CTG trinucleotide repeats induces local and extensive chromosomal deletions.

Microsatellites are short tandem repeats, ubiquitous in all eukaryotes and represent ~2% of the human genome. Among them, trinucleotide repeats are responsible for more than two dozen neurological and developmental disorders. Targeting microsatellites with dedicated DNA endonucleases could become a viable option for patients affected with dramatic neurodegenerative disorders.

Laparoscopic Liver Resection: A South American Experience with 2887 Cases.

Background: Laparoscopic liver resections (LLR) have been increasingly performed in recent years. Most of the available evidence, however, comes from specialized centers in Asia, Europe and USA. Data from South America are limited and based on single-center experiences.