The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer.

: Congenital, non-syndromic orofacial clefts (CL/P) are infrequently monogenic in etiology. However, heterozygous pathogenic germline variants were reported in a few non-syndromic CL/P families, as well as in one syndromic form of CL/P: the blepharocheilodontic syndrome. encodes epithelial cadherin (E-cadherin), and close to 300 different pathogenic variants are listed in the ClinVar mutation database.

Correction: Giunta et al. Ameliorative Effects of PACAP against Cartilage Degeneration. Morphological, Immunohistochemical and Biochemical Evidence from and Models of Rat Osteoarthritis. 2015, , 5922-5944.

In the original publication [...

Unraveling the Immune Web: Advances in SMI Capsular Fibrosis from Molecular Insights to Preclinical Breakthroughs.

Breast implant surgery has evolved significantly, yet challenges such as capsular contracture remain a persistent concern. This review presents an in-depth analysis of recent advancements in understanding the immune mechanisms and clinical implications associated with silicone mammary implants (SMIs). The article systematically examines the complex interplay between immune responses and capsular fibrosis, emphasizing the pathophysiological mechanisms of inflammation in the etiology of this fibrotic response.

Raman Handheld Versus Microscopic Spectroscopy for Estimating the Post-Mortem Interval of Human Bones: A Comparative Pilot Study.

The post-mortem interval estimation for human skeletal remains is critical in forensic medicine. This study used Raman spectroscopy, specifically comparing a handheld device to a Raman microscope for PMI estimations. Analyzing 99 autopsy bone samples and 5 archeological samples, the research categorized them into five PMI classes using conventional methods.

Corrigendum: Navigating the fungal battlefield: cysteine-rich antifungal proteins and peptides from Eurotiales.

[This corrects the article DOI: 10.3389/ffunb.2024.

Global analysis of endogenous protein disorder in cells.

Disorder and flexibility in protein structures are essential for biological function but can also contribute to diseases, such as neurodegenerative disorders. However, characterizing protein folding on a proteome-wide scale within biological matrices remains challenging. Here we present a method using a bifunctional chemical probe, named TME, to capture in situ, enrich and quantify endogenous protein disorder in cells.

An analytical, numerical and experimental study of in-vitro SARS-CoV-2 evolution in Vero B4 cells.

We derive a numerical model representing the emergence and evolution of SARS-CoV-2 variants, informed by data from in-vitro passaging experiments in Vero B4 cells. We compare our numerical simulation results against probabilistic derivations of the expected probability of and time until the fittest variant becomes fixed in the population. Contrary to literature surrounding DNA viruses and eukaryotes where probabilities of fitness extremes are often modelled by exponential decaying tail, we show that above wildtype fitness differences for SARS-CoV-2 are actually best modelled by a heavy-tailed Fréchet distribution.

Effects of drugs on the oxygen dissociation curve-a scoping review.

Purpose: The shape and position of the hemoglobin-oxygen dissociation curve (ODC) is of critical importance in medicine, as it determines the uptake of O in the lungs and the delivery of O to the tissues. Numerous reports have identified affinity-modulating effects of drugs in humans. Such effects may be relevant to conditions such as pulmonary diffusion disorders, peripheral vascular disease, or coronary artery disease.

Physician Preferences in Using Novel Digital Devices for the Management of Atrial Fibrillation-A DAS-CAM III Survey.

Aim: A recent European Heart Rhythm Association (EHRA) practical guide provides guidance on the use of novel digital devices for heart rhythm analysis using either electrocardiogram (ECG) or photoplethysmography (PPG) technology for the diagnosis of atrial fibrillation (AF). This survey assesses physicians' preferences to use digital devices in patients with possible AF and their impact on clinical decision-making.

Methods And Results: Participants of the DAS-CAM III initiated and distributed an online survey assessing physician preferences in using digital devices for the management of AF in different clinical scenarios.

Urinary Proteomics and Systems Biology Link Eight Proteins to the Higher Risk of Hypertension and Related Complications in Blacks Versus Whites.

Blacks are more prone to salt-sensitive hypertension than Whites. This cross-sectional analysis of a multi-ethnic cohort aimed to search for proteins potentially involved in the susceptibility to salt sensitivity, hypertension, and hypertension-related complications. The study included individuals enrolled in African Prospective Study on the Early Detection and Identification of Cardiovascular Disease and Hypertension (African-PREDICT), Flemish Study of the Environment, Genes and Health Outcomes (FLEMENGHO), Prospective Cohort Study in Patients with Type 2 Diabetes Mellitus for Validation of Biomarkers (PROVALID)-Austria, and Urinary Proteomics Combined with Home Blood Pressure Telemonitoring for Health Care Reform Trial (UPRIGHT-HTM).

Surgical and oncologic outcomes for liver resections of cystic neuroendocrine tumor liver metastasis.

Background: Cystic neuroendocrine tumor liver metastases (NETLM) are rare and dynamics in the liquid compartment often misinterpreted as rapid progression, affecting selection for liver resection candidates. This study retrospectively evaluates surgical and oncologic outcomes in patients with cystic versus solid NETLM from small bowel and pancreatic primaries.

Methods: Between 2000 and 2020, 12 patients with cystic NETLM were identified among 464 patients who underwent >90 % tumor cytoreduction debulking hepatectomy at the Mayo Clinic.

Dendritic cells under the control of the preimplantation embryo secretome: an in vitro study.

Objective: To study the crosstalk between maternal immune cells and the developing embryo by investigating the immunogenic properties of human blastocyst spent media (SM) on dendritic cells.

Methods: In this prospective multicenter experimental study, human preimplantation embryo spent media were collected after blastocyst formation, grouped based on successful or unsuccessful implantation, and analyzed by protein array or used to stimulate monocyte derived dendritic cells (moDC). The immunomodulatory properties of SM on moDC were investigated by analyzing changes in phenotype, cytokine secretion, indoleamine 2,3-dioxygenase (IDO) activity, and ability to activate T cells.

Discovery of nostatin A, an azole-containing proteusin with prominent cytostatic and pro-apoptotic activity.

Ribosomally synthesized and post-translationally modified peptides (RiPPs) are intriguing compounds with potential pharmacological applications. While many RiPPs are known as antimicrobial agents, a limited number of RiPPs with anti-proliferative effects in cancer cells are available. Here we report the discovery of nostatin A (NosA), a highly modified RiPP belonging among nitrile hydratase-like leader peptide RiPPs (proteusins), isolated from a terrestrial cyanobacterium sp.

Vesicular Stomatitis Virus as a Platform for Protease Activity Measurements.

Protease inhibitors are among the most powerful antiviral drugs. They have been used successfully against viruses, such as the human immunodeficiency virus (HIV), hepatitis C virus (HCV) and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Protease inhibitor screening tools are therefore important to identify inhibitors that have the potential to become antiviral drugs.

Systemic and transcriptional response to intermittent fasting and fasting-mimicking diet in mice.

Background: Dietary restriction (DR) has multiple beneficial effects on health and longevity and can also improve the efficacy of certain therapies. Diets used to instigate DR are diverse and the corresponding response is not uniformly measured. We compared the systemic and liver-specific transcriptional response to intermittent fasting (IF) and commercially available fasting-mimicking diet (FMD) after short- and long-term use in C57BL/6 J mice.

Cancer-specific utility: clinical validation of the EORTC QLU-C10D in patients with glioblastoma.

Introduction: Many health economic evaluations rely on the validity of the utility measurement for health-related quality of life (HRQoL). While generic utility measures perform well in HRQoL assessments of many diseases and patient populations, appropriateness for cancer-specific disease burdens needs attention and condition-specific measures could be a viable option. This study assessed the clinical validity of the cancer-specific EORTC QLU-C10D, a utility scoring algorithm for the EORTC QLQ-C30, in patients with glioblastoma.