Machine learning accelerates the discovery of epitope-based dual-bioactive peptides against skin infections.

Objectives: Skin injuries and infections are an inevitable part of daily human life, particularly with chronic wounds, becoming an increasing socioeconomic burden. In treating skin infections and promoting wound healing, bioactive peptides may hold significant potential, particularly those possessing antimicrobial and anti-inflammatory properties. However, obtaining these peptides solely through traditional wet laboratory experiments is costly and time-consuming, and peptides identified by current computer-assisted predictive models largely lack validation of their effects via wet laboratory experiments.

Screening a new set of microhaplotypes in exonic regions for sample identity testing and paternity testing during whole exome sequencing analysis.

Whole exome sequencing (WES) is widely used in clinical diagnosis. Before obtaining an accurate diagnosis, it is essential to conduct sample identity testing and paternity testing on trio samples. Currently, there is a lack of optimal genetic markers for these purposes, with limited literature available in this area.

Innovative 3D bioprinting approaches for advancing brain science and medicine: a literature review.

The rapid advancements in 3D printing technology have revolutionized the field of tissue engineering, particularly in the development of neural tissues for the treatment of nervous system diseases. Brain neural tissue, composed of neurons and glial cells, plays a crucial role in the functioning of the brain, spinal cord, and peripheral nervous system by transmitting nerve impulses and processing information. By leveraging 3D bioprinting and bioinks, researchers can create intricate neural scaffolds that facilitate the proliferation and differentiation of nerve cells, thereby promoting the repair and regeneration of damaged neural tissues.

Specifically targeted antimicrobial peptides synergize with bacterial-entrapping peptide against systemic MRSA infections.

Introduction: The design of precision antimicrobials aims to personalize the treatment of drug-resistant bacterial infections and avoid host microbiota dysbiosis.

Objectives: This study aimed to propose an efficient de novo design strategy to obtain specifically targeted antimicrobial peptides (STAMPs) against methicillin-resistant Staphylococcus aureus (MRSA).

Methods: We evaluated three strategies designed to increase the selectivity of antimicrobial peptides (AMPs) for MRSA and mainly adopted an advanced hybrid peptide strategy.

Hollow CoFe Nanozymes Integrated with Oncolytic Peptides Designed via Machine-Learning for Tumor Therapy.

Developing novel substances to synergize with nanozymes is a challenging yet indispensable task to enable the nanozyme-based therapeutics to tackle individual variations in tumor physicochemical properties. The advancement of machine learning (ML) has provided a useful tool to enhance the accuracy and efficiency in developing synergistic substances. In this study, ML models to mine low-cytotoxicity oncolytic peptides are applied.

Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.

Congenital hyperinsulinism (CHI; OMIM: 256450) is characterized by persistent insulin secretion despite severe hypoglycemia. The most common causes are variants in the ATP-binding cassette subfamily C member 8(ABCC8) and potassium inwardly-rectifying channel subfamily J member 11(KCNJ11) genes. These encode ATP-sensitive potassium (K) channel subunit sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.

RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium.

Noncompaction of the ventricular myocardium (NVM), the third most diagnosed cardiomyopathy, is characterized by prominent trabeculae and intratrabecular recesses. However, the genetic etiology of 40%-60% of NVM cases remains unknown. Here, we identify two infants with NVM, in a nonconsanguineous family, with a typical clinical presentation of persistent bradycardia since the prenatal period.

Novel bi-allelic variants of contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence.

Pontocerebellar hypoplasia type 8(PCH8) is a rare neurodegenerative disorder, reportedly caused by pathogenic variants of the in autosomal recessive inheritance, and variants have also been implicated in other diseases, and yet none of the prenatal fetal features were reported in PCH8. In this study, we investigated the phenotype and genotype in a human subject with global developmental delay, including clinical data from the prenatal stage through early childhood. Prenatally, the mother had polyhydramnios, and the bilateral ventricles of the fetus were slightly widened.

Gut-targeted nanoparticles deliver specifically targeted antimicrobial peptides against infections.

Specifically targeted antimicrobial peptides (STAMPs) are novel alternatives to antibiotics, whereas the development of STAMPs for colonic infections is hindered by limited de novo design efficiency and colonic bioavailability. In this study, we report an efficient de novo STAMP design strategy that combines a traversal design, machine learning model, and phage display technology to identify STAMPs against . STAMPs could physically damage , eliminate biofilms, and self-assemble into nanoparticles to entrap pathogens.

A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.

Background: The L1 cell adhesion molecule (L1CAM, OMIM 308840) gene is primarily expressed in the nervous system and encodes the L1 adhesion molecule protein. Variations in L1CAM cause a wide spectrum of X-linked neurological disorders summarized as the L1 syndrome.

Methods: We report a 29-year-old pregnant woman who experienced multiple adverse pregnancy outcomes due to recurrent fetal hydrocephalus with an X-linked recessive inheritance.

[Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].

Objective: To explore the genetic basis for four patients suspected for Marfan syndrome (MFS).

Methods: Four male patients with suspected MFS and their family members who were treated at West China Second Hospital of Sichuan University from September 12, 2019 to March 27, 2021 were selected as the study subjects. Peripheral venous blood samples were collected from the patients and their parents or other pedigree members for the extraction of genomic DNA.

Case Report: The compound heterozygotes variants in causes autosomal recessive hereditary lymphedema in a Chinese family.

Lymphedema is a local form of tissue swelling, which is caused by excessive retention of lymph fluid in interstitial compartment caused by impaired lymphatic drainage damage. Primary lymphedema is caused by developmental lymphatic vascular abnormalities. Most cases are inherited as autosomal dominant, with incomplete penetrance and variable expression.

Synthetic peptides that form nanostructured micelles have potent antibiotic and antibiofilm activity against polymicrobial infections.

The emergence of multidrug-resistant bacterial pathogens is a growing threat to global public health. Here, we report the development and characterization of a panel of nine-amino acid residue synthetic peptides that display potent antibacterial activity and the ability to disrupt preestablished microbial biofilms. The lead peptide (Peptide K6) showed bactericidal activity against and in culture and in monocultures and mixed biofilms in vitro.

Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Background: Short-rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, and individuals with either syndrome can manifest cerebellar malformation and variable developmental delays. However, neither of these conditions is easily diagnosed during pregnancy due to a limited fetal phenotype. Here, we investigated a fetus that was initially observed to have short limbs and polydactyly and discovered a compound heterozygous pathogenesis through exome sequencing (ES).

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.

Background: Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes. Congenital contractural arachnodactyly syndrome (CCA) is an autosomal dominant hereditary disease of connective tissue. To date, the FBN2 gene is the only gene reported to cause CCA.

Exposure to BDE-47 causes female infertility risk and induces oxidative stress and lipotoxicity-mediated ovarian hormone secretion disruption in mice.

2,2,4,4-Tetrabromodiphenyl ether (BDE-47) has received considerable attention because of its high level in biological samples and potential developmental toxicity. Whether BDE-47 ingestion affects ovarian hormone secretion and the detailed underlying mechanism have not been clearly elucidated. The present study aimed to evaluate the toxicity of BDE-47 on ovarian hormone secretion and explored the underlying mechanism.

Dynamics of defatted rice bran in physicochemical characteristics, microbiota and metabolic functions during two-stage co-fermentation.

Defatted rice bran (DFRB) is an inexpensive and easily available agricultural byproduct. Existence of anti-nutritional factors (ANFs), high fiber and low protein content, susceptible to oxidation and rancidity make DFRB currently underutilized. In this study, Bacillus subtilis with high enzyme activities, Saccharomyces cerevisiae with high single-cell proteins concentration and Lactiplantibacillus plantarum with excellent acid secreting capacity were screened to co-fermented DFRB with phytase, and multiple physicochemical analyses combined with high-throughput sequencing were applied to provide insights into the dynamics of the physicochemical characteristics and the complex microbiome during the two-stage co-fermentation of DFRB.

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.

Background: Hereditary multiple exostoses (HME), also referred to as multiple osteochondromas, is an autosomal dominant skeletal disease characterized by the development of multiple overgrown benign bony tumors capped by cartilage and is associated with bone deformity, joint limitation, and short stature. Mutations in exostosin glycosyltransferase (EXT)1 and EXT2 genes, which are located on chromosomes 8q24.1 and 11p13, contribute to the pathogenesis of HME.

Cathelicidin-WA Protects Against LPS-Induced Gut Damage Through Enhancing Survival and Function of Intestinal Stem Cells.

Preservation of intestinal stem cells (ISCs) plays a critical role in initiating epithelial regeneration after intestinal injury. Cathelicidin peptides have been shown to participate in regulating intestinal damage repair. However, it is not known how exactly Cathelicidin-WA (CWA) exert its function after tissue damage.

The effects of nondigestible fermentable carbohydrates on adults with overweight or obesity: a meta-analysis of randomized controlled trials.

Context: Nondigestible fermentable carbohydrates (NDFCs) can be fermented by microbiota, thereby yielding metabolites that have a beneficial role in the prevention and treatment of obesity and its complications. However, to our knowledge, no meta-analysis has been conducted to evaluate the effects of NDFCs on obesity.

Objective: To conduct a meta-analysis of randomized controlled trials (RCTs) to summarize existing evidence on the effects of numerous NDFCs on adiposity and cardiovascular risk factors in adults with overweight or obesity with ≥2 weeks of follow-up.

Higher intake of microbiota-accessible carbohydrates and improved cardiometabolic risk factors: a meta-analysis and umbrella review of dietary management in patients with type 2 diabetes.

Background: Microbiota-accessible carbohydrates (MACs) are critical substrates for intestinal microbes; the subsequent production of SCFAs may have some potential benefits for patients with type 2 diabetes mellitus (T2DM).

Objectives: We conducted a meta-analysis of randomized controlled trials (RCTs) to assess the effects of higher compared with lower MAC intakes on cardiovascular risk factors in T2DM patients and performed an umbrella review of RCTs to evaluate the evidence quality concerning existing dietary T2DM interventions.

Methods: Publications were identified by searching MEDLINE, EMBASE, and CINAHL.

Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.

Purpose: The aim of this retrospective study is to investigate the genetic etiology and propose a diagnostic strategy for pediatric patients with epilepsy and comorbid intellectual disability (ID).

Methods: From September 2014 to May 2020, a total of 102 pediatric patients diagnosed with epilepsy with co-morbid ID with unknown causes were included in this study. All patients underwent tests of single nucleotide polymorphism (SNP) array for chromosomal abnormalities.

Overall assessment of antibiotic substitutes for pigs: a set of meta-analyses.

Background: Antibiotic growth promoters are widely used to improve weight gain. However, the abuse of antibiotics can have many negative effects on people. Developing alternatives to antibiotics is an urgent need in livestock production.