1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case.

Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions.

Biomechanical Analysis of Truncated Cone Implants for Maxillary Sinus Lift: An In Vitro Study on Polyurethane Laminas.

This study aimed to evaluate the biomechanical performance of two truncated cone implant designs in maxillary sinus lift (MSL) procedures using polyurethane laminas. A total of 128 implants were used. Polyurethane laminas were divided into two groups based on thickness (1 and 3 mm) and two subgroups based on density (20 and 30 pounds per cubic foot, PCF).

Unfolded protein response: An essential element of intestinal homeostasis and a potential therapeutic target for inflammatory bowel disease.

Different physiological and pathological situations can produce alterations in the cell's endoplasmic reticulum (ER), leading to a condition known as ER stress, which can trigger an intricate intracellular signal transduction system known as the unfolded protein response (UPR). UPR is primarily tailored to restore proteostasis and ER equilibrium; otherwise, if ER stress persists, it can cause programmed cell death as a cytoprotective mechanism and drive inflammatory processes. Therefore, since intestinal cells strongly rely on UPR for their biological functions and unbalanced UPR has been linked to inflammatory, metabolic, and immune disorders, here we discussed the role of the UPR within the intestinal tract, focusing on the UPR contribution to inflammatory bowel disease development.

Proteolysis-targeting influenza vaccine strains induce broad-spectrum immunity and in vivo protection.

Generating effective live vaccines from intact viruses remains challenging owing to considerations of safety and immunogenicity. Approaches that can be applied in a systematic manner are needed. Here we created a library of live attenuated influenza vaccines by using diverse cellular E3 ubiquitin ligases to generate proteolysis-targeting (PROTAR) influenza A viruses.

PROTAR Vaccine 2.0 generates influenza vaccines by degrading multiple viral proteins.

Manipulating viral protein stability using the cellular ubiquitin-proteasome system (UPS) represents a promising approach for developing live-attenuated vaccines. The first-generation proteolysis-targeting (PROTAR) vaccine had limitations, as it incorporates proteasome-targeting degrons (PTDs) at only the terminal ends of viral proteins, potentially restricting its broad application. Here we developed the next-generation PROTAR vaccine approach, referred to as PROTAR 2.

Exploring Potential Impact of Graphene Oxide and Graphene Oxide-Polyethylenimine on Biological Behavior of Human Amniotic Fluid-Derived Stem Cells.

Regenerative medicine and tissue engineering aim to restore or replace impaired organs and tissues using cell transplantation supported by scaffolds. Recently scientists are focusing on developing new biomaterials that optimize cellular attachment, migration, proliferation, and differentiation. Nanoparticles, such as graphene oxide (GO), have emerged as versatile materials due to their high surface-to-volume ratio and unique chemical properties, such as electrical conductivity and flexibility.

Microbiota and Autism: A Review on Oral and Gut Microbiome Analysis Through 16S rRNA Sequencing.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with multifactorial etiologies, including genetic, environmental, and microbiological factors. In recent years, increasing attention has been given to the role of the gut microbiota in ASD. Emerging evidence suggests that gut microbiota dysbiosis may influence the central nervous system through the gut-brain axis, potentially impacting behavior and neurodevelopment.

Psychiatric Disorders and Cognitive Fluctuations in Parkinson's Disease: Changing Approaches in the First Decades of the 21st Century.

Parkinson's Disease (PD) is a multifaceted neurodegenerative disorder characterized, in addition to the well-recognized motor disturbances, by a complex interplay between cognitive and psychiatric manifestations. We dissect the complex landscape of PD-related psychiatric symptoms, taking into account the impact of functional neurological disorders, somatic delusions, impulse control disorders, and conditions within the bipolar spectrum. The newer entities of somatoform and functional neurological disorders, as well as preexisting bipolar spectrum disorders, are analyzed in detail.

Platelets as crucial players in the dynamic interplay of inflammation, immunity, and cancer: unveiling new strategies for cancer prevention.

Inflammation plays a critical role in the pathogenesis of various diseases by promoting the acquisition of new functional traits by different cell types. Shared risk factors between cardiovascular disease and cancer, including smoking, obesity, diabetes, high-fat diet, low physical activity, and alcohol consumption, contribute to inflammation linked to platelet activation. Platelets contribute to an inflammatory state by activating various normal cells, such as fibroblasts, immune cells, and vascular cells.

The interplay between gut microbiota and the unfolded protein response: Implications for intestinal homeostasis preservation and dysbiosis-related diseases.

The unfolded protein response (UPR) is a complex intracellular signal transduction system that orchestrates the cellular response during Endoplasmic Reticulum (ER) stress conditions to reestablish cellular proteostasis. If, on one side, prolonged ER stress conditions can lead to programmed cell death and autophagy as a cytoprotective mechanism, on the other, unresolved ER stress and improper UPR activation represent a perilous condition able to trigger or exacerbate inflammatory responses. Notably, intestinal and immune cells experience ER stress physiologically due to their high protein secretory rate.

Unraveling the protein kinase C/NDRG1 signaling network in breast cancer.

N-myc downstream-regulated gene 1 (NDRG1) is a member of the NDRG family of intracellular proteins and plays a central role in a wide range of biological processes including stress response, differentiation, and metabolism. The overexpression of NDRG1 is an indicator of poor prognosis in various types of cancer. Here, we found that NDRG1 is an independent prognostic marker of poor outcome in breast cancer (BC).

Applications of basophil activation test in paediatric allergic diseases.

Basophilic granulocytes, containing and releasing histamine after a specific allergy stimulation, are directly involved in IgE-mediated allergic reactions. CD63 is a transmembrane protein of secretory lysosomes of basophils and its upregulation is related with the release of histamine to the extracellular space during IgE-mediated allergic reactions. Basophil activation test (BAT) measures the activation of circulating basophils upon the stimulation of living blood cells with specific allergens.

A pilot study of transcriptomic preimplantation genetic testing (PGT-T): towards a new step in embryo selection?

Study Question: Is it possible to predict an euploid chromosomal constitution and identify a transcriptomic profile compatible with extended embryonic development from RNA sequencing (RNA-Seq) data?

Summary Answer: It has been possible to obtain a karyotype comparable to preimplantation genetic testing for aneuploidy (PGT-A), in addition to a transcriptomic signature of embryos which might be suggestive of improved implantation capacity.

What Is Known Already: Conventional assessment of embryo competence, based on morphology and morphokinetic, lacks knowledge of molecular aspects and faces controversy in predicting ploidy status. Understanding the embryonic transcriptome is crucial, as gene expression influences development and implantation.

Neurological management of ischemic stroke in sickle cell disease- a case report with an updated review of the literature.

Background: In children and adults with sickle-cell disease (SCD), acute ischemic stroke (AIS) associated with a vaso-occlusive crisis is a leading cause of physical and cognitive disability and death. However, neurological guidelines for acute management of AIS fail to directly address this issue. We here report a case of a man with severe cerebrovascular complications and illustrate the current evidence on the management of SCD-related AIS.

State of the art CRISPR-based strategies for cancer diagnostics and treatment.

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology is a groundbreaking and dynamic molecular tool for DNA and RNA "surgery". CRISPR/Cas9 is the most widely applied system in oncology research. It is a major advancement in genome manipulation due to its precision, efficiency, scalability and versatility compared to previous gene editing methods.

Disinfection of dental root canals by cold atmospheric plasma: a systematic review and meta-analysis of dental biofilm.

Aim: The intricate structure of the tooth root canals has a role in the colonization and biofilm formation in hidden areas that are hardly reached by standard endodontic treatments. This review aims at summarizing data from and studies for a better understanding of the application of cold atmospheric plasma (CAP) for the disinfection of dental root canals.

Methods: PubMed, Scopus, and Web of Science databases were screened.

Tolerability and Preliminary Outcomes of Adjuvant T-DM1 in HER2-Positive Breast Cancer After Neoadjuvant Therapy: The ATD Study.

Background/objectives: HER2-positive breast cancer (HER2BC) is an aggressive subtype, with neoadjuvant treatment (NAT) aiming to achieve a pathological complete response (pCR) to improve long-term outcomes. Trastuzumab emtansine (T-DM1) has been established as the standard of care in the adjuvant setting for HER2BC patients who do not obtain pCR. The ATD study aimed to evaluate the real-world tolerability of T-DM1 in this setting.

Metabolic and Regulatory Pathways Involved in the Anticancer Activity of Perillyl Alcohol: A Scoping Review of In Vitro Studies.

Background/objectives: Perillyl alcohol (POH), a plant-derived compound, has demonstrated anti-tumor activity across various human cancers. Understanding the regulatory pathways through which POH exerts its effects is crucial for identifying new therapeutic opportunities and exploring potential drug repositioning strategies. Therefore, this scoping review aims to provide a comprehensive overview of the metabolic and regulatory pathways involved in the anticancer effects of POH, based on in vitro evidence.

A sulfonimide derivative of bezafibrate as a dual inhibitor of cyclooxygenase-2 and PPARα.

Background: PPARα and cyclooxygenase (COX)-2 are overexpressed in certain types of cancer. Thus, developing a dual inhibitor that targets both could be more effective as an anticancer agent than single inhibitors. We have previously shown that an analog of the bezafibrate named AA520 is a PPARα antagonist.

Value of PGT-A when only one or two blastocysts are obtained: propensity-score matching and cost-effectiveness study.

Objective: To compare the effectiveness and cost of in-vitro fertilization (IVF) with or without preimplantation genetic testing for aneuploidy (PGT-A) when only one or two blastocysts are obtained.

Methods: A dataset was gathered from 1829 patients including 368 non-PGT-A and 1461 PGT-A cycles with one or two blastocysts obtained, between April 2013 and July 2022. Patients were matched 1:1 by propensity-score matching for maternal age, number of metaphase-II oocytes inseminated and number of blastocysts obtained, achieving a database of 242 patients per group.

A Metabolomic Approach to Unexplained Syncope.

This study aims to identify a metabolomic signature that facilitates the classification of syncope and the categorization of the unexplained syncope (US) to aid in its management. We compared a control group (CTRL, = 10) with a transient loss of consciousness (TLC) group divided into the OH group ( = 23) for orthostatic syncope, the NMS group ( = 26) for neuromediated syncope, the CS group ( = 9) for cardiological syncope, and the US group ( = 27) for US defined as syncope without a precise categorization after first- and second-level diagnostic approaches. The CTRL and the TLC groups significantly differed in metabolic profile.