Cyst of the canal of Nuck in an adult female patient: A case report on surgical management.

Introduction: The cyst of the canal of Nuck is a rare cause of inguino-labial swelling in adult women, arising from an obliteration failure of the processus vaginalis during embryological development. Its rarity often leads to misdiagnosis and improper treatment. This article highlights its diagnosis and surgical management.

Experimental Lung Transplantation Related With HIF-1, VEGF, ROS. Assessment of HIF-1alpha, VEGF, and Reactive Oxygen Species After Competitive Blockade of Chetomin for Lung Transplantation in Rats.

Unlabelled: Primary graft failure occurs 15 to 30 % of the time after transplantation. Although there have been improvements in preserving the lungs in good condition, there have not been studies on the regulation of transcription factors.

Methods: We carried out an experimental study involving lung transplantation to indirectly evaluate reactive oxygen species (ROS) production and VEGF expression by competitive blockade of HIF-1alpha with chetomin.

Bean-Syndrome in Maxillofacial District.

Bean syndrome (BS) is a rare congenital angiomatosis affecting multiple organ systems. The exact etiology is still not well-known. About 200 cases with heterogeneous clinical presentations have been reported worldwide.

Depurative capacity toward medium molecules of the dialyzer Toray NV-U Hydrolink™: A new hydrophilic membrane to perform online hemodiafiltration.

Introduction: New dialysis membranes with new properties are being developed to improve efficacy and tolerance. The hemocompatibility of a polymeric biomaterial is influenced by the layer of water at the blood membrane interface. The new dialyzer TORAY NV-U has a membrane Hydrolink™, designed to suppress platelet adhesion and to improve the hemocompatibility.

Assessing the opportunity for selection to impact morphological traits in crosses between two species.

Within biology, there have been long-standing goals to understand how traits impact fitness, determine the degree of adaptation, and predict responses to selection. One key step in answering these questions is to study the mode of gene action or genetic architecture of traits. The genetic architecture underlying a trait will ultimately determine whether selection can lead to a change in the phenotype.

Distally based peroneus brevis flap: Reconstruction of complex soft-tissue defects with bony infection of the lateral malleolus.

Background: Managing wounds of the lateral malleolus is challenging owing to limited nearby tissues and possibly injured or inadequate vessels for free flaps, especially in case of underlying infections. Moreover, free flaps require specialized skills and are not suitable for every patient. Therefore, identifying reliable local alternatives is crucial.

Preterm Infants' Airway Microbiome: A Scoping Review of the Current Evidence.

The aim of this scoping review was to investigate and synthesize existing evidence on the airway microbiome of preterm infants to outline the prognostic and therapeutic significance of these microbiomes within the preterm population and identify gaps in current knowledge, proposing avenues for future research. We performed a scoping review of the literature following the Arskey and O'Malley framework. In accordance with our inclusion criteria and the intended purpose of this scoping review, we identified a total of 21 articles.

Effects of paternal and chronological age on methylation and its possible role in autism.

Children from old fathers carry an increased risk for autism spectrum (ASD) and other neurodevelopmental disorders, which may at least partially be mediated by paternal age effects on the sperm epigenome. The brain enriched guanylate kinase associated (BEGAIN) protein is involved in protein-protein interactions at and transmission across synapses. Since several epigenome-wide methylation screens reported a paternal age effect on sperm methylation, here we confirmed a significant negative correlation between promoter methylation and paternal age, using more sensitive bisulfite pyrosequencing and a larger number of sperm samples.

Preschool-located influenza vaccination and influenza-like illness surveillance: an Italian pilot experience.

Background: We describe the first school-located influenza vaccination campaign with quadrivalent live-attenuated influenza vaccine (LAIV) among pre-school children in Italy, coupled with an innovative school-centred influenza-like illnesses (ILIs) surveillance using a self-sampling non-invasive saliva collection method.

Methods: The pilot study was proposed during the 2021/2022 influenza season to fifteen pre-schools in the Milan municipality. LAIV was offered directly in school to all healthy children without contraindications.

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.

Copy number variations (CNVs) play a significant role in human disease. While chromosomal microarray has traditionally been the first-tier test for CNV detection, use of genome sequencing (GS) is increasing. We report the frequency of CNVs detected with GS in a diverse pediatric cohort from the NYCKidSeq program and highlight specific examples of its clinical impact.

Central Giant Cell Reparative Granuloma (CGCRG) of the Jaw in Children Treated with Neoadjuvant Bisposphonates: Review and a Case Report.

Central giant cell reparative granuloma (CGCRG) of the jaw is a neoformation localized in the mandible or in the maxillary bone and characterized by fibrous tissue, osteoclast-like giant cells and reactive bone formation. The CGCRG is a less frequent benign tumor but sometimes it is characterized by an aggressive behavior with a very rapid growth. It affects the young adults mainly and the children occasionally.

A transposase-derived gene required for human brain development.

DNA transposable elements and transposase-derived genes are present in most living organisms, including vertebrates, but their function is largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved vertebrate DNA transposase-derived gene with retained nuclease activity in human cells. Vertebrate brain development is known to be associated with prominent neuronal cell death and DNA breaks, but their causes and functions are not well understood.

Antioxidant potential of the diet in Italian children with food allergies.

A reduced fruit and vegetable consumption, which implies a decreased intake of antioxidant compounds, seems to play a role in allergic diseases onset. Data on the antioxidant capacity of diet in children with food allergies, who are on an avoidance diet, are still lacking. This pilot study aims to assess the antioxidant potential of diet in Italian children with food allergies, compared to healthy children, using the oxygen radical absorbance capacity (ORAC) method.

Physical assessment of tortures: Interobserver analysis of medico-legal degrees of consistency based on the Istanbul protocol.

The Istanbul Protocol section on medicolegal evaluation delineates the guidelines for the correct management of the physical examination and the methods of assigning the degrees of consistency. Considering that most cases exhibit highly heterogeneous lesions, the examiner is forced to rely on his own experience, and their evaluation may be very subjective. The purpose of this work is to understand how subjective such an evaluation may be and whether the "experience" factor, interpreted as years dedicated to this profession and the number of cases evaluated, is statistically significant.

Maxillofacial Injuries in Padel Game.

Background: Maxillofacial injuries are very frequent in the sports environment. Padel is a new sport of Mexican origin, very popular in Mexico, Spain, and Italy, but with a rapid spread in Europe and other continents.

Aims: The aim of this article is to report our experience of 16 patients with maxillofacial injuries that occurred during padel matches in 2021.

The C-S Approach for The Management of Median or Paramedian Frontal Sinus Lesion.

The frontal sinus is one the most complex of the paranasal sinuses, its proximity to the cranial vault and the orbit cause that frontal sinus pathologies can progress to involve these structures and lead to significant morbidity, or even death. Surgical management of the frontal sinus is technically challenging, the most commonly used surgical approaches are coronal, butterfly, gullwing and suprabrow. The purpose of this article is to propose the C-S approach, an interesting alternative to the gullwing approach for the managing of median and paramedian frontal sinus lesions or isolated displaced fractures of the anterior wall.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Background: Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the literature.

Methods: Using exome sequencing (ES) and international data sharing, we identified 14 additional unrelated individuals with pathogenic BRWD3 variants (12 males and 2 females, including one with skewed X-inactivation). We reviewed the 31 previously published cases in the literature with clinical data available, and describe the collective phenotypes of 43 males and 2 females, with 33 different BRWD3 variants.

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

Heterozygous pathogenic variants in DNM1 cause developmental and epileptic encephalopathy (DEE) as a result of a dominant-negative mechanism impeding vesicular fission. Thus far, pathogenic variants in DNM1 have been studied with a canonical transcript that includes the alternatively spliced exon 10b. However, after performing RNA sequencing in 39 pediatric brain samples, we find the primary transcript expressed in the brain includes the downstream exon 10a instead.

Immunogenicity and effectiveness of BNT162b2 COVID-19 vaccine in a cohort of healthcare workers in Milan (Lombardy Region, Northern Italy).

Objectives: to evaluate immunogenicity and effectiveness of BNT162b2 COVID-19 vaccine in a cohort of healthcare workers (HCWs).

Design: cohort study.

Setting And Participants: in a hospital in Milan (Lombardy Region, Northern Italy) HCWs without ("negative cohort") and with ("positive cohort") history of SARS-CoV-2 infection or elevated serum antibody before the vaccination campaign (27.