Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.

Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain development, with variable degrees of severity and heterogeneous clinical features. They include intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), often coexisting with epilepsy, extra-neurological comorbidities, and multisystemic involvement. In recent years, next-generation sequencing (NGS) technologies allowed the identification of several gene pathogenic variants etiologically related to these disorders in a large cohort of affected children.

How interpersonal distance varies throughout the lifespan.

Interpersonal Distance (IPD) is defined as the physical distance that individuals maintain between themselves and others during social interactions. While literature has extensively focused on this everyday social behavior, how IPD changes throughout the lifespan remains an open question. In this study, 864 participants, aged 3-89 years, performed the Stop Distance Paradigm in their real-life environments, and we measured the distance they kept from both familiar and unfamiliar others during social interactions.

Cooperation and competition have same benefits but different costs.

Cooperation and competition shape everyday human interactions and impact individuals' chances of success in different domains. Using a virtual Stroop test, classically employed to assess general cognitive interference, we examined the impact of social context (cooperation and competition) and other's ability (higher and lower performers) on performance, perceived stress, and autonomic activity. In Experiment 1, we found that both cooperation with a lower performer and competition with a higher performer led to similar enhancement in performance.

Autoregulation Does Not Provide Additional Benefits to a Mixed Session Periodized Resistance Training Program in Trained Men.

Bartolomei, S, Francesco, L, Latini, D, and Hoffman, JR. Autoregulation does not provide additional benefits to a mixed session periodized resistance training program in trained men. J Strength Cond Res 38(9): 1535-1542, 2024-The aim of this investigation was to study how autoregulation impacted training volume, performance, and muscle size on a 10-week mixed session periodized (MSP) resistance training program, characterized by the inclusion of different training foci in each session.

An Accelerometer-Based Wearable Patch for Robust Respiratory Rate and Wheeze Detection Using Deep Learning.

Wheezing is a critical indicator of various respiratory conditions, including asthma and chronic obstructive pulmonary disease (COPD). Current diagnosis relies on subjective lung auscultation by physicians. Enabling this capability via a low-profile, objective wearable device for remote patient monitoring (RPM) could offer pre-emptive, accurate respiratory data to patients.

Analysis of survival rate and persistence predictors of baricitinib in real-world data from a large cohort of rheumatoid arthritis patients.

Objectives: The persistence in therapy of rheumatoid arthritis drugs and particularly bDMARD is a limiting factor for their long-term use. The randomized controlled trials (RCTs) may not reflect real-world contexts due to strict inclusion and exclusion criteria. Baricitinib, which targets both JAK1 and JAK2, has been used in Italy for several years.

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Pathogenic gene variants encoding nuclear pore complex (NPC) proteins were previously implicated in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). The gene, encoding nucleoporin, is related to a very rare form of SRNS with limited genotype-phenotype information. We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic pattern on electroencephalography.

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.

Background: P-21-activated kinases (PAKs) are protein serine/threonine kinases, part of the RAS/mitogen-activated protein kinase pathway. PAK1 is highly expressed in the central nervous system and crucially involved in neuronal migration and brain developmental processes. Recently, de novo heterozygous missense variants in PAK1 have been identified as an ultrarare cause of pediatric neurodevelopmental disorders.

Effects of Animal and Vegetable Proteins on Gut Microbiota in Subjects with Overweight or Obesity.

The gut microbiota plays a pivotal role in the balance between host health and obesity. The composition of the gut microbiota can be influenced by external factors, among which diet plays a key role. As the source of dietary protein is important to achieve weight loss and gut microbiota modulation, in the literature there is increasing evidence to suggest consuming more plant proteins than animal proteins.

Stiffness estimated by strain elastography reflects canine testicular spermatogenesis and histology.

Ultrasound elastography was proposed for the evaluation of testicular focal lesions, but no studies verified the agreement between the whole histological architecture of the testis and the stiffness measured by elastography. The present study explored the use of strain elastography in the evaluation of testis with normal or abnormal spermatogenesis, classified based on epididymal sperm attributes, and the consistency between elastographic parameters and the testicular histological feature. Strain elastography was performed during the routine andrological examination in 22 dogs presented for elective orchiectomy.

Urinary tract injuries during surgery for placenta accreta spectrum disorders.

Objective: The main purpose of this study was to report the incidence of lower urinary tract injuries (UTI) during cesarean section (CS) hysterectomy in cases of Placenta Accreta Spectrum (PAS) disorders. Study design Retrospective analysis including all women with a prenatal diagnosis of PAS between January 2010 and December 2020. A dedicated multidisciplinary team was involved to define a tailored management for each patient.

Incidence of ventricular arrhythmias related to COVID infection and vaccination in patients with Brugada syndrome: Insights from a large Italian multicenter registry based on continuous rhythm monitoring.

Introduction: Brugada syndrome (BrS) has a dynamic ECG pattern that might be revealed by certain conditions such as fever. We evaluated the incidence and management of ventricular arrhythmias (VAs) related to COVID-19 infection and vaccination among BrS patients carriers of an implantable loop recorder (ILR) or implantable cardioverter-defibrillator (ICD) and followed by remote monitoring.

Methods: This was a multicenter retrospective study.

Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.

Introduction: Compared with breast cancer (BC) in women, BC in men is a rare disease with genetic and molecular peculiarities. Therapeutic approaches for male BC (MBC) are currently extrapolated from the clinical management of female BC, although the disease does not exactly overlap in males and females. Data on specific molecular biomarkers in MBC are lacking, cutting out male patients from more appropriate therapeutic strategies.

Bilateral vulvar lipomas in a premenopausal woman: A case report.

Vulvar lipomas are benign mesenchymal neoplasms that are usually well defined, small and painless. They closely resemble the pathology and presentation of lipomas at other sites. They are commonly found in young and middle-aged women but can also be diagnosed in infants.

Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent.

Strain and Shear-Wave Elastography and Their Relationship to Histopathological Features of Canine Mammary Nodular Lesions.

Mammary gland tumours have a significant impact on the health of dogs, requiring diagnostic tools to support clinicians to develop appropriate therapeutic strategies. Sonoelastography is an emerging technology that is able to define the stiffness of the tissue and has promising applications in the evaluation of mammary gland lesions. In the present study, strain elastography (STE) and shear-wave (SWE) elastography were compared in 38 mammary nodular lesions for their ability to define the histopathological features of canine mammary lesions.

A Comparative Double Blind Study of Nasal Dressing Sponge versus Merocel as Nasal Pack after Nasal Surgery.

Introduction: Nasal packing is a common procedure used to ensure haemostasis after nasal surgery.

Materials And Methods: A prospective, randomized, controlled and double-blinded study was conducted on 80 consecutive subjects to investigate whether using Nasal Dressing Sponge® (NDS) instead of simple Merocel® might improve patients' postoperative experience of nasal packing.

Results: During the stay of the tampons no differences were noticed between the two groups as regards the postoperative pain.

[Respiratory disorders during sleep in patients with acute ischemic stroke].

Introduction: Sleep breathing disorders (SBD) especially obstructive hypopnea apnea syndrome (OSA) in patients with stroke are common and can complicate their evolution. The objective was analyzing the different sleep breathing disorders in patients with stroke.

Methods: Descriptive, cross-sectional and retrospective study of acute ischemic stroke patients, using nightly polysomnography with oximetry (PSG).

Identification of GOLPH3 Partners in Unveils Potential Novel Roles in Tumorigenesis and Neural Disorders.

Golgi phosphoprotein 3 (GOLPH3) is a highly conserved peripheral membrane protein localized to the Golgi apparatus and the cytosol. GOLPH3 binding to Golgi membranes depends on phosphatidylinositol 4-phosphate [PI(4)P] and regulates Golgi architecture and vesicle trafficking. GOLPH3 overexpression has been correlated with poor prognosis in several cancers, but the molecular mechanisms that link GOLPH3 to malignant transformation are poorly understood.

Placenta Accreta Spectrum Disorder in a Patient with Six Previous Caesarean Deliveries: Step by Step Management.

The definition (PAS) introduced by FIGO (International Federation of Gynaecology and Obstetrics) indicates an abnormal, pathological adherence or invasion of the placenta. The growing worldwide incidence of this pathological entity, and the possible serious correlated surgical risks, has caused a significant increase in attention among the scientific community. Previous caesarean delivery and presence of placenta previa are the main risk factors for the onset of PAS.

Detection of pathological mechano-acoustic signatures using precision accelerometer contact microphones in patients with pulmonary disorders.

Monitoring pathological mechano-acoustic signals emanating from the lungs is critical for timely and cost-effective healthcare delivery. Adventitious lung sounds including crackles, wheezes, rhonchi, bronchial breath sounds, stridor or pleural rub and abnormal breathing patterns function as essential clinical biomarkers for the early identification, accurate diagnosis and monitoring of pulmonary disorders. Here, we present a wearable sensor module comprising of a hermetically encapsulated, high precision accelerometer contact microphone (ACM) which enables both episodic and longitudinal assessment of lung sounds, breathing patterns and respiratory rates using a single integrated sensor.

Osmotic tolerance of rabbit spermatozoa is affected by extender composition and temperature.

Sperm osmotic adaptability to anisosmotic conditions is important for sperm epididymal maturation, motility activation at ejaculation, and female tract colonization, or for conducting technological procedures such as cryopreservation. Several factors affect this adaptability, including the fluid composition that contributes to water flow dynamics, and the temperature at which osmotic stress is initiated. This study was designed to investigate the effect of medium composition (electrolyte- or sugar-based extender) and temperature (25 and 5 °C) on rabbit sperm adaptability to anisosmotic conditions.

The Effects of Air Pollution, Sea Exposure and Altitude on COVID-19 Hospitalization Rates in Italy.

Early known cases of COVID-19 emerged in late 2019 in the city of Wuhan (China) and in a relatively short time, it has reached more than 200 countries up to July 2020. In Italy, from 21 February 2020, (first official Italian positive case of COVID-19) until 27 July 2020, 246,286 confirmed cases were observed of which over 68,150 (28%) needed hospitalization and 35,112 died. In recent scientific research, it has been shown that the severity of symptoms and mortality rates were different not only among the various countries of the world but also in different regions of the same country.

Pulse-wave Doppler pulsatility and resistive indexes of the testicular artery increase in canine testis with abnormal spermatogenesis.

Pulse-wave Doppler (PWD) ultrasonography of the testicular artery was recently used to compare parameters in fertile and infertile males, or males with normal and abnormal semen quality, while no studies verified the concomitant histological feature of the testis. The experimental hypothesis of the present study was that the blood flow parameters measured by PWD at different levels of the testicular artery reflect sperm attributes evaluated on spermatozoa collected from the tail of the epididymis and testicular histological characteristics. Pulse-wave Doppler parameters were recorded on both testes from 16 dogs of unknown fertility.