An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.

Tubular aggregate myopathy (TAM) is a heritable myopathy primarily characterized by progressive muscle weakness, elevated levels of creatine kinase (CK), hypocalcemia, exercise intolerance, and the presence of tubular aggregates (TAs). Here, we generated a knock-in mouse model based on a human gain-of-function mutation which results in a severe, early-onset form of TAM, by inducing a glycine-to-serine point mutation in the ORAI1 pore (Orai1 or GS mice). By 8 months of age, GS mice exhibited significant muscle weakness, exercise intolerance, elevated CK levels, hypocalcemia, and robust TA presence.

Safeguarding nurses' mental health: The critical role of psychosocial safety climate in mitigating relational stressors and exhaustion.

Burnout among nurses is a pervasive concern in healthcare, with profound implications for patient care and nurse well-being. While research has highlighted the detrimental effects of burnout on many aspects of nursing, including patient safety and quality of care, the underlying mechanisms driving burnout warrant further investigation. In this cross-sectional study, we surveyed 196 nurses from diverse Italian hospitals using an online questionnaire via Qualtrics.

Isolated hypoprolactinemia: The rarest of the rare?

Isolated hypoprolactinemia (IHP) can be defined as the presence of consistently low serum levels of prolactin in the absence of other anterior pituitary hormone abnormalities. It is an extremely rare condition, and consequently incompletely understood and unrecognized. A recent study has reported the first cases of IHP caused by mutation in the PRL gene.

An Analytical Approach for Naturalistic Cooperative and Competitive EEG-Hyperscanning Data: A Proof-of-Concept Study.

Investigating the neural mechanisms underlying both cooperative and competitive joint actions may have a wide impact in many social contexts of human daily life. An effective pipeline of analysis for hyperscanning data recorded in a naturalistic context with a cooperative and competitive motor task has been missing. We propose an analytical pipeline for this type of joint action data, which was validated on electroencephalographic (EEG) signals recorded in a proof-of-concept study on two dyads playing cooperative and competitive table tennis.

HER-3 surface expression increases in advanced colorectal cancer representing a potential therapeutic target.

HER-3 (also known as ErbB-3) is a human epidermal growth factor receptor tyrosine kinases family member, and its expression in CRC (colorectal cancer) tissues was previously associated with poor prognosis. In this study, HER-3 expression was analyzed by immunohistochemistry in two cohorts of early and advanced metastatic CRC patients. The first cohort included 180 patients diagnosed with CRC in absence of lymph nodes or distant metastases (Stage I and Stage II), while the second was obtained from 53 advanced metastatic CRC patients who developed synchronous (SM) and metachronous (MM) liver metastases.

Brain dynamics of visual anticipation during spatial occlusion tasks in expert tennis players.

Stimulus identification and action outcome understanding for a rapid and accurate response selection, play a fundamental role in racquet sports. Here, we investigated the neurodynamics of visual anticipation in tennis manipulating the postural and kinematic information associated with the body of opponents by means of a spatial occlusion protocol. Event Related Potentials (ERPs) were evaluated in two groups of professional tennis players (N = 37) with different levels of expertise, while they observed pictures of opponents and predicted the landing position as fast and accurately as possible.

Neonatal cortical activity organizes into transient network states that are affected by vigilance states and brain injury.

Early neurodevelopment is critically dependent on the structure and dynamics of spontaneous neuronal activity; however, the natural organization of newborn cortical networks is poorly understood. Recent adult studies suggest that spontaneous cortical activity exhibits discrete network states with physiological correlates. Here, we studied newborn cortical activity during sleep using hidden Markov modeling to determine the presence of such discrete neonatal cortical states (NCS) in 107 newborn infants, with 47 of them presenting with a perinatal brain injury.

Neonatal Intestinal Segmental Volvulus: What Are the Differences with Midgut Volvulus?

Objective:  Intestinal volvulus in the neonate is a surgical emergency caused by either midgut volvulus (MV) with intestinal malrotation or less commonly, by segmental volvulus (SV) without intestinal malrotation. The aim of our study was to investigate if MV and SV can be differentiated by clinical course, intraoperative findings, and postoperative outcomes.

Methods:  Using a defined search strategy, two investigators independently identified all studies comparing MV and SV in neonates.

Yield of EEG features as markers of disease severity in amyotrophic lateral sclerosis: a pilot study.

Objective: To clarify the role of electroencephalography (EEG) as a promising marker of severity in amyotrophic lateral sclerosis (ALS). We characterized the brain spatio-temporal patterns activity at rest by means of both spectral band powers and EEG microstates and correlated these features with clinical scores.

Methods: Eyes closed EEG was acquired in 15 patients with ALS and spectral band power was calculated in frequency bands, defined on the basis of individual alpha frequency (IAF): delta-theta band (1-7 Hz); low alpha (IAF - 2 Hz - IAF); high alpha (IAF - IAF + 2 Hz); beta (13 - 25 Hz).

Whole exome sequencing in fetuses with isolated increased nuchal translucency: a systematic review and meta-analysis.

Objective: To estimate the incremental yield of detecting pathogenic or likely pathogenic diagnostic genetic variants (DGV) by whole exome sequencing (WES) over standard karyotype and chromosomal microarray (CMA) analyses in fetuses with isolated increased nuchal translucency (NT) and normal fetal anatomy at the time of 11-14 weeks scan.

Materials And Methods: Medline and Embase databases were searched. Inclusion criteria were fetuses with NT >95 percentile, normal karyotype and CMA and no associated structural anomalies at the time of the 11-14 weeks scan.

Protection of Mitochondrial Potential and Activity by Oxyprenylated Phenylpropanoids.

A series of five naturally occurring oxyprenylated phenylpropanoids, namely, the coumarins auraptene (7-geranyloxycoumarin) and 7-isopentenyloxycoumarin , and the coumaric acid and ferulic acid derivatives, 4'-isopentenyloxycoumaric acid , boropinic acid , and 4'-geranyloxyferulic acid were tested for their effects on mitochondrial functionality using the organophosphate pesticides glyphosate and chlorpyrifos, and resveratrol, as the reference. While not showing an appreciable in vitro antioxidant activity, and virtually no or a little effect on the viability of non-cancer cell lines BEAS-2B and SHSY-5Y, all phytochemicals exhibited a marked protective effect on mitochondrial potential and activity, with values that were comparable to resveratrol. Auraptene and 7-isopentenyloxycoumarin were seen to be the most effective secondary metabolite to this concern, in particular in being able to completely abolish the decrease of mitochondrial potential induced by increasing concentration of both glyphosate and chlorpyrifos.

Normalized compression distance to measure cortico-muscular synchronization.

The neuronal functional connectivity is a complex and non-stationary phenomenon creating dynamic networks synchronization determining the brain states and needed to produce tasks. Here, as a measure that quantifies the synchronization between the neuronal electrical activity of two brain regions, we used the normalized compression distance (NCD), which is the length of the compressed file constituted by the concatenated two signals, normalized by the length of the two compressed files including each single signal. To test the NCD sensitivity to physiological properties, we used NCD to measure the cortico-muscular synchronization, a well-known mechanism to control movements, in 15 healthy volunteers during a weak handgrip.

Brain electrical microstate features as biomarkers of a stable motor output.

The aim of the present study was to elucidate the brain dynamics underlying the maintenance of a constant force level exerted during a visually guided isometric contraction task by optimizing a predictive multivariate model based on global and spectral brain dynamics features.Electroencephalography (EEG) was acquired in 18 subjects who were asked to press a bulb and maintain a constant force level, indicated by a bar on a screen. For intervals of 500 ms, we calculated an index of force stability as well as indices of brain dynamics: microstate metrics (duration, occurrence, global explained variance, directional predominance) and EEG spectral amplitudes in the theta, low alpha, high alpha and beta bands.

Aging and Psychological Well-Being: The Possible Role of Inhibition Skills.

(1) Background: Psychological well-being (PWB) is a multidimensional construct which is a key protective factor against chronic diseases in older adults. Numerous psychological and cognitive factors can influence older people's PWB. However, while most studies have explored the effect of general cognition, only a few investigated the role of specific cognitive functions such as the efficiency of executive functions.

Analysis of the miRNA expression from the adipose tissue surrounding the adrenal neoplasia.

Background: Primary aldosteronism (PA) is characterized by several metabolic changes such as insulin resistance, metabolic syndrome, and adipose tissue (AT) inflammation. Mi(cro)RNAs (miRNAs) are a class of non-coding small RNA molecules known to be critical regulators in several cellular processes associated with AT dysfunction. The aim of this study was to evaluate the expression of some miRNAs in visceral and subcutaneous AT in patients undergoing adrenalectomy for aldosterone-secreting adrenal adenoma (APA) compared to the samples of AT obtained in patients undergoing adrenalectomy for non-functioning adrenal mass (NFA).

A graph convolutional neural network for the automated detection of seizures in the neonatal EEG.

Background And Objective: Neonatal seizures are the most common clinical presentation of neurological conditions and can have adverse effects on the neurodevelopment of the neonatal brain. Visual detection of these events from continuous EEG recordings is a laborious and time-consuming task. We propose a novel algorithm for the automated detection of neonatal seizures.

Air transport and mood in younger generations: The role of travel significance and COVID-19.

The purpose of this paper is to investigate the relationship between mood and air travel choices, considering the role of travel significance and the influence that COVID-19 may have on younger generations' choices. Using a mixed-methods sequential exploratory design, a sample of 1,111 Italian respondents, belonging to younger generations is investigated. The data are analysed using a quantile regression with group effects considering attitudes towards COVID-19.

Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study.

Background: Outcome of patients operated for anorectal malformation (ARM) type rectovestibular fistula (RVF) is generally considered to be good. However, large multi-center studies are scarce, mostly describing pooled outcome of different ARM-types, in adult patients. Therefore, counseling parents concerning the bowel function at early age is challenging.