Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Achaete-Scute Family basic-helix-loop-helix (bHLH) Transcription Factor 1 (ASCL1) is a proneural transcription factor involved in neuron development in the central and peripheral nervous system. While initially suspected to contribute to congenital central hypoventilation syndrome-1 (CCHS) with or without Hirschsprung disease (HSCR) in three individuals, its implication was ruled out by the presence, in one of the individuals, of a Paired-like homeobox 2B (PHOX2B) heterozygous polyalanine expansion variant, known to cause CCHS. We report two additional unrelated individuals sharing the same sporadic ASCL1 p.

A deep learning latent variable model to identify children with autism through motor abnormalities.

Introduction: Autism Spectrum Disorder (ASD) is a by-birth neurodevelopmental disorder difficult to diagnose owing to the lack of clinical objective and quantitative measures. Classical diagnostic processes are time-consuming and require many specialists' collaborative efforts to be properly accomplished. Most recent research has been conducted on automated ASD detection using advanced technologies.

Risk Factors Associated with Traumatic Brain Injury and Implementation of Guidelines for Requesting Computed Tomography After Head Trauma Among Children in France.

Importance: Pediatric traumatic brain injuries (TBIs) are a leading cause of death and disability. The Pediatric Emergency Care Applied Research Network (PECARN) guidelines provide a framework for requesting head computed tomography (HCT) after pediatric head trauma (PHT); however, quantitative data are lacking regarding both TBIs found on HCT and justification of the HCT request according to the PECARN guidelines.

Objectives: To evaluate the types, frequencies, and risk factors for TBIs on HCT in children referred to emergency departments (EDs) who underwent HCT for PHT and to evaluate quality of HCT request.

Examining Predictors of Different ABA Treatments: A Systematic Review.

In the recent literature, there is a broad consensus on the effectiveness of Applied Behavior Analysis interventions for autism spectrum disorder (ASD). Despite their proven efficacy, research in clinical settings shows that these treatments are not equally effective for all children and the issue of which intervention should be chosen for an individual remains a common dilemma. The current work systematically reviewed studies on predictors and moderators of response to different types of evidence-based treatment for children with ASD.

Age-Related Differences in Psychological Distress during the COVID-19 Pandemic.

While the negative impact of COVID-19 total lockdown on mental health in youth has been extensively studied, findings collected during subsequent waves of the pandemic, in which restrictive rules were more eased, are very sparse. Here, we explore perceived psychological distress during the partial lockdown of the third wave in Southern Italy in a large sample of students, focusing on age and gender differences. Also, we assessed whether attending the type of education could have a protective role on students' psychological well-being.

Children on the Autism Spectrum and the Use of Virtual Reality for Supporting Social Skills.

Background: Autism spectrum disorders (ASDs) are characterized by differences in socio-pragmatic communication. These conditions are allocated within a "spectrum" of phenotypic variability. Virtual reality (VR) is a useful tool for healthcare intervention and particularly safely advancing social abilities in children with ASD.

The best prostate biopsy sampling system-fusion and systematic biopsy: A single center experience.

Background: Prostate cancer is the second most commonly diagnosed cancer in men. The diagnostic accuracy in prostate cancer can be increased by employing a preliminary multiparametric MRI followed by a fusion-targeted biopsy.

Methods: To compare the diagnostic accuracy of fusion-targeted biopsy with the standard systematic biopsy in prostate cancer patients, we enrolled 139 patients on which we performed 139 prostate biopsies consisting of three targeted samples followed by 12 regular systematic samples.

Phantom Phone Signal: why it should be of interest for psychiatry.

Phantom Phone Signal (PPS) refers to the false perception of a mobile phone ringing, vibrating and blinking, when in fact it did not. A recent literature about PPS is growing, parallel to an increasing interest about its possible psychopathological implications. The present review aims to synthesize the current knowledge about the phenomenon, and to present a conceptual framework that integrates PPS as a putative index of psychopathology.

Using Technology to Identify Children With Autism Through Motor Abnormalities.

Autism is a neurodevelopmental disorder typically assessed and diagnosed through observational analysis of behavior. Assessment exclusively based on behavioral observation sessions requires a lot of time for the diagnosis. In recent years, there is a growing need to make assessment processes more motivating and capable to provide objective measures of the disorder.

Video Modeling and Social Skills Learning in ASD-HF.

Autism spectrum disorders represent a heterogeneous group of clinical situations, and are mainly represented by a deficit of social communication. In this study, we compare two strategies to enhance communicative/social skills, namely self-video modeling and peer video modeling. The subjects were divided into two groups treated via the method of self-video modeling (group 1) or peer video modeling (group 2).

Emotional Education in Early Onset Schizophrenia and Asperger's Syndrome.

In this study, we aim to verify how emotional training can improve empathy and theory of mind (ToM) in patients diagnosed with early onset schizophrenia and Asperger's syndrome. The study design includes 100 subjects divided into two experimental groups and two control groups. The two experimental groups followed a rational emotive behavior therapy (REBT) protocol.

On the Edge Between Digital and Physical: Materials to Enhance Creativity in Children. An Application to Atypical Development.

The 4 P's creativity model (person, process, press, and product) underlines how creativity is strongly connected with the materials employed to conceive and realize a creative outcome. As a multiform construct, it invites a wide variety of approaches to the study of it. One of the most promising ways to address this issue is to connect it with cognitive development and related educational pathways, as creativity can be enhanced and stimulated in every child, leading to an improvement both at personal and societal level.

Variations in sleep associated with different types of hormonal contraceptives.

Progesterone and some of its metabolites are neuroactive steroids that affect sleep by increasing melatonin secretion and stimulating GABA-A receptors. The effect of progestogens in hormonal contraceptives on sleep has not been thoroughly investigated. This observational study assessed possible associations in sleep changes induced by estrogen-progestogens in contraceptives in 108 women between the ages of 20 and 50 years.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, and pathogenic gain-of-function variants in this gene have been associated with a dominant form of generalized epilepsy and paroxysmal dyskinesia. Here, we genetically and functionally characterize eight novel loss-of-function (LoF) variants of KCNMA1. Genome or exome sequencing and the participation in the international Matchmaker Exchange effort allowed for the identification of novel KCNMA1 variants.

Diffusion-weighted magnetic resonance imaging of the fetal brain in intrauterine growth restriction.

Objective: Diffusion-weighted magnetic resonance imaging (DWI) is a sensitive method for assessing brain maturation and detecting brain lesions, providing apparent diffusion coefficient (ADC) values as a measure of water diffusion. Abnormal ADC values are seen in ischemic brain lesions, such as those associated with acute or chronic hypoxia. The aim of this study was to assess whether ADC values in the fetal brain were different in fetuses with severe intrauterine growth restriction (IUGR) compared with normal controls.

Safety and efficacy of one-stage total laparoscopic treatment of common bile duct stones in children.

Background: The purpose of this study is to confirm the effectiveness of total laparoscopic treatment of common bile duct (CBD) stones in children.

Methods: All children who were treated in our department for cholelithiasis were reviewed from 1996 to 2013. Data collection focused on children with CBD stones, including age, sex, symptoms at diagnosis, hepatic and pancreatic blood tests results, US scan results, etiology, detailed surgical technique, operative time, length of hospital stay, complications, and stone-free status or not, at last follow-up.

Findings in patients from Benin with osteomyelitis and polymerase chain reaction-confirmed Mycobacterium ulcerans infection.

Background: Mycobacterium ulcerans is known to cause Buruli ulcer (BU), a necrotizing skin disease leading to extensive cutaneous and subcutaneous destruction and functional limitations. However, M. ulcerans infections are not limited to skin, and osteomyelitis, still poorly described in the literature, occurs in numerous young patients in Africa.

Plasmacytoid dendritic cells play a key role in tumor progression in lipopolysaccharide-stimulated lung tumor-bearing mice.

The antitumor activity of LPS was first described by Dr. William Coley. However, its role in lung cancer remains unclear.

Plasmacytoid dendritic cells and their therapeutic activity in cancer.

In the last decade several studies provided evidence that plasmacytoid dendritic cells (pDCs) infiltrate human neoplasms with poor prognosis. However, the role of tumor-associated pDCs remains controversial. Various studies indicate that pDCs play an immuno-suppressive role and facilitate tumor progression in both animal models and humans.

Polyinosinic-polycytidylic acid limits tumor outgrowth in a mouse model of metastatic lung cancer.

Polyinosinic-polycytidylic acid (poly I:C), a TLR3 ligand, is currently being tested in human clinical trials as an adjuvant to anti-cancer vaccines and in combination with other therapies. However, little is known about its activity in established pulmonary metastasis. The aim of our study was to elucidate the effect of poly I:C (1, 10, or 100 μg/mouse) in a mouse model of B16-F10-induced metastatic lung cancer.

The role of directional power Doppler in early detection of the onset of neoangiogenesis in a case of small hyperechoic renal lesion.

Case Report: A small hyperechoic renal mass was detected in a 57 year old female. This renal mass was further characterized by the absence of peripheral or intratumoral vascularity using directional power Doppler (dpD); however, there were intralesion spots colored after Levovist (pattern 1, according to Jinzaki). By computer tomography (CT) scan, the renal mass was considered a benign lesion.

Microbiology and antibiotic sensitivities of head and neck space infections of odontogenic origin.

Purpose: The purpose of this study is to assess the anatomical spaces and causative micro-organisms responsible for deep fascial space head and neck infections and evaluate the resistance of antibiotics used in the treatment of these infections.

Patients And Methods: A 6-year retrospective study evaluated hospital records of 103 patients. All patients in this study underwent surgical incision and drainage, received IV antibiotics, and had culture and sensitivity performed.