Oral Health and Quality of Life in People with Autism Spectrum Disorder.

This article delves into the intricate relationship between oral health, quality of life, and behavioral characteristics in individuals with autism spectrum disorder (ASD). Autism has been associated with various challenges, and this study seeks to elucidate the impact of ASD on oral health outcomes and overall well-being. The research focuses on assessing overall oral health by evaluating various parameters, such as the condition of lips, tongue, gums and tissues, natural teeth, dentures, oral hygiene, and dental pain in individuals with ASD.

Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice.

Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We previously observed in a Spg11 knockout mouse that neurodegeneration is associated with accumulation of gangliosides in lysosomes. To test whether a substrate reduction therapy could be a therapeutic option, we downregulated the key enzyme involved in ganglioside biosynthesis using an AAV-PHP.

Implementation of the International Classification of Diseases 11th revision behavioural indicators for disorders of intellectual development with co-occurring autism spectrum disorder.

Background: The classification of mental, behavioural and neurodevelopmental disorders in the World Health Organization's International Classification of Diseases 11th revision (ICD-11) includes a comprehensive set of behavioural indicators (BIs) within the neurodevelopmental disorders grouping. BIs can be used to assess the severity of disorders of intellectual development in situations in which standardised measures of intellectual functioning and adaptive behaviours are not available or feasible. This international study examines the implementation characteristics of the BIs and compares them to standardised measures for assessing the severity of intellectual impairment and adaptive behaviours in disorders of intellectual development and autism spectrum disorder (ASD).

Pharmacokinetic parameters of CAZ-AVI in the normal lung and in models of pneumonia: lessons for treatment optimization in critical care.

The spread of multidrug-resistant Gram-negative bacterial infections is a significant issue for worldwide public health. Gram-negative organisms regularly develop resistance to antibiotics, especially to β-lactam antimicrobials, which can drastically restrict the number of therapies. A third-generation cephalosporin and the non-β-lactam β-lactamase inhibitor avibactam, which exhibits broad-spectrum β-lactamase inhibition , are combined to form ceftazidime-avibactam (CAZ-AVI).

The Intellectual Profile of Adults with Specific Learning Disabilities.

Despite growing research on adults with specific learning disabilities (SLDs), evidence concerning their intellectual profile remains scarce. The present study examined the results of the administration of the Wechsler Adult Intelligence Scale-Fourth Edition to 301 adults diagnosed with SLDs and compared them to the results obtained from previous studies with a large sample of children with SLDs. The results showed that: (1) as observed among children, adults with SLDs also presented higher scores in the subtests implying reasoning (associated with the General Ability Index, GAI) and lower scores in the subtests involving working memory and processing speed; (2) the discrepancy between full-scale IQ and the GAI had a good predictive value in discriminating adults with and without SLDs; (3) the four-factor hierarchical structure of intelligence proposed for the general adult population held for adults with SLDs as well, even though there were substantial differences in the loadings and a five-factor structure could be more appropriate; (4) similarities as well as strong differences were present between adults and children with SLDs.

Maltreatment experiences and mental health indicators among elite athletes.

This study explored the relationships between athletes' experiences of maltreatment and mental health indicators. Canadian National Team athletes completed an online, anonymous survey that assessed reported experiences of maltreatment (psychological, physical, sexual harm and neglect), and mental health indicators of well-being, eating disorders and self-harming behaviours. All forms of maltreatment had a significant, positive correlation with eating disorder and self-harming behaviours, and a negative correlation with well-being.

Pharyngocutaneous Fistula in Salvage Laryngectomy: Use of the Stapler Versus Manual Suturing Technique.

A pharyngocutaneous fistula (PCF) is the most common complication after salvage total laryngectomy (STL) with an incidence ranging from 5 to 73%, causing an increase in morbidity and delaying the patient's recovery. A surgical technique to prevent PCF formation is the use of the stapler to suture the pharyngeal mucosa.  We have reviewed the medical files of 91 patients who had undergone STL, dividing the patients into two groups (manual suture vs.

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.

: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and genetic component is one of the underlying causes of SLD, but the relationship between genes and the environment should be considered. Several genetic studies were performed in different populations to identify causative genes.

BL-MOL-AR Project, Preliminary Results about Liquid Biopsy: Molecular Approach Experience and Research Activity in Oncological Settings.

 Liquid biopsy is mainly used to identify tumor cells in pulmonary neoplasms. It is more often used in research than in clinical practice. The BL-MOL-AR study aims to investigate the efficacy of next-generation sequencing (NGS) and clinical interpretation of the circulating free DNA (cfDNA) levels.

Nutrition support for critically ill patients during the COVID-19 pandemic: the Italian SIAARTI survey.

Background: Critically ill, COVID-19 patients are characterized by a hypermetabolic state and a reduced food intake and are at high risk of malnutrition and lean body mass loss. An appropriate metabolic-nutritional intervention aims to reduce complications and improve the clinical outcomes. We conducted a cross-sectional, multicenter, observational, nationwide online survey involving Italian Intensivists to assess the nutritional practices in critically ill patients with COVID-19.

Diffuse Idiopathic Skeletal Hyperostosis (DISH): Role of Logopedic Rehabilitation in Dysphagia.

Forestier's disease is a systemic, degenerative metabolic condition, which is still insufficiently investigated and understood, characterized by the progressive ossification of the ligaments and entheses. This case describes a 63-year-old man admitted to our department after several years of failed attempts to obtain a definitive diagnosis presenting with a painless mass in the pre-auricular region, gradually worsening dysphonia, severe dysphagia relating to solids, stiffness, and mild pain at the back of the neck. After performing further diagnostic tests, in addition to a pleomorphic adenoma, the simultaneous presence of diffuse spondylarthrosis on the cervical spine was highlighted, with beak-like osteophytes at C2-C5 resulting in esophageal compression.

NTRK gene aberrations in triple-negative breast cancer: detection challenges using IHC, FISH, RT-PCR, and NGS.

Triple-negative breast cancer (TNBC) is usually an aggressive disease with a poor prognosis and limited treatment options. The neurotrophic tyrosine receptor kinase (NTRK) gene fusions are cancer type-agnostic emerging biomarkers approved by the Food and Drug Administration (FDA), USA, for the selection of patients for targeted therapy. The main aim of our study was to investigate the frequency of NTRK aberrations, i.

Attentional Control Moderates the Relation between Sympathy and Ethical Guilt.

In response to ethical transgressions, some children respond with ethical guilt (e.g., remorse), while others do not.

Spelling deficits in children with intellectual disabilities: Evidence from a regular orthography.

Introduction: In individuals with intellectual disabilities (ID), efficient reading and writing skills promote social integration, self-autonomy, and independence. However, research has mainly focused on reading skills, while evidence on spelling skills is scarce and mostly on English-speaking subjects. In the present research project, we compared the spelling skills of children with intellectual disabilities (ID) learning in Italian, a regular orthography, to those of typically developing children matched for school level.

Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion.

The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor cognitive, adaptive, and academic skills.

Dental Erosion Evaluation with Intact-Tooth Smartphone Application: Preliminary Clinical Results from September 2019 to March 2022.

Dental erosion is a process of deterioration of the dental hard tissue; it is estimated that about 30% of permanent teeth are affected in adolescence. The Intact-Tooth application allows for the better estimation of the problem, inserting itself in the diagnosis process, and better care and prevention for the patient. It provides him with scientifically validated protocols, which the patient can consult at any time.

The structure, profile, and diagnostic significance of intelligence in children with ADHD are impressively similar to those of children with a specific learning disorder.

This study examines the structure, profile, and diagnostic significance of intelligence in a group of 948 children diagnosed with attention deficit/hyperactivity disorder (ADHD) assessed with the WISC-IV and compared with children with specific learning disorders (SLDs) and with typically developing children. Based on four indexes, the WISC-IV configuration found in TD resulted applicable to ADHD, but with generally lower loadings on g. The Perceptual Reasoning and Verbal Comprehension indexes not only had higher loadings compared to the other two indexes but also represented the relative strengths of children with ADHD, as previously observed for children with SLD.

Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy.

Generating reliable preclinical data in animal models of disease is essential in therapy development. Here, we performed statistical analysis and joint longitudinal-survival modeling of the progressive phenotype observed in Mtm1-/y mice, a reliable model for myotubular myopathy. Analysis of historical data was used to generate a model for phenotype progression, which was then confirmed with phenotypic data from a new colony of mice derived via in vitro fertilization in an independent animal house, highlighting the reproducibility of disease phenotype in Mtm1-/y mice.

Antimicrobial Susceptibility Survey of Invasive Haemophilus influenzae in the United States in 2016.

Antibiotics are important for the treatment and prevention of invasive Haemophilus influenzae disease. Reduced susceptibility to clinically relevant drugs, except ampicillin, has been uncommon in the United States. Susceptibility of 700 invasive H.

BIN1 modulation in vivo rescues dynamin-related myopathy.

The mechanoenzyme dynamin 2 (DNM2) is crucial for intracellular organization and trafficking. is mutated in dominant centronuclear myopathy (DNM2-CNM), a muscle disease characterized by defects in organelle positioning in myofibers. It remains unclear how the in vivo functions of DNM2 are regulated in muscle.

Italian Diagnostic Adaptive Behavior Scale: Reliability and diagnostic accuracy compared with the Vineland-II.

Background: The Diagnostic Adaptive Behavior Scale (DABS) is a short scale with excellent properties to assess the conceptual, social, and practical adaptive behavior domains for the diagnosis of intellectual disability (ID) in individuals aged 4-21 years.

Aims: Investigate the test-retest and inter-respondent reliability of the Italian adaptation of the DABS, verify its diagnostic accuracy in identifying individuals with ID and excluding individuals with typical development (TD), and compare its psychometric properties to those of the Vineland-II.

Methods: Test-retest reliability: The same respondent completed the Italian DABS for the same assessed person at two separate times (n = 71).