Measuring subthreshold autistic traits in the general population: Psychometric properties of the Adult Autism Subthreshold Spectrum (AdAS Spectrum) scale.

The Adult Autism Subthreshold Spectrum (AdAS Spectrum) has been developed to assess the wide spectrum of autistic-like clinical and non-clinical features in adults. Nevertheless, its psychometric properties have been analyzed only with clinical individuals so far. This study was aimed at investigating the dimensionality, reliability and validity of the AdAS Spectrum on a non-clinical sample.

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Objective: Next-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition.

Methods: Sixty-six patients with undiagnosed asymptomatic or paucisymptomatic hyperCKemia, referred to tertiary neuromuscular centers over an approximately 2-year period, were analyzed using a customized, targeted sequencing panel able to investigate the coding exons and flanking intronic regions of 78 genes associated with limb-girdle muscular dystrophies, rhabdomyolysis, and metabolic and distal myopathies.

Results: A molecular diagnosis was reached in 33 cases, corresponding to a positive diagnostic yield of 50%.

From unfractionated heparin to pentasaccharide: Paradigm of rigorous science growing in the understanding of the in vivo thrombin generation.

Following a chance discovery made by a medical student who was searching for a clot-promoting activity in tissue extracts, it took 15-20 years to attain the therapeutic use of standard unfractionated heparin (UFH), due to problems with the purification and extraction of the active material. Soon it was found that: 1) thrombin inactivation by UFH was associated with the formation of molecular complexes between antithrombin and the activated forms of factor X (FXa) and thrombin, 2) low-molecular-weight fractions of UFH lose their antithrombin activity while still interacting with FXa, 3) a pentasaccharide sequence of UHF increases FXa (but not thrombin) inactivation by antithrombin. Low-molecular-weight heparins (LMWHs) with little effect on thrombin and strongly active versus FXa were then developed.

Polypoid Atypical Spitz Tumor With a Fibrosclerotic Stroma, CLIP2-BRAF Fusion, and Homozygous Loss of 9p21.

We report a case of a polypoid atypical Spitz tumor with a prominent fibrosclerotic stromal component, harboring a CLIP2-BRAF fusion, which has hitherto been not reported in melanocytic lesions. The neoplasm occurred in a 78-year-old male patient and appeared microscopically as a predominantly dermal, barely symmetrical, polypoid lesion composed mainly of epithelioid cells showing moderate degree of nuclear pleomorphism with ample amphophilic cytoplasm arranged in nests, fascicles, or single units. The mitotic rate was 2/mm, and the mitoses were confined to the upper portion of the lesion.

Impulse control disorders in Parkinson's disease versus in healthy controls: A different predictive model.

Impulse control disorders (ICDs), including compulsive gambling, buying, sexual behaviour and eating, are not only a severe disorder that can affect the general, non-clinical population, but also a serious, increasingly recognized psychiatric complication in Parkinson's disease (PD). Previous research detected some risk factors for their occurrence in PD patients and in the general population, including impulsivity. However, impulsivity is a multidimensional construct that comprises several aspects, including reflection impulsivity and delay discounting.

End of season influenza vaccine effectiveness in adults and children in the United Kingdom in 2017/18.

BackgroundIn the United Kingdom (UK), in recent influenza seasons, children are offered a quadrivalent live attenuated influenza vaccine (LAIV4), and eligible adults mainly trivalent inactivated vaccine (TIV).AimTo estimate the UK end-of-season 2017/18 adjusted vaccine effectiveness (aVE) and the seroprevalence in England of antibodies against influenza viruses cultured in eggs or tissue.MethodsThis observational study employed the test-negative case-control approach to estimate aVE in primary care.

Influenza vaccine effectiveness against hospitalisation due to laboratory-confirmed influenza in children in England in the 2015-2016 influenza season - a test-negative case-control study.

England has recently started a new paediatric influenza vaccine programme using a live-attenuated influenza vaccine (LAIV). There is uncertainty over how well the vaccine protects against more severe end-points. A test-negative case-control study was used to estimate vaccine effectiveness (VE) in vaccine-eligible children aged 2-16 years of age in preventing laboratory-confirmed influenza hospitalisation in England in the 2015-2016 season using a national sentinel laboratory surveillance system.

Spitz Tumors With ROS1 Fusions: A Clinicopathological Study of 6 Cases, Including FISH for Chromosomal Copy Number Alterations and Mutation Analysis Using Next-Generation Sequencing.

Spitz tumors represent a heterogeneous group of melanocytic neoplasms with a spectrum of biological behavior ranging from benign (Spitz nevus) to malignant (spitzoid melanoma). Prediction of the behavior of these lesions based on their histological presentation is not always possible. Recently, mutually exclusive activating kinase fusions, involving ALK, NTRK1, NTRK3, RET, MET, ROS1, and BRAF, have been found in a subset of spitzoid lesions.

Using the Short Form of the MSBS to Assess State Boredom Among Adolescents: Psychometric Evidence by Applying Item Response Theory.

The (MSBS) is widely used, but evidence regarding its psychometric properties among adolescents is lacking. In particular, the functioning of the scale across genders is unknown. As a result, we used item response theory (IRT) to investigate gender invariance of the Short Form of the MSBS (MSBS-SF) among adolescents.

Machine Learning Approaches for the Estimation of Biological Aging: The Road Ahead for Population Studies.

In recent years, different machine learning algorithms have been developed for the estimation of Biological Age (BA), defined as the hypothetical underlying age of an organism. BA can be computed based on different circulating and non-circulating biomarkers. In this perspective, identifying biomarkers with a prominent influence on BA and developing reliable models for its estimation is of fundamental importance for monitoring healthy aging, and could provide new tools to screen health status and the risk of clinical events in the general population.

Parenting Stress, Sleep, and Psychological Adjustment in Parents of Infants and Toddlers With Congenital Heart Disease.

Objective: Parents of children with chronic medical needs report increased parenting challenges, poor sleep, and maladjustment. The impact of parenting stress on both sleep and adjustment has yet to be evaluated for parents of infants and young children with congenital heart disease (CHD). We studied the relations among parenting stress, sleep, and adjustment in parents of infants and toddlers with CHD.

Vision-related quality of life and locus of control in type 1 diabetes: a multicenter observational study.

Aims: Diabetic retinopathy remains asymptomatic until its late stages but remains a leading cause of vision impairment and blindness. We studied quality of life and the ability to deal with the discomfort deriving from the presence of a chronic disease in patients with type 1 diabetes and different stages of retinopathy.

Methods: Multicenter collaborative observational study involving nine centers screening for retinopathy in different areas of Italy.

Correction to: Newborn screening in mucopolysaccharidoses.

The original article contains an unintended omission of a statement of competing interests. As such, the authors would like to declare the following complete statement of competing interests.

The influence of centrifugation and incubation temperatures on various veterinary and human chlamydial species.

The Chlamydiaceae are Gram-negative bacteria causing diseases in humans and in both, endothermic (mammals and birds) and poikilothermic (e.g. reptiles, amphibians) animals.

Impulse control disorders in Parkinson's disease: A systematic review on the psychometric properties of the existing measures.

Background: A significant percentage of patients suffering from Parkinson's Disease (PD) experience Impulse Control Disorders (ICDs), contributing to reduced quality of life. As they can be managed by reducing the dopamine dosage, the detection of their presence is crucial for PD treatment plan. Nevertheless, they tend to be under-recognized in clinical practice, since routine screening is not common-despite existing instruments that may support clinicians.

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Objective: Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in childhood and progressing relentlessly. We investigated the safety and efficacy of deoxynucleoside monophosphate and deoxynucleoside therapies.

ZBTB12 DNA methylation is associated with coagulation- and inflammation-related blood cell parameters: findings from the Moli-family cohort.

Background: Zinc finger and BTB domain-containing protein 12 (ZBTB12) is a predicted transcription factor with potential role in hematopoietic development. Recent evidence linked low methylation level of ZBTB12 exon1 to myocardial infarction (MI) risk. However, the role of ZBTB12 in the pathogenesis of MI and cardiovascular disease in general is not yet clarified.

The Conners 3-short forms: Evaluating the adequacy of brief versions to assess ADHD symptoms and related problems.

The Conners' Rating Scales are widely used to assess attention deficit/hyperactivity disorder (ADHD) and related difficulties in children and adolescents. A short form of the scales is available, which, along with the several advantages of brief versions, also displays good psychometric properties. Nonetheless, no studies have confirmed them in cultural contexts different from the original one.

Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.

Mucopolysaccharidosis type I (MPS-I) is a severe genetic disease caused by a deficiency of the alpha-L-iduronidase (IDUA) enzyme. Ex vivo hematopoietic stem cell (HSC) gene therapy is a promising therapeutic approach for MPS-I, as demonstrated by preclinical studies performed in naive MPS-I mice. However, after enzyme replacement therapy (ERT), several MPS-I patients develop anti-IDUA immunity that may jeopardize ex vivo gene therapy efficacy.

Lifestyle and biological factors influence the relationship between mental health and low-grade inflammation.

Mental health modulates the risk of common chronic conditions. Although inflammation is thought to partly explain this link, its relation with mental health is still unclear and largely unexplored. We investigated three scales assessing psychological resilience (CD-RISC), depression symptoms (PHQ9-6) and mental wellbeing (SF36-MCS) in an Italian adult population cohort (N = 16,952).

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism, including ELAC2. The ELAC2 gene codes for the mitochondrial RNase Z, responsible for endonucleolytic cleavage of the 3' ends of mitochondrial pre-tRNAs.

Simkania negevensis in Crohn's Disease.

Background: Simkania negevensis is an obligate intracellular Gram-negative bacterium (family Simkaniaceae, order Chlamydiales) that has been isolated from domestic and mains water supplies, is able to infect human macrophages, and can induce an inflammatory response in the host.

Methods: From June to December 2016, in a single-center observational study, colonic Crohn's disease patients and controls (subjects undergoing screening for colorectal cancer) underwent blood tests to identify serum-specific immunoglobulin G (IgG) and immunoglobulin A (IgA) to S. negevensis and a colonoscopy with biopsies for detection of S.

Measuring Test Anxiety With an Invariant Measure Across Genders: The Case of the .

Since test performance is increasingly relevant in educational and occupational circles, the assessment of test anxiety-the phenomenological, physiological, and behavioral responses to the negative consequences that often emerge in evaluative situations-has become increasingly important to scholars and practitioners. One of the most widely employed scales to measure test anxiety in adolescents is the (in German: Prufungsangstfragebogen, PAF). The current study investigated the psychometric properties of the PAF when administered to Italian students.