Glucose Metabolism, Thyroid Function, and Prolactin Level in Adolescent Patients With First Episode of Schizophrenia and Affective Disorders

Schizophrenia and affective spectrum disorders (ASD) typically begin in adolescence or early adulthood. The pathophysiological mechanisms underlying these disorders are still not fully understood, and recent studies have suggested an involvement of dysfunctions in cardiometabolic and neuroendocrine systems at the onset of both disorders. In this context, we aimed to assess thyroid function, prolactin level, glucose metabolism, and lipid profile in drug naive adolescents, comparing patients with first episode of schizophrenia spectrum disorders (SSD) and patients with ASD. We performed a retrospective chart review from inpatients aged from ten to eighteen years, referred to Child and Adolescent Psychiatric Unit of University of Bari “Aldo Moro” over a period of 4 years, with diagnosis of SSD (n=30) or ASD (n=22), according to Diagnostic and Statistical Manual for Mental Disorders-fifth edition (DSM-5) criteria. Data on serum prolactin, glucose, insulin, total cholesterol, high density lipoprotein cholesterol, low density lipoprotein cholesterol, triglycerides, thyroid stimulating hormone, free triiodothyronin, and free thyroxin were collected, and the insulin resistance (IR) indexes “HOMA1-IR“ and “HOMA2-IR” were calculated. The multivariable linear regression models, adjusting for potential confounding factors (age, sex, and BMI), showed HOMA1-IR (p=0.001), HOMA2-IR (p=0.002), glucose (p=0.004), insulin (p=0.004) and free thyroxin (p<0.001) values higher in the SSD group than in ASD. No others significant differences were found. Our findings suggest the need for a metabolic and endocrine screening at the onset of SSD and ASD, particularly for indexes of IR, that is a testable and treatable risk factor for cardiometabolic diseases. Further studies are required to better understand the role of endocrinological and metabolic dysfunctions at the onset of severe mental illness also considering influencing factors as age, gender, and BMI

Vitamin D Deficiency in Autism Spectrum Disorder: A Cross-Sectional Study

Vitamin D plays a role in central nervous system (CNS) development. Recent literature focused on Vitamin D status in children and adolescents with autism spectrum disorder (ASD), but with inconsistent results. Our case-control study is aimed at evaluating serum 25-hydroxyl-Vitamin D (25(OH)D) concentration in children with ASD (ASD group, n=54) compared to children affected by other neurological and psychiatric disorders (non-ASD group, n=36). All patients were admitted at the Complex Operative Unit of Child Neuropsychiatry, Polyclinic of Bari, Italy. 25(OH)D was quantified by chemiluminescence immunoassay and level defined as: Deficiency (<20 ng/mL); insufficiency (20-30); normality (30-100); toxicity (>100). Statistical analysis was performed using SPSS20 (significance<0.05). The ASD group showed 25(OH)D a mean level significantly lower than control (p=0.014). Multivariable logistic regression analysis showed an association between ASD and Vitamin D deficiency (p=0.006). The nature of such association is unclear. Vitamin D deficiency may probably act as a risk factor for the development of ASD. Further studies are needed to unravel the role of Vitamin D in ASD etiology and investigate its therapeutic potential

B and T Immunoregulation: A New Insight of B Regulatory Lymphocytes in Autism Spectrum Disorder

Introduction: Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by a complex pathogenesis, by impairment social communication and interaction, and may also manifest repetitive patterns of behavior. Many studies have recognized an alteration of the immune response as a major etiological component in ASDs. Despite this, it is still unclear the variation of the function of the immune response. Aim: Our aim is to investigate the levels of immunological markers in peripheral blood of children with ASD such as: regulatory B and T cells, memory B and natural killer (NK) cells. Materials and Methods: We assessed various subsets of immune cells in peripheral blood (regulatory B and T cells, B-cell memory and natural killer cells) by multi-parametric flow cytometric analysis in 26 ASD children compared to 16 healthy controls (HCs) who matched age and gender. Results: No significant difference was observed between B-cell memory and NK cells in ASDs and HCs. Instead, regulatory B cells and T cells were decreased (p < 0.05) in ASD subjects when compared to HCs. Discussion: Regulatory B and T cells have a strategic role in maintaining the immune homeostasis. Their functions have been associated with the development of multiple pathologies especially in autoimmune diseases. According to our study, the immunological imbalance of regulatory B and T cells may play a pivotal role in the evolution of the disease, as immune deficiencies could be related to the severity of the ongoing disorder

DRD1 and DRD2 Receptor Polymorphisms: Genetic Neuromodulation of the Dopaminergic System as a Risk Factor for ASD, ADHD and ASD/ADHD Overlap

The dopaminergic system (DS) is one of the most important neuromodulator systems involved in complex functions that are compromised in both autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD), conditions that frequently occur in overlap. This evidence suggests that both disorders might have common neurobiological pathways involving the DS. Therefore, the aim of this study was to examine the DRD1 and DRD2 dopamine receptor single nucleotide polymorphisms (SNPs) as potential risk factors for ASD, ADHD, and ASD/ADHD overlap. Genetic data were obtained from four groups: 75 ASD patients, 75 ADHD patients, 30 patients with ASD/ADHD overlap, and 75 healthy controls. All participants were between 2 and 17 years old. We compared the genotypic and allelic frequency of 18 SNPs among all of the study groups. Moreover, in the case of statistically significant differences, odds ratios (OR) were obtained to evaluate if the presence of SNPs might be a risk factor of developing a specific clinical phenotype. This study found that DRD1 and DRD2 receptors SNPs might be considered as potential risk factors for ASD and ADHD. However, only DRD2-12 (rs7131465) was significantly associated with a higher risk for the ASD/ADHD overlap. These data support the hypothesis of the genetic neuromodulation of the DS in the neurobiology of these conditions

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study, we have screened 16 patients affected by LI and found six new mutations: two transition/transversion (R37G, V112A), two nonsense mutations and two putative splice site both leading to a premature stop codon. The mutations are localized in exons 2 (N-terminal domain), 5, 11 (central catalytic domain), and none is located in the two beta-barrel C-terminal domains. In conclusion, this study expands the current knowledge on TGM1 mutation spectrum, increasing the characterization of mutations would provide more accurate prenatal genetic counselling for parents at-risk individuals

Statistical Multifragmentation in Central Au+Au Collisions at 35 MeV/u

Multifragment disintegrations, measured for central Au + Au collisions at E/A = 35 MeV, are analyzed with the Statistical Multifragmentation Model. Charge distributions, mean fragment energies, and two-fragment correlation functions are well reproduced by the statistical breakup of a large, diluted and thermalized system slightly above the multifragmentation threshold.Comment: Latex file, 8 pages + 4 postscript figures available upon request from [email protected]

Murge and Pre-murge in southern Italy: the last piece of Adria, the (almost) lost continent, attempting to became an aUGGp candidate (MurGEOpark)

In 2019, the executive of the Alta Murgia National Park (southeastern Italy) decided to propose its territory as possible inclusion in the network of the UNESCO Global Geoparks. Since then, in cooperation with the Department of Earth and Environmental Sciences (Aldo Moro University of Bari) and SIGEA, it is working to candidate the area as an aUGGp (called “MurGEOpark”). The MurGEOpark comprises the Alta Murgia area, where a Cretaceous sector of the Apulia Carbonate Platform crops out, and the adjacent Pre-Murge area, where the southwestward lateral continuation of the same platform, being flexed toward the southern Apennines mountain chain, is thinly covered by Plio-Quaternary foredeep deposits. The worldwide geological uniqueness is that the area is the only in situ remnant of the AdriaPlate, the old continent almost entirely squeezed between Africa and Europe. In such a contest, AltaMurgia is a virtually undeformed sector of Adria (the Apulia Foreland), while other territories of theplate are, and/or were, involved in the subduction/collision processes. In the MurGEOpark, the crustof Adria is still rooted to its mantle, and the Cretaceous evolution of the continent is spectacularlyrecorded in Alta Murgia thanks to the limestone succession of one of the largest peri-Tethyancarbonate platform (the Apulia Carbonate Platform). The MurGEOpark comprises also the Pre-Murge area, which represents the outer south-Apennines foredeep, whose Plio-Quaternaryevolution is spectacularly exposed thanks to an “anomalous” regional middle-late Quaternary uplift.The international value of the proposal is enriched by the presence of several geological singularities such as two paleontological jewels of very different age: a Neanderthal skeletonpreserved in speleothems within a karst cave, and one of the largest surfaces in the world withupper Cretaceous dinosaur tracks (about 25.000 footprints). Moreover, the close relationships between man and geology are spectacularly documented in the MurGEOpark: among the others, the use and conservation of water in a karst area, the prehistoric and ancestral choices ofurbanization, karst caves traditionally used as religious sites, etc. All these examples demonstratehow the MurGEOpark could offer a good opportunity to spread the geological culture to a wide and diverse audienc

Circumstantial Evidence for a Critical Behavior in Peripheral Au + Au Collisions at 35 MeV/nucleon

The fragmentation resulting from peripheral Au + Au collisions at an incident energy of E = 35 MeV/nucleon is investigated. A power-law charge distribution, $A^{-\tau}$ with $\tau \approx 2.2$, and an intermittency signal are observed for events selected in the region of the Campi scatter plot where "critical" behavior is expected.Comment: 11 pages, RevTex file, 4 postscript figures available upon request from [email protected]