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

Background and Objectives: 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. Materials and Methods: Here, we show the analysis of 9 multiplex families with at least 2 individuals diagnosed with SLD per family, with a total of 37 persons, 21 of whom are young subjects with SLD, by means of Next-Generation Sequencing (NGS) to identify possible causative mutations in a panel of 15 candidate genes: CCPG1, CYP19A1, DCDC2, DGKI, DIP2A, DYM, GCFC2, KIAA0319, MC5R, MRPL19, NEDD4L, PCNT, PRMT2, ROBO1, and S100B. Results: We detected, in eight families out nine, SNP variants in the DGKI, DIP2A, KIAA0319, and PCNT genes, even if in silico analysis did not show any causative effect on this behavioral condition. In all cases, the mutation was transmitted by one of the two parents, thus excluding the case of de novo mutation. Moreover, the parent carrying the allelic variant transmitted to the children, in six out of seven families, reports language difficulties. Conclusions: Although the present results cannot be considered conclusive due to the limited sample size, the identification of genetic variants in the above genes can provide input for further research on the same, as well as on other genes/mutations, to better understand the genetic basis of this disorder, and from this perspective, to better understand also the neuropsychological and social aspects connected to this disorder, which affects an increasing number of young people.

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

A deletion of one of the two copies of the 9-bp tandem repeat sequence (CCCCCTCTA), in the small non-coding/untranslated segment located between the cytochrome oxidase II and lysine tRNA genes of mitochondrial DNA (mtDNA), has previously been used as a polymorphic anthropological marker (MIC9D) for people of Africa and Asia, but it has been rarely reported in Europe. 32 Sicilian patients with syndromic hearing loss, negative for mutations in GJB2 and GJB6 genes, were tested for mtDNA known point mutations associated with syndromic or non-syndromic hearing loss by RFLP and/or direct sequencing. We identified the presence of the MIC9D in homoplasmy in lymphocytes and muscle of three subjects with sensorineural hearing loss and encephalomyopathy, two of these also presented moderate mental retardation. This deletion was absent in 300 Caucasian controls. Although further studies are warranted, our results suggest that the MIC9D polymorphism could have a susceptibility role in Caucasus, such as Sicily population.

First Toxicological Analysis of the Pufferfish Sphoeroides pachygaster Collected in Italian Waters (Strait of Sicily): Role of Citizens Science in Monitoring Toxic Marine Species.

Pufferfish (Tetraodontidae) inhabiting the Mediterranean Sea may represent an emerging public health risk due to the possible accumulation of marine neurotoxins such as tetrodotoxin (TTXs) and saxitoxin (STXs) in their tissues. In this study, the presence of pufferfish species in the Strait of Sicily (Lampedusa Island, Italy) was investigated using a citizen science (CS) approach, involving local fishermen. Samples (liver, intestine, gonads, muscle, skin) from 20 specimens were sent to the National Reference Laboratory on Marine Biotoxins for TTXs detection using a validated HILIC-MS/MS method on fish tissue. The presence of STXs was also screened in part of the specimens. Overall, 56 specimens identified as Sphoeroides pachygaster (Müller &Troschel, 1848) were collected. Data on their total length, body weight, fishing method and catch area (with relative depth temperature and salinity) were analyzed and compared with the S. pachygaster records reported in literature which were updated to 2022. All the analysed tissues were found to be negative for both TTXs and STXs. CS played an essential role in monitoring potentially toxic marine species in this investigation. Outcomes from this study, which is the first investigating S. pachygaster toxicity in Italian waters, may provide useful data for the proper assessment of this emerging risk.

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. Chromosomal microarray analysis detected a 452.4 Kb de novo heterozygous microdeletion in chromosomal region 1p34.3, including seven OMIM genes. The authors took a thorough evaluation of the association to the phenotype of the deleted genes. Further reports could strengthen such association.

Monuments as sampling surfaces of recent traffic pollution.

BACKGROUND, AIM AND SCOPE: A new approach towards monuments, considering them as a passive sampler of pollution, is presented. Cultural Heritage objects suffer daily the damages of environmental pollution, especially in those areas interested by heavy traffic. Since monuments undergo only periodic conservation or maintenance works, surfaces are able to accumulate atmospheric deposit and to record changes in its composition. An optimised analytical protocol was developed in order to quantify platinum and rhodium at trace level on surfaces. The two elements have become tracers of automobile emissions in recent years, since the introduction of catalytic converters, and could have catalytic effects on the decay reactions of natural and artificial stone materials. As a first case study, the cement mortar surfaces of a twentieth century monument, the Camerlata Fountain, in Como (Italy) were investigated. MATERIALS AND METHODS: The surfaces of the monument were scraped in areas both exposed to atmosphere and sheltered by the architectural elements of the building. The powders were dissolved by microwave-assisted mineralisation with a solution of HCl and HNO(3). The solution was filtered, irradiated and analysed by adsorptive cathodic stripping voltammetry. The powders were also analysed by infrared spectroscopy and X-ray diffraction in order to determine the chemical and mineralogical composition. RESULTS AND DISCUSSION: An analysis protocol was set up considering the matrix effect and the expected low concentrations of the two metals. The results enlightened variable concentration values and distribution areas of platinum (0.013-45 µg/kg) and rhodium (0.55-274.4 µg/kg), suggesting the ability of artificial stone surfaces to accumulate the two elements. The sample chemical and mineralogical composition was consistent with a typical cement plaster interested by decay phenomena. CONCLUSIONS: This work investigated the relation between Cultural Heritage and pollution by another point of view. The analytical protocol presented in this paper was effective in determining platinum and rhodium in traces on the investigated stone surfaces with negligible matrix effects. RECOMMENDATION AND PERSPECTIVES: The presence of platinum and rhodium on monument surfaces should be of significant interest when planning Cultural Heritage conservation. A better knowledge of the role of the two metals in decay phenomena could impact in a positive way artwork conservation.

The stucco decorations from St. Lorenzo in Laino (Como, Italy): The materials and the techniques employed by the "Magistri Comacini".

The paper reports a cross-cutting and systematic approach to the analytical study of Baroque stucco decorations by Italian artists known as "Magistri Comacini". Samples from the Church of St. Lorenzo in Laino (Como, Italy) were analysed using chemical and mineralogical techniques and the results interpreted with the help of art historians in order to enlighten the artistic techniques. The characterisation of the binder, aggregate and organic fractions was carried out through optical microscopy, scanning electron microscopy with microprobe, X-ray powder diffraction, Fourier transform infrared spectroscopy, gas chromatography-mass spectrometry and laser ablation mass spectrometry equipped with plasma source spectrometry. The results on major, minor and trace components ascertained various recipes. In particular, the investigation of the finishing layers corroborated hypotheses of attribution and chronology and stressed the different skills of the artists working in the building, shedding a light on details of the decoration technique.