La fecondazione eterologa medicalmente assistita: profili costituzionali.

Il presente lavoro di tesi, ripercorre la vicenda che ha visto protagonista il divieto assoluto di donazione di gameti – la cosiddetta “fecondazione eterologa” – previsto a norma dell’articolo 4, comma terzo, della legge n. 40 del 2004, Norme in materia di procreazione medicalmente assistita, sino alla pronuncia della Corte costituzionale n. 162 del 2014 con cui il Giudice costituzionale ha sancito l’incompatibilità con i principi della Carta costituzionale. Il percorso per giungere alla liceità della fecondazione eterologa, si dipana attraverso tre capitoli, tre capitoli che si prefiggono di far rivivere a chi legge, le tre tappe fondamentali relative alla “vita” della procreazione medicalmente assistita di tipo eterologo. Attraverso un’indagine storico-giuridica, il primo capitolo si pone l’obbiettivo di mettere in luce quella che era la disciplina della PMA eterologa prima della legge n. 40 del 2004, sottolineando come, per molto tempo le tecniche sanitarie di assistenza alla fecondazione sono state praticate in Italia in assenza di una specifica disciplina legislativa. Solo nel 2004, con sensibile ritardo su diversi altri Paesi europei, la lacuna normativa viene colmata dalla legge n. 40, sull’onda di un acceso dibattito. Nei dieci anni di vigenza questa legge è stata al centro di molte vicende giudiziarie. I giudici sono stati ripetutamente chiamati a tutelare i diritti fondamentali coinvolti nella delicata materia e hanno rivelato, in numerose occasioni, i profili di illegittimità della normativa. Il presente studio è dedicato ad uno dei punti più controversi della disciplina introdotta con la legge n. 40, il divieto di donazione di materiale genetico da parte di soggetti estranei alla coppia. Il divieto investe le aspirazioni di accesso ai progressi della scienza delle coppie incapaci di produrre materiale genetico proprio da utilizzare per la riproduzione, ai quali resta la sola scelta del “turismo procreativo”. Un divieto, dunque, che potrebbe essere produttivo di una discriminazione per incapacità e per condizioni economiche. L’articolata vicenda giurisprudenziale che interessa l’articolo 4, comma terzo, della legge n. 40 trae origine dalle richieste referendarie del 2005, ma come sappiamo, il referendum non raggiunse il quorum di validità e pertanto non produsse l’effetto abrogativo. Il percorso giuridico che si è sviluppato negli anni a venire è testimone di numerose intersezioni tra il livello nazionale e sovranazionale di tutela dei diritti, che hanno caratterizzato la “storia” del divieto assoluto di donazione di gameti, attraverso riferimenti alla giurisprudenza della Corte europea dei diritti dell’uomo in materia di procreazione medicalmente assistita. È una lunga strada, quella che ci conduce al secondo capitolo, nel quale ci poniamo il fine di esaminare più da vicino la sentenza n. 162 del 2014, nella quale la Corte costituzionale sancisce in modo definitivo la contrarietà del divieto assoluto della c.d. “fecondazione eterologa” rispetto agli articoli 2, 3, 29, 31 e 32 della Costituzione, rimuovendo la norma dal nostro ordinamento. Una volta abbattuto il divieto di fecondazione eterologa, la prima questione da risolvere, nel capitolo successivo, è quella relativa alla disciplina da applicare, cercando di mediare tra coloro che ritenevano che la decisione della Corte fosse immediatamente applicabile e coloro che invece sostenevano il determinarsi di un vuoto normativo. Ma non solo, saranno esaminate anche ulteriori questioni figlie di una generazione che porta con sé anche la domanda di diritti nuovi, primo fra tutti l’accessibilità alle informazioni sulle origini

Thermographic Control of Pediatric Dental Patients During the SARS-CoV-2 Pandemics Using Smartphones

Objective: To evaluate the reliability of infrared (IR) thermal camera connected to smartphones, already used in medicine for diagnostic purposes, as an easy tool for access screening to pediatric dentistry services. Material and Methods: After the preventive telephone triage, thirty orthodontic patients (7-13 years) underwent temperature measurement in the office with two no-contact IR devices: forehead digital thermometer and thermal-camera connected to a smartphone (reference areas: forehead, inner canthi, ears). Measurements were compared and differences were statistically investigated with T student’s test (p<0.01). Results: Forehead digital thermometer temperatures were superimposable to those recorded in ear areas and inner canthi with the thermal camera connected to a smartphone. Differences were not statistically significant even in comparison between the sexes. Forehead temperature values detected with a thermal camera are lower than those detected with a digital forehead thermometer. Conclusion: Thermal camera on a smartphone could be reliable in measuring body temperature. Mobile thermographic values of ears and inner canthi areas can be used as an alternative to forehead digital thermometer measurements. Further applications in pediatric dentistry of thermography on smartphones should be examined

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers. Several genes encoding heart sarcomeric proteins have been associated to HCM, but a small proportion of HCM patients harbor alterations in other non-sarcomeric loci. The variable expression of HCM seems influenced by genetic modifier factors and new sequencing technologies are redefining the understanding of genotype–phenotype relationships, even if the interpretations of the numerous identified variants pose several challenges. Methods and results: We investigated 62 sarcomeric and non-sarcomeric genes in 41 HCM cases and in 3 HCM-related disorders patients. We employed an integrated approach that combines multiple tools for the prediction, annotation and visualization of functional variants. Genotype–phenotype correlations were carried out for inspecting the involvement of each gene in age onset and clinical variability of HCM. The 80% of the non-syndromic patients showed at least one rare non-synonymous variant (nsSNV) and among them, 58% carried alterations in sarcomeric loci, 14% in desmosomal and 7% in other non-sarcomeric ones without any sarcomere change. Statistical analyses revealed an inverse correlation between the number of nsSNVs and age at onset, and a relationship between the clinical variability and number and type of variants. Conclusions: Our results extend the mutational spectrum of HCM and contribute in defining the molecular pathogenesis and inheritance pattern(s) of this condition. Besides, we delineate a specific procedure for the identification of the most likely pathogenetic variants for a next generation sequencing approach embodied in a clinical context

Liquid biopsy in the assessment of microRNAs in oral squamous cell carcinoma : a systematic review

The identification of non-invasive biomarkers from biological fluids collected by liquid biopsy provides new horizons for individualized therapeutic strategies and improves clinical decision-making in OSCC patients. Circulating microRNAs have emerged as

Discordant biochemical parameters of acromegaly remission do not influence the prevalence or aggressiveness of metabolic comorbidities: a single-center study

Purpose: The discrepancy between the biomarkers of disease's activity in acromegalic patients (GH and IGF-1) is almost frequent representing a challenge for the development of comorbidities in the long term. The aim of this study was to evaluate the prevalence and severity of metabolic comorbidities (diabetes, hypertension, and dyslipidemia) in surgically treated acromegalic patients with disease control and discordant GH and/or IGF-1 levels compared with those with concordant values.Patients and methods: Retrospective monocentric observational study on acromegalic surgically treated patients with biochemical remission (group A) or mild discordant GH or IGF-1 levels (group B). Metabolic complications and medical therapy were assessed at diagnosis and at the last follow-up visit. Severity of the disease was set for drug titration or shift to another molecule or more than before.Results: There were 18 patients that met the inclusion criteria [group A: nine patients; group B: nine patients, follow-up 7 years (IQR 5.0;11.25)]. The prevalence of female patients was significantly higher in the remission group compared with the discordant group (p < 0.02). Considering metabolic complications, at the last follow-up, 61.1% was affected by hypertension, 33.3% by diabetes, and 61.1% by dyslipidemia, without differences between groups. Drug characteristics (dose, shift, number) during the follow-up did not differ significantly between groups.Conclusion: Metabolic complications, mainly dyslipidemia, are frequent in cured acromegalic patients, but GH/IGF-1 discrepancy does not seem to represent a risk factor for their presence or persistence. More extended studies are needed to confirm our results in a long-term period

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

AbstractGenomic technologies are redefining the understanding of genotype–phenotype relationships and over the past decade, many bioinformatics algorithms have been developed to predict functional consequences of single nucleotide variants. This article presents the data from a comprehensive computational workflow adopted to assess the biomedical impact of the DNA variants resulting from the experimental study “Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy” (Bottillo et al., 2016) [1]. Several different independently methods were employed to predict the functional consequences of alleles that result in amino acid substitutions, to study the effect of some DNA variants over the splicing process and to investigate the impact of a sequence variant with respect to the evolutionary conservation

A novel allele specific polymerase chain reaction (As-pcr) assay to detect the v1016g knockdown resistance mutation confirms its widespread presence in aedes albopictus populations from Italy

Funding Information: Funding: The study received support from the project ”Sapienza 2017” and JP received support from FCT-Fundação para a Ciência e a Tecnologia, I.P., through national funds in the framework of the project PTDC/BIA-OUT/29477/2017. Funding Information: The study received support from the project ?Sapienza 2017? and JP received support from FCT-Funda??o para a Ci?ncia e a Tecnologia, I.P., through national funds in the framework of the project PTDC/BIA-OUT/29477/2017. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.Polymerase chain reaction (PCR)-based genotyping of mutations in the voltage-sensitive sodium channel (vssc) associated with resistance to pyrethroid insecticides is widely used and represents a potential early warning and monitoring system for insecticide resistance arising in mosquito populations, which are vectors of different human pathogens. In the secondary vector Aedes albopictus—an Asian species that has invaded and colonized the whole world, including temperate regions—sequencing of domain II of the vssc gene is still needed to detect the V1016G mutation associated with pyrethroid resistance. In this study we developed and tested a novel allele-specific PCR (AS-PCR) assay to genotype the V1016G mutation in this species and applied it to the analysis of wild populations from Italy. The results confirm the high accuracy of the novel AS-PCR and highlight frequencies of the V1016G allele as >5% in most sampling sites, with peaks of 20–45% in coastal touristic sites where pyrethroid treatments are extensively implemented, mostly for mosquito nuisance reduction. The high frequency of this mutation observed in Italian Ae. albopictus populations should serve as a warning bell, advocating for increased monitoring and management of a phenomenon which risks neutralizing the only weapon today available to counteract (risks of) arbovirus outbreaks.publishersversionpublishe

Radiomics in prostate cancer: an up-to-date review

: Prostate cancer (PCa) is the most common worldwide diagnosed malignancy in male population. The diagnosis, the identification of aggressive disease, and the post-treatment follow-up needs a more comprehensive and holistic approach. Radiomics is the extraction and interpretation of images phenotypes in a quantitative manner. Radiomics may give an advantage through advancements in imaging modalities and through the potential power of artificial intelligence techniques by translating those features into clinical outcome prediction. This article gives an overview on the current evidence of methodology and reviews the available literature on radiomics in PCa patients, highlighting its potential for personalized treatment and future applications