Review of How Population Change Will Transform Our World by Sarah Harper

In this book, Sarah Harper explores the relevant topic of the shift in the age structure of the world’s population. She addresses this issue by considering the entire world population. In particular, she deeply analyses causes and consequences of the age-structural change highlighting convergences and differences between populations of various geographical areas and focusing on the connections with economic and social factors. Addressed also to a wider audience, this book sheds light about the important changes of the population age structure and about the future of the world population. The author highlights differences and interconnections existing between various populations of the world, without forgetting to stress the importance to consider changes at the individual level within the society. Sarah Harper, through this book, contributes to provide instruments and knowledge to understand the populations and societies of the world

The Perceptions of Migration During the Pandemic: What Twitter Data Tell Us?

This paper aims to analyse sentiments and emotions about migration in Italy using Twitter, by comparing the period of COVID-19 pandemic with the previous year. We take Italy as a case study because it has been severely affected by the COVID-19, it is one of the largest recipients of immigrants in Europe and, is among the few countries that implemented an amnesty for irregular migrant workers during the pandemic. We apply a text mining and sentiment analysis to the tweets with hashtags and keywords related to the migration and to the COVID-19 pandemic. Results show that tweets related to migration express a sense of emergency and also invasion. No major changes occurred in the period of the pandemic in comparison with the previous period. Indeed, both negative and positive sentiments are present in the tweets in both periods, confirming a certain polarization in the public discourse about migration

EU-border crisis on Twitter: sentiments and misinformation analysis

The objective of this paper is to investigate the information and to detect the presence of misinformation on Twitter posts circulating in relation to migration events happened in 2020 at the Greek-Turkish border and in 2021 at the Polish-Belarusian border. Data were retrieved through API by using keywords referring to the two border events. The study was carried out by applying text mining and sentiment analysis techniques on tweets and retweets related to these two events, and by conducting a qualitative analysis on specific subsets of tweets. Our results show that in both borders’ crises migration is perceived as an emergency issue, migration-related narratives mainly refer to “war”, “attacks”, “tension”, “invasion” and the emotions expressed are mostly negative. In addition, in outbreaking crisis, the identification of misinformation in social media is extremely challenging, because of the rapid circulation of rumours related to facts that are rather difficult to ascertain

La fecondità in Italia: un’analisi spaziale degli indicatori di periodo e una stima della discendenza delle coorti

L’Italia è, ormai da tempo, uno dei paesi con il più basso livello di fecondità nel contesto europeo ed in quello dei paesi a sviluppo avanzato. Questo processo di diminuzione costituisce un tema di estrema importanza; la propensione di una popolazione ad avere figli, infatti, rappresenta un forte segnale dei cambiamenti riguardanti la popolazione e la società. In questo lavoro, questo tema viene trattato utilizzando un approccio di tipo macro ed applicando metodologie specifiche per quest’ottica. L’obiettivo generale della ricerca è quello di studiare alcune macro-dimensioni dell’evoluzione della fecondità italiana e di fornire un quadro in grado di contribuire alla comprensione profonda delle sue dinamiche passate, presenti e future. In particolare sono analizzati due aspetti: l’evoluzione nel corso del tempo, nelle province italiane, della fecondità di periodo, e la dinamica futura della fecondità delle generazioni, nelle regioni italiane. La prima parte dell’analisi rileva l’esistenza di un generale processo di convergenza tra territori verso bassi livelli di fecondità, caratterizzato però anche da fasi di divergenza e dall'esistenza di pattern spaziali differenti. L’importanza delle diversità dei percorsi sperimentati dai diversi territori emerge anche quando si cerca di definire, attraverso un modello di regressione spaziale e temporale, il grado di associazione tra alcune caratteristiche demografiche, economiche e sociali con la fecondità a livello provinciale. La seconda parte dell’analisi restituisce un quadro caratterizzato da cambiamenti che stanno portando e porteranno ad un avvicinamento sempre più intenso nella discendenza finale delle generazioni, tra le diverse regioni. La fecondità finale delle generazioni degli anni Settanta, rispetto a quella delle generazioni precedenti, tenderebbe ad aumentare lievemente o a rimanere costante nelle regioni centro-settentrionali, mentre continuerebbe a diminuire in quelle meridionali; le generazioni dei primi anni Ottanta sembrerebbero destinate invece ad avere una fecondità più bassa, anche nelle regioni del Centro-Nord. Il risultato interessante, in parte atteso ma del quale qui si fornisce una misura, per quanto stimata, è il mutamento della geografia della fecondità delle generazioni. Realizzato cercando di riabilitare un approccio, quello di tipo macro, posto in secondo piano negli ultimi anni, e cercando di fornire un quadro dell’evoluzione e delle caratteristiche della fecondità nei territori italiani, questo lavoro può costituire un punto di partenza per nuove analisi sul tema, a livello sia macro che micro; può inoltre rivestire particolare utilità nella fase del disegno e dell’implementazione delle politiche e delle misure in grado di arginare o limitare le conseguenze negative sulla popolazione e sulla società del fenomeno della bassa fecondità

Was there a COVID-19 harvesting effect in Northern Italy?

We investigate the possibility of a harvesting effect, i.e. a temporary forward shift in mortality, associated with the COVID-19 pandemic by looking at the excess mortality trends of an area that registered one of the highest death tolls in the world during the first wave, Northern Italy. We do not find any evidence of a sizable COVID-19 harvesting effect, neither in the summer months after the slowdown of the first wave nor at the beginning of the second wave. According to our estimates, only a minor share of the total excess deaths detected in Northern Italian municipalities over the entire period under scrutiny (February - November 2020) can be attributed to an anticipatory role of COVID-19. A slightly higher share is detected for the most severely affected areas (the provinces of Bergamo and Brescia, in particular), but even in these territories, the harvesting effect can only account for less than 20% of excess deaths. Furthermore, the lower mortality rates observed in these areas at the beginning of the second wave may be due to several factors other than a harvesting effect, including behavioral change and some degree of temporary herd immunity. The very limited presence of short-run mortality displacement restates the case for containment policies aimed at minimizing the health impacts of the pandemic

La crescita che non c’è: spopolamento e invecchiamento nelle aree terremotate.

A seguito delle calamità naturali, il modificarsi dei centri di vita comporta cambiamenti demografici rilevanti. I territori, in genere, perdono popolazione sia a causa della dinamica naturale sia di quella migratoria. La dinamica naturale viene segnata non solo da un’improvvisa crisi di mortalità, ma anche da una diminuzione delle nascite, dovuta anche solo al rinvio della programmazione delle nascite. Inoltre il cambio dello stile di vita - connesso alla perdita delle case e/o del lavoro - spesso induce al cambiamento della dimora abituale verso centri più vitali. Questo avviene sia nel breve periodo sia nel medio anche a causa della lentezza della ricostruzione. Il terremoto de L’Aquila del 2009 ha colpito zone montane, spesso soggette già ad un processo di spopolamento e di invecchiamento. Tali fenomeni si registrano, infatti, nella gran parte del territorio italiano non urbanizzato a causa di una dinamica demografica caratterizzata da una bassissima fecondità e da un’elevata sopravvivenza che, necessariamente, comporta un fenomeno di invecchiamento della popolazione. L’obiettivo di questo lavoro è quello di analizzare l’evoluzione della popolazione nei comuni colpiti dal terremoto de L’Aquila prima e dopo l’evento sismico, mettendo in luce le eventuali discontinuità, e di considerare le caratteristiche demografiche di questi comuni. L’obiettivo è anche quello di verificare se e come l’evento sismico ne abbia enfatizzato le ‘vulnerabilità’

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

Hearing loss is the most frequent sensorineural disorder, affecting approximately 1:1000 newborns. Hereditary forms (HHL) represent 50–60% of cases, highlighting the relevance of genetic testing in deaf patients. HHL is classified as non-syndromic (NSHL—70% of cases) or syndromic (SHL—30% of cases). In this study, a multistep and integrative approach aimed at identifying the molecular cause of HHL in 102 patients, whose GJB2 analysis already showed a negative result, is described. In NSHL patients, multiplex ligation probe amplification and long-range PCR analyses of the STRC gene solved 13 cases, while whole exome sequencing (WES) identified the genetic diagnosis in 26 additional ones, with a total detection rate of 47.6%. Concerning SHL, WES detected the molecular cause in 55% of cases. Peculiar findings are represented by the identification of four subjects displaying a dual molecular diagnosis and eight affected by non-syndromic mimics, five of them presenting Usher syndrome type 2. Overall, this study provides a detailed characterisation of the genetic causes of HHL in the Italian population. Furthermore, we highlighted the frequency of Usher syndrome type 2 carriers in the Italian population to pave the way for a more effective implementation of diagnostic and follow-up strategies for this disease

BRAF and MLH1 Analysis Algorithm for the Evaluation of Lynch Syndrome Risk in Colorectal Carcinoma Patients: Evidence-Based Data from the Analysis of 100 Consecutive Cases

settingsOrder Article Reprints Open AccessFeature PaperArticle BRAF and MLH1 Analysis Algorithm for the Evaluation of Lynch Syndrome Risk in Colorectal Carcinoma Patients: Evidence-Based Data from the Analysis of 100 Consecutive Cases by Thais Maloberti 1,2,†ORCID,Antonio De Leo 1,2,†ORCID,Viviana Sanza 2,Lidia Merlo 2,Michela Visani 1ORCID,Giorgia Acquaviva 1,Sara Coluccelli 1,2ORCID,Annalisa Altimari 2,3,Elisa Gruppioni 2,3,Stefano Zagnoni 2,3,Daniela Turchetti 4,Sara Miccoli 4,Michelangelo Fiorentino 5,6ORCID,Antonietta D’Errico 3ORCID,Dario de Biase 7,*,‡ORCID andGiovanni Tallini 1,2,‡ORCID 1 Department of Experimental, Diagnostic and Specialty Medicine, Anatomic Pathology Unit-University of Bologna Medical Center, 40138 Bologna, Italy 2 Solid Tumor Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy 3 Department of Pathology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy 4 Unit of Medical Genetics, IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy 5 Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, 40138 Bologna, Italy 6 Pathology Department, Maggiore Hospital, 40133 Bologna, Italy 7 Department of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy * Author to whom correspondence should be addressed. † These authors contributed equally to this work. ‡ These authors contributed equally to this work. J. Mol. Pathol. 2022, 3(3), 115-124; https://doi.org/10.3390/jmp3030011 Received: 30 March 2022 / Revised: 27 May 2022 / Accepted: 21 June 2022 / Published: 25 June 2022 (This article belongs to the Collection Feature Papers in Journal of Molecular Pathology) Download Browse Figures Versions Notes Abstract Several causes may lead to CRC, either extrinsic (sporadic forms) or genetic (hereditary forms), such as Lynch syndrome (LS). Most sporadic deficient mismatch repair (dMMR) CRC cases are characterized by the methylation of the MLH1 promoter gene and/or BRAF gene mutations. Usually, the first test performed is the mismatch repair deficiency analysis. If a tumor shows a dMMR, BRAF mutations and then the MLH1 promoter methylation status have to be assessed, according to the ACG/ASCO screening algorithm. In this study, 100 consecutive formalin-fixed and paraffin-embedded samples of dMMR CRC were analyzed for both BRAF mutations and MLH1 promoter methylation. A total of 47 (47%) samples were BRAF p.V600E mutated, while MLH1 promoter methylation was found in 77 cases (77.0%). The pipeline “BRAF-followed-by-MLH1-analysis” led to a total of 153 tests, while the sequence “MLH1-followed-by-BRAF-analysis” resulted in a total of 123 tests. This study highlights the importance of performing MLH1 analysis in LS screening of BRAF-WT specimens before addressing patients to genetic counseling. We show that MLH1 analysis performs better as a first-line test in the screening of patients with LS risk than first-line BRAF analysis. Our data indicate that analyzing MLH1 methylation as a first-line test is more cost-effective

Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate Cancer

: Despite significant therapeutic advances, metastatic CRPC (mCRPC) remains a lethal disease. Mutations in homologous recombination repair (HRR) genes are frequent in mCRPC, and tumors harboring these mutations are known to be sensitive to PARP inhibitors. The aim of this study was to verify the technical effectiveness of this panel in the analysis of mCRPC, the frequency and type of mutations in the BRCA1/BRCA2 genes, as well as in the homologous recombination repair (HRR) genes. A total of 50 mCRPC cases were analyzed using a multi-gene next-generation sequencing panel evaluating a total of 1360 amplicons in 24 HRR genes. Of the 50 cases, 23 specimens (46.0%) had an mCRPC harboring a pathogenic variant or a variant of uncertain significance (VUS), whereas in 27 mCRPCs (54.0%), no mutations were detected (wild-type tumors). BRCA2 was the most commonly mutated gene (14.0% of samples), followed by ATM (12.0%), and BRCA1 (6.0%). In conclusion, we have set up an NGS multi-gene panel that is capable of analyzing BRCA1/BRCA2 and HRR alterations in mCRPC. Moreover, our clinical algorithm is currently being used in clinical practice for the management of patients with mCRPC

Characterization of BRCA Deficiency in Ovarian Cancer

BRCA testing is recommended in all Ovarian Cancer (OC) patients, but the optimal approach is debated. The landscape of BRCA alterations was explored in 30 consecutive OC patients: 6 (20.0%) carried germline pathogenic variants, 1 (3.3%) a somatic mutation of BRCA2, 2 (6.7%) unclassified germline variants in BRCA1, and 5 (16.7%) hypermethylation of the BRCA1 promoter. Overall, 12 patients (40.0%) showed BRCA deficit (BD), due to inactivation of both alleles of either BRCA1 or BRCA2, while 18 (60.0%) had undetected/unclear BRCA deficit (BU). Regarding sequence changes, analysis performed on Formalin-Fixed-Paraffin-Embedded tissue through a validated diagnostic protocol showed 100% accuracy, compared with 96.3% for Snap-Frozen tissue and 77.8% for the pre-diagnostic Formalin-Fixed-Paraffin-Embedded protocol. BD tumors, compared to BU, showed a significantly higher rate of small genomic rearrangements. After a median follow-up of 60.3 months, the mean PFS was 54.9 ± 27.2 months in BD patients and 34.6 ± 26.7 months in BU patients (p = 0.055). The analysis of other cancer genes in BU patients identified a carrier of a pathogenic germline variant in RAD51C. Thus, BRCA sequencing alone may miss tumors potentially responsive to specific treatments (due to BRCA1 promoter methylation or mutations in other genes) while unvalidated FFPE approaches may yield false-positive results