Bilateral cavo-ilio-femoral thrombosis in an adolescent with transient anti-phospholipid antibodies and Factor V heterozygous mutation: a case report

We report a case of bilateral cavo-ilio-femoral thrombosis in an adolescent with factor V heterozygous mutation and transient antiphospholipid antibodies secondary Varicella infection

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

The 15q11-q13 region is characterized by high instability, caused by the presence of several paralogous segmental duplications. Although most mechanisms dealing with cryptic deletions and amplifications have been at least partly characterized, little is known about the rare translocations involving this region. We characterized at the molecular level five unbalanced translocations, including a jumping one, having most of 15q transposed to the end of another chromosome, whereas the der(15)(pter->q11-q13) was missing. Imbalances were associated either with Prader-Willi or Angelman syndrome. Array-CGH demonstrated the absence of any copy number changes in the recipient chromosome in three cases, while one carried a cryptic terminal deletion and another a large terminal deletion, already diagnosed by classical cytogenetics. We cloned the breakpoint junctions in two cases, whereas cloning was impaired by complex regional genomic architecture and mosaicism in the others. Our results strongly indicate that some of our translocations originated through a prezygotic/postzygotic two-hit mechanism starting with the formation of an acentric 15qter->q1::q1->qter representing the reciprocal product of the inv dup(15) supernumerary marker chromosome. An embryo with such an acentric chromosome plus a normal chromosome 15 inherited from the other parent could survive only if partial trisomy 15 rescue would occur through elimination of part of the acentric chromosome, stabilization of the remaining portion with telomere capture, and formation of a derivative chromosome. All these events likely do not happen concurrently in a single cell but are rather the result of successive stabilization attempts occurring in different cells of which only the fittest will finally survive. Accordingly, jumping translocations might represent successful rescue attempts in different cells rather than transfer of the same 15q portion to different chromosomes. We also hypothesize that neocentromerization of the original acentric chromosome during early embryogenesis may be required to avoid its loss before cell survival is finally assured

What do we know about ESG and risk? A systematic and bibliometric review

Environmental, Social and Governance (ESG) issues have become particularly relevant in the agendas of policymakers, investment decisions by companies and asset allocation process of investors. However, the transition to a greener and more sustainable economic system is not without risks. The literature has investigated the relationship between ESG and risk in different ways, through multiple perspectives and approaches. We select all documents with “ESG” and “Risk” in the title, abstracts and keywords available in Scopus and, after removing non-relevant papers, we are left with a sample of 589 documents published in the period 1983–2022. To provide a view of the most important studies, we also focus on the most cited documents to discuss the methodological approaches and main results. The results show that over time, ESG has gained increasing attention from the literature, but researchers work in isolation and there is no single approach or leading core topic driving academic productivity; a clear taxonomy of ESG risks appears to be missing. To the best of our knowledge, this paper is the first to discuss research on ESG and risk from a financial perspective. The results highlight some existing gaps in the literature that can provide a hint for the development of the topic by researchers. These include a clearer taxonomy of ESG risks that can affect investors' and companies' decisions, a greater effort to evaluate how ESG risks distribute and spill from one sector to another and the inclusion of emerging economies and small and medium-sized enterprises in the samples

L\u2019attivit\ue0 museale ai tempi del Virus SARS-CoV-2: strategie digitali per i musei

I musei, durante il lockdown, hanno dovuto utilizzare nuovi strumenti e tecniche per promuovere l\u2019arte, trasformando cos\uec il digitale nel \u201cnew normal del beneficio culturale\u201d. Il crescente utilizzo delle mostre online e l\u2019apertura di piattaforme sui social network, gi\ue0 presenti nel panorama prima della pandemia ma in modo molto ridotto, ha permesso agli interessati di prendere parte ad eventi interattivi e personalizzati. L\u2019impegno dei musei, quindi, \ue8 stato quello di attivare e promuovere sempre di pi\uf9 la loro attivit\ue0 sui social network e siti web in modo tale che anche le persone che si trovano dall\u2019altra parte del mondo possano lo stesso fruire delle proposte museali italiane. Attraverso una analisi di dati primari e secondari viene investigata la partecipazione e la tipologia dei visitatori ante e post Virus Covid-19. Un approfondimento, riguardante il periodo di chiusura, focalizzer\ue0 l\u2019attenzione su tutte le attivit\ue0 svolte dai musei rispetto la loro virtuale apertura al pubblico con percorsi personalizzati e interattivi per la visione di mostre. Un sondaggio, condotto su un campione di 731 individui, \ue8 volto ad indagare se l\u2019infrastruttura digitale creata nell\u2019era della pandemia, potr\ue0 essere funzionale anche in futuro e potr\ue0 essere una nuova forma capace di diffondere arte e cultura

Prader-Willi Syndrome: Clinical Aspects

Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy

Molecular cloning of the 5;15 translocation in case 1.

<p>A, magnified view of the chromosome 5 breakpoint boundary detected by array-CGH using a 244 K oligonucleotide-based whole-genome microarray. The shaded area indicates a loss in DNA copy number (deletion) detected by three oligonucleotide probes (green dots). Black dots represent probes with no changes in copy number (non-deleted region). B, whole chromosome view (left) and magnified view (right) of the chromosome 15 breakpoint boundaries detected by custom oligonucleotide-based 15q11-q13 microarray. The shaded areas indicate a deletion (majority of green dots) and a gain in DNA copy number (duplication) detected by red dots (see arrow). The area containing few widely spaced probes represents BP3, a large region containing paralogous sequences. The last deleted oligomer is at 26,210,153 bp within <i>HERC2</i>, corresponding to BP3; the duplicated region is between 26,996,914 (first duplicated) and 27,106,557 bp (last duplicated) with first normal oligomer at 27,108,882 bp just distal to BP3, within the <i>APBA2</i> gene. An arrowhead points to the two black spots possibly indicating a single copy region between the deletion and the duplication. C, schematic representation of the rearrangement showing the two chromosomes involved, the position and orientation of the duplicated region, and the location of the two junctions (arrows). D, DNA sequences spanning the chromosome 5 deletion/15 duplication junction (Jc1) aligned with the reference sequences. E, dot-plot diagram, made with PipMaker software <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-Schwartz1" target="_blank">[45]</a>, showing the relative location of the inverted chromosome 15 duplication boundaries (Jc1 and Jc2, arrows) and of the <i>GOLGA8E</i>-associated inverted low copy repeat. The duplicated portion is represented by an orange arrow box.</p

Physical map of the 15q11.2-q14 region.

<p>The six segmental duplication sites responsible for specific recurrent rearrangements in this region, known as BP1-6, are represented by black boxes. All genes in the region are shown. The position of the chromosome 15 breakpoints of the five translocation cases we have examined are represented by thin arrows. The positions of the eight translocation cases (MR1-8) described by Mignon-Ravix <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-MignonRavix1" target="_blank">[10]</a> are indicated by thick arrows.</p

Phenotype, karyotype and molecular characterization of the five cases with unbalanced translocations.

*<p>The minor cell line has been confirmed, by classical cytogenetics, in fibroblasts, with a similar mosaicism percentage (45, XX, der(15;18)(q13;q23)[83]-15/45, X, der (X;15)(q28;q13),-15<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-Carrozzo1" target="_blank">[3]</a>*).</p

Effects of pre‐operative isolation on postoperative pulmonary complications after elective surgery: an international prospective cohort study

We aimed to determine the impact of pre-operative isolation on postoperative pulmonary complications after elective surgery during the global SARS-CoV-2 pandemic. We performed an international prospective cohort study including patients undergoing elective surgery in October 2020. Isolation was defined as the period before surgery during which patients did not leave their house or receive visitors from outside their household. The primary outcome was postoperative pulmonary complications, adjusted in multivariable models for measured confounders. Pre-defined sub-group analyses were performed for the primary outcome. A total of 96,454 patients from 114 countries were included and overall, 26,948 (27.9%) patients isolated before surgery. Postoperative pulmonary complications were recorded in 1947 (2.0%) patients of which 227 (11.7%) were associated with SARS-CoV-2 infection. Patients who isolated pre-operatively were older, had more respiratory comorbidities and were more commonly from areas of high SARS-CoV-2 incidence and high-income countries. Although the overall rates of postoperative pulmonary complications were similar in those that isolated and those that did not (2.1% vs 2.0%, respectively), isolation was associated with higher rates of postoperative pulmonary complications after adjustment (adjusted OR 1.20, 95%CI 1.05-1.36, p = 0.005). Sensitivity analyses revealed no further differences when patients were categorised by: pre-operative testing; use of COVID-19-free pathways; or community SARS-CoV-2 prevalence. The rate of postoperative pulmonary complications increased with periods of isolation longer than 3 days, with an OR (95%CI) at 4-7 days or &gt;= 8 days of 1.25 (1.04-1.48), p = 0.015 and 1.31 (1.11-1.55), p = 0.001, respectively. Isolation before elective surgery might be associated with a small but clinically important increased risk of postoperative pulmonary complications. Longer periods of isolation showed no reduction in the risk of postoperative pulmonary complications. These findings have significant implications for global provision of elective surgical care