Proteinuria in focal segmental glomerulosclerosis: role of circulating factors and therapeutic approach.

The clinical course of primary Focal Segmental Glomerulosclerosis (FSGS) is frequently complicated by nephrotic range proteinuria and progression to renal failure. The high recurrence rate of the disease in transplanted kidney suggests the hypothesis that such patients have a circulating factor that alters glomerular capillary permeability. In recent years some authors found that serum from patients with FSGS increases glomerular permeability to albumin and partially identified the permeability factor (PF) as a protein of 30-50 Kd m.w. The removal of this protein by means of Plasma Exchange (PE) or plasma Immunoadsorption by Protein A (IA) decreased proteinuria. In this report we provide preliminary data about the prevalence of PF and the therapeutic effect of its removal by IA, in 3 pts with recurrence in the transplanted kidney, and 4 with FSGS of the native kidneys. They were resistant to corticosteroids (CS) and immunosuppressive (IS) therapy. 10 IA sessions were performed in 4 weeks: if a remission was achieved IA was gradually tapered. The level of PF in the serum was measured by an in vitro assay to determine the glomerular permeability to albumin. The FSGS was histologically proven in all cases and the degree of evolution was evaluated. PF levels, serum creatinine, daily proteinuria and serum albumin were monitored. The 3 patients with recurrent FSGS had a normalization of the PF levels; 2 had a clinical remission. In FSGS of native kidneys PF was elevated in 3/4 cases; 1 had a clinical remission; 2 with extensive sclerohyalinosis and 1 without PF levels did not improve. Our results confirm that most patients with FSGS have high PF serum levels and suggest that its removal can be beneficial

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

A first update on mapping the human genetic architecture of COVID-19

peer reviewe

Per una rilettura attualizzata della LIEN

La ricorrenza del centenario della LIEN e dei Trenta Punti presentati da Ferrière al Convegno di Calais nel 1921, rilanciata dalla SIRD quale occasione per sostare sull’attualità e sulle modalità realizzative dell’educazione attiva, richiama la ricerca pedagogico-didattica a riflettere sui propri presupposti e direzioni di senso. Possiamo riconoscere quale snodo di base, l’idea che, affinché il processo educativo e di apprendimento sia tale, il soggetto debba giocarvi un ruolo attivo, che gli consenta di vivere da protagonista la propria crescita personale, in relazione a quella collettiva. In questa prospettiva, compito essenziale di un’‘educazione nuova’, o rinnovata e di qualità, e di una ricerca che si interpreti come suo alimento, è quello di individuare strade per condurre le persone a vivere esperienze tali da porle in condizione di riconoscere ed incrementare le risorse soggettive ed oggettive necessarie a rispondere, in chiave sempre più proattiva, critica e consapevole, ai cambiamenti che coinvolgono il vivere. In tale cornice, introducendo i contributi della prima sessione del Convegno SIRD “Quale scuola per i cittadini del mondo. A cento anni dalla fondazione della Ligue Internationale de l’Éducation Nouvelle”, s’intende proporre alcuni elementi di riflessione volti a leggere – o rileggere ancora una volta – il contributo offerto dal movimento delle Scuole Nuove alla luce del momento presente, con l’idea che, come ricercatori ed educatori, non si possa prescindere da un agire storicamente e socialmente contestualizzato, qualora tale agire voglia porsi come momento di significato pedagogicamente rilevante. È in tale direzione che, di seguito, dopo una sintetica ma indispensabile pars denstruens – elemento di sgombero dal campo, di interpretazioni troppo ingenue o superficiali – suggeriamo alcune delle sfide oggi necessarie per procedere ad una attualizzazione dei temi caratterizzanti la LIEN. Si tratta di temi che sono variamente e più o meno direttamente intercettati dalle relazioni proposte in questa sessione di lavoro (introdotti analiticamente più avanti), e che proponiamo, in chiave idealmente interlocutoria, allo scopo di alimentare il dibattito

Ascoltare gli studenti per formare gli insegnanti?

The article discusses the importance of listening to students in the design and implementation of edu- cational reforms. The Student Voice perspective advocates for the inclusion of students as legitimate and neces- sary co-participants in the processes of educational change and reform. However, not all students have equal opportunities to express their opinions, and some are not taken into consideration fully. The article suggests that the practice of shared reading aloud can be a method for promoting listening and participation among students and teachers. By creating an environment of active listening shared reading aloud allows for the negotiation of complex meanings and the construction of unique relationships within the group. By treating students as active and valuable participants in the learning process, shared reading aloud can foster a sense of engagement among students, encouraging them to take an active role in their own education. Additionally, the article highlights the need for teacher training on listening skills and equitable practices

HLA-DRB1 and -DQB1 loci in three west African ethnic groups: genetic relationship with sub-Saharan African and European populations

The Fulani of west Africa have been shown to be less susceptible to malaria and to mount a stronger immune response to malaria than sympatric ethnic groups. The analysis of HLA diversity is useful for the assessment of the genetic distance between the Fulani and sympatric populations, which represents the necessary theoretical background for the investigation of genetic determinants of susceptibility to malaria. We assessed the polymorphism of HLA-DRB1 and -DQB1 loci and analyzed the distribution of alleles/haplotypes in Fulani, Mossi, and Rimaibé from Burkina Faso. We then investigated the genetic relationship of these three ethnic groups with other sub-Saharan African populations as well as with Europeans. We confirmed that the Fulani from Burkina Faso are genetically distinct from sympatric Mossi and Rimaibé. Furthermore the Fulani from Burkina Faso are close to those from The Gambia and, intriguingly, share the distribution of specific alleles with east African populations (Amhara and Oromo). It is noteworthy that the HLA-DRB1*04 and -DQB1*02 alleles, which are implicated in the development of several autoimmune diseases, are present at high frequency in the Fulani, suggesting their potential involvement in the enhanced immune reactivity observed in this population