Discovery of a New Genetic Syndrome which Predisposes the Body to Cancer

Jordi Surrallés
A new syndrome caused by biallelic mutations - those produced in both gene copies inherited from the mother and father - in the FANCM gene predisposes the body to the appearance of tumours and causes rejection to chemotherapy treatments. Contrary to what scientists believed, the gene does not cause Fanconi anaemia. Researchers recommend modifying the clinical monitoring of patients with these mutations. A research led by Jordi Surrallés, professor of the Department of Genetics and Microbiology at the Universitat Autònoma de Barcelona, director of the Genetics Unit at the Hospital de la Santa Creu i Sant Pau and lead researcher at the Centre for Biomedical Network Research on Rare Diseases (CIBERER), has identified a new genetic syndrome caused by mutations in both copies of the FANCM gene, also known as biallelic mutations. The results, published in Genetics in Medicine, the official journal of the American College of Medical Genetics and part of the Nature group, suggest that these mutations predispose the body to early formations of tumours and chemotherapy toxicity.
NEL QUARTIERE COPPEDE’ NASCE UN “FIORE” !!!!!!!!!!!!!!!!!!
Palazzo in Via Ticino Oggi

Nuovo Progetto
Si tratta di un “fiore” specie ‘palazzina’, tipo balconatissima, colore bianca candida e rossa che si posizionerà al posto di un edificio esistente dei primi del novecento, ex educandato per studentesse gestito da suore Ancelle del Divino Cuore, che sarà demolito.
Il progetto della nuova palazzine è dell’arch. Alessandro Ridolfi attuale presidente dell’Ordine degli architetti e paesaggisti di Roma e provincia . I cittadini del II Municipio dopo aver scoperto cosa accadeva dietro il tendone bianco che invade anche una parte di via Ticino, sono rimasti basiti, increduli e molto preoccupati di ciò che sta per accadere ma anche del futuro del proprio territorio. Ma come, Roma non è la citta che ha il più avanzato P.R.G. (piano regolatore generale) del mondo avendo riconosciuto un valore storico non solo alla città entro le Mura Aureliane ma anche a tutti quegli edifici e tessuti che per qualità e storia vanno tutelati?
Roma non è la citta in cui non si muove foglia che sovrintendenza non voglia? Allora ci chiediamo: come è stato possibile che tutti gli enti preposti al controllo dell’edificazione abbiano consentito ad una operazione immobiliare del genere? Tutto ciò per realizzare 7 appartamenti lussuosi, 15 posti auto e 7 cantine.
Il quartiere Coppedè non è solo Piazza Mincio, ma anche il tessuto edilizio che si dipana lungo le strade al suo intorno con edifici dei primi del novecento. Non siamo integralisti, non siamo contro una sana politica di rigenerazione urbana, ma siamo contro questo tipo di intervento privo di cultura dei luoghi e di sensibilità paesaggistica, anche la città ha i suoi paesaggi da difendere. Speriamo che qualcuno intervenga e si possa fare qualcosa.
Rainbow colors reveal cell history: Uncovering β-cell heterogeneity by tracing developmental origins

Dr. Nikolay Ninov, group leader at the DFG research center for Regenerative Therapies Dresden (CRTD), Cluster of Excellence at the TU Dresden, and Paul Langerhans Institute Dresden (PLID), and his group developed a system called “Beta-bow”, which allows the history of β-cells to be traced by genetic bar-coding and multicolor imaging. The results of this study are now published in the scientific journal Nature Communications.
Tracing the history of individual cells in the developing organism can reveal functional differences among seemingly uniform cells. This knowledge is important for defining the characteristics of highly regenerative cells in order to target them for cellular therapies, as well as to prevent the formation of unfit cells, which compromise the overall health of the organism. The study introduced here presents a new method for tracing the history of β-cells, which perform the essential function of secreting insulin in response to glucose. The authors traced β-cells with regards to their proliferation, function and time of differentiation in the zebrafish. The study shows that β-cells with different developmental histories co-exist together, which leads to the formation of dynamic sub-populations that differ in their potential for undergoing proliferation and performing functional tasks. The study also reveals the onset of β-cell function in zebrafish, which opens new avenues to investigate how β-cells acquire a functional state using this powerful genetic model.
Study links brain inflammation to suicidal thinking in depression

Patients with major depressive disorder (MDD) have increased brain levels of a marker of microglial activation, a sign of inflammation, according to a new study in Biological Psychiatry by researchers at the University of Manchester, United Kingdom. In the study, Dr. Peter Talbot and colleagues found that the increase in the inflammatory marker was present specifically in patients with MDD who were experiencing suicidal thoughts, pinning the role of inflammation to suicidality rather than a diagnosis of MDD itself. "Our findings are the first results in living depressed patients to suggest that this microglial activation is most prominent in those with suicidal thinking," said Dr. Talbot. Previous studies suggesting this link have relied on brain tissue collected from patients after death. "This paper is an important addition to the view that inflammation is a feature of the neurobiology of a subgroup of depressed patients, in this case the group with suicidal ideation," said Dr. John Krystal, Editor of Biological Psychiatry. "This observation is particularly important in light of recent evidence supporting a personalized medicine approach to depression, i.e.., that anti-inflammatory drugs may have antidepressant effects that are limited to patients with demonstrable inflammation."
How Teotihuacan’s urban design was lost and found

Name one civilization located in the Americas that pre-dates the arrival of Europeans. You probably replied with the Aztecs, the Inca or perhaps the Maya. A new paper, published in De Gruyter’s open access journal Open Archeology, by Michael E. Smith of Arizona State University shows how this view of American civilizations is narrow. It is entitled “The Teotihuacan Anomaly: The Historical Trajectory of Urban Design in Ancient Central Mexico”. Smith, using a map produced by the Teotihuacan mapping project, conducted a comparative analysis of the city with earlier and later Mesoamerican urban centers and has proved, for the first time, the uniqueness of the city. The paper outlines how the urban design of the city of Teotihuacan differed from past and subsequent cities, only to be rediscovered and partially modelled on many centuries later by the Aztecs.
Surprising discovery - how the African tsetse fly really drinks your blood
Researchers at the University of Bristol have been taking a close-up look at the biting mouthparts of the African tsetse fly as part of ongoing work on the animal diseases it carries. Using the new high-powered scanning electron microscope in the University’s Life Sciences Building, researchers from the Trypanosome Research Group were able to see the rows of sharp teeth and rasps that the fly uses to chew through the skin when it bites. The teeth tear the delicate blood capillaries in the skin, so the fly can suck up the blood. To stop the blood clotting, the fly squirts saliva containing anti-coagulant into the wound through a narrow tube inside the proboscis. To their surprise, the researchers found that the tip of this tube is decorated with intricate finger-like structures with suckers. Professor Wendy Gibson from the School of Biological Sciences, led the research which has been published this week in the journal Parasites & Vectors. She said “This was an unexpected finding – the textbooks just show a plain pointed end to the saliva tube.
Appello mondiale per tolleranza zero nei confronti delle perdite e degli sprechi di cibo
Sistemi alimentari sani contribuiranno a porre fine alla fame, ma serve maggiore cooperazione
Cambiare il modo in cui i pomodori vengono confezionati può contribuire a ridurre le perdite durante il trasporto.
New York, 20 settembre 2017 - Il Direttore Generale della FAO, José Graziano da Silva, si è unito all'appello per un rinnovato impegno globale di tolleranza zero nei confronti delle perdite e degli sprechi alimentari. L'appello è stato lanciato nel corso di un evento ad alto livello alla 72a sessione dell'Assemblea Generale delle Nazioni Unite, dedicato ad affrontare le perdite e gli sprechi alimentari come percorso obbligato per raggiungere l'Obiettivo di sviluppo sostenibile 2: Fame Zero."La tolleranza zero nei confronti delle perdite e degli sprechi di cibo ha senso anche dal punto di vista economico. È stato dimostrato che per ogni dollaro che società hanno investito per ridurre la perdite e sprechi, esse hanno risparmiato 14 dollari in costi operativi", ha dichiarato Graziano da Silva nel suo intervento. "Investire in misure per prevenire le perdite e gli sprechi di cibo significa anche investire in politiche a favore dei poveri, in quanto così si promuovono sistemi alimentari sostenibili per un mondo a fame zero", ha aggiunto. Ogni anno un terzo del cibo prodotto per il consumo umano va perduto o sprecato. Queste perdite avvengono lungo l'intera catena di approvvigionamento, dalla fattoria alla forchetta. Oltre al cibo, vi è anche uno spreco di manodopera, di acqua, di energia, di terra e di altri mezzi di produzione. Se la perdita di cibo e gli sprechi fossero un paese, esso sarebbe la terza più alta emittente nazionale di gas serra.
Cell model of the brain provides new knowledge on developmental disease

iPS-derived neural stem cells in green and neurons in red from a healthy individual (to the left) and a person with lissencephaly (to the right). The sample from the healthy person gives rise to fewer immature cells (neural stem cells). Photo: Falk Laboratory
By reprogramming skin cells into nerve cells, researchers at Karolinska Institutet are creating cell models of the human brain. In a new study published in Molecular Psychiatry the researchers describe how cells from patients with the severe developmental disease lissencephaly differ from healthy cells. The method can provide vital new knowledge on difficult-to-study congenital diseases. Lissencephaly is a rare congenital developmental disease that can be caused by, amongst other anomalies, a mutation of the DCX gene. Affected individuals are born with serious developmental disabilities and a brain that is smooth instead of folded. The discovery that it is possible to reprogramme specialised cells such as skin cells in order to reverse their development back to stem cells was rewarded with the 2012 Nobel Prize. The resulting so-called iPS-cells (induced pluripotent stem cells) can then be turned into other specialised cell types. Anna Falk, docent at Karolinska Institutet’s Department of Neuroscience, uses this technique to build cell models of the human brain. In the present study, her team took skin cells from patients with lissencephaly and turned them into iPS cells, which they then cultivated under special conditions into neuronal stem cells and neurons that are copies of those in the patients’ brains.
New treatment for osteoporosis provides better protection against fractures
A new treatment for osteoporosis provides major improvements in bone density and more effective protection against fractures than the current standard treatment. These are the findings of a study published in the New England Journal of Medicine (NEJM). The study is the first that compares the effect of two osteoporosis medicines on fractures. “With the new treatment, we could offer significantly better protection against fractures and could thereby help many patients with severe osteoporosis,” says co-author of the study Mattias Lorentzon, Professor of Geriatrics at the Institute of Medicine, Sahlgrenska Academy, and Senior Physician at Sahlgrenska University Hospital. Many patients with severe osteoporosis and a high risk of fractures often cannot regain their original bone strength. They continue to have fractures even with treatment according to current standards with alendronate in tablet form every week.
Dinosaur evolution: Lumbering giants had agile ancestors

The best known sauropod dinosaurs were huge herbivorous creatures, whose brain structures were markedly different from those of their evolutionary predecessors, for the earliest representatives of the group were small, lithe carnivores.
The sauropod group of dinosaurs included the largest animals that have ever walked the Earth – up to 40 meters long and weighing as much as 90 tons. Evolutionarily speaking, they were obviously very successful, giving rise to a diverse and widely distributed array of plant-eating species. These forms were characterized by a small head, a long and highly flexible neck that allowed them – like modern giraffes – to graze the tops of the tallest trees, and a massive body that made mature specimens invulnerable to predators. The sauropods survived for well over 100 million years before succumbing to the meteorite that snuffed out the dinosaurs at the end of the Cretaceous Era.
However, the early representatives of the lineage that led to these lumbering giants were strikingly different in form and habits. For a start, they were carnivores – like Saturnalia tupiniquim, an early sauropod dinosaur that was about the same size as a modern wolf. Recent work carried out by researchers for Ludwig-Maxilians-Universitaet (LMU) in Munich in collaboration with colleagues in Brazil now confirms this scenario and adds new details to the story. Most of the evidence for the early members of the Sauropodomorpha comes from their type of dentition. Now paleontologists Mario Bronzati and Oliver Rauhut, who are based at LMU and the Bavarian State Collection for Paleontology and Geology in Munich, have used computer tomography (CT) to analyze fossil skull bones assigned to S. tupiniquim. The high-resolution images of the cranial bones provided by this technique enabled them to deduce the overall surface morphology of the brain. The results suggest that despite being capable of consuming both meat and plants, S. tupiniquim could have followed a purely predatory lifestyle. The new findings appear in Scientific Reports, one of the online journals published by Springer Nature.
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