Uno studio europeo coordinato dall’Istituto di biofisica del Cnr di Trento, con la partecipazione delle Università di Trento, Edimburgo e Utrecht, l’Istituto Sloveno di Chimica e Immagina Biotechnology, ha individuato un meccanismo che “blocca” il normale processo di formazione delle proteine in individui affetti da SMA. Il risultato, pubblicato su Nature Cell Biology, rappresenta un punto di svolta nello sviluppo di terapie di nuova generazione

Nuovi orizzonti nella comprensione dell’atrofia muscolare spinale (SMA), devastante malattia genetica che colpisce un neonato ogni 6.000-10.000 nati, ad oggi la principale causa di mortalità infantile associata ad una malattia genetica. La SMA è causata dalla perdita o dalla mutazione del gene Smn1, che riduce i livelli di una proteina nota come Survival Motor Neuron (SMN) e provoca, fin dai primi mesi di vita, difetti nei motoneuroni e debolezza muscolare.

È successo al Policlinico di Milano il 23 settembre: una corsa contro il tempo con tamponi rapidi anti-Covid, un paziente che arrivava da fuori Regione e sale operatorie da sincronizzare

I trapianti sono sempre interventi straordinari, capaci di cambiare radicalmente la qualità di vita di una persona. Ma non sono tutti uguali: ci sono quelli che si possono programmare e quindi si organizzano per tempo; e quelli che arrivano all'improvviso, e vanno gestiti con grandi capacità organizzative. Al Policlinico di Milano lo scorso 23 settembre è successo tutto questo in contemporanea: un trapianto di rene da donatore vivente (il marito che dona alla moglie in dialisi) e due trapianti più urgenti e soprattutto 'rari': per questo si è dovuta organizzare una 'maratona chirurgica' durata quasi 16 ore, durante cui si sono sovrapposti ben 4 interventi in sala operatoria.

Ordinary smartphone cameras are capable of accurately determining the hydration severity of dengue patients to determine care and management by analysing the colour of their urine samples, says a new study.

Lucy Lum, an author of the study and professor of paediatrics at the University of Malaya, says that maintaining the right fluid balance is a major issue in dengue cases and it would be helpful if patients can just send pictures of their urine samples for diagnosis.

Annually, the world sees some 400 million dengue infections, of which a small proportion develops severe symptoms on day four or five of illness. Suspected dengue cases are followed up for daily assessment with the passage of dark-coloured urine regarded as an indicator of dehydration.

In the study, published this month in PLOS Neglected Tropical Diseases, images of urine samples from 97 patients aged 13—60 years, taken with a standard mobile phone but in a customised booth to eliminate ambient light and other factors, were processed using Adobe Photoshop to index urine colour into the red, green, and blue (RGB) colour bands. The RGB values were found to correlate with patients’ clinical and laboratory hydration indices.

Both nasopharyngeal swab (NPS) and saliva testing showed high sensitivity and specificity to the SARS-CoV-2 (Isao Yokota et al., Clinical Infectious Diseases, September 25, 2020).

Testing self-collected saliva samples could offer an easy and effective mass testing approach for detecting asymptomatic COVID-19.

Scientists at Hokkaido University and colleagues in Japan have demonstrated a quick and effective mass testing approach using saliva samples to detect individuals who have been infected with COVID-19 but are still not showing symptoms. Their findings were published in the journal Clinical Infectious Diseases.

“Rapid detection of asymptomatic infected individuals will be critical for preventing COVID-19 outbreaks within communities and hospitals,” says Hokkaido University researcher Takanori Teshima, who led the study. Many of the world’s governments are showing reluctance to re-institute full national lockdowns as second waves of COVID-19 infections loom on the horizon. Testing and tracing systems will need to be ramped up in order to detect and isolate people who have the virus as early as possible.

Teshima and colleagues tested and compared the nasopharyngeal swabs and saliva samples of almost 2,000 people in Japan who did not have COVID-19 symptoms. Two different virus amplification tests were performed on most of the samples: the PCR test, which is now well-known and widely available around the world, and the less commonly used but faster and more portable RT-LAMP test.

Women receiving fertility-sparing surgery for treatment of borderline ovarian tumours were able to have children, a study from Karolinska Institutet in Sweden published in Fertility & Sterility shows. Natural fertility was preserved in most of them and only a small proportion required assisted reproductive treatment such as in vitro fertilization. Survival in the group was also as high as in women who had undergone radical surgical for treatment of similar tumours.

“The ability to become pregnant seems to be preserved with fertility-sparing surgery, a knowledge that is absolutely critical for the advice and treatment given to young women with ovarian borderline tumours,” says the study’s first author Gry Johansen, doctoral student at the Department of Oncology-Pathology, Karolinska Institutet.

Earlier studies of fertility-sparing surgery (FSS) for borderline ovarian tumours (BOT) have primarily focused on the oncological therapeutic outcome, and knowledge about pregnancy and childbirth after FSS has been scant. In this study, researchers at Karolinska Institutet have also examined the effects of FSS on fertility in women of a fertile age treated for early-stage BOT.

Radical or fertility-sparing surgery

Every year, some 700 women in Sweden develop ovarian cancer. Up to 20 percent of ovarian tumours are BOTs, and of these a third are diagnosed in young women of fertile age. FSS – which preserves the uterus and at least parts of the ovaries – is the most common option for women wishing to preserve fertility.

The relapse risk after FSS is larger than after radical cancer treatment, in which the uterus and both ovaries are removed, but the advantages make it an accepted course of action for young women.

Data from several registries

The study is based on data from Sweden’s healthcare registers. The selection included all women between the ages of 18 and 40 who received FSS for early-stage BOT between 2008 and 2015, according to the Swedish Quality Registry for Gynaecologic Cancer (SQRGC). The control group were peers with similar tumours treated with radical surgery.

The women who had given birth after FSS were identified using the National Board of Health and Welfare’s Medical Birth Register and the National Quality Registry for Assisted Reproduction (Q-IVF).
In Sweden, assisted reproduction (IVF) is offered by the public health services and is free of charge for women under 40.

No difference in survival

Of the 213 women who underwent FSS between 2008 and 2015 in Sweden, 23 percent had given birth to 62 babies after treatment. A minority – 20 women or 9 percent of the cohort – had undergone IVF. The women who had given birth after FSS were followed for 76 months, while the women who had not given birth were followed for 58 months.

The survival rate for the entire cohort of 277 women was an excellent 99 percent, and there was no difference between those who had received FSS and those who had undergone radical surgical cancer treatment.

“In the choice of treatment for borderline ovarian tumours, safety and the effectiveness for future childbearing must be taken into account,” says the study’s last author Kenny Rodriguez-Wallberg, researcher at the Department of Oncology-Pathology, Karolinska Institutet.

The study was supported by grants from the Swedish Cancer Society, the Cancer Research Funds of Radiumhemmet, Region Stockholm and Karolinska Institutet. There are no declared conflicts of interest.

https://www.fertstert.org/article/S0015-0282(20)30696-8/fulltext

Spines with astrocyte GLT1.jpg: Single fragment of a neuron in green and the astrocyte processes mentioned in the communication in yellow. (c) Michel Herde

Study by the University of Bonn: The signal transmission in the brain is more or less exclusive depending on the situation.

How many "listeners" a nerve cell has in the brain is strictly regulated.
This is shown by an international study led by the University College London and the universities of Bonn, Bordeaux and Milton Keynes (England). In the environment of learning neurons, certain processes are set in motion that make signal transmission less exclusive. The results have now been published in the journal Neuron.

If you want to share a secret with a friend in a busy environment, you may try to find a quiet spot, close the doors and shield the conversation from possible eavesdroppers. Nerve cells in the brain also communicate with each other behind closed doors. But the extent of this protection could be strictly regulated depending on the situation. The findings now presented by the international research team point in this direction.

The information transfer between neurons is mostly done chemically: In response to an electrical signal, the "transmitting cell" releases a so-called neurotransmitter at a synapse; this may often be glutamate molecules. These migrate through the synaptic cleft to the recipient cell.
There, they dock to certain receptors and generate an electrical reaction in the receiving neuron.

World Dream Day 25 settembre Sogni e realtà – Piero Barbanti: “I sogni pescano nella quotidianità, sono considerati anche uno strumento per riviverla e superare paure”

Metti in moto i tuoi sogni e fa che diventino realtà: è questo il leitmotiv della Giornata Mondiale dei Sogni, celebrata ogni anno il 25 settembre. Per il 2020 l’esortazione è a sognare per un nuovo mondo: “New dreams for a new world", ma qual è il significato di questi viaggi notturni che la nostra mente compie indisturbata? “Freud sosteneva che il sogno derivasse da desideri repressi o traumi rimossi. La visione attuale - spiega il Professor Piero Barbanti, docente di Neurologia presso l’Università Telematica San Raffaele e Direttore dell’Unità per la Cura e la Ricerca su Cefalee e Dolore dell’IRCCS San Raffaele di Roma - è che il sogno rappresenti piuttosto uno strumento: per rivivere situazioni emozionali importanti ed ingombranti del passato allo scopo di gestirle meglio e da ciò deriverebbero i sogni ricorrenti, quasi come tentativo di “annacquarle” progressivamente; per liberarsi da una situazione emotiva causa di paure alla quale – per “realpolitik” - non abbiamo permesso di esprimersi nella vita quotidiana pur avendola intravista di sfuggita”.

In uscita in data odierna il terzo libro di divulgazione scientifica di Walter Grassi. 

The white, fluffy layer that covers Camembert is made of a mould resulting from human selection, similar to the way dogs were domesticated from wolves. A collaboration involving French scientists from the CNRS1 has shown, through genomic analyses and laboratory experiments, that the mould Penicillium camemberti is the result of a domestication process that took place in several stages. According to their work, a first domestication event resulted in the blue–green mould P. biforme, which is used, for example, for making fresh goat's cheese. A second, more recent domestication event resulted in the white and fluffy P. camemberti.

Both domesticated species show advantageous characteristics for maturing cheese compared to the wild, closely related species: they are whiter and grow faster in cheese-ripening cellar conditions. In addition, they do not produce, or only in very small quantities, a toxin that is potentially dangerous to humans; they also prevent the proliferation of undesirable moulds. This research, published on 24th September in Current Biology, may have an impact on cheese production, by steering the selection of moulds according to the desired characteristics.

1- The study involved scientists from the Ecology, Systematics and Evolution laboratory (CNRS/Université Paris-Saclay/AgroParisTech) and the Biodiversity and Microbial Ecology laboratory (Université de Brest, Plouzané).

https://www.cnrs.fr/en/penicillium-camemberti-history-domestication-cheese

Human skulls found in Cueva de la Dehesilla

Experts from the Department of Prehistory and Archaeology of the University of Seville have just published a study in the prestigious journal Plos One on an important archaeological find in the Cueva de la Dehesilla (Cádiz). Specifically, two human skulls and a juvenile goat were discovered along with various archaeological structures and materials from a funerary ritual from the Middle Neolithic period (4800-4000 BC) hitherto unknown in the Iberian Peninsula.

"This finding opens new lines of research and anthropological scenarios, where human and animal sacrifice may have been related to ancestral cults, propitiatory rituals and divine prayers in commemorative festivities," explains US researcher Daniel García Rivero.

The archaeological site located in the Cueva de la Dehesilla consists of two adult human skulls, one male one female, the former being older. The female skull shows a depression in the frontal bone, which probably comes from an incomplete trepanation, as well as cuts in the occipital bone produced by decapitation. In addition, a wall was found separating the human skulls and the skeleton of the goat, on the one hand, from a stone altar with a stele and a hearth, on the other. Finally, several uniquely decorated ceramic vessels, some lithic objects and charred plant remains were discovered in the so-called Locus 2.