Focusing New Ataxia Telangiectasia Therapeutic Approaches

Ataxia Telangiectasia (AT) is a rare worldwide disease inherited as autosomal recessive with a poor prognosis in its classical form. It is characterized by neurological impairment (progressive cerebellar ataxia, axonal peripheral neuropathy, oculomotor apraxia, and movement disorders such as dystonia, choreoathetosis, myoclonus, tremor, Parkinsonism), telangiectasias, recurrent sino pulmonary infections, proneness to cancer, increased alpha-fetoprotein and decreased IgA levels and radio hypersensitivity. AT is caused by biallelic mutations in ATM gene, which plays a pivotal role in the control of cell cycle and in the response to DNA double strand break damage and chromatin changes. The management of patients, as well as prognosis, depends on the severity of the phenotype; only symptomatic therapies are by now available. Here we discuss the classical and the new therapeutic approaches in the light of the most recent reports in the literature

Crack roughness and avalanche precursors in the random fuse model

We analyze the scaling of the crack roughness and of avalanche precursors in the two dimensional random fuse model by numerical simulations, employing large system sizes and extensive sample averaging. We find that the crack roughness exhibits anomalous scaling, as recently observed in experiments. The roughness exponents ($\zeta$, $\zeta_{loc}$) and the global width distributions are found to be universal with respect to the lattice geometry. Failure is preceded by avalanche precursors whose distribution follows a power law up to a cutoff size. While the characteristic avalanche size scales as $s_0 \sim L^D$, with a universal fractal dimension $D$, the distribution exponent $\tau$ differs slightly for triangular and diamond lattices and, in both cases, it is larger than the mean-field (fiber bundle) value $\tau=5/2$

COVID-19: Considerations about immune suppression and biologicals at the time of SARS-CoV-2 pandemic

The extent of the profound immunological and nonimmunological responses linked to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is currently being investigated worldwide due to the large burden associated with death due to SARS-CoV-2 and the short-term consequences of coronavirus disease 2019 (COVID-19). It has been hypothesized that patients on immunosuppressive treatments, including biologics, may have an augmented risk of being infected by SARS-CoV-2; however, there are currently no definitive data about biological drugs and COVID-19 in immune-mediated inflammatory diseases. Current epidemiological models developed to understand how long the COVID-19 epidemic may last are not conclusive and range from sustained epidemics to complete elimination. Nevertheless, even in the best-case scenario of apparent elimination, there is concordance about a possible contagion resurgence as late as 2024. Therefore, knowledge of the impact of SARS-CoV-2 on immune-mediated diseases and among patients treated with biologicals, together with the results of novel and promising COVID-19 treatment strategies targeting the virus and the host immune response (or both), will help us to best manage our patients during this pandemic over the next few years

What do young people know about HIV? Results of a cross sectional study on 18-24-year-old students

Introduction: Increasing people's knowledge of transmission, prevention, early diagnosis, and available treatments is a key step toward HIV control; it means setting the conditions for empowerment and enabling individuals to make aware choices about the prevention strategy best suited to their needs. This study aims to identify unmet needs on HIV knowledge among freshman students. Methods: A cross sectional study was carried out at the University of Cagliari, which is an Italian public state university. Data were collected by means of an anonymous questionnaire; the final sample included 801 students. Results: Results offer a detailed picture of students' knowledge and perceptions of HIV. Several topics deserve to be better understood by students, but the main gaps relate to the pre-exposure prophylaxis and the decreased likelihood of sexually transmitting HIV due to early treatments. Students' vision of the quality of life of people living with HIV was negatively affected by perceiving as relevant the effects of HIV on physical health or on sexual/affective domains, while conversely, it seemed positively affected by knowing that current treatments are useful for counteracting physical symptoms and decreasing the possibility of transmitting HIV. Conclusion: Being aware of the potential benefits of current therapies could favour a less negative view, in line with the current state of the beneficial effects of HIV treatment. Universities are a valuable setting to bridge the HIV knowledge gap and thus also contribute to tackling stigma and actively promoting HIV testing

Precision agriculture to improve the monitoring and management of tomato insect pests

Human-based monitoring of arthropod pests of agricultural importance is usually a time-consuming and costly activity. The advent of technologies such as automatic traps opens new opportunities for remote monitoring. In this article, we present a novel Artificial Intelligence (AI)-based approach aimed to developing a smart trap for monitoring two major pests of greenhouse tomatoes, namely whiteflies, i.e., Bemisia tabaci and Trialeurodes vaporariorum (Hemiptera: Aleyrodidae), and leaf miner flies, Liriomyza spp. (Diptera: Agromyzidae)

Visible Light-Promoted Oxidative Cross-Coupling of Alcohols to Esters

Ester is one of the most significant functional groups in organic chemistry and is enclosed in several valued molecules. Usually, esters are prepared through the acid-catalyzed esterification reaction of carboxylic acids with alcohols, transesterification of esters with alcohols, or via activation of carboxylic acids followed by the addition of alcohols. However, these procedures typically imply the excess use of reactants and harsh reaction conditions. Visible light-mediated photoreactions have been disclosed to display a safe, sustainable, and accessible alternative to traditional methods, and to lead new reactivity modes in organic procedures. In this context, we propose a transition metal-based and organic-based photocatalyst-free synthesis of esters from alcohols induced by visible light. The methodology can be carried out using sunlight or artificial visible light as a solar simulator or a blue LED source

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in SETX have been described in AOA2 patients. OBJECTIVE: To describe the clinical features of AOA2 and to identify the SETX mutations in 10 patients from four Italian families. METHODS: The patients underwent clinical examination, routine laboratory tests, nerve conduction studies, sural nerve biopsy, and brain MRI. All were screened for SETX mutations. RESULTS: All the patients had cerebellar features, including limb and truncal ataxia, and slurred speech. OMA was observed in two patients, extrapyramidal symptoms in two, and mental impairment in three. High serum AFP levels, motor and sensory axonal neuropathy, and marked cerebellar atrophy on MRI were detected in all the patients who underwent these examinations. Sural nerve biopsy revealed a severe depletion of large myelinated fibers in one patient, and both large and small myelinated fibers in another. Postmortem findings are also reported in one of the patients. Four different homozygous SETX mutations were found (a large-scale deletion, a missense change, a single-base deletion, and a splice-site mutation). CONCLUSIONS: The clinical phenotype of oculomotor apraxia type 2 is fairly homogeneous, showing only subtle intrafamilial variability. OMA is an inconstant finding. The identification of new mutations expands the array of SETX variants, and the finding of a missense change outside the helicase domain suggests the existence of at least one more functional region in the N-terminus of senataxin