A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.

Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism. In Expanded Newborn Screening (NBS), increased levels of propionylcarnitine (C3) and/or of its ratios by MS/MS analysis of dried blood spots (DBS) samples are suggestive for either Propionic Acidemia or MMAs. C3 elevation is not considered a specific marker for these disorders, resulting in high false-positive rates.

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.

Introduction: Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed.

Case Report: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy.

High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.

Rett syndrome is a progressive neurodevelopmental disorder which affects almost exclusively girls, caused by variants in MECP2 gene. Effective therapies for this devastating disorder are not yet available and the need for tight regulation of MECP2 expression for brain to properly function makes gene replacement therapy risky. For this reason, gene editing with CRISPR/Cas9 technology appears as a preferable option for the development of new therapies.

Kinetics of DNA Adducts and Abasic Site Formation in Tissues of Mice Treated with a Nitrogen Mustard.

Nitrogen mustards (NM) are an important class of chemotherapeutic drugs used in the treatment of malignant tumors. The accepted mechanism of action of NM is through the alkylation of DNA bases. NM-adducts block DNA replication in cancer cells by forming cytotoxic DNA interstrand cross-links.

Endoscopic fasciotomy for chronic exertional compartment syndrome of the forearm: Clinical results of a new technique using an endoscopic carpal tunnel release device.

Exertional compartment syndrome of the forearm is a rare pathology, occurring almost exclusively in motorcycle racers. The results of endoscopic techniques are similar to those of open fasciotomies, but they are less invasive and leave smaller scars. The aim of our study was to present a new endoscopic technique for superficial fasciotomy using the Agee® system and to describe the results.

How do Twitter users react to TV broadcasts dedicated to vaccines in Italy?

Background: Social media monitoring during TV broadcasts dedicated to vaccines can provide information on vaccine confidence. We analyzed the sentiment of tweets published in reaction to two TV broadcasts in Italy dedicated to vaccines, one based on scientific evidence [Presadiretta (PD)] and one including anti-vaccine personalities [Virus (VS)].

Methods: Tweets about vaccines published in an 8-day period centred on each of the two TV broadcasts were classified by sentiment.

Environmentally Friendly Eutectogels Comprising l-amino Acids and Deep Eutectic Solvents: Efficient Materials for Wastewater Treatment.

Current concerns for sustainability and the environment make low-impact materials desirable for environmental remediation and, in particular wastewater treatment. We obtained supramolecular gels of l-amino acids in the deep eutectic solvent formed by choline chloride and phenylacetic acid. After gel characterization, and investigating gel-sol transition temperatures, gelation kinetics, rheological properties, and morphology, the gels were applied as sorbents to remove cationic dyes from aqueous solutions.

Failure modes and effects analysis for testicular sperm extraction management process.

Failure modes and effects analysis (FMEA) is a proactive risk evaluation to identify and reduce potential failures that may occur during a procedure within a quality management programme. One of the procedures performed in assisted reproduction technology centres is testicular sperm extraction (TESE) as treatment of azoospermic patients. To examine the risks associated with the 'TESE management' process, we applied the FMEA method, before and after implementation of corrective measures defined in a standard operative procedure (SOP).

Paradoxical deterioration in seizure control due to anticonvulsant-induced hypocalcaemia.

Hepatic cytochrome P450 enzyme induction is associated with certain antiepileptic drugs (AEDs) and may result in hypocalcaemia secondary to vitamin D deficiency. We report a case of a 44-year-old man with a history of epilepsy, who presented with breakthrough seizures after having previously been seizure-free for 11 years. Investigations revealed severe hypocalcaemia with a corrected calcium of 1.

Effects of a Simulated Acute Oil Spillage on Bacterial Communities from Arctic and Antarctic Marine Sediments.

Background: The bacterial community responses to oil spill events are key elements to predict the fate of hydrocarbon pollution in receiving aquatic environments. In polar systems, cold temperatures and low irradiance levels can limit the effectiveness of contamination removal processes. In this study, the effects of a simulated acute oil spillage on bacterial communities from polar sediments were investigated, by assessing the role of hydrocarbon mixture, incubation time and source bacterial community in selecting oil-degrading bacterial phylotypes.

Co-circulation of the two influenza B lineages during 13 consecutive influenza surveillance seasons in Italy, 2004-2017.

Background: Since 1985, two antigenically distinct lineages of influenza B viruses (Victoria-like and Yamagata-like) have circulated globally. Trivalent seasonal influenza vaccines contain two circulating influenza A strains but a single B strain and thus provide limited immunity against circulating B strains of the lineage not included in the vaccine. In this study, we describe the characteristics of influenza B viruses that caused respiratory illness in the population in Italy over 13 consecutive seasons of virological surveillance, and the match between the predominant influenza B lineage and the vaccine B lineage, in each season.

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

Infantile onset cardiomyopathies are highly heterogeneous with several phenocopies compared with adult cardiomyopathies. Multidisciplinary management is essential in determining the underlying etiology in children's cardiomyopathy. Elevated urinary excretion of 3-methylglutaconic acid (3-MGA) is a useful tool in identifying the etiology in some metabolic cardiomyopathy.

Antarctic sponges from the Terra Nova Bay (Ross Sea) host a diversified bacterial community.

Sponges represent important habitats for a community of associated (micro)organisms. Even if sponges dominate vast areas of the Antarctic shelves, few investigations have been performed on Antarctic sponge-associated bacteria. Using a culture-dependent approach, the composition of the bacterial communities associated with 14 Antarctic sponge species from different sites within the Terra Nova Bay (Ross Sea) area was analyzed.

Invariant NKT Cells and Rheumatic Disease: Focus on Primary Sjogren Syndrome.

Primary Sjogren syndrome (pSS) is a complex autoimmune disease mainly affecting salivary and lacrimal glands. Several factors contribute to pSS pathogenesis; in particular, innate immunity seems to play a key role in disease etiology. Invariant natural killer (NK) T cells (iNKT) are a T-cell subset able to recognize glycolipid antigens.

Safety and tolerability of Meningococcus B vaccine in patients with chronical medical conditions (CMC).

Background: Invasive meningococcal disease is a serious global health threat in the world; in 2016, the European Centre for Disease Control and Prevention reported 3280 confirmed cases (including 304 deaths) of Invasive Meningococcal Diseases in Europe. In Italy, in 2017 were reported 200 cases 41% of which due to menB serogroup. From January 2013 the European Medicines Agency (EMA) has authorized the marketing of the meningococcal B vaccine 4CMenB.

Thyroid Disorders and Prognosis in Chronic Heart Failure: A Long-Term Follow-Up Study.

Background: Thyroid disorders may have a negative impact on the prognosis of patients affected by chronic heart failure (CHF).

Objective: The aim of the current study was to evaluate the prognostic role of all thyroid disorders over a long term follow-up in a single centre large sample of CHF outpatients.

Methods: In all patients, the function of the thyroid was evaluated at the enrolment and during the follow- up.

Secondary Autochthonous Outbreak of Chikungunya, Southern Italy, 2017.

In 2017, a chikungunya outbreak in central Italy later evolved into a secondary cluster in southern Italy, providing evidence of disease emergence in new areas. Officials have taken action to raise awareness among clinicians and the general population, increase timely case detection, reduce mosquito breeding sites, and promote mosquito bite prevention.

Let's Get Digital: Understanding Adolescent Romantic Relationships Using Naturalistic Assessments of Digital Communication.

Adolescent romantic relationships involve complex patterns of interaction. Innovative technological advances offer opportunities to capture features and dynamics of these relationships that traditional research methods have not addressed. With the explosion of digital communication platforms (e.

Microbial Assemblages in Pressurized Antarctic Brine Pockets (Tarn Flat, Northern Victoria Land): A Hotspot of Biodiversity and Activity.

Two distinct pressurized hypersaline brine pockets (named TF4 and TF5), separated by a thin ice layer, were detected below an ice-sealed Antarctic lake. Prokaryotic (bacterial and archaeal) diversity, abundances (including virus-like particles) and metabolic profiles were investigated by an integrated approach, including traditional and new-generation methods. Although similar diversity indices were computed for both Bacteria and Archaea, distinct bacterial and archaeal assemblages were observed.

Ionic liquid gels and antioxidant carbon nanotubes: Hybrid soft materials with improved radical scavenging activity.

Hypothesis: Performances of materials are frequently affected by the action of radicals that can induce their degradation. To overcome the above issue, natural antioxidants (AOs) can be added during manufacturing. Considering the high instability of AOs, they have been adsorbed on carbon nanomaterials surface.

Determinants of vaccination uptake, and influenza vaccine effectiveness in preventing deaths and hospital admissions in the elderly population; Treviso, Italy, 2014/2015-2016/2017 seasons.

Seasonal influenza is an important cause of morbidity and mortality, particularly among the elderly population. Determinants of vaccination uptake and its impact on health outcomes in the seasons 2014/2015-2016/2017 in elderly living in Treviso area (Veneto Region, North-Eastern Italy) were evaluated. A retrospective cohort study was conducted combining information from several health administrative databases, and multiple Poisson regression models were applied to evaluate the influenza vaccine effectiveness, also adjusting for confounding factors.

Investigating the impact of influenza on excess mortality in all ages in Italy during recent seasons (2013/14-2016/17 seasons).

Objectives: In recent years, Italy has been registering peaks in death rates, particularly among the elderly during the winter season. Influenza epidemics have been indicated as one of the potential determinants of such an excess. The objective of our study was to estimate the influenza-attributable contribution to excess mortality during the influenza seasons from 2013/14 to 2016/17 in Italy.