Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Cardiac involvement (CI) in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects. A genotype-phenotype correlation with organ involvement has not yet been described.

Molecular Biodiversity in and : A Valuable Tool to Distinguish the Two Sister Species and Determine the Beauvericin Chemotype.

and are widely distributed maize pathogens recognized as distinct species with a species-specific chemotype based on patterns of mycotoxins. Recent comparative genomic analysis revealed that genomes of both species carry a complete beauvericin () biosynthetic genes cluster, but the key gene in is not functional likely due to a large insertion (NRPS22ins) and multiple mutations (SNP298 and SNP528). We used the recently published genome sequences for these species to develop PCR markers for investigating the distribution of three main mutations in the gene in a large collection of strains of both species from around the world.

Sex Differences in Blood Accumulation of Neurodegenerative-Related Proteins and Antioxidant Responses to Regular Physical Exercise.

Physical activity has been demonstrated to improve cognitive function, thereby preventing/slowing neurodegenerative diseases (NDs). Biological responses to physical activity and vulnerabilities to NDs are emerging to be gender-related. Herein, known ND-associated markers (β-amyloid, tau, α-synuclein), main sex steroid hormones, antioxidant responses, and key gene transcription modulators were evaluated in the blood of physically active and sedentary women and men.

Endometrial Dysbiosis: A Possible Association with Estrobolome Alteration.

Background/objectives: Microbiota modification at the endometrial level can favor gynecological diseases and impair women's fertility. The overgrowth of pathogen microorganisms is related to the contemporary alteration of estrogen-metabolizing bacteria, including β-glucuronidase, thereby enhancing estrogen-related inflammatory states and decreasing anti-inflammatory cells. The possible connection between estrobolome impairment and gynecological diseases has been suggested in animal models.

Analysis of composition and molecular characterization of mycobiota occurring on surface of cheese ripened in Dossena's mine.

Accurate identification of the fungal community spontaneously colonizing food products, aged in natural and not controlled environments, provides information about potential mycotoxin risk associated with its consumption. Autochthonous mycobiota colonizing cheese aging in Dossena mines, was investigated and characterized by two approaches: microbial isolations and metabarcoding. Microbial isolations and metabarcoding analysis were conducted on cheese samples, obtained by four batches, produced in four different seasons of the year, aged for 90 and 180 days, by five dairy farms.

Focused ultrasound therapy in movement disorders: management roadmap toward optimal pathway organization.

MRI-guided focused ultrasound (MRgFUS) lesioning is an innovative, safe and effective treatment which provides an innovative development in the field of minimally invasive stereotactic neurosurgery. Based on the application of focused ultrasound energy under full MR planning and thermal imaging control, unilateral lesioning of the thalamus, subthalamic nucleus, and globus pallidus is indicated for the treatment of movement disorders, including essential tremor, Parkinson's disease, and dystonia. We started to apply this technique in February 2019 for the treatment of patients with movement disorders.

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its association with parental stress and medical characteristics.

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel Variant and Its Unreported Phenotype.

The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. The gene encodes a protein subunit of the serine/threonine protein phosphatase 2A enzyme, which plays a critical role in cellular function.

Hybrid Surgery to Manage Aortic Arch Pathology.

: Aortic arch disease is still a high-risk surgical challenge despite major advances both in surgical and anesthesiological management. A combined surgical and endovascular approach has been proposed for aortic arch disease treatment to avoid hypothermia and circulatory arrest in high-risk patients. : Between June 2004 and June 2021, 112 patients were referred to our department for aortic arch surgery; 38 (33.

Soccer in the time of COVID-19: 1 year report from an Italian top league club, March 2020-February 2021.

We report the events of an Italian top league soccer club that took place in 1 year (from March 2020 to February 2021) at the time of coronavirus disease 2019 (COVID-19) pandemic. In early March 2020, just before sport competitions were called off due to the national lockdown in Italy, the team, which included 27 players and 26 staff at the time, faced a COVID-19 outbreak, with 16 confirmed and seven probable cases, including three staff members who had to be hospitalised. In May 2020, at the resumption of the training sessions, a high prevalence of anti-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) immunoglobulin G positivity (35/53, 66%) was detected among the members of the group.

A PCR method to identify ochratoxin A-producing Aspergillus westerdijkiae strains on dried and aged foods.

Ochratoxins are a group of mycotoxins that frequently occur as contaminants in agricultural commodities and foods, including dry-cured meats and cheeses. The fungus Aspergillus westerdijkiae is frequently isolated from aged foods and can produce ochratoxin A (OTA). However, individual strains of the fungus can have one of two OTA production phenotypes (chemotypes): OTA production and OTA nonproduction.

Is extensive cardiopulmonary screening useful in athletes with previous asymptomatic or mild SARS-CoV-2 infection?

Objective: During the COVID-19 pandemic, it is essential to understand if and how to screen SARS-CoV-2-positive athletes to safely resume training and competitions. The aim of this study is to understand which investigations are useful in a screening protocol aimed at protecting health but also avoiding inappropriate examinations.

Methods: We conducted a cohort study of a professional soccer team that is based on an extensive screening protocol for resuming training during the COVID-19 pandemic.

Isolation, Molecular Identification, and Mycotoxin Production of Species Isolated from the Rhizosphere of Sugarcane in the South of Iran.

Knowledge of the genetic diversity detected among fungal species belonging to the genus is of key importance for explaining their important ecological role in the environment and agriculture. The current study aimed to identify species occurring in the rhizosphere of sugarcane in the South of Iran, and to investigate their mycotoxin profiles. One-hundred and twenty-five strains were isolated from the soil of eight major sugarcane-producing sites, and were molecularly identified using sequences of partial -tubulin () and partial calmodulin () genes.

Fungal Planet description sheets: 785-867.

Novel species of fungi described in this study include those from various countries as follows: , and on unknown host plants. , on (incl. gen.

Fungal mycobiota and mycotoxin risk for traditional artisan Italian cave cheese.

Cave cheese is a surface mold-ripened variety of cheese produced also in South of Italy, exploiting fungal population naturally occurring on cave walls, as part of secondary microbiota for ripening. In this study, 148 fungal strains were isolated from 22 independent cave cheese samples, collected in 13 Italian geographical locations, mostly in Apulian area. DNA-based identification showed the presence of twenty-four fungal species in the outer part of the cheese ripened in caves.

Penicillium gravinicasei, a new species isolated from cave cheese in Apulia, Italy.

Several species of the genus Penicillium were isolated during a survey of the mycobiota of Apulian cave cheeses ripened in a cave in Gravina di Puglia, Italy. A novel species, Penicillium gravinicasei, is described in Penicillium section Cinnamopurpurea. Its taxonomic novelty was determined using a polyphasic approach, combining phenotypic, molecular (β-tubulin, calmodulin, ITS and DNA dependent RNA polymerase) DNA sequences and mycotoxin production data.

Cannabis Essential Oil: A Preliminary Study for the Evaluation of the Brain Effects.

We examined the effects of essential oil from legal (THC <0.2% w/v) hemp variety on the nervous system in 5 healthy volunteers. GC/EIMS and GC/FID analysis of the EO showed that the main components were myrcene and -caryophyllene.

Identification of a Halogenase Involved in the Biosynthesis of Ochratoxin A in Aspergillus carbonarius.

Unlabelled: Aspergillus carbonarius is the main responsible fungus of ochratoxin A (OTA) contamination of grapes and derived products. To date, the biosynthetic mechanism of this mycotoxin has been partially elucidated. Availability of genome sequence of A.

Calcinosis in systemic sclerosis: subsets, distribution and complications.

Objective: To retrospectively analyse the features of calcinosis in a cohort of SSc patients.

Methods: Charts of SSc patients attending the Ulcer Unit of the Rheumatology Department, University of Florence and presenting a clinical suspicion of calcinosis were considered in the study. Data on clinical history, including recent skin changes, and clinical examination of all areas with suspected calcinosis, radiological imaging of the calcinotic area, demographics and SSc-related organ involvement and pain measured by a visual analogue scale were recorded.

Assessment, Definition, and Classification of Lower Limb Ulcers in Systemic Sclerosis: A Challenge for the Rheumatologist.

Objective: To evaluate pathogenesis and clinical features of lower limb ulcers in systemic sclerosis (SSc) and to propose a classification that could be used in clinical practice.

Methods: Charts of 60 patients with SSc who had lower limb cutaneous lesions were reviewed. All patients had videocapillaroscopy and arterial and venous lower limb color Doppler ultrasonography (US).

Risk of malnutrition in a sample of nonagenarians: Specific versus classic bioelectrical impedance vector analysis.

Objectives: The aims were to describe the body composition and the risk of malnutrition in a sample of nonagenarians and to identify what bioelectrical impedance vector analysis (BIVA) approach (classic or specific) is more correlated with either the risk of malnutrition or various anthropometric parameters.

Methods: In the Mugello area (Italy), a representative sample of nonagenarians was enrolled in a survey aimed at investigating various health issues, including those related to nutritional status. The nutritional status was investigated using body mass index (BMI), mid-upper arm circumference (MUAC), calf circumference (CC), Malnutrition Universal Screening Tool (MUST), and BIVA.

Rapid prediction of ochratoxin A-producing strains of Penicillium on dry-cured meat by MOS-based electronic nose.

The availability of rapid diagnostic methods for monitoring ochratoxigenic species during the seasoning processes for dry-cured meats is crucial and constitutes a key stage in order to prevent the risk of ochratoxin A (OTA) contamination. A rapid, easy-to-perform and non-invasive method using an electronic nose (e-nose) based on metal oxide semiconductors (MOS) was developed to discriminate dry-cured meat samples in two classes based on the fungal contamination: class P (samples contaminated by OTA-producing Penicillium strains) and class NP (samples contaminated by OTA non-producing Penicillium strains). Two OTA-producing strains of Penicillium nordicum and two OTA non-producing strains of Penicillium nalgiovense and Penicillium salamii, were tested.

Effect of temperature and water activity on gene expression and aflatoxin biosynthesis in Aspergillus flavus on almond medium.

Almonds are among the commodities at risk of aflatoxin contamination by Aspergillus flavus. Temperature and water activity are the two key determinants in pre and post-harvest environments influencing both the rate of fungal spoilage and aflatoxin production. Varying the combination of these parameters can completely inhibit or fully activate the biosynthesis of aflatoxin, so it is fundamental to know which combinations can control or be conducive to aflatoxin contamination.