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Purpose: The presence of many asymptomatic COVID-19 cases may increase the risks of disease dissemination, mainly for physicians. There are numerous reports on the frequent findings of sudden anosmia or hyposmia, before or at the same time of the typical COVID-19 symptoms onset. The aim of this study was to verify the association of olfactory impairment and COVID-19, providing a basis for subsequent research in the field of COVID-19 clinical heterogeneity. Methods: We developed a 15-item online questionnaire on “Sudden Olfactory Loss (SOL) and COVID-19” that was administered during March 2020 to Italian general practitioners registered to a social media group. Results: One hundred and eighty responses were received. SOL was identified as a significant sign of infection in COVID-19 patients, mainly aged between 30 and 40 years, even in the absence of other symptoms. SOL was present as an initial symptom in 46.7% of subjects, and in 16.7%, it was the only symptom. Among the COVID-19 confirmed cases, SOL occurred as the only symptom in 19.2% of patients. Conclusion: SOL could represent a possible early symptom in otherwise asymptomatic COVID-19 subjects. Subjects affected by SOL should be considered as potential COVID-19 cases. Level of evidence: 4.

We prove a Korovkin-type approximation theorem using the relative uniform convergence of a sequence of functions at a point, which is a method stronger than the classical ones. We give some examples on this new convergence method and we study also rates of convergence.

Chromosome 22q13.3 deletion (Phelan McDermid) syndrome (PMS) is a rare genetic neurodevelopmental disorder resulting from deletions or other genetic variants on distal 22q. Pathological variants of the SHANK3 gene have been identified, but terminal chromosomal deletions including SHANK3 are most common. Terminal deletions disrupt up to 108 protein-coding genes. The impact of these losses is highly variable and includes both significantly impairing neurodevelopmental and somatic manifestations. The current review combines two metrics, prevalence of gene loss and predicted loss pathogenicity, to identify likely contributors to phenotypic expression. These genes are grouped according to function as follows: molecular signaling at glutamate synapses, phenotypes involving neuropsychiatric disorders, involvement in multicellular organization, cerebellar development and functioning, and mitochondrial. The likely most impactful genes are reviewed to provide information for future clinical and translational investigations.

Affine representations for archimedean $${\ell}$$ -groups and semisimple MV-algebras via embedding theorems are presented; they are simple to work with but powerful enough to express significant properties of our studied objects. Indeed, we focus on the space of particular homomorphisms between an archimedean $${\ell}$$ -group (a semisimple MV-algebra, respectively) and a vector lattice (a Riesz MV-algebra, respectively), i.e., the set of the generalized states, providing a general framework.

We give some Korovkin-type theorems on convergence and estimates of rates of approximations of nets of functions, satisfying suitable axioms, whose particular cases are filter/ideal convergence, almost convergence and triangular A-statistical convergence, where A is a non-negative summability method. Furthermore, we give some applications to Mellin-type convolution and bivariate Kantorovich-type discrete operators.

We investigate some of the main properties of lattice group-valued k-triangular set functions and we prove some Brooks–Jewett, Nikodým, Vitali–Hahn–Saks and Schur-type theorems and their equivalence. A Drewnowski-type theorem on existence of continuous restrictions of (s)-bounded set functions is given.

This study is the first to describe age-related changes in a large cohort of patients with Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome. Over a follow-up period of up to 12 years, physical examinations and structured interviews were conducted for 201 individuals diagnosed with PMS, 120 patients had a focused, high-resolution 22q12q13 array CGH, and 92 patients' deletions were assessed for parent-of-origin. 22q13 genomic anomalies include terminal deletions of 22q13 (89 %), terminal deletions and interstitial duplications (9 %), and interstitial deletions (2 %). Considering different age groups, in older patients, behavioral problems tended to subside, developmental abilities improved, and some features such as large or fleshy hands, full or puffy eyelids, hypotonia, lax ligaments, and hyperextensible joints were less frequent. However, the proportion reporting an autism spectrum disorder, seizures, and cellulitis, or presenting with lymphedema or abnormal reflexes increased with age. Some neurologic and dysmorphic features such as speech and developmental delay and macrocephaly correlated with deletion size. Deletion sizes in more recently diagnosed patients tend to be smaller than those diagnosed a decade earlier. Seventy-three percent of de novo deletions were of paternal origin. Seizures were reported three times more often among patients with a de novo deletion of the maternal rather than paternal chromosome 22. This analysis improves the understanding of the clinical presentation and natural history of PMS and can serve as a reference for the prevalence of clinical features in the syndrome.

We prove some versions of modular convergence theorems for nonlinear Urysohn-type integral operators with respect to filter convergence. We consider pointwise filter convergence of functions giving also some applications to linear and nonlinear Mellin operators. We show that our results are strict extensions of the classical ones.

Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome. It has been shown that many genes associated with ASDs are involved in the neuroligin–neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients (133 patients from US and 88 from Italy). We found 5/221 (2.3%) cases with pathogenic alterations: a 106 kb deletion encompassing the SHANK3 gene, two frameshift mutations leading to premature stop codons, a missense mutation (p.Pro141Ala), and a splicing mutation (c.1820-4 G>A). Additionally, in 17 patients (7.7%) we detected a c.1304+48C>T transition affecting a methylated cytosine in a CpG island. This variant is reported as SNP rs76224556 and was found in both US and Italian controls, but it results significantly more frequent in our cases than in the control cohorts. The variant is also significantly more common among PDD-NOS cases than in AD cases. We also screened this gene in an independent replication cohort of 104 US patients with ASDs, in which we found a missense mutation (p.Ala1468Ser) in 1 patient (0.9%), and in 8 patients (7.7%) we detected the c.1304+48C>T transition. While SHANK3 variants are present in any ASD subtype, the SNP rs76224556 appears to be significantly associated with PDD-NOS cases. This represents the first evidence of a genotype–phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients.

We prove some modular convergence theorems for nonlinear Urysohn-type integral operators, applying filter convergence of sequences of functions. We give some applications to Mellin operators, including moment, Mellin-Poisson-Cauchy and Mellin-Gauss-Weierstrass operators. We show that our results are proper extensions of the classical ones, and we pose an open problem.

The problem of image restoration from blur and noise is studied. A solution of the problem is understood as the minimum of an energy function composed by two terms. The first is the data fidelity term, while the latter is related to the smoothness constraints. The discontinuities of the ideal image are unknown and must be estimated. In particular, the involved images are supposed to be piecewise continuous and with thin and continuous edges. In this paper we assume that the smoothness constraints can be either of the first order, or the second order, or the third order. The energy function that implicitly refers to discontinuities is called dual energy function. To minimize the non-convex dual energy, a GNC (Graduated Non-Convexity) technique is used. The GNC algorithm proposed in this paper is indicated as CATILED, short for Convex Approximation Technique for Interacting Line Elements Deblurring. We also prove in the Appendix the new duality Theorem 3 stated in Sect. 3. Theorem 3 shows that the first convex approximation defined in CATILED has good qualities for the reconstruction. The experimental results, given in Sect. 10, confirm the applicability of the technique.

We apply the theory of Differential and Integral Calculus in Riesz Spaces introduced in [1] and [4] to investigate some properties of the g-calculus and to solve some types of differential, functional and stochastic equations.

A Perron-type integral of order 1 and 2 for Riesz-space-valued functions is investigated. Some versions of integration by parts formula for this integral are proved for both orders.

Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disorder (ASD). Diagnosis of ASD in individuals with PMS is complicated by the presence of moderate to profound global developmental delay/intellectual disability as well as other co-morbid systemic and neurological symptoms. Methods The current study aimed to characterize the symptoms of ASD in patients with PMS and to do a preliminary exploration of genotype-ASD phenotype correlations. We conducted a standardized interview with 40 parents/guardians of children with PMS. Further, we conducted analyses on the relationship between disruption of SHANK3 and adjacent genes on specific characteristic symptoms of ASD in PMS in small subset of the sample. Results The majority of PMS participants in our sample displayed persistent deficits in Social communication, but only half met diagnostic criteria under the restricted, repetitive patterns of behavior, interests, or activities domain. Furthermore, logistic regressions indicated that general developmental delay significantly contributed to the ASD diagnosis. The analyses relating the PMS genotype to the behavioral phenotype revealed additional complex relationships with contributions of genes in both deleted and preserved SHANK3 regions to the ASD phenotype and other neurobehavioral impairments. Conclusions There appears to be a unique behavioral phenotype associated with ASD in individuals with PMS. There also appears to be contributions of genes in both deleted and preserved SHANK3 regions to the ASD phenotype and other neurobehavioral impairments. Better characterization of the behavioral phenotype using additional standardized assessments and further analyses exploring the relationship between the PMS genotype and behavioral phenotype in a larger sample are warranted. Electronic supplementary material The online version of this article (doi:10.1186/s13023-015-0323-9) contains supplementary material, which is available to authorized users.

We consider some inequalities in such classical Banach Function Spaces as Lorentz, Marcinkiewicz, and Orlicz spaces. Our aim is to explore connections between the norm of a function of two variables on the product space and the mixed norm of the same function, where mixed norm is calculated in function spaces on coordinate spaces, first in one variable, then in the other. This issue is motivated by various problems of functional analysis and theory of functions. We will currently mention just geometry of spaces of vector-valued functions and embedding theorems for Sobolev and Besov spaces generated by metrics which differ from L p. Our main results are actually counterexamples for Lorentz spaces versus the natural intuition that arises from the easier case of Orlicz spaces (Section 2). In the Appendix we give a proof for the Kolmogorov–Nagumo theorem on change of order of mixed norm calculation in its most general form. This result shows that L p is the only space where it is possible to change this order.

Let\(\Omega \subseteq \mathbb{R}^N \), N≧3 be an open set. In this paper we study weak positive solutions of the following semilinear system Open image in new window where p≧1, q≧1, with pq>1, and u∈Lq(Ω), v∈Lp(Ω), and we give in particular some regularity results. Furthermore, we give some applications to the biharmonic equation.

Scopo del lavoro e di studiare la stabilita asintotica per le soluzioni di problemi di evoluzione astratti. Si considerano operatori differenziali quali ilp-Laplaciano, e il poliarmonico, termini smorzanti e fortemente smorzanti, potenziali di richiamo o di sorgente.

Background Autism spectrum disorders (ASDs) are relatively common neurodevelopmental conditions whose biological basis has been incompletely determined. Several biochemical markers have been associated with ASDs, but there is still no laboratory test for these conditions. Methods We analyzed the metabolic profile of lymphoblastoid cell lines from 137 patients with neurodevelopmental disorders with or without ASDs and 78 normal individuals, using Biolog Phenotype MicroArrays. Results Metabolic profiling of lymphoblastoid cells revealed that the 87 patients with ASD as a clinical feature, as compared to the 78 controls, exhibited on average reduced generation of NADH when tryptophan was the sole energy source. The results correlated with the behavioral traits associated with either syndromal or non-syndromal autism, independent of the genetic background of the individual. The low level of NADH generation in the presence of tryptophan was not observed in cell lines from non-ASD patients with intellectual disability, schizophrenia or conditions exhibiting several similarities with syndromal autism except for the behavioral traits. Analysis of a previous small gene expression study found abnormal levels for some genes involved in tryptophan metabolic pathways in 10 patients. Conclusions Tryptophan is a precursor of important compounds, such as serotonin, quinolinic acid, and kynurenic acid, which are involved in neurodevelopment and synaptogenesis. In addition, quinolinic acid is the structural precursor of NAD+, a critical energy carrier in mitochondria. Also, the serotonin branch of the tryptophan metabolic pathway generates NADH. Lastly, the levels of quinolinic and kynurenic acid are strongly influenced by the activity of the immune system. Therefore, decreased tryptophan metabolism may alter brain development, neuroimmune activity and mitochondrial function. Our finding of decreased tryptophan metabolism appears to provide a unifying biochemical basis for ASDs and perhaps an initial step in the development of a diagnostic assay for ASDs.