Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in Gene: A Founder Effect?

MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality due to limited access to healthcare services. We describe three unrelated patients from the Campania region in Italy with MyD88 deficiency, all belonging to Roma descent and displaying severe or recurrent infections in early infancy.

Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI).

Background: Inborn errors of immunity (IEIs) are more than 500 different rare congenital disorders of the immune system characterized by susceptibility to infections and immune dysregulation. The significant overlap of the clinical features among the different forms may lead to diagnostic delay. High throughput sequencing techniques may allow a timely genetic definition.

MicroRNA dysregulation in ataxia telangiectasia.

Introduction: Ataxia telangiectasia (AT) is a rare disorder characterized by neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and high clinical variability. Profiling of microRNAs (miRNAs) may offer insights into the underlying mechanisms of complex rare human diseases, as miRNAs play a role in various biological functions including proliferation, differentiation, and DNA repair. In this study, we investigate the differential expression of miRNAs in samples from AT patients to identify miRNA patterns and analyze how these patterns are related to the disease.

Have I Been Touched? Subjective and Objective Aspects of Tactile Awareness.

Somatosensory tactile experience is a key aspect of our interaction with the environment. It is involved in object manipulation, in the planning and control of actions and, in its affective components, in the relationships with other individuals. It is also a foundational component of body awareness.

Efficacy of F-ACP-Containing Dental Mousse in the Remineralization of White Spot Lesions after Fixed Orthodontic Therapy: A Randomized Clinical Trial.

Fixed appliance (FA) therapy predisposes patients to white spot lesions (WSLs). The F-ACP complex (amorphous calcium phosphate nanoparticles enriched with carbonate and fluorine and coated with citrate) has been effective for in vitro enamel remineralization. The aim of this study was to evaluate the efficacy of the F-ACP complex in remineralizing WSLs after FA therapy.

Impact of temperature on physical and cognitive performance in elite female football players during intermittent exercise.

There is limited research on female football players, especially related to their physical and cognitive performance under different climactic conditions. We analyzed the impact of a hot environmental temperature on physical performance and anticipation in elite female football players during a fatigue-inducing intermittent protocol. Elite female players (n = 21) performed the countermovement jump (CMJ) and responded to filmed sequences of offensive play under two distinct environmental temperatures (i.

Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1.

Background And Aims: X lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of , encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohistiocytosis (HLH), and B-cell lymphomas.

Methods: We report the case of a child affected with XLP1 who presented with an incomplete HLH, triggered by Epstein-Barr virus (EBV) and treated with rituximab, involving orbits and paranasal sinuses.

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.

Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems.

The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.

Purpose: Inborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI and, thus, at high risk of misdiagnosis or diagnostic delay. This study aimed to validate a platform that, through the opinion of immunologist experts, improves the diagnostic process and the level of care of patients with atypical/complex IEI.

The Use of Isoflurane and Adjunctive Magnesium Chloride Provides Fast, Effective Anaesthetization of .

A wide variety of substances have been used to anaesthetise invertebrates, but many are not anaesthetics and merely incapacitate animals rather than preventing pain. In essence, the role of an ideal general anaesthetic is to act as a muscle relaxant, an analgesic, an anaesthetic, and an amnesic. To achieve all these properties with a single substance is difficult, and various adjuvants usually need to be administered, resulting in a cocktail of drugs.

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evolving. Since it was first described in 2011, up to 500 patients have been reported. Here, we describe a cohort of 31 Italian patients (26 families) with molecular diagnosis of GATA2 deficiency.

Rare solid tumors in a patient with Wiskott-Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature.

Background And Aims: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder characterized by severe eczema, recurrent infections, and micro-thrombocytopenia. Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative therapeutic option for patients with classic form. The risk of developing post-transplant tumors appears to be higher in patients with WAS than in other inborn errors of immunity (IEIs), but the actual incidence is not well defined, due to the scarcity of published data.

Modulation of vestibular input by short-term head-down bed rest affects somatosensory perception: implications for space missions.

Introduction: On Earth, self-produced somatosensory stimuli are typically perceived as less intense than externally generated stimuli of the same intensity, a phenomenon referred to as somatosensory attenuation (SA). Although this phenomenon arises from the integration of multisensory signals, the specific contribution of the vestibular system and the sense of gravity to somatosensory cognition underlying distinction between self-generated and externally generated sensations remains largely unknown. Here, we investigated whether temporary modulation of the gravitational input by head-down tilt bed rest (HDBR)-a well-known Earth-based analog of microgravity-might significantly affect somatosensory perception of self- and externally generated stimuli.

Learning models for classifying Raman spectra of genomic DNA from tumor subtypes.

An early and accurate detection of different subtypes of tumors is crucial for an effective guidance to personalized therapy and in predicting the ability of tumor to metastasize. Here we exploit the Surface Enhanced Raman Scattering (SERS) platform, based on disordered silver coated silicon nanowires (Ag/SiNWs), to efficiently discriminate genomic DNA of different subtypes of melanoma and colon tumors. The diagnostic information is obtained by performing label free Raman maps of the dried drops of DNA solutions onto the Ag/NWs mat and leveraging the classification ability of learning models to reveal the specific and distinct physico-chemical interaction of tumor DNA molecules with the Ag/NW, here supposed to be partly caused by a different DNA methylation degree.

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

Background/objectives: Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A-T. We aimed to understand the current international practice regarding cancer surveillance in A-T and agreed-upon approaches to develop cancer surveillance in A-T.

Virtual reality rehabilitation for unilateral spatial neglect: A systematic review of immersive, semi-immersive and non-immersive techniques.

Introduction: In recent decades, new virtual reality (VR)-based protocols have been proposed for the rehabilitation of Unilateral Spatial Neglect (USN), a debilitating disorder of spatial awareness. However, it remains unclear which type of VR protocol and level of VR immersion can maximize the clinical benefits. To answer these questions, we conducted a systematic review of the use of VR for the rehabilitation of USN.

Relationship between Bioelectrical Impedance Phase Angle and Upper and Lower Limb Muscle Strength in Athletes from Several Sports: A Systematic Review with Meta-Analysis.

The phase angle (PhA) of bioelectrical impedance is determined by primary factors such as age, body mass index and sex. The researchers' interest in applying PhA to better understand the skeletal muscle property and ability has grown, but the results are still heterogeneous. This systematic review with a meta-analysis aimed to examine the existence of the relationship between PhA and muscle strength in athletes.

Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.

Job's syndrome, or autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES, STAT3-Dominant Negative), is a rare inborn error of immunity (IEI) with multi-organ involvement and long-life post-infective damage. Longitudinal registries are of primary importance in improving our knowledge of the natural history and management of these rare disorders. This study aimed to describe the natural history of 30 Italian patients with AD-HIES recorded in the Italian network for primary immunodeficiency (IPINet) registry.

Transport and nonequilibrium phase transitions in polygonal urn models.

We study the deterministic dynamics of N point particles moving at a constant speed in a 2D table made of two polygonal urns connected by an active rectangular channel, which applies a feedback control on the particles, inverting the horizontal component of their velocities when their number in the channel exceeds a fixed threshold. Such a bounce-back mechanism is non-dissipative: it preserves volumes in phase space. An additional passive channel closes the billiard table forming a circuit in which a stationary current may flow.

Statistical Classification for Raman Spectra of Tumoral Genomic DNA.

We exploit Surface-Enhanced Raman Scattering (SERS) to investigate aqueous droplets of genomic DNA deposited onto silver-coated silicon nanowires, and we show that it is possible to efficiently discriminate between spectra of tumoral and healthy cells. To assess the robustness of the proposed technique, we develop two different statistical approaches, one based on the Principal Components Analysis of spectral data and one based on the computation of the ℓ2 distance between spectra. Both methods prove to be highly efficient, and we test their accuracy via the Cohen's κ statistics.

Quantitative analysis of phase formation and growth in ternary mixtures upon evaporation of one component.

We perform a quantitative analysis of Monte Carlo simulation results of phase separation in ternary blends upon evaporation of one component. Specifically, we calculate the average domain size and plot it as a function of simulation time to compute the exponent of the obtained power law. We compare and discuss results obtained by two different methods, for three different models: two-dimensional (2D) binary-state model (Ising model), 2D ternary-state model with and without evaporation.

Neonatal alloimmune neutropenia: diagnosis and management of 31 Italian patients.

Background: In neonates, antibody-mediated destruction of neutrophils may occur as a consequence of auto- or isoimmune disorders. There are few studies on this topic, and particularly on neonatal alloimmune neutropenia (NAN).

Materials And Methods: We retrospectively evaluated the clinical and molecular/serological findings of 83 neutropenic infants referred to our Reference Laboratory for diagnostic evaluation of NAN, from 2008 to 2021.