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Background and aimsX lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of SH2D1A, encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohistiocytosis (HLH), and B-cell lymphomas.MethodsWe 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.ResultsThe lesion was indistinguishable from lymphoma, complicating diagnosis and treatment. In addition, considering the high incidence of lymphoma in patients with XLP1, histology helped define its nature, driving therapeutic choices.ConclusionWe described an unusual presentation of incomplete HLH in a patient affected with XLP1: an EBV-driven infiltration of the orbits and paranasal sinuses. This led us to a challenging differential diagnosis of lymphoma-associated hemophagocytic syndrome, which can be frequently observed in patients with XLP1. Considering the extremely poor prognosis of this clinical finding, we sought for a prompt diagnosis and managed to obtain it and to immediately establish the right treatment on the basis of the pathological finding.

Primary hemophagocytic lymphohistiocytosis (pHLH) is a severe, life-threatening hyperinflammatory syndrome caused by defects in genes of the granule-dependent cytotoxic pathway. Here we investigated the clinical presentation and outcome in a large cohort of 143 patients with pHLH diagnosed in the last 15 years and enrolled in the Italian registry. The median age at diagnosis was 12 months (IQR 2-81), and ninety-two patients (64%) fulfilled the HLH-2004 criteria. Out of 111 patients who received first-line combined therapy (HLH-94, HLH-2004, Euro-HIT protocols), 65 (59%) achieved complete response (CR) and 21 (19%) partial response (PR). Thereafter, 33 patients (30%) reactivated, and 92 (64%) received HSCT, 78 of whom (85%) survived and were alive at a median follow-up from diagnosis of 67 months. Thirty-six patients (25%) died before HSCT and 14 (10%) after. Overall, 93 patients (65%) were alive after a median follow-up of 30 months. Unadjusted predictors of non-response were age

Langerhans cell histiocytosis (LCH) is a myeloid neoplasm characterized by a clonal proliferation of CD1a+/CD207+ dendritic cells. Although individuals of any age can be affected, the disease is most common in infants younger than 5 years of age, especially males. A wide range of manifestations, from asymptomatic to aggressive, have been described, along with multiorgan involvement. Even though the majority of bone lesions are observed, skin, lymph nodes, brain and lungs can also be involved. The involvement of hematopoietic system, including bone marrow, liver and spleen, is less frequent yet associated with worse prognosis, due to a worse treatment response. Diagnosis of LCH is based on the integration of clinical, laboratory, and radiological data; however, only histopathological examination might confirm it. As far as the spleen involvement is concerned, according to literature, it has been reported in about 15% patients with multisystem involvement, nonetheless only a few cases show parenchymal lesions. The present study reports the case of an infant with LCH with multisystem involvement, including bone, skin, liver, and spleen, with evidence of parenchymal lesions.

The autofiction is often defined as a false biography. However, considering how the authors today are used to mediatize their selves, trying to make themselves look like their own character, we can think of autofiction as a true biography of a fictional author. In fact, analyzing the different versions of the of a single author in these kinds of novels, we can see that each has their own biography, and their proper style. Therefore, it is possible to think of them as heteronym of the author, having the same name, giving the result of a quadratic heteronomy which changes the approach that the reader should have to the text.

The article discusses a case study of a newborn with high-risk Langerhans cell histiocytosis (LCH) treated with a combination of Vemurafenib, cytarabine, and cladribine. The patient showed clinical improvement and durable remission, but the BRAFV600E-positive clone persisted despite treatment. The study highlights the challenges in eradicating the mutant clone in LCH patients, emphasizing the importance of long-term molecular monitoring to assess treatment effectiveness. The authors suggest that while clinical efficacy is crucial, achieving a definitive cure may require eradicating the mutant clone residing in the bone marrow. [Extracted from the article]

The amygdala, and more precisely its lateral nucleus, is thought to attribute emotional valence to external stimuli by generating long-term plasticity changes at long-range projections to principal cells. Aversive experience has also been shown to modify pre- and post-synaptic markers in the amygdala, suggesting their possible role in the structural organization of adult amygdala networks. Here, we focused on how the maturation of cortical and thalamic long-range projections occurs on principal neurons and interneurons in the lateral amygdala (LA). We performed dual electrophysiological recordings of identified cells in juvenile and adult GAD67-GFP mice after independent stimulation of cortical and thalamic afferent systems. The results demonstrate that synaptic strengthening occurs during development at synapses projecting to LA principal neurons, but not interneurons. As synaptic strengthening underlies fear conditioning which depends, in turn, on presence and increasing expression of synapsin I, we tested if synapsin I contributes to synaptic strengthening during development. Interestingly, the physiological synaptic strengthening of cortical and thalamic synapses projecting to LA principal neurons was virtually abolished in synapsin I knockout mice, but not differences were observed in the excitatory projections to interneurons. Immunohistochemistry analysis showed that the presence of synapsin I is restricted to excitatory contacts projecting to principal neurons in LA of adult mice. These results indicate that synapsin I is a key regulator of the maturation of synaptic connectivity in this brain region and that is expression is dependent on postsynaptic identity.

Nowadays, the increasing interest in new market demand for alcoholic beverages has stimulated the research on useful strategies to reduce the ethanol content in beer. In this context, the use of non-Saccharomyces yeasts to produce low-alcohol or alcohol-free beer may provide an innovative approach for the beer market. In our study, four wild non-Saccharomyces yeasts, belonging to Torulaspora delbrueckii, Candida zemplinina and Zygosaccharomyces bailii species, were tested in mixed fermentation with a wild selected Saccharomyces cerevisiae strain as starters for fermentation of different commercial substrates used for production of different beer styles (Pilsner, Weizen and Amber) to evaluate the influence of the fermentative medium on starter behaviour. The results obtained showed the influence of non-Saccharomyces strains on the ethanol content and organoleptic quality of the final beers and a significant wort–starter interaction. In particular, each starter showed a different sugar utilization rate in each substrate, in consequence of uptake efficiency correlated to the strain-specific metabolic pathway and substrate composition. The most suitable mixed starter was P4-CZ3 (S. cerevisiae–C. zemplinina), which is a promising starter for the production of low-alcohol beers with pleasant organoleptic characteristics in all the tested fermentation media.