Publications by authors named "Marcelo Teocchi"

Article Synopsis
  • A study in Piedmont, Italy evaluated the impact of an Allergy Call Center (ACC) program established to support patients at high risk for allergic reactions during the COVID-19 vaccination campaign.
  • The ACC operated from May 2021 to December 2022, receiving 15,865 calls, with only 336 patients needing further referral to the specialized unit, indicating effective management of consultations.
  • Overall, the study highlighted the success of proactive screening in reducing allergy-related concerns linked to COVID-19 vaccination, streamlining the referral process for high-risk patients.
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Article Synopsis
  • The study explores how different BTK mutations in X-linked agammaglobulinemia (XLA) impact TLR signaling pathways, potentially affecting the severity of the disease.
  • Researchers quantified gene expression related to TLR pathways in XLA patients with different BTK mutations compared to healthy controls, finding varying levels of regulation among key genes.
  • The results suggest that abnormal expression levels of certain TLR genes could make XLA patients more prone to infections or contribute to chronic inflammatory diseases, highlighting the inflammatory aspect present even with treatment.
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STAT3 is a cytokine-signaling transcription factor critical for gene regulation. Gain-of-function (GOF) mutations in STAT3 are associated with lymphoproliferation, autoimmune cytopenias, increased susceptibility to infection, early-onset solid-organ autoimmunity, short stature, and eczema. We studied the JAK/STAT signaling pathway gene expression and the cytokine profile in two families carrying STAT3-GOF variants to shed light on the STAT3-GOF-associated variable expressivity, including the identification of disease markers.

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Most cases of autoimmune lymphoproliferative syndrome (ALPS) have an inherited genetic defect involving apoptosis-related genes of the FAS pathway. MicroRNAs (miRNAs) are a class of small non-coding regulatory RNAs playing a role in the control of gene expression. This is the first report on miRNAs in ALPS patients.

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Seizure models have demonstrated that neuroinflammation and neurodegeneration are preponderant characteristics of epilepsy. Considering the lack of clinical studies, our aim is to investigate the extrinsic pathway of apoptosis in pharmacoresistant temporal lobe epilepsy (TLE) associated with hippocampal sclerosis (HS) patients, TLE(HS). By a specific death receptor-mediated apoptosis array plate, 31 upregulated targets were revealed in the sclerotic hippocampus from TLE(HS) patients.

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Mutations in the Bruton agammaglobulinemia tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). Unfolded or misfolded proteins can trigger stress pathways in the endoplasmic reticulum (ER), known as unfolded protein response (UPR). The aim was to clarify the involvement of UPR in XLA pathophysiology.

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Background: Previous research in animal seizure models indicates that the pleiotropic cytokine TNF is an important effector/mediator of neuroinflammation and cell death. Recently, it has been demonstrated that TNF downregulates Klotho (KL) through the nuclear factor kappa B (NFkB) system in animal models of chronic kidney disease and colitis. KL function in the brain is unclear, although Klotho knockout (Kl-/-) mice exhibit neural degeneration and a reduction of hippocampal synapses.

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