Publications by authors named "Patrizi A"

The genomic, genetic and cellular events regulating the onset, growth and survival of rare, choroid plexus neoplasms remain poorly understood. Here, we examine the heterogeneity of human choroid plexus tumors by single-nucleus transcriptome analysis of 23,906 cells from four disease-free choroid plexus and eleven choroid plexus tumors. The resulting expression atlas profiles cellular and transcriptional diversity, copy number alterations, and cell-cell interaction networks in normal and cancerous choroid plexus.

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Centrosomes are the major microtubule organizing centers of animal cells. Supernumerary centrosomes are a common feature of human tumors and associated with karyotype abnormalities and aggressive disease, but whether they are cause or consequence of cancer remains controversial. Here, we analyzed the consequences of centrosome amplification by generating transgenic mice in which centrosome numbers can be increased by overexpression of the structural centrosome protein STIL.

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Background: Choroid plexus (ChP) is the secretory epithelial structure located in brain ventricles. Choroid plexus tumors (CPTs) are rare neoplasms predominantly occurring in young patients with intensified malignancy in children. CPT treatment is hindered by insufficient knowledge of the tumor pathology and limited availability of valid models.

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Human development relies on the correct replication, maintenance and segregation of our genetic blueprints. How these processes are monitored across embryonic lineages, and why genomic mosaicism varies during development remain unknown. Using pluripotent stem cells, we identify that several patterning signals-including WNT, BMP, and FGF-converge into the modulation of DNA replication stress and damage during S-phase, which in turn controls chromosome segregation fidelity in mitosis.

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Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons. While classically characterized by deficits in sensory and autonomic neurons, neuronal defects in the central nervous system have also been described. Although ELP1 expression remains high in the normal developing and adult cerebellum, its role in cerebellar development is unknown.

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Article Synopsis
  • - Herpes zoster (HZ) occurs when the varicella-zoster virus (VZV), which causes chickenpox, reactivates due to weakened immune systems, particularly in the elderly or those with immune deficiencies.
  • - About 1 in 3 people will experience HZ in their lifetime, and 30% of these individuals may develop post-herpetic neuralgia, a painful complication following the skin rash.
  • - The text discusses the risk of HZ and post-herpetic neuralgia in patients with various dermatological conditions and outlines vaccination options and recommendations for preventing HZ in these high-risk groups.
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The European Choroid plexus Scientific Forum (ECSF), held in Heidelberg, Germany between the 7th and 9th of November 2023, involved 21 speakers from eight countries. ECSF focused on discussing cutting-edge fundamental and medical research related to the development and functions of the choroid plexus and its implications for health, aging, and disease, including choroid plexus tumors. In addition to new findings in this expanding field, innovative approaches, animal models and 3D in vitro models were showcased to encourage further investigation into choroid plexus and cerebrospinal fluid roles.

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Objectives: To evaluate clinical, clinician- and patient-reported outcomes (PROs) of two adjacent single posterior implants immediately loaded with definitive single crowns up to 1 year. Ten patients in need of two adjacent posterior single implants were included. All implants were placed applying a fully digital workflow.

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Article Synopsis
  • * Researchers used a combination of advanced techniques, including CRISPR and phosphoproteomics, to study how neuroligin-3 localizes to different types of synapses in mouse and human brains.
  • * Findings revealed that neuroligin-3 is region-specific, mainly found in excitatory synapses in the cortex and inhibitory synapses in subcortical areas, with its localization regulated by phosphorylation, affecting its interactions with other synaptic proteins.
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Background: Xerosis negatively impacts the quality of life (QoL) for older adults by producing pruritus (itching), burning or stinging, and an uncomfortable sensation of tightness in the skin. Furthermore, chronic illness and pharmacological therapies could worsen skin health. Severe xerosis can also result in redness or cracking of the skin.

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Choroid plexuses (ChPs) produce cerebrospinal fluid and sense non-cell-autonomous stimuli to control the homeostasis of the central nervous system. They are mainly composed of epithelial multiciliated cells, whose development and function are still controversial. We have thus characterized the stepwise order of mammalian ChP epithelia cilia formation using a combination of super-resolution-microscopy approaches and mouse genetics.

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Background: Atopic dermatitis (AD) is a common inflammatory skin disease that affects both children and adults. However, limited research has been conducted on gender differences in AD.

Objectives: This study aimed to assess gender differences in adult AD patients, focusing on demographic and clinical features, comorbidities and treatment approaches.

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This article discusses the treatment of tooth structure loss due to erosion using indirect lithium disilicate ceramic restorations. Minimally invasive approaches, in which the eroded teeth are conservatively prepared and restored with minimally invasive restorations, are recommended. Lithium disilicate ceramics are currently the material of choice for this type of treatment as they can withstand maximum occlusal forces in the posterior region.

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Introduction: The diagnostic delay in nail melanoma (NM) has been repeatedly emphasized. It may be related to both clinical misinterpretations and to errors in the bioptic procedure.

Objectives: To assess the efficacy of histopathologic examination in different diagnostic biopsies in NM.

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Article Synopsis
  • The study investigates the dermatological manifestations of COVID-19 in children, particularly noting the prevalence of chilblain-like lesions among infected and non-infected patients, attributed to a pronounced interferon response in younger individuals.
  • Conducted over six months, the research involved 137 patients aged 1 to 18 from 23 Italian dermatological units, who exhibited a variety of skin lesions primarily on the feet.
  • Results showed diverse skin symptoms, with many experiencing concomitant systemic symptoms, highlighting the complex interplay of dermatological and respiratory issues related to COVID-19 in children.
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Background: Choroid plexuses (ChPs) are intraventricular structures mainly composed by specialized epithelial cells interconnected by tight junctions that establish the blood-cerebrospinal fluid (CSF) barrier. ChPs are essential to produce CSF and transport solutes from and into the brain. Deterioration of ChP function and morphology has been correlated to worsening of neurodegenerative disorders.

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Introduction: Eruptive cutaneous squamous cell carcinomas (ESCC), eruptive squamous atypia (ESA) and eruptive keratoacanthomas (EKA) are different terms used to describe the occurrence of multiple cutaneous squamous neoplasms after skin surgery, laser treatment, traumas, such as tattoos, and local or systemic medical treatments. ESCC have been reported to arise at the sites of skin surgery, including the area affected by the primary tumor and split thickness skin graft (STSG) donor and recipient sites.

Objectives: The aim of this study is to report 2 additional cases of ESCC after skin surgery and make a critical revision of the literature, analyzing the clinical, histological features and outcomes of ESCC after cutaneous surgery.

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Atopic dermatitis (AD) is a common inflammatory skin disease often associated with a significant impairment in the quality of life of affected patients. The Italian Society of Dermatology and Venereology (SIDeMaST) planned a national information campaign, providing direct access to 27 dermatologic centers dedicated to the management of AD. The aim of this study aimed was to outline critical aspects related to AD in the general population.

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Intravenous drug users (IVDUs) represent a very small group of patients affected by chronic wounds (CWs). To assess the risk factors for CWs in IVDUs, to improve their treatment. A retrospective review of 7 IVDUs with CWs was performed at the Dermatology of the University of Bologna.

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Background: Cutaneous malignant melanoma (CMM) accounts for the highest mortality rate among all skin cancers. Traditional histopathologic diagnosis may be limited by the pathologists' subjectivity. Second-opinion strategies and multidisciplinary consultations are usually performed to overcome this issue.

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