Diagnosis of hereditary ataxias: a real-world single center experience.

Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.

Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.

Length of hospital stay, delayed pneumonia diagnosis and post-discharge mortality. The Pneumonia in Italian Acute Care for Elderly units (PIACE)-SIGOT study.

Background: High-income countries are currently decreasing length of hospital stay (LOS), with the aim of improving resource utilization. Little is known about the contribution of LOS to short-term post-discharge mortality in older patients with pneumonia.

Aim: to identify factors independently associated with LOS and to determine whether LOS predicts 3-month post-discharge death in older patients hospitalized for pneumonia.

[Semaglutide in Chronic Kidney Disease: Great Enthusiasm. But How Does It Work?].

Chronic Kidney Disease (CKD) is a clinical condition characterized by the progressive loss of kidney function. 10% of the world's population is affected by this condition, which represents the fifth leading cause of death globally. Furthermore, CKD is associated with increased risk of fatal and non-fatal cardiovascular events, and progression to end-stage renal disease.

Semen Cryopreservation to Expand Male Fertility in Cancer Patients: Intracase Evaluation of Semen Quality.

To preserve male fertility after diagnosis of any kind of cancer, a prompt assessment of the semen quality and an appropriate semen cryopreservation must be performed before radio-chemotherapy starts. The present work aims to evaluate the semen parameters at diagnosis of different cancer patients before cryopreservation and after thawing. Testicular tumors and lymphomas are among the most common cancers in younger patients, and while chemotherapy significantly increases patients' survival, it can epigenetically alter the semen fluid, resulting in temporary or permanent infertility.

The Risk of Drug Interactions in Older Primary Care Patients after Hospital Discharge: The Role of Drug Reconciliation.

Introduction: Drug-drug interactions (DDIs) represent an important clinical problem, particularly in older patients, due to polytherapy, comorbidity, and physiological changes in pharmacodynamic and pharmacokinetic pathways. In this study, we investigated the association between drugs prescribed after discharge from the hospital or clinic and the risk of DDIs with drugs used daily by each patient.

Methods: We performed an observational, retrospective, multicenter study on the medical records of outpatients referred to general practitioners.

An In Vivo Electroencephalographic Analysis of the Effect of Riluzole against Limbic and Absence Seizure and Comparison with Glutamate Antagonists.

Background: Riluzole (RLZ) has demonstrated neuroprotective effects in several neurological disorders. These neuroprotective effects seem to be mainly due to its ability to inhibit the excitatory glutamatergic neurotransmission, acting on different targets located both at the presynaptic and postsynaptic levels.

Methods: In the present study, we evaluated the effects of Riluzole (RLZ) against limbic seizures, induced by AMPA, kainate, and NMDA receptor agonists in Sprague-Dawley rats, and in a well-validated genetic model of absence epilepsy, the WAG/Rij rat.

Safe and Effective Administration of Caplacizumab in COVID-19-Associated Thrombotic Thrombocytopenic Purpura.

Thrombotic thrombocytopenic purpura (TTP) is a potentially life-threatening, rare acute thrombotic microangiopathy (TMA), caused by a severe ADAMTS13 deficiency. As the COVID-19 pandemic rapidly spread around the globe, much data about the pathogenicity of this virus were published. Soon after the detection of the first cases of COVID-19, it was clear that there was a wide range of COVID coagulopathy manifestations, such as deep venous thrombosis, pulmonary thromboembolism, and thrombotic microangiopathies.

Molecular-Biology-Driven Frontline Treatment for Chronic Lymphocytic Leukemia: A Network Meta-Analysis of Randomized Clinical Trials.

The treatment of chronic lymphocytic leukemia (CLL) currently relies on the use of chemo-immunotherapy, Bruton's tyrosine kinase inhibitors, or BCL2 inhibitors alone or combined with an anti-CD20 monoclonal antibody. However, the availability of multiple choices for the first-line setting and a lack of direct head-to-head comparisons pose a challenge for treatment selection. To overcome these limitations, we performed a systematic review and a network meta-analysis on published randomized clinical trials performed in the first-line treatment setting of CLL.

Use of stroke scales in clinical practice: Current concepts.

With stroke being the leading global cause of disability in adults, the use of clinical rating scales in stroke patients is important not only for diagnostic and therapeutic purposes but also for prognostic and care implications. Scales that quantify neurological disability can be particularly useful for assessing and guiding decisions in acute management and rehabilitative treatment. We analyzed and discussed some of the main rating scales most used in stroke in clinical practice, which measure both acute neurological deficit and functional outcome in stroke.

Cerebral Vasoreactivity in a Fabry Disease Patient.

Background: Fabry disease (FD) is a rare X-linked multisystem lysosomal storage disease caused by partial or total deficiency of a-galactosidase A (GLA). A progressive involvement of the kidneys, heart, and brain arteries has been reported. Using the transcranial color-coded duplex Doppler (TCCD), we report the case of a Fabry disease (FD) patient with a reduction in the cerebrovascular reactivity of the basilar artery (BA).

Anaerobic bloodstream infections in Italy (ITANAEROBY): A 5-year retrospective nationwide survey.

Introduction: A lack of updated data on the burden and profile of anaerobic bloodstream infections (ABIs) exists. We assessed the incidence of ABIs and trends in antimicrobial resistance in anaerobes isolated from blood in Italy.

Material And Methods: We conducted a retrospective study on 17 Italian hospitals (2016-2020).

Mitochondrial Determinants of Anti-Cancer Drug-Induced Cardiotoxicity.

Mitochondria are key organelles for the maintenance of myocardial tissue homeostasis, playing a pivotal role in adenosine triphosphate (ATP) production, calcium signaling, redox homeostasis, and thermogenesis, as well as in the regulation of crucial pathways involved in cell survival. On this basis, it is not surprising that structural and functional impairments of mitochondria can lead to contractile dysfunction, and have been widely implicated in the onset of diverse cardiovascular diseases, including ischemic cardiomyopathy, heart failure, and stroke. Several studies support mitochondrial targets as major determinants of the cardiotoxic effects triggered by an increasing number of chemotherapeutic agents used for both solid and hematological tumors.

Contribution of clinical severity and geriatric risk factors in predicting short-term mortality of older hospitalized pneumonia patients: the Pneumonia in Italian Acute Care for Elderly units (PIACE) study.

Background: Clinical severity of pneumonia in older persons increases the risk for short-term mortality. Comprehensive geriatric assessment (CGA) may provide further insight in prognostic stratification.

Aims: To investigate whether CGA may improve prognostic stratification among older patients with pneumonia admitted to hospital.

Premorbid frailty predicts short- and long-term outcomes of reperfusion treatment in acute stroke.

Background: Frailty is the most important short- and long-term predictor of disability in the elderly and, thus, might influence the clinical outcome of acute treatment of stroke.

Objective: To evaluate whether frailty predicts short- and long-term all-cause mortality and neurological recovery in elderly patients who underwent reperfusion acute treatment of stroke.

Methods: The study included consecutive patients older than 65 years who underwent reperfusion treatment in a single stroke unit from 2015 to 2016.

Myotoxicity Induced by Antiepileptic Drugs: Could be a Rare but Serious Adverse Event?

Antiepileptic drugs (AEDs) are used in various pathologies such as including epilepsy, migraine, neuropathic pain, etc. They can improve symptoms but cause adverse events (ADRs). Case reports have reported that one rare but serious AED-induced adverse reaction that has appeared in case reports is myotoxicity from rhabdomyolysis.

Dissecting the Biological Relevance and Clinical Impact of lncRNA MIAT in Multiple Myeloma.

The biological impact of long non-coding RNAs (lncRNAs) in multiple myeloma (MM) is becoming an essential aspect of the investigation, which may contribute to understanding the disease's complex pathobiology, providing novel potential therapeutic targets. Herein, we investigated the expression pattern and the clinical relevance of the lncRNA MIAT in MM, taking advantage of the publicly available CoMMpass database. MIAT expression in MM is highly heterogeneous and significantly associated with specific molecular lesions frequently occurring in MM.

Transcriptomic Analysis in Multiple Myeloma and Primary Plasma Cell Leukemia with t(11;14) Reveals Different Expression Patterns with Biological Implications in Venetoclax Sensitivity.

Mechanisms underlying the pathophysiology of primary Plasma Cell Leukemia (pPCL) and intramedullary multiple myeloma (MM) need to be further elucidated, being potentially relevant for improving therapeutic approaches. In such a context, the MM and pPCL subgroups characterized by t(11;14) deserve a focused investigation, as the presence of the translocation is mainly associated with sensitivity to venetoclax. Herein, we investigated a proprietary cohort of MM and pPCL patients, focusing on the transcriptional signature of samples carrying t(11;14), whose incidence increases in pPCL in association with an unfavorable outcome.

FlowCT for the analysis of large immunophenotypic data sets and biomarker discovery in cancer immunology.

Large-scale immune monitoring is becoming routinely used in clinical trials to identify determinants of treatment responsiveness, particularly to immunotherapies. Flow cytometry remains one of the most versatile and high throughput approaches for single-cell analysis; however, manual interpretation of multidimensional data poses a challenge when attempting to capture full cellular diversity and provide reproducible results. We present FlowCT, a semi-automated workspace empowered to analyze large data sets.

Biomarkers in Unstable Carotid Plaque: Physiopathology and Prediction.

Aims: To study the role of cytokines and vascular inflammatory biomarkers in unstable carotid plaque.

Background: Clinical studies showed that not only the degree of stenosis but also the type of carotid plaque can be responsible for ipsilateral ischemic stroke.

Objective: The objective of this study is to suggest a role for vulnerable carotid atherosclerotic disease in the occurrence of ischemic stroke.

Isolated Tongue Angioedema after Alteplase Infusion in Acute Ischemic Stroke.

Background: Angioedema, like anaphylaxis, has been reported as a rare adverse event of alteplase infusion in acute ischemic stroke.

Objective: We report the case of a patient with acute ischemic stroke who, after treatment of alteplase, developed angioedema.

Methods: We report the case of an 81-year-old woman who presented to our observation with acute ischemic stroke.