Publications by authors named "Anna Mazzeo"

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has put enormous pressure on healthcare systems worldwide. While the majority of severe cases present with respiratory failure, thrombosis or bleeding have also been reported at unusual sites. Major bleeding, particularly in patients treated with therapeutic anticoagulation, has been observed between the second and third week after the onset of SARS-CoV-2 infection.

View Article and Find Full Text PDF

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) often requires prolonged ongoing treatment to prevent worsening. The efficacy of rituximab in preventing worsening after the discontinuation of immunoglobulin therapy in CIDP patients was assessed. In this randomized, double-blind, placebo-controlled study, conducted at seven Italian hospitals, CIDP patients under immunoglobulin therapy were assigned to receive either rituximab (1g on days 1, 15, and 180±7) or placebo.

View Article and Find Full Text PDF
Article Synopsis
  • - ERCP (endoscopic retrograde cholangiopancreatography) is a crucial procedure for diagnosing and treating biliopancreatic disorders, utilizing a mix of endoscopy and radiology to address issues like bile duct stones and leaks.
  • - The procedure often requires anesthesia due to its discomfort, with options ranging from moderate sedation to general anesthesia, making the choice of anesthetic methods significant.
  • - A narrative review was conducted to evaluate current anesthetic medications used during elective ERCP, particularly focusing on new drugs like dexmedetomidine, amidst ongoing debates about sedation levels and airway management practices.
View Article and Find Full Text PDF

Lung-protective strategies using low Vt and moderate positive end-expiratory pressure (PEEP) are considered best practice in critical care, but interventional trials have never been conducted in patients with acute brain injuries because of concerns about carbon dioxide control and the effect of PEEP on cerebral hemodynamics. To test the hypothesis that ventilation with lower VT and higher PEEP compared to conventional ventilation would improve clinical outcomes in patients with acute brain injury. In this multicenter, open-label, controlled clinical trial, 190 adult patients with acute brain injury were assigned to receive either a lung-protective or a conventional ventilatory strategy.

View Article and Find Full Text PDF

Background And Purpose: This study was undertaken to compare the sensitivity and specificity of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) diagnostic criteria for multifocal motor neuropathy (MMN) with those of the American Association of Electrodiagnostic Medicine (AAEM).

Methods: Sensitivity and specificity of the two sets of criteria were retrospectively evaluated in 53 patients with MMN and 280 controls with axonal peripheral neuropathy, inflammatory demyelinating polyneuropathy, or amyotrophic lateral sclerosis. Comparison of the utility of nerve conduction studies with different numbers of nerves examined was also assessed.

View Article and Find Full Text PDF

Background: We aimed to investigate the clinical features of a large cohort of patients with myelin protein zero ()-related neuropathy, focusing on the five main mutation clusters across Italy.

Methods: We retrospectively gathered a minimal data set of clinical information in a series of patients with these frequent mutations recruited among Italian Charcot-Marie-Tooth (CMT) registry centres, including disease onset/severity (CMTES-CMT Examination Score), motor/sensory symptoms and use of orthotics/aids.

Results: We collected data from 186 patients: 60 had the p.

View Article and Find Full Text PDF

Background: Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the transthyretin gene. In ATTRv amyloidosis, multisystem extracellular deposits of amyloid cause tissue and organ dysfunction. Patisiran is a small interfering RNA molecule drug that reduces circulating levels of mutant and wild-type TTR proteins.

View Article and Find Full Text PDF

Background And Purpose: This study aimed to assess the diagnostic criteria, ancillary investigations and treatment response using real-life data in multifocal motor neuropathy (MMN) patients.

Methods: Clinical and laboratory data were collected from 110 patients enrolled in the Italian MMN database through a structured questionnaire. Twenty-six patients were excluded due to the unavailability of nerve conduction studies or the presence of clinical signs and symptoms and electrodiagnostic abnormalities inconsistent with the MMN diagnosis.

View Article and Find Full Text PDF
Article Synopsis
  • Transthyretin amyloidosis (ATTR amyloidosis) has two forms: wild-type (ATTRwt) and hereditary (ATTRv), with over 130 identified genetic variants affecting patient symptoms.
  • This analysis looked at four less common genetic variants (F64L, I68L, I107V, S77Y) in symptomatic patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) to better understand their demographic and clinical characteristics.
  • Findings revealed that most participants were older males, with distinct symptoms where F64L, I107V, and S77Y had more neurological issues, while I68L showed significant heart problems, highlighting the need for thorough patient evaluations across
View Article and Find Full Text PDF
Article Synopsis
  • The 2021 EAN/PNS guidelines provide detailed clinical criteria to diagnose various variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), despite the lack of research on their treatment impact.
  • In a study involving 369 patients from the Italian CIDP database, 66% were diagnosed with different CIDP variants using these new criteria, revealing a distribution of typical and atypical forms.
  • The findings indicate that patients with multifocal, distal, and sensory CIDP often experience milder symptoms and may respond differently to steroid treatments compared to those with other variants, underscoring the need for specific guidelines in managing CIDP.
View Article and Find Full Text PDF
Article Synopsis
  • Transthyretin amyloidosis (ATTR amyloidosis) is a serious, progressive disease caused by the buildup of transthyretin amyloid fibrils in the body's tissues and organs, and can be hereditary or wild-type.* -
  • The Transthyretin Amyloidosis Outcomes Survey (THAOS) is a major global study launched in 2007 that has tracked over 6,000 patients, including symptomatic patients and asymptomatic carriers, providing important data on the disease's characteristics.* -
  • The recent analysis from THAOS revealed that most symptomatic patients are male, with a shift toward more mixed phenotypes and less predominantly cardiac phenotypes, highlighting the disease's complexity and variability among
View Article and Find Full Text PDF
Article Synopsis
  • Shoe devices like shoe inserts, orthopaedic shoes, and ankle-foot orthoses (AFOs) are key for managing Charcot-Marie-Tooth disease (CMT), but detailed data on their usage and effectiveness is limited.
  • An online survey of 266 CMT patients showed that while 70% were prescribed orthoses, many abandoned their use due to complications—especially with AFOs, which had the highest rates of emotional distress and physical issues.
  • The findings suggest a need for better personalization and support in prescribing these devices to improve patient satisfaction and adherence.
View Article and Find Full Text PDF

Extracorporeal therapies (ET) are increasingly used in pediatric settings as adjuvant therapeutic strategies for overwhelming inflammatory conditions. Although these treatments seem to be effective for removing inflammatory mediators, their influence on antimicrobials pharmacokinetic should not be neglected. A prospective observational study of children admitted to the pediatric intensive care unit (PICU) with a diagnosis of sepsis/septic shock.

View Article and Find Full Text PDF

Background: Sleep abnormalities have been reported in Charcot-Marie-Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients' series.

Methods: Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls.

View Article and Find Full Text PDF

Atmaram bone (C2 axis vertebra) is usually handed over to the family of the deceased on the next day after cremation during the ''Asthi sanchaya '' commemoration. ''Asthi visarajan'' involves the practice of immersing the bones and ashes of the deceased in the Holy Ganges river as per Hindu beliefs. Atmaram bone, which usually does not burn during cremation, is handed over to the family of the departed (asthi sanchaya) after cremation which is then immersed in the holy Ganges river ( asthi visarajan).

View Article and Find Full Text PDF

Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is an adult-onset multisystemic disease, affecting the peripheral nerves, heart, gastrointestinal tract, eyes, and kidneys. Nowadays, several treatment options are available; thus, avoiding misdiagnosis is crucial to starting therapy in early disease stages. However, clinical diagnosis may be difficult, as the disease may present with unspecific symptoms and signs.

View Article and Find Full Text PDF

Background And Purpose: Data are reported from the Italian CMT Registry.

Methods: The Italian CMT Registry is a dual registry where the patient registers and chooses a reference center where the attending clinician collects a minimal dataset of information and administers the Charcot-Marie-Tooth (CMT) Examination/Neuropathy Score. Entered data are encrypted.

View Article and Find Full Text PDF

Missing aspects of the heritability of chronic neuropathic pain, as a complex adult-onset trait, may be hidden within rare variants with low effect on disease risk, unlikely to be resolved by a single-variant approach. To identify new risk genes, we performed a next-generation sequencing of 107 pain genes and collapsed the rare variants through gene-wise aggregation analysis. The optimal unified sequence kernel association test was applied to 169 patients with painful neuropathy, 223 patients with nociplastic pain (82 diagnosed with chronic widespread pain and 141 with fibromyalgia), and 216 healthy controls.

View Article and Find Full Text PDF

Background: To assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms.

Methods: The 2021 EAN/PNS clinical criteria for CIDP were applied to 329 patients fulfilling the electrodiagnostic (and in some cases also the supportive) criteria for the diagnosis of CIDP. Clinical characteristics were reviewed for each patient not strictly fulfilling the clinical criteria ('unclassifiable').

View Article and Find Full Text PDF
Article Synopsis
  • - The study aimed to assess the risks and safety of SARS-CoV-2 vaccination for patients with chronic inflammatory neuropathies, particularly looking at relapse rates before and after vaccination.
  • - Involved 336 patients, with 91% vaccinated; 5% experienced mild relapses post-vaccination, while no relapses occurred in unvaccinated patients, indicating a relative risk increase for those who did receive the vaccine.
  • - Overall, the vaccination didn’t strongly correlate with an increased relapse risk, although CIDP patients showed a slightly higher risk compared to the three months before getting vaccinated, with mild side effects being the main safety concerns.
View Article and Find Full Text PDF

Background: In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease'risk (penetrance), AO and initial features in ATTRv families to gain insights on the early disease presentation.

Methods: Genealogical information, AO and first disease manifestations were collected in ATTRv families, from Sweden, Italy (Sicily), Spain (Mallorca), France, Turkey, Brazil.

View Article and Find Full Text PDF

Introduction: Pain is a common symptom of hereditary transthyretin amyloidosis (ATTRv), however, its occurrence in late-onset ATTRv has not been investigated thoroughly. Our aim was to describe the pain experience and its impact on quality of life (QoL) in symptomatic patients and presymptomatic carriers harboring a transthyretin () gene mutation with a late-onset phenotype.

Materials And Methods: Study participants (aged ≥18 years) were consecutively recruited from four Italian centers.

View Article and Find Full Text PDF