Explore the vast range of titles available.

Background Subacute sclerosing panencephalitis (SSPE) is a chronic progressive disease affecting the central nervous system (CNS) because of persistent measles virus (MeV) infection. The disease presents with a range of symptoms, starting with gradual cognitive and motor decline, progressing to coma, vegetative state, and typically resulting in death within 3–4 years of clinical onset. The incidence of SSPE is inversely related to vaccination coverage and its pathogenesis remains poorly understood. The primary risk factor is infection by the wild type of measles virus, particularly in individuals who may be predisposed to infection due to a lack of herd immunity or immunosuppressed states. Furthermore, the risk of developing SSPE increases with the younger age at which a person contracts measles. Case presentation We provide a description of the disease, characterizing its clinical course, diagnostic work-up and treatment options. We will also present a series of cases observed at the Santobono-Pausilipon Children’s Hospital, in Naples, Italy, highlighting both typical and atypical presentations, with a particular emphasis on the pharmacological and neurosurgical treatments for the condition. Conclusions The objective of this study is to raise awareness about the increasing prevalence of conditions following the SARS-Cov2 pandemic, with an emphasis on the importance of vaccination adherence as the only effective prevention method for SSPE.

The gene encodes the GluA3 subunit of AMPA-type glutamate receptors, which are crucial for excitatory neurotransmission in the central nervous system. Pathogenic variants cause X-linked neurodevelopmental disorders of varying severity, including developmental delay, behavioral abnormalities, and epilepsy. Here, we present the case of a seven-year-old female patient presenting with developmental delay, spastic gait, and non-convulsive status epilepticus (NCSE), who was found to carry a novel de novo missense variant (c.1969A > G; p.Thr657Ala). The EEG revealed high-amplitude diffuse rhythmic theta/delta activity consistent with NCSE. A brain MRI showed transient cortical and thalamic T2-FLAIR hyperintensities, likely postictal. Metabolic investigations were unremarkable. Following intensive treatment with levetiracetam and midazolam, the patient gradually recovered to her baseline neurological status. Whole-exome sequencing (WES) identified a novel de novo variant in , c.1969A > G; p.Thr657Ala, involving the replacement of threonine with alanine at position 657 within the coding region. This case expands the clinical and molecular spectrum of -related disorders, demonstrating that females with de novo variants may experience severe epilepsy. This is the first reported case of NCSE in a female patient with a variant.

Chronic heart failure (CHF) is associated with frequent hospitalizations, poor quality of life, and high healthcare costs. Despite therapeutic progress, early recognition of clinical deterioration remains difficult. The SMART-CARE study investigates whether artificial intelligence (AI)-enabled remote monitoring using CE-certified wearable devices can reduce hospital admissions and improve patient outcomes in CHF. SMART-CARE is a prospective, multicenter, observational cohort study enrolling 300 adult patients with CHF (HFrEF, HFmrEF, or HFpEF) across three Italian tertiary centers. Participants are assigned to an intervention group, using wrist-worn, chest-worn, and multiparametric CE-certified wearable devices for six months, or to a control group receiving standard CHF care. Physiological data (e.g., SpO₂, HRV, respiratory rate, skin temperature, sleep metrics) are continuously collected and analyzed in real time through AI algorithms to generate alerts for early clinical intervention. The primary endpoint is a ≥20% reduction in hospital admissions over six months. Secondary outcomes include changes in quality of life (Kansas City Cardiomyopathy Questionnaire), biomarkers (BNP, NT-proBNP, renal function, electrolytes), echocardiographic indices (LVEF, LV volumes), and safety events. We hypothesize that AI-driven remote monitoring will significantly reduce hospitalizations, improve quality of life, and favorably impact biochemical and echocardiographic parameters compared to standard care. SMART-CARE is designed to evaluate the clinical utility of multimodal wearable devices integrated with AI algorithms in CHF management. If successful, this approach may transform traditional care by enabling earlier detection of decompensation, optimizing resource utilization, and supporting the scalability of remote monitoring in chronic disease management. ClinicalTrials.gov, identifier NCT06909682.

SummaryProgressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system (CNS) caused by John Cunningham virus lytic infection of the oligodendrocytes, the myelin-producing cells in the CNS. Symptoms largely vary depending on location and size of the lesions, and the most frequent clinical presentation is characterized by motor deficits, altered consciousness, gait ataxia, and visual symptoms. Despite limb weakness or hemiparesis as the most frequent presenting symptom, involuntary movement is far less common, and very few cases are described in the literature with focal movement disorders without additional neurologic abnormalities. Here we described a case of PML in a patient treated for non-Hodgkin lymphoma with immunomodulatory chemotherapies who presented with bilateral myoclonus of the upper limbs. This report highlights the importance of considering PML in the differential diagnosis of focal movement disorders and discusses the potential causative mechanism of this atypical presentation.

Recurrent facial palsy is a rare event in the pediatric population, mostly idiopathic or associated with common comorbidities or, rarely, observed in syndromic conditions. However, some cases are difficult to explain and need more accurate diagnostic approaches. In this work, we describe a pediatric case of recurrent facial palsy secondary to hyperostosis of the skull and narrowing of the neural foramina related to a SOST-related sclerosing bone dysplasia. To our knowledge, this is the first Italian case that is also related to a novel loss-of-function variant in the SOST gene. We highlight the clinical relevance of a proper early diagnosis and the need for correct monitoring of the clinical evolution, considering the natural history of the disease, to prevent/reduce severe neurological complications.

BackgroundCerebrospinal fluid myelin oligodendrocyte glycoprotein IgG (CSF MOG-IgG) are found in a proportion of patients with MOG antibody-associated disorder (MOGAD) and have been associated with severe disease presentations. However, most studies did not systematically investigate the role of MOG-IgG intrathecal synthesis (ITS).MethodsWe retrospectively studied 960 consecutive patients with paired serum and CSF samples screened for MOG-IgG using a live cell-based assays. MOG-IgG-specific antibody index (AIMOG) was systematically calculated using serum and CSF titres to assess MOG-IgG ITS, and clinical features were compared between MOG-IgG CSF+/CSF− and ITS+/ITS− patients.ResultsMOG-IgG were found in 55/960 patients (5.7%; serum+/CSF−: 58.2%, serum+/CSF+: 34.5%; serum−/CSF+: 7.3%). Serum/CSF MOG-IgG titres showed a moderate correlation in patients without ITS (ρ=0.47 (CI 0.18 to 0.68), p<0.001), but not in those with ITS (ρ=0.14 (CI −0.46 to –0.65), p=0.65). There were no clinical–paraclinical differences between MOG-IgG CSF+ vs CSF− patients. Conversely, patients with MOG-IgG ITS showed pyramidal symptoms (73% vs 32%, p=0.03), spinal cord involvement (82% vs 39%, p=0.02) and severe outcome at follow-up (36% vs 5%, p=0.02) more frequently than those without MOG-IgG ITS. A multivariate logistic regression model indicated that MOG-IgG ITS was an independent predictor of a poor outcome (OR: 14.93 (CI 1.40 to 19.1); p=0.03). AIMOG correlated with Expanded Disability Status Scale (EDSS) scores at disease nadir and at last follow-up (p=0.02 and p=0.01).ConclusionsConsistently with physiopathology, MOG-IgG ITS is a promising prognostic factor in MOGAD, and its calculation could enhance the clinical relevance of CSF MOG-IgG testing, making a case for its introduction in clinical practice.

Background. Gender stereotypes and prejudices can influence the perception of competence in various medical specialties. Empathy plays a crucial role in enhancing the effectiveness of the doctor-patient relationship. This study aims to investigate the connection between empathic behavioral style and awareness of gender-related differences among medical students, specifically, those differences related to gender and their progression through preclinical and clinical years. Methods. An online survey was conducted, in which both the Jefferson Scale for Empathy (JSE), which assesses empathy in the context of health education and patient care, and the Nijmegen Gender Awareness in Medicine Scale (N-GAMS), which evaluates gender-related attitudes and assumptions, were administered. A total of 234 students (52.1% males; mean age: 22.68±2.48) from Medicine and Surgery courses at the University of Salerno (Italy) participated. Among them, 175 were in their third year (pre-clinical) and 59 were in their fifth year (clinical). Results. Analysis of the JSE scores revealed that male students scored higher (77.29±12.38) compared to female students (75.91±10.39). However, female students exhibited higher levels of perspective-taking (JSE factor 1: men = 51.26±11.84; women = 52.72±11.88). Additionally, third-year students demonstrated greater empathy compared to their fifth-year counterparts (JSE score: 3rd year = 77.35±11.46; 5th year = 74.49±11.33). Regarding gender sensitivity (GS), male students displayed higher sensitivity than female students (males = 2.67±0.68; females = 2.37±0.48). However, male students also demonstrated higher scores for gender stereotypes towards patients (GRIP: males = 2±0.88; females = 1.59±0.61) and doctors (GRID: males = 1.88±0.89; females = 1.64±0.63). Moreover, third-year students exhibited higher gender sensitivity (GS: 3rd year = 2.57±0.62; 5th year = 2.42±0.57), less bias towards patients (GRIP: 3rd year = 1.77±0.79; 5th year = 1.90±0.78), but more stereotypes and prejudices towards doctors (GRID: 3rd year = 1.77±0.81; 5th year = 1.75±0.74). Conclusions. It is crucial to prioritize and assess humanistic attitudes, including empathy, among medical trainees as an integral aspect of their ongoing education. This will help address gender awareness and challenge gender stereotypes, ultimately improving the doctor-patient relationship.

[Display omitted] •We report a novel missense mutation in the CAV3 gene.•The mutation is associated with hyperCKemia, myalgia in two Italian siblings with history of hypercholesterolemia.•We describe immuno-histopathological muscle findings related to this mutation.•A possible role of Caveolin-3 in lipid metabolism is discussed as an underlying mechanism of double-trouble condition. Caveolins are essential proteins in caveolae architecture, small plasma membrane invaginations that play a key role in a variety of cellular processes, including vesicular trafficking and signal transduction. Mutations in the gene encoding caveolin-3 (CAV3) cause a broad spectrum of clinical phenotypes, ranging from isolated hyperCKemia to most severe limb girdle muscular dystrophy and cardiomyopathy. We report a novel heterozygous p.Val44Met (c.130G > A) CAV3 mutation in two brothers presenting with persistent elevation of serum creatine kinase, myalgia and hypercholesterolemia. Immunofluorescence study with anticaveolin-3 antibodies on muscle biopsy of the proband confirmed a reduced immuno-reactivity of caveolin-3 on the sarcolemma. This findings support the pathogenic effect of this novel mutation and extend the genotypic and clinical spectrum of Caveolinopathies. Finally, we discuss the hypothesis that the association between CAV3 mutations and hypercholesterolemia may not be coincidental.

Purpose The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy. Methods The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form. We assessed age distribution, motor function, and the need for respiratory and nutritional support to evaluate their prevalence in different age and functional subgroups. Results The estimated prevalence was 1.65/100,000 (3.4/100,000 males). There were 972 boys and adults with a confirmed diagnosis of Duchenne, of age ranging between 6 months and 48 years (mean = 16.5). Over 59% were below the age of 18 years and the remaining 41% were adults. Over 43% were ambulant and 57% non-ambulant; 14.7% were steroids naive (mean 20.6 years), 75% are currently on steroids (mean 14.6 years) with 604 on the daily regime, 126 intermittent. Nearly 73% did not require any ventilatory support, 16% had NIV ≤ 12 h, 9% > 12 h, and 1.4% had a tracheostomy. More than 82% did not require any nutritional support, 13% required food modification/semisolid and 4.4% had a G-tube. Conclusions : Our findings provide information to be used not only for epidemiological purposes but also for possible trial design to include older non-ambulant patients who until recently have been excluded and for whom clinical information is limited. What is Known • Duchenne muscular dystrophy is a progressive disorder associated with reduced survival. • As part of the disorder there is also a progressive loss of important milestones, including loss of ambulation, and increased need for respiratory and nutritional support. What is New • Our nationwide survey provides prevalence, age distribution, and functional status for Duchenne muscular dystrophyin Italy including both boys and adults. • Our findings can be used for epidemiological purposes and for possible trial design.

Background Autosomal-dominant spinocerebellar ataxia (ADCA) due to intronic GAA repeat expansion in FGF14 (SCA27B) is a recent, relatively common form of late-onset ataxia. Objective Here, we aimed to: (1) investigate the relative frequency of SCA27B in different clinically defined disease subgroups with late-onset ataxia collected among 16 tertiary Italian centers; (2) characterize phenotype and diagnostic findings of patients with SCA27B; (3) compare the Italian cohort with other cohorts reported in recent studies. Methods We screened 396 clinically diagnosed late-onset cerebellar ataxias of unknown cause, subdivided in sporadic cerebellar ataxia, ADCA, and multisystem atrophy cerebellar type. We identified 72 new genetically defined subjects with SCA27B. Then, we analyzed the clinical, neurophysiological, and imaging features of 64 symptomatic cases. Results In our cohort, the prevalence of SCA27B was 13.4% (53/396) with as high as 38.5% (22/57) in ADCA. The median age of onset of SCA27B patients was 62 years. All symptomatic individuals showed evidence of impaired balance and gait; cerebellar ocular motor signs were also frequent. Episodic manifestations at onset occurred in 31% of patients. Extrapyramidal features (17%) and cognitive impairment (25%) were also reported. Brain magnetic resonance imaging showed cerebellar atrophy in most cases (78%). Pseudo-longitudinal assessments indicated slow progression of ataxia and minimal functional impairment. Conclusion Patients with SCA27B in Italy present as an adult-onset, slowly progressive cerebellar ataxia with predominant axial involvement and frequent cerebellar ocular motor signs. The high consistency of clinical features in SCA27B cohorts in multiple populations paves the way toward large-scale, multicenter studies.