Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review
Spinal muscular atrophy (SMA) frequently causes scoliosis (up to 90% of cases), due to weakened axial muscles impacting motor and respiratory function. While new SMA treatments improve motor function, their effect on scoliosis progression is unclear. This scoping review (2016-October 2024) analyzed literature from Pubmed, MEDLINE, EMBASE, and Scopus, focusing on studies of SMA, scoliosis, and treatment approaches. The aim of this work was to describe the clinical features and the possible therapeutic approaches of scoliosis in the "new population" of pharmacologically treated SMA patients. We included all types of SMA as well as all the approved disease modifying therapies (DMTs). The review found significant variability in scoliosis presentation and surgical intervention among different types of treated SMA patients. Early pharmacological treatment may slow scoliosis progression, particularly in Type II SMA. Interestingly, Type I SMA patients, who typically don't develop scoliosis due to severe hypotonia, showed an increased scoliosis onset. Larger studies are needed to fully evaluate the impact of different treatments on scoliosis progression in SMA, especially in Type I SMA patients, to establish updated standards of care.
Neuroradiological insights into primary progressive apraxia of speech: a case report
Frailty and hospital outcomes among patients with neurological disorders
Patients with neurological disorders, particularly those who are chronologically and biologically older, may display highly varied clinical courses and trajectories. The present study explored the association between frailty and hospital outcomes among patients with acute neurological presentations admitted to an Italian university hospital.
Mortality patterns in patients with type 2 diabetes mellitus and late-onset Alzheimer's disease in the United States: a retrospective analysis from 1999 to 2020
Late-onset AD refers to the occurrence of AD after the age of 65. It is the primary cause of late-onset dementia. Studies indicate that persons diagnosed with diabetes are more susceptible to late-onset AD. Diabetes manifests as insulin resistance, which can have significant effects on cognitive function and contribute to the development of AD.
Short neck as a cause of stroke? Bilateral vertebral artery dissection in a patient with Klippel-Feil Syndrome
Vertebral dissections are a recognized cause of stroke in young people. Its association with Klippel-Feil Syndrome (KFS) is unusual. We describe the case of a male with simultaneous bilateral vertebral artery dissection with SKF and review the related literature. A 30-year-old male, with no relevant medical history, was transferred to the hospital with code stroke due to dizziness, dysarthria and clumsiness of the right limbs of sudden onset. Eight days prior, he had experienced intense right-sided neck pain after making a sudden neck turn while playing football, which persisted over the days. Phenotypically, he had a noticeable short neck. A cranial CT scan showed an acute right cerebellar infarction and an AngioCT scan showed bilateral vertebral artery dissection. An MRI revealed vertebral artery wall signal hyperintensity, compatible with intramural hematoma. The findings were confirmed by arteriography. Fusion of the cervical vertebrae C2-C3 compatible with SKF was observed at the same level where both dissections were observed. The patient was discharged asymptomatic with antiplatelet treatment. He received single antiplatelet therapy with 100 mg aspirin, remaining stable without recurrences. A follow-up MR angiogram showed resolution of the lesions after 3 months. SKF is a rare malformation consisting of a triad of fusion of cervical vertebrae, short neck and low hairline implantation. Its association with stroke is scarce and there are few descriptions of cases, none with bilateral dissection.
Sex and age differences in sleep disorders: insights from a diverse cohort referred to a sleep center
Sleep health is influenced by sex, gender, and age, with various sleep disorders exhibiting different prevalence rates and clinical presentations among different demographic groups. This retrospective study investigated sex and age differences in a diverse cohort of patients referred to an Italian sleep center for comprehensive sleep evaluations over a four-year period. Medical records of 909 consecutive patients who underwent overnight video-polysomnography between January 2014 and December 2017 were reviewed. Socio-demographic, anthropometric, clinical, and sleep-related data were extracted and compared between male and female patients across different age groups. Our analyses revealed disparities in the access to sleep evaluations, socio-demographic characteristics and lifestyle habits between males and females across age groups. Comorbidities varied, with cardiovascular diseases more prevalent in males, while thyroid disorders, rheumatologic conditions, and psychiatric disorders more common in females. Female patients also reported higher rates of psychotropic medications use at admission. Males had higher rates of obstructive sleep apnea, while females, particularly in middle and older age groups, exhibited more insomnia disorder and restless legs syndrome. Notably, the co-occurrence of multiple sleep disorders was observed, particularly among older individuals and female patients. Our findings emphasize the importance of considering sex and age differences in diagnosing and managing sleep disorders. Tailored approaches are necessary to optimize sleep health and overall well-being, particularly in aging populations, where sleep disturbances often coexist with other chronic conditions. Further research is warranted to elucidate the complex interplay between sex, gender, and age to promote sleep equity and improve patient care.
Early and active treatment with fingolimod for pediatric onset multiple sclerosis: the experience of an Italian pediatric center over the past 3 years
Describing the experience with early and high efficacy disease modifying treatment with fingolimod of a single Pediatric Multiple Sclerosis Center.
Comparative efficacy of common rehabilitation treatments for patients with neuropathic pain after spinal cord injury: a systematic review and network meta-analysis
Neuropathic pain is a prevalent complication following spinal cord injury, imposing severe physical and psychological burdens on affected individuals. It often hinders complete physical and mental recovery. Despite numerous rehabilitation interventions being explored and implemented, the optimal treatment strategy for neuropathic pain post-spinal cord injury remains a subject of ongoing debate. To address this uncertainty, a comprehensive network meta-analysis is imperative. This analysis aims to compare the effectiveness of various rehabilitation interventions and guide clinical staff in selecting the most efficacious treatment to alleviate patients' physical and psychological distress.
Clinical and radiological activity after extended interval and standard interval dosing of ocrelizumab in multiple sclerosis: A systematic review and meta-analysis
Ocrelizumab is an anti-CD20 monoclonal antibody that is highly effective in reducing MS clinical and radiological activity. The standard dosing regimen consists of infusing 600 mg of ocrelizumab every six months. However, concerns about increasing risks of infection and lowered vaccine response, particularly during the COVID-19 pandemic, prompted clinicians to extend the dosing interval between ocrelizumab infusions for some patients. Several observational studies have compared the effects of extended-interval dosing (EID) and standardinterval dosing (SID) of ocrelizumab on MS relapse rate and MRI activity. METHOD: We performed a systematic review and meta-analysis of the current literature to summarize studies comparing ocrelizumab EID and SID on MS disease activity in patients with MS. Two independent reviewers searched PubMed, Scopus, EMBASE, Web of Science, and Google Scholar on the 1st of June 2024.
Association of gait recovery with intramuscular coherence of the Vastus medialis muscle during assisted gait in subacute stroke
We aimed to investigate the effect of descending neural drive during assisted gait training on gait recovery in non-ambulatory stroke patients and the effect of 1-month gait training on the descending neural drive.
CSF1R-related disorder: A clinical, imaging and genetic profile review
Colony-stimulating factor 1 receptor (CSF1R) -related disorder (CSF1R-RD) is a primary microgliopathy with a distinct clinical, imaging and genetic profile.
Diagnosing migraine in children and adolescence using ID migraine: results of an Italian multicenter validation
Since migraine is the most frequent neurological condition, an early diagnosis is important to limit the impact of the disease on the quality of life. Although migraine diagnosis is based on the International Classification of Headache Disorders 3rd edition (ICHD3) criteria, other briefer questionnaires have been developed, especially for screening purpose. While the three-item ID Migraine has proved useful for migraine diagnosis in adulthood, no validated tools are available for children and adolescents. The aim of this study is to validate ID Migraine also in pediatric patients.
Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data
(i) provide a snapshot from a large cohort of Italian patients with SMA on risdiplam in the real-world setting; (ii) identify any differences in the cohorts before and after commercial drug approval considering the different eligibility access criteria (iii) describe preliminary data on adherence to treatment and reasons for shifting from nusinersen to risdiplam.
Time-varying association between blood pressure and malignant brain edema after large hemispheric infarction: a prospective cohort study
To investigate the time-varying association between blood pressure (BP) and malignant brain edema (MBE) risk after large hemispheric infarction (LHI).
Systematic review of pharmacological treatment options for orthostatic tremor in prospective patient cohorts and randomized controlled trials
Orthostatic tremor is an infrequent movement disorder characterized by a high-frequency tremor manifesting primarily in the standing position. This condition can lead to relevant restrictions of mobility in everyday life and adversely affect the quality of life. The etiology has not been conclusively clarified. To date, there are few therapy studies of sufficient quality.
State of the art in EEG signal features of mindfulness-based treatments for chronic pain
A systematic review of electroencephalographic (EEG) correlates of Mindfulness- based treatment for chronic pain is presented. Recent technological advances have made EEG acquisition more accessible and also reliable. EEG monitoring before, during, and after treatment might support efficacy assessment and enable real- time adaptive intervention. The preliminary research extracted 131 papers from 6 scientific search engines. The application of the exclusion criteria led to the selection of 4 papers, indicating that the topic is still unexplored and further investigations are required. The collected papers exhibited great variability making challenging the comparison, nevertheless promising EEG correlates emerged. In particular, pain-related evoked potentials correlate with Mindfulness-Based treatment. EEG source analysis revealed the prevalent involvement of regions modulating emotional responses. In addition, higher baseline theta power was associated with greater improvement in depression when Mindfulness-based treatments are administered. This last result makes EEG also suitable for evaluating which patients can benefit most from mindfulness-based treatments.
Severe perampanel intoxication presenting with rapidly progressive dementia
Eponymous of migraine spectra of fortification: Vauban or Sanmicheli?
The most frequent type of aura preceding the migraine headache is the visual one. The visual perception of the migraineur can be variegated, the most common being a zig-zag pattern of luminous lines, the complete denomination of this phenomenon being "fortification spectra of Vauban". We investigated on original sources about the origin of this complex denomination and more in detail about the eponym and the priority on the construction of the Reinassance fortification. This kind of visual aura was compared to Reinassance fortifications by John Fothergill. (1712-1780). In 1870 Hubert Airy, reporting on his own attack of migraine with aura, compared the visual disturbance to a fortified town with its bastions of a colourful appearance. Moreover, realising the illusory nature of these images, he called them "fortification spectra". Later on, William Gowers (1845-1915), with reference to ".its projecting and reintrant angles bearing resemblance to the plan which the French engineer Vauban first described as the most effective for the defence of a fortress.", introduced the term "fortification of Vauban", that since then has been largely used. Historically, these kinds of fortifications were first developed in early sixteen century in Italy by Michele Sanmicheli (1484-1559), a Venetian military engineer, when medieval tall courtains and circular towers were substituted with low and thicker walls and polygonal bastions, to face the destroying power of the new mobile siege guns. Only later Sébastien Le Prestre De Vauban (1633-1707), at the service of Louis XIV, the Sun King, greatly contributed to the development of this branch of military engineering. With reference to the visual aura, the eponym "fortifications spectra of Vauban" should be substituted for that "of Sanmicheli".
Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis
Dopa-responsive dystonia (DRD) is a group of rare forms of genetically determined dystonia. Large improvements of symptoms can be seen with small doses of levodopa. As a treatable condition, it must be diagnosed and treated to improve the patients' functional outcome and quality of life.
Unveiling Gaps and Demographic Influences in Alzheimer's Therapy: A Data-Centric Study of FDA-Approved Late-Phase Clinical Trials
Alzheimer's disease is more prevalent in women than in men. In this study, the author examined the U.S. Food and Drug Administration (FDA) completed phase 4 clinical trials associated with Alzheimer's. The research aims to evaluate the women's participation-to-prevalence ratio (PPR) for Alzheimer's disease.
How far are we from bringing intensive care bundle for intracerebral hemorrhage into the real-world setting? A 5-year population based-study
Comprehensive care bundles including rapid blood pressure management, anticoagulation reversal, neurosurgical consultation, control of blood glucose and body temperature, can improve short- and medium-term outcomes in patients with intracerebral hemorrhage (ICH). This study assessed how the acute management of ICH practices evolved in a real-world setting over five years characterized by global changes in ICH care.