Do patients' and referral centers' characteristics influence multiple sclerosis phenotypes? Results from the Italian multiple sclerosis and related disorders register.

Background: Multiple sclerosis (MS) is characterized by phenotypical heterogeneity, partly resulting from demographic and environmental risk factors. Socio-economic factors and the characteristics of local MS facilities might also play a part.

Methods: This study included patients with a confirmed MS diagnosis enrolled in the Italian MS and Related Disorders Register in 2000-2021.

Gut-oriented interventions in patients with multiple sclerosis: fact or fiction?

Objective: Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating, disimmune disease of the central nervous system whose etiology and pathogenesis remain poorly understood, due to its complex and multifactorial nature. Evidence of a bidirectional connection linking the gut microbiome with the intestinal barrier and the immune system (the gut-brain axis) may have implications for the pathogenesis of inflammatory demyelinating diseases such as MS. This narrative review summarizes the evidence for the gut-brain axis involvement in the pathogenesis of MS and examines the role of gut-oriented interventions in MS.

Appropriateness, safety, and effectiveness of "drip and ship" teleconsultation model in Southeastern Tuscany: a feasibility study.

Purpose: Teleconsultation is a consultation between two or more physicians about the diagnostic work-up and therapeutic strategy in the treatment of an individual case by means of modern telematics. 'Drip-and-ship' teleconsultation model consists of the transfer of patients, through telematics stroke networks, with large arteries occlusions from primary to comprehensive stroke centers equipped for endovascular therapy. We retrospectively investigated appropriateness, safety, and effectiveness of 'drip-and-ship' teleconsultation model in a rural area of Tuscany.

Listening to the neurological teams for multiple sclerosis: the SMART project.

Objective: Aim of the research was to define the quality of life of Italian neurologists and nurses' professional caring for multiple sclerosis, to understand their living the clinical practice and identify possible signals of compassion fatigue.

Material And Methods: One hundred five neurologists and nurses from 30 Italian multiple sclerosis centres were involved in an online quali-quantitative survey on the organization of care, combined with the Satisfaction and Compassion Fatigue Test and a collection of narratives. Descriptive statistics of the quantitative data were integrated with the results obtained by the narrative medicine methods of analysis.

A method to compare prospective and historical cohorts to evaluate drug effects. Application to the analysis of early treatment effectiveness of intramuscular interferon-β1a in multiple sclerosis patients.

Background: Disease modifying therapy have changed the natural evolution of multiple sclerosis (MS), with efficacy demonstrated in randomized clinical trials. Standard-of-care effectiveness is needed to complement clinical trial data and highlight outcomes in real-world practice, but comparing prospective patients with historical cohorts likely introduces biases. To address these potential biases, assigning a patient with a score that expresses his/her disease prognosis before starting a therapy may make it possible to evaluate the unbiased ability of the therapy to modify disease natural history.

Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism: A case report.

Rationale: The mechanisms of action of MTX (methotrexate) in the treatment of RA (rheumatoid arthritis) and PsA (psoriatic arthritis) is related to its antifolic activity, due to the high affinity for enzymes that require folate cofactors as dihydrofolate reductase and to the anti-inflammatory activity derivated from the inhibition of thymidylate synthetase that leads to the over-production of adenosine.

Patient Concerns: Our patient was a 41-year-old female, affected by PsA in treatment since 2 years with low-dose methylprednisolone and low-dose subcutaneous MTX. The treatment was effective.

A 12-month prospective, observational study evaluating the impact of disease-modifying treatment on emotional burden in recently-diagnosed multiple sclerosis patients: The POSIDONIA study.

Introduction: Depression and anxiety are common among patients with multiple sclerosis (MS) and are frequently present at the time of MS diagnosis.

Methods: POSIDONIA was a 12-month, observational, prospective study conducted in Italy to evaluate the impact of disease-modifying treatment (DMT) on emotional burden in patients with recently-diagnosed MS. The Hospital Anxiety and Depression Scale (HADS), specifically HADS anxiety (HADS-A) and depression (HADS-D) subscale scores, the Short-Form 36 Health Survey (SF-36) and the Impact of Event Scale - Revised (IES-R) were used to measure patient-reported outcomes.

Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy.

Objective: To assess, by using quantitative MRI metrics, structural and metabolic brain abnormalities in subjects with preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

Background: Brain MRI abnormalities have been occasionally reported in preclinical CADASIL subjects. However, very little is known as to when the brain tissue damage starts to accumulate, what brain regions are primarily involved and whether the brain damage is significant in subjects who have no overt clinical manifestations of the disease.

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.

Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21-23. Mutations of the alpha-1A subunit of the voltage gated calcium channel (CACNA1A) are responsible for FHM1.

Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study.

Autosomal dominant chronic progressive external ophthalmoplegia (AdPEO) is a muscle mitochondrial disorder due to multiple large scale rearrangements of the mitochondrial DNA. This disorder is probably due to a nuclear defect which causes genetic instability or an impairment in the replication of mitochondrial DNA. X-linked ichthyosis (XLI) is a skin disorder caused by a deletion in the steroid-sulphatase gene.

Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum.

Premature atherosclerosis and cardiac complications have been reported among the systemic manifestations of cerebrotendinous xanthomatosis (CTX), a rare bile acid disorder with predominantly neurological features. In some cases, myocardial infarction has been the cause of sudden death. We examined nine CTX patients to determine whether they also had clinical or subclinical signs of cardiovascular disorders.

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

The main mutation in fragile X patients is the expansion of the CGG repeat in the first exon of the FMR1 gene, associated with hypermethylation of the proximal CpG island. An increasing number of atypical cases have been reported showing the coexistence of full mutation and premutated or normal-sized alleles. These genotypes are more difficult to detect, and if a PCR strategy alone is adopted, they can be incorrectly identified.

Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?

Perineurial cell ensheathment of muscle fibers has been reported only in one patient. Here we describe a new case with identical morphologic features and a similar, but milder clinical course characterized by progressive muscle weakness and bilateral palpebral ptosis. EMG examination (including repetitive stimulation) and antibodies against acetylcholine receptors were normal.

A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case.

Myasthenia gravis and mitochondrial myopathy may present with similar clinical symptoms as inconstant palpebral ptosis, ophthalmoparesis, and muscle weakness. A few case initially diagnosed as myasthenia gravis by a positive decremental response on EMG and successful anticholinesterase therapy revealed to be affected by mitochondrial disease. We report a new case initially found to be affected by myasthenia gravis in whom muscle biopsy, performed because of symptom worsening, disclosed a mitochondrial myopathy.