Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients.

In this study, we characterize the natural course of metachromatic leukodystrophy (MLD), explore intra/inter group differences, and identify biomarkers to monitor disease progression. This is a longitudinal observational study. Genotype and characteristics at disease onset were recorded.

Radio Electric Asymmetric Conveyer Neurobiological Treatments in Non-Specific Neck Pain: A Retrospective Study.

Introduction: Non-specific neck pain (NSNP) is a rather common symptomatology, and various therapeutic approaches are aimed to treat it, in the field of manual therapy, physiotherapy and pharmacology.

Methods: This retrospective study analyzes 65 subjects treated for NSNP with a neurobiological stimulation administered by medical devices based on radio electric asymmetric conveyer (REAC) technology. Initially, a neuro stimulation treatment called neuro postural optimization (NPO) was administered to improve the coordination of muscle activity and reduce adaptive decompensations.

In vivo structural and functional assessment of optic nerve damage in neuromyelitis optica spectrum disorders and multiple sclerosis.

Early detection of neuromyelitis optica spectrum disorders (NMOSD), especially after optic neuritis, a presenting manifestation commonly observed also in multiple sclerosis (MS), is crucial for timely treatment and prognosis. Integrated visual pathway assessment with optical coherence tomography (OCT) and visual evoked potentials (VEP) may help in this task, showing in vivo different pathophysiological backgrounds. We evaluated combined VEP and OCT in a cross-sectional, single-centre study assessing 50 consecutive NMOSD patients, 57 MS patients and 52 healthy controls.

No evidence of disease activity is associated with reduced rate of axonal retinal atrophy in MS.

Objective: To explore, in a longitudinal study, the usefulness of optical coherence tomography (OCT) in monitoring people with multiple sclerosis (MS) by testing the association between retinal nerve fiber layer (RNFL) thinning and clinical and brain MRI criteria of no evidence of disease activity (NEDA).

Methods: OCT, visual evoked potentials (VEPs), and disability, using the Expanded Disability Status Scale (EDSS), were tested at baseline and after 2 years in 72 patients, 63 with routine yearly brain MRI.

Results: Longitudinal mean binocular RNFL thinning, in absence of optic neuritis during follow-up, was correlated with EDSS worsening, also controlling for baseline EDSS, RNFL, disease duration, and MS subtype (Spearman ρ -0.

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.

Adenosine Deaminase (ADA) deficiency is an autosomal recessive variant of severe combined immunodeficiency (SCID) caused by systemic accumulation of ADA substrates. Neurological and behavioral abnormalities observed in ADA-SCID patients surviving after stem cell transplantation or gene therapy represent an unresolved enigma in the field. We found significant neurological and cognitive alterations in untreated ADA-SCID patients as well as in two groups of patients after short- and long-term enzyme replacement therapy with PEG-ADA.

Optical coherence tomography and visual evoked potentials: which is more sensitive in multiple sclerosis?

Objective: To assess the sensitivity of optic coherence tomography (OCT) and visual evoked potentials (VEPs) to visual pathway abnormalities in multiple sclerosis (MS).

Methods: A total of 40 MS subjects, 28 with optic neuritis (ON) at least 3 months before (bilateral in 5), underwent assessment of visual acuity, Expanded Disability Status Scale (EDSS), OCT and VEPs, the latter quantified with a 0-4 conventional score.

Results: OCT and VEPs were abnormal in 36% and 56% respectively in all eyes (p=0.

Click-evoked otoacoustic emissions recorded from untreated congenital hypothyroid newborns.

Thyroid hormone plays an important role in hearing development. Both a genetic or non-genetic hypothyroidism is often associated with congenital hearing loss. The exact incidence of hearing impairment in untreated congenital hypothyroid (CH) patients is unknown.