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The Authors submitted 53 randomly selected patients affected by systemic lupus erythematosus (SLE) to neurologic evaluation to investigate the prevalence of neurologic manifestations, establish relationships to clinical and epidemiological findings and antinuclear antibodies and/or lupus anticoagulant (LAC), as well as to assess the usefulness of electroencephalogram (EEG), saccadic eye movements (SEM) analysis, brain computerized tomography (CT). Twenty-two patients (41.5%) had nervous system involvement on anamnestic and/or clinical examination: there were seizures in 5 patients, headache in 3, involuntary movements in 3, psychosis in 2 and cerebrovascular disorders in 9. The patients were subdivided into 2 groups, with neuro-SLE and without neuro-SLE, according to clinical and/or anamnestic evidence of nervous system involvement. There were no differences between the two groups of patients regarding disease duration, disease activity, presence of antinuclear antibodies and/or LAC. EEG and/or SEM and/or brain CT abnormalities were found in 38 cases, 18 of which had no clinical evidence of neuro-SLE. Instrumental evaluation can thus document subtle nervous dysfunction and offers the possibility of classification into: a) non-neuro-SLE; b) subclinical neuro-SLE; c) overt neuro-SLE.

Background Alzheimer's disease (AD) is one of the most common causes of dementia in old people. Neuronal deficits such as loss of memory, language and problem-solving are severely compromised in affected patients. The molecular features of AD are Aβ deposits in plaques or in oligomeric structures and neurofibrillary tau tangles in brain. However, the challenge is that Aβ is only one piece of the puzzle, and recent findings continue to support the hypothesis that their presence is not sufficient to predict decline along the AD outcome. In this regard, metabolomic-based techniques are acquiring a growing interest for either the early diagnosis of diseases or the therapy monitoring. Mass spectrometry is one the most common analytical platforms used for detection, quantification, and characterization of metabolic biomarkers. In the past years, both targeted and untargeted strategies have been applied to identify possible interesting compounds. Aim of review The overall goal of this review is to guide the reader through the most recent studies in which LC–MS-based metabolomics has been proposed as a powerful tool for the identification of new diagnostic biomarkers in AD. To this aim, herein studies spanning the period 2009–2020 have been reported. Advantages and disadvantages of targeted vs untargeted metabolomic approaches have been outlined and critically discussed.

This study aimed to verify whether brain abnormalities, previously described in patients with myotonic dystrophy type 1 (DM1) by magnetic resonance imaging (MRI), progressed over time and, if so, to characterize their progression. Thirteen DM1 patients, who had at least two MRI examinations, were retrospectively evaluated and included in the study. The mean duration (± standard deviation) of follow-up was 13.4 (±3.8) years, over a range of 7–20 years. White matter lesions (WMLs) were rated by semi-quantitative method, the signal intensity of white matter poster-superior to trigones (WMPST) by reference to standard images and brain atrophy by ventricular/brain ratio (VBR). At the end of MRI follow-up, the scores relative to lobar, temporal and periventricular WMLs, to WMPST signal intensity and to VBR were significantly increased compared to baseline, and MRI changes were more evident in some families than in others. No correlation was found between the MRI changes and age, onset, disease duration, muscular involvement, CTG repetition and follow-up duration. These results demonstrated that white matter involvement and brain atrophy were progressive in DM1 and suggested that progression rate varied from patient to patient, regardless of age, disease duration and genetic defect.

PURPOSE This case report presents the diagnosis and management of an adult patient with cyclic esotropia, a rare and poorly understood form of strabismus, that is characterized by alternating periods of manifest strabismus and orthotropia. Few cases of adult-onset cyclic strabismus have been reported. The etiology, pathogenesis, and treatment for this condition are reviewed. CASE REPORT A 37-year-old man with high unilateral myopia and anisometropic amblyopia in his left eye developed cyclic esotropia 2 months after a scleral buckle procedure for a retinal detachment. A 48-hour cycle that consisted of a 24-hour period of orthotropia followed by a 24-hour period of constant left esotropia was present. Magnetic resonance imaging, electromyography, electroencephalography, and ocular and orbital echography were unremarkable, as was a neurological assessment that included fatigue and edrophonium testing. The patient was successfully managed with muscle surgery. CONCLUSIONS The etiology and pathogenesis of adult-onset cyclic esotropia remain unknown. Cyclic esotropia should be considered in the differential diagnosis when an individual presents with a history of intermittent strabismus that is present some days and not others.

Proton magnetic resonance spectroscopy (1H-MRS) provides specific metabolic information not otherwise observable by any other imaging method. 1H-MRS of the brain at 3 T is a new tool in the modern neuroradiological armamentarium whose main advantages, with respect to the well-established and technologically advanced 1.5-T 1H-MRS, include a higher signal-to-noise ratio, with a consequent increase in spatial and temporal resolutions, and better spectral resolution. These advantages allow the acquisition of higher quality and more easily quantifiable spectra in smaller voxels and/or in shorter times, and increase the sensitivity in metabolite detection. However, these advantages may be hampered by intrinsic field-dependent technical issues, such as decreased T2 signal, chemical shift dispersion errors, J-modulation anomalies, increased magnetic susceptibility, eddy current artifacts, challenges in designing and obtaining appropriate radiofrequency coils, magnetic field instability and safety hazards. All these limitations have been tackled by manufacturers and researchers and have received one or more solutions. Furthermore, advanced 1H-MRS techniques, such as specific spectral editing, fast 1H-MRS imaging and diffusion tensor 1H-MRS imaging, have been successfully implemented at 3 T. However, easier and more robust implementations of these techniques are still needed before they can become more widely used and undertake most of the clinical and research 1H-MRS applications. © Springer-Verlag 2007.