Temporal implementation of a regional referral pathway in transthyretin cardiac amyloidosis: Emilia-Romagna experience.

Aims: Transthyretin cardiac amyloidosis (ATTR-CA) is a rare and progressive cardiomyopathy caused by amyloid fibril deposition in myocardial tissue. Diagnostic challenges have historically hampered timely detection. Recent advances in noninvasive diagnostic techniques have facilitated ATTR-CA diagnosis.

Successful Treatment with Patisiran in Amyloid Polyneuropathy Harboring His90Asn Mutation in the Gene.

Hereditary transthyretin amyloidosis (hATTR) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensory-motor nerves, heart, autonomic function, and other organs. There are over 130 mutations known in the gene. The His90Asn mutation has been previously reported in several reports, but its pathogenetic role is still debated.

Facial palsy during the COVID-19 pandemic.

Objective: To compare the incidence and clinical features of individuals presenting in emergency rooms (ER) with facial palsy during the Italian COVID-19 outbreak and in the same period of 2019.

Methods: We retrospectively reviewed the medical records for all accesses to the six ER in the province of Reggio Emilia, Italy, during the first phase of the COVID-19 pandemic (27 February-3 May 2020) to identify all cases of diagnosed facial palsy. Clinical information was retrieved for each patient and compared with that of facial palsy cases presenting in 2019.

Quantitative electromyography: Normative data in paraspinal muscles.

Background: Quantitative electromyography of paraspinal muscle is a valuable diagnostic tool, but normative data are lacking.

Methods: Needle electromyography (EMG) was obtained in 65 healthy subjects (49% men, 51% women) aged 21 to 82 years at C7, Th10, and L5 segments bilaterally. The incidence of spontaneous activity; motor unit potential (MUP) amplitudes, durations, and the incidence of polyphasic potentials; and the recruitment pattern at maximal voluntary contraction (MVC) were evaluated.

Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report.

Background: Acute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin. Pompe disease, or type II glycogen storage disease, is a serious and often fatal disorder, due to a pathological accumulation of glycogen caused by a defective activiy of acid α-glucosidase (acid maltase), a lysosomal enzyme involved in glycogen degradation. The prevalence of the disease is estimated between 1 in 40,000 to 1 in 300,000 subjects.

MRI correlates of Parkinson's disease progression: a voxel based morphometry study.

We investigated structural brain differences between a group of early-mild PD patients at different phases of the disease and healthy subjects using voxel-based morphometry (VBM). 20 mild PD patients compared to 15 healthy at baseline and after 2 years of follow-up. VBM is a fully automated technique, which allows the identification of regional differences in the gray matter enabling an objective analysis of the whole brain between groups of subjects.

Isolated paroxysmal dysarthria caused by a single demyelinating midbrain lesion.

Paroxysmal dysarthria is an unusual condition characterised by brief episodes of dysarthria with the sudden onset and frequent recurrence. It has been mainly reported in multiple sclerosis and an association with midbrain lesions has been claimed; however, most of the reported patients had multiple brain alterations so it was difficult to associate this symptom with a specific lesion site. We illustrate the cases of two patients with an isolated demyelinating midbrain lesion presenting paroxysmal dysarthria as the only symptom; both participants had oligoclonal bands in the cerebrospinal fluid and an unremarkable follow-up.