Is pre-operative electromyography a reliable tool in differentiating acute and chronic facial palsy? A preliminary evaluation in patients treated with triple innervation facial reanimation.

Electromyographic evaluation is a reliable tool for confirming facial palsy and assessing its severity. It allows differentiating facial paresis and paralysis, and further distinguishes acute palsies, still showing muscle fibrillations, from chronic cases. This article aims to show that EMG fibrillations might represent a better criterion to differentiate acute and chronic palsies than the standard 18-24 months' cut-off usually employed for classification and treatment purposes. We performed a cohort study using the eFACE tool for comparing triple innervation facial reanimation results in patients with EMG fibrillation treated <12 months, 12-18 months, and >18 months from paralysis onset. Patients showed a statistically significant post-operative improvement in all eFACE items, both in the whole sample and in the three groups. Only the deviation from the optimal score for the gentle eye closure item in group 2 didn't reach statistical significance (p = 0.173). The post-operative results were comparable in the three groups, as the Kruskal-Wallis test showed a difference only for the platysmal synkinesis item scores, which were significantly lower in group 3 (p = 0.025).

Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.

BACKGROUND: Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the transthyretin gene. In ATTRv amyloidosis, multisystem extracellular deposits of amyloid cause tissue and organ dysfunction. Patisiran is a small interfering RNA molecule drug that reduces circulating levels of mutant and wild-type TTR proteins. Prior to its regulatory approval, patisiran was available in Italy through a compassionate use programme (CUP). The aim of this study was to analyse the long-term outcomes of patients who entered into the CUP. METHODS: This was a multicentre, observational, retrospective study of patients with ATTRv amyloidosis treated with patisiran. The analysis included change from baseline to 12, 24, 36 and 48 months in familial amyloid polyneuropathy (FAP) stage, polyneuropathy disability (PND) class, neuropathy impairment score (NIS), modified body mass index (mBMI), Compound Autonomic Dysfunction Test (CADT), Karnofsky Performance Status (KPS) scale and Norfolk Quality of Life-Diabetic Neuropathy (QoL-DN) questionnaire. Safety data were also analysed. RESULTS: Forty patients from 11 Italian centres were enrolled: 23 in FAP 1 (6 in PND 1 and 17 in PND 2) and 17 in FAP 2 (8 in PND 3a and 9 in PND 3b) stage. In this population, the mean NIS at baseline was 71.4 (± 27.8); mBMI, 917.1 (± 207) kg/m2; KPS, 67.1 (± 14.0); Norfolk QoL-DN, 62.2 (± 25.2); and CADT, 13.2 (± 3.3). Statistical analysis showed few significant differences from baseline denoting disease stability. No new safety signals emerged. CONCLUSIONS: Patisiran largely stabilised disease in patients with ATTRv amyloidosis.