FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.

Background And Aims: Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.

Case Report: A Fatal Case of West Nile Virus Meningoencephalomyelitis in a Woman with Systemic Lupus Erythematosus Initially Misdiagnosed as SARS-CoV-2 Infection.

We present a fatal case of West Nile virus meningoencephalomyelitis initially misdiagnosed as COVID-19 in a 63-year-old Egyptian woman with a previous diagnosis of systemic lupus erythematosus. The patient's medical history and immunosuppressive therapy, as well as the COVID-19 pandemic, substantially broadened the differential diagnosis of her encephalitis.

Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions.

Objective: Single cases and small series of Guillain-Barré syndrome (GBS) have been reported during the SARS-CoV-2 outbreak worldwide. We evaluated incidence and clinical features of GBS in a cohort of patients from two regions of northern Italy with the highest number of patients with COVID-19.

Methods: GBS cases diagnosed in 12 referral hospitals from Lombardy and Veneto in March and April 2020 were retrospectively collected.

Respiratory dysfunction as first presentation of myasthenia gravis misdiagnosed as COVID-19.

Background: The outbreak of the coronavirus disease 2019 (COVID-19) has had profound impact on health care not only for its direct effects, but also because it deeply influenced the whole clinical practice and diagnostic pathways, particularly in the acute setting.

Case Report: We present the case of a patient with respiratory dysfunction due to myasthenia gravis (MG) initially misdiagnosed as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection due to ambiguity in the interpretation of radiological and microbiological findings during COVID-19 pandemic.

Discussion: Respiratory dysfunction as first clinical manifestation of myasthenia gravis is rare, but potentially very harmful.

Diagnosing herpes simplex-1 encephalitis at the time of COVID-19 pandemic.

Case Report: We describe the case of a 73-year-old woman who was diagnosed with herpes simplex virus-1 encephalitis during the COVID-19 pandemic. The diagnosis was somehow delayed because relatives were initially cautious in bringing the patient to the hospital and, here, the work-up focus was on coronavirusrelated aspects as the patient was initially reputed to be infected with COVID-19.

Conclusions: During the current viral outbreak, physicians should not neglect the possibility of other diseases that represent neurological emergencies and require immediate recognition and treatment.

Inspiratory Vocal Fry: Anatomical and Physiological Aspects, Application in Speech Therapy, Vocal Pedagogy and Singing. A Pilot study.

Objective: Inspiratory Vocal Fry (IVF) is the voice production during inspiration of a sound with vocal fry perceptual characteristics. The existing scientific literature shows a lack of studies on it. The aim of the study is to highlight anatomical and physiological characteristics of IVF, to assess its effects on spoken and singing voice, to confirm the potential usefulness in speech therapy and vocal pedagogy.

Acetyl-L-carnitine: from a biological curiosity to a drug for the peripheral nervous system and beyond.

Acetyl-L-carnitine (ALC) is a molecule derived from acetylation of carnitine in the mitochondria. Carnitine acetylation enables the function of CoA and facilitates elimination of oxidative products. Beyond this metabolic activity, ALC provides acetyl groups for acetylcholine synthesis, exerts a cholinergic effect and optimizes the balance of energy processes.

Botulinum neurotoxin-A does not spread to distant muscles after intragastric injection: A double-blind single-fiber electromyography study.

The purpose of this study was to perform a careful neurophysiological examination to identify subclinical signs of botulinum toxin spread distant to the injection site following intragastric injection for obesity treatment. Single-fiber electromyography of extensor digitorum communis and repetitive stimulation of abductor digiti minimi were performed before and 8 days after multiple intragastric injections of botulinum toxin A (Botox, 200 U per patient) or placebo. The study was performed in a randomized double-blind fashion.

Defective Fas-mediated T-cell apoptosis predicts acute onset CIDP.

Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) are immune-mediated neuropathies. GBS is characterized by acute onset and subsequent remission of symptoms, whereas CIDP displays slow progression over at least 2 months. However, a small proportion of CIDP patients display acute onset CIDP (a-CIDP) resembling that of GBS.

Horner's syndrome as a complication of thyroidectomy: report of a case.

We report a case of Horner's syndrome (HS) occurring as a complication after total thyroidectomy. Horner's syndrome is characterized by myosis, eyelid ptosis, enophthalmos, and lack of sweating, with vascular dilatation of the lateral part of the face, caused by damage of the cervical sympathetic chain. We found only 28 other reports of HS developing after thyroidectomy, and only seven of these patients recovered completely.

Botulinum toxin therapy: a tempting tool in the management of salivary secretory disorders.

Purpose: The aim of the study was to investigate the feasibility and effectiveness of botulinum toxin therapy in salivary secretory disorders.

Materials And Methods: We treated 24 patients with botulinum neurotoxin type A for drooling, salivary fistulas, sialoceles, recurrent parotitis, and Frey's syndrome; each parotid gland and submandibular gland received 25 to 60 and 10 to 40 mouse units, respectively, per session. All the patients other than those with Frey's syndrome underwent, for diagnostic purpose, color Doppler ultrasonography (Hitachi H 21; frequency, 7.

Overview on pathophysiology and newer approaches to treatment of peripheral neuropathies.

Peripheral neuropathies are extremely heterogeneous nosological entities. One of the most common symptoms is pain, the underlying mechanisms of which are numerous and complex. Inflammation, reparative processes, and anatomical and gene expression alterations lead to chronic pain, the persistence of which is sustained by peripheral and central sensitisation mechanisms.

Acetyl-l-carnitine in the treatment of painful antiretroviral toxic neuropathy in human immunodeficiency virus patients: an open label study.

Antiretroviral toxic neuropathy causes morbidity in human immunodeficiency virus (HIV) patients under dideoxynucleoside therapy, benefits only partially from medical therapy, and often leads to drug discontinuation. Proposed pathogeneses include a disorder of mitochondrial oxidative metabolism, eventually related to a reduction of mitochondrial DNA content, and interference with nerve growth factor activity. Carnitine is a substrate of energy production reactions in mitochondria and is involved in many anabolic reactions.

Fas-mediated T-cell apoptosis is impaired in patients with chronic inflammatory demyelinating polyneuropathy.

The Fas death receptor is expressed by activated lymphocytes and is involved in switching-off the immune response. Its inherited defects cause auto-immune lymphoproliferative syndrome. Impaired Fas function may also play a role in other auto-immune diseases, such as multiple sclerosis and type 1 diabetes mellitus.

Cutaneous silent period in human immunodeficiency virus-related peripheral neuropathy.

The aim of this work was first to determine whether the cutaneous silent period (CSP), a marker of small-nerve-fibre function, was altered in human immunodeficiency virus (HIV)-positive subjects with predominantly sensory symmetrical polyneuropathy and, second, to assess whether such alterations were predictive of an impairment in the largest calibre sensory and motor nerve fibres of the upper limb (UL) peripheral nerves. CSP was assessed in three groups of subjects: healthy control subjects, HIV-positive subjects with peripheral neuropathy (PN) of the lower limbs, and HIV-positive patients with clinical and neurophysiological involvement of the four limbs. CSP study showed a significant increase of the latency compared to the controls both in HIV-positive cases with no impairment in the UL (p=0.

Increased risk of developing peripheral neuropathy in patients coinfected with HIV-1 and HTLV-2.

One thousand one hundred fifty-two HIV-1-positive patients were screened for HTLV-2 infection, and the AIDS-free coinfected individuals were consecutively included in a longitudinal study with the aim of investigating the role of HTLV-2 in the progression to AIDS and the development of specific neurologic diseases. Two matched HIV-1-positive/HTLV-2-negative controls for each coinfected individual were also enrolled in the study. HTLV-2 infection was found in 95 (8.