Exploring neuropathic symptoms in a large cohort of Italian patients with different peripheral nervous system diseases.

Neuropathic pain is a disabling symptom frequently reported by patients with neuropathies. Pain-questionnaires are the best way to investigate it. Neuropathic Pain Symptom Inventory (NPSI) questionnaire specifically assesses the different symptoms of neuropathic pain. The objective of this study was to evaluate, through the NPSI, the different neuropathic painful symptoms in a population of neuropathic patients. 277 patients with different neuropathies were evaluated with the NPSI to investigate the prevalence of the different neuropathic symptoms. Neuropathic pain was reported by 94.4% of the patients, resulting to be common not only in diabetic and iatrogenic neuropathies, but also in hereditary, paraproteinemic, and idiopathic neuropathies. The majority of our patients (88.6%) presented paresthesia/dysesthesia. The results of our study point out the difference in the occurrence of the painful symptoms. A scale able to discriminate distinct types of neuropathic pain may provide clinicians with adequate therapeutic choices in the daily practice

Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2.

The early growth response element 2 gene (EGR2) codes a transcription factor crucial for myelination.1EGR2 mutations cause demyelinating Charcot\u2013Marie\u2013Tooth disease type 1D (CMT1D), Dejerine\u2013Sottas disease (DSD), and congenital hypomyelinating neuropathy (CHN).2\u20135 EGR2 accounts for a minority of CMT cases. Most have early onset and severe phenotypes6 and are occasionally associated with cranial nerve involvement.7 We report a young woman with apparently sporadic adult-onset CMT1D caused by an EGR2 Arg381Cys mutation

The relationships between physical violence, verbal abuse and women's psychological distress during the postpartum period

Objective. To analyse the relationship between violence in the post-partum period and mothers' psychological distress. Method. Three hundred and fifty two women responded to a questionnaire after the birth, at the Trieste Hospital (Italy), and 292 of them responded to a telephone interview 8 months later. Psychological distress was evaluated with the General Health Questionnaire (GHQ); partner and family violence were evaluated with a 28-item scale. Results. Eight months post-partum, 10% of women were experiencing violence either from the partner or from another family member; 5% showed high psychological distress. Multivariate analyses show that, after adjustment for covariates, the OR for depressive symptoms was 19.17 for women experiencing partner or family violence. Being dissatisfied with their working situation, hospitalisation of the baby and pre-pregnancy mental health were also significantly associated with high GHQ scores Conclusion. These results stress the relationship between violence in post-partum and maternal psychological distress. Measures aimed to identify and end violence against women around pregnancy could contribute to the improvement of women's mental health post-partum

Unexpected nerve neuroimaging findings in Friedreich's ataxia

Friedreich’s ataxia (FRDA) is the most common autosomic recessive ataxia, caused by homozygous expansion of guanine–adenine–adenine (GAA) trinucleotide repeat in the frataxin gene leading to decreased expression of mitochondrial protein frataxin. The major neurological features are ataxia, dysarthria, areflexia, but sensory axonal neuropathy does also occur. Systemic symptoms (cardiomyopathy, scoliosis, diabetes mellitus) often coexist. Neurological phenotype is due to the involvement of dorsal root ganglia, sensory peripheral nerves, corticospinal tracts and dentate nuclei. Neurophysiological studies show severe reduction of sensory nerves action potential amplitude with preservation of nerve conduction velocities, consistent with sensory axonal damage. The neurophysiological abnormalities correlate with the size of GAA repeat expansion and with neuropathological findings (Santoro et al., 1999). Symptoms due to ataxia usually exceed those from sensory axonal neuropathy that are likely underestimated and contribute to patients’ disability. Nerve ultrasound (US) is an emerging technique that allows to visualize nerve size and echotexture (Goedee et al., 2013). In demyelinating neuropathies nerve enlargement – measured through cross-sectional area (CSA) – is common (Padua et al., 2014) while this is rarely found in axonal neuropathies (Goedee et al., 2013). We report on unexpected nerve neuroimaging findings in a FRDA patient

Ultrasonographic tinel sign: Comment.

e read with great interest the article by Chipman and colleagues concerning the ultrasonographic Tinel sign. Herein we comment on their study and share some of our experience in this area

Syringomyelia associated with Chiari I malformation

An 18-year-old man with progressive paraparesis, thermal hypoesthesia, sweating abnormalities, bladder dysfunction, severe orthostatic hypotension, bilateral Babinski sign, underwent a brain MRI scan that showed downward displacement of cerebellar tonsils through the foramen magnum, consistent with Chiari I malformation, compression of the brainstem-spinal cord junction, and C1-D11 syringomyelia (6.5 mm diameter at C2 level) consistent with Chiari I syndrome. Suboccipital craniectomy and duraplasty were performed. A C2 partial laminectomy and ablation of posterior arch of the atlas was performed. MRI scans 4 days and 1 month after surgery showed a dramatic syringomyelia reabsorption (2.5 and 1 mm, respectively) associated with complete clinical recovery