To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA).
73 consecutive Italian patients underwent a full clinical protocol ...including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology.
Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed.
Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.
Abstract Spinal cord involvement associated with severe copper deficiency has been reported in the last 8 years. Copper deficiency may produce an ataxic myelopathy. Clinical and neuroimaging findings ...are similar to the subacute combined degeneration seen in patients with vitamin B12 deficiency. Macrocytic, normocytic and microcytic anemia, leukopenia and, in severe cases, pancytopenia are well known hematologic manifestations. The most patients with copper deficiency myelopathy had unrecognized carency. Some authors suggested that early recognition and copper supplementation may prevent neurologic deterioration but clinical findings do not improve. We present a patient with copper deficiency, dorsal root ganglions and cervical dorsal columns involvement. Clinical status and neuroimaging improved after copper replacement therapy. Sensory neurons of dorsal root ganglia may be the most sensitive nervous pathway. In this case the early copper treatment allowed to improve neurologic lesions and to prevent further involvements.
Abstract A 55-year-old woman complained of right scapular pain, like burning, radiating down his right arm and numbness in the first three fingers of the hand. Neurologic examination showed a slight ...deficit of the right brachial triceps muscle. Neurophysiological assessment showed a mild involvement of the seventh right spinal root (C7). Conventional MR imaging of the cervical spine showed mild disc protrusion at level C5–C6 without spinal root compression. High resolution MR neurography with multiplanar reconstruction along the course of the right brachial plexus showed a mild increase in signal intensity and thickening of the C7 root, middle trunk and posterior cord, consistent with Parsonage–Turner Syndrome. STIR images showed increased signal intensity in the right infraspinatus muscle innervated by the suprascapular nerve. In our case, sensitivity and specificity of the new MR sequences are higher than the clinical and neurophysiological evaluations.
Background and purpose
Many single cases and small series of Guillain–Barré syndrome (GBS) associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection were reported during ...the coronavirus disease 19 (COVID‐19) outbreak worldwide. However, the debate regarding the possible role of infection in causing GBS is still ongoing. This multicenter study aimed to evaluate epidemiological and clinical findings of GBS diagnosed during the COVID‐19 pandemic in northeastern Italy in order to further investigate the possible association between GBS and COVID‐19.
Methods
Guillain–Barré syndrome cases diagnosed in 14 referral hospitals from northern Italy between March 2020 and March 2021 were collected and divided into COVID‐19‐positive and COVID‐19‐negative. As a control population, GBS patients diagnosed in the same hospitals from January 2019 to February 2020 were considered.
Results
The estimated incidence of GBS in 2020 was 1.41 cases per 100,000 persons/year (95% confidence interval 1.18–1.68) versus 0.89 cases per 100,000 persons/year (95% confidence interval 0.71–1.11) in 2019. The cumulative incidence of GBS increased by 59% in the period March 2020–March 2021 and, most importantly, COVID‐19‐positive GBS patients represented about 50% of the total GBS cases with most of them occurring during the two first pandemic waves in spring and autumn 2020. COVID‐19‐negative GBS cases from March 2020 to March 2021 declined by 22% compared to February 2019–February 2020.
Conclusions
Other than showing an increase of GBS in northern Italy in the “COVID‐19 era” compared to the previous year, this study emphasizes how GBS cases related to COVID‐19 represent a significant part of the total, thus suggesting a relation between COVID‐19 and GBS.
By showing an increase of Guillain–Barré syndrome (GBS) cases during the first two pandemic waves of coronavirus disease 19 (COVID‐19) in northern Italy and emphasizing that COVID‐19‐positive GBS patients represent about 50% of the total GBS cases, this study supports a relation between COVID‐19 and GBS. Physicians should keep in mind GBS as a possible complication of COVID‐19 infection to make an early diagnosis and start an appropriate treatment.
Highlights ► The poor prognostic value of anti-MAG antibody tests for the course of anti-MAG polyneuropathy is confirmed. ► Rituximab treatment and re-treatment significantly reduces anti-MAG serum ...antibodies titers without neurophysiologic improvement. ► Rituximab improves only small fibers sensibility. However, polyneuropathy does not worsen during follow-up.
Chemotherapy‐induced peripheral neurotoxicity (CIPN) is a major side effect of several antineoplastic drugs. However, despite its clinical importance, there is no agreement as to the best way to ...assess the severity and changes in CIPN. We have previously demonstrated a correlation between the severity of CIPN, assessed using the Total Neuropathy Score (TNS) or its reduced versions, and several common toxicity scales. In this study, we investigated two series of patients (total number = 173) who were evaluated at baseline and during chemotherapy with the TNS (n= 122) or the TNSc (the TNS version based exclusively on the clinical evaluation of the patients, n= 51) and with the National Cancer Institute‐Common Toxicity Criteria (NCI‐CTC) 2.0, with the aim of comparing the sensitivity to the changes in CIPN severity. In both series, the TNS and the TNSc had a significant correlation with the NCI‐CTC in scoring the severity of CIPN, confirming the results of previous studies. Moreover, both the TNS and the TNSc showed a higher sensitivity to CIPN changes. We, therefore, propose the TNSc as a reliable method for assessing not only the severity but also the changes in CIPN.
Abstract Humoral immune mechanisms may have a role in the neurological complications of celiac disease (CD). We assessed 71 CD patients for neurologic manifestations and presence of serum antibodies ...to neural antigens. Sixteen patients (22.5%) were found to have neurological deficits including headache, depression, entrapment syndromes, peripheral neuropathy, and epilepsy. Antibody reactivity to neural antigens was detected in 30/71 (42.2%) patients. There was no clear correlation between anti-neural reactivity and neurologic dysfunction. Follow-up of 62 patients did not reveal change in electrophysiology or antibodies, regardless of diet. However, in 2 patients with neuropathy, symptoms improved or worsened depending on the diet.
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