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A 34-year-old white man developed acute rhabdomyolysis during the treatment of scleromyxedema with interferon alfa. If interferon alfa is to be used as a therapeutic option for scleromyxedema the possibility of rhabdomyolysis should be considered. To the best of our knowledge, this is the first case in which acute rhabdomyolysis was developed during the treatment of scleromyxedema with interferon alfa. [ABSTRACT FROM AUTHOR]

Background: Early diagnosis of cerebral venous sinus thrombosis (CVST) associated with reproductive health-related risk factors (RHRF) including pregnancy, puerperium, and oral contraceptive (OC) use can prevent severe neurological sequelae; thus, the symptoms must be documented in detail for each group., Methods: Out of 1144 patients with CVST, a total of 777 women were enrolled from a multicenter for the study of cerebral venous sinus thrombosis (VENOST). Demographic, biochemical, clinical, and radiological aspects were compared for 324 cases with RHRF and 453 cases without RHRF., Results: The mean age of the RHRF (-) group (43.2 ± 13 years) was significantly higher than of the RHRF (+) group (34 ± 9 years). A previous history of deep venous thrombosis (3%), isolated cavernous sinus involvement (1%), cranial neuropathy (13%), comorbid malignancy (7%), and its disability scores after 12 months (9%) were significantly higher in the RHRF (-) group. The RHRF (+) group consisted of 44% cases of puerperium, 33% cases of OC users and 23% of pregnant women. The mean age was found to be higher in OC users (38 ± 9 years). A previous history of deep venous thrombosis was slightly higher in the pregnancy subgroup (4%). Epileptic seizures were more common in the puerperium group (44%)., Conclusion: The results of our study indicate that the risk of CSVT increases parallel to age, OC use, and puerperium period. In addition, when considering the frequency of findings and symptoms, epileptic seizures in the puerperium subgroup of the RHRF (+) group and malignancies in the RHRF (-) group may accompany the CSVT. In daily practice, predicting these risks for the CSVT and early recognition of the symptoms will provide significant benefits to patients., Competing Interests: The authors declared that they have no conflicts of interest for this article., (Copyright © 2020 Derya Uluduz et al.)

Purpose: The aim of this study is to evaluate the presence and prognostic impact of early seizures in cerebral venous sinus thrombosis patients (CVST)., Method: VENOST is a retrospective and prospective national multicenter observational study. CVST patients with or without epileptic seizures (ES) were analyzed and compared in terms of demographic and imaging data, causative factors, clinical variables, and prognosis in a total of 1126 patients., Results: The mean age of the patients in the ES group was 39.73 ± 12.64 and 40.17 ± 14.02 years in the non-ES group (p > 0.05). Epileptic seizures were more common (76.6 %) in females (p < 0.001). Early ES occurred in 269 of 1126 patients (23.9 %). Epileptic seizures mainly presented in the acute phase (71.4 %) of the disease (p < 0.001). Majority of these (60.5 %) were in the first 24 h of the CVST. The most common neurological signs were focal neurologic deficits (29.9 %) and altered consciousness (31.4 %) in the ES group. Superior sagittal sinus (SSS) and cortical veins (CV) involvement were the most common sites of thrombosis and the mostly related etiology were found puerperium in seizure group (30.3 % vs 13.9 %). Patients with seizures had worse outcome in the first month of the disease (p < 0.001) but these did not have any influence thereafter., Conclusions: In this largest CVST cohort (VENOST) reported female sex, presence of focal neurological deficits and altered consciousness, thrombosis of the SSS and CVs, hemorrhagic infarction were risk factors for ES occurrence in patients with CVST., Competing Interests: Declaration of Competing Interest The authors have no conflict of interest to disclose., (Copyright © 2020. Published by Elsevier Ltd.)

Aim: Systemic lupus erythematosus (SLE) is an unusual risk factor for cerebral venous sinus thrombosis (CVST). As few CVST patients with SLE have been reported, little is known regarding its frequency as an underlying etiology, clinical characteristics, or long-term outcome. We evaluated a large cohort of CVST patients with SLE in a multicenter study of cerebral venous thrombosis, the VENOST study, and their clinical characteristics., Material and Method: Among the 1144 CVST patients in the VENOST cohort, patients diagnosed with SLE were studied. Their demographic and clinical characteristics, etiological risk factors, venous involvement status, and outcomes were recorded., Results: In total, 15 (1.31%) of 1144 CVST patients had SLE. The mean age of these patients was 39.9 ± 12.1 years and 13 (86.7%) were female. Presenting symptoms included headache (73.3%), visual field defects (40.0%), and altered consciousness (26.7%). The main sinuses involved were the transverse (60.0%), sagittal (40.0%), and sigmoid (20.0%) sinuses. Parenchymal involvement was not seen in 73.3% of the patients. On the modified Rankin scale, 92.9% of the patients scored 0-1 at the 1-month follow-up and 90.9% scored 0-1 at the 1-year follow-up., Conclusions: SLE was found in 1.31% of the CVST patients, most frequently in young women. Headache was the most common symptom and the CVST onset was chronic in the majority of cases. The patient outcomes were favorable. CVST should be suspected in SLE patients, even in those with isolated chronic headache symptoms with or without other neurological findings., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Objective: This study was performed to determine the rate of cerebral venous sinus thrombosis (CVST) among cases of Behçet's disease (BD) included in a multicentre study of cerebral venous sinus thrombosis (VENOST)., Methods: VENOST was a retrospective and prospective national multicentre observational study that included 1144 patients with CVST. The patients were classified according to aetiologic factors, time of CVST symptom onset, sinus involvement, treatment approach and prognosis., Results: BD was shown to be a causative factor of CVST in 108 (9.4%) of 1144 patients. The mean age of patients in the BD group was 35.27 years and 68.5% were men, whereas in the non-BD CVST group, the mean age was 40.57 years and 28.3% were men (P < 0.001). Among the aetiologic factors for patients aged 18-36 years, BD was predominant for men, and puerperium was predominant for women. The onset of symptoms in the BD group was consistent with the subacute form. The transverse sinuses were the most common sites of thrombosis, followed by the superior sagittal sinuses. The most common symptom was headache (96.2%), followed by visual field defects (38%)., Conclusions: BD was found in 9.4% of patients in our VENOST series. Patients with BD were younger and showed a male predominance. The functional outcome of CVST in patients with BD was good; only 12% of patients presenting with cranial nerve involvement and altered consciousness at the beginning had a poor outcome (modified Rankin Score ⩾2)., (© The Author(s) 2018. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Background: Prolongation of the peak and the end of T wave (Tp-e) has been reported to be associated with ventricular arrhythmias. Tp-e/QT ratio and Tp-e/QTc ratio are used as an index of ventricular arrhythmogenesis. An increased incidence of ventricular arrhythmias has been reported in patients with obstructive sleep apnea (OSA). The aim of this study was to assess ventricular repolarization in patients with OSA by using Tp-e interval, Tp-e/QT ratio, and Tp-e/QTc ratio., Methods: We have studied 72 patients who underwent overnight polysomnography (PSG) between the years 2010-2011 at our institution. Patients with moderate and severe OSA (23 patients; mean age: 45±10), according to the apnea-hypopnea index, constituted the study group. Patients with normal PSG (23 patients; mean age: 42±11) were used as the control group. In all patients, Tp-e interval, Tp-e/QT ratio, Tp-e/QTc ratio, as well as some other electrocardiogram intervals were measured. Independent samples t-tests were used for comparison of continuous and categorical variables and correlations were calculated by Spearman rank correlation., Results: Although QT and QTc intervals were not different between the groups, mean Tp-e interval (81.6±11.1 msn; 63.9±7.3 msn; respectively; P < 0.001), Tp-e/QT ratio (0.21±0.03; 0.17±0.02; respectively; P < 0.001), and Tp-e/QTc ratio (0.20±0.03; 0.16±0.02; respectively; P < 0.001) were prolonged in the study group compared to the control group. Correlation analysis showed a significant positive correlation between the presence of moderate and severe OSA and Tp-e interval (r = 0.72; P < 0.001), Tpe/QT ratio (r = 0.70; P < 0.001), and Tp-e/QTc ratio (r = 0.70; P < 0.001)., Conclusions: Tp-e interval, Tp-e/QT ratio, and Tp-e/QTc ratio are prolonged in patients with moderate and severe OSA patients. There is a positive correlation between the presence of OSA and Tp-e interval, Tp-e/QT ratio, and Tp-e/QTc ratio., (©2012, The Authors. Journal compilation ©2012 Wiley Periodicals, Inc.)

Background: McConnell recommended that patellar tape be kept on all day, until patients learn how to activate their vastus medialis obliquus (VMO) during an exercise program. This application may pose problems because prolonged taping may be inadvisable for some patients or even contraindicated owing to skin discomfort, irritation, or allergic reaction., Hypothesis: Wearing patellofemoral tape for a shorter duration during an exercise program would be just as beneficial as a prolonged taping application., Study Design: Prospective cohort., Methods: Twelve patients and 16 healthy people participated. Patients underwent short-period patellar taping plus an exercise program for 3 months. Numeric pain rating, muscle strength of the knee extensors, and electromyogram activity of the vastus lateralis and VMO were evaluated., Results: There were significant differences in electromyogram activity (P = .04) and knee extensor muscle strength (P = .03) between involved and uninvolved sides before treatment. After treatment, pain scores decreased, and there were no significant differences between involved and uninvolved sides in electromyogram activity (P = .68) and knee extensor strength (P = .62). Before treatment, mean VMO activation started significantly later than that of vastus lateralis, as compared with the matched healthy control group (P = .01). After treatment, these differences were nonsignificant (P = .08)., Conclusion: Short-period patellar taping plus an exercise program improves VMO and vastus lateralis activation., Clinical Relevance: A shorter period of taping for the exercise program may be as beneficial as a prolonged taping application.

Vitamin B12 deficiency causes haematological, gastrointestinal, psychiatric and neurological diseases. Subacute combined degeneration (SCD) of the spinal cord, characterised by degeneration of the lateral and posterior columns, is often found due to vitamin B12 deficiency. We report SCD occurring in a 57-year-old man who presented with a 2.5-month history of gradually progressing tingling in the fingers and toes and neck ache. Laboratory data revealed vitamin B12 deficiency and magnetic resonance (MR) imaging of the cervical spinal cord demonstrated abnormal hyperintense signal changes on T2-weighted imaging of the posterior columns. In our case, follow-up MR imaging findings correlated well with clinical outcome after treatment with vitamin B12 supplements. Neurological symptoms in vitamin B12 deficiency are frequent. Early spinal MR imaging assists in the early diagnosis and treatment of the disease.

Background: Hyperekplexia, also known as startle disease or stiff-person syndrome, is a neurological condition characterized by neonatal hypertonia and a highly exaggerated startle reflex. Genetic studies have linked mutations in the gene encoding glycine receptor alpha1 (GLRA1) with hereditary hyperekplexia., Methods: We analyzed four Turkish families with a history of hyperekplexia. Genomic DNA was obtained from members of these families, and the entire coding sequence of GLRA1 was amplified by PCR followed by the sequencing of PCR products. DNA sequences were analyzed by direct observation using an electropherogram and compared with a published reference sequence., Results: We identified three novel mutations in GLRA1. These included a large deletion removing the first 7 of 9 exons, a single-base deletion in exon 8 that results in protein truncation immediately after the deletion, and a missense mutation in exon 7 causing a tryptophan-to-cysteine change in the first transmembrane domain (M1). These mutant alleles have some distinct features as compared to previously identified GLRA1 mutations. Our data provides further evidence for mutational heterogeneity in GLRA1. The new mutant alleles reported here should advance our understanding of the etiology of hyperekplexia.

Objectives: The aim of the study was to evaluate the effectiveness of various concentric needle electromyography (EMG) motor unit action potentials (cnMUPs) and macro-EMG motor unit potentials (mMUPs) parameters for differentiation between myopathic motor unit action potentials (MUPs) and normal MUPs., Methods: We have analyzed 112 cnMUPs and 84 mMUPs recorded from 7 patients with myopathy and 256 cnMUPs, 256 mMUPs from 14 healthy subjects. Biceps brachii muscle was investigated. Evaluated variables were duration, amplitude, area, number of phases, area/amplitude ratio, size index and area/number of phases ratio for cnMUPs, area and amplitude for mMUPs. Univariate statistical analysis and discriminant analysis for each parameter were performed., Results: The variable 'area ' gave rather good discrimination than duration, amplitude, number of phases, area/amplitude ratio, and size index. As demonstrated by discriminant analysis, area/phase ratio is more useful than area alone if myopathic MUPs had to be discriminated from normal MUPs. Discriminant efficiency of mMUP parameters were lower than all cnMUP parameters except number of phases., Conclusions: The new parameter area/number of phases ratio seemed to be promising, since it produced a better yield in detecting of myopathic abnormality than other investigated parameters in discriminant analysis. Discriminating ability of macro-EMG was lower than that of cnEMG.

Functional recovery after stroke has been associated with brain plasticity; however, the exact relationship is unknown. We performed behavioral tests, functional MRI, and histology in a rat stroke model to assess the correlation between temporal changes in sensorimotor function, brain activation patterns, cerebral ischemic damage, and cerebrovascular reactivity. Unilateral stroke induced a large ipsilateral infarct and acute dysfunction of the contralateral forelimb, which significantly recovered at later stages. Forelimb impairment was accompanied by loss of stimulus-induced activation in the ipsilesional sensorimotor cortex; however, local tissue and perfusion were only moderately affected and cerebrovascular reactivity was preserved in this area. At 3 days after stroke, extensive activation-induced responses were detected in the contralesional hemisphere. After 14 days, we found reduced involvement of the contralesional hemisphere, and significant responses in the infarction periphery. Our data suggest that limb dysfunction is related to loss of brain activation in the ipsilesional sensorimotor cortex and that restoration of function is associated with biphasic recruitment of peri- and contralesional functional fields in the brain.

Somatosensory evoked potentials (SSEP) to electrical stimulation of the median nerve by using cephalic and noncephalic references were studied to detect the generator sources of short latency evoked potentials in 29 patients with cerebral, brainstem, spinal and peripheral nerve lesions. Patients were divided into six groups according to the localization of their lesions: group 1: cortical and subcortical lesions, group 2: basal ganglion lesions, group 3: pons and mesencephalon lesions, group 4: diffuse cerebral lesions, group 5: cervical cord lesions, group 6: brachial plexus lesions. Potentials were recorded using cephalic and noncephalic references after median nerve stimulation. Evidence obtained from patients suggested the following origins for these short latency SSEPs: P9 may arise in brachial plexus, P11 in dorsal basal ganglions or dorsal column, P13 and P14 in the nucleus cuneatus and lemniscal pathways, N16 in subthalamic structures and most likely mid and lower pons, N18 from the thalamus and thalamocortical tract, and N20 from primary somatosensory cortex.

A 25-year-old man with essential startle disease has been reported. He had a history of sudden jerks and falls in response to unexpected stimuli. Abnormal falling developed when he learned to walk. No similar cases are known in his family. Physical examination revealed hyperreflexia. Pathologic startle reflex was elicited by light touching on the patient's nose, clapping or making other noises. EEG response to startle stimuli consisted of spikes recorded from both centroparietooccipital regions immediately preceding diffuse muscle and movement artifacts. The motor responses to auditory stimuli, which are startle reflex on the orbicularis oculi, sternocleidomastoid, biceps and quadriceps femoris muscles, habituated within 2-4 trials. Electrical stimulation of the median nerve at the wrist elicited a consistent C reflex (cortical long loop reflex) but not any giant cortical somatosensory evoked potentials. Our patient showed early disease onset and habituation of motor response, which are not seen in other essential hyperekplexia cases, and clinically differs from the patients with hereditary hyperekplexia in which neonatal rigidity, epilepsy, apneic attacks, low intelligence, congenital dislocated hips and inguinal hernia can be seen in differing frequency.

We performed both cephalic and noncephalic reference SEP recordings with median nerve stimulation in normals and compared the results obtained from both recordings. Median nerve SEP with non cephalic reference revealed four positive and three negative potentials on scalp, while median nerve SEP with cephalic reference showed only one negative potential on scalp. We conclude that potentials originated from subcortical regions can be recorded from scalp by using noncephalic reference, which is not possible by cephalic reference and potential N20 obtained from somatosensory cortex by using cephalic reference does not present a single potential, consisting of combination of a few potentials. To differentiate these potentials, noncephalic reference must be used.

A 38-year-old man developed bilateral anterior cerebral artery territory infarction during the course of a migraine. Magnetic resonance imaging showed bilateral ischemic lesions involving the cortex of the paramedian region of the frontal and parietal lobes, more prominent on the right. Cerebral angiography was normal. To our knowledge, this is the first report of bilateral anterior cerebral artery territory infarction from migraine.