A database for screening and registering late onset Pompe disease in Turkey

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved

Paraneoplastic pandysautonomia as a manifestation of non-small cell lung cancer

Pandysautonomia is a severe and rare clinical condition characterized by widespread sympathetic and parasympathetic dysfunction. Consideration of whether symptoms and presentation are acute, subacute, or chronic is often helpful in establishing a differential diagnosis. The underlying mechanisms leading to pure pandysautonomia are unclear; however, there is some evidence suggestive of an immune-mediated pathogenesis. Herein, we report a case with pandysautonomia as a paraneoplastic manifestation of non-small cell lung cancer that had an excellent response to symptomatic and supportive treatments, as well as IVIG therapy

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey

Aim: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis. Methods: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed. Results: Of the 34 cases identified, 31 were confirmed (91.2%). Eighteen patients (55.9%) were boys. The median patient age was 4 years (interquartile range 2.5-6.9 years). Most of the patients were admitted in 2018 (n = 27). A preceding history of a febrile illness was reported in all patients, with a median of 4 days (interquartile range 3-7 days) before symptom onset. Thirty-one patients had T2 hyperintensity on spinal MRI, and 18 patients had cerebrospinal fluid pleocytosis. The most common infectious agents were entero/rhinoviruses (n = 5) in respiratory specimens. All patients except one received immunotherapy either alone or in combination. Among 27 patients with follow-up data 24 had persistent weakness. Involvement of four limbs together with an abnormal brain MRI at onset were associated with a poor prognosis. Conclusion: The number of patients with acute flaccid myelitis increased since 2012, spiking with every 2-year interval, largely in the pediatric population. The median age decreases with every outbreak. Clinicians should be aware of the clinical picture for early collection of specimens and early start of rehabilitation programs. Further studies are needed to better characterize the etiology, pathogenesis, risk factors, and treatment of this rare condition. (c) 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved

The reliability of medial and lateral plantar nerve recordings in healthy elderly individuals

The aim of this study was to investigate the reliability of medial plantar (MP) and lateral plantar (LP) nerve conduction studies (NCS) in healthy individuals aged > 65 years, and to obtain reference values for this age group. The study included 81 healthy subjects. MP response was absent in only 2 subjects, but LP response could not be obtained bilaterally in 43 of the 81 subjects. Regression analysis showed that MP NCS could be reliably performed in those aged a parts per thousand currency sign72 years and normal values for MP nerve in individuals aged 66-72 years would be strongly against a large-fiber neuropathy. However, LP response was absent in 53.1 % of the healthy elderly subjects; therefore, we think it is unreliable to study the LP nerve in this age group

Dental Follicle Mesenchymal Stem Cells Enhance CD4+Foxp3+ Regulatory T Cells in the Lymphocytes of Amyotrophic Lateral Sclerosis Patients

Objective: Amyotrophic lateral sclerosis (ALS) is a disorder that causes the degeneration of motor neurons. Currently, riluzole is the only effective drug used to treat ALS; however, it has limited clinical benefits. Stem cell-based therapy has been studied as a potential novel treatment strategy for ALS and has shown to have an anti-inflammatory effects when treating this disease. In this study, we studied the immunosuppressive effect of dental follicle mesenchymal stem cells (DFSCs) on peripheral blood mononuclear cells (PBMCs) of ALS patients. Methods: DFSCs were isolated from the third molar teeth of healthy individuals, and cells were seeded in the 48 well plate 48 hours prior to PBMC isolation. PBMCs were isolated from venous blood samples of ALS patients and healthy volunteers and were cultured in the presence or absence of DFSCs. After 72 h of culture period lymphocyte proliferation, apoptosis and CD4+FoxP3+ regulatory T-cell ratios were analyzed. Results: Analysis revealed an increase in the number of CD4+FoxP3+ regulatory T cells and a decrease in the proliferative responses of lymphocytes with DFSCs. In addition, DFSCs enhanced the apoptotic effect of the lymphocytes of ALS patients, but increased cell survival in healthy individuals. Conclusion: Our study showed that DFSCs regulate inflammatory responses of lymphocytes in ALS patients and that they can be a novel therapeutic approach for treating neuroinflammatory diseases including ALS

Medial plantar-to-radial amplitude ratio: does it have electrodiagnostic utility in distal sensory polyneuropathy?

Purpose of the study: We proposed a new electrophysiological parametermedial plantar (MP)-to-radial amplitude ratio (MPRAR), similar to sural-to-radial amplitude ratio (SRAR), in the diagnosis of distal sensory polyneuropathy (DSP), based on the concept that distal nerves are affected more and earlier than proximal nerves in axonal neuropathies. We aimed to investigate the diagnostic sensitivity of this parameter in diabetic DSP, together with sensitivities of SRAR and MP nerve action potential (NAP) amplitude. Materials and Methods: In 124 healthy controls and 87 diabetic patients with clinically defined DSP and normal sural responses, we prospectively performed sensory nerve conduction studies (NCS), and evaluated the MP NAP amplitude, MPRAR and SRAR values. We determined the lower limits of normal (LLN) of these parameters in the healthy controls and calculated their sensitivities and specificities in detecting DSP in diabetic patients. Results: MP nerve amplitude and MPRAR values were significantly lower in the patient group, compared to controls. However, SRAR values did not differ significantly between the two groups. The LLN of MP NAP amplitude was found to be 4.1 mu V. The cutoff values for SRAR and MPRAR were determined as 0.24 and 0.16, respectively. MPRAR was abnormal in 21.8% of patients. However, the most sensitive parameter in detection of DSP was MP NAP amplitude, which showed a sensitivity of 31% and a specificity of 100%. Conclusions: Although MPRAR is more sensitive than SRAR in detecting DSP, it does not provide additional diagnostic yield to the assessment of MP NCS alone in diabetic DSP patients with normal sural responses

Heart rate variability analysis in patients with multiple sclerosis

Background: Multiple sclerosis can cause cardiovascular autonomic dysfunction. It is assumed that is caused by multiple demyelinating plaques localized in the brain stem and spinal cord. Previous studies have determined this using tilt table test, heart rate responses to Valsalva maneuver and deep breathing and heart rate variability analysis with 24 h Holier monitoring. However there is not a consensus regarding the presence of the relationship between autonomic dysfunction and severity of multiple sclerosis, type of multiple sclerosis and expanded disability status scale. The aim of the study is comparison of heart rate variability between recently diagnosed patients with relapsing-remitting multiple sclerosis and healthy controls by using 24 h Holier monitoring. Also we intended to investigate relationship between Expanded Disability Status Scale score, Multiple Sclerosis Functional Composite scores and cranial and spinal magnetic resonance imaging findings and hearth rate variability. Method: Fifty-one patients with newly diagnosed relapsing-remitting multiple sclerosis and 44 age- and sex-matched healthy controls were compared in this study. Patients with multiple sclerosis, who were already under immunomodulatory or immunosuppressive treatment, were excluded from the study. Echocardiography and hearth rate variability analysis using 24 h period Holier monitoring were performed in all of the subjects. Echocardiography was used to detect the presence of cardiac pathology. One multiple sclerosis patient with right ventricular dilatation and mobile intratrial septum was excluded from the study. All the patients underwent cranial and cervical spinal magnetic resonance imaging to determine the relationship between autonomic abnormalities and magnetic resonance imaging. Results: Our results showed that hearth rate variability values were significantly lower in patients with multiple sclerosis when compared with healthy controls: SDNN index (the mean of all the 5 min standard deviations of normal RR intervals during the 24 h period) (59.80 +/- 17.33 vs. 67.20 +/- 21.28, p = 0,044), the root-mean-square successive difference (rMSSD) (34.40 +/- 17.50 vs. 38.25 +/- 12.95, p = 0,042), spectral hearth rat variability total power (3738.84 +/- 2085.51 vs. 4427.44 +/- 1965.71, p = 0,037), spectral hearth rate variability low frequency (852.03 +/- 450.54 vs. 1011.75 +/- 370.06, p = 0,018). Ten patients (20%) had brainstem lesion, 25 patients (50%) had cervical lesions and 10 patients (20%) had thoracic spinal lesions on magnetic resonance imaging. There was no significant relationship between location of the lesions and heart rate variability analyses. Also there was no significant relationship between hearth rate variability values and Expanded Disability Status Scale score, Multiple Sclerosis Functional Composite scores or number of multiple sclerosis attack (p > 0,05). Conclusion: These findings reveals that our study population with multiple sclerosis had decreased heart rate variability compared to healthy controls. This was reflected by dysfunction of both parasympathetic and sympathetic parameters of hearth rate variability analysis. However, there is no significant relationship between hearth rate variability analysis and the findings on cranial, cervical, thoracic spinal magnetic resonance imaging findings, number of attack, Expanded Disability Status Scale score or Multiple Sclerosis Functional Composite scores in patients with multiple sclerosis

Reference jitter values for the sternocleidomastoid muscle with concentric needle electrodes

Background The aim of this study was to establish reference jitter values for the voluntary activated sternocleidomastoid (SCM) muscle using a concentric needle electrode (CNE). Methods The study included 39 healthy participants (20 female and 19 male) aged 18-77 y. Jitter was expressed as the mean consecutive difference (MCD) of 80-100 consecutive discharges. Filters were set at 1 and 10 kHz. The mean MCDs for all participants were pooled, and the mean value +2.5 SD was accepted as the upper limit for the mean MCD. The upper limit for individual MCD was calculated using +2.5 SD of the upper 10th percentile MCD for individual participants. Results Mean age of the participants was 45 +/- 14.5 y. Mean MCD was 16.20 +/- 2.23 mu s (range: 12-21 mu s), and the upper limit of normal for mean MCD was 21.8 mu s. The mean value for 823 individual jitters was 23.3 +/- 4.61 mu s (range: 6.6-36.9 mu s), and the upper limit of normal for each individual jitter was 34.6 mu s. Conclusions The present findings indicate that upper normal limit for mean MCD is 22 mu s and for individual data it is 35 mu s