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Background: Among the comorbidities that accompany multiple sclerosis (MS), restless legs syndrome (RLS) is one of the most common. Anxiety and depression are common psychological comorbidities that impact the quality of life of patients with MS (PwMS), as well as patients with RLS. Objective: To investigate the psychiatric burden of MS and RLS coexistence, we conducted a nationwide, multicenter and cross-sectional survey. Methods: Participants were assessed by using demographic and clinical parameters along with the Hamilton Anxiety and Hamilton Depression Scales (HAM-A and HAM-D). Results: Out of the 1,068 participants, 173 (16.2%) were found to have RLS [RLS(+)] and 895 (83.8%) did not [RLS(-)]. The mean scores for HAM-A and HAM-D were significantly higher among RLS(+) subjects than among RLS(-) subjects (p

Introduction: The aim of the study was to present the psychometric properties of the Turkish version of the life balance inventory in individuals with multiple sclerosis. Methods: Life balance inventory was translated and adapted considering common suggestions. Participants were cross-sectionally evaluated twice with life balance inventory, with a 1-week interval. Expanded Disability Status Scale, Beck Depression Scale, and Short Form-12 were used to assess the convergent validity. Results: A total of 113 individuals with multiple sclerosis were enrolled in the study. Test-retest reliability of the total score and all subscores of the life balance inventory were excellent (intraclass correlation coefficient > 0.80). The internal consistency of the life distress inventory was excellent (α = 0.73–0.95). The correlation of Expanded Disability Status Scale with life balance inventory and its subscores was low in the scope of divergent validity, as expected ( r Conclusion: The Turkish life balance inventory is a reliable and valid inventory in patients with multiple sclerosis. Life balance inventory comprehensively evaluates the life balance parameters of multiple sclerosis patients.

Purpose Examining sleep-related behavioral disorder strategies in detail for MS patients provides an essential assessment to address specific disease findings. The aim of the study was to demonstrate the reliability and validity of the Turkish Sleep-Related Behaviors Questionnaire in patients with multiple sclerosis (MS). Methods A total of 100 MS patients were filled Sleep-Related Behaviors Questionnaire (SRBQ), Beck Depression Inventory (BDI), Insomnia Severity Index (ISI), and Pittsburgh Sleep Quality Index (PSQI). One week later, 30 randomly selected patients were refilled the SRBQ. The test-retest reliability, internal consistency, and contruct validity were determined. Results The mean age of the individuals included in the study was 38.9 +/- 11.0 years. The ICC value of the reproducibility of SRBQ was calculated as 0.877 (CI: 0.74-0.94). The test-retest reliability of the SRBQ was excellent (ICC > 0.80). Cronbach's alpha value of the SRBQ was 0.877, which indicates excellent consistency. The SRBQ had correlation coefficients of 0.573, 0.509, and 0.523 with ISI, PSQI, and BDI, respectively. The SRBQ had high validity (r > 0.50, p < 0.01). Conclusion The Turkish SRBQ was found to be valid and reliable in patients with MS. Owing to the long but comprehensive nature of the SRBQ, a low-cost detailed measurement could be obtained in clinical practice.

Background The 30-second Chair Stand Test (30s-CST) and Modified Four Square Step Test (mFSST) are used to determine the functional status of individuals with multiple sclerosis (MS). No other studies have demonstrated the reliability and validity of the 30s-CST and mFSST. Purpose To identify the test-retest reliability, concurrent validity and the known-group validity of the 30s-CST and mFSST in persons with MS. Methods A total of 64 persons with MS were enrolled. 30s-CST, mFSST, Timed Up and Go Test (TUG) and Five Times Sit to Stand (FTST) tests were performed. 30s-CST and mFSST were conducted again one-hour later. Results The mean age of the persons with MS were 37.9 +/- 11.3 years. The test-retest reliability of the 30s-CST and mFSST were excellent (ICC30s-CST = 0.974, 95%CI: 0.95-0.98; ICCmFSST = 0.992, 95%CI: 0.98-0.99). The 30s-CST was strongly correlated with FTST and TUG (r(1) = -0.871, p(1) = 0.0001; r(2) = -0.741,p(2) = 0.0001). There was a strong relationship between mFSST with TUG and FTST (r(1) = 0.781,p(1) = 0.0001;r(2) = 0.788,p(2) = 0.0001). The SEM95 and MDC95 values of the 30s-CST and mFSST were 0.41/1.13 and 0.34/0.94, respectively. Besides, there were significant differences between the persons with or without fall history in 30s-CST (MD: 1.66, CI: 0.27 to 3.05, p = .019) and mFSST CST (MD:-2.70, CI: -4.73 to -0.67, p = .010) performances. Conclusion The 30s-CST and mFSST are both valid and reliable in mildly-disabled individuals with MS.

Objective: To demonstrate the psychometric properties of the Turkish Fatigue Assessment Scale (FAS). Materials and Methods: A total of 104 patients were recruited. The patients were assessed twice, 1 week apart. Patients completed the FAS, Fatigue Severity Scale (FSS), EuroQol 5 dimensions 3 L (EQ 5D 3 L), and Beck Depression Scale (BDS) in the initial assessment. Thirty four patients completed the FAS again in the second assessment. Results: The mean age of the patients with multiple sclerosis (MS) was 37.6 ± 10.1 years. The intraclass correlation coefficient (ICC) of the FAS was excellent (ICC = 0.812). The Cronbach alpha coefficient of the FAS was 0.914. The alpha of the FAS was excellent (>0.80). Standard error of measurement and minimal detectable change of the FAS were 3.51 and 9.73 respectively. The relationship between the FAS (test, retest) and the FSS was excellent (r1 = 0.767, r2 = 0.782, P < 0.01). The EQ 5D 3 L index score was both strongly related with FAS (test, retest) (r1 = ?0.500, r2 = ?0.745, P < 0.01). The EQ 5D 3 L Visual Analog Scale score was also highly correlated with FAS (test, retest) (r1 = ?0.536, r2 = ?0.764, P < 0.01). Besides, FAS (test, retest) scores were strongly correlated with BDS total scores (r1 = 0.540, r2 = 0.571, P < 0.01). Conclusions: The Turkish FAS is a reliable and valid scale for individuals with MS.

Purpose: To our knowledge, no other studies have demonstrated the reliability and validity of the Figure of Eight Walking Test (F8WT) and L Test in patients with multiple sclerosis (MS). The aim of the study was to prove the test-retest reliability and concurrent validity of the F8WT and L Test in patients with MS.Methods: A cross-sectional study was conducted with 52 patients with MS. A clinical neurologist evaluated patients by Expanded Disability Status Scale (EDSS). Participants completed the F8WT, L Test, Timed Up and Go Test (TUG), and Timed 25-Foot Walk Test (T25FW) in the first assessment session. Then, the F8WT and L Test was retested one hour later. The same evaluator completed all of the assessments.Results: The ICC of both tests were excellent (ICCF8WT: 0.972, ICCL Test: 0.986). F8WT and L test measurement did not show a systematic bias and were within the agreement limits. The Standard Error of Measurement (SEM95) and Minimal Detectable Change (MDC95) values of the F8WT was 0.58 and 1.60, respectively. Besides, L Test's SEM95 and MDC95 were 0.59 and 1.63. The correlation between F8WT with TUG, T25FW and EDSS was 0.849, 0.810 and 0.453. On the other hand, the L test's correlation coefficient with TUG, T25FW and EDSS 0.682, 0.706 and 0.535, respectively (p < 0.01). Individuals with EDSS

Introduction: The main purpose of the present study is to confirm Peripapillary Retinal Nerve Fiber Layer (pRNFL) thickness is a biomarker of axonal degeneration in patients with Multiple Sclerosis (MS) and to evaluate its relationship with Neurofilament heavy chain (NfH) and Nitrotyrosine (NT). Method: We quantified serum (s) and/or cerebrospinal fluid (CSF) NfH and NT levels in 30 relapsing-remitting MS patients (RRMS), 16 secondary progressive MS (SPMS) patients and in 29 control subjects matched for age and gender. Optical coherence tomography (OCT) measurements of pRNFL were performed in all subjects. Clinical outcomes were tested by Multiple Sclerosis Functional Composite (MSFC) and Expanded Disability Status Scale (EDSS). Results: RRMS patients exhibited significantly higher NfH/NT levels (99 pg/mL, 107.52 nM respectively) than controls (74 pg/mL, 48.72 nM) in CSF (p, Scientific Research Found of Ege University School of Medicine [12-TIP-003], This study was supported by the Scientific Research Found of Ege University School of Medicine (12-TIP-003).

Background: COVID-19 is a multisystemic infection with variables consequences depending on individual and comorbid conditions. The course and outcomes of COVID-19 during neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD) are not clearly known. Objective methods: the aim of this study was to examine the features and outcomes of COVID-19 infection in NMOSD and MOGAD patients. The patients' demographic and clinical factors, disease modifying treatment (DMT) used and disease information of COVID-19 infection were recorded. Conditions leading to hospitalization and severe exposure to COVID-19 infection were also analyzed. Results: the study included 63 patients from 25 centers. Thirty-two patients (50.8%) belong to AQP-4 seropositive group, 13 (20.6%) and 18 (28.6%) were in MOG-positive and double-seronegative groups, respectively. Risk factors for severe COVID-19 infection and hospitalization were advanced age, high disability level and the presence of comorbid disease. Disease severity was found to be high in double-seronegative NMOSD and low in MOGAD patients. No statistically significant effect of DMTs on disease severity and hospitalization was found. Conclusion: in NMOSD and MOGAD patients, advanced age, high disability and presence of comorbid disease pose risks for severe COVID-19 infection. There was no direct significant effect of DMTs for COVID-19 infection., NA

Objective The study was aimed to translate and adapt the Telemedicine Satisfaction and Usefulness Questionnaire (TSUQ) and Telemedicine Patient Questionnaire (TPQ) into Turkish, thereafter to analyze the psychometric properties of both questionnaires. Methods A total of 149 multiple sclerosis (MS) patients were recruited in the study. For 4 years, all patients were supervised by a department clinician using telemedicine. Cronbach's alpha coefficient was used to assess internal consistency. By evaluating the scores of 41 retested patients 1 week later, the test-retest reliability was determined using the intraclass correlation coefficient (ICC). Pearson's correlation coefficient was used to assess the construct validity (r). Results A total of 149 patients (103 women, 46 men) with a mean age of 40.9 +/- 10.9 years were included in the study. MS duration of the patients was 9.15 +/- 6.24 years. Internal consistency of all items and the total score of the TSUQ were excellent (>0.80; ranged 0.971-0.974). On the other hand, the internal consistency of all items and total score of the TPQ was excellent, either (>0.80; ranged 0.878-0.890). The ICC of the TSUQ's and TPQ's total score was excellent (>0.80). The correlation between TSUQ and TPQ was strong (r=0.734, p

Background Recently, urinary excretion of the tetrasaccharide 6-α-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantile- and late-onset Pompe patients in the Turkish population. Methods In this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0–64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method. Results Our data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p Conclusions The results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define age-based decision levels for the diagnosis of LOPD.

PubMed: 32473575 Background: Although studies report a high prevalence rate of restless legs syndrome (RLS) among patients with multiple sclerosis (PwMS) ranging from 13.3 to 65.1%, little is known about the causes of this relationship. Methods: To ascertain the prevalence, features and impact of RLS among PwMS a nation-wide, multicenter, prospective and a cross-sectional survey, designed to reflect all of the PwMS throughout Turkey, was conducted in 13 centers. Exploring the relationship of the two conditions could possibly contribute to the understanding of the causes of the high and wide-ranging prevalence rates and the pathophysiology of both diseases. Results: Of the 1068 participants 173 (16,2%) found to have RLS [RLS(+)] and 895 (83,8%) did not [RLS(-)]. Among the RLS(+) 173, all but 8 patients (4,6%) were underdiagnosed in terms of RLS. More than half of the patients with RLS had ‘severe’ or ‘very severe’ RLS. The onset of RLS was before or synchronous with the onset of MS in about a half of our patients. Conclusion: We conclude that RLS should be meticulously investigated in PwMS and MS can be a direct cause of RLS at least in part of PwMS. Our data about the timing of the onset of MS and RLS, along with the high prevalence of RLS in PwMS suggest that the pathologic changes in the initial phases of MS can possibly trigger RLS symptoms. © 2020 Elsevier B.V.

Purpose The study was purposed to investigate the effect of COVID-19 disease on fatigue, sleep quality, physical activity, quality of life, and psychological status in people with MS. Methods A total of 104 people with MS, including 46 of them with COVID-19 disease history, were enrolled in the study. All patients were evaluated with the Expanded Disability Status Scale (EDSS), Fatigue Severity Scale (FSS), Pittsburgh Sleep Quality Index (PSQI), International Physical Activity Questionnaire Short Form (IPAQ-SF), the EuroQoL Instrument (EQ-5D-3L), the Fear of COVID-19 Scale (FCV-19S) and the Coronavirus Anxiety Scale (CAS). Results People with MS in the COVID-19 positive group had a significantly lower IPAQ-Total score (p = 0.014). Besides, the FCV-19S scores of COVID-19 positive patients were significantly higher (p = 0.006). EQ-5D-3L Index and EQ-5D-3L VAS scores were higher in the group with COVID-19 (p1 = 0.021, p2 = 0.014, respectively). FCV-19S had a moderate correlation with EDSS (r = -0.362). IPAQ-Total was moderately associated with MS duration, EDSS and FSS (r1 = -0.471, r2 = -0.389, r3 = -0.388, respectively). The EQ-5D-3L Index was moderately correlated with FSS (r1 = -0.404). There was a weakly significant relationship between EQ-5D-3L Index and BMI, MS duration, PSQI and CAS (r1 = -0.471, r2 =-0.389, r3 = -0.388, r4 = -0.326, respectively). On the other hand, EQ-5D-3L was moderately associated with VAS and EDSS and PSQI (r1 = -0.393, r2 = -0.357, respectively). Conclusion COVID-19 negatively affected the people with MS's physical activity and coronavirus related fear parameters. However, the causality of this influence should be investigated in detail.

WOS: 000473218600009, Objective: We aimed to investigate the correlations of urinary symptoms with urodynamic findings in patients with multiple sclerosis (MS) and their effects on quality of life. Methods: Nineteen MS patients with urinary symptoms were included. The data were obtained from files or with face-to-face interviews. Symptom types of patients were categorized as irritative, obstructive, and mixed. The Incontinence Quality of Life Scale, the King's Quality of Life Questionnaire (KQL) and the International Consultation on Incontinence Modular Questionnaire-Short Form were used to determine the effect of urinary symptoms on quality of life. The Extended Disability Status Scale (EDSS) was used to assess disability. All patients underwent urodynamic examination. Results: Of the 478 patients, 34.5% had visited a psychiatrist once in their lifetime, 13.6% were diagnosed with depression, and 13.8% did not know the diagnosis of mental disease; 32.2% were suggested medication by their doctor, 16.7% did not know the name of this medication, and 13.2% stated that the suggested drug was antidepressant. Moreover, 24.9% of the patients were known to use antidepressant at least once in their lifetime, and 16.3% were still using antidepressants. Among patients using antidepressants, 32% continued using this drug upon doctor's recommendation and 13.6% continued with the diagnosis of depression. Conclusion: The urinary symptoms significantly affect the quality of life in MS patients. Since symptoms do not always correlate with the underlying pathology, it is more appropriate to give the treatment based on the bladder type in urodynamic testing.

WOS: 000423337400011, PubMed ID: 29367459, We identify 2 homozygous mutations in the epsilon-subunit of the muscle acetylcholine receptor ( AChR) in 3 patients with severe congenital myasthenia: epsilon R218W in the pre-M1 region in 2 patients and epsilon E184K in the beta 8-beta 9 linker in 1 patient. Arg218 is conserved in all eukaryotic members of the Cysloop receptor superfamily, while Glu184 is conserved in the alpha-, delta-, and epsilon-subunits of AChRs from all species. epsilon R218W reduces channel gating efficiency 338-fold and AChR expression on the cell surface 5-fold, whereas epsilon E184K reduces channel gating efficiency 11-fold but does not alter AChR cell surface expression. Determinations of the effective channel gating rate constants, combined with mutant cycle analyses, demonstrate strong energetic coupling between epsilon R218 and epsilon E184, and between eR218 and epsilon E45 from the beta 1-beta 2 linker, as also observed for equivalent residues in the principal coupling pathway of the alpha-subunit. Thus, efficient and rapid gating of the AChR channel is achieved not only by coupling between conserved residues within the principal coupling pathway of the alpha-subunit, but also between corresponding residues in the epsilon-subunit., NIH grantUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [NS 6277, NS031744], This work was supported in part by NIH grants NS 6277 to AGE and NS031744 to SMS.

WOS: 000373736400014, PubMed ID: 25936385, Objective: To determine the frequency and severity as well as the diagnosis and treatment of overactive bladder problems in patients with multiple sclerosis (MS) followed up at five centers in Turkey. Design: Survey study. Setting: Outpatient tertiary clinics of physical medicine and rehabilitation and neurology. Participants: Consecutive MS patients scheduled for outpatient follow-up (n=309). Intervention: MS patients were asked to complete a questionnaire regarding the frequency and severity, as well as the diagnosis and treatment of their overactive bladder problems. Results: The mean age +/- SD was 39.3 +/- 10.6 years. Urinary urgency was the most common urinary symptom (62%), followed by frequency (50.4%), urge incontinence (44.7%) and nocturia (33%). Residual urine volume was measured using a portable ultrasound instrument in 13.3% of the patients and by catheterization in 16.2% of them. Urodynamic investigations and urinary tract ultrasound were performed on 26.5% and 35.3% of the patients, respectively. Anticholinergic medications were prescribed for 27.5% of the patients. Intermittent catheterization and indwelling catheterization were used on 8.1% and 1.9% of the patients, respectively. The overactive bladder symptom score (OABSS) was significantly higher in patients who had had residual urine measurement (P

WOS: 000335016500001, PubMed ID: 25944978, Objective. The aim of our study was to investigate the frequency and pattern of cognitive impairment in patients with clinically isolated syndromes and definite diagnosis of multiple sclerosis within the last 2 years. Methods. We assessed the cognitive status of 46 patients aged 18-49 years with clinically isolated syndromes or definite diagnosis of multiple sclerosis who have onset of their symptoms within the last 2 years. Patients were matched with 40 healthy participants for age, sex, and educational level. Neuropsychological assessment was performed by stroop test, paced auditory serial addition test (PASAT), controlled oral word association test (COWAT), clock drawing test, trail making test (TMT), faces symbol test (FST). Hamilton Depression Scale and Modified Fatigue Impact Scale were used to quantify the severity of any depression and fatigue the subjects might suffer. Results. 19.6% of early MS/CIS group failed at 4 and more tests and had significant cognitive impairment focused on attention, executive functions, memory, and learning. No significant relationship was found between cognitive impairment and disability and fatigue scores. Discussion. Cognitive impairment can be present from the earliest stage of multiple sclerosis. It should be considered among the main manifestations of MS even in the earliest stages of the disease.

Amaç: Multipl skleroz (MS) çocukluk ve adolesan döneminde daha nadirdir. Tüm MS olgularının %2-5'inde başlangıç yaşı 16 yaşından öncedir. Çocukluk döneminde MS'in klinik profile erişkinlere benzese de bazı farklılıklar olabilir. Hastalık genç yaşta dizabiliteye neden olabilir. Bu çalışmada pediyatrik başlangıçlı MS'in klinik özellikleri ve hastalık seyrinin araştırılması amaçlanmıştır. Metod: Çalışmada hastalığı 18 yaş öncesinde başlayan 21 hastanın kayıtları retrospektif olarak değerlendirilmiştir. Cinsiyet, başlangıç yaşı, seyri, relaps oranları, kullandıkları immünmodulatör tedaviler incelenmiştir. Sonuçlar: Çalışmaya 21 hasta alınmıştır. Ortalama başlangıç yaşı 15,2'dir, 8-17 arasında değişmektedir. Kadın erkek oranı 1,3' tür. Ortanca izlem süresi 5 yıldır. En sık başlangıç semptomları piramidal semptomlar (9 hastada), beyin sapı semptomları (8 hastada) ve optik nörittir (4 hastada). Hastalığın başlangıcında 19 hasta relapsing remitting formdaydı fakat 3 hastada 30 yaşından önce sekonder progresyon gözlenmiştir. İki hasta klinik izole sendromludur. On dokuz hasta immünmodulatör tedavi almıştı, 4 hastada progresif gidiş ve relapslar nedeniyle mitoksantron uygulanmıştı. Sonuç: Pediyatrik başlangıçlı multipl sklerozun klinik görünümü genellikle iyidir fakat uzun dönemde hastalar genç yaşta engelli hale gelebilir., Objective: Multiple Sclerosis is uncommon in children and adolescents. Two to 5 % of all patients with MS have onset before age 16. Although the clinical profile of MS appears similar to adults some features may differ. The disease may lead to significant disability at a younger age. Our aim is to determine the clinical features and, disease course in pediatric onset multiple sclerosis. Methods: In this study, we evaluated 21 patients with pediatric onset (before age 18). The records of patients were reviewed retrospectively. The following variables were evaluated; sex, age at onset, presenting symptoms, disease course, relapse rate, immunomodulatory treatment. Results: Twenty one patients were included to study. The mean age at onset was 15.2 (ranged 8-17). The female/male ratio was 1.3. The median follow up period was 5 years. The major presenting symptoms were pyramidal (9 patients), brainstem (8 patients) and optic neuritis (4 patients). The initial disease course was relapsing remitting in 19 patients but in 3 patients, secondary progression was observed before age 30. Two patients were with clinically isolated syndrome. Nineteen patients were treated with immunomodulatory drugs. In 4 patients Mitoxantrone was used because of progressive course and relapses. Conclusion: The clinical presentation of multiple sclerosis with pediatric onset is usually benign but in the long term, patients with pediatric onset can become disabled at a younger age.

Carbendazim (C9H9N3O2; methyl 1-H-benzimidazol-2-yl carbamate) is widely used as an agricultural and horticultural fungicide and pesticide around the world.1No hazardous effects of carbendazim on the health of humans has yet been reported. However, in animals, especially in rats, adverse effects, including testicular atrophy, infertility, ascendant paralysis, respiratory failure, and muscle cramps due to chronic carbendazim exposure have been well documented.2-4 Recently, we have treated a 60 year old female farmer who had been affected by excessive exposure to carbendazim. She was admitted to our clinic 3 days after the intoxication, which occurred when she disinfected nits with mitrasol, which contains carbendazim. She was exposed to carbendazim for 6 hours and at night, after returning from work, she slowly developed ptosis and dysphagia for especially liquid. She was admitted to the local state hospital and given atropine for 3 days because of suspicion of organophosphorus intoxication. However, her complaints persisted …

WOS: 000167163100015, PubMed ID: 11181860, Objective-Oropharyngeal dysphagia is a common feature of patients with myotonic dystrophy and is not usually perceived due to their emotional deficits and lack of interest. The aim was to show the existence and frequency of subclinical electrophysiological abnormalities in oropharyngeal swallowing and to clarify the mechanisms of dysphagia in myotonic dystrophy. Methods-Eighteen patients with myotonic dystrophy were examined for oropharyngeal phase of swallowing by clinical and electrophysiological methods. Ten patients had dysphagia whereas 11 patients had signs and symptoms reflecting CNS involvement. Four patients with myotonia congenita and 30 healthy volunteers served as controls. Laryngeal movements were detected by means of a piezoelectric sensor. EMG activities of the submental muscle (SM-EMG) and needle EMG of the cricopharyngeal muscle of the upper eosophageal sphincter (CP-EMG) were also recorded during swallowing. Results-In about 70% of the patients with myotonic dystrophy, the existence of oropharyngeal dysphagia was indicated objectively by means of the technique of "dysphagia limit" and by clinical evaluation. Duration of the swallowing reflex as defined by the laryngeal relocation time (0-2 time interval) and submental muscle excitation as a part of the swallowing reflex (A-C interval) were significantly prolonged in patients with myotonic dystrophy, especially in dysphagic patients. Triggering time of the swallowing reflex (A-0 interval) also showed significant prolongation, especially in the patients having both dysphagia and CNS involvement. During swallowing, CP muscle activity was abnormal in 40% of the patients with myotonic dystrophy. Conclusion-Both myopathic weakness and myotonia encountered in oropharyngeal muscles play an important part in the oral and the pharyngeal phases of swallowing dysfunction in myotonic dystrophy. It was also suggested that CNS involvement might contribute to the delay of the triggering of the swallowing reflex and some abnormal EMG findings in the CP sphincter, resulting in oropharyngeal dysphagia in myotonic dystrophy.

WOS: A1996VT28700013, PubMed ID: 8937344, Objective-Before the advanced evaluation of deglutition and selection of a treatment method, objective screening methods are necessary for patients with dysphagia. In this study a new electroclinical test was established to evaluate patients with dysphagia. Methods-This test is based on determining piecemeal deglutition; which is a physiological phenomenon occurring when a bolus of a large volume is divided into two or more parts which are swallowed successively. The combined electrophysiological and mechanical method used to record laryngeal movements detected by a piezoelectric transducer, and activities of the related submental integrated EMG (SM-EMG)-and sometimes the cricopharyngeal muscle of the upper oesophageal sphincter (CP-EMG)-were performed during swallowing. Thirty normal subjects and 66 patients with overt dysphagia of neurogenic origin were investigated after detailed clinical evaluation. Twenty patients with a potential risk of dysphagia, but who were normal clinically at the time of investigation, were also evaluated to determine the specificity of the test. All subjects were instructed to swallow doses of water, gradually increasing in quantity from 1 ml to 20 ml, and any recurrence of the signals related to swallowing within the eight seconds was accepted as a sign of dysphagia Limit. Results-In normal subjects as well as in the patients without dysphagia, piecemeal deglutition was never seen with less than 20 mi water. This volume was therefore accepted as the lower limit of piecemeal deglutition. In patients with dysphagia, dysphagia limits were significantly lower than those of normal subjects. Conclusion-The method is a highly specific and sensitive test for the objective evaluation of oropharyngeal dysphagia even in patients with suspected dysphagia of neurogenic origin. It can also be safely and simply applied in any EMG laboratory.

WOS: 000331415100007, PubMed ID: 24291332, We describe a 34-year old man presenting with subacute generalized myasthenic symptoms. His clinical features and laboratory investigations demonstrated both myasthenia gravis and myotonic dystrophy type 1. The computerized tomography of chest revealed anterior mediastinal mass. The lymphocyte-rich thymoma was removed surgically and he received radiotherapy. Recent observations suggested that the patients with myotonic dystrophy may have an increased risk of benign and malignant tumours but its coexistence with thymoma is very rare. The risk of thymoma associated with myotonic dystrophy is unknown. (C) 2013 The Authors. Published by Elsevier B.V. All rights reserved.