The relationship between scoliosis and upper extremity functions in patients with Duchenne muscular dystrophy.

OBJECTIVES: The aim of this study was to investigate the relationship between scoliosis and upper extremity functions in patients with Duchenne muscular dystrophy (DMD). PATIENTS AND METHODS: Between January 2018 and July 2018, a total of 55 patients (54 males, 1 female; mean age: 9.9±2.9 years; range, 6 to 15 years) who were diagnosed with DMD based on the clinical, laboratory, muscle biopsy and molecular analysis results were included in this cross-sectional study. Scoliosis was evaluated and Cobb angles were measured. Functional Ambulation Scale and Brooke and Vignos scale scores were recorded. The ABILHAND-Kids questionnaire and Nine-Hole Peg Test (9-HPT) were used to assess the upper extremity functions. Hand grip strengths were also evaluated. RESULTS: The median ABILHAND-Kids scores and the hand grip strength values of the patients without scoliosis were significantly higher compared to those with scoliosis (p=0.002 and p=0.004 for right hand and p=0.012 for left hand, respectively). There was no statistically significant difference in the 9-HPT scores between the patients with and without scoliosis (p>0.05). We found a negative, significant correlation between the Cobb angle and ABILHAND-Kids scores in patients with scoliosis (r=-0.503; p=0.017). CONCLUSION: Our study results show a moderate relationship between scoliosis and upper extremity functions. Scoliosis may adversely affect upper extremity functions in patients with DMD.

Human Leucocyte Antigen B50 Is Associated with Conversion to Generalized Myasthenia Gravis in Patients with Pure Ocular Onset.

OBJECTIVES: The aim of this study was to investigate the associations between major histocompatibility complex (MHC) class I and II alleles and disease characteristics in Turkish patients with myasthenia gravis (MG). SUBJECTS AND METHODS: The MHC class I and II alleles of 108 unrelated MG patients were genotyped. The human leucocyte antigen (HLA) distribution of all MG patients and subgroups of MG patients (grouped according to disease characteristics) was compared to that of 250 healthy controls. RESULTS: Overall distributions of HLA-B*61 and C*05 were more frequent in MG patients (7.4 vs. 2.0% and 14.8 vs. 6.8%, respectively) than in non-MG patients. Subgroup analyses revealed that HLA-DRB1*14 and DQB1*02 alleles were more frequent in early-onset MG [n = 10 (20.8%) vs. n = 25 (10.0%) and n = 21 (43.8%) vs. n = 59 (23.6%)]. In patients seropositive for anti-AchR antibodies, the frequencies of HLA-B*50 and C*05 were higher. HLA-C*05, DRB1*01, and DRB1*11 were higher in patients with ocular MG. In addition, HLA-A*01, A*31, B*08, and DRB1*14 were higher among patients with thymic hyperplasia, whereas DQB1*03 was lower. However, all of these differences lost significance after correction of the p value for multiple comparisons. No allele association was found among patients with thymoma. Strikingly, patients with generalized MG who had pure ocular symptoms at disease onset had significantly increased HLA-B*50 compared to the controls (corrected p < 0.001, OR = 9.92; 95% CI 3.05-32.22). CONCLUSION: The HLA-B*50 allele was associated with conversion to generalized disease in patients with pure ocular symptoms at disease onset. This finding could extend our understanding of the complex interactions between the pathogenesis of MG and genetic heritage.

Association between the Levels of IL-6, sE-Selectin and Distal Sensory Nerve Conduction Studies in Patients with Prediabetes.

AIM: To determine the association between interleukin-6 (IL-6) and soluble E-selectin (sE-selectin) levels with the electrodiagnostic abnormalities in patients with impaired fasting glucose (IFG) and impaired glucose tolerance (IGT). METHODS: Serum HbA1c, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), fibrinogen, IL-6 and sE-selectin levels were analyzed in 25 IFG patients, 22 IGT patients and 41 controls. Nerve conduction studies (NCS) of sural, dorsal sural (DS), medial dorsal cutaneous and medial plantar sensory nerves were conducted. RESULTS: HbA1c and IL-6 levels were significantly higher in IFG and IGT patients than the controls. IGT patients had higher sE-selectin levels compared to controls and IFG patients. IL-6 levels were significantly correlated with levels of CRP, fibrinogen, ESR and sE-selectin in patients with prediabetes. Both IFG and IGT patients had substantial impairments in very distal sensory NCS. IL-6 levels were positively correlated with HbA1c and negatively correlated with DS NCS in prediabetic patients. CONCLUSIONS: Inflammation and endothelial dysfunction might be important in patients with IFG or IGT. Furthermore, our findings strengthen the idea that inflammation (increased levels of IL-6) might be associated with early electrophysiological impairments in patients with prediabetes. NCS of the most distal sensory nerves significantly enhanced the diagnosis of subclinical neuropathy in patients with prediabetes. Subclinical peripheral sensory neuropathy should be investigated in prediabetes to lower the number of future outcomes they are associated with.

Tongue myokymia presenting twelve years after radiation therapy.

OBJECTIVE: This case is a patient with tongue myokymia following radiation therapy 12 years earlier, documented using video and EMG. CASE REPORT: A 68-year-old woman with a history of nasopharyngeal carcinoma presented with subacute onset of difficulty in speaking and involuntary movements of her tongue approximately 12 years after radiation therapy to head and neck. Electromyography displayed myokymic discharges. There was no evidence of recurrent malignancy. SIGNIFICANCE: Delayed effects of radiation therapy might be seen decades later. Myokymic discharges may reveal radiation-induced neuropathy.

IL-1ß, IL-6 and IL1Ra levels in temporal lobe epilepsy.

PURPOSE: There is now extensive evidence to support the involvement of inflammation in the course of epileptic seizures. Seizure-induced changes in serum IL-1ß, IL-6 and IL-1Ra levels are reported in several studies. Serum cytokine levels may also be disturbed in inter-ictal period due to seizure activity. METHODS: Twenty-one patients (12 women; mean age 35±12.3) with temporal lobe epilepsy (TLE), 17 patients (8 women; mean age 31.8±10.4) with extra-temporal lobe epilepsy (XLE) and 20 normal controls (10 women; mean age 35.6±8.8) were included in the study. Serum levels of IL-1ß, IL-6 and IL-1Ra of the TLE, XLE groups in inter-ictal period and of the normal control group were compared. RESULTS: All three cytokine levels are found to be significantly elevated in epilepsy patients when compared to controls (p<0.05). In TLE group, IL-1ß serum levels were significantly higher than in the XLE group (p<0001). CONCLUSION: The major findings in our study were increased levels of IL-1ß, IL-6 and IL-1Ra in epileptic patients and high levels of IL-1ß in TLE group. Our results support the existence of a chronic inflammatory state in epileptic patients.

Motor protein mutations cause a new form of hereditary spastic paraplegia.

OBJECTIVE: To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP). METHODS: We used whole-exome sequencing to identify the underlying genetic disease cause in 2 families with apparently autosomal recessive spastic paraplegia. Endogenous expression as well as subcellular localization of wild-type and mutant protein were studied to support the pathogenicity of the identified mutations. RESULTS: In 2 families, we identified compound heterozygous or homozygous mutations in the kinesin gene KIF1C to cause hereditary spastic paraplegia type 58 (SPG58). SPG58 can be complicated by cervical dystonia and cerebellar ataxia. The same mutations in a heterozygous state result in a mild or subclinical phenotype. KIF1C mutations in SPG58 affect the domains involved in adenosine triphosphate hydrolysis and microtubule binding, key functions for this microtubule-based motor protein. CONCLUSIONS: KIF1C is the third kinesin gene involved in the pathogenesis of HSPs and is characterized by a mild dominant and a more severe recessive disease phenotype. The identification of KIF1C as an HSP disease gene further supports the key role of intracellular trafficking processes in the pathogenesis of hereditary axonopathies.

Interleukin-6, interleukin-1 beta and interleukin-1 receptor antagonist levels in epileptic seizures.

PURPOSE: Data are accumulating to support the involvement of inflammatory mechanisms in the pathogenesis and course of epilepsy. METHODS: The aim of this study was to examine seizure-induced changes in plasma concentrations of interleukin-6 (IL-6), interleukin-1 receptor antagonist (IL-1Ra), and interleukin-1 beta (IL-1ß) in 23 patients with epilepsy undergoing a video-electroencephalography (EEG) study. Patients were divided into groups based on epilepsy type as follows: temporal lobe epilepsy (TLE) (n=6), extra-temporal lobe epilepsy (XLE) (n=8) and idiopathic generalised epilepsy (IGE) (n=9). Serum levels of IL-1ß, IL-1Ra and IL-6 were measured at baseline, immediately after the epileptic seizure, and at 3h, 6h, 12h and 24h after the seizure. RESULTS: We demonstrated a significant increase in plasma levels of IL-6 and IL-1Ra that peaked at 12h into the post-ictal period (p<0.05). IL-1ß levels did not differ from the baseline levels. We did not observe any differences in post-ictal cytokine release patterns between the TLE, XLE and IGE groups. CONCLUSION: The present study confirms the findings that epileptic seizures induce the production of IL-6 and IL-1Ra.

Blood levels of TNF-α, IL-10, and IL-12 in idiopathic sudden sensorineural hearing loss.

OBJECTIVES/HYPOTHESIS: To investigate the blood levels of TNF-α, IL-10, and IL-12 in the idiopathic sudden sensorineural hearing loss patients, and the change of these cytokine levels after treatment. STUDY DESIGN: Prospective clinical trial. METHODS: Twenty-three patients with idiopathic sudden sensorineural hearing loss and 20 healthy people were selected as study and control groups. Blood samples for TNF-α, IL-10, and IL-12 were taken before treatment and 6 weeks after treatment. The study group was given combined treatment including dexamethasone, heparin, pentoxifyline, vitamin B1, and B6 for 10 days, and was divided into two groups: treatment responders and treatment nonresponders. The treatment responders group was also divided into three groups according to most accepted criteria for improvement in the literature. Audiograms were taken before treatment and 6 weeks after treatment to determine the response to the treatment. RESULTS: There was no significant difference between pre- and posttreatment values of IL-10 and IL-12 in all study groups (P > 0.05). There was also no significant difference between pre- and posttreatment values of TNF-α in treatment responders (P > 0.05). Treatment nonresponders had more elevated posttreatment values of TNF-α than pretreatment values (P < 0.05). CONCLUSION: IL-10 and IL-12 may not play a critical role in idiopathic sudden sensorineural hearing loss. But our data supports the role of TNF-α in the pathophysiology of idiopathic sudden sensorineural hearing loss, and TNF-α receptor blockers may have benefits in these patients.

Myasthenia gravis as a cause of head drop in Parkinson disease.

Head drop is characterized by marked anterior flexion of the cervical spine. As a result, the affected patient presents with the head tilted forward and the chin resting on the chest. We report a 75-year-old male patient with parkinsonism and head drop caused by isolated myasthenic weakness of the neck extensor muscles. Our case is the second report of isolated head drop as a presenting symptom of myasthenia gravis in a patient with parkinsonism.