| MRI findings in liquor hypotension syndrome |
Dynamic thiol/disulphide homeostasis in children with Duchenne muscular dystrophyAbstractDuchenne muscular dystrophy (DMD) is a disorder that alter the expression of the dystrophin protein. Dystrophin deficiency alters the structural integrity of the contractile apparatus/sarcolemmal integrity, leading to dystrophic changes. Dystrophin deficiency results in an increase in oxidative stress. We aimed to investigate the thiol/disulfide balance as an oxidative stress marker in children with DMD. We included 24 DMD, and 22 healthy control group subjects in the study. The total thiol, native thiol, and disulphide levels were measured and the disulphide/native thiol, disulphide/total thiol and native thiol/total thiol ratios were calculated in DMD patients and healthy subjects. The mean age distribution of the patients and the healthy control group subjects was similar. The total thiol, native thiol, and disulfide levels were lower in DMD group than the healthy controls. In conclusion, the markers and ratios were measured and calculated in the blood, and we detected that the total thiol, and native thiol levels were lower in DMD group than the healthy controls. These results indicate that dynamic thiol-disulphide homeostasis can be used as a marker of oxidative stress in clinical trials with DMD. |
| Distal 1q21.1 and proximal 1q21.2 microduplication in a child with attention-deficit hyperactivity disorder |
| Central-variant posterior reversible encephalopathy syndrome in a young patient with systemic lupus erythematosus |
| Serum troponin T in patients with amyotrophic lateral sclerosis |
| Brain abscess due to Nocardia infection in an immunocompetent patient with asymptomatic pulmonary alveolar proteinosis |
| Writer's cramp: a new dystonic feature in spinocerebellar ataxia type 3 |
Predictors of amyotrophic lateral sclerosis mimic syndromeAbstractThe term amyotrophic lateral sclerosis mimic syndrome (ALSms) includes pathologies that present signs or symptoms similar to those caused by amyotrophic lateral sclerosis (ALS), which can lead to misdiagnosis. In general, any kind of misdiagnosis can result in negative clinical, psychological and economic consequences as well diagnostic and treatment delay. The objectives were to determine the frequency and to compare the demographic and clinical characteristics of patients with ALS and ALSms in our ALS clinic. We retrospectively studied all patients evaluated from 2007 to 2017 including only patients with a definite final diagnosis. Out of 368 patients with motor neuron disease symptomatology, 43 (11.7%) had an ALSms. The most frequent etiology was compressive myelopathy (32.6%). Multivariate analysis considering positive associations was statistically significant for patients having only upper or lower motor neuron signs in the physical examination, a non-compatible electromyogram (EMG), as well as atypical first symptoms. ALS misdiagnosis is an ongoing and not infrequent problem. From our series of patients, atypical symptoms, absence of EMG pathological findings or isolated upper or lower motor neuron disease should prompt suspicion of a differential diagnosis. |
| Letter to the editor: phenytoin-induced rhabdomyolysis |
| Psychotic polyembolokoilamania secondary to left parietal lobe glioblastoma |
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