Anti-MOG (Myelin Oligodendrocyte Glycoprotein)-Positive Severe Optic Neuritis with Optic Disc Ischaemia and Macular Star.

A 44-year-old man presented with severe right visual loss. The right fundus examination showed marked optic disc oedema associated with partial macular star. Serological blood tests for infectious agents were all negative. Serum aquaporin-4 antibody was negative but anti-MOG (myelin oligodendrocyte glycoprotein) was positive. Magnetic resonance revealed extensive lesion in right optic nerve. There was no visual improvement after intravenous therapy. Patient had no further attacks after follow-up. Optic disc oedema with macular star is found in several infectious and non-inflammatory disorders, but it has not been reported in optic neuritis (ON) associated with autoantibodies to myelin oligodendrocyte glycoprotein (anti-MOG).

[Analysis of electrocardiographic recordings associated with acute myocardial infarction]. / Análise de registros eletrocardiográficos associados ao infarto agudo do miocárdio.

OBJECTIVE: Evaluate correlations between variations in eletrocardiogram (ECG) recordings and acute myocardial infarction. METHODS: Use of a low-cost software to digitalize printed and/or ".pdf" file format ECG recordings. Calculation of ST-segment area and amplitudes of the J and Y points. RESULTS: The amplitude of the Y point holds maximum correlation with troponin concentration. ST-segment elevation is not a good statistical indicator of myocardial infarction severity. There is a strong negative correlation between the amplitude of the J point and the amount of magnesium ions, but no statistical correlation with sodium or calcium ions. Neither method for calculating the ST-segment area (pixel counts and interpolation) indicated any significant differences in the results. CONCLUSION: The software used proved to be functional and cost-effective. Y point amplitude is a sensitive marker of myocardial infarction, and is also a calculation method both simpler to use and less subject to error than the calculation of the ST-segment elevation area.

Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia.

Autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating neurodegenerative diseases that are related to at least 36 different genetic loci; they are clinically characterized by progressive cerebellar ataxia and are frequently accompanied by other neurological and non-neurological manifestations. The relative frequency of SCA varies greatly among different regions, presumably because of a founder effect or local ethnicities. Between July 1998 and May 2012, we investigated 320 Brazilian patients with an SCA phenotype who belonged to 150 unrelated families with an autosomal dominant inheritance pattern and 23 sporadic patients from 13 Brazilian states. A total of 265 patients (82.8%) belonging to 131 unrelated families (87.3%) were found to have a definite mutation, and SCA3 accounted for most of the familial cases (70.7%), followed by SCA7 (6%), SCA1 (5.3%), SCA2 (2.7%), SCA6 (1.3%), SCA8 (0.7%) and SCA10 (0.7%). In the Ribeirão Preto mesoregion, which is located in the northeast part of São Paulo State, the prevalence of SCA3 was approximately 5 per 100,000 inhabitants, which is the highest prevalence found in Brazil. No mutation was found in the SCA12, SCA17 and DRPLA genes, and all the sporadic cases remained without a molecular diagnosis. This study further characterizes the spectrum of SCA mutations found in Brazilian patients, which suggests the existence of regional differences and demonstrates the expansion of the SCA8 locus in Brazilian families.