Massive Soft Tissue Neurofibroma (Elephantiasis Neuromatosa): Case Report and Review of Literature.

The authors review the literature on massive soft tissue neurofibroma. The methods included a review of 71 reports (PubMed search 1929-2012) with a total of 91 massive soft tissue neurofibroma patients and illustration of clinical and radiological progression of massive soft tissue neurofibroma on a patient with neurofibromatosis type 1. The mean age at initial examination was 21 years. Tumor onset was mostly in childhood years. The commonest affected body segment was the lower extremity (46%), followed by head/neck (30%). Surgical management was pursued in the majority of cases (79%). Bleeding was a common complication (25%). Recurrence was described in 12%; multiple resections cases were described. Malignant transformation occurred in 5%. Although massive soft tissue neurofibroma may be present early in life, massive tumor overgrowth may take years. Predicting disease progression and/or benefit of surgical intervention early in the disease course is challenging. Recurrence and malignant transformation are possible. Massive soft tissue neurofibroma does not respond to chemotherapy or radiotherapy and is associated with life-threatening surgical complications.

Effects of sensory behavioral tasks on pain threshold and cortical excitability.

BACKGROUND/OBJECTIVE: Transcutaneous electrical stimulation has been proven to modulate nervous system activity, leading to changes in pain perception, via the peripheral sensory system, in a bottom up approach. We tested whether different sensory behavioral tasks induce significant effects in pain processing and whether these changes correlate with cortical plasticity. METHODOLOGY/PRINCIPAL FINDINGS: This randomized parallel designed experiment included forty healthy right-handed males. Three different somatosensory tasks, including learning tasks with and without visual feedback and simple somatosensory input, were tested on pressure pain threshold and motor cortex excitability using transcranial magnetic stimulation (TMS). Sensory tasks induced hand-specific pain modulation effects. They increased pain thresholds of the left hand (which was the target to the sensory tasks) and decreased them in the right hand. TMS showed that somatosensory input decreased cortical excitability, as indexed by reduced MEP amplitudes and increased SICI. Although somatosensory tasks similarly altered pain thresholds and cortical excitability, there was no significant correlation between these variables and only the visual feedback task showed significant somatosensory learning. CONCLUSIONS/SIGNIFICANCE: Lack of correlation between cortical excitability and pain thresholds and lack of differential effects across tasks, but significant changes in pain thresholds suggest that analgesic effects of somatosensory tasks are not primarily associated with motor cortical neural mechanisms, thus, suggesting that subcortical neural circuits and/or spinal cord are involved with the observed effects. Identifying the neural mechanisms of somatosensory stimulation on pain may open novel possibilities for combining different targeted therapies for pain control.

Síndrome de tremor e ataxia associada ao X frágil: rastreamento por PCR em amostra de idosos / Fragile X-associated tremor/ataxia syndrome: PCR-based screening in a sample of elderly men

Introdução: A presença de sequências repetidas de DNA já foi identificada como marcadoras de certas doenças neuropsiquiátricas. O gene FMR1 possui sequência rica em repetições CGG, sujeito a expansão quando transmitido por via materna. Alelos pré-mutados (55200 repetições CGG). Na mutação completa, o gene é inativado determinando a síndrome do X frágil (FRAX). Os portadores da pré-mutação não apresentam deficiência cognitiva associada à FRAX, porém, um subgrupo desses indivíduos com mais de 50 anos de idade desenvolve uma síndrome neurológica progressiva, a síndrome de tremor/ataxia associada ao X frágil (Fragile X-associated Tremor/Ataxia Syndrome–FXTAS). Objetivos: Este estudo investigou as características clínicas e moleculares dos familiares de quatro homens com mais de 50 anos de idade, familiares de indivíduos FRAX, uma vez que esses indivíduos possuem risco elevado de desenvolver o quadro de FXTAS. Resultados: Nenhum dos pacientes avaliados possuía FXTAS. Conclusão: A síndrome FXTAS foi recentemente descrita e é pouco conhecida no meio clínico e científico. Dessa forma, a avaliação de familiares de indivíduos FRAX pode contribuir para o melhor entendimento da doença e permitir a determinação de sua incidência na população brasileira.

Introduction: The presence of repeated sequences was already identified as markers of neuropsychiatric diseases. The FMR1 gene shelters a CGGrich sequence which is vulnerable to expansion when transmitted through maternal lineage. Premutated alleles (55 200 CGG repeats). In the full mutation range, the gene is inactivated causing the fragile X syndrome (FRAX). Premutation carriers do not present mental retardation, however a subgroup of permutation carriers older than 50 years can develop a progressive neurological syndrome, the Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Objectives: This approach had investigated clinical and molecular features offour males - relatives of FRAX individuals – due to the high risk of developing FXTAS. Results: None of the investigated patients had FXTAS. Conclusion: This syndrome was recently described and there is little knowledge about it by clinicians and scientists. Thus, evaluation of people in this condition can contribute to the better understanding of the disease and its incidence in the Brazilian population.