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1.
Dermatol Online J ; 29(3)2023 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-37591269

RESUMO

This case highlights a primary cutaneous rhabdomyoma presenting as a slowly enlarging subcutaneous nodule on the mentum of an 82-year-old White man with a medical history of two intracranial rhabdomyomas. Although they are rarely syndromic, it is important to note that the most common demographic for presentation of rhabdomyomas includes older males presenting as a subcutaneous nodule on the head, neck, or oral cavity. They are most often seen in isolation but can be multifocal in up to 25% of all cases. Being a rare entity, there is no generally recognized treatment consensus; however, complete surgical excision is recommended to prevent recurrence and morbidity from local tissue destruction.


Assuntos
Rabdomioma , Neoplasias Cutâneas , Idoso de 80 Anos ou mais , Humanos , Masculino , Queixo , Pescoço , Rabdomioma/diagnóstico , Rabdomioma/cirurgia , População Branca , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia
2.
Front Nutr ; 7: 574730, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33282900

RESUMO

Short-term folate deficiency has been linked to cognitive defects. Given folate's role in regulating nucleotide synthesis and DNA and histone methylation, these changes are often linked to altered gene expression and might be controlled by specific regulatory networks. In our study we examined the effects of folic acid (FA) deficient or replete diets in mice, containing either no source of folate or normal FA intake, beginning post-weaning and persisting through the end of adult life at 18 months. Our goal was to assess levels of cognition in these mice using the novel object test and then connect the cognitive results to genetic changes. FA deficient mice showed significant memory impairment compared to control counterparts beginning at 5 months and persisting through 17 months, as determined by the novel object test. These deficits were associated with 363 significantly downregulated and 101 significantly upregulated genes in the deficient condition compared to the control condition in microarray analysis of hippocampal tissue. Many of these gene expression changes were determined to be specific to the hippocampus. Significant ontological categories for differential genes included nucleotide regulation, ion channel activity, and MAPK signaling; while some of these categories contain genes previously mapped to cognitive decline, other genes have not previously been associated with cognition. To determine proteins possibly involved in regulation of these genes, we performed bioinformatics analysis and found enriched motifs of for MafB and Zfp410 binding sites. These genes and enriched motifs may represent targets for treatment or investigation of memory-related diseases.

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