ABSTRACT
Ultrasound (US), traditionally a diagnostic modality, and is emerging as a non-invasive therapy using local drug delivery and gene therapy. US exposure gene rates bio eff ects that result in shear stress, tissue heating, and cavitation eff ects, which are used in therapeutic applications. Sonoporation employs these eff ects to enhance delivery of large molecules such as DNA into the cells which is applied to muscle, head and neck tumor, in a cell disruption process called transformation and increases the permeability to bioactive materials, which is usually used in molecular biology and gene therapy. Nevertheless, it has recently become popular as a technique to enhance drug release from drug delivery systems. Th is review presents the main fi ndings in the fi eld of sonoporation, namely drug delivery, gene delivery and DNA transfer and its applications in dentistry.
Subject(s)
Dentistry/instrumentation , Dentistry/methods , Genetic Therapy/methods , Humans , Mouth Diseases/genetics , Mouth Diseases/therapy , Mouth Diseases/diagnostic imaging , Review Literature as Topic , Sonication/methods , Ultrasonography/methodsABSTRACT
O nevo branco esponjoso é uma desordem autossômica dominante, caracterizada por placas brancas difusas, rugosas, que afetam principalmente a mucosa bucal. A condição tem um alto grau de penetrância e expressividade variada, embora os relatos familiais sejam incomuns. Este artigo relata um caso familiar de nevo branco esponjoso em que duas irmãs são afetadas por esta condição.
White sponge nevus (WSN) is an autosomal dominant skin disorder characterized by white, corrugated and diffuse plaques mainly affecting the oral mucosa. The condition has a high penetrance and variable expressivity, but familial reports are uncommon. This report presents a familial case of WSN in which two sisters are affected by the disorder.
Subject(s)
Adolescent , Female , Humans , Leukokeratosis, Hereditary Mucosal/genetics , Mouth Diseases/genetics , Rare Diseases/genetics , Diagnosis, Differential , Leukokeratosis, Hereditary Mucosal/pathology , Mouth Diseases/pathology , Rare Diseases/pathology , SiblingsABSTRACT
The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient.
Subject(s)
Abnormalities, Multiple , Central Nervous System Diseases/complications , Central Nervous System Diseases/genetics , Choanal Atresia/complications , Choanal Atresia/genetics , Coloboma/complications , Coloboma/genetics , DNA Helicases/genetics , DNA-Binding Proteins/genetics , Heart Defects, Congenital/complications , Heart Defects, Congenital/genetics , Humans , Infant, Newborn , Male , Marfan Syndrome/genetics , Microfilament Proteins/genetics , Mouth Diseases/complications , Mouth Diseases/genetics , Point Mutation/genetics , Spinal Diseases/complications , Spinal Diseases/genetics , Syndrome , Vestibular Diseases/complications , Vestibular Diseases/geneticsABSTRACT
Síndrome peri-sylviana (SP) refere-se a diversas manifestações clínicas que podem acompanhar lesões que comprometem a região peri-sylviana ou opercular, podendo ser adquirida, como em acidentes vasculares cerebrais ou encefalites virais, ou ser congênita. A SP congênita pode se manifestar com grande variação clínica e em idades precoces. Com o advento da ressonância magnética (RM) foi possível observar a presença de polimicrogiria (PMG) na região da fissura de Sylvius em diversos pacientes com quadro clínico de SP. O objetivo do presente estudo é analisar e divulgar essa entidade raramente diagnosticada por meio da descrição de uma família. A família em questão compõe-se de cinco indivíduos acometidos, sendo o distúrbio de linguagem a manifestação mais prevalente, ou seja, presente em todos eles. Epilepsia, déficit motor e sinais pseudobulbares (como sialorréia) foram evidenciados no paciente que mostrou maior alteração à RM (PMG difusa). A paciente com PMG parietal posterior e os outros três com RM normais tiveram manifestações clínicas mais sutis. Apesar da maioria das famílias descritas até o momento apresentar transmissão ligada ao cromossomo X, a nossa família sugere transmissão autossômica dominante, já que dois meninos afetados são filhos de homens também acometidos. Os nossos dados reforçam a idéia de que a SP apresenta heterogeneidade genética.