ABSTRACT
Constitutional genomic imbalances are known to cause malformations, disabilities, neurodevelopmental delay, and dysmorphia and can lead to dysfunctions in the cell cycle. In extremely rare genetic conditions such as small supernumerary marker chromosomes (sSMC), it is important to understand the cellular consequences of this extra marker, as well the factors that contribute to their maintenance or elimination through successive cell cycles and phenotypic impact. The study of chromosomal mosaicism provides a natural model to characterize the effect of aneuploidy on genome stability and compare cells with the same genetic background and environment exposure, but differing in the presence of sSMC. Here, we report the functional characterization of different cell lines from two familial patients with mosaic sSMC derived from chromosome 12. We performed studies of proliferation dynamics, stability, and variability of these cells using fluorescent in situ hybridization (FISH), sister chromatid exchanges (SCE), and conventional staining. We also quantified the telomere-related genomic instability of sSMC cells using 3D telomeric profile analysis by quantitative-FISH. sSMC cells exhibited differences in the cell cycle dynamics compared to normal cells. First, the sSMC cells exhibited lower proliferation index and higher frequency of SCE than normal cells, associated with a higher level of chromosomal instability. Second, sSMC cells exhibited more telomeric-related genomic instability. Lastly, the differences of sSMC cells distribution among tissues could explain different phenotypic repercussions observed in patients. These results will help in our understanding of the sSMC stability, maintenance during cell cycle, and the cell cycle variables involved in the different phenotypic manifestations.
ABSTRACT
Abstract Acupuncture is a therapy of the traditional Chinese medicine technique, which over the years has been widespread in the West. Defined as a needle-point treatment technique (acupoints), exactly preconfigured in the body to produce a specific physiological reaction to restore the balance between the function of conflicting states and homeostasis, alternating states of energy and thus maintain the ideal organ and body organization. Thus, the objective of this study was to map and describe the main points of acupuncture in the species Boa constrictor , and their indications to promote the balance of this species. The unprecedented result of the mapping was the discovery of specific acupoints with individual location indications without distribution in specific meridians and dispersedly distributed in the body.
Resumo A acupuntura é uma técnica terapêutica da Medicina Tradicional Chinesa, que ao longo dos anos tem sido muito difundida no Ocidente. Definida como uma técnica de tratamento com inserção de agulhas em pontos (acupontos) exatamente pré-estabelecidos sobre o organismo, para produzir uma reação fisiológica específica com o intuito de restabelecer o equilíbrio entre estados contraditórios de função e a homeostase, alternando os estados de energia e com isto mantendo a organização do órgão e do organismo. Com isso, o objetivo do presente trabalho foi mapear e descrever os principais pontos de acupuntura nas espécies Boa constrictore suas indicações para promover o equilíbrio dessa espécie. O resultado inédito do mapeamento foi à descoberta de pontos de acupuntura específicos com indicações de localização individuais sem distribuição em meridianos específicos e dispersamente distribuídos no corpo.
Subject(s)
Animals , Acupuncture Points , Boidae/anatomy & histology , Boidae/physiology , Medicine, Chinese TraditionalABSTRACT
Abstract Many aspects of sex change in reef fishes have been studied, including behavior and social organization. However, gonad histology remains the most robust way to identify sexual patterns in fishes. Some uncommon tissues remain poorly described, such as the accessory gonadal structures found in species from the Gobiidae family, which are rare in other bony fishes. This is the first report of the testicular gland in Gramma brasiliensis and for the Grammatidae family. Between April 2011 and February 2012 eighty specimens were collected during four dive campaigns on the Taipus de Fora reef (13°56’20”S 38°55’32”W), Bahia, Northeast Brazil, and their sex was determined. Thirteen per cent of the active-females and 90% of the active-males had testicular gland tissue in their ovotestis. This discovery led to additional research into the characteristics of the gland tissue and its relationship with gonadal maturation. Three patterns of testicular gland development were found in Brazilian basslet ovotestis. Both ova and sperm-producing gonad contained testicular gland tissue, and the appearance of this tissue seems to be the first modification of ovotestis tissue marking the beginning of the protogynous sex-change process in G. brasiliensis.
Resumo Diversos aspectos da troca de sexo em peixes recifais vem sendo estudados, incluindo comportamentos e organização social. Entretanto, a histologia das gônadas continua sendo a maneira mais robusta para se identificar padrões sexuais em peixes. Alguns tecidos incomuns, tais como as estruturas anexas a gônada encontradas em espécies da família Gobiidae e raras em outras espécies são pouco estudados. Este trabalho é a primeira descrição da glândula testicular em Gramma brasiliensis e para a família Grammatidae. Entre abril de 2011 e fevereiro de 2012, oitenta espécimes foram coletados durante quatro amostragens no recife de Taipus de Fora (13°56’20”S 38°55’32”W), Bahia, Brasil, e tiveram seus sexos determinados. Treze por cento das fêmeas ativas e noventa por cento dos machos ativos apresentaram tecido da glândula testicular em suas gônadas. Esta descoberta levou ao estudo da características dessa estrutura e sua relação com a maturação gonadal. Foram identificados três padrões de desenvolvimento da glândula testicular nas gônadas do Gramma brasiliensis. Tanto as gônadas produtoras de espermatozoides quanto as de oócitos apresentaram tecido da glândula testicular, e o surgimento desse tecido parece ser a primeira modificação gonadal do início da troca de sexo protogínica em G. brasiliensis.