RESUMO
BACKGROUND: Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease with unknown etiology. Data on the genetic background in SRUS is lacking. CASE SUMMARY: Here, we report the first case of SRUS in a mother-son relationship. Gene sequencing was conducted on the whole family, which revealed an inherited CHEK2 p.H371Y mutation. The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein, but affected the function of CHEK2, resulting in the expression level changes of downstream genes such as CDC25A. CONCLUSION: SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.
Assuntos
Doenças do Colo , Doenças Retais , Humanos , Úlcera/genética , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Doenças Raras , Quinase do Ponto de Checagem 2/genéticaRESUMO
Dentition is an individualizing structure in humans that may be potentially utilized in individual identification. However, research on the use of three-dimensional (3D) digital models for personal identification is rare. This study aimed to develop a method for individual identification based on a 3D image registration algorithm and assess its feasibility in practice. Twenty-eight college students were recruited; for each subject, a dental cast and an intraoral scan were taken at different time points, and digital models were acquired. The digital models of the dental casts and intraoral scans were assumed as antemortem and postmortem dentition, respectively. Additional 72 dental casts were extracted from a hospital database as a suspect pool together with 28 antemortem models. The dentition images of all of the models were extracted. Correntropy was introduced into the traditional iterative closest point algorithm to compare each postmortem 3D dentition with 3D dentitions in the suspect pool. Point-to-point root mean square (RMS) distances were calculated, and then 28 matches and 2772 mismatches were obtained. Statistical analysis was performed using the Mann-Whitney U test, which showed significant differences in RMS between matches (0.18±0.03mm) and mismatches (1.04±0.67mm) (P<0.05). All of the RMS values of the matched models were below 0.27mm. The percentage of accurate identification reached 100% in the present study. These results indicate that this method for individual identification based on 3D superimposition of digital models is effective in personal identification.
Assuntos
Dentição , Odontologia Legal/métodos , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional , Modelos Dentários , Adulto , Algoritmos , Estudos de Viabilidade , Feminino , Humanos , Masculino , Adulto JovemRESUMO
Wilms tumor gene on the X chromosome (WTX) is a putative tumor suppressor gene in Wilms tumor, but its expression and functions in other tumors are unclear. Colorectal cancer (CRC) is the third leading cause of cancer-related deaths in women and the second leading cause in men in the United States. We demonstrated that WTX frequently lost in CRC which was highly correlated with cell proliferation, tumor invasion and metastasis. Mechanistically, WTX loss disrupts the interaction between RhoGDIα and CDC42 by losing of the binding with RhoGDIα and triggers the activation of CDC42 and its downstream cascades, which promotes CRC development and liver metastasis. The aberrant upregulation of miR-20a/miR-106a were identified as the reason of WTX loss in CRC both in vivo and in vitro. These study defined the mechanism how miR-20a/miR-106a-mediated WTX loss regulates CRC progression and metastasis, and provided a potential therapeutic target for preventing CRC progression.
