46, XX disorder of sexual development associated with mixed germ cell tumor of the prostate: a rare case report.

BACKGROUND: Extragonadal germ cell tumors originating from the prostate are exceptionally rare. To the best of our knowledge, there have been no reported cases of mixed germ cell tumors in individuals with 46 XX disorder of sex development. In this study, we conducted a comprehensive analysis using whole genome sequencing to investigate the clinicopathological and molecular genetic characteristics of a submitted case, with the objective of elucidating its underlying pathogenesis. CASE PRESENTATION: A 40-year-old male patient was diagnosed with a combination of 46, XX disorder of sex development and a primary prostate mixed germ cell tumor with yolk sac tumor and teratoma components. Whole-genome sequencing revealed that the tumor cells had a high somatic mutational load. Analysis of genomic structural variations and copy number variants confirmed the patient's karyotype as 46, XX (SRY +). Additionally, the patient exhibited short stature, small bilateral testes, slightly enlarged breasts, elevated serum alpha-fetoprotein concentrations, elevated follicle-stimulating hormone and luteinizing hormone levels, and low testosterone levels. DISCUSSION: A case of 46, XX disorder of sex development, along with a primary prostatic mixed germ cell tumor, was diagnosed. This diagnosis has contributed to advancing our understanding of the genetic and phenotypic profile of the disease and may provide some insights for its treatment.

Influence of family cohesion on Chinese adolescents' engagement in school bullying: A moderated mediation model.

In this study, a total number of 1,026 Chinese adolescents were surveyed using the cohesion sub-scale of the Family Environment Scale, the Self-control Scale, the Parental Monitoring Questionnaire, and the revised Olweus Bully/Victim Questionnaire to explore the effects of family cohesion on adolescents' engagement in school bullying and the mechanisms of self-control and parental monitoring in the relationship between them. The results showed that: (1) family cohesion, self-control, and parental monitoring were significantly and negatively related to school bullying; (2) family cohesion directly influenced school bullying and also indirectly influenced school bullying through a mediating effect - self-control; (3) parental monitoring played a moderating role in the path of self-control affecting school bullying. Therefore, to reduce the occurrence of school bullying, it is necessary to strengthen the self-control ability of adolescents and improve the family cohesion environment and maintain a moderate level of parental monitoring. The results of this study revealed the effect of family cohesion on adolescents' engagement in school bullying and its mechanism of action, which can provide a theoretical basis for preventing and reducing the occurrence of school bullying incidents.

Wnt gene family members and their expression profiling in Litopenaeus vannamei.

The Wnt gene family encodes secreted glycoproteins involved in a wide variety of biological processes, including embryo development, cell proliferation and differentiation, and tissue regeneration. The Wnt pathway exists in all metazoan animals, however, the relevant research is rare in crustaceans. Here we described 12 Wnt genes representing 12 Wnt gene subfamilies in the Pacific white shrimp, Litopenaeus vannamei. Based on homolog annotations and phylogenetic analyses, we named these 12 Wnt genes as LvWnt1, LvWnt2, LvWnt4-11, LvWnt16, and LvWntA. All the corresponding LvWnt proteins shared a conserved Wnt1 domain and 22 conserved cysteine residues. LvWnt1 and LvWnt6 were adjacent in a scaffold in the shrimp genome. Furthermore, we performed expression analyses of LvWnt genes at different developmental stages, during the molting process, in different tissues and after different pathogenic infection. We showed that each LvWnt gene had a unique expression pattern at different developmental stages but only a few of them expressed in adult shrimp. All the investigated LvWnt genes were initially expressed at the gastrula or limb bud embryo stages. Among them, LvWnt8 was specifically high expressed only in early embryos. LvWntA and LvWnt5 displayed high and similar expression profiles during the molting process, and LvWnt6 and LvWnt16 were specifically expressed in the thoracic ganglion, ventral nerve, intestines and gill tissues, respectively. We also found the expression of LvWntA, LvWnt5, LvWnt6, LvWnt9, and LvWnt16 were varied in the different tissues after infected with Staphylococcus aureus, Vibrio parahaemolyticus and white spot syndrome virus (WSSV), which indicated that they might participate in immune response in L. vannamei. This study provided an insight into the repertoire of the Wnt gene structure and expression in shrimps, and furthermore, might promote the understanding of development, growth and immune response of shrimps and crustaceans.

Actin genes and their expression in pacific white shrimp, Litopenaeus vannamei.

Actin is a multi-functional gene family that can be divided into muscle-type actins and non-muscle-type actins. In this study, 37 unigenes encoding actins were identified from RNA-Seq data of Pacific white shrimp, Litopenaeus vannamei. According to phylogenetic analysis, four and three cDNAs belong to cytoplasmic- and heart-type actins and were named LvActinCT and LvActinHT, respectively. 10 cDNAs belong to the slow-type skeletal muscle actins, and 18 belong to the fast-type skeletal muscle actins; they were designated LvActinSSK and LvActinFSK, respectively. Some muscle actin genes formed gene clusters in the genome. Multiple alternative transcription starts sites (ATSSs) were found for LvActinCT1. Based on the early developmental expression profile, almost all LvActins were highly expressed between the early limb bud and post-larval stages. Using LvActinSSK5 as probes, slow-type muscle was localized in pleopod muscle and superficial ventral muscle. We also found three actin genes that were down-regulated in the hemocytes of white spot syndrome virus (WSSV)- and Vibrio parahaemolyticus-infected L. vannamei. This study provides valuable information on the actin gene structure of shrimp, furthers our understanding of the shrimp muscle system and helps us develop strategies for disease control and sustainable shrimp farming.

Comparative proteomic analysis of colon cancer cell HCT-15 in response to all-trans retinoic acid treatment.

Colon cancer is one of the most common malignances. In vitro and in vivo study show that retinoic acids inhibit a wide variety of cancer cells but the molecular mechanism of their anti-tumor effects are not yet fully understood. Alltrans retinoic acid (ATRA), an isomer of retinoic acid, can inhibit the proliferation of HCT-15 human colon cancer cell line. A proteomic analysis was performed using HCT-15 treated with ATRA to further elucidate the retinoic acid signaling pathway and its anti-tumor effect mechanism. MTT results showed that the growth of HCT-15 cells were significantly inhibited by ATRA. The alkaline phosphatase activity assay showed that ATRA failed to induce the differentiation of HCT-15. The DNA ladder detection showed that ATRA induced apoptosis in HCT-15. Two-dimensional gel electrophoresis coupled with MALDI-TOF/TOF mass spectrometry identified 13 differentially expressed proteins in HCT-15 cells after all-trans retinoic acid treatment. Among the identified differentially expressed proteins, there were four scaffold proteins (YWHAE, SFN, YWHAB, and YWHAZ), two ubiquitin modification related proteins (ISG-15 and UBE2N), two translational initiation factors (EIF1AX and EIF3K), two cytoskeleton related proteins (EZRI and CNN3), two proteinmodification related proteins (TXNDC17 and PIMT), and one enzyme related to phospholipid metabolism (PSP). Both EZRI and UBE2N were rendered to western-blot validation and the results were consistent with the two-dimension electrophoresis analysis. In this study, the differentially expressed proteins in HCT-15 treated by ATRA were identified, which will assist the further elucidation of the anti-tumor mechanism of retinoic acids.