01/21/2025


The frequency of autistic traits in the entire group was a continuum. We did not identify any risk factor for ASD but found a negative correlation between the ADI-R score and adaptive functioning level. Among 48 participants with data for the DBC-P, 26 (55%) had behavioral disorders, which were more frequent in patients with radiological brain anomalies, impaired adaptive functioning, later independent walking, and more sensory particularities. Conclusions ASD should be considered to be an independent risk requiring early screening and management in children born with CHARGE syndrome.BCOR has been recognized as a recurrently altered gene in a subset of pediatric tumors of the central nervous system (CNS). https://www.selleckchem.com/products/ve-822.html Here, we describe a novel BCOR-CREBBP fusion event in a case of pediatric infiltrating astrocytoma and further probe the frequency of related fusion events in CNS tumors. We analyzed biopsy samples taken from a 15-year-old male with an aggressive, unresectable and multifocal infiltrating astrocytoma. We performed RNA sequencing (RNA-seq) and targeted DNA sequencing. In the index case, the fused BCOR-CREBBP transcript comprises exons 1-4 of BCOR and exon 31 of CREBBP. The fused gene thus retains the Bcl6 interaction domain of BCOR while eliminating the domain that has been shown to interact with the polycomb group protein PCGF1. The fusion event was validated by FISH and reverse transcriptase PCR. An additional set of 177 pediatric and adult primary CNS tumors were assessed via FISH for BCOR break apart events, all of which were negative. An additional 509 adult lower grade infiltrating gliomas from the publicly available TCGA dataset were screened for BCOR or CREBBP fusions. In this set, one case was found to harbor a CREBBP-GOLGA6L2 fusion and one case a CREBBP-SRRM2 fusion. In a third patient, both BCOR-L3MBTL2 and EP300-BCOR fusions were seen. Of particular interest to this study, EP300 is a paralog of CREBBP and the breakpoint seen involves a similar region of the gene to that of the index case; however, the resultant transcript is predicted to be completely distinct. While this gene fusion may play an oncogenic role through the loss of tumor suppressor functions of BCOR and CREBBP, further screening over larger cohorts and functional validation is needed to determine the degree to which this or similar fusions are recurrent and to elucidate their oncogenic potential.Background To protect children's right to optimal nutrition, WHO/UNICEF developed a Global Strategy for Infant and Young Child Feeding, endorsed by all 53 WHO/EURO Member States. The World Breastfeeding Trends Initiative (WBTi) is a tool for monitoring implementation of the Global Strategy. It comprises 15 indicators, ten referring to policies and programmes, and five to feeding practices. Each is scored on a scale of 10, giving a total score of 150 for Global Strategy implementation. To date, 18 WHO/EURO Member States - Armenia, Austria, Belgium, Bosnia and Herzegovina, Croatia, France, Georgia, Germany, Italy, Lithuania, North Macedonia, Malta, Moldova, Portugal, Spain, Turkey, Ukraine and United Kingdom - have conducted a WBTi assessment and produced a report. Methods Between June 2018 and May 2019, all 18 WBTi European reports were carefully read and analysed by a group of national WBTi coordinators. Descriptive data analysis, including inter-country comparisons, was conducted using frequencies and percenfeeding practices. Political commitment at the highest level and adequate funding are required to ensure optimal IYCF for Europe's babies. This report highlights worrying gaps, thereby providing governments, international organisations and other concerned parties with an opportunity to invest in priority areas and, by doing so, hopefully create a better future for our babies.Insulin-like growth factors (IGFs) play important roles in mammalian growth, development, aging, and diseases. Aberrant IGFs signaling may lead to malignant transformation and tumor progression, thus providing the rationale for targeting IGF axis in cancer. However, clinical trials of the type I IGF receptor (IGF-IR)-targeted agents have been largely disappointing. Accumulating evidence demonstrates that the IGF axis not only promotes tumorigenesis, but also confers resistance to standard treatments. Furthermore, there are diverse pathways leading to the resistance to IGF-IR-targeted therapy. Recent studies characterizing the complex IGFs signaling in cancer have raised hope to refine the strategies for targeting the IGF axis. This review highlights the biological activities of IGF-IR signaling in cancer and the contribution of IGF-IR to cytotoxic, endocrine, and molecular targeted therapies resistance. Moreover, we update the diverse mechanisms underlying resistance to IGF-IR-targeted agents and discuss the strategies for future development of the IGF axis-targeted agents.Background The involvement of Besnoitia bennetti in skin pathologies was investigated in a series of 20 donkeys from the Donkey Sanctuary in England, in the 2013-2019 period. Methods The initial histopathological finding of Besnoitia cysts in skin lumps that were presumed to be sarcoids in 2013 triggered our cognisance of this parasite and resulted in identification of a total of 20 cases. Histopathological examination of surgical biopsy samples collected from 8 live donkeys and tissue specimens from 12 deceased donkeys at post-mortem examination revealed the presence of Besnoitia cysts in all 20 donkeys. The indirect fluorescent antibody test (IFAT) and immunoblotting analysis showed the presence of anti-Besnoitia antibodies in archived serum samples from 4 deceased donkeys. Additionally, infection was evidenced in one live donkey based on IFAT and immunoblot analysis of tissue fluid of a dermal mass containing Besnoitia cysts, and real-time (RT)-PCR analysis and microsatellite genotyping of DNA isolated from the tissue of the same dermal mass confirmed the infection specifically as B. bennetti. Results Both serological and microsatellite analyses confirmed the aetiology to be B. bennetti. Our findings suggested that in cases of skin masses such as sarcoids, the suspicion of B. bennetti infection should be borne in mind even when clinical and histopathology examination results are negative in order to avoid misdiagnosis. Conclusions This case series documents, to our knowledge, the first report of B. bennetti infection in donkeys in the UK, indicating that donkey besnoitiosis has become noteworthy in the UK. Further investigations of the occurrence, epidemiological characteristics, and clinical manifestations of B. bennetti infection in donkeys and other equids are warranted.