Weinsteinbullock3718

OBJECTIVE/BACKGROUND Retinoblastoma (RB), the most common intraocular malignancy in children, is caused by biallelic inactivation of the human retinoblastoma susceptibility gene (RB1). We are evaluating the impact of the type of RB1 gene mutation on clinical presentation and management outcome. read more METHODS A retrospective case series of 50 patients with RB. Main outcomes were clinical and pathologic features and types of RB1 gene mutations detected using quantitative multiplex polymerase chain reaction (PCR), allele-specific PCR, next-generation sequencing analysis, and Sanger sequencing. RESULTS Twenty (40%) patients had unilateral RB and 30 (60%) had bilateral RB. Overall, 36 (72%) patients had germline disease, 17 (47%) of whom inherited the disease. Of these 17 inherited cases, paternal origin of the RB1 mutation was seen in 15 (88%). The overall eye salvage rate was 74% (n = 49/66; 100% for Groups A + B + C, and 79% for Group D eyes). The most frequent type of mutation was a nonsense mutation generating a stop codon (15/36, 42%). Other mutations that result in a premature stop codon due to deletions or insertions with donor splice site or receptor splice site mutations were detected in 7/36 (19%), 10/36 (28%), and 2/26 (6%) patients, respectively. The remaining two (6%) patients had frameshift mutation. Patients with deletion, acceptor splice site, and frameshift mutations presented with more advanced ICRB (International Classification of Retinoblastoma) stage (75% diagnosed with Group D or E), even though there was no significant difference in eye salvage rate or tumor invasiveness between patients with different types of mutations. CONCLUSION Despite the heterogeneous nature of RB1 gene mutations, tumor stage remains the most important predictive factor for clinical presentation and outcome. Furthermore, acceptor splice site and frameshift mutations are associated with more advanced tumor stage at diagnosis. Lepidopteran insects have potent innate immunity to fight against the invading pathogens. As the initiation step, pattern recognition receptors (PRRs) recognize and bind microbial surface configurations known as pathogen-associated molecular patterns (PAMPs). Aftermath, they initiate both cellular and humoral immune responses, including phagocytosis, agglutination, nodulation, encapsulation, prophenoloxidase activation, and synthesis of antimicrobial peptides. In this review, we summarize the recent findings concerning PRRs in lepidoptaeran insects, mostly agriculture pests including Helicoverpa armigera, Plutella xylostella, and Spodoptera exigua. We mainly focus on the function and phylogeny of C-type lectins (CTLs), peptidoglycan recognition proteins (PGRPs), β-1,3-glucan recognition proteins (βGRPs), and galectins (GALEs). It enriches our understanding of the immune system of lepidopteran insects and provides directions in the future research. Notch signaling, an evolutionarily conserved signal pathway has emerged as a key signal pathway to regulate host immune response but the contribution of Notch signaling to immune response in pigs remains unknown. Infection of porcine alveolar macrophages (PAM) with porcine reproductive and respiratory syndrome virus (PRRSV) triggers expression of Jagged1 mRNA, suggesting that Notch signaling might play a role in the immune response to PRRSV infection. To further explore it, we examined the expression profile of Notch molecules in PAM following a highly pathogenic PRRSV (HP-PRRSV) strain infection. We demonstrated that HP-PRRSV infection resulted in the induction of Notch ligands (Jagged1, Dll3, Dll4), the transcription factor RBP-J, and the target gene Hes1, consistent with activation of Notch signaling. Next, using DAPT treatment and the knockdown of RBP-J illustrated that inhibition of activation of Notch signaling attenuated induction of the inflammatory cytokines (TNF-α and IL-1β) instead of viral replication in PAM during HP-PRRSV infection. Furthermore, the knockdown of Jagged1, the most induced ligand not only inhibited activation of Notch signaling, but also reduced the expression of inflammatory cytokines without any influence in viral replication. Moreover, our data revealed that several signaling including NF-κB, MAPK and Notch signaling contributed to the induction of Jagged1 in PAM during HP-PRRSV infection. In summary, these findings reveal that Notch as an important signaling pathway could contribute to the regulation of inflammatory response induced by HP-PRRSV infection. BACKGROUND Labour pain is an individual experience embedded in a socio-cultural context. In childbirth, the father's involvement provides important support to the mother during labour. However, few published studies have evaluated couples' experiences of paternal involvement and labour pain management in the Chinese context. AIM This study aimed to understand the experience of labour pain management and the father's involvement in childbirth from the perspectives of women and their partners in Hong Kong. METHODS An exploratory qualitative design was adopted. A purposive sample of 45 Chinese parents was recruited at the postnatal unit of a regional hospital. Data were collected through semi-structured face-to-face interviews within 1 month after birth. The data were subjected to content analysis. FINDINGS The findings revealed six major themes the mothers' experience of labour pain, effectiveness of pain relief measures, mothers' perceptions of support from their partners, mothers' perceptions of support from healthcare professionals, fathers' experience of involvement in childbirth and suggested improvements to maternity services. DISCUSSION Chinese mothers experienced intense labour pain and used various pain relief measures. Both parents considered the involvement of fathers and support from healthcare professionals to be highly significant during childbirth. CONCLUSIONS This study highlights the need for a family-centred model of care during childbirth that involves both parents in the decision-making process. Chinese maternity services should implement individualised birth plans that acknowledge both parents' expectations and preferences, thus promoting a positive childbirth experience for the parents.