Communication in Young Children with Fragile X Syndrome: A Qualitative Study of Mothers’ Perspectives

Purpose: The purposes of the study were to provide descriptive and qualitative information about communication in young children with fragile X syndrome (FXS) and about how families react to and accommodate communication differences in their children. Method: In-depth interviews were conducted with 55 mothers of young children with FXS. Interviewers asked mothers to describe their children’s communication, strategies they used to help promote their children’s communication, communication-related frustrations, their expectations for their children and the roles that they perceive for themselves. Results: Over half the children were nonverbal and learning to communicate with augmentative or alternative communication (AAC). Mothers reported using strategies that were developmentally appropriate and recommended by early childhood experts, such as reading and talking to their children. Many mothers identified challenges faced in helping their child to communicate, and some cited difficulty obtaining speech-language services as a challenge. Mothers identified their roles as caregiver, teacher, therapist and advocate. Conclusions: The perspectives offered by mothers are valuable because they indicate how children with FXS communicate in natural contexts. Information about mothers’ expectations and roles may help clinicians to be sensitive to variables that will impact working with young children and their families.NIH P30 HD003110-38S1NIH P30 HD0252

A pilot study of stereotactic body radiation therapy (SBRT) after surgery for stage III non-small cell lung cancer

Abstract Background Standard therapy for stage III non-small cell lung cancer with chemotherapy and conventional radiation has suboptimal outcomes. We hypothesized that a combination of surgery followed by stereotactic body radiation therapy (SBRT) would be a safe alternative. Methods Patients with stage IIIA (multistation N2) or IIIB non-small cell lung cancer were enrolled from March 2013 to December 2015. The protocol included transcervical extended mediastinal lymphadenectomy (TEMLA) followed by surgical resection, 10 Gy SBRT directed to the involved mediastinum/hilar stations and/or positive surgical margins, and adjuvant systemic therapy. Patients not suitable for anatomic lung resection were treated with 30 Gy to the primary tumor. The primary efficacy end-point was the proportion of patients with grade 3 or higher adverse events (AE) or toxicities. Results Of 10 patients, 7 patients underwent neoadjuvant chemotherapy. All patients had TEMLA. Nine of 10 patients underwent surgical resection. The remaining patient had an unresectable tumor and received 30 Gy SBRT to the primary lesion. All patients had post-operative SBRT. Median follow-up was 18 months. There were no perioperative mortalities. Six patients had any grade 3 AEs with no grade 4–5 AEs. Of these, 4 were not attributable to radiation. Pulmonary-related grade 3 AEs were experienced by 2 patients. There were no failures within the 10 Gy volume. Overall survival and progression-free survival rates at 2 years were 68% (90% CI 36–86) and 40% (90% CI 16–63), respectively. Conclusions In carefully selected patients with locally advanced non-small cell lung cancer, combining surgery with SBRT was well tolerated with no local failure. Trial registration ClinicalTrials.gov identifying number NCT01781741. Registered February 1, 2013

Peptidoglycan editing provides immunity to Acinetobacter baumannii during bacterial warfare

Peptidoglycan (PG) is essential in most bacteria. Thus, it is often targeted by various assaults, including interbacterial attacks via the type VI secretion system (T6SS). Here, we report that the Gram-negative bacterium Acinetobacter baumannii strain ATCC 17978 produces, secretes, and incorporates the noncanonical D-amino acid D-lysine into its PG during stationary phase. We show that PG editing increases the competitiveness of A. baumannii during bacterial warfare by providing immunity against peptidoglycan-targeting T6SS effectors from various bacterial competitors. In contrast, we found that D-Lys production is detrimental to pathogenesis due, at least in part, to the activity of the human enzyme d-amino acid oxidase (DAO), which degrades D-Lys producing H2O2 toxic to bacteria. Phylogenetic analyses indicate that the last common ancestor of A. baumannii had the ability to produce D-Lys. However, this trait was independently lost multiple times, likely reflecting the evolution of A. baumannii as a human pathogen