Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype-phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic.

Advancing the Science and Practice of Training and Technical Assistance to Improve the Equitable Implementation of Evidence-Based Practices.

Health inequities in the US are greater than those in other industrialized countries and have shown little improvement over the past 20 years. Training and technical assistance centers (TTACs) could be a potential mechanism to address inequities, but to date, have lacked an explicit equity-focus. In this paper we describe how to apply equitable implementation strategies when using an evidence-based training and technical assistance process (Getting To Outcomes) and offer the Health Equity Interactive Systems Framework to support the dissemination and implementation of readily applicable equitable implementation strategies.

Pediatric sporadic Burkitt lymphoma of the head and neck: A case series and analysis of national trends.

Objective: Burkitt lymphoma (BL) is an aggressive form of non-Hodgkin lymphoma with the sporadic subtype being predominant in North America. The clinical presentations and outcomes of pediatric BL within the head and neck were assessed using both an institutional case series and the Surveillance, Epidemiology, and End Results (SEER) Cancer database.

Methods: The electronic medical record at our quaternary children's hospital was queried over a 22-year period (2000-2022) for BL patients with head and neck manifestations.

Clinician perspectives on delivering primary and specialty palliative care in community oncology practices.

Purpose: Clinical guidelines recommend early palliative care for patients with advanced lung cancer. In rural and underserved community oncology practices with limited resources, both primary palliative care from an oncologist and specialty palliative care are needed to address patients' palliative care needs. The aim of this study is to describe community oncology clinicians' primary palliative care practices and perspectives on integrating specialty palliative care into routine advanced lung cancer treatment in rural and underserved communities.