This case series plus review seeks to describe the clinical characteristics and pathophysiology of VM among individuals with the fragile X premutation. We also seek to discuss treatment and future steps in addressing VM in this population.
Project Baby Bear was a prospective quality improvement project which demonstrated the clinical utility and economic impact of ultrarapid or rapid whole genome sequencing (rWGS) in neonatal and pediatric intensive care units for Medi-Cal beneficiaries. This study found that rWGS provided a diagnosis for 40% of the patients and changed medical care for 32% of them. However, there is limited information on the long-term clinical outcomes and follow up of these individuals.
Rhabdoid tumor of the kidney (RTK) is a rare but aggressive cancer that occurs in infancy and early childhood.[1] Current treatment protocols for RTK included a combination of surgery, radiation therapy, and chemotherapy, however the prognosis remains poor with a 5-year survival between 20-25%.[1] Therefore, the need to develop therapeutic strategies to treat RTK is still greatly unmet. High dependence on glycolysis by cancer cells, known as the Warburg effect [2], demonstrates a weakness that can be harnessed to target cancer cells and provides rationale for exploring antiglycolytic approaches for targeting cancer cells. Glyceraldehye-3-phosphate dehydrogenase (GAPDH) is an essential enzyme within the glycolysis pathway (Figure 1) making GAPDH a potential therapeutic target for inhibiting tumor growth and progression [3]. Aspergillus oryzae is a probiotic fungus that is used in the production of Japanese fermented food, including soybean paste and soy sauce. Heptelidic acid (HA) is a sesquiterpene lactone derived from A. oryzae and has recently been shown to exert antitumor effects against multiple cancers including pancreatic and extraintestinal melanomas. [4,5] HA is a specific and irreversible inhibitor of GAPDH.[6] Its GAPDH inhibition activity is shown to contribute to its antitumor effects. [4,5]. The purpose of this study is to assess the therapeutic potential of HA on RTK. This study gives the first evidence that HA shows cytotoxicity in RTK and provides rationale to ultimately develop a therapy using HA for RTK.
Transition to adulthood is a challenging process that is especially difficult for youth with neurodevelopmental disorders (NDD) and their caregivers. Due to transition age youth with NDD having complex medical and behavioral health needs, youth and their caregivershave to navigate several systems of care to support them. Despite these challenges, there has been limited research into the needs of this population during transition to adulthood from a quality improvement perspective.
Previous studies have documented that children with newly diagnosed epilepsy often exhibit various behavioral comorbidities such as anxiety, depression, aggressive behavior, and attention that affect many aspects of their life including academic performance. Furthermore, these studies have identified distinct behavioral phenotype groups but have not investigated the trajectory of each of these groups over time. In this study we explore the presence and trajectory of behavior and academic performance in children with newly diagnosed epilepsy and their siblings over a 36-month period.
1. Test existing adult-validated predictive models of CAR associatedtoxicities in pediatric patients with B-ALL including the M-EASIX and CAR-HEMATOTOX model.
2. To determine if the M-EASIX and CAR-HEMATOTOX model can predict post-CAR outcomes including:• CRS and CRS Maximum Grade• ICANS and ICANS Maximum Grade
Psychosocial support is an important piece of the recovery for pediatric gunshot victims. We wanted to see how many of our pediatric patients who are victims of gun violence have had psychosocial issues and how many received psychosocial support.
Pediatric cervical spine injury (PCSI) can result in devastating neurologic disability. Prompt and accurate diagnosis of PCSI is an essential component of trauma care (1). While computed tomography (CT) imaging is both sensitive and specific in detecting clinically significant injuries, indiscriminate utilization can lead to unnecessary ionizing radiation exposure. During a routine trauma audit process in 2019, we observed a high CT utilization rate of 54%, and CT’s were appropriately obtained only 46% of the time. In response, and in conjunction with newer published guidelines (2), we updated our institutional PCSI protocol. The updated protocol was developed in a consensus-based process among trauma stakeholders and came into effect February 2022.
Methamphetamine use has been increasing across the country, including among persons of childbearing agePrenatal exposure to methamphetamine has been associated with growth restriction in infants.
We aim to assess implementation of our revisedinstitutional guidelines pertaining to:(1) Initial empiric antibiotic givenAmpicillin/amoxicillin are first-line for healthy, fullyimmunizedchild; use of broad-spectrum antibiotic isdependent on various factors (Table 3)(2) Time to antibiotic de-escalationAppropriate de-escalation from a broad- to narrowspectrumantibiotic is ≤72 hours(3) Total antibiotic durationAppropriate duration of antibiotic therapy is 5-7 days
