Mixed presentation of diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic state (HHS) has been reported in up to 27% emergencies. This 15-year retrospective chart review describes clinical features, risk factors, outcomes among children presenting with emergencies at our center. Out 322 patients, 92% were Afro-Caribbean or Black a mean age 13.6 years, comprising 266 (83%) DKA, 52 (16%) mixed DKA-HHS, rarely HHS (1%, n = 4). Most (98%) DKA DKA-HHS groups had type 1 diabetes mellitus...

Introduction: Short stature can lead to physical limitations and socioemotional effects limiting a child parents’ quality of life (QoL). This study investigates the impact hypochondroplasia other genetic causes (ACAN, NPR2 mutations RASopathy) short on QoL. Methods: Parents participants in an ongoing Phase II clinical trial vosoritide children with selected completed Quality Life Stature Youth (QoLISSY) survey. Results from survey domains (Total, Physical, Social, Emotional, Coping, Beliefs,...

Prophylaxis with valganciclovir (VGCV) is used routinely to prevent cytomegalovirus (CMV) infections in at-risk pediatric solid organ transplant (SOT) recipients. However, the rate and factors associated toxicities this population are not well-described. We conducted a retrospective cohort study of children undergoing SOT at our hospital from January 2012-June 2018. evaluated frequency hematologic renal day 15 through 1-year post-SOT relation antiviral exposures, focused on VGCV prophylaxis....

Cytomegalovirus (CMV) is an important cause of morbidity and mortality in pediatric solid organ transplant (SOT) recipients. However, the impact asymptomatic CMV infections (ie, DNAemia) on clinical outcomes not well established.We performed a retrospective cohort study children undergoing first SOT at our institution from January 2012 to June 2018. We evaluated epidemiology multivariable Cox regression assess association between DNAemia without disease or (syndrome end-organ disease)...

Introduction: Vosoritide is a C-type natriuretic peptide (CNP) analog that binds its receptor on chondrocytes, promoting growth by inhibiting the ERK1/2-MAPK pathway. We previously reported results of phase II study in children with hypochondroplasia. led to an average increase annualized height velocity (AHV) 1.81 cm/year and gain 0.36 standard deviation (SD) over 12 months. present here pharmacokinetic/pharmacodynamic (PK/PD) data from this examine correlations between these parameters...

Cytomegalovirus (CMV) is a significant source of morbidity and mortality among transplant recipients; the epidemiology less understood in pediatric hematopoietic cell transplantation (HCT) cohorts. Furthermore, there paucity data related to CMV prophylactic preemptive strategies.A single-center retrospective observational cohort allogeneic HCT recipients at Children's Hospital Philadelphia January 1, 2004-December 31, 2017 was constructed. Subjects were followed for 180 days after determine...

Abstract Information about HAdV infection in SOT recipients is limited. We aimed to describe epidemiology and outcomes a single‐center retrospective cohort during the era of PCR availability. transplanted at CHOP 2004‐2013 were followed up for 180 days post‐transplant. was defined as positive from clinical specimen. disease by organ‐specific radiologic and/or laboratory abnormalities. No surveillance protocols employed study period; testing solely per clinician discretion. Progression or...

Glucocorticoids are standard of care for patients with Duchenne muscular dystrophy (DMD). Although prolonged exposure is associated multiple endocrine side effects, current guidelines related to monitoring and management endocrinopathies suboptimal. We aim explore community perceptions complications in DMD, assess level understanding, desire further education. A 31-item online survey was sent through Parent Project Muscular Dystrophy (PPMD) Registry members be completed by or their...

Abstract Objective Serum Anti‐Mullerian Hormone (AMH) concentrations have been proposed as a marker of spontaneous puberty and future fertility in Turner syndrome (TS). Gonadotropins during minipuberty may also provide clue to ovarian function but there is insufficient data inform utility the routine clinical management TS. Our objective was describe distribution AMH cross‐sectional cohort patients TS specialty clinic, correlate with karyotype, well gonadotropins infancy smaller subset aged...

Presented here are three patients who have a common chief complaint. All cases discussions on presentation, the differential diagnosis, and management that collectively serve as Review article. Following cases, an expert weighs in short commentary with 5 questions for CME credit.A previously healthy, 40-day-old girl presents 1 day of fever (100.8°F [38.2°C]). She is sleeping more than usual having frequent bowel movements but normal consistency. has no cough, congestion, eye redness,...

Bilateral Adrenal Hyperplasias (BAH) are responsible for approximately 10% of ACTH-independent Cushing syndrome and classified as either micronodular or macronodular. Whereas Primary Pigmented Nodular Adrenocortical Disease (PPNAD) isolated Micronodular (iMAD) subtypes hyperplasia, Macronodular Hyperplasia (PMAH) is the most common form macronodular BAH. These tumors differently based on clinical, histological genetic features but they all share a dysregulation cyclic AMP/protein kinase...

Abstract Background Human adenovirus (HAdV) is a documented source of morbidity and mortality after hematopoietic cell transplant (HCT); however, there are limited data documenting HAdV species type in this population. Understanding the molecular characteristics could inform development assessment interventions. The HAdV-positive specimens detailed using an archived convenience sample obtained pediatric HCT recipients. Methods cohort included autologous allogeneic recipients between January...

Abstract Background Data on cytomegalovirus (CMV) infection and disease by donor (D)/recipient (R) status or prophylaxis regimen in pediatric hematopoietic cell transplant (HCT) recipients are limited. There is an absence of data adverse events (AE) attributable to prophylaxis. Methods A single-center cohort (N = 352) allogeneic HCT episodes between January 2004 June 2017 was assembled. Exclusion criteria were CMV PCR positivity 30 days before HCT, lack surveillance (<2 blood PCRs the...

Abstract Background Our institution provides universal CMV prophylaxis (PPX) for all high (D+/R-) and medium risk (R+) solid-organ transplant (SOT) recipients. We sought to evaluate this practice by assessing infection disease within the first year of SOT. Methods Retrospective cohort study children undergoing SOT at Children’s Hospital Philadelphia from January 2012 October 2017. identified recipients with (detection DNA in body fluid/tissue or without symptoms) (symptomatic tissue-invasive...

Abstract Background Ganciclovir (GCV) and valganciclovir (VGCV) are used for prophylaxis (PPX) treatment CMV in pediatric solid organ transplant (SOT) recipients, but the frequency impact of toxicities from these medications not well described. Methods Retrospective cohort study children undergoing SOT at Children’s Hospital Philadelphia Jan 2012 - Jun 2018. EMR were reviewed to identify laboratory-based between 15 days 1 year post-transplant; medication management within 14 toxicity onset...

Abstract Introduction: Hyperglycemic emergencies in children with diabetes traditionally include diabetic ketoacidosis (DKA) predominantly associated T1DM, whereas hyperosmolar hyperglycemic state (HHS) that is relative insulin deficiency T2DM, rarely occurs (2%). There have been increasing reports of mixed DKA-HHS affecting up to 27%. The purpose this study identify clinical features, risk factors, complications and outcomes among minority presenting at our center. Methods: This a...