Orlando Health Arnold Palmer Hospital for Children is a 158-bed pediatric hospital in Orlando, Florida, United States. Arnold Palmer Hospital is part of Orlando Health, and is supported by the Arnold Palmer Medical Center Foundation. Together, the Arnold Palmer Hospital for Children and the Winnie Palmer Hospital for Women & Babies form the Arnold Palmer Medical Center. Arnold Palmer Hospital for Children is also home to the Howard Phillips Center for Children & Families.The Bert Martin's Champions for Children Emergency Department & Trauma Center at Arnold Palmer Hospital is part of the only Level One Trauma Center in the area[a]As of the 2016-2017 rankings, Arnold Palmer Hospital is nationally ranked as a “Best Children’s Hospital” by U.S. News & World Report in five pediatric specialties - cardiology & heart surgery, diabetes & endocrinology, gastroenterology & GI surgery, orthopedics and urology.Arnold Palmer Hospital for Children has affiliations with Camp Boggy Creek, Children's Miracle Network, the Florida Association of Children's Hospitals, Give Kids the World, the Make-A-Wish Foundation, the National Association of Children's Hospitals and Related Institutions, and the Ronald McDonald House.
BACKGROUND:In children with Chiari type I malformation and syringomyelia, neurosurgical posterior fossa decompression (PFD) provides clinical improvement, but whether duraplasty (incising the dura and placing a dural graft) improves outcomes is unclear. METHODS:We conducted a multicenter, cluster-randomized, controlled trial of PFD with duraplasty (PFD-D) as compared with PFD alone. Persons 21 years of age or younger with cerebellar tonsillar ectopia of at least 5 mm and a maximum syrinx diameter of 3.0 to 9.9 mm were enrolled at 38 centers. Centers were cluster-randomized: all the participants within each center underwent the same intervention. The primary outcome was surgical complications within 6 months. Secondary outcomes were clinical improvement, syrinx reduction, and repeat decompression at 10 to 24 months and the change in overall health-related quality of life at 6 to 24 months. RESULTS:A total of 162 participants were included in the trial, of whom 78 were assigned to undergo PFD-D and 84 to undergo PFD alone. The percentage of participants with complications within 6 months was 14% with PFD-D and 6% with PFD (adjusted odds ratio, 2.59; 95% confidence interval [CI], 0.86 to 7.84; P = 0.11). At 24 months, the percentage of participants with clinical improvement was 58% with PFD-D and 46% with PFD; the mean (±SD) syrinx reduction was 3.08±2.33 mm and 1.22±1.79 mm, respectively; and the percentage of participants with repeat decompression was 3% and 14%. Changes in health-related quality of life were similar in the two groups. CONCLUSIONS:The percentage of participants with surgical complications did not differ significantly between those who underwent PFD-D and and those who underwent PFD alone. Larger trials are needed to determine the relative benefits and risks of these two procedures. (Funded by the Patient-Centered Outcomes Research Institute and others; ClinicalTrials.gov number, NCT02669836.).
Paediatric kidney tumours are generally associated with a favourable survival rate. Most children are diagnosed with Wilms tumour, which has a 90
INTRODUCTION:Despite available prophylactic therapies for haemophilia A, breakthrough bleeding and consequent pain and joint damage still occur. AIM:To provide insights into the unmet treatment needs of people with moderate-to-severe haemophilia A in the US. METHODS:For this descriptive, observational cohort study, eligible participants diagnosed with moderate-to-severe haemophilia A were enrolled in the PicnicHealth database on or before 3 October 2022. Three patient groups were established to identify: (1) treatment patterns; (2) clinical outcomes by therapy class (standard half-life [SHL] factor VIII [FVIII]; extended half-life FVIII [EHL]; emicizumab); (3) health-related quality of life (HRQoL) using the Patient-Reported Outcomes Measuring Instruments System (PROMIS)-29 survey and a supplemental pain survey. Patients switching treatment classes were included in multiple treatment groups. RESULTS:Of 211 participants in the 'treatment patterns population', 123 (58.3%) used SHL FVIII prophylaxis, 81 (38.4%) EHL FVIII prophylaxis, and 83 (39.3%) emicizumab prophylaxis. In the 'clinical outcomes population', 63 participants (70.8%) receiving SHL, 43 (61.4%) EHL and 36 (62.1%) emicizumab had ≥1 bleed at Year 1. Pain-related events within the past year occurred in 18 (12.8%), 16 (18.2%) and 10 (12.2%) participants, respectively. The most frequent patient-reported symptoms were 'sleep disturbance' (84.5%), 'inability to participate in social roles and activities' (69.7%) and 'fatigue' (66.9%). The most impacted PROMIS scores were anxiety and pain interference. CONCLUSION:Regardless of the prophylaxis product class used, most participants experienced ≥1 bleeding event per year and reduced QoL. Further treatment optimisation may be needed to prevent bleeding episodes and improve patient QoL.
OBJECTIVES:To discover distinct clusters of morphologic features within the spectrum of complete atrioventricular septal defect (cAVSD) among children who underwent biventricular repair (BVR), and determine their association with post-repair mortality and left atrioventricular valve (LAVV) reintervention. METHODS:From 1/1/2012 to 7/1/2024, 685 children with cAVSD enrolled across 34 Congenital Heart Surgeons' Society hospitals underwent BVR and had core laboratory analysis of a preintervention echocardiogram. Morphologic clusters were identified by unsupervised staggered interaction distance clustering. Median follow-up for mortality and LAVV reintervention was 4.1 and 3.3 years, with 10% of each followed >8.4 and >7.7 years, respectively. RESULTS:Four clusters-B, D, C, A-were identified: Median common atrioventricular valve (AVV) diameter closed at end-diastole was 8.6 cm/m2 in B (n=136), 10 in D (n=224), 11 in C (n=156), and 12 in A (n=169). Hearts in B had lower indices of left ventricular constituents: length from AVV to apex 11 cm/m2 versus 12 in D, 13 in C, and 14 in A. Mortality at 1 and 8 years was 5.5% and 9.1% in B, 5.4% and 6.9% in D, 4.6% and 9.7% in C, and 4.5% and 11% in A. LAVV reintervention at 1 and 8 years was 8.4% and 14% in B, 7.4% and 15% in D, 9.3% and 14% in C, and 6.7 and 15% in A. CONCLUSIONS:Preintervention echocardiographic features identify 4 morphologic clusters of cAVSD. Associations with survival and LAVV reintervention after BVR provide knowledge that may guide decision-making in surgical management of "borderline" hearts.
PURPOSE:TCF7L2 (OMIM 602228; HGNC:11641) is a transcription factor and a critical effector of the Wnt/ β-Catenin pathway. In 2021, 11 pediatric patients with monoallelic predicted loss-of-function (pLOF) TCF7L2 variants and syndromic features were observed. Characterization of patients with pLOF TCF7L2 variants and neurodevelopmental features-herein referred to as TCF7L2-related neurodevelopmental disorder-is urgently needed. METHODS:We leveraged multiple methods (eg, GeneMatcher, DECIPHER, literature review, and public/private repositories) to identify an international cohort of 76 patients with pLOF TCF7L2 variants and neurodevelopmental features and phenotypically characterized them. We also retrospectively searched for an independent cohort of adults with pLOF TCF7L2 variants (n = 11) from more than 60,000 PennMedicine BioBank patients. RESULTS:Among 76 patients with pLOF TCF7L2 variants, speech delay (95.3%), craniofacial dysmorphisms (73.3%), ophthalmologic conditions (65.5%), autism (62.1%), and orthopedic abnormalities (52.6%) were the most commonly observed. Phenotypic differences did not cluster by variant type or genomic locus. Among PennMedicine BioBank patients, an association of nominal significance with type 2 diabetes with renal manifestations (odds ratio = 5.8; P = .03) was detected, warranting further investigation. CONCLUSION:This study represents the most comprehensive characterization of TCF7L2-related neurodevelopmental disorder to date, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectra. We opened a Simons Searchlight natural history study that is now available for patient enrollment to enhance the understanding of this condition.
