Dataset Information

Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study.

ABSTRACT: The purpose of this study was to assess the long-term natural history of choroidal abnormalities (CAs) in a large pediatric neurofibromatosis type 1 (NF1) population, quantifying their progression in number and dimensions. Pediatric patients (<16 years old) affected by NF1 with a minimum follow-up of 3 years with at least one CA in one eye were consecutively recruited. Near-infrared (NIR) imaging was performed to identify CAs, which were quantified in number and size. The CAs area and perimeter were normalized for the optic disc dimensions to avoid possible bias related to the growing process of the eye. Ninety-nine eyes of 53 patients were evaluated. The CAs number, area and perimeter significantly increased during follow-up (p < 0.0001 for each parameter). The patient age at baseline was inversely correlated with the CAs number over time (coefficient = -0.1313, p = 0.0068), while no correlation was found between the patient age and CAs progression in size. In conclusion, we provide evidence that, in NF1 pediatric patients, CAs change over time, increasing both in number and dimensions, independently from the physiological growth of the eye. While the increase of the CAs number occurs particularly at an earlier age, the increase in the CAs dimensions is a slow process that remains constant during childhood.

SUBMITTER: Cosmo E

PROVIDER: S-EPMC8946817 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study.

Cosmo Eleonora E Frizziero Luisa L Miglionico Giacomo G De Biasi Chiara Sofia CS Bruno Marisa M Trevisson Eva E Gabbiato Ilaria I Midena Giulia G Parrozzani Raffaele R

Cancers 20220310 6

The purpose of this study was to assess the long-term natural history of choroidal abnormalities (CAs) in a large pediatric neurofibromatosis type 1 (NF1) population, quantifying their progression in number and dimensions. Pediatric patients (<16 years old) affected by NF1 with a minimum follow-up of 3 years with at least one CA in one eye were consecutively recruited. Near-infrared (NIR) imaging was performed to identify CAs, which were quantified in number and size. The CAs area and perimeter ...[more]

PMID: 35326581

Similar Datasets

Project description:PurposeTo describe in detail the central retinal structure of a large group of patients with choroideremia (CHM).DesignA prospective, cross-sectional, descriptive study.ParticipantsPatients (n = 97, age 6-71 years) with CHM and subjects with normal vision (n = 44; ages 10-50 years) were included.MethodsSubjects were examined with spectral-domain optical coherence tomography (SD OCT) and near-infrared reflectance imaging. Visual acuity (VA) was measured during their encounter or obtained from recent ophthalmic examinations. Visual thresholds were measured in a subset of patients (n = 24) with automated static perimetry within the central regions (±15°) examined with SD OCT.Main outcome measuresVisual acuity and visual thresholds; total nuclear layer, inner nuclear layer (INL), and outer nuclear layer (ONL) thicknesses; and horizontal extent of the ONL and the photoreceptor outer segment (POS) interdigitation zone (IZ).ResultsEarliest abnormalities in regions with normally appearing retinal pigment epithelium (RPE) were the loss of the POS and ellipsoid zone associated with rod dysfunction. Transition zones (TZs) from relatively preserved retina to severe ONL thinning and inner retinal thickening moved centripetally with age. Most patients (88%) retained VAs better than 20/40 until their fifth decade of life. The VA decline coincided with migration of the TZ near the foveal center. There were outer retinal tubulations in degenerated, nonatrophic retina in the majority (69%) of patients. In general, RPE abnormalities paralleled photoreceptor degeneration, although there were regions with detectable but abnormally thin ONL co-localizing with severe RPE depigmentation and choroidal thinning.ConclusionsAbnormalities of the POS and rod dysfunction are the earliest central abnormalities observed in CHM. Foveal function is relatively preserved until the fifth decade of life. Migration of the TZs to the foveal center with foveal thinning and structural disorganization heralded central VA loss. The relationships established may help outline the eligibility criteria and outcome measures for clinical trials for CHM.

Project description:BackgroundBurnout is known to be high amongst physician trainees. Factors such as stress, fatigue, social environment, and resilience could affect burnout. Cross-sectional data describe burnout in pediatric residents, but the trajectory of burnout in a cohort of residents followed longitudinally through the full course of residency training has not been reported. We prospectively examined the prevalence and trajectory of burnout, stress, fatigue, social connectedness, and resilience in a pediatric resident cohort from orientation through three years of residency. The cohort (N = 33) was surveyed six times between 2015-2018 using the Abbreviated Maslach Burnout Inventory (AMBI), Perceived Stress Scale (PSS), Epworth Sleepiness Scale (ESS), Social Connectedness Scale-Revised (SCS-R), and Connor-Davidson Resilience Scale (CD-RISC10). Data were analyzed using repeated measures mixed effects models. Significant change from baseline was considered to be adjusted p < 0.05. Response rate was >50% at each timepoint; 69% of trainees completed surveys ≥4 times. Scores were significantly worse than baseline in all surveys, at every timepoint, with the exception of AMBI-PA (personal accomplishment) at the PGY1/PGY2 transition and SCS-R and CD-RISC10 at the end of training. The most significant changes from baseline occurred mid-PGY1 to mid-PGY2. At least 65% of residents demonstrated worse scores than baseline on 36/40 (90%) follow-up surveys. Furthermore, ≥65% met criteria for emotional exhaustion and moderate stress at every timepoint. SCS-R was the only survey measure to improve at residency completion compared to baseline.ConclusionWithin 6 months of starting residency this pediatric resident cohort became burned out, stressed, fatigued, less socially connected, and less resilient. Burnout is only one factor that indicates impaired resident well-being. To fully address this, a comprehensive examination of how residents are trained is needed to identify effective interventions.AbbreviationsMBI - Maslach Burnout Inventory; AMBI - Abbreviated Maslach Burnout Inventory; AMBI-EE - Emotional Exhaustion; AMBI-D - Depersonalization; AMBI-PA - Personal Accomplishment; AMBI-SAT - Satisfaction with Medicine; LCH - Ann & Robert H. Lurie Children's Hospital of Chicago/Lurie Children's Hospital; P/CN - Pediatrics/Child Neurology; PSS - Perceived Stress Scale; ESS - Epworth Sleepiness Scale; CD-RISC10 - Resilience; SCS-R - Social Connectedness Scale Revised; PGY - Post-Graduate Year.

Project description:ImportanceThe incidence and natural history of large vessel occlusion (LVO) stroke in children is largely unknown. These knowledge gaps limit the uptake of reperfusion therapies and reduce the efficiency of pediatric acute stroke pathways.ObjectiveTo determine the incidence and natural history of pediatric LVO stroke.Design, setting, and participantsThis retrospective population-based cohort study was conducted between January 2010 and December 2019, with a mean (SD) follow-up of 37.0 (28.8) months. Admissions from all pediatric hospitals in the state of New South Wales, Australia, with a final diagnosis of arterial ischemic stroke (AIS) in patients 1 month to younger than 17 years were included. A total of 85 of 251 identified cases were excluded based on selection criteria. Data were analyzed from July 2020 to June 2021.ExposuresOne-third of patients with LVO received mechanical thrombectomy with or without intravenous thrombolysis while the remainder were treated conservatively.Main outcomes and measuresThe primary outcome was the pediatric modified Rankin Scale (ped-mRS) score 3 months after stroke. Ordinal logistic regression was used to compare non-LVO, LVO without thrombectomy, and LVO with thrombectomy groups.ResultsOf 161 included patients, 56 (34.8%) were female, and the mean (SD) age was 6.1 (5.4) years. A total of 166 AIS admissions were studied, and clinical follow-up was available for 164 of 166 admissions. LVO was present in 39 admissions (23.5%). The incidence of LVO stroke was 0.24 per 100 000 patients per year (95% CI, 0.13-0.35). Patients with LVO who did not receive thrombectomy (n = 26) had poor neurological outcomes, with 19 (73.1%) experiencing moderate to severe disability or death (ped-mRS score of 3 to 6) at 3 months (6 of 12 patients receiving thrombectomy [50.0%]; 25 of 38 patients with LVO [65.8%]). Patients with LVO without thrombectomy had significantly worse clinical outcomes than patients with non-LVO at 3 months (odds ratio, 3.64; 95% CI, 1.68-7.87; P = .001). Most patients with LVO presented within time windows suitable for thrombectomy (27 of 39 [69.2%] within 6 hours; 35 of 39 [89.7%] within 24 hours).Conclusions and relevanceIn this population-based cohort study, the natural history of pediatric patients with LVO stroke treated conservatively was poor, with most experiencing lifelong disability or death. Nearly 90% of pediatric patients with LVO presented within time windows suitable for thrombectomy.

Project description:Normocalcemic hyperparathyroidism (NHPT) is variably defined, and information regarding complications and natural history are scarce. We aimed to describe the phenotype of NHPT in relation to hypercalcemic hyperparathyroidism (PHPT) and controls, to determine risk of progression, and to develop a predictive model for progression to PHPT. This is a retrospective chart review of 232 patients at a tertiary medical center, comparing 75 controls, 73 patients with NHPT, and 84 with PHPT. NHPT was intermediate in biochemical profile between controls and PHPT with respect to cCa, iPTH, intraindividual coefficient of variant of cCa, phosphorus, and 25(OH)D. NHPT patients had an increased adjusted risk of urolithiasis (OR 5.34, 95%CI, 2.41-12.71, P < .001) and fragility fractures (OR 4.53, 95%CI, 1.63-14.84, P = .006) versus controls, after adjustment for age, sex, and BMI. Fewer NHPT compared with PHPTH patients achieved cure with parathyroidectomy (P = .001). NHPT more often had nonlocalizing imaging or polyglandular disease (P = .005). Parathyroidectomy improved biochemical but not BMD parameters in NHPT. Over a median follow-up of 4.23 (IQR 1.76-5.31) years, NHPT patients managed expectantly experienced no change in iPTH, and progression to PHPT occurred in 9%. An XGBoost model combining 6 factors for progression (mean index 2 iPTH, mean index 2 cCa, 24-h urinary calcium, age, 25(OH)D, and presence of urolithiasis) had an area under the curve 1.00 (95%CI, 1.00-1.00, P < .001) for predicting combined progression. NHPT is a mild variant of PHPT at intermediate risk of urolithiasis and fragility fractures. Cure was less often achieved with parathyroidectomy, which did not improve BMD parameters. Progression was infrequent with conservative management. Because only a minority progressed to PHPT, in addition to lower surgical success rates, we suggest conservative management for the majority of NHPT unless risk factors for progression are identified.

Dataset Information

Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study.

Publications

Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets