Autologous Platelet-Rich Plasma in the Treatment of Perianal Fistula in Crohn’s Disease

[Aim] To assess clinical healing in patients with perianal Crohn’s disease with local intrafistular injection of autologous platelet-rich plasma.[Method] The pilot study was conducted at a single centre between January 2013 and December 2015. Autologous platelet-rich plasma was prepared in platelet-rich and platelet-poor fractions for local intrafistular injection in patients with proven, established perianal Crohn’s disease. Patients were permitted biological therapies, and the Perianal Crohn’s Disease Activity Index was recorded. Patients were followed for 48 weeks for clinical signs of healing (complete, partial or non-healing), monitoring fistula drainage, closure and epithelialization.[Results] The study included 29 patients (19 males; mean age 38 ± 12.8 years) with four exclusions in the operating room because surgery was not indicated and four lost to follow-up. Five adverse events were recorded, with two requiring the drainage of abscess collections. Of the 21 patients assessable at 24 weeks, there was complete healing, partial healing and non-healing in 7 (33.3%), 8 (38.1%) and 6 (28.6%) patients, respectively. By 48 weeks, there was complete healing, partial healing and non-healing in 6 (40%), 6 (40%) and 3 (20%) patients, respectively, with a reduction in the number of visible external fistula openings at both time points (P = 0.021). By the end of the study, there was a higher trend of healing if biological therapies were continued (85.7% with biologics vs. 75% without, P = 0.527), but there were no statistically significant differences and no differences in the Perianal Crohn’s Disease Activity Index.[Conclusion]Autologous platelet-rich plasma is safe in patients with perianal Crohn’s disease, with an acceptable healing rate over a medium-term follow-up, particularly if biological therapies are used concomitantly

Supplementary Material for: Clinical and Molecular Characterization of a Patient with 15q21.2q22.2 Deletion Syndrome

We report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with central obesity. The girl was clinically diagnosed with probable Prader-Willi syndrome. Chromosomal analysis showed a de novo deletion 46,XX,del(15)(q21q22). However, the use of the Affymetrix CytoScan HD Array defined the exact breakpoints of the deleted 15q21q22 region. The imbalance, about 10.5 Mb in size, is to date the second largest deletion ever described in this chromosomal region. In addition, our patient carries a microdeletion in the 1q44 region and a gain in 9p24. The array result was arr[hg19] 9p24.1(6,619,823-6,749,335)×3, 1q44(248,688,586-248,795,277)×1, 15q21.2 q22.2(50,848,301-61,298,006)×1. Although our patient presents additional chromosomal alterations, we provide a correlation between the clinical findings and the phenotype of the 15q21 deletion syndrome

Inter-annual variability of carbon and water fluxes in Amazonian forest, Cerrado and pasture sites, as simulated by terrestrial biosphere models

This study analyzes the inter-annual variability (IAV) of simulations of 21 different land surface model formulations, driven by meteorological conditions measured at 8 flux towers, located in rain forest, forest-savanna ecotone and pasture sites in Amazonia, and one in savanna site in Southeastern Brazil. Annual totals of net ecosystem exchange (NEE) of carbon and evapotranspiration (ET), measured and simulated by each model for each site-year, were compared in terms of year-to-year variability and possible relation to climate drivers. Results have shown that most of models simulations for annual totals of NEE and ET, and IAV of these fluxes, are frequently different from measurements. The average of the model simulations of annual fluxes tend to respond to climatic drivers similarly to the observations, but with noticeable discrepancies. Annual measurements of NEE are negatively correlated to annual rainfall in the forest sites group. Although the ensemble of all models yields a similar result, only three model formulations reproduce a significant negative correlation of simulated NEE with rainfall. For the IAV of ET, tower measurements are controlled by annual variations of radiation and this feature is captured by the ensemble of the models, both at individual sites and when all forest sites are grouped. However, simulated ET values are also significantly correlated to the amount of precipitation in many models and in the model ensemble, while there is no significant correlation in the observations. In general, the surface models are able to reproduce the responses of fluxes to climatic drivers, but improvements are still needed to better capture their inter-annual variability. © 2013 Elsevier B.V.