Perthes disease : A new finding in Floating-Harbor syndrome

Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein. Mutations in the CREBBP gene cause Rubinstein-Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. We describe a case of FHS associated with a novel SRCAP mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. Thus Perthes disease can be added to the list of clinical features that overlap between FHS and RSTS

Data Analysis and Modeling to Optimize Thermal Treatment Cost and Performance

The objective of in situ thermal treatment is typically to reduce the contaminant mass or average soil concentration below a specified value. Evaluation of whether the objective has been met is usually made by averaging soil concentrations from a limited number of soil samples.Results from several field sites indicate large performance uncertainty using this approach, even when the number of samples is large. We propose a method to estimate average soil concentration by fi tting a log normal probability model to thermal mass recovery data. A statistical approach is presented for making termination decisions from mass recovery data, soil sample data, or both for an entire treatment volume or for subregions that explicitly considers estimation uncertainty which is coupled to a stochastic optimization algorithm to identify monitoring strategies to meet objectives with minimum expected cost. Early termination of heating in regions that reach cleanup targets sooner enables operating costs to be reduced while ensuring a high likelihood of meeting remediation objectives. Results for an example problem demonstrate that significant performance improvement and cost reductions can be achieved using this approach