The futility of genomic counseling: essential role of electronic health records

Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patients will soon be sufficiently cost-effective for widespread clinical integration. Yet, the clinical utility of whole-genome data is currently limited by an inability to effectively process, store, interpret and update genomic data, while at the same time protecting patient privacy. Enter the electronic health record. We propose that without the integration of a dynamic uniform electronic health record, counseling patients on the basis of genome-wide data will be futile

Gestalt vision experiments from an image processing perspective

Abstract In the late 19th century, the Gestalt Psychology rebelled against the popular new science of Psychophysics. The Gestalt revolution used many fascinating visual examples to illustrate that the whole is greater than the sum of all the parts. The physical interpretation of sensations and their quantification by JND's and Weber fractions were met with innumerable examples in which two identical physical stimuli did not look the same. The debate continues today with proponents of both physical, pixel-based thinking and perceptual, image based thinking. Image processing concepts can provide a new way of analyzing famous Gestalt displays. By this way of thinking, simple multi-resolution spatial processes can account for the various appearances of identical stimuli by analyzing the spatial properties of the entire image. Benary's Cross, Adelson's diamonds and Logvinenko's gradients can all be modeled by the low-, middle-and high-spatial-frequency components of the image. Pixel based analogs of physics and object cognition can be replace by familiar image processing concepts, such as multiresolution spatial comparisons

The use of TeleMedicine in the Treatment of Pediatric Obesity: Feasibility and Acceptability

This is the peer reviewed version of the following article: Davis, A. M., James, R. L., Boles, R. E., Goetz, J. R., Belmont, J. and Malone, B. (2011), The use of TeleMedicine in the treatment of paediatric obesity: feasibility and acceptability. Maternal & Child Nutrition, 7: 71–79. doi:10.1111/j.1740-8709.2010.00248.x, which has been published in final form at http://doi.org/10.1111/j.1740-8709.2010.00248.x. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.OBJECTIVE: To assess the feasibility of conducting empirically supported family based pediatric obesity group treatment via telemedicine. METHODS: Seventeen families were randomly assigned to one of two conditions (physician visit, TeleMedicine). Measures included feasibility, satisfaction, and intervention outcome measures such as BMI percentile, and nutrition and activity behaviors. Measures were completed at baseline, post-treatment, and at one-year follow-up. RESULTS: Analyses indicate that both feasibility and satisfaction data regarding the TeleMedicine intervention were positive. Intervention outcome indicates no change in BMI percentile or nutrition and activity behaviors for either treatment group. CONCLUSIONS: A behavioral family-based weight loss intervention delivered via TeleMedicine was well received by both parents and providers. Due to the small sample size, null findings regarding intervention outcome should be interpreted with caution. Future research should focus on methods to increase the impact of this intervention on key outcome variables

Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: A potential therapy for primary hyperoxaluria

Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: A potential therapy for primary hyperoxaluria.BackgroundPrimary hyperoxaluria is a rare genetic disorder of glyoxylate metabolism that results in overproduction of oxalate. The disease is characterized by severe calcium oxalate nephrolithiasis and nephrocalcinosis, resulting in end-stage renal disease (ESRD) early in life. Most patients eventually require dialysis and kidney transplantation, usually in combination with the replacement of the liver. Reduction of urinary oxalate levels can efficiently decrease calcium oxalate depositions; yet, no treatment is available that targets oxalate biosynthesis. In previous in vitro studies, we demonstrated that pyridoxamine can trap reactive carbonyl compounds, including intermediates of oxalate biosynthesis.MethodsThe effect of PM on urinary oxalate excretion and kidney crystal formation was determined using the ethylene glycol rat model of hyperoxaluria. Animals were given 0.75% to 0.8% ethylene glycol in drinking water to establish and maintain hyperoxaluria. After 2 weeks, pyridoxamine treatment (180mg/day/kg body weight) started and continued for an additional 2 weeks. Urinary creatinine, glycolate, oxalate, and calcium were measured along with the microscopic analysis of kidney tissues for the presence of calcium oxalate crystals.ResultsPyridoxamine treatment resulted in significantly lower (by ∼50%) levels of urinary glycolate and oxalate excretion compared to untreated hyperoxaluric animals. This was accompanied by a significant reduction in calcium oxalate crystal formation in papillary and medullary areas of the kidney.ConclusionThese results, coupled with favorable toxicity profiles of pyridoxamine in humans, show promise for therapeutic use of pyridoxamine in primary hyperoxaluria and other kidney stone diseases

European Population Substructure: Clustering of Northern and Southern Populations

Using a genome-wide single nucleotide polymorphism (SNP) panel, we observed population structure in a diverse group of Europeans and European Americans. Under a variety of conditions and tests, there is a consistent and reproducible distinction between “northern” and “southern” European population groups: most individual participants with southern European ancestry (Italian, Spanish, Portuguese, and Greek) have >85% membership in the “southern” population; and most northern, western, eastern, and central Europeans have >90% in the “northern” population group. Ashkenazi Jewish as well as Sephardic Jewish origin also showed >85% membership in the “southern” population, consistent with a later Mediterranean origin of these ethnic groups. Based on this work, we have developed a core set of informative SNP markers that can control for this partition in European population structure in a variety of clinical and genetic studies

Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis

BACKGROUND: Disaccharide Intolerance Type I (Mendelian Interance in Man database: *222900) is a rare inborn error of metabolism resulting from mutation in sucrase-isomaltase (Enzyme Catalyzed 3.2.1.48). Usually, infants with SI deficiency come to attention because of chronic diarrhea and nutritional evidence of malabsorption. CASE PRESENTATION: We describe an atypical presentation of this disorder in a 10-month-old infant. In addition to chronic diarrhea, the child displayed severe and chronic hypercalcemia, the evaluation of which was negative. An apparently coincidental right orbital hemangioma was detected. Following identification of the SI deficiency, an appropriately sucrose-restricted, but normal calcium diet regimen was instituted which led to cessation of diarrhea, substantial weight gain, and resolution of hypercalcemia. CONCLUSIONS: This case illustrates that, similar to congenital lactase deficiency (Mendelian Interance in Man database: *223000, Alactasia, Hereditary Disaccharide Intolerance Type II), hypercalcemia may complicate neonatal Sucrase-Isomaltase deficiency. Hypercalcemia in the presence of chronic diarrhea should suggest disaccharide intolerance in young infants