Serotonin system gene variants and regional brain volume differences in pediatric OCD.

Obsessive-compulsive disorder (OCD) is phenotypically heterogeneous and genetically complex. This study aimed to reduce heterogeneity using structural brain imaging to study putative intermediate phenotypes for OCD. We hypothesized that select serotonin gene variants would differ in their relationship with brain volume in specific regions of the cortico-striato-thalamo-cortical (CSTC) circuits between OCD patients and controls. In a total of 200 pediatric subjects, we genotyped candidate serotonin genes (SLC6A4, HTR2A, HTR1B, and HTR2C) and conducted structural magnetic resonance imaging (sMRI) to measure regional brain volumes within CSTC circuits. In males and females separately, we first tested the association between serotonin gene variants and OCD and the effect of serotonin gene variants on brain volume irrespective of diagnosis. We then carried out a series of analyses to assess the effect of genotype-diagnosis interaction on brain volume. In females, but not in males, we identified a statistically significant genotype-diagnosis interaction for two single nucleotide polymorphisms (SNPs) in HTR2C, rs12860460 (interaction term estimate of 5.45 cc and interaction P value of 9.70e-8) and rs12854485 (interaction term estimate of 4.28 cc and interaction P value of 2.07e-6). The tested allele in each SNP was associated with decreased anterior cingulate cortex (ACC) volume in controls and with increased ACC volume in OCD patients. Our findings suggest that, in females, sequence variation in HTR2C influences ACC volume in pediatric OCD. The variants may contribute to differences in ACC volume and to OCD in a sex-specific manner when acting together with other genetic, biological, and/or environmental factors.

In-vitro assessment of a new portable ballistic lithotripter with percutaneous and ureteroscopic models.

BACKGROUND AND PURPOSE: The EMS Swiss LithoBreaker is a new, portable, electrokinetic lithotripter. We compared its tip velocity and displacement characteristics with a handheld, pneumatic lithotripter LMA StoneBreaker.™ We also evaluated fragmentation efficiency using in vitro models of percutaneous and ureteroscopic stone fragmentation. MATERIALS AND METHODS: Displacement and velocity profiles were measured for 1-mm and 2-mm probes using a laser beam aimed at a photo detector. For the percutaneous model, 2-mm probes fragmented 10-mm spherical BegoStone phantoms until the fragments passed through a 4-mm mesh sieve. The ureteroscopic model used 1-mm probes and compared the pneumatic and electrokinetic devices to a 200-µm holmium laser fiber. Cylindrical (4-mm diameter, 4-mm length) BegoStone phantoms were placed into silicone tubing to simulate the ureter; fragmented stones passed through a narrowing in the tubing. RESULTS: For both 1-mm and 2-mm probes, the electrokinetic device had significantly higher tip displacement and slower tip velocity, P<0.01. In the percutaneous model, the electrokinetic device needed an average of 484 impulses over 430 seconds to fragment one BegoStone, while the pneumatic device needed 29 impulses over 122 seconds to fragment one stone. Both clearance times and number of impulses needed for percutaneous stone clearance were significantly different at P<0.01. Ureteroscopically, the mean clearance time was 97 seconds for the electrokinetic lithotripter, 145 seconds for the pneumatic lithotripter, and 304 seconds for the laser. Comparing the pneumatic device with the electrokinetic device ureteroscopically, there was no significant difference in clearance time, P=0.55. Both the pneumatic and electrokinetic lithotripters, however, demonstrated decreased clearance times compared with the laser, P=0.027. CONCLUSIONS: The portable electrokinetic lithotripter may be better suited for ureteroscopy instead of percutaneous nephrolithotomy. It appears to be comparable to the portable pneumatic device in the ureter. Further clinical studies are needed to confirm these findings in vivo.

Progression of venographic changes after experimentally induced laminitis.

Venography (retrograde venous angiography) is a relatively simple and practical method for vascular assessment of the digits in the standing horse. The technique is a useful adjunct to routine radiography. The clinical use of the laminitis venogram has resulted in a more comprehensive understanding of the collateral pathology associated with distal phalanx displacement and abnormal hoof growth. The effectiveness of therapeutic procedures such as hoof wall resection, coronary band grooving, deep digital flexor tenotomy, and therapeutic shoeing can be assessed by serial venography. This article discusses the venographic appearance during the transition from the clinically normal hoof to the severe chronic laminitis cases similar to those seen in practice.

Reappraisal of use of X-rays in childhood ankle and midfoot injuries.

OBJECTIVES: To determine whether the Ottawa ankle rules (OAR) can be applied in children and what the potential reduction in the use of X-ray studies might be. METHODS: Prospective, observational study of children attending emergency department with blunt ankle and midfoot injuries. X-ray studies were obtained after recording of the physical assessment. A single investigator who was blinded to the emergency physician's interpretations and to the radiologist's interpretations of the studies then applied the OAR to each patient. Sensitivity, specificity, and positive and negative predictive values of the OAR were calculated with 95% confidence intervals. RESULTS: The OAR were 100% sensitive (95% CI=81-100%) and 30% specific (95%CI=19-43%). Positive and negative predictive values were 28% (95%CI=17-41%) and 100% (95% CI=82-100%) respectively. The number of X-ray studies ordered would have been reduced by 24% if the OAR had been applied. CONCLUSIONS: The Ottawa ankle rules are very sensitive and can be applied in children, resulting in a reduction in the use of X-rays studies.