Hereditary alpha tryptasemia is not associated with specific clinical phenotypes.

BACKGROUND: Hereditary alpha tryptasemia (HαT) is found in approximately 7% of the population. Associations with a variety of clinical symptoms including gastric reflux, joint hypermobility, dysautonomia, flushing and pruritus, and hymenoptera allergy have variably been described in prior reports. However, our understanding of this genetic trait is limited by a paucity of published studies, referral bias, and conflicting findings at clinical presentation. OBJECTIVE: The purpose of this study was to assess the clinical phenotype of HαT in a random biorepository population and in patients with and without mastocytosis referred to the allergy clinic. METHODS: Tryptase copy number allele was assessed using digital droplet PCR. Participants with or without HαT were interviewed and examined by a clinician and surveyed regarding their medical history and symptomology. RESULTS: HαT was identified in 7.5% of the random biorepository samples and in 18% of patients with mastocytosis. There was no difference in the clinical symptomology or medical history of individuals with HαT compared to controls. Average baseline serum tryptase was higher in individuals with HαT compared to controls, but there was no difference in urinary mast cell activation products. CONCLUSIONS: Elevated baseline serum tryptase was the only consistent phenotypic marker for HαT in this study. There was a higher frequency of HαT in patients with mastocytosis than in the general population.

Landmarking the brain for geometric morphometric analysis: an error study.

Neuroanatomic phenotypes are often assessed using volumetric analysis. Although powerful and versatile, this approach is limited in that it is unable to quantify changes in shape, to describe how regions are interrelated, or to determine whether changes in size are global or local. Statistical shape analysis using coordinate data from biologically relevant landmarks is the preferred method for testing these aspects of phenotype. To date, approximately fifty landmarks have been used to study brain shape. Of the studies that have used landmark-based statistical shape analysis of the brain, most have not published protocols for landmark identification or the results of reliability studies on these landmarks. The primary aims of this study were two-fold: (1) to collaboratively develop detailed data collection protocols for a set of brain landmarks, and (2) to complete an intra- and inter-observer validation study of the set of landmarks. Detailed protocols were developed for 29 cortical and subcortical landmarks using a sample of 10 boys aged 12 years old. Average intra-observer error for the final set of landmarks was 1.9 mm with a range of 0.72 mm-5.6 mm. Average inter-observer error was 1.1 mm with a range of 0.40 mm-3.4 mm. This study successfully establishes landmark protocols with a minimal level of error that can be used by other researchers in the assessment of neuroanatomic phenotypes.

Morphometric analysis of brain shape in children with nonsyndromic cleft lip and/or palate.

The purpose of this study was to test for differences in brain shape among children with cleft palate only (n = 22), children with cleft lip and palate (n = 35), and controls (n = 39) using Euclidean distance matrix analysis. Sixteen percent of interlandmark distances differed between children with cleft palate only and controls, 10% differed between children with cleft lip and palate and controls, and 10% differed between children with cleft palate only and children with cleft lip and palate. Major differences in brain shape associated with cleft lip and/or palate included posterior expansion of the occipital lobe, reorientation of the cerebellum, heightened callosal midbody, and posterior displacement of the caudate nucleus and thalamus. Differences in brain shape unique to cleft palate only and to cleft lip and palate were also identified. These results expand upon previous volumetric studies on brain morphology in individuals with cleft lip and/or palate and provide additional evidence that the primary defect in cleft lip and/or palate results in both facial and brain dysmorphology.

Ecological stress and linear enamel hypoplasia in Cebus.

Although it is assumed that monkeys in some environments experience more nutritional or physiological stress than others, little research has been conducted on this topic. This study examines the relationship between linear enamel hypoplasia (LEH) frequency, a physiological indicator of stress, and environmental stressors. To test this relationship, LEH frequencies were calculated for 144 Cebus from 54 locations in Brazil. Habitat, temperature range, and annual rainfall were compared between individuals with and without LEH. The LEH frequency for Cebus from semideciduous forests was significantly higher than that for monkeys from coastal areas, the rainforest, and the savanna (chi(2) = 9.97, df = 1; P = 0.0016). A significantly higher LEH frequency was also found for monkeys living in environments with the mean annual temperature between 15 and 18 degrees C than for those in environments greater than 18 degrees C (chi(2) = 7.74, df = 1, P = 0.0054). However, no significant difference was found between LEH frequency and annual rainfall (t = 1.22, P = 0.23) or the average difference in rainfall between the driest and wettest months (t = 0.77, P = 0.44). These results indicate that levels of physiological stress can differ among environments and that habitat and temperature, but not precipitation, may be driving the difference in stress levels among environments.

Student laboratory presentations as a learning tool in anatomy education.

Previous studies have shown that anatomy students who complete oral laboratory presentations believe they understand the material better and retain it longer than they otherwise would if they only took examinations on the material; however, we have found no studies that empirically test such outcomes. The purpose of this study was to assess the effectiveness of oral presentations through comparisons with other methods of assessment, most notably, examination performance. Specifically, we tested whether students (n = 256) performed better on examination questions on topics covered by their oral presentations than on other topics. Each student completed two graded, 12-minute laboratory presentations on two different assigned topics during the course and took three examinations, each of which covered a third of the course material. Examination questions were characterized by type (memorization, pathway, analytical, spatial). A two-way repeated measures analysis of variance revealed that students performed better on topics covered by their presentations than on topics not covered by their presentations (P < 0.005), regardless of presentation grade (P > 0.05) and question type (P > 0.05). These results demonstrate empirically that oral presentations are an effective learning tool.