Quantitative analysis of gray and white matter in Williams syndrome

Williams syndrome is a developmental disorder with a genetic basis, which results in an uneven cognitive profile with relatively strong language skills and severely impaired visuospatial abilities. To better understand the brain structure underlying this profile, we compared individuals with Williams syndrome with controls using multimodal neuroimaging data and new analytic methods (diffeomorphic mapping and atlas-based analysis). People with Williams syndrome had basal ganglia atrophy, while the fusiform, the medium temporal gyri, and the cerebellar cortex were relatively preserved. The right superior longitudinal fasciculus, the left frontooccipital fasciculus, the caudate, and the cingulum demonstrated increased fractional anisotropy, whereas the corticospinal tract revealed decreased values. These findings may be linked to the uneven cognitive profile evident in Williams syndrome.     

An unusual presentation of idiopathic basal cell carcinoma in an 8-year-old child

We report the unusual case of a young child who developed an idiopathic basal cell carcinoma (BCC). The patient was otherwise healthy, with no history of excessive sun or radiation exposure or any predisposing factors for nonmelanoma skin cancer. This is a rare case that exemplifies the need for pediatricians and dermatologists to be aware that BCC may occur in children, even if they have no predisposing factors.     

Serum creatine kinase after exercise: drawing the line between physiological response and exertional rhabdomyolysis

Introduction: In this investigation we assessed the spectrum of creatine kinase (CK) responses in military recruits undergoing basic training. Methods: Musculoskeletal examination data, questionnaire findings, and CK levels were obtained from 499 recruits at days 0, 3, 7, and 14 of training. Correlations of CK with ethnicity, age, body mass index, exercise, muscle pain, and climate were obtained. Results: None of the subjects developed clinical exertional rhabdomyolysis (ER). The mean/median serum CK values were 223/157, 734/478, 1226/567, and 667/486 IU/L at days 0, 3, 7, and 14, respectively, with a wide overall range (34–35,056 IU/L). African‐American subjects had higher mean CK levels. Conclusions: CK elevations and muscle pain are common during basic training. Widely accepted laboratory diagnostic values for ER are routinely exceeded in this military recruits, suggesting that CK levels >50 times the upper limit of normal are more specific. The findings support using CK as a marker for ER. Normal laboratory reference ranges for CK should be published by ethnicity. Muscle Nerve, 2012     

Involvement of immunologic and biochemical mechanisms in the pathogenesis of Tourette’s syndrome

Tourette’s syndrome is a neurodevelopmental disorder clinically characterized by multiple motor and phonic tics. It is likely that a neurobiological susceptibility to the disorder is established during development by the interaction of genetic, biochemical, immunological, and environmental factors. This study sought to investigate the possible correlation of several immunological and biochemical markers with Tourette’s syndrome. Children with Tourette’s syndrome attending a tertiary pediatric medical center from May 2008 to April 2010, and healthy age-matched control subjects underwent a comprehensive biochemical and immunological work-up. Demographic data were abstracted from the medical records. Findings were compared between the groups and analyzed statistically. Sixty-eight children with Tourette’s syndrome (58 males, 85.3%) and 36 healthy children (25 males, 69.4%) were recruited. Compared with the control group, the Tourette’s syndrome group had significantly higher levels of ferritin (p = 0.01) and hemoglobin (p = 0.02), a lower level of zinc (p = 0.05), and a lower percentage of non-ceruloplasmin copper (p = 0.01). Analysis of the immunological markers revealed no significant between-group differences in IgA, IgM or IgG; however, IgE and IgG-4 levels were significantly higher in the Tourette’s syndrome group (p = 0.04 and p = 0.02, respectively). Children with Tourette’s syndrome have high levels of biochemical indices of oxidative stress and the quantitative immunoglobulins. These findings add to the still-limited knowledge on the pathogenesis of Tourette’s syndrome and may have implications for the development of novel therapeutic modalities.     

Dopamine and frontostriatal networks in cognitive aging

Recent studies have linked dopamine to differences in behavior and brain activity in normal individuals. We explored these relationships in older and younger adults by investigating how functional connectivity between the striatum and prefrontal cortex is related to caudate dopamine and verbal working memory task performance. We studied 12 young and 18 older participants with functional magnetic resonance imaging (fMRI) during this task, and used positron emission tomography with the tracer 6-[¹⁸F]-fluoro-L-m-tyrosine (FMT) to assess dopamine synthesis capacity. Younger adults had a greater extent of frontal caudate functional connectivity during the load-dependent delay period of the working memory task than the older participants. Across all subjects, the extent of this functional connectivity was negatively correlated with dopamine synthesis capacity, such that participants with the greatest connectivity had the lowest caudate 6-[¹⁸F]-fluoro-L-m-tyrosine (FMT) signal. Additionally, the extent of functional connectivity was positively correlated with working memory performance. Overall these data suggest interdependencies exist between frontostriatal functional connectivity, dopamine, and working memory performance and that this system is functioning suboptimally in normal aging.     

Vitreous deformation during eye movement

Retinal detachment results in visual loss and requires surgical treatment. The risk of retinal detachment depends, among other factors, on the vitreous rheology, which varies with age. To date, the viscoelasticity of the vitreous body has only been measured in cadaver eyes. However, the ex vivo and in vivo viscoelasticity may differ as a result of the effect of intravitreal membranes. Therefore, an MRI method and appropriate postprocessing tools were developed to determine the vitreous deformation and viscoelastic properties in the eyes of living humans. Nineteen subjects (eight women and 11 men; mean age, 33 years; age range, 14-62 years) gazed at a horizontal sinusoidal moving target during the segmented acquisition of complementary spatial modulation of magnetization images. The center of the lens and the scleral insertion of the optic nerve defined the imaging plane. The vitreous deformation was tracked with a dedicated algorithm and fitted with the commonly used viscoelastic model to determine the model parameters: the modified Womersley number a and the phase angle b. The vitreous deformation was successfully quantified in all 17 volunteers having a monophasic vitreous. The mean and standard deviation of the model parameters were determined to be 5.5 ± 1.3 for a and -2.3 ± 0.2 for b. The correlation coefficient (-0.76) between a and b was significant. At the eye movement frequency used, the mean storage and loss moduli of the vitreous were around 3 ± 1 hPa. For two subjects, the vitreous deformation was clearly polyphasic: some compartments of the vitreous were gel-like and others were liquefied. The borders of these compartments corresponded to reported intravitreal membrane patterns. Thus, the deformation of the vitreous can now be determined in situ, leaving the structure of the intravitreal membranes intact. Their effect on vitreous dynamics challenges actual vitreous viscoelastic models. The determination of the vitreous deformation will aid in the quantification of local vitreous stresses and their correlation with retinal detachment.     

An evaluation of the first time performance of international medical graduates in the MRCOG Part 1 and Part 2 written examinations

Objectives

To evaluate the performance of international medical graduates in the MRCOG Part 1 and Part 2 written examinations.

Study design

Using the database of the Royal College of Obstetricians and Gynaecologists, a retrospective analysis was performed of the performance of overseas candidates who appeared for the first time in the Part 1 (n = 11,863) and Part 2 written (n = 5336) MRCOG examinations between 2000 and 2010. Candidates were grouped according to the RCOG geographical bands.

Results

In the Part 1 MRCOG examination the graduates of band E (India and Pakistan) and band B (Australia, New Zealand and Canada) performed well (pass rate 41.2% and 39.3% respectively) but the candidates of band C (East Africa 27.1%) and bands J and A (Europe 29.9%, Ireland 17.9%) underperformed. In the MRCOG Part 2 written examination the medical graduates of band D (Singapore and Hong Kong) and band B (Australia, New Zealand and Canada) performed well (pass rates 65.9% and 54.8%), but the candidates of band H (Middle East, pass rate 8.5%) and band C (Africa West, pass rate 12.7%) performed worse than the remaining cohort. The greatest number of candidates in the Part 2 written examinations appeared from India and Pakistan (n = 2999, pass rate 22.2%).

Conclusion

Our results have shown that there is variation in performance among the IMG from different geographical regions in the Part 1 and Part 2 written MRCOG examinations.