Faculty Bibliography

Medullary sponge kidney (MSK) is associated with recurrent calcium stones. Gambaro's group evaluated the relatives of probands with MSK. When prior imaging was not available, they performed renal ultrasounds. They demonstrated familial clustering, providing the best evidence yet that MSK is a heritable disorder. Although a small proportion of MSK cases are associated with variants of glial cell-derived neurotrophic factor (GDNF), the genetic basis for most instances of MSK is not known.

High speed and high spatial resolution are at the top of the wish list of every neuroscientist. An important step of progress in this direction has now been made by sampling throughout the brain fMRI signals that temporally surround important physiological patterns.

Theories on the functions of the hippocampal system are based largely on two fundamental discoveries: the amnestic consequences of removing the hippocampus and associated structures in the famous patient H.M. and the observation that spiking activity of hippocampal neurons is associated with the spatial position of the rat. In the footsteps of these discoveries, many attempts were made to reconcile these seemingly disparate functions. Here we propose that mechanisms of memory and planning have evolved from mechanisms of navigation in the physical world and hypothesize that the neuronal algorithms underlying navigation in real and mental space are fundamentally the same. We review experimental data in support of this hypothesis and discuss how specific firing patterns and oscillatory dynamics in the entorhinal cortex and hippocampus can support both navigation and memory.

Aim Difficulties in neurocognition and social interaction are the most prominent causes of morbidity and long-term disability in children with neurofibromatosis type 1 (NF1). Symptoms of attention-deficit-hyperactivity disorder (ADHD) have also been extensively recognized in NF1. However, systematic evaluation of symptoms of autism spectrum disorder (ASD) in children with NF1 has been limited. Method We present a retrospective, cross-sectional study of the prevalence of symptoms of ASD and ADHD and their relationship in a consecutive series of 66 patients from our NF1 clinic. The Social Responsiveness Scale and the Vanderbilt ADHD Diagnostic Parent Rating Scale were used to assess symptoms of ASD and ADHD. Results Sixty-six participants (42 males, 24 females) were included in this study. Mean age at assessment was 10 years 11 months (SD 5y 4mo). Forty percent of our NF1 sample had raised symptom levels reaching clinical significance on the Social Responsiveness Scale (T >/= 60), and 14% reached levels consistent with those seen in children with ASDs (T >/= 75). These raised levels were not explained by NF1 disease severity or externalizing/internalizing behavioral disorders. There was a statistically significant relationship between symptoms of ADHD and ASD (chi(2) =9.11, df=1, p=0.003, phi=0.56). Particularly salient were the relationships between attention and hyperactivity deficits, with impairments in social awareness and social motivation. Interpretation We found that symptoms of ASD in our NF1 population were raised, consistent with previous reports. Further characterization of the specific ASD symptoms and their impact on daily function is fundamental to the development and implementation of effective interventions in this population, which will probably include a combination of medical and behavioral approaches.

OBJECTIVE: To test whether children with attention-deficit/hyperactivity disorder (ADHD), free of conduct disorder (CD) in childhood (mean = 8 years), have elevated risk-taking, accidents, and medical illnesses in adulthood (mean = 41 years); whether development of CD influences risk-taking during adulthood; and whether exposure to psychostimulants in childhood predicts cardiovascular disease. We hypothesized positive relationships between childhood ADHD and risky driving (in the past 5 years), risky sex (in the past year), and between risk-taking and medical conditions in adulthood; and that development of CD/antisocial personality (APD) would account for the link between ADHD and risk-taking. We report causes of death. METHOD: Prospective 33-year follow-up of 135 boys of white ethnicity with ADHD in childhood and without CD (probands), and 136 matched male comparison subjects without ADHD (comparison subjects; mean = 41 years), blindly interviewed by clinicians. RESULTS: In adulthood, probands had relatively more risky driving, sexually transmitted disease, head injury, and emergency department admissions (p< .05-.01). Groups did not differ on other medical outcomes. Lifetime risk-taking was associated with negative health outcomes (p = .01-.001). Development of CD/APD accounted for the relationship between ADHD and risk-taking. Probands without CD/APD did not differ from comparison subjects in lifetime risky behaviors. Psychostimulant treatment did not predict cardiac illness (p = .55). Probands had more deaths not related to specific medical conditions (p = .01). CONCLUSIONS: Overall, among children with ADHD, it is those who develop CD/APD who have elevated risky behaviors as adults. Over their lifetime, those who did not develop CD/APD did not differ from comparison subjects in risk-taking behaviors. Findings also provide support for long-term safety of early psychostimulant treatment.

Attention-deficit/hyperactivity disorder (ADHD) and Asperger's Syndrome (AS) share a heterogeneous cognitive profile. Studies assessing executive functions (EF) and social cognition in both groups have found preserved and impaired performances. These inconsistent findings would be partially explained by the cognitive variability reported in these disorders. First, the present study explored the inter-individual variability in EF and social cognition in both patient groups. Second, we compared differential characteristics and commonalities in the cognitive profiles of EF and social cognition between ADHD, AS and control adults. We assessed 22 patients with ADHD, 23 adults with AS and 21 matched typically developing subjects using different measures of EF (working memory, cognitive flexibility and multitasking) and social cognition (theory of mind and decision-making). Group comparisons and multiple case series analyses (MCSA) were conducted. The between-group comparisons showed an EF deficit in working memory in ADHD and a theory of mind (ToM) impairment in AS. The MCSA evidenced that, compared to controls, ADHD patients had a higher inter-individual variability in EF, while individuals with AS had a more heterogeneous profile in social cognition tasks compared to both groups. Finally, the AS and ADHD groups presented higher task-related variability compared to controls and shared a common heterogeneous profile in EF. This is the first study to compare variability in EF and social cognition profiles of ADHD and AS. We propose that heterogeneity in EF performance is a link between ADHD and AS which may explain the overlap of symptomatology between both diagnoses. In addition, patients with AS seem to show a unique heterogeneous profile in ToM which may explain the low probability of finding AS symptoms in patients with ADHD.

This article reviews the data on pharmacologic treatment of kidney stone disease, with a focus on prophylaxis against stone recurrence. One of the most effective and important therapies for stone prevention, an increase in urine volume, is not discussed because this is a dietary and not a pharmacologic intervention. Also reviewed are medical expulsive therapy used to improve the spontaneous passage of ureteral stones and pharmacologic treatment of symptoms associated with ureteral stents. The goal is to review the literature with a focus on the highest level of evidence (ie, randomized controlled trials).

GOALS: : To analyze the neurochemical profile during the recurrent attacks of nausea and vomiting in patients with Riley-day syndrome. BACKGROUND: : One of the most disabling features of patients with Riley-day syndrome are recurrent attacks of severe nausea/retching/vomiting accompanied by hypertension, tachycardia, and skin flushing, usually triggered by emotional or other stresses. STUDY: : We monitored blood pressure and heart rate and measured plasma catecholamines during typical dysautonomic crises triggered by emotionally charged situations. For comparison, measurements were repeated at follow-up after the symptoms had resolved and the patients were feeling calm and well. RESULTS: : During a typical attack, patients were hypertensive and tachycardic. In all patients, circulating levels of norepinephrine (P<0.002) and dopamine (P<0.007) increased significantly. CONCLUSIONS: : Activation of dopamine receptors in the chemoreceptor trigger zone may explain the cyclic nausea/retching/vomiting of patients with Riley-day syndrome.

Renal function is characterized by different physiologic aspects, including perfusion, glomerular filtration, interstitial diffusion, and tissue oxygenation. Magnetic resonance imaging (MRI) shows great promise in assessing these renal tissue characteristics noninvasively. The last decade has witnessed a dramatic progress in MRI techniques for renal function assessment. This article briefly describes relevant renal anatomy and physiology, reviews the applications of functional MRI techniques for the diagnosis of renal diseases, and lists unresolved issues that will require future work. J. Magn. Reson. Imaging 2013;37:282-293. (c) 2012 Wiley Periodicals, Inc.