Ocular manifestations of Niemann-Pick disease type B.

Purpose: To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B).

Design: Observational case series.

Participants: Forty-five patients (23 male and 22 female) with NPD-B from 37 unrelated families.

A componential analysis of task-switching deficits associated with lesions of left and right frontal cortex.

Executive functions such as task-set switching are thought to depend on the frontal cortex. However, more precision is required in identifying which components of such high-level processes relate to which, if any, subregions of the brain. In a recent study of 19 patients with focal right frontal (RF) lesions and 17 with left frontal (LF) lesions, we found that response inhibition, as measured by the stop-signal task, was specifically disrupted by damage to the right inferior frontal gyrus (IFG).

Inhibition and the right inferior frontal cortex.

It is controversial whether different cognitive functions can be mapped to discrete regions of the prefrontal cortex (PFC). The localisationist tradition has associated one cognitive function - inhibition - by turns with dorsolateral prefrontal cortex (DLPFC), inferior frontal cortex (IFC), or orbital frontal cortex (OFC). Inhibition is postulated to be a mechanism by which PFC exerts its effects on subcortical and posterior-cortical regions to implement executive control.

Human midbrain sensitivity to cognitive feedback and uncertainty during classification learning.

Mesencephalic dopaminergic system (MDS) neurons may participate in learning by providing a prediction error signal to their targets, which include ventral striatal, orbital, and medial frontal regions, as well as by showing sensitivity to the degree of uncertainty associated with individual stimuli. We investigated the mechanisms of probabilistic classification learning in humans using functional magnetic resonance imaging to examine the effects of feedback and uncertainty. The design was optimized for separating neural responses to stimulus, delay, and negative and positive feedback components.

Methylphenidate improves response inhibition in adults with attention-deficit/hyperactivity disorder.

Background: Response inhibition is an executive function that requires voluntary control over responses when there is a change of context. The right inferior frontal cortex is necessary for response inhibition, and a deficit in right frontostriatal circuitry might underlie attention-deficit/hyperactivity disorder (ADHD). Many studies of childhood ADHD have demonstrated impaired response inhibition and its amelioration by methylphenidate (MPH).

Task-set switching deficits in early-stage Huntington's disease: implications for basal ganglia function.

Executive functions are likely mediated by interconnected circuits including frontal lobe and basal ganglia structures. We assessed the executive function of task switching in patients with early-stage Huntington's disease (HD), a neurodegenerative disease affecting the basal ganglia. In two experiments, the HD patients had greater difficulty when switching than when repeating a task than matched controls, and this was true even when scaling for the overall slowing of the patients.

Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy.

Objectives: To determine the biochemical and clinical effects of intravenous arginine butyrate in X-linked Adrenoleukodystrophy (X-ALD).

Study Design: Arginine butyrate was intravenously infused over a 4-month period in a patient with the rapid cerebral form of X-ALD. Very long chain fatty acids (VLCFA), complete blood counts, and serum chemistries were monitored, and serial MRI of the brain and clinical neurologic examinations were performed.

Distractibility during selection-for-action: differential deficits in Huntington's disease and following frontal lobe damage.

Selective attention can be measured through analysis of errors and reaction time (RT) for trials in which targets are presented alone compared with trials in which targets and distractors are presented. This study investigated selective attention using a reaching task, in which subjects made rapid reaches to targets. Thirty-seven patients with lesions of the prefrontal cortex (PFC) were compared with 19 healthy age- and IQ-matched volunteers and 18 patients with early-stage Huntington's disease (HD), a neurodegenerative disease primarily affecting the basal ganglia.

Relative lack of cognitive effects of methylphenidate in elderly male volunteers.

Rationale: Methylphenidate, a dopaminergic and noradrenergic reuptake inhibitor, has been shown in young, healthy adult volunteers to produce pronounced effects on working memory and sustained attention. We were interested in assessing whether similar improvements could be conferred upon elderly volunteers in order to gain a more complete understanding of the effects of age on monoaminergic manipulations of working memory and attention, as well as to explore the potential for pharmacological intervention in attention and executive dysfunction disorders in this age group.

Objectives: The main aim of the study was to characterise the dose-related effects of methylphenidate on a range of neuropsychological functions in elderly healthy volunteers.

Inhibition of subliminally primed responses is mediated by the caudate and thalamus: evidence from functional MRI and Huntington's disease.

Masked prime tasks have shown that sensory information that has not been consciously perceived can nevertheless trigger the preactivation of a motor response. Automatic inhibitory control processes prevent such response tendencies from interfering with behaviour. The present study investigated the possibility that these inhibitory control processes are mediated by a cortico-striatal-pallidal-thalamic pathway by using a masked prime task with Huntington's disease patients (Experiment 1) and with healthy volunteers in a functional MRI (fMRI) study (Experiment 2).

The neural mechanisms of mate choice: a hypothesis.

Scientists have described many physical and behavioral traits in avian and mammalian species that evolved to attract mates. But the brain mechanisms by which conspecifics become attracted to these traits is unknown. This paper maintains that two aspects of mate choice evolved in tandem: 1) traits that evolved in the "display producer" to attract mates and, 2) corresponding neural mechanisms in the "display chooser" that enable them to become attracted to these display traits.

Cognitive enhancing effects of modafinil in healthy volunteers.

Rationale: Modafinil, a novel wake-promoting agent, has been shown to have a similar clinical profile to that of conventional stimulants such as methylphenidate. We were therefore interested in assessing whether modafinil, with its unique pharmacological mode of action, might offer similar potential as a cognitive enhancer, without the side effects commonly experienced with amphetamine-like drugs.

Objectives: The main aim of this study was to evaluate the cognitive enhancing potential of this novel agent using a comprehensive battery of neuropsychological tests.

Defining the brain systems of lust, romantic attraction, and attachment.

Mammals and birds have evolved three primary, discrete, interrelated emotion-motivation systems in the brain for mating, reproduction, and parenting: lust, attraction, and male-female attachment. Each emotion-motivation system is associated with a specific constellation of neural correlates and a distinct behavioral repertoire. Lust evolved to initiate the mating process with any appropriate partner; attraction evolved to enable individuals to choose among and prefer specific mating partners, thereby conserving their mating time and energy; male-female attachment evolved to enable individuals to cooperate with a reproductive mate until species-specific parental duties have been completed.

Material-specific lateralization in the medial temporal lobe and prefrontal cortex during memory encoding.

Numerous observations in patients with unilateral lesions of the medial temporal lobe (MTL) and the prefrontal cortex indicate that memory processes are lateralized according to content. Left-sided lesions interfere with verbal memory processes, whereas right-sided lesions interfere with visuospatial (non-verbal) memory processes. However, functional imaging studies have resulted in contradictory data, some studies showing lateralization in the prefrontal cortex determined by stage of processing (encoding versus retrieval) and others suggesting that lateralization is dependent on the type of material.

Couples' shared participation in novel and arousing activities and experienced relationship quality.

Using a newspaper questionnaire, a door-to-door survey, and 3 laboratory experiments, the authors examined a proposed effect of shared participation in novel and arousing activities on experienced relationship quality. The questionnaire and survey studies found predicted correlations of reported shared "exciting" activities and relationship satisfaction plus their predicted mediation by relationship boredom. In all 3 experiments, the authors found predicted greater increases in experienced relationship quality from before to after participating together in a 7-min novel and arousing (vs.

Anti-cardiolipin, anti-endothelial-cell and anti-malondialdehyde-LDL antibodies in uremic patients undergoing hemodialysis: relationship with vascular access thrombosis and thromboembolic events.

Patients with chronic renal failure requiring regular hemodialysis are known to be prone to thromboembolic events due to a hypercoagulable state. Vascular access thrombosis (VAT; including thrombosis of the vascular shunt or graft) represents a serious complication and jeopardizes life in these patients. In the current study, conducted on 81 consecutive patients from the Hemodialysis Unit, we have employed ELISA for the estimation of various autoantibody levels (anti-endothelial cell antibodies, anti-cardiolipin, anti-beta 2GPI and anti-modified LDL antibodies) and correlated them with the occurrence of thromboembolic events in general, and VAT in particular.

Sensory-processing sensitivity and its relation to introversion and emotionality.

Over a series of 7 studies that used diverse samples and measures, this research identified a unidimensional core variable of high sensory-processing sensitivity and demonstrated its partial independence from social introversion and emotionality, variables with which it had been confused or subsumed in most previous theorizing by personality researchers. Additional findings were that there appear to be 2 distinct clusters of highly sensitive individuals (a smaller group with an unhappy childhood and related variables, and a larger group similar to nonhighly sensitive individuals except for their sensitivity) and that sensitivity moderates, at least for men; the relation of parental environment to reporting having had an unhappy childhood. This research also demonstrated adequate reliability and content, convergent, and discriminant validity for a 27-item Highly Sensitive Person Scale.

Early onset of autoimmunity in MRL/++ mice following immunization with beta 2 glycoprotein I.

Antiphospholipid antibodies (aPL) are associated with thrombosis, thrombocytopenia and recurrent fetal loss in humans and in some animal models. Immunization with beta 2 glycoprotein I (beta 2GPI) induced aPL production in normal rabbits and mice. However, the association of these antibodies with disease manifestations remains controversial.

Mechanisms of action of antiphospholipid antibodies in the antiphospholipid syndrome.

Antiphospholipid antibody syndrome (APS) is characterized by autoantibodies against negatively charged phospholipids in the serum, and clinically by multiple thromboses, thrombocytopenia, and recurrent fetal loss. The mechanism(s) by which the antibodies cause the clinical picture are not clear. We review the possible mechanisms of action of antiphospholipid (aPL) antibodies.

Experimental models for antiphospholipid studies.

Three types of Experimental Animal Models have been used to investigate APA. 1) Passive transfer of APA to nocive mice. Branch et al injected pregnant Balb/c mice with purified IgG APA from patients with recurrent fetal loss.

Congenital Horner's syndrome does not alter Lisch nodule formation.

A 21-year-old woman with neurofibromatosis type 1 (NF-1) had a unilateral congenital Horner's syndrome with resultant hypopigmentation of the affected iris. Lisch nodules, which are melanocytic hamartomas, were similar in number, size, and pigmentation in both eyes. The present findings suggest that the formation of Lisch nodules is not influenced by the presence or absence of sympathetic innervation of the iris.

[Gemfibrozil-induced myopathy].

A 61-year-old woman with hyperlipidemia was treated with gemfibrozil. She also had insulin-treated diabetes mellitus and chronic renal failure and was admitted because of severe chest pain. The ST segment was depressed and creatine kinase levels were elevated.

Ventricular arrhythmias in rehabilitated and nonrehabilitated post-myocardial infarction patients with left ventricular dysfunction.

The incidence of ventricular arrhythmias in rehabilitated post-myocardial infarction (MI) patients with left ventricular dysfunction included in a long-term rehabilitation program was assessed and compared with that in similar patients who were not in such a program. Thirty-eight post-MI patients (2 to 19 years after the acute event) with ejection fraction < 40% were investigated by 48-hour Holter monitoring. They were divided into the following 3 groups: group I, 11 patients who underwent arm training for 60 months; group II, 11 patients who underwent calisthenics for 36 months; and group III, 16 patients who were not in any rehabilitation program; the age of the patients was 61 +/- 7, 61 +/- 6 and 61 +/- 9 years, respectively, (p = not significant).