PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction

PHACE is an acronym to describe the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, and eye abnormalities. More than 200 cases have been reported. The present report presents the cases of two female infants with PHACE syndrome, both of whom had additional congenital defects of subependymal gray matter heterotopia, craniofacial arterial anomalies, and pituitary dysfunction. One had an extensive segmental facial hemangioma with ipsilateral intracranial hemangiomas. The other had multiple cutaneous hemangiomas, but no segmental facial hemangioma. These two cases suggest a further expansion of the spectrum of PHACE to include other forms of disordered cerebral development and endocrine dysfunction.     

Pathological amygdala activation during working memory performance: Evidence for a pathophysiological trait marker in bipolar affective disorder

Recent evidence suggests that deficits of working memory may be a promising neurocognitive endophenotype of bipolar affective disorder. However, little is known about the neurobiological correlates of these deficits. The aim of this study was to determine possible pathophysiological trait markers of bipolar disorder in neural circuits involved in working memory. Functional magnetic resonance imaging was performed in 18 euthymic bipolar patients and 18 matched healthy volunteers using two circuit‐specific experimental tasks established by prior systematic neuroimaging studies of working memory. Both euthymic bipolar patients and healthy controls showed working memory‐related brain activations that were highly consistent with findings from previous comparable neuroimaging studies in healthy subjects. While these patterns of brain activation were completely preserved in the bipolar patients, only the patients exhibited activation of the right amygdala during the articulatory rehearsal task. In the same task, functional activation in right frontal and intraparietal cortex and in the right cerebellum was significantly enhanced in the patients. These findings indicate that the right amygdala is pathologically activated in euthymic bipolar patients during performance of a circuit‐specific working memory task (articulatory rehearsal). This pathophysiological abnormality appears to be a trait marker in bipolar disorders that can be observed even in the euthymic state and that seems to be largely independent of task performance and medication. Hum Brain Mapp, 2010. © 2009 Wiley‐Liss, Inc.     

The role of BDNF methylation and Val66Met in amygdala reactivity during emotion processing

Epigenetic alterations of the brain‐derived neurotrophic factor (BDNF) gene have been associated with psychiatric disorders in humans and with differences in amygdala BDNF mRNA levels in rodents. This human study aimed to investigate the relationship between the functional BDNF‐Val⁶⁶Met polymorphism, its surrounding DNA methylation in BDNF exon IX, amygdala reactivity to emotional faces, and personality traits. Healthy controls (HC, n = 189) underwent functional MRI during an emotional face‐matching task. Harm avoidance, novelty seeking and reward dependence were measured using the Tridimensional Personality Questionnaire (TPQ). Individual BDNF methylation profiles were ascertained and associated with several BDNF single nucleotide polymorphisms surrounding the BDNF‐Val⁶⁶Met, amygdala reactivity, novelty seeking and harm avoidance. Higher BDNF methylation was associated with higher amygdala reactivity (x = 34, y = 0, z = ?26, t₍₁₆₆₎ = 3.00, TFCE = 42.39, p_(FWE) = .045), whereby the BDNF‐Val⁶⁶Met genotype per se did not show any significant association with brain function. Furthermore, novelty seeking was negatively associated with BDNF methylation (r = ?.19, p = .015) and amygdala reactivity (r = ?.17, p = .028), while harm avoidance showed a trend for a positive association with BDNF methylation (r = .14, p = .066). The study provides first insights into the relationship among BDNF methylation, BDNF genotype, amygdala reactivity and personality traits in humans, highlighting the multidimensional relations among genetics, epigenetics, and neuronal functions. The present study suggests a possible involvement of epigenetic BDNF modifications in psychiatric disorders and related brain functions, whereby high BDNF methylation might reduce BDNF mRNA expression and upregulate amygdala reactivity.     

Three-year follow-up of children with open-set speech recognition who use the MED-EL cochlear implant system

Improvement in implant technology and the fact that children with cochlear implants have surpassed all expectations have led the field to believe that open-set speech understanding is a common and expected outcome. The available literature suggests this to be the case in open-set word understanding. This study shows the results of 41 pre-lingually deafened children with a minimum of 3 years' cochlear implant experience assessed on the EARS test battery, which includes open-set phoneme, word and sentence tests. Results show that some open-set skills emerge by 6 months after implantation. There was significant improvement over time, even after 3 years of cochlear implant experience. A significant effect of age at implantation was also demonstrated. Results suggest that cochlear-implanted children develop open-set speech recognition soon after implantation, and these skills develop over a long period of time, highlighting the need for continued therapy to maximize listening and learning.     

Fathers' and mothers' perceptions of their child and maternal depressive symptoms

Fathers' reports concerning their children have seldom been considered in the previous studies on maternal depression and child development. The literature on parental reports in general suggests that discrepancies in mothers' and fathers' perceptions are associated with the psychological state of the parent and the gender of the child. As part of a prospective follow-up study, fathers' and mothers' perceptions of children's social competence and behavioural/ emotional problems were assessed by the Child Behavior Checklists (CBCLs) when the firstborn children were 8–9 years old. The depressive symptoms of the mothers were screened by the Edinburgh Postnatal Depression Scale (EPDS) at the same time point. The level of children's social competence and behavioural/emotional problems reported by the fathers were analysed by background factors. The reports of both parents were explored by the gender of the child and by the presence of maternal depressive symptoms. The concordance of parental reports concerning child's social competence was high, but fathers usually reported lower problem levels than mothers, particularly for boys' problems. The presence of maternal depressive symptoms was associated with child's high problem levels from both fathers' and mothers' perspective. Parental ratings of children's externalizing problems in particular were associated with high maternal depressive symptom level.     

Prenatal morphine exposure alters estrogen regulation of κ receptors in the cortex and POA of adult female rats but has no effects on these receptors in adult male rats

The binding characteristics of κ receptors were assessed in the frontal cortex (CX), striatum, hypothalamus, preoptic area (POA), cerebellum, and ventral tegmental area of adult male and female rats exposed prenatally to morphine or saline. Prenatal morphine exposure altered estrogen regulation of κ receptors in the CX and POA of females, but had no effects on κ receptors in any of the examined brain regions in male rats.     

NAP protects against cyanide-related microtubule destruction

The peptide NAP (NAPVSIPQ) was shown to protect neurons against a wide variety of insults. Particularly, NAP was shown to be neuroprotective in vitro against cyanide in hippocampal cultures and against oxygen-glucose deprivation in hippocampal and cortical neuronal cultures. Cyanide causes energy depletion in the cell and destroys the cytoskeleton, and NAP has been shown before to protect the microtubule cytoskeleton. The current study explored the effect of NAP on cyanide-induced microtubule destruction in cerebral cortical cultures. Sodium cyanide (6.8 mM) reduced the number of neurons containing intact microtubules as identified by bIII-tubulin immunostaining. When sodium cyanide was added together with NAP (10⁻¹⁴–10⁻¹² M), complete protection was observed. Although the primary site of action of cyanide is considered to be the mitochondria, the current results involve microtubule destruction by cyanide toxicity that is completely reversed by NAP treatment.     

Cadmium-induced oxidative stress and antioxidative mechanisms in germinating Indian mustard (Brassica juncea L.) seeds

Cadmium, known as a non-essential heavy metal, can cause oxidative stress in plants. In this study we tried to find out whether oxidative changes could be measured in the early stages of ontogenesis in Indian mustard (Brassica juncea L.) seeds exposed to Cd stress. Cadmium-caused oxidative stress and antioxidative responses were investigated with respect to both time- and concentration-dependence. Parameters that were measured were follows: total antioxidant capacity (ferric reducing ability of plasma (FRAP)), glutathione (GSH) content, level of lipid peroxidation (LP), total protein content, and glutathione-S-transferase (GST, EC 2.5.1.18) activity. Seeds were germinated in vitro at 0, 50, 100 and 200 mg/L Cd concentrations in dark for 12, 24, 48 and 96 h. Oxidative stress occurred in the seeds due to Cd treatment, the level of LP was high at the beginning of the germination at all concentrations used, but it attenuated later on. FRAP showed concentration-dependent increase during 24 h, but it decreased later on. GSH content was also elevated by increasing concentrations of Cd, which referred to the activity of non-enzymatic antioxidant system. The GST activity induced with germination only after 24 h at the highest Cd concentration. The results show that FRAP is a suitable parameter with which to assess the antioxidant capacity of heavy metal-stressed germinating seeds.