A case of pseudo-aprosencephaly

We present a case of rare, severe brain malformations. In a microcephalic premature newborn only a small structure found in the base of the cranium corresponded to the prosencephalic part of the brain. The basal ganglia were lacking and the cortico-subcortical area changed into empty vesicles with only small fragments of cortical stripe. This picture authorises us to speak on the probably complex pathomechanism of anomalies: genetically caused malformations including underdevelopment of telencephalic nuclei and additional occurrence of extrinsic lesions leading to pseudo-aprosencephaly formation.     

Facial recognition test in the elderly: norms, reliability and premorbid estimation

The Facial Recognition Test (Benton, Hamsher, Varney, & Spreen, 1983; Benton, Sivan, Hamsher, Varney, & Spreen, 1994) was examined in an age-, education- and gender-stratified sample of 346 healthy older adults. Internal consistency reliability estimates were.72 for the Long Form (FRLF),.53 for the Short Form, and.69 for a new short form. Mean FRLF scores did not change over a 1-year interval (p >.5), and the stability estimate was.71 (n = 100). The first of the methods below yielded the highest correlation between estimated and obtained FRLF scores in cross-validation (n = 67): (1) multiple regression based on oral reading and demographics, (2) multiple regression based on age, education and gender, and (3) mean scores by age group.     

Mild dystrophic damage in the androgen-sensitive levator ani muscle of the mdx mouse

The time course of muscular dystrophy on the androgen-sensitive levator ani muscle was compared to that of the diaphragm of dystrophic (mdx) mice aged 1-20 months. Muscle growth, isometric contractile properties and caffeine-induced contractures were determined to assess the hormone myotrophic effect, muscle strength and sarcoplasmic reticulum function, respectively, of both control and dystrophic muscles. Histological analysis of mdx muscles showed variable fiber size, centronucleated cells, infiltration of connective tissue, and necrosis which was less severe in the levator ani than in the diaphragm muscle. Tetanic tension per unit weight in the mdx levator ani was reduced (29%) after aging, while the contraction time remained unchanged. The tetanic tension of the mdx diaphragm muscle decreased with age from 3 to 20 months (20-64%), and the relaxation time was prolonged after aging (22%). Gonadectomy of young adult mdx mice caused atrophy of the levator ani muscle, accelerated muscle wasting, reduced the tetanic force (31%), but it did not affect the contraction time and caffeine responses. The results showed that testosterone does not prevent the progress of muscle disease in the mdx levator ani, but androgen withdrawal accelerates muscle wasting suggesting a normonal beneficial effect.     

A naturalistic study of referred children and adolescents with obsessive-compulsive disorder

OBJECTIVE: To report on clinical features, comorbidity, and response to pharmacotherapy in children and adolescents with obsessive-compulsive disorder (OCD) naturalistically followed and treated with serotonin reuptake inhibitors (SRIs). METHOD: A consecutive series of 94 patients (65 males, 29 females, age 13.6 +/- 2.8 years), referred in the period January 2001-April 2004, diagnosed with a clinical interview (Diagnostic Interview for Children and Adolescents-Revised), and followed for 10 +/- 6 months, were included in the study. RESULTS: Contamination obsessions and washing rituals were associated with less impairment than other subtypes of OCD. Aggressive sexual obsessions and checking rituals as well as symmetry obsessions and ordering-repeating rituals were more frequently comorbid with tic disorders. According to the Clinical Global Impressions-Improvement scale (score 1 or 2), 63 subjects (67%) were responders to treatment. Nonresponders were more severely impaired and had a higher number of comorbid disorders, namely, bipolar disorder and conduct disorder (p < .05). Forty-seven patients (50%) received an SRI monotherapy, whereas the other 47 (50%) needed other medications. Patients receiving SRI monotherapy were less severely impaired; had a later onset of OCD; were at a younger age at the visit, had higher rates of depression and anxiety and lower rates of bipolar disorder, attention-deficit/hyperactivity disorder, and conduct disorder (p < .05). CONCLUSIONS: Long-term naturalistic prospective studies in pediatric patients with OCD might represent an important source of information for everyday care regarding the effectiveness of a treatment over extended periods of time under routine clinical conditions.     

Protection with estradiol in developmental models of apoptotic neurodegeneration

Medical measures that bear no known danger for the adult brain may trigger active neuronal death in the developing brain. Pharmacological blockade of N-methyl-D-aspartate or activation of GABA(A) receptors, blockade of voltage-dependent sodium channels, and oxygen induce widespread apoptotic neurodegeneration during the period of rapid brain growth in rodents. Because such measures are often necessary in critically ill infants and toddlers, search for adjunctive neuroprotective strategies is warranted. We report that 17beta-estradiol ameliorates neurotoxicity of drugs that block N-methyl-D-aspartate receptors, activate GABA(A) receptors, or block voltage-gated sodium channels and reduces neurotoxicity of oxygen in the infant rat brain. This neuroprotective effect is reversed by tamoxifen and cannot be reproduced by 17alpha-estradiol. 17Beta-estradiol did not affect GABA(A) or N-methyl-D-aspartate currents in hippocampal neuronal cultures, indicating that direct modulation of neurotransmitter receptor/channel properties by this compound cannot explain neuroprotective effect. 17beta-Estradiol did, however, increase levels of phosphorylated extracellular signal-regulated kinase 1/2 and AKT, suggesting that activation of these prosurvival proteins may represent one mechanism for its neuroprotective action. 17Beta-estradiol and related compounds may be neuroprotective agents suitable for use in critically ill infants and toddlers. Its supplementation may particularly help to improve neurocognitive outcome in preterm infants who are prematurely deprived of maternal estrogen.     

Translation and validation of the Depression Outcomes Module (DOM) in Greece

In Greece, as in other countries, major depressive disorder is underdiagnosed. Its severity, implications and outcomes are often not adequately evaluated. The Depression Outcomes Module (DOM) was developed in order to meet the need for a global assessment of this disorder. The objective of the current study was to estimate the psychometric properties of DOM in a Greek population presenting depressive symptoms. The DOM was translated into Greek. Patients were examined twice (baseline and follow-up assessment). The psychometric properties of DOM were calculated. Subjects were 83 psychiatric inpatients and outpatients presenting depressive symptoms. The measures used were DOM, Structured Clinical Interview for DSM III-R (SCID) and Hamilton Rating Scale for Depression (Ham-D). The results were: (a) baseline assessment: test-retest reliability k = 0.90, internal consistency 0.93, sensitivity 97%, specificity 90%; (b) follow up assessment: test-retest reliability k = 0.89, sensitivity 81% and specificity 67%. Recovery from depression detected by DOM at the follow-up was significantly correlated both with pharmacotherapy and with a combination of pharmacotherapy and supportive psychotherapy. It was concluded that the Greek version of DOM is a comprehensive, useful instrument for diagnosing, assessing depression and evaluating its outcomes.     

Molecular approach to the nucleo-melanosomal interaction in human melanoma cells

This paper presents evidence that L-tyrosine oxidation products and 5,6-dihydroxyindole, an intermediate of melanin synthesis bind to and modify DNA structure, as tested by extracting cell DNA, using topoisomerase I and denaturation assays. When supercoiled plasmid pCU18 or pBR322 DNAs are treated with 5,6-dihydroxyindole the supercoiled species disappear and are converted to species less mobile in a gel retardation test with respect to relaxed DNA. 5,6-Dihydroxyindole causes an easier acid denaturation of the double helix. The results, that are dose dependent,would point to both intercalation and cross-linking of DNA by 5,6-dihydroxyindole and its oxidation product(s). ³H-L-tyrosine deriving radioactivity, bound to nuclear DNA, is higher at low pH, (5.6) if compared to pH 6.8. The highest radioactivity bound to cell DNA is found during the transition from the amelanotic to the melanotic phenotype in human melanoma cell lines. As a control, the binding of ³H-L-tyrosine radioactivity to human prostate fibroblast DNA was investigated.