Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes

Huntington disease (HD) is a well-defined autosomal dominant neurodegenerative disease caused by CAG repeat expansions in HD gene. There are a significant number of HD cases where this mutation was not found and such cases are named HD-like phenotype (HDL). This article reports 48 patients with HDL phenotype. Patients were analyzed on the presence of mutations in prion (PrP), ferritin and junctophilin-3 (JP-3) genes. None of the patients showed the presence of the mutation in analyzed genes. This could suggest that there is some other gene/genes where the mutation can cause the disease with clinical features of HD.     

Dimensions of intelligence in schizophrenia: evidence from patients with preserved, deteriorated and compromised intellect

There is a growing literature describing a subgroup of "high-functioning" people with schizophrenia who show preserved intellectual ability (IQ). A detailed characterisation of the cognitive abilities of this group may be important in targeting appropriate treatment, management and services for patients with schizophrenia. It is a widely held belief that variation in cognitive processing speed is the basis of individual differences in intelligence. The main objective of this study was to identify subgroups of schizophrenia patients with preserved (N=45), deteriorated (N=47) and compromised (N=17) intellect in order to study whether these subgroups differ in specific cognitive abilities (e.g. executive functions) or in general cognitive processing speed, as measured with an inspection time (IT) task. The patients who displayed an average estimated premorbid IQ, with no evidence of IQ decline (premorbid-current IQ difference <10 points), were found to show better performance on measures of executive function (continuous performance task, verbal fluency) compared with patients in the deteriorated and compromised subgroups. Nevertheless, this represented significantly impaired performance relative to healthy controls. In contrast, the average inspection times of patients with preserved IQ were as slow as those obtained in the deteriorated or compromised groups, indicating that high functioning patients are impaired in terms of cognitive processing speed. Furthermore, the average IT for all schizophrenia groups was significantly slower than that of healthy controls. These findings suggest that high functioning patients with schizophrenia exhibit enduring cognitive difficulties that may impact on their ability to benefit from rehabilitation interventions.     

Long-term, open-label study of the safety and efficacy of atomoxetine in adults with attention-deficit/hyperactivity disorder: an interim analysis

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is an early-onset neuropsychiatric disorder that affects 3% to 7% of school-age children and 4% of adults. Its pathophysiology is thought to involve the dopaminergic and nor-adrenergic pathways associated with attention control and impulsivity. These symptoms have largely been defined in the childhood population, but the course of the condition and expression in the adult population are not as well characterized. METHOD: This is an ongoing, 3-year, open-label study consisting of adults with DSM-IV ADHD who were previously enrolled in 1 of 2 double-blind, acute-treatment studies of atomoxetine. The results of the interim analysis reported here were derived from the study of 384 patients at 31 sites who had been studied for a period of up to 97 weeks. The primary efficacy measure was the Conners' Adult ADHD Rating Scale-Investigator Rated: Screening Version (CAARS-Inv:SV) total ADHD symptom score. In addition, safety, adverse events, and vital sign measurements were assessed. RESULTS: Significant improvement was noted with atomoxetine therapy, with mean CAARS-Inv:SV total ADHD symptom scores decreasing 33.2% from 29.2 (baseline of open-label therapy) to 19.5 (endpoint of open-label therapy) (p < .001). Similar and significant decreases were noted for the secondary efficacy measures. Adverse events consisted primarily of pharmacologically (noradrenergic) expected effects, such as increases in heart rate and blood pressure and a slight decrease in weight. CONCLUSION: The results of this interim analysis of an ongoing, open-label study of adults with ADHD support the long-term efficacy, safety, and tolerability of atomoxetine for the treatment of adult ADHD.     

From cAMP to adenosine: an illuminating shift of focus

In a remarkable career, straddling five decades, John Phillis pursued with fierce determination and exceptional energy the main goal of his scientific life, to throw light on the chemical agents that control brain function. Starting in Australia, he settled in North America, first in Canada, then in the USA, where his long tenure at Wayne State brought his career to its culmination.     

Time-frequency component analyser and its application to brain oscillatory activity

Currently, event-related potential (ERP) signals are analysed in the time domain (ERP technique) or in the frequency domain (Fourier analysis and variants). In techniques of time-domain and frequency-domain analysis (short-time Fourier transform, wavelet transform) assumptions concerning linearity, stationarity, and templates are made about the brain signals. In the time-frequency component analyser (TFCA), the assumption is that the signal has one or more components with non-overlapping supports in the time-frequency plane. In this study, the TFCA technique was applied to ERPs. TFCA determined and extracted the oscillatory components from the signal and, simultaneously, localized them in the time-frequency plane with high resolution and negligible cross-term contamination. The results obtained by means of TFCA were compared with those obtained by means of other commonly used techniques of ERP analysis, such as bilinear time-frequency distributions and wavelet analysis. It is suggested that TFCA may serve as an appropriate tool for capturing the localized ERP components in the time-frequency domain and for studying the intricate, frequency-based dynamics of the human brain.     

Treatment of war injuries of the shoulder with external fixators

In this retrospective study, 18 patients with war injuries of the shoulder were reviewed to evaluate the technical problems associated with external fixation and to analyze the incidence of infection and late functional results. The average patient age was 28.5 years. All patients were male. Thirteen patients had explosive wounds, whereas five wounds were caused by gunshot missiles. All injuries were extensive in terms of bone and soft tissue defects. Six patients presented with complex injuries involving neurovascular structures. Sixteen patients were treated with external fixation. Application of the proximal pins of the external fixator through the humeral head was possible in eight patients, the scapula served as the site of proximal fixation in four patients, only the clavicle was available for placement of pins in two patients, and both the scapula and the clavicle had to be pinned to achieve proximal stabilization in two patients. In two patients, fixation was not possible and early amputation was performed. Infection was eventually eradicated in all patients, allowing for adequate soft tissue coverage of the wounds. Analysis of functional results at an average of 6 years after the injury showed a considerable degree of functional deficit in most patients.     

Prevalence of psychotic comorbidity in combat-related post-traumatic stress disorder

OBJECTIVE: We explored the prevalence of comorbidity of psychotic symptoms among Croatian war veterans with combat-related post-traumatic stress disorder (PTSD) and the psychotic features among these patients, as well as the association between psychotic symptoms and personality disorders. METHODS: The study included 680 men who had experienced combat stress and had diagnoses of PTSD confirmed before examination. They were compared with a group of 289 soldiers with combat experience under regular medical examination, who were still in active military service. The groups were matched in duration of combat experience, time elapsed between combat experience and the study, age, marital status, and education. Statistical analyses were performed using the t test and chi2 test. RESULTS: The study showed that 15% of war veterans had current chronic PTSD and 45% had PTSD with one or more comorbid diagnoses. Psychotic disorders with PTSD were confirmed for 17% of those patients and major depressive disorder with psychotic features for 15%. Depression and psychotic symptoms were more often found among patients without personality disorders. Also, we found that 9% of the war veterans who were still in active military service had some psychiatric disorders. CONCLUSIONS: Many patients demonstrated psychotic symptoms different from flashbacks and dissociative symptoms. Those psychotic symptoms are an integral part of PTSD and have a symbolic relation to the trauma.     

Comparison of two therapeutic protocols in patients with antiphospholipid antibodies and recurrent miscarriages

AIM: To compare the effects of two therapeutic protocols for the patients with recurrent miscarriages associated with the presence of antiphospholipid (anticardiolipin) antibodies. METHODS: A prospective observational study included 20 patients with antiphospholipid antibodies in the first group who received low-molecular heparin and aspirin. The second group of 20 patients, in addition to this therapy, received immunotherapy (intravenous immunoglobulin). Aspirin was administered at the time of a positive pregnancy test, and low-molecular heparin not before the fetal heart activity registration by ultrasound. Intravenous immunoglobulin was given prior to the conception or at the beginning of the pregnancy. We compared these groups according to the pregnancy outcomes and the occurrence of complications during pregnancy, using standard statistical tests. RESULTS: The rate of positive gestational outcome in the patients treated with aspirin and low-molecular heparin was 85% (17/20), and in the second group it was 90% (18/20). There was no significant difference in pregnancy outcomes between these groups (p > 0.05), except for the occurence of preeclampsia and thrombocytopenia, which were recorded only in the aspirin and low-molecular heparin group, but with no statistical significance (p > 0.05) compared to the second group, which received immunoglobulin additionally. CONCLUSION: There was no significant difference (p > 0.05) in pregnancy outcomes between the two studied therapeutic protocols, but the therapy with aspirin and low-molecular heparin was cheaper and easier to apply than the therapy with immunoglobulins. The results of our study confirmed that the final pathogenic mechanisms in recurrent fetal miscarriages were inflammation and thrombosis of the uteroplacental blood vessels.