The Distressed Brain: A Group Blind Source Separation Analysis on Tinnitus

Background: Tinnitus, the perception of a sound without an external sound source, can lead to variable amounts of distress. Methodology: In a group of tinnitus patients with variable amounts of tinnitus related distress, as measured by the Tinnitus Questionnaire (TQ), an electroencephalography (EEG) is performed, evaluating the patients ’ resting state electrical brain activity. This resting state electrical activity is compared with a control group and between patients with low (N = 30) and high distress (N = 25). The groups are homogeneous for tinnitus type, tinnitus duration or tinnitus laterality. A group blind source separation (BSS) analysis is performed using a large normative sample (N = 84), generating seven normative components to which high and low tinnitus patients are compared. A correlation analysis of the obtained normative components ’ relative power and distress is performed. Furthermore, the functional connectivity as reflected by lagged phase synchronization is analyzed between the brain areas defined by the components. Finally, a group BSS analysis on the Tinnitus group as a whole is performed. Conclusions: Tinnitus can be characterized by at least four BSS components, two of which are posterior cingulate based, one based on the subgenual anterior cingulate and one based on the parahippocampus. Only the subgenual component correlates with distress. When performed on a normative sample, group BSS reveals that distress is characterized by two anterior cingulate based components. Spectral analysis of these components demonstrates that distress in tinnitus is relate

Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience

The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (DHCR7) gene have been determined: missense variant 1) NM_001360.2: c.470T>C (p.Leu157Pro) and 2) nonsense variant c.452G>A (W151*). Therefore the DHCR7 genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists

Ancillary findings assessed by ventilation/perfusion tomography. Impact and clinical outcome in patients with suspected pulmonary embolism.

Ventilation/perfusion tomography (V/P SPECT) is a recommended method for diagnosing and follow-up of pulmonary embolism (PE). Moreover, it is possible to recognize other pathologies in addition to PE, such as pneumonia, COPD and left heart failure (LHF). The objective of this prospective study was to identify frequency of ancillary findings among patients with suspected PE. Patients, material, method: 331 consecutive patients with suspected PE were examined and classified with V/P SPECT. Patients were followed up clinically and by means of other laboratory tests