Human cytomegalovirus DNA detection in a recurrent glioblastoma multiforme tumour,but not in whole blood: a case report and discussion about the HCMV latency and therapy perspectives

Journal of NeuroVirology - In the current study, a 58-year-old male patient presented with recurrent glioblastoma multiforme (GBM). The patient underwent surgical resection, 4 months...     

Chloride Ion-Containing Polymeric Ionic Liquids for Application as Electrolytes in Solid-State Batteries

Organic, solid-state batteries require efficient solid electrolytes able to provide stable ion conduction. Here, solid electrolytes based on ionic liquid (IL) polymers with chloride counterions as electrolyte materials for batteries are presented. Acrylic monomers with imidazolium substituents with alkyl side groups that are linked by alkyl spacers to the acrylic group are employed. The IL monomers with chloride counterions are either converted by thermally initiated radical polymerization into linear homopolymers or incorporated into polymer networks by UV-initiated copolymerization utilizing a bifunctional, non-ionic cross-linker. Both procedures successfully yielded the desired materials, which is confirmed by NMR spectroscopy (linear homopolymers) or Raman spectroscopy (IL networks). The ionic conductivities at room temperature are measured by Electrochemical Impedance Spectroscopy. The ionic conductivities of the linear homopolymers are in the range of 10⁻⁴ to 10⁻⁶ S cm⁻¹, while those of the IL networks are about two orders of magnitude lower. They increase to 10⁻⁴ S cm⁻¹ at 70 °C. The electrochemical stability is examined by Linear Sweep Voltammetry and is proven in the voltage range of −2 to +2 V. The results reveal that the materials represent promising electrolytes for potential solid-state battery applications.     

Hippocampal and medial prefrontal cortical volume is associated with overnight declarative memory consolidation independent of specific sleep oscillations

The current study was designed to further clarify the influence of brain morphology, sleep oscillatory activity and age on memory consolidation. Specifically, we hypothesized, that a smaller volume of hippocampus, parahippocampal and medial prefrontal cortex negatively impacts declarative, but not procedural, memory consolidation. Explorative analyses were conducted to demonstrate whether a decrease in slow‐wave activity negatively impacts declarative memory consolidation, and whether these factors mediate age effects on memory consolidation. Thirty‐eight healthy participants underwent an acquisition session in the evening and a retrieval session in the morning after night‐time sleep with polysomnographic monitoring. Declarative memory was assessed with the paired‐associate word list task, while procedural memory was tested using the mirror‐tracing task. All participants underwent high‐resolution magnetic resonance imaging. Participants with smaller hippocampal, parahippocampal and medial prefrontal cortex volumes displayed a reduced overnight declarative, but not procedural memory consolidation. Mediation analyses showed significant age effects on overnight declarative memory consolidation, but no significant mediation effects of brain morphology on this association. Further mediation analyses showed that the effects of age and brain morphology on overnight declarative memory consolidation were not mediated by polysomnographic variables or sleep electroencephalogram spectral power variables. Thus, the results suggest that the association between age, specific brain area volume and overnight memory consolidation is highly relevant, but does not necessarily depend on slow‐wave sleep as previously conceptualized.     

Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

The heavy chain 1 of cytoplasmic dynein (DYNC1H1) is responsible for movement of the motor complex along microtubules and recruitment of dynein components. Mutations in DYNC1H1 are associated with spinal muscular atrophy (SMA), hereditary motor and sensory neuropathy (HMSN), cortical malformations, or a combination of these. Combining linkage analysis and whole‐exome sequencing, we identified a novel dominant defect in the DYNC1H1 tail domain (c.1792C>T, p.Arg598Cys) causing axonal HMSN. Mutation analysis of the tail region in 355 patients identified a de novo mutation (c.791G>T, p.Arg264Leu) in an isolated SMA patient. Her phenotype was more severe than previously described, characterized by multiple congenital contractures and delayed motor milestones, without brain malformations. The mutations in DYNC1H1 increase the interaction with its adaptor BICD2. This relates to previous studies on BICD2 mutations causing a highly similar phenotype. Our findings broaden the genetic heterogeneity and refine the clinical spectrum of DYNC1H1, and have implications for molecular diagnostics of motor neuron diseases.     

Post-traumatic onset of secondary progression of gynecomastia

Gynecomastia is a benign enlargement of the male breast which can be a source of significant anxiety and embarrassment for the patients. A great variety of etiologic factors have been investigated and discussed. However, only few studies in the literature have accentuated on the possible role of the chronic tissue trauma for the de novo development of gynecomastia. Nevertheless, the exact mechanism of its onset in such cases remains unclear. The authors report on a case of posttraumatic unilateral progression of preexisting stable gynecomastia. The possible role of a single episode of acute trauma as a trigger mechanism for the new onset of the breast enlargement is discussed.Level of Evidence: Level V, risk/prognostic study.     

Validation of two survey diagnostic interviews among primary care attendees: a comparison of CIS-R and CIDI with SCAN ICD-10 diagnostic categories

BACKGROUND: The most widely used survey measures in psychiatry, the Composite International Diagnostic Interview (CIDI) and the Clinical Interview Schedule-Revised (CIS-R) have generated estimates of psychiatric morbidity that show considerable variation. Doubts have been raised regarding the validity of these structured lay interviewer assessments. There have been no direct comparisons of the performances of these instruments against a common, established criterion. METHOD: A total of 105 unselected primary care attendees were each interviewed with CIDI, CIS-R and SCAN in a single sitting with random order of administration. SCAN was administered by a SCAN trained psychiatrist, and CIDI and CIS-R by a public health doctor. Concordance was estimated for all ICD-10 neurotic disorders. We assessed the overall discriminability of the CIS-R morbidity scale using a receiver operating characteristic (ROC) analysis. RESULTS: The concordance for CIDI for ICD-10 diagnoses was moderate to excellent (kappa= 0.58-0.97). Concordance for CIS-R ranged between poor and moderate (kappa = 0.10-0.65). The area under the ROC curve for the CIS-R morbidity scale with respect to any ICD-10 disorder [0.87 (95% CI 0.79-0-95)] indicated good overall discriminability, but poor sensitivity (44%) and high specificity (97%) at the usual CIS-R cut-point of 11/12. CONCLUSION: Among primary care attendees the CIDI is a highly valid assessment of common mental disorders, and the CIS-R is moderately valid. Previous studies may have underestimated validity. Against the criteria of all ICD-10 diagnoses (including less severe depressive and anxiety disorders) a much lower CIS-R cut-point is required than that which is usually advocated.     

Is there a contradiction between telemedicine and business?

Is there a contradiction between telemedicine and business? The driving forces in the telemedicine market are: competition within the health-care industry, newly developed cheap information technology (especially the Internet) and 21st-century health-care consumers, with their expectations of free choice and a high level of health-care. The market has four segments (citizens, patients, professionals and employees) and the boundaries between these segments are blurred. The telemedicine market is obviously growing, but it is still unstructured, fractured and disorganized. The telemedicine market needs a meeting place where the status of telemedicine and telecare can be reviewed. This would be a place in which to explore new ways to improve the efficiency of health-care services and a forum in which to draw a roadmap for future developments. One such place is the International Trade Event and Conference for eHealth, Telemedicine and Health ICT, Med-e-Tel. At the 2004 event, there were 32 exhibitors from 23 countries and over 400 industry and medical participants. A survey of participants showed that the event was judged to be a success. There is no conflict between telemedicine and business. On the contrary, telemedicine is a promising area of business development.     

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families

Germline mutations in succinate dehydrogenase subunits B, C and D (SDHB, SDHC and SDHD), genes encoding subunits of mitochondrial complex II, cause hereditary paragangliomas and phaeochromocytomas. In SDHB (1p36)- and SDHC (1q21)-linked families, disease inheritance is autosomal dominant. In SDHD (11q23)-linked families, the disease phenotype is expressed only upon paternal transmission of the mutation, consistent with maternal imprinting. However, SDHD shows biallelic expression in brain, kidney and lymphoid tissues (Baysal et al., 2000). Moreover, consistent loss of the wild-type (wt) maternal allele in SDHD-linked tumours suggests expression of the maternal SDHD allele in normal paraganglia. Here we demonstrate exclusive loss of the entire maternal chromosome 11 in SDHD-linked paragangliomas and phaeochromocytomas, suggesting that combined loss of the wt SDHD allele and maternal 11p region is essential for tumorigenesis. We hypothesize that this is driven by selective loss of one or more imprinted genes in the 11p15 region. In paternally, but not in maternally derived SDHD mutation carriers, this can be achieved by a single event, that is, non-disjunctional loss of the maternal chromosome 11. Thus, the exclusive paternal transmission of the disease can be explained by a somatic genetic mechanism targeting both the SDHD gene on 11q23 and a paternally imprinted gene on 11p15.5, rather than imprinting of SDHD.     

Age-related changes of the dentate nuclei in normal adults as revealed by 3D fast low angle shot (FLASH) echo sequence magnetic resonance imaging

Abstract. The aim of the present study was to investigate age-related changes in iron-deposition in dentate nuclei using iron-induced susceptibility effects in magnetic resonance imaging. MR images from 74 healthy subjects (age range 20–68 years) were obtained using a three-dimensional (3D) T1-weighted fast low angle shot (FLASH) echo sequence. Signal intensities of the dentate nuclei and cerebellar white matter were bilaterally measured independently by three blinded investigators. The signal intensities of dentate nuclei were intraindividually normalised to the corresponding signal intensities of the cerebellar white matter of corresponding slices. Mean normalised signal intensities were correlated with age and compared between different age decades and gender. Intraclass correlation coefficients were high (dentate nuclei: 0.98, cerebellar white matter: 0.75) indicating sufficient interrater reliabilities for the determination of signal intensities. Bland-Altman analysis confirmed this finding. The normalised mean signal intensity of the dentate nuclei correlated inversely with age (r = –0.462, p < 0.0001). Comparison of age decades revealed that significant decreases took place between the third and fourth decade and to a lesser degree between the fourth and fifth decade. Moreover, variability of normalised mean signal intensities of the dentate nuclei increased significantly with age (r = 0.964, p = 0.008). There were no differences of the normalised mean signal intensities between genders. The present study revealed an agedependent decrease of signal intensities in dentate nuclei most likely reflecting an age-dependent increase in dentate iron concentration. These age-dependent changes have to be taken into account in interpretation of disease related MR changes of cerebellar nuclei in patients with degenerative or acquired cerebellar ataxia.     

A microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with increased bilirubin and HDL levels but not with coronary artery disease

Heme oxygenase 1 (HO-1) is involved in the generation of the endogenous anti-oxidant bilirubin which exerts beneficial effects against arteriosclerosis. A (GT) repeat polymorphism in the HO-1 promoter region modulates HO-1 expression in response to oxidative stress. Recently, this polymorphism has been reported to protect from coronary artery disease in Orientals. We intended to confirm this observation in Caucasians. We studied 649 individuals with myocardial infarction (n=258), stable coronary artery disease (n=180) and controls without coronary artery disease (n=211). Carriers of short alleles (<25 repeats) had higher bilirubin levels (median 0.66 mg/dL, IQR 0.49 to 0.91) compared to non-carriers (median 0.61 mg/dL, IQR 0.45 to 0.82; p=0.03) and a more favourable lipid profile (HDL median 47 mg/dL, IQR 40 to 50 vs. median 45, IQR 37 to 55, p=0.01; triglycerides median 118 mg/dL, IQR 87 to 174 vs. median 132, IQR 97 to 191, p=0.03). However, no significant differences of the genotype distribution were observed between the three groups in this Caucasian study population (p=0.94). Although potentially beneficial effects of the short HO-1 allele on lipid profile and serum bilirubin were observed, in contrast to Orientals, the HO-1 genotype was not associated with coronary artery disease in Caucasians.