Thoracic non-traumatic cardiovascular diseases: current perspective and multi-detectors Computed Tomography protocols optimization in the emergency setting.

Cardiovascular diseases (CVDs) are among the most common causes of access to the Emergency Department and among the leading causes of death worldwide. Accurate diagnostic algorithms are mandatory to ensure a rapid life-saving treatment. However, non-specific clinical presentation and unnecessary referrals to other subspecialties may lead to misinterpretation of the diagnosis and delays. In recent years, the development of imaging technologies has allowed Computed Tomography (CT) to play a prominent role in the concepts of CVD rule-in and rule-out. An optimization strategy for CT protocols is needed to reduce variability and improve image quality. A correct diagnostic suspicion is crucial, as different districts (i.e., heart, aorta and pulmonary circulation) may require different investigation techniques. Additionally, the CVD pre-test probability assessment is highly correlated with CT accuracy. The purpose of this narrative review is to analyze the current role of CT in the approach to the CVDs in the ED, and to analyze the main strategies of CT optimization.

Non-traumatic non-cardiovascular thoracic emergencies: role of imaging.

Patients presenting to the emergency with thoracic symptoms could have a wide variety of causes, even if the traumatic and vascular causes are excluded. Therefore, the diagnosis is often a challenge for emergency physicians. Anamnesis, physical examination and laboratory testing need to be integrated with imaging to get a rapid diagnosis and to distinguish among the potential causes. This review discusses the role of diagnostic imaging studies in the emergency setting in patients with non-traumatic non-cardiovascular thoracic symptoms. The use of chest x-ray, bedside lung Ultrasound and Computed Tomography in the diagnosis and care of these patients have been reviewed as well as the common findings on imaging.

Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.

BACKGROUND: Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN). OBJECTIVE: To determine the frequency of GRN mutations in a cohort of Caucasian patients with FTD without mutations in known FTD genes. METHODS: GRN was sequenced in a series of 78 independent FTD patients including 23 familial subjects. A different Calabrian dataset (109 normal control subjects and 96 FTD patients) was used to establish the frequency of the GRN mutation. RESULTS: A novel truncating GRN mutation (c.1145insA) was detected in a proband of an extended consanguineous Calabrian kindred. Segregation analysis of 70 family members revealed 19 heterozygous mutation carriers including 9 patients affected by FTD. The absence of homozygous carriers in a highly consanguineous kindred may indicate that the loss of both GRN alleles might lead to embryonic lethality. An extremely variable age at onset in the mutation carriers (more than five decades apart) is not explained by APOE genotypes or the H1/H2 MAPT haplotypes. Intriguingly, the mutation was excluded in four FTD patients belonging to branches with an autosomal dominant mode of inheritance of FTD, suggesting that another novel FTD gene accounts for the disease in the phenocopies. It is difficult to clinically distinguish phenocopies from GRN mutation carriers, except that language in mutation carriers was more severely compromised. CONCLUSION: The current results imply further genetic heterogeneity of frontotemporal dementia, as we detected only one GRN-linked family (about 1%). The value of discovering large kindred includes the possibility of a longitudinal study of GRN mutation carriers.

Comparative analysis of the Borrelia garinii genome.

Three members of the genus Borrelia (B.burgdorferi, B.garinii, B.afzelii) cause tick-borne borreliosis. Depending on the Borrelia species involved, the borreliosis differs in its clinical symptoms. Comparative genomics opens up a way to elucidate the underlying differences in Borrelia species. We analysed a low redundancy whole-genome shotgun (WGS) assembly of a B.garinii strain isolated from a patient with neuroborreliosis in comparison to the B.burgdorferi genome. This analysis reveals that most of the chromosome is conserved (92.7% identity on DNA as well as on amino acid level) in the two species, and no chromosomal rearrangement or larger insertions/deletions could be observed. Furthermore, two collinear plasmids (lp54 and cp26) seem to belong to the basic genome inventory of Borrelia species. These three collinear parts of the Borrelia genome encode 861 genes, which are orthologous in the two species examined. The majority of the genetic information of the other plasmids of B.burgdorferii is also present in B.garinii although orthology is not easy to define due to a high redundancy of the plasmid fraction. Yet, we did not find counterparts of the B.burgdorferi plasmids lp36 and lp38 or their respective gene repertoire in the B.garinii genome. Thus, phenotypic differences between the two species could be attributable to the presence or absence of these two plasmids as well as to the potentially positively selected genes.

Kocuria palustris sp. nov. and Kocuria rhizophila sp. nov., isolated from the rhizoplane of the narrow-leaved cattail (Typha angustifolia).

Two Gram-positive, aerobic spherical actinobacteria were isolated from the rhizoplane of narrow-leaved cattail (Typha angustifolia) collected from a floating mat in the Soroksár tributary of the Danube river, Hungary. Sequence comparisons of the 16S rDNA indicated these isolates to be phylogenetic neighbours of members of the genus Kocuria, family Micrococcaceae, in which they represent two novel lineages. The phylogenetic distinctness of the two organisms TA68T and TAGA27T was supported by DNA-DNA similarity values of less than 55% between each other and with the type strains of Kocuria rosea, Kocuria kristinae and Kocuria varians. Chemotaxonomic properties supported the placement of the two isolates in the genus Kocuria. The diagnostic diamino acid of the cell-wall peptidoglycan is lysine, the interpeptide bridge is composed of three alanine residues. Predominant menaquinone was MK-7(H2). The fatty acid pattern represents the straight-chain saturated iso-anteiso type. Main fatty acid was anteiso-C15:0. The phospholipids are diphosphatidylglycerol, phosphatidylglycerol and an unknown component. The DNA base composition of strains TA68T and TAGA27T is 69.4 and 69.6 mol% G+C, respectively. Genotypic, morphological and physiological characteristics are used to describe two new species of Kocuria, for which we propose the names Kocuria palustris, type strain DSM 11925T and Kocuria rhizophila, type strain DSM 11926T.

[Frequency of Nd:YAG capsulotomy after implantation of PMMA and silicon intraocular lenses]. / Frequenz der Nd:YAG-Kapsulotomie nach Implantation von Intraokularlinsen aus PMMA und Silikon.

UNLABELLED: The aim of this investigation was to ascertain the frequency of secondary cataract after implantation of PMMA or Silicone IOLs. PATIENTS AND METHODS: In our series of patients we implanted 900 PMMA IOLs in a period of 4 years. In the following 3 years we implanted 1600 silicone IOLs. After the operation, a Nd:YAG laser capsulotomy was indicated there was a reduction in visual acuity and the patient asked for improvement. With the help of computer documentation we had the possibility to follow up a period of 6 years after PMMA and 3 years after silicone IOL implantation. RESULTS: (1) PMMA IOL: After implantation of PMMA IOLs we found a frequency of 22% capsulotomies during the investigation period of 6 years; 4.9% of them occurred during the 1st year and 8% during the 2nd year. (2) Silicone IOL: During the control period of 3 years we found a capsulotomy rate of 9.9%. Most happened in the 1st year. CONCLUSIONS: Our 22.9% capsulotomy rate after PMMA IOL implantation is lower than the rate mentioned in the literature. We noticed a peak of capsulotomies in the 2nd year after the operation. During a control period of only 3 years after implantation of silicone IOLs we found a capsulotomy rate of 9.9%.

Pseudonocardia asaccharolytica sp. nov. and Pseudonocardia sulfidoxydans sp. nov., two new dimethyl disulfide-degrading actinomycetes and emended description of the genus Pseudonocardia.

Seven bacterial strains capable of oxidizing methyl sulfides were isolated from experimental biofilters filled with tree-bark compost. The isolates could be divided into two groups according to their method of methyl sulfide degradation. Four isolates could use only dimethyl disulfide as the sole source of energy and three strains were able to use dimethyl sulfide and dimethyl disulfide. Oxidation of the methyl sulfides by both groups led to the stoichiometric formation of sulfate. Chemotaxonomic, morphological, physiological and phylogenetic properties identified all isolates as members of the genus Pseudonocardia. The absence of phosphatidylcholine from the polar lipid pattern, as well as results of 16S rDNA analyses, led to the proposal of two new species, Pseudonocardia asaccharolytica sp. nov. and Pseudonocardia sulfidoxydans sp. nov. The type strains are P. asaccharolytica DSM 44247T and P. sulfidoxydans DSM 44248T. With respect to the characteristic polar lipid pattern and the ability to oxidize sulfides, an emended description of the genus Pseudonocardia is proposed.

Macrorestriction analysis of Desulfurella acetivorans and Desulfurella multipotens.

The genomes of the phylogenetically and physiologically unique bacteria Desulfurella acetivorans DSM 5264T and D. multipotens DSM 8415T were characterized and compared by pulsed field gel electrophoresis (PFGE). Macrorestriction patterns made of large PFGE separated DNA fragments were generated by digesting the genomic DNAs of both strains with the rare cutting restriction endonucleases ApaI, AscI, EagI, RsrII, SacII, SalI as well as with the intron encoded endonuclease I-CeuI. The sum of calculated fragment sizes from digests of the first six enzymes yielded estimates for the chromosome sizes of D. acetivorans with a mean of 1939.0 +/- 26.0 kb and for D. multipotens with a mean of 1864.0 +/- 23.0 kb. Within the patterns obtained from EagI and RsrII cleavages the apparent differences could be attributed to DNA insertion or deletion and to point mutation. The single, circular chromosomes of the two strains contain two copies of 23S rRNA genes each. Different extrachromosomal elements were detected in both strains.

[Acute Borrelia infection. Unilateral papillitis as isolated clinical manifestation]. / Akute Borreliainfektion. Einseitige Papillitis als isolierte klinische Manifestation.

BACKGROUND: Borrelia burgdorferi is the cause of erythema chronicum migrans and Lyme disease. Ticks like Ixodes ricinus are responsible for transmission. Frequently, the tick bite is not noticed by the patient. Eye manifestations, such as keratoconjunctivitis, scleritis, chronic uveitis, vitritis, chorioretinitis, optic nerve disease, orbital myositis and paresis of the eye muscles, often occur after a long period of time and vary greatly. PATIENTS AND METHODS: We present below the case reports of a man 38 years old and a woman of 31, each with manifestation of an ocular Borrelia infection (papillitis and panuveitis, respectively). RESULTS: By antibody-screening with the ELISA technique and Western Blot analysis we were able to prove the serological infection. After specific antibiotic therapy, ocular inflammation improved rapidly, as did visual acuity. The papillitis only healed partially. CONCLUSIONS: In case of therapy-resistant inflammation of the eye we have to exclude general infections because cortisone therapy alone may result in worsening the condition. VECP can be used effectively in the differential diagnosis of papilloedemas. Early diagnosis and therapy of an acute Borrelia infection restrict the extent of the lesions and prevent ocular and general late manifestations. Seronegative values in subjects strongly suspected of having Lyme disease do not necessarily exclude the diagnosis of Lyme disease.

Expression and function of CD95 (FAS/APO-1) in leukaemia-lymphoma tumour lines.

Cross-linkage of the CD95 (FAS/APO-1) antigen is responsible for the induction of programmed cell death or apoptosis in a variety of normal and malignant cells of the haemopoietic system. In order to evaluate predominant expression of the CD95 gene in a cell lineage-specific manner, we have determined the CD95 expression patterns in cell lines of myeloid, T-, pre-B- or B-cell origin as well as those established from Hodgkin's disease (HD). Our results reveal constitutive transcriptional activation of the CD95 gene in all cell lines derived from the lymphoid and myeloid lineages. Despite the ubiquitous expression of CD95 transcripts in haemopoietic cells, the corresponding protein was undetectable in 2/5 cell lines derived from Burkitt lymphomas and 6/16 leukaemia cell lines of the megakaryocytic or monocytic lineage. In an effort to identify apoptosis-resistant cell lines resulting from mutations in the death-signalling domain of CD9 5 or from defects in the apoptotic pathway or in survival programmes, we applied a CD95-mediated apoptosis assay. However, 21/38 CD95-expressing cell lines were sensitive upon induction with an anti-CD95 antibody whereas the remaining cell lines (predominantly of myeloid derivation) were resistant to antibody-induced cell death. Resistance to CD95-mediated apoptosis was not due to mutations within the CD95 open reading frame as confirmed by a combined reverse transcription PCR sequencing method. Five myeloid out of 13 tumour lines with the apoptosis-resistance phenotype analysed showed programmed cell death, when protein synthesis was blocked by treatment with cycloheximide prior to CD95-mediated induction. These data suggest an active cellular mechanism for the maintenance of an apoptosis-resistant phenotype. Elucidating the steps in such an active process of resistance to apoptosis might be expected to provide new approaches for therapeutic intervention in certain tumours.

Interest of modafinil, a new psychostimulant, during a sixty-hour sleep deprivation experiment.

Modafinil, a new psychostimulant, was evaluated in eight healthy volunteers subjected to 60 hours of sleep deprivation. During continued wakefulness, vigilance was evaluated by self-assessment questionnaires, analogue visual scales, multiple sleep latency tests (MSLT), sleep logs, and continuous ambulatory electroencephalographic recordings (EEG). Modafinil (200 mg) or a placebo was given every 8 hours for three days; the sessions were separated by a 15 day wash out period. Results indicated a satisfactory level of vigilance, both subjective and objective, after the administration of modafinil, characterised by the quasi total absence of microsleep episodes which gradually occurred under placebo conditions. The confirmed wakening potency of modafinil makes this substance suitable for therapeutic use in patients with sleep disorders such as Gelineau's syndrome and hypersomnia.

Macrorestriction analysis of Pseudomonas aeruginosa in colonized burn patients.

The colonization of hospitalized patients by Pseudomonas aeruginosa at an intensive care unit for burn victims was studied over a one-year period. A total of 231 isolates from 12 patients were analyzed by macrorestriction analysis. The results revealed that most patients were infected with only one to three different strains. In several patients Pseudomonas aeruginosa isolates of the same clonal lineage exhibited considerable differences in their macrorestriction fragment pattern. Digestion with further restriction enzymes, however, allowed differentiation between clonal variants due to a high genetic drift and superinfection with a different Pseudomonas aeruginosa strain. Isolates of the same clonal lineage could be isolated from several patients as well as from the patients' environment. Notably, Pseudomonas aeruginosa could be isolated from sedimentation plates. Thus, patients may have been extensively cross-infected on the ward. These data underline the importance of strict infection control measures and of regular surveillance for Pseudomonas aeruginosa by an appropriate typing method, i.e. one that can differentiate strains with high genomic variability.