Asphyxie positionnelle: une cause de décès induffisamment connue

L'asphyxie positionnelle (AP) est une entité fatale consistant en une entrave mécanique des mouvements respiratoires, due à la position du corps. Les conséquences en sont une hypoventilation alvéolaire importante et, le cas échéant, une hyperexcitabilité cardiaque. Cette dernière se produit en raison d'une acidose respiratoire associée à une libération massive de catécholamines lorsqu'un individu est entravé et soumis à une contrainte physique. Ainsi, ce syndrome, qui peut se produire lors de diverses circonstances, est surtout observé lors de contraintes physiques et en association avec un Excited delirium (ED). Le diagnostic de l'AP se base essentiellement sur trois critères : une position corporelle entravant l'échange normal de gaz, l'impossibilité de se libérer de cette position et l'exclusion d'autres causes possibles de décès.

Urinary saturation and nephrocalcinosis in preterm infants: effect of parenteral nutrition.

Urinary lithogenic and inhibitory factors were studied in 27 preterm infants; 16 had total parenteral nutrition (TPN) and 11 had breastmilk with an additional glucose-sodium chloride infusion. Urines were collected for 24 hours on day 2 (period A), day 3 (B), and once between days 4 and 10 (C). Urinary calcium oxalate saturation was calculated by the computer program EQUIL 2. Renal ultrasonography was performed every second week until discharge. The calcium/creatinine ratio increased in infants on TPN (A 0.91; C 1.68 mol/mol) and was significantly higher at period C than that in infants on breastmilk/infusion (A 0.52; C 0.36). The oxalate/creatinine ratio was persistently higher with TPN (203 mmol/mol) than with breastmilk/infusion (98; 137). The citrate/creatinine remained constant with TPN (0.44 mol/mol), whereas it increased significantly with breastmilk/infusion (0.26; 0.49). Calcium/citrate rose considerably with TPN, but decreased with breastmilk/infusion to a significantly lower level than with TPN. The urinary calcium oxalate saturation increased with TPN (2.4; 4.5) and decreased with breastmilk/infusion (2.1; 1.5) to a significantly lower value than with TPN. Nephrocalcinosis developed in two infants on TPN. Mean daily calcium intake was similar in both groups, whereas protein, sodium, and phosphorus intake were significantly higher on TPN. It is concluded that the increase in urinary calcium oxalate saturation observed with TPN is due to the combined effect of an increased urinary calcium excretion and higher urinary oxalate/creatinine and calcium/citrate ratios. The changes observed are likely to be caused by TPN itself, which differs in several respects from breastmilk feeding.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

PURPOSE: Mutations in genes encoding proteins from the tri-snRNP complex of the spliceosome account for more than 12% of cases of autosomal dominant retinitis pigmentosa (adRP). Although the exact mechanism by which splicing factor defects trigger photoreceptor death is not completely clear, their role in retinitis pigmentosa has been demonstrated by several genetic and functional studies. To test for possible novel associations between splicing factors and adRP, we screened four tri-snRNP splicing factor genes (EFTUD2, PRPF4, NHP2L1, and AAR2) as candidate disease genes. METHODS: We screened up to 303 patients with adRP from Europe and North America who did not carry known RP mutations. Exon-PCR and Sanger methods were used to sequence the NHP2L1 and AAR2 genes, while the sequences of EFTUD2 and PRPF4 were obtained by using long-range PCRs spanning coding and non-coding regions followed by next-generation sequencing. RESULTS: We detected novel missense changes in individual patients in the sequence of the genes PRPF4 and EFTUD2, but the role of these changes in relationship to disease could not be verified. In one other patient we identified a novel nucleotide substitution in the 5' untranslated region (UTR) of NHP2L1, which did not segregate with the disease in the family. CONCLUSIONS: The absence of clearly pathogenic mutations in the candidate genes screened in our cohort suggests that EFTUD2, PRPF4, NHP2L1, and AAR2 are either not involved in adRP or are associated with the disease in rare instances, at least as observed in this study in patients of European and North American origin.

Telomere length dynamics in normal individuals and in patients with hematopoietic stem cell-associated disorders.

The telomere length in nucleated peripheral blood (PB) cells indirectly reflects the mitotic history of their precursors: the hematopoietic stem cells (HSCs). The average length of telomeres in PB leukocytes can be measured using fluorescence in situ hybridization and flow cytometry (flow FISH). We previously used flow FISH to characterize the age-related turnover of HSCs in healthy individuals. In this review, we describe results of recent flow FISH studies in patients with selected hematopoietic stem cell-associated disorders: chronic myelogenous leukemia (CML) and several bone marrow failure syndromes. CML is characterized by a marked expansion of myeloid Philadelphia chromosome positive (Ph+) cells. Nevertheless, nonmalignant (Ph-) HSCs typically coexist in the bone marrow of CML patients. We analyzed the telomere length in > 150 peripheral blood leukocytes (PBLs) and bone marrow samples of patients with CML as well as samples of Ph- T-lymphocytes. Compared to normal controls, the overall telomere fluorescence in PBLs of patients with CML was significantly reduced. However, no telomere shortening was observed in Ph- T-lymphocytes. Patients in late chronic phase (CP) had significantly shorter telomeres than those assessed earlier in CP. Our data suggest that progressive telomere shortening is correlated with disease progression in CML. Within the group of patients with bone marrow failure syndromes, we only found significantly shortened telomeres (compared to age-adjusted controls) in granulocytes from patients with aplastic anemia (AA). Strikingly, the telomere length in granulocytes from AA patients who had recovered after immunosuppressive therapy (recAA) did not differ significantly from controls, whereas untreated patients and nonresponders with persistent severe pancytopenia (sAANR) showed marked and significant telomere shortening compared to healthy donors and patients with recAA. Furthermore, an inverse correlation between age-adjusted telomere length and peripheral blood counts was found in support of a model in which the degree of cytopenia and the amount of telomere shortening are correlated. These results support the concept of extensive proliferation of HSCs in subgroups of AA patients and suggest a potential use of telomere-length measurements as a prognostic tool in this group of disorders as well.

Tumor localization of radiolabeled antibodies against carcinoembryonic antigen in patients with carcinoma: a critical evaluation.

Purified, [131I]-labeled goat antibodies against carcinoembryonic antigen, which have been shown to localize in human carcinoma in nude mice, were injected into 27 patients with carcinoma. Patients were scanned with a scintillation camera at various intervals. In 11 patients, radioactivity was detectable in the tumor 48 hours after injection. Computerized subtraction of blood-pool radioactivity provided clearer pictures in positive cases, but in 16 patients the scans remained doubtful or negative. To study the specificity of [131I]-antibody localization, we gave some patients simultaneous injections of [125I]-labeled normal IgG. Both isotopes were measured by means of scintillation counting in tumors and normal tissues recovered after surgery. The results demonstrated that only the anti-CEA antibodies localized in tumors. However, the total antibody-derived radioactivity in the tumor was only about 0.001 of the injected dose. We conclude that, despite the present demonstration of specificity, this method of tumor detection is not yet clinically useful.

The Same, but Different: Central Banks, Regulatory Agencies, and the Politics of Delegation to Independent Authorities

Independent regulatory agencies are the institutional foundations of the regulatory state that, during the past 15 years, has gained prominence throughout Europe. This article studies the rise of independent authorities in European countries by comparing regulatory agencies and central banks. Delegation to independent central banks and to independent regulatory agencies is similar in many respects. In both cases, agents are deliberately made independent from political principals through a specific institutional design. Moreover, it has been argued that delegation to both central banks and regulatory agencies is linked to the need for policy-makers to improve the credibility of policy commitments, to the wish of incumbent politicians to tie the hands of future majorities, and to the extent to which the institutional contexts safeguard policy stability. Through an analysis of the formal independence of central banks and regulatory agencies in Western Europe, this article identifies an empirical puzzle that casts doubts on the accuracy of current explanations. Veto players and the uncertainty of incumbent policy-makers in respect to their re-election prospects matter for delegation to both central banks and regulatory agencies, but in opposite ways. Making sense of these anomalies is necessary to achieve a better understanding of delegation to independent authorities.

Entre la pluma y la pared: una historia de la cultura escrita en los Siglos de Oro

Reseña de: Entre la pluma y la pared: una historia de la cultura escrita en los Siglos de Oro. Castillo Gómez, Antonio. Madrid: Akal, 2006; 303 p.: il.; 22 cm. (Akal Universitaria. Historia Moderna; 248)

Electronic Business Model for International Software Market

Tämän diplomityön tavoitteena on muodostaa sähköinen liiketoimintamalli kansainvälisen ohjelmistoyrityksen tarpeisiin. Ohjelmiston uusi ominaisuus antaa kolmansille osapuolille mahdollisuuden määritellä itse rakennusmallintamisessa tarvittavia komponentteja, mikä luo mahdollisuuden uuteen liiketoimintaan. Liiketoimintamallien teoria ja asiantuntijoiden haastattelut tulevat osoittamaan, että paras ratkaisu tässä tapauksessa on portaali, joka rakentuu komponenttimarkkinoista, e-kaupasta ja virtuaaliyhteisöstä. Komponenttimarkkinat on jaettu vapaaseen vaihdantaan ja sertifioitujen kehittäjien kaupankäyntiin. Tämä tarjoaa mahdollisuuksia kehittäjille valita sitoutuneisuutensa taso, samoin kuin motivoi heitä osallistumaan. E-kauppa on suunniteltu sovelluksille ja monimutkaisemmille komponenteille. Virtuaaliyhteisön kautta käyttäjät voivat keskustella mielipiteistään ja saada tukea ohjelmiston käyttämiseen sekä komponenttien kehittämiseen.

Interplays between mouse mammary tumor virus and the cellular and humoral immune response.

Mouse mammary tumor virus has developed strategies to exploit the immune response. It requires vigorous immune stimulation to achieve efficient infection. The infected antigen-presenting cells present a viral superantigen on the cell surface which stimulates strong CD4-mediated T-cell help but CD8 T-cell responses are undetectable. Despite the high frequency of superantigen-reactive T cells, the superantigen-induced immune response is comparable to classical antigen responses in terms of T-cell priming, T-cell-B-cell collaboration as well as follicular and extra-follicular B-cell differentiation. Induction of systemic anergy is observed, similar to classical antigen responses where antigen is administered systemically but does not influence the role of the superantigen-reactive T cells in the maintenance of the chronic germinal center reaction. So far we have been unable to detect a cytotoxic T-cell response to mouse mammary tumor virus peptide antigens or to the superantigen. This might yet represent another step in the viral infection strategy.