Prévalence des variations du développement sexuel (VDS), notamment de la résistance complète aux androgènes, chez les filles avec hernie inguinale et mise en place d'un protocole de prise en charge

PROBLÉMATIQUE L'insensibilité complète aux androgènes (CAIS) est l'une des causes de variation du développement sexuel de type XY et est liée à une mutation touchant le récepteur aux androgènes sur le chromosome sexuel X, impliquant une insensibilité complète à ceux-ci. Ce syndrome touche 0.8-2.4% des filles prémenstruées présentant une hernie inguinale. Inversement, 80-90% des filles atteintes par le CAIS présentent des hernies inguinales uni- ou bilatérales. Malheureusement, cette pathologie impliquant une stérilité et un haut risque de tumeur gonadique à l'âge adulte (14-20%), n'est que très peu recherchée par les pédiatres comme le démontre une étude menée en Grande-Bretagne ces dernières années. BUT DE L'ÉTUDE Identifier les patientes ayant les chromosomes sexuels XY dans une population de filles avec hernie inguinale uni- ou bilatérale. MÉTHODE Nous avons contacté toutes les filles/femmes opérées pour une cure de hernie inguinale entre 2004 et 2013 par courrier afin qu'elles répondent à un court questionnaire. Les patientes non-menstruées et d'accord de nous rencontrer ont été vues durant l'été et l'automne 2015. Des analyses ADN sur frottis buccal ont été proposées pour tester les chromosomes sexuels. 24 frottis buccaux ont été réalisés afin de tester la présence de chromosome Y (extraction de l'ADN et amplification par PCR, puis électrophorèse). RÉSULTATS Le chromosome Y n'a été retrouvé chez aucune des 24 patientes que nous avons testées. Toutes ces filles ont les chromosomes sexuels XX comme la très grande majorité des femmes. CONCLUSION Même si nous n'avons découvert aucune nouvelle fille/femme atteinte d'un CAIS durant cette période, nous estimons qu'il est important de rechercher un CAIS chez toutes les filles présentant une hernie inguinale afin de leur donner les informations concernant ce syndrome et ses conséquences le plus rapidement possible. Il faut envisager une prise en charge avec un diagnostic génétique, un screening familial des filles/femmes et finalement thérapeutique (éventuellement gonadectomie après la puberté)

LABELING OF MURINE MASTOCYTOMA CELLS IN VITRO WITH PLASMA TRITIATED THYMIDINE-LABELED ANIMALS

40 min after injecting tritiated thymidine into an animal, 20–30% of the total plasma radioactivity is nonvolatile. This fraction decreases to about 6% 10 hr after the injection and 3% 24 hr after the injection. There appears to be material in this nonvolatile fraction that can label mastocytoma cells in culture. The labeling indices decrease with time after injection in the same way as the nonvolatile fraction. The 40 min plasma sample contains sufficient material to allow accurate assessment of the fraction of cells in S in culture after a 6 wk exposure. The circulating material is not apparently available for incorporation into those cells in cycle in the donor animal. The material appears to be related to the G0 cell-specific pool that has been described elsewhere. The trichloroacetic acid-soluble or ethanol-soluble nonvolatile activity appears to contain thymine, and some thymidine-phosphorylated compounds

RHABDOMYOLYSIS INDUCED BY ANAESTHESIA WITH INTRAOPERATIVE CARDIAC ARREST

A 9-year-old boy undergoing anaesthesia including suxamethonium and halothane suffered cardiac arrest on two occasions. Clinical and laboratory examination subsequently showed that the patient had suffered from acute rhabdomyolysis. The eventual recovery was satisfactor

Holter monitoring for syncope: diagnostic yield in different patient groups and impact on device implantation

Background: Holter monitoring is routinely used in patients referred for the evaluation of syncope, but its diagnostic value in different patient groups is unclear, as is its impact on device implantation (pacemaker or cardioverter-defibrillator). Aim: To determine the diagnostic yield of Holter monitoring in the routine evaluation of syncope, and its impact on subsequent device implantation. Design: Retrospective record review. Methods: We reviewed all Holter studies in patients referred with syncope between 2000 and 2005. Strict criteria were applied to determine whether a study was diagnostic. The diagnostic value of Holter monitoring (overall and in five subgroups: age, gender, structural heart disease, ejection fraction, medication) and its impact on the implantation of devices, were determined. Results: Of 4877 Holter studies, 826 were performed in patients with syncope (age 72 ± 15 years): 71 (8.6%) were considered to explain the syncope. Structural heart disease, ejection fraction and age were significant predictors of a diagnostic study (all p < 0.01), whereas gender and cardiac medication were not. A device was implanted in 33 patients (4.4%) whose initial Holter did not explain their syncope, after mean 7 months, whereas 45 patients (5.4%) received a pacemaker based on the Holter results (p = 0.32). Discussion: The overall diagnostic yield of Holter monitoring in the evaluation of syncope was 8.6%, with dramatic differences between subgroups. Our data suggest that the impact of Holter monitoring on device implantation is generally overestimate

Validating ocean tide loading models using GPS

Abstract.: Ocean tides cause periodic deformations of the Earth's surface, also referred to as ocean tide loading (OTL). Tide-induced displacements of the Earth's crust relying on OTL models are usually taken into account in GPS (Global Positioning System) data analyses. On the other hand, it is also possible to validate OTL models using GPS analyses. The following simple approach is used to validate OTL models. Based on a particular model, instantaneous corrections of the site coordinates due to OTL are computed. Site-specific scale factors, f, for these corrections are estimated in a standard least-squares adjustment process of GPS observations together with other relevant parameters. A resulting value of f close to unity indicates a good agreement of the model with the actual site displacements. Such scale factors are computed for about 140 globally distributed IGS (International GPS Service) tracking sites. Three OTL models derived from the ocean tide models FES95.2.1, FES99, and GOT00.2 are analyzed. As expected, the most reliable factors are estimated for sites with a large loading effect. In general, the scaling factors have a value close to unity and no significant differences between the three ocean tide models could be observed. It is found that the validation approach is easy to apply. Without requiring much additional effort for a global and self-consistent GPS data analysis, it allows detection of general model misfits on the basis of a large number of globally distributed sites. For detailed validation studies on OTL models, the simultaneous estimation of amplitudes and phases for the main contributing partial tides within a GPS parameter adjustment process would provide more detailed answer

Characterization and financial impact of implantable cardioverter-defibrillator patients without interventions 5 years after implantation

Background: Implantable cardioverter defibrillators (ICD's) are increasingly used for primary and secondary prevention of sudden cardiac death. However, data on how many ICD patients indeed receive appropriate ICD therapy during long-term follow-up is scarce. Aim: The aim of our study was to determine the number of patients without appropriate ICD therapy 5 years after ICD implantation, to identify predicting factors, to assess the occurrence of late first ICD therapy and to quantify the financial impact of ICD therapy in a real-world setting. Design: Prospective observational study. Methods: We prospectively enrolled 322 consecutive ICD patients. Baseline data were collected at implantation and patients were followed for a median of 7.3 years (IQR 5.8-9.2 years). Time to first appropriate ICD therapy (either antitachycardia pacing or cardioversion) was documented. Results: Five years after implantation, 139 patients (43%) had not received appropriate ICD therapy. In multivariable analysis, a primary prevention indication and negative electrophysiological studies prior to ICD implantation were independent predictors of freedom from ICD therapy. Of the patients without ICD therapy, 5 years after implantation, 25% had experienced inappropriate ICD shocks. Two hundred and seven devices (1.5 devices per patient) were needed for the 139 patients without ICD intervention within 5 years, accounting for €31 784 per patient. During an additional follow-up of 3 years, 12% of the patients with unused ICD received a late first appropriate ICD therapy. Conclusions: About half of the ICD patients receive appropriate ICD therapy within 5 years after implantation. Furthermore, there is a significant proportion of patients receiving late first shocks after five initially uneventful year

Query Expansion for Survey Question Retrieval in the Social Sciences

In recent years, the importance of research data and the need to archive and to share it in the scientific community have increased enormously. This introduces a whole new set of challenges for digital libraries. In the social sciences typical research data sets consist of surveys and questionnaires. In this paper we focus on the use case of social science survey question reuse and on mechanisms to support users in the query formulation for data sets. We describe and evaluate thesaurus- and co-occurrence-based approaches for query expansion to improve retrieval quality in digital libraries and research data archives. The challenge here is to translate the information need and the underlying sociological phenomena into proper queries. As we can show retrieval quality can be improved by adding related terms to the queries. In a direct comparison automatically expanded queries using extracted co-occurring terms can provide better results than queries manually reformulated by a domain expert and better results than a keyword-based BM25 baseline.Comment: to appear in Proceedings of 19th International Conference on Theory and Practice of Digital Libraries 2015 (TPDL 2015

The CODE ambiguity-fixed clock and phase bias analysis products: generation, properties, and performance

The generation and use of GNSS analysis products that allowparticularly for the needs of single-receiver applicationsprecise point positioning with ambiguity resolution (PPP-AR) are becoming more and more popular. A general uncertainty concerns the question on how the necessary phase bias information should be provided to the PPP-AR user. Until now, each AR-enabling clock/bias representation method had its own practice to provide the necessary bias information. We have generalized the observable-specific signal bias (OSB) representation, as introduced in Villiger (J Geod 93:14871500, 2019) originally exclusively for pseudorange measurements, to carrier phase measurements. The existing common clock (CC) approach has been extended in a way that OSBs allowing for flexible signal and frequency handling between multiple GNSS become possible. Advantages of the proposed OSB-based PPP-AR approach are: GNSS biases can be provided in a consistent way for phase and code measurements and it is capable of multi-GNSS and suitable for standardization. This new, extended PPP-AR approach has been implemented by the Center for Orbit Determination in Europe (CODE). CODE clock products that adhere to the integer-cycle property have been submitted to the International GNSS Service (IGS) since mid of 2018 for three analysis lines: Rapid, Final, and MGEX (Multi-GNSS Extension). Ambiguity fixing is performed not only for GPS but also for Galileo. The integer-cycle property of between-satellite clock differences is of fundamental importance when comparing satellite clock estimates among various analysis lines, or at day boundaries. Both kinds of comparisons could be exploited at a very high level of consistency. Any retrieved comparison essentially indicated a standard deviation for between-satellite clocks from CODE of the order of 5 ps (1.5 mm in range). Finally, the integer-cycle property that may be recovered between the CODE Final clock and the accompanying bias product of consecutive daily sessions (using clock estimates additionally provided for the second midnight epoch) allows us to deduce GPS satellite clock and phase bias information that is consistent and continuous with respect to carrier phase observation data over two, three, or, in principle, yet more days. Phase-based clock densification from initially estimated integer-cycle-conform clock corrections at intervals of 300 s to 30 s (5 s in case of our Final clock product) is a matter of particular interest. Based on direct product comparisons and GRACE K-band ranging (KBR) data analysis, the quality of accordingly densified clock corrections could be confirmed to be on a level similar to that of of “anchor” (300s) clock corrections