[Tuberous breast deformity correction: Long-term satisfaction assessment with BREAST-Q questionnaire]. / Correction des seins tubéreux : évaluation de la satisfaction à long terme à l'aide du BREAST-Q.

BACKGROUND: Tuberous Breast Deformity (TBD) is a complex breast malformation: shape, size and symmetry of breast can be affected. It causes physical and mental suffering with significant effect on life quality. The purpose of this study is to assess patients satisfaction and patients quality of life after TBD surgery over time. METHODS: All TBD patients operated between January 2007 and December 2018 were retrospectively identified for the study and those treated whith implant and/or mammoplasty were included. Different parameters have been recorded: age, malformation severity, breast symmetry, BMI, pregnancies, breast-feeding, type of primary surgery, complications and number of re-operations. Long-term satisfaction was assessed thanks to a BREAST-Q questionnaire (with a special « augmentation ¼ or « reduction/mastopexy ¼ module according to the primary surgery). RESULTS: Eighty-two patients were included: 35 patients had recieved bilateral breast implants, 14 patients had received unilateral breast implant with or without collateral mammoplasty, and 33 patients had undergone breast reduction surgery. The total average for the medical follow-up was 7.4 years. The number of intervention was significantly higher for patients who had undergone breast augmentation surgery (P=0.001) and for patients with severe TBD (P=0.01). Forty patients replied to the BREAST-Q questionnaire. Patients satisfaction scores were not significantly different between the different groups. Regarding life quality scores, patients undergoing a breast augmentation surgery with bilateral implants seemed to have a better "sexual well-being" score (P=0.03). "Physical well-being" score was lower for patients who had a breast reduction compared to the other groups (P=0.01). Patients with breast implants had significant better quality of life scores, especially for the following parameters: "psychosocial well-being" (P=0.02), "sexual well-being" (P<0.001), "physical well-being" (P<0.001) and "satisfaction with breast" (P=0.03). CONCLUSIONS: TBD surgery basically provides long-term satisfaction for most of the patients. The number of re-operations does not seem to deteriorate satisfaction over time.

Malignancy after Augmentation Enterocystoplasty: A Nationwide Study of Natural History, Prognosis and Oncogene Panel Analysis.

PURPOSE: We report the natural history and prognosis of tumors after augmentation enterocystoplasty, with a molecular analysis using an oncogene panel to search for potential targeted therapies. MATERIALS AND METHODS: This multicenter, nationwide, retrospective study included 16 patients. A panel of 21 clinically relevant oncogenes was tested on archival tumor specimens using next-generation sequencing. Survival rate was the main clinical outcome and sequences were compared to the reference genome for the genetic outcome. RESULTS: Augmentation enterocystoplasties were performed mainly for congenital neurogenic bladder and bladder exstrophy at a median patient age of 17 years (range 4 months to 45 years). Most of the malignancies were diagnosed because of clinical manifestations, with a median latency period of 20 years. Adenocarcinomas were mainly found after gastrocystoplasty, whereas urothelial cell carcinomas were typically found after colocystoplasty. Of the 16 patients 13 were diagnosed at an advanced stage of the disease (positive lymph nodes in 7, distant metastases in 6). The overall 1-year survival rate was 56%. Only 3 patients remained disease-free at a median followup of 70 months. Of the 9 tumors with analyzable DNA 4 were wild-type and 5 harbored missense mutations (KIT-p.Pro573Ser, PDGFRA-p.Glu587Lys, KRAS-p.Gly12Asp, ERBB4p.Arg484Lys, CTNNB1-p.Ser37Phe and p.Ser47Asn). CONCLUSIONS: Malignancy after augmentation enterocystoplasty is diagnosed late with frequent metastases and a very low 1-year survival rate. More than half the tested samples harbored missense mutations in oncogenes accessible to targeted therapies. An international collaboration to enlarge the genetic panel analysis of these tumors may offer new therapeutic hope to patients.

Probing Low-Energy Resonances in Water-Hydrogen Inelastic Collisions.

Molecular scattering at collisional energies of the order of 10-100 cm^{-1} (corresponding to kinetic temperatures in the 15-150 K range) provides insight into the details of the scattering process and, in particular, of the various resonances that appear in inelastic cross sections. In this Letter, we present a detailed experimental and theoretical study of the rotationally inelastic scattering of ground-state ortho-D_{2}O by ground-state para-H_{2} in the threshold region of the D_{2}O(0_{00}→2_{02}) transition at 35.9 cm^{-1}. The measurements were performed with a molecular crossed beam apparatus with variable collision angle, thence with variable collisional energy. Calculations were carried out with the coupled-channel method combined with a dedicated high-level D_{2}O-H_{2} intermolecular potential. Our theoretical cross section 0_{00}→2_{02} is found to display several resonance peaks in perfect agreement with the experimental work, in their absolute positions and relative intensities. We show that those peaks are mostly due to shape resonances, characterized here for the first time for a polyatomic molecule colliding with a diatom.

An accurate 5D potential energy surface for H3O+-H2 interaction.

Modeling of the observational spectra of H3O+ allows for a detailed understanding of the interstellar oxygen chemistry. While its spectroscopy was intensively studied earlier, our knowledge about the collision of H3O+ with the abundant colliders in the interstellar medium is rather limited. In order to treat these collisional excitation processes, it is first necessary to calculate the potential energy surface (PES) of the interacting species. We have computed the five-dimensional rigid-rotor PES of the H3O+-H2 system from the explicitly correlated coupled-cluster theory at the level of singles and doubles with perturbative corrections for triple excitations [CCSD(T)-F12] with the moderate-size augmented correlation-consistent valence triple zeta (aug-cc-pVTZ) basis set. The well depth of the PES is found to be rather large, about 1887.2 cm-1. The ab initio potential was fitted over an angular expansion in order to effectively use it in quantum scattering codes. As a first application, we computed dissociation energies for the different nuclear spin isomers of the H3O+-H2 complex.

Can novel early non-invasive biomarkers of embryo quality be identified with time-lapse imaging to predict live birth?

STUDY QUESTION: Can time-lapse imaging systems make it possible to identify novel early non-invasive biomarkers to predict live birth? SUMMARY ANSWER: From mostly high-grade embryos, out of 35 morphometric, morphologic and morphokinetic variables, only pronuclei (PN) position at time of PN juxtaposition and the absence of multinucleated blastomeres at the 2-cell stage (MNB2cell), were potentially associated with live birth. WHAT IS KNOWN ALREADY: Previous studies indicate that some kinetic markers may be predictive of blastocyst development and embryonic implantation. Certain teams have suggested including some of them in decisional algorithms for embryo transfers. STUDY DESIGN, SIZE, DURATION: Using a time-lapse incubator (EmbryoScope, Unisense FertiliTech), we retrospectively explored the associations between the morphometric, morphologic and morphokinetic parameters of oocytes, zygotes and embryos, and their associations with live birth. This study assessed 232 embryos from single embryo transfers after ICSI cycles performed between January 2014 and December 2017. PARTICIPANTS/MATERIALS, SETTING, METHODS: The morphometric, morphologic and morphokinetic parameters (18, 4 and 13, respectively) of oocytes, zygotes and early embryos were studied retrospectively. The associations between these parameters were examined using a Spearman's correlation, Mann-Whitney or chi-squared test as appropriate. We examined whether these parameters were associated with outcomes in univariate and multivariate logistic regression analyses. MAIN RESULTS AND THE ROLE OF CHANCE: Central PN juxtaposition was associated with a 2-fold increase in the odds of live birth (OR = 2.20; 95% CI, [1.26-3.89]; P = 0.006), while the presence of MNB2cell was associated with half the odds of live birth (OR = 0.51; 95% CI, [0.27-0.95]; P = 0.035). These two parameters were independent of embryo kinetics. The 33 remaining parameters had no significant association with the capacity of transferred embryos to develop to term. LIMITATIONS, REASONS FOR CAUTION: Even though the population size was relatively small, our analyses were based on homogeneous cycles, i.e. young women whose transferred embryos were found to be high-grade according to conventional morphology evaluation. In addition, our conclusions were established from a specific, highly selected population, so other study populations, such as women in an older age bracket, may yield different results. Finally, because we assessed day 2/3 transfers, our findings cannot be generalized to embryos cultured up to the blastocyst stage. WIDER IMPLICATIONS OF THE FINDINGS: It would be interesting to explore, prospectively, whether PN localisation is a relevant measure to predict embryo development when added into further algorithms and whether this parameter could be suitable for use in other IVF clinics. Further studies are needed, notably to explore the added value of timing evaluation in cohorts of embryos with low or intermediate morphology grade, as well as in other maternal populations (i.e. older women). STUDY FUNDING/COMPETING INTEREST(S): No external funding was used for this study. P. Sagot received funding from the following commercial companies: Merck Serono, Finox Biotech, Ferring, MSD France SAS, Teva Sante ́ SAS, Allergan France, Gedeon Richter France, Effik S.A., Karl Storz Endoscopie France, GE Medical Systems SCS, Laboratoires Genevrier, H.A.C. Pharma and Ipsen.All the authors confirm that none of this funding was used to support the research in this study. There are no patents, products in development or marketed products to declare. This does not alter the authors' adherence to all the journal policies on sharing data and materials.

Angle-Resolved Electron Scattering from H_{2}O near 0°.

An electron beam, characterized by a high-angular discrimination (≃0.7°), has been used to measure the total (elastic plus inelastic) cross section of H_{2}O in the energy range 3-100 eV. Broad coincidence is found with recent experiments, including a pronounced shoulder in the 6-12 eV region. However, at energies ≲6 eV, the present cross sections are ≃30% higher. Furthermore, forward scattering has been probed in the angular range 0°-3.5° and measures of the average (rotationally and vibrationally summed) differential elastic cross sections for incident energies ≤12 eV are obtained at a scattering angle ≃1^{∘}. The measurements, which provide the first test of theoretical predictions in an angular region experimentally unexplored until now, are found to be within 1 standard deviation of corresponding ab initio R-matrix calculations.

Interaction of H2O with CO: potential energy surface, bound states and scattering calculations.

Collisions between H2O and CO play a crucial role in the gaseous component of comets and protoplanetary disks. We present here a five-dimensional potential energy surface (PES) for the H2O-CO collisional complex. Ab initio calculations were carried out using the explicitly-correlated closed-shell single- and double-excitation coupled cluster approach with the non-iterative perturbative treatment of triple excitations [CCSD(T)-F12a] method with the augmented correlation-consistent aug-cc-pVTZ basis sets. The most stable configuration of the complex, where the carbon atom of CO is pointing towards the OH bond of water, has a binding energy De = 646.1 cm-1. The end-over-end rotational constant of the H2O-CO complex was extracted from bound state calculations and it was found to be B0 = 0.0916 cm-1, in excellent agreement with experimental measurements. Finally, cross sections for the rotational excitation of CO by H2O are computed for s-wave (J = 0) scattering at the full close-coupling level of theory. These results will serve as a benchmark for future studies.

Scattering of CO with H2O: Statistical and classical alternatives to close-coupling calculations.

Energy transfer in inelastic atom-molecule and molecule-molecule collisions can be described theoretically using the quantum-mechanical close-coupling method. Unfortunately, for bimolecular collisions implying heavy colliders and/or for which the potential energy surface has a deep well, the resulting coupled equations become numerically intractable and approximate methods have to be employed. H2O-CO collisions provide an important example for which close-coupling calculations are not feasible. In this paper, we investigate the accuracy of three approximate methods (the coupled states method, the quasi-classical trajectory method, and the statistical adiabatic channel model) to describe inelastic collisions of H2O with CO. We perform scattering calculations on a recent 5D potential energy surface, and we compare the results of the three approximate methods to fully converged close-coupling calculations at energies below 300 cm-1 and at low values of the total angular momentum. We show that the statistical method provides an attractive alternative to fully quantum mechanical close-coupling calculations at low collision energies, while the quasi-classical method is more advantageous at high energies.

Gender-specific association between dietary acid load and total lean body mass and its dependency on protein intake in seniors.

Diet-related mild metabolic acidosis may play a role in the development of sarcopenia. We investigated the relationship between dietary acid load and total lean body mass in male and female seniors age ≥ 60 years. We found that a more alkaline diet was associated with a higher %TLM only among senior women. INTRODUCTION: The aim of this study was to determine if dietary acid load is associated with total lean body mass in male and female seniors age ≥ 60 years. METHODS: We investigated 243 seniors (mean age 70.3 ± 6.3; 53% women) age ≥ 60 years who participated in the baseline assessment of a clinical trial on vitamin D treatment and rehabilitation after unilateral knee replacement due to severe knee osteoarthritis. The potential renal acid load (PRAL) was assessed based on individual nutrient intakes derived from a food frequency questionnaire. Body composition including percentage of total lean body mass (%TLM) was determined using dual-energy X-ray absorptiometry. Cross-sectional analyses were performed for men and women separately using multivariable regression models controlling for age, physical activity, smoking status, protein intake (g/kg BW per day), energy intake (kcal), and serum 25-hydroxyvitamin D concentration. We included a pre-defined subgroup analysis by protein intake (< 1 g/kg BW day, > 1 g/kg BW day) and by age group (< 70 years, ≥ 70 years). RESULTS: Adjusted %TLM decreased significantly across PRAL quartiles only among women (P trend = 0.004). Moreover, in subgroup analysis, the negative association between the PRAL and %TLM was most pronounced among women with low protein intake (< 1 g/kg BW per day) and age below 70 years (P = 0.002). Among men, there was no association between the PRAL and %TLM. CONCLUSION: The association between dietary acid load and %TLM seems to be gender-specific, with a negative impact on total lean mass only among senior women. Therefore, an alkaline diet may be beneficial for preserving total lean mass in senior women, especially in those with low protein intake.

Use of a hand-held digital cognitive aid in simulated crises: the MAX randomized controlled trial.

BACKGROUND: Cognitive aids improve the technical performance of individuals and teams dealing with high-stakes crises. Hand-held electronic cognitive aids have rarely been investigated. A randomized controlled trial was conducted to investigate the effects of a smartphone application, named MAX (for Medical Assistance eXpert), on the technical and non-technical performance of anaesthesia residents dealing with simulated crises. METHODS: This single-centre randomized, controlled, unblinded trial was conducted in the simulation centre at Lyon, France. Participants were anaesthesia residents with >1 yr of clinical experience. Each participant had to deal with two different simulated crises with and without the help of a digital cognitive aid. The primary outcome was technical performance, evaluated as adherence to guidelines. Two independent observers remotely assessed performance on video recordings. RESULTS: Fifty-two residents were included between July 2015 and February 2016. Six participants were excluded for technical issues; 46 participants were confronted with a total of 92 high-fidelity simulation scenarios (46 with MAX and 46 without). Mean (sd) age was 27 (1.8) yr and clinical experience 3.2 (1.0) yr. Inter-rater agreement was 0.89 (95% confidence interval 0.85-0.92). Mean technical scores were higher when residents used MAX [82 (11.9) vs 59 (10.8)%; P<0.001]. CONCLUSION: The use of a hand-held cognitive aid was associated with better technical performance of residents dealing with simulated crises. These findings could help digital cognitive aids to find their way into daily medical practice and improve the quality of health care when dealing with high-stakes crises. CLINICAL TRIAL REGISTRATION: NCT02678819.

[Study of algorithms to identify schizophrenia in the SNIIRAM database conducted by the REDSIAM network]. / Étude des algorithmes de repérage de la schizophrénie dans le Sniiram par le réseau REDSIAM.

BACKGROUND: The aim of the REDSIAM network is to foster communication between users of French medico-administrative databases and to validate and promote analysis methods suitable for the data. Within this network, the working group "Mental and behavioral disorders" took an interest in algorithms to identify adult schizophrenia in the SNIIRAM database and inventoried identification criteria for patients with schizophrenia in these databases. METHODS: The methodology was based on interviews with nine experts in schizophrenia concerning the procedures they use to identify patients with schizophrenia disorders in databases. The interviews were based on a questionnaire and conducted by telephone. RESULTS: The synthesis of the interviews showed that the SNIIRAM contains various tables which allow coders to identify patients suffering from schizophrenia: chronic disease status, drugs and hospitalizations. Taken separately, these criteria were not sufficient to recognize patients with schizophrenia, an algorithm should be based on all of them. Apparently, only one-third of people living with schizophrenia benefit from the longstanding disease status. Not all patients are hospitalized, and coding for diagnoses at the hospitalization, notably for short stays in medicine, surgery or obstetrics departments, is not exhaustive. As for treatment with antipsychotics, it is not specific enough as such treatments are also prescribed to patients with bipolar disorders, or even other disorders. It seems appropriate to combine these complementary criteria, while keeping in mind out-patient care (every year 80,000 patients are seen exclusively in an outpatient setting), even if these data are difficult to link with other information. Finally, the experts made three propositions for selection algorithms of patients with schizophrenia. CONCLUSION: Patients with schizophrenia can be relatively accurately identified using SNIIRAM data. Different combinations of the selected criteria must be used depending on the objectives and they must be related to an appropriate length of time.

Comparative experimental and theoretical study of the rotational excitation of CO by collision with ortho- and para-D2 molecules.

A joint crossed beam and quantum mechanical investigation of the rotationally inelastic collisions of CO with ortho- and para-D2 molecules is reported. A new 4D potential energy surface (PES) averaged over the ground vibrational states of D2 and CO is used to calculate the rovibrational bound states of the ortho-D2-CO complexes. Close coupling calculations are then performed in the rigid rotor approximation for ortho- and para-D2 colliding with CO for the experimentally investigated transition of CO (j = 0 → 1) and for collision energies ranging from 0.1 to 25 cm-1. The agreement between theory and experiment is found to be very good for both the bound state energies of the ortho-D2-CO complexes and for the inelastic scattering cross-sections showing that the free rotation of two rigid rotors is a very good model of the D2-CO system in this low collision energy domain.

Rotational study of the CH4-CO complex: Millimeter-wave measurements and ab initio calculations.

The rotational spectrum of the van der Waals complex CH4-CO has been measured with the intracavity OROTRON jet spectrometer in the frequency range of 110-145 GHz. Newly observed and assigned transitions belong to the K = 2-1 subband correlating with the rotationless jCH4 = 0 ground state and the K = 2-1 and K = 0-1 subbands correlating with the jCH4 = 2 excited state of free methane. The (approximate) quantum number K is the projection of the total angular momentum J on the intermolecular axis. The new data were analyzed together with the known millimeter-wave and microwave transitions in order to determine the molecular parameters of the CH4-CO complex. Accompanying ab initio calculations of the intermolecular potential energy surface (PES) of CH4-CO have been carried out at the explicitly correlated coupled cluster level of theory with single, double, and perturbative triple excitations [CCSD(T)-F12a] and an augmented correlation-consistent triple zeta (aVTZ) basis set. The global minimum of the five-dimensional PES corresponds to an approximately T-shaped structure with the CH4 face closest to the CO subunit and binding energy De = 177.82 cm(-1). The bound rovibrational levels of the CH4-CO complex were calculated for total angular momentum J = 0-6 on this intermolecular potential surface and compared with the experimental results. The calculated dissociation energies D0 are 91.32, 94.46, and 104.21 cm(-1) for A (jCH4 = 0), F (jCH4 = 1), and E (jCH4 = 2) nuclear spin modifications of CH4-CO, respectively.

Rotational study of the NH3-CO complex: millimeter-wave measurements and ab initio calculations.

The rotational spectrum of the van der Waals complex NH3-CO has been measured with the intracavity OROTRON jet spectrometer in the frequency range of 112-139 GHz. Newly observed and assigned transitions belong to the K = 0-0, K = 1-1, K = 1-0, and K = 2-1 subbands correlating with the rotationless (jk)NH3 = 00 ground state of free ortho-NH3 and the K = 0-1 and K = 2-1 subbands correlating with the (jk)NH3 = 11 ground state of free para-NH3. The (approximate) quantum number K is the projection of the total angular momentum J on the intermolecular axis. Some of these transitions are continuations to higher J values of transition series observed previously [C. Xia et al., Mol. Phys. 99, 643 (2001)], the other transitions constitute newly detected subbands. The new data were analyzed together with the known millimeter-wave and microwave transitions in order to determine the molecular parameters of the ortho-NH3-CO and para-NH3-CO complexes. Accompanying ab initio calculations of the intermolecular potential energy surface (PES) of NH3-CO has been carried out at the explicitly correlated coupled cluster level of theory with single, double, and perturbative triple excitations and an augmented correlation-consistent triple zeta basis set. The global minimum of the five-dimensional PES corresponds to an approximately T-shaped structure with the N atom closest to the CO subunit and binding energy De = 359.21 cm(-1). The bound rovibrational levels of the NH3-CO complex were calculated for total angular momentum J = 0-6 on this intermolecular potential surface and compared with the experimental results. The calculated dissociation energies D0 are 210.43 and 218.66 cm(-1) for ortho-NH3-CO and para-NH3-CO, respectively.

Evolution of sperm quality in men living in the vicinity of a municipal solid waste incinerator possibly correlated with decreasing dioxins emission levels.

The objective was to examine the impact on sperm parameters of environmental exposure to dioxins around a municipal waste incinerator initially with high emission levels and during reduction levels. An ecological study with quasi-experimental conditions was performed in patients of a reproductive laboratory. The first semen analyses of 251 men living in Besançon, France, between 2001 and 2007, were included. To analyse the contribution of direct exposure (inhalation), the calendar time was dichotomised in two periods 2001-2003 versus 2004-2007 and used as a proxy for exposure. Regarding the indirect exposure pathway (food), the statistical analysis was made with a nonparametric test to assess the trends. There was a negative correlation between the year of exposure and the percentage of abnormal mid-piece and the multiple abnormalities index, even after adjusting for age and days abstention from inter-course. A positive correlation was found between the progressive motile sperm count and the period of exposure. These findings are to be put into the context of a drastic reduction in emissions of dioxins. Our results suggest an effect of chronic exposure to dioxins on spermiogenesis with more abnormalities. These results should be confirmed with concentration measurements of dioxins in infertile men.

Safety and feasability of ureteroscopy for pediatric stone, in children under 5 Years (SFUPA 5): A French multicentric study.

INTRODUCTION: Ureteroscopy (URS) can be proposed as first-line therapy for the management of pelvic stones from 10 to 20 mm and for lower ureteric stones in children. However, little is known about the success and the morbidity of URS in young children. Ureteroscopic treatment may present matters in young children because of the small size of the pediatric kidney and the small size of the collecting system. OBJECTIVE: To assess safety and efficacy of URS for the treatment of urinary stones in children aged of 5 years or less. STUDY DESIGN: After the institutional ethical board approval was obtained, we conducted a retrospective, analytic, multicentric study that included all URS performed between January 2016 and April 2022 in children aged of 5 years or less. In this non-comparative case series, anonymized pooled data were collected from 7 tertiary care centers of pediatric patients. Endpoints were the one-session SFR at 3 months and per and postoperatives complications. Descriptive statistics were applied to describe the cohort. RESULTS: Eighty-three patients were included. For them, 96 procedures were performed at the median age of 3.5 years (IQR: 0.8-5) and median weight of 14 Kg (6.3-23). Median stone size was 13 mm (4-45). There were 65 (67 %) renal stones treated with flexible URS, most of which were in the renal pelvis (30 %) and in the lower calix (33 %). A ureteral access sheath was used in 91 % procedures. Preoperative ureteral stent was placed in 52 (54 %) of patients. None of patients had ureteral dilatation. The single-session SFR was 67.4 % (56.3 and 89.2 % for flexible URS and semi-rigid URS respectively) and children require 1.4 procedures to achieve complete stone clearance. The overall complication rate was 18.7 %, most of them were minor (Clavien I-II). Intraoperative perirenal extravasation (Clavien IIIb) due to forniceal rupture was documented in 6.2 % of cases, related to an increased intrapelvic pressure (IPP) performed in a closed pelvicalyceal system. DISCUSSION: Pediatric urologists should be aware of forniceal rupture based on the presence of extravasation of contrast during endourological procedures especially when they have difficulties to reach lower caliceal stone in small patient. CONCLUSION: URS in patients aged of 5 years or less, is a complex minimally invasive procedure with reasonable efficacy and low morbidity. Intrarenal stones treated by RIRS in young children carries the risk of additional procedures to complete stone clearance.

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a large French pedigree to a 26-cM interval in chromosome 11q21-23. This region contains the alphaB-crystallin gene (CRYAB), a candidate gene encoding a 20-kD protein that is abundant in lens and is also present in a number of non-ocular tissues, including cardiac and skeletal muscle. AlphaB-crystallin is a member of the small heat shock protein (shsp) family and possesses molecular chaperone activity. We identified an R120G missense mutation in CRYAB that co-segregates with the disease phenotype in this family. Muscle cell lines transfected with the mutant CRYAB cDNA showed intracellular aggregates that contain both desmin and alphaB-crystallin as observed in muscle fibers from DRM patients. These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder.

[Issues inherent to the management of disorders of sex development in Point G Hospital]. / Problématique de la prise en charge des anomalies de la différenciation sexuelle dans le service d'urologie : CHU Point G.

Abnormal sexual development causes unconformity between gender identity and gender role. In countries with low socio-economic level, the optimal management is difficult. The aim of this study was to evaluate the frequency, the genital anatomy appearance, the diagnostic and the surgical management of disorders of sex development (DSD) discovered during the adolescence. Between January 2005 and November 2006 (23 months), five patients with abnormal sexual development were identified in Point G Hospital. First-line testing included biology measurement and imaging. A surgical management was systematically offered. Median age was 19.5±11.8 years (6-31). All patients were initially assigned male. Sexual dimorphic with genital ambiguity was the first reason of consultation (three children to five). One patient had male breast development and one had pelvic pain. All clinical evaluation suggested genital ambiguity. The diagnostic was female pseudohermaphrodism in three cases, true hermaphrodism in one case and hypogonadism for one patient. A masculinizing genital surgery was performed in three cases. The other patients refused the treatment or were out of sight. Intersex disorders are relatively rare in Mali with a prevalence of 2.30‰ in our hospital. This study highlighted the lack of financial means and local resources for optimal clinical management of individuals with DSD.

Kidney graft outcome and quality (after transplantation) from uncontrolled deceased donors after cardiac arrest.

The use of uncontrolled deceased donors after cardiac arrest (uDDCA) has been developed in France to compensate for organ shortage. The quality of these kidneys remains unclear. We analyzed kidney graft function and histology from 27 uDDCA and compared them with kidneys from 30 extended criteria donors (ECD) and from 24 simultaneous pancreas kidney (SPK) donors as a control group of optimal deceased donors. Kidneys from ECD and SPK donors were preserved by static cold storage while kidneys from uDDCA were preserved by pulsatile perfusion. The uDDCA graft function at 3 years posttransplantation (estimated with MDRD and measured with inulin clearance) did not differ from that of the ECD group (eGFR 44.1 vs. 37.4 mL/min/1.73 m(2) , p = 0.13; mGFR 44.6 vs. 36.1 mL/min/1.73 m(2) , p = 0.07 in the uDDCA and ECD groups, respectively). The histological assessment of 3-month and 1-year protocol biopsies did not show differences for interstitial lesions between the uDDCA and ECD grafts (IF score at M3 was 30 vs. 28% and at M12 36 vs. 33%, p = NS). In conclusion, the results at 3 years with carefully selected and machine-perfused uDDCA kidneys have been comparable to ECD kidneys and encourage continuation of this program and development of similar programs.

Residents and ICU nurses get reliable static and dynamic haemodynamic assessments with aortic oesophageal Doppler.

BACKGROUND: Aortic oesophageal Doppler (ODM) allows continuous non-invasive haemodynamic monitoring. We tested to confirm if residents and nurses were able to reposition oesophageal probe (OP), obtain aortic blood flow of good quality and so perform reliable static and dynamic haemodynamic assessments. METHODS: Prospective observational study assessing ODM measurements were obtained by six residents and three nurses after they have participated in training. Measured (aortic diameter) and calculated haemodynamic data [indexed stroke volume (SVI), cardiac index] were directly obtained from ODM, after residents and nurses repositioned the OP. In a second group of patients, we tested the ability of residents and nurses to detect rapid haemodynamic changes after a passive leg raising. SVI comparison was the primary end point. Statistical analysis was performed using the method of Bland and Altman. RESULTS: Sixty-six haemodynamic measurements were performed on 42 patients. Mean bias for SVI between the skilled physician and residents, and between the skilled physician and nurses were -0.9 ± 5.2 ml/m(2) (P = 0.15), with a percentage error of 31%, and 0.9 ± 5.1 ml/m(2) (P = 0.14), with a percentage error of 33%, respectively. There was an excellent correlation for SVI between the physician and residents (r = 0.9; P < 0.0001) and between the physician and nurses (r = 0.9; P < 0.0001). Induced changes in SVI measured by residents and nurses strongly followed those of our skilled physician. CONCLUSION: Residents and nurses get reliable static and dynamic haemodynamic assessments with ODM compared to our skilled physician.