154 research outputs found

    L' entraînement médical chez les animaux de parcs zoologiques : application chez l'éléphant d'Afrique (loxodonta africana)

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    L’entraînement médical est très couramment utilisé en parc zoologique car il permet au vétérinaire de pouvoir examiner un animal malade sans devoir l’anesthésier. Pour cela on apprend aux animaux différents exercices qui vont être utilisés à des fins médicales. Nous décrivons dans une première partie les deux modes principaux d’apprentissage animal : l’apprentissage associatif classique, où l’animal associe stimulus et réponse de nature involontaire et incontrôlable, et l’apprentissage associatif instrumental, encore appelé conditionnement opérant, où la réponse est augmentée ou diminuée par les événements qui la suivent et nous voyons leur utilisation dans le cadre de l’entraînement médical. Dans une seconde partie nous présentons l’éléphant d’Afrique puis nous voyons un exemple d’application de l’entraînement médical sur cette espèce et l’intérêt pour le vétérinaire de parc zoologique

    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

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    <p>Abstract</p> <p>Background</p> <p>Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. The uterovaginal aplasia is either isolated (type I) or more frequently associated with other malformations (type II or Müllerian Renal Cervico-thoracic Somite (MURCS) association), some of which belong to the malformation spectrum of DiGeorge phenotype (DGS). Its etiology remains poorly understood. Thus the phenotypic manifestations of MRKH and DGS overlap suggesting a possible genetic link. This would potentially have clinical consequences.</p> <p>Methods</p> <p>We searched DiGeorge critical chromosomal regions for chromosomal anomalies in a cohort of 57 subjects with uterovaginal aplasia (55 women and 2 aborted fetuses). For this candidate locus approach, we used a multiplex ligation-dependent probe amplification (MLPA) assay based on a kit designed for investigation of the chromosomal regions known to be involved in DGS.</p> <p>The deletions detected were validated by Duplex PCR/liquid chromatography (DP/LC) and/or array-CGH analysis.</p> <p>Results</p> <p>We found deletions in four probands within the four chromosomal loci 4q34-qter, 8p23.1, 10p14 and 22q11.2 implicated in almost all cases of DGS syndrome.</p> <p>Conclusion</p> <p>Uterovaginal aplasia appears to be an additional feature of the broad spectrum of the DGS phenotype. The DiGeorge critical chromosomal regions may be candidate loci for a subset of MRKH syndrome (MURCS association) individuals. However, the genes mapping at the sites of these deletions involved in uterovaginal anomalies remain to be determined. These findings have consequences for clinical investigations, the care of patients and their relatives, and genetic counseling.</p

    Caesarean section at term: the relationship between neonatal respiratory morbidity and microviscosity in amniotic fluid.

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    None of the authors report any conflicts of interest.International audienceOBJECTIVES: The incidence of neonatal respiratory morbidity following an elective caesarean section is 2-3 times higher than after a vaginal delivery. The microviscosity of surfactant phospholipids, as measured with fluorescence polarisation, is linked with the functional characteristics of fetal surfactant and thus fetal lung maturity, but so far this point has received little attention in new-borns at term. The aim of the study is to evaluate the correlation between neonatal respiratory morbidity and amniotic microviscosity (Fluorescence Polarisation Index) in women undergoing caesarean section after 37 weeks' gestation. STUDY DESIGN: The files of 136 women who had undergone amniotic microviscosity studies during elective caesarean deliveries at term were anonymised. Amniotic fluid immaturity (AFI) was defined as a Fluorescence Polarisation Index higher than 0.335. RESULTS: Respiratory morbidity was observed in 10 babies (7.3%) and was independently associated with AFI (OR: 6.11 [95% CI, 1.20-31.1] with p=0.029) and maternal body mass index (OR: 1.12 [95% CI, 1.02-1.22] with p=0.019). Gestational age at the time of caesarean delivery was inversely associated with AFI (odds ratio, 0.46 [95% confidence interval, 0.29-0.71], p<0.001), especially before 39 weeks, and female gender was associated with an increased risk (odds ratio, 3.29 [95% confidence interval, 1.48-7.31], p=0.004). CONCLUSIONS: AFI assessed by amniotic microviscosity was significantly associated with respiratory morbidity and independently correlated with shorter gestational age especially before 39 weeks. This finding provides a physiological rationale for recommending delaying elective caesarean section delivery until 39 weeks of gestation to decrease the risk for respiratory morbidity

    Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature.</p> <p>Case presentation</p> <p>A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal.</p> <p>Conclusion</p> <p>In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.</p

    Diagnosis, treatment and recurrence of a mandibular Langerhans cell histiocytosis: a three-year follow-up case report

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    Introduction: Langerhans cell histiocytosis (LCH) is an abnormal clonal proliferation of Langerhans cells secondary to immune process, mutation of oncogene or genetic predispositions. It preferentially affects bone, lung and skin. The incidence is 2–6 cases per million per year. Prognosis is variable and depends on number and location of lesions, and impact of the initial treatment. Oral lesions may be the first sign of LCH as illustrated by the present case. Observation: A 24-year-old male consulted first for severe gingival inflammation, teeth mobilities and alveolar bone loss with a suspicion of LCH. A pulmonary involvement was secondarily revealed by tomodensitometry. Histological examination, from gingival biopsy, confirmed the diagnostic of LCH, showing cells positive for the anti-CD1A antibody. The patient was managed by oral surgery and chemotherapy approaches. Alveolar bone loss significantly reduced. But 2 years and a half after the diagnosis, a recurrence was noted and managed by surgical approach. After a three-year follow-up, no recurrence was noted. Conclusion: Oral lesions can be inaugural manifestations of LCH. The dentist has an essential role in the early detection of these lesions

    A Study of Reconfigurable Accelerators for Cloud Computing

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    Due to the exponential increase in network traffic in the data centers, thousands of servers interconnected with high bandwidth switches are required. Field Programmable Gate Arrays (FPGAs) with Cloud ecosystem offer high performance in efficiency and energy, making them active resources, easy to program and reconfigure. This paper looks at FPGAs as reconfigurable accelerators for the cloud computing presents the main hardware accelerators that have been presented in various widely used cloud computing applications such as: MapReduce, Spark, Memcached, Databases

    Novel associations in disorders of sex development: findings from the I-DSD registry

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    Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.&lt;p&gt;&lt;/p&gt; Objective: To report the range of associated conditions identified in the international DSD (I-DSD) Registry.&lt;p&gt;&lt;/p&gt; Design, Setting, and Patients: Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician.&lt;p&gt;&lt;/p&gt; Results: Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations.&lt;p&gt;&lt;/p&gt; Conclusions: Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.&lt;p&gt;&lt;/p&gt

    Identification of lifestyle risk factors in adolescence influencing cardiovascular health in young adults: the BELINDA study

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    Cardiovascular diseases are the leading cause of mortality worldwide. These diseases originate in childhood, and a better understanding of their early determinants and risk factors would allow better prevention. The BELINDA (BEtter LIfe by Nutrition During Adulthood) study is a 10–14-year follow-up of the HEalthy Lifestyle in Europe by Nutrition in Adolescence study (the HELENA study, a European cross-sectional study in adolescents). The study aims to evaluate cardiovascular risk using the PDAY (Pathobiological Determinants of Atherosclerosis in Youth) risk score during young adulthood (21–32 years), and to examine the impact of risk factors identified during adolescence (12.5–17.5 years). Our secondary objective is to compare the characteristics of the BELINDA study population with the HELENA population not participating in the follow-up study. The HELENA study recruited 3528 adolescents during 2006–2007 and reassessed 232 of them 10–14 years later as young adults. We assessed clinical status, anthropometry, nutrition, physical activity (including sedentary behavior), physical fitness, and mental health parameters, and collected biological samples (blood, stool, and hair). Dietary intake, and physical activity and fitness data were also collected. A multivariable linear regression model will be used for the analysis of the primary outcome. A Chi-square and T-test were conducted for the comparison of the descriptive data (gender, age, weight, height, body mass index (BMI), and maternal school level) between participating and non-participating BELINDA adolescents. When comparing the 1327 eligible subjects with the 232 included in the BELINDA study, no significant differences regarding gender (p = 0.72), age (p = 0.60), height (p = 0.11), and weight (p = 0.083) at adolescence were found. However, the participating population had a lower BMI (20.4 ± 3.1 kg/m2 versus 21.2 ± 3.6 kg/m2; p < 0.001) and a higher maternal educational level (46.8% high school or university level versus 38.6%; p = 0.027) than the HELENA population who did not participate in the BELINDA study. The complete phenotyping obtained at adolescence through the HELENA study is a unique opportunity to identify adolescent risk factors for cardiovascular diseases. This paper will serve as a methodological basis for future analysis of this study

    Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report

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    <p>Abstract</p> <p>Background</p> <p>Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting different mesodermal organs such as the heart, lung, and urogenital system.</p> <p>Case report</p> <p>A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and Mayer-Rokitansky-Kuster-Hauser syndrome in adulthood is reported here. The i.v. pyelography showed right renal agenesis with a normal left kidney and ureter. Ultrasound and Magnetic Resonance Imaging also showed right renal agenesis with multicystic embryonary remnants in the right hemipelvis probably corresponding to a dysgenetic kidney. An uretrocystoscopy showed absence of ectopic ureter and of the right hemitrigone. She was scheduled for a diagnostic laparoscopy and creation of a neovagina according to the McIndoe technique with a prosthesis and skin graft. Laparoscopy confirmed the absence of the uterus. On both sides, an elongated, solid, rudimentary uterine horn could be observed. Both ovaries were also elongated, located high in both abdominal flanks and somewhat dysgenetics. A conventional cytogenetic study revealed a normal female karyotype 46, XX at a level of 550 GTG bands. A CGH analysis was performed using a 244K oligoarray CGH detecting 11 copy number variants described as normal variants in the databases. The 17q12 and 22q11.21 microdeletions described in other MRKH patients were not present in this case. Four years after operation her evolution is normal, without symptoms and the neovagina is adequately functional. The geneticists have studied her family history and the pedigree of the family is shown.</p> <p>Conclusions</p> <p>We suggest that primary damage to the mesoderm (paraaxil, intermediate, and lateral) caused by mutations in a yet unidentified gene is responsible for: 1) skeletal dysplasia, 2) inappropriate interactions between the bronchial mesoderm and endodermal lung bud as well as between the blastema metanephric and ureteric bud, and eventually 3) Müllerian anomalies (peritoneal mesothelium) at the same level. These anomalies would be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity.</p
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