PubMed | Service de neurologie, Laboratoire Of Biologie Medicale, Service medical de la fregate europeenne multi mission << Aquitaine >>, Service de reanimation and 6 more.
Type: Journal Article | Journal: Bulletin de la Societe de pathologie exotique (1990) | Year: 2016
The Healthcare Workers Treatment Center of Conakry, Guinea, was inaugurated in january 2015. It is dedicated to the diagnosis and the treatment of healthcare workers with probable or confirmed Ebola viral disease. It is staffed by the french army medical service. The french military team may reconcile their medical practice and the ethno-cultural imperatives to optimise the patient adherence during his hospitalization.
Besnard M.,Center Hospitalier Of Polynesie Francaise Chpf |
Eyrolle-Guignot D.,Service d'obstetrique |
Guillemette-Artur P.,Service de radiologie |
Lastere S.,Laboratoire Of Biologie Medicale |
And 9 more authors.
Eurosurveillance | Year: 2016
We detected an unusual increase in congenital cerebral malformations and dysfunction in fetuses and newborns in French Polynesia, following an epidemic of Zika virus (ZIKV), from October 2013 to March 2014. A retrospective review identified 19 cases, including eight with major brain lesions and severe microcephaly, six with severe cerebral lesions without microcephaly and five with brainstem dysfunction without visible malformations. Imaging revealed profound neurological lesions (septal and callosal disruption, ventriculomegaly, abnormal neuronal migration, cerebellar hypoplasia, occipital pseudocysts, brain calcifications). Amniotic fluid was drawn from seven cases at gestation weeks 20 to 29. ZIKV RNA was detected by RT-PCR and infectious ZIKV isolates were obtained in four of five microcephalic, but not in two non-microcephalic cases with severe brain lesions. Medical termination of pregnancy was performed in eleven cases; two cases with brainstem dysfunction died in the first months of life; six cases are alive, with severe neurological impairment. The results show that four of seven tested fetuses with major neurological injuries were infected with ZIKV in utero. For other non-microcephalic, congenital abnormalities we were not able to prove or exclude ZIKV infection retrospectively. The unusual occurrence of brain malformations or dysfunction without microcephaly following a ZIKV outbreak needs further studies. © 2016, European Centre for Disease Prevention and Control (ECDC). All Rights Reserved.
PubMed | Center Hospitalo University, Lyon University Hospital Center, Laboratoire Of Biologie Medicale, Service de medecine polyvalente and 4 more.
Type: Journal Article | Journal: American journal of medical genetics. Part A | Year: 2016
Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability. Rare familial cases of CD had been reported and exceptional cases of CD are associated with PKHD1 variants. In a family of three siblings presenting with a wide spectrum of severity of DPM, we performed whole exome sequencing and identified two PKHD1 compound heterozygous variants (c.10444G>A; p.Arg3482Cys and c.5521C>T; p.Glu1841Lys), segregating with the symptoms. Two compound heterozygous PKHD1 variants, including one hypomorphic variant, were identified in two other familial cases of DPM with at least one patient presenting with CD. This report widens the phenotypic variability of PKHD1 variants to VMC, and others hepatic bile ducts malformations with inconstant renal phenotype in adults and highlights the important intra-familial phenotypic variability. It also showed that PKHD1 might be a major gene for CD. This work adds an example of the contribution of exome sequencing, not only in the discovery of new genes but also in expanding the phenotypic spectrum of well-known disease-associated genes, using reverse phenotyping.
PubMed | Laboratoire Of Biologie Medicale, University College Dublin, L Rostomyan, A Thiry and 3 more.
Type: | Journal: Endocrine-related cancer | Year: 2017
Extract: Dear Editor, Pituitary gigantism is caused by chronic growth hormone (GH) hypersecretion by a pituitary lesion before epiphyseal fusion. Genetic causes have been identified in nearly 50% of patients with pituitary gigantism, with germline mutations in the AIP gene being the most frequent cause (Rostomyan et al. 2015). Recently, a new form of pituitary gigantism, X-linked acrogigantism (X-LAG), was described (Trivellin et al. 2014). X-LAG is due to chromosome Xq26.3 duplication and GPR101 is the disease-associated gene (Trivellin et al. 2014; Iacovazzo et al. 2016). X-LAG is characterized by of mixed GH/prolactin-secreting pituitary macroadenomas and/or hyperplasia in early childhood (Beckers et al. 2015). X-LAG typically occurs sporadically in females, but somatic mosaicism also occurs in males; familial mother-to-son transmission of the Xq26.3 duplication has been reported in three familial isolated pituitary adenoma families (Trivellin et al. 2014; Daly et al. 2016; Gordon et al. 2016; Iacovazzo et al. 2016). The clinical presentation of X-LAG syndrome differs from other genetic forms of pituitary gigantism (Rostomyan et al. 2015) and many well-known historical cases of gigantism share the clinical characteristics of X-LAG syndrome (Beckers et al. 2015; Rostomyan et al. 2015). If untreated during childhood X-LAG leads to established extreme gigantism (>1.9 meters) before puberty (Daly et al. 2016) ...
Survey of professional practices within the framework of the Continuous professional development: An experience led on a national scale on the theme of macroenzymes [Enquête de pratiques professionnelles dans le cadre du DPC: Une expérience menée à l'échelle nationale sur le thème des macroenzymes]
Leon A.,Laboratoire Of Biologie Medicale |
Aimone-Gastin I.,Nancy University Hospital Center
Annales de Biologie Clinique | Year: 2014
The recent HPST law (reform of the hospital and relative to the patients, to the health and to the territories) states that the formation of the healthcare professionals is now "independent" and "compulsory". This law introduces the term of "Continuous professional development". The "Continuous professional development" groups together the former systems of both Evaluation of the professional practices and in-services training. Indeed, our practice gave us an opportunity to evaluate the practices of the professional of the specialists in laboratory medecine. We had to deal with very unsual cases of interference with a medicine (tenofovir) during the dosage of creatines kinases induced by the presence of a macroenzyme. To achieve this goal, a situation scenario was constructed and sent to a sample of practitioners. The first part deals with a clinical case with an analytic interference provoked by a macroenzyme. The second part refers to the usual techniques employed to reveal the presence of macroenzymes. The results were returned as a document suggesting a way to behave "in front of a suspicion of macroenzymes". This study is an illustration of what can be realized to answer the obligations of continuous professional development. © 2014, John Libbey Eurotext. All rights reserved.
Vedy S.,Laboratoire Of Biologie Medicale
Annales de Biologie Clinique | Year: 2013
As far as laboratories accreditation according to ISO 15189 is concerned, validation of each method used has to be achieved. Manufacturer's recommendations are not always helpful in this context. That's why each laboratory must proceed systematically to a logical risk analysis. Few publications are available on this subject concerning microbiology. We propose to illustrate it with the example of a blood culture automate: the Bact'Alert 3D commercialised by Biomérieux®.
Mion G.,Hopital Cochin |
Larreche S.,Laboratoire Of Biologie Medicale
Medecine et Sante Tropicales | Year: 2014
During Echis viper envenoming, the administration of a single FAV-Afrique® antivenin vial generally corrects hemostasis disorders in less than twelve hours. The correction of hemostasis after 36 hours by 4 vials of FAV-Afrique® is thus not in favor of the usefulness of this antivenin for Cerastes envenoming. Mortality due to viper envenoming in Africa is high, but more than 90% of poisoned patients survive despite the absence of appropriate antivenom. The severity of poisoning depends on several factors: age and condition of the patient, location of the bite, composition and amount of injected venom, management delay, and therefore, survival is not necessarily synonymous of effectiveness of antivenom treatment. Cerastes venoms contain many enzymes that disrupt various stages of hemostasis. It remains to prove that FAV-Afrique®, a polyvalent antivenom adapted to venom of the main species responsible for envenoming in sub-Saharan Africa, (Bitis, Echis, Naja and Dendroaspis), is able to neutralize these specific proteins. The most logical approach of Cerastes envenoming is the administration of an antivenin adapted to species found in North Africa: Favirept® (Sanofi Pasteur) is a polyvalent antivenom adapted to the venoms of C. cerastes, Bitis arietans, Echis leucogaster, Macrovipera deserti, Naja haje and Naja nigricollis.
Vedy S.,Laboratoire Of Biologie Medicale
Annales de Biologie Clinique | Year: 2012
Internal quality control (IQC) position in antimicrobial susceptibility testing must be evaluated attentively before using. Our S. aureus ATCC 25923 use during year 2011 has given precious information that can be useful for other laboratories. First, IQC should never be used before checking that all the realisation process steps are controlled. It will then appear that reagents are the most susceptible to give false results. That's what happens in 2.74% of antimicrobial susceptibility test. IQC is then useful to limit their clinical's impact. However, IQC use also shows that quality improvement will be difficult without industrial producer's involvement.
Prenatal risk calculation: Comparison between Fast Screen pre i plus software and ViewPoint software. Evaluation of the risk calculation algorithms [Calcul du risque de trisomie 21 foetale : comparaison du logiciel Fast Screen pre I plus avec le logiciel ViewPoint. Évaluation des algorithmes de calcul]
Morin J.-F.,University of Monastir |
Botton E.,Laboratoire Of Biologie Medicale |
Jacquemard F.,Center Pluridisciplinaire Of Diagnostic Prenatal |
Richard-Gireme A.,Thermo Fisher Scientific
Annales de Biologie Clinique | Year: 2013
The Fetal medicine foundation (FMF) has developed a new algorithm called Prenatal Risk Calculation (PRC) to evaluate Down syndrome screening based on free hCG™, PAPP-A and nuchal translucency. The peculiarity of this algorithm is to use the degree of extremeness (DoE) instead of the multiple of the median (MoM). The biologists measuring maternal seric markers on KryptorTM machines (Thermo Fisher Scientific) use Fast Screen pre I plus software for the prenatal risk calculation. This software integrates the PRC algorithm. Our study evaluates the data of 2.092 patient files of which 19 show a foetal abnormality. These files have been first evaluated with the ViewPoint software based on MoM. The link between DoE and MoM has been analyzed and the different calculated risks compared. The study shows that Fast Screen pre I plus software gives the same risk results as ViewPoint software, but yields significantly fewer false positive results.
PubMed | Laboratoire Of Biologie Medicale
Type: Case Reports | Journal: Annales de biologie clinique | Year: 2016
Light chain multiple myeloma is a hematologic malignancy characterized by an excess of tumor plasma cells in the bone marrow and a monoclonal light chain in blood. It is generally diagnosed in patients aged 60-75 years old. Hypercalcemia, anemia, kidney failure, and bone pains are the main clinical and biological signs. Here is an atypical case report about a 30 year-old man who was diagnosed a light chain multiple myeloma. This patient had been suffering from back pain for 5 months. Osteolytic lesions were discovered on X-rays prescribed by the family practitioner. Admitted to the Emergency department, all blood tests showed results within the normal range. The serum protein electrophoresis was also normal. Only the urine analysis showed proteinuria. The urine immunofixation electrophoresis showed a massive light chain. The bone marrow aspiration cell count confirmed the myeloma diagnosis with an infiltration of dystrophic plasma cells. The patient was transferred to the hematology ward of Necker Hospital for treatment of light chain myeloma.