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J Flament

Publications and source records attributed to J Flament.

At least 19 recordsLinked to original sources
PubMed2005

[Update on Bardet-Biedl syndrome].

Until recently, Bardet-Biedl syndrome was considered as a classic autosomal recessive condition. The disorder is defined by the association of the following clinical features: retinitis pigmentosa, polydactyly, obesity, hypogonadism, and possible mental retardation. This syndrome leads to multiple handicaps (visual impairment, complications of obesity, kidney failure, endocrine dysfunction). This condition, apparently clearly defined from a clinical point of view, appears to be genetically heterogenous. To date, six different genes have been identified: BBS1, BBS2, BBS4, BBS6, BBS7 and BBS8. Interestingly, this condition has recently been linked to a failure of cellular ciliogenesis. Moreover, this disorder is characterized by an additional degree of complexity, as it is the first example of triallelic inheritance described in human beings. However, this new finding appears to be less frequent than expected in this syndrome.

Bardet-Biedl Syndrome↗
PubMed2004

Implementation of the INTERCEPT Blood System for Platelets into routine blood bank manufacturing procedures: evaluation of apheresis platelets.

BACKGROUND AND OBJECTIVES: The INTERCEPT Blood System for Platelets utilizes amotosalen-HCl (S-59) in combination with ultraviolet A (UVA) light to inactivate viruses, bacteria, protozoa and leucocytes that may contaminate platelet concentrates (PCs). To facilitate implementation of this technique into routine blood bank manufacturing procedures, this study evaluated the impact of different time settings of photochemical treatment on in vitro platelet function. MATERIALS AND METHODS: Platelets derived from apheresis (6.5-7.0 x 10(11) platelets) were resuspended in 240 ml of autologous plasma and 360 ml of platelet additive solution (PAS III) and split into two equal-sized PC units. Whereas one unit was not treated, the other was treated with 150 microm amotosalen and 3 J/cm2 UVA light followed by a compound adsorption device (CAD) step for reduction of residual amotosalen and photoproducts. In a first series of experiments (arm A, n = 7), PC units were photochemically treated after an overnight storage period of 16-23 h followed by a CAD step of 4 h. In a second series (arm B, n = 8), photochemical treatment occurred after a short storage time of 4 h with a subsequent CAD step of 16 h. Platelet function was evaluated by assaying blood gas analysis, glucose and lactate concentration, lactate dehydrogenase (LDH), hypotonic shock response (HSR) and the expression of CD62p, over a period of 7 days. RESULTS: Neither of the photochemical treatment procedures showed differences for pH, pCO2, pO2, HCO3, glucose consumption or platelet activation until the end of day 7. Increased lactate values detected for the treated units of arm A at the end of the storage period were independent from the PCT time setting. CONCLUSIONS: Photochemical pathogen inactivation with different initial resting periods between 4 and 23 h, and different CAD steps of 4 and 16 h, had no influence on the platelet in vitro function during 7 days of storage.

Adsorption↗
PubMed2004

Therapeutic efficacy of pooled buffy-coat platelet components prepared and stored with a platelet additive solution.

Despite the introduction of platelet additive solutions for the preparation of pooled platelet components, only a few studies of limited scope have evaluated the clinical efficacy of platelets stored in these solutions. The current report presents an analysis of data to evaluate the response to the transfusion of pooled buffy-coat components suspended in storage solution with reduced (35%) plasma content in comparison with 100% plasma products. During the euroSPRITE clinical trial of platelet components treated with a pathogen inactivation process, control treatment group platelet components were prepared in 100% allogeneic donor plasma (plasma control) or in platelet additive solution (T-Sol) mixed with plasma (T-Sol control). Control group thrombocytopenic patients received either plasma control or T-Sol control platelet components. One-hour and 24-h platelet count increments (CIs) and corrected count increments (CCIs) were analysed for these two types of preparation. In addition, haemostatic assessments were conducted for each transfusion. One-hour and 24-h mean platelet CIs and post-transfusion haemostatic scores were not significantly different for patients receiving platelet components suspended in 100% plasma and T-Sol plasma mixtures. Pooled buffy-coat platelet components prepared in reduced plasma content mixtures provided therapeutic platelet CIs with effective haemostasis.

Blood Component Transfusion↗
PubMed2003

Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.

The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented. This study detected two novel FOXL2 mutations (missence and nonsens mutations) and confirmed the recurrence of a previously described duplication. Magnetic Resonance Imaging (MRI) of the orbit, in one family, showed absence or hypotrophy of the eyelid superior levator muscle suggesting a possible role of FOXL2 in the development of this extra-ocular muscle.

Adult↗
PubMed2002

[Multifocal electroretinogram for assessing sun damage following the solar eclipse of 11 August 1999].

Following the eclipse of 11 August 1999, the ophthalmological clinic of Strasbourg cared for 4 patients who suffered from sun damage. The multifocal electroretinogram (ERG) carried out on our first patient enabled us to not only confirm the existence of a residual maculopathy as shown by the static visual field, but also, and above all to quantify the foveolar deficit. Moreover, with the other 3 patients, the multifocal ERG enabled us to detect a foveolar deficit completely overlooked by the other usual tests. In light of our clinical study, we can assert that the multifocal ERG has yet to be equaled by any other test for analysis of macular function.

Adolescent↗
PubMed2002

[Ocular toxicity of deferoxamine: description and analysis of three observations].

INTRODUCTION: Deferoxamine is a specific chelating agent of trivalent anions: iron ion and aluminum ion. The main prescriptions for this treatment are primary non-curable by blood letting hemochromatosis, secondary hemosiderosis, and aluminum intoxication associated with chronic kidney failure. Since the early 1980s, ocular toxicity has been documented in several publications. OBSERVATIONS: We recorded three clinical observations of patients presenting symptoms of an ocular toxicity caused by deferoxamine. The prescription of this treatment related to the presence of secondary hemosiderosis (a case of primitive myelofibrosis and a case of chronic myelomonocytic leukemia treated by blood transfusion) and an aluminum intoxication affecting a patient with chronic kidney failure. All three patients presented a gradual loss of visual acuity. The following were predominantly observed at the fundus examination which showed pigmentary anomalies near the macula such as mottling and dispersion affecting the electrophysiological studies. The termination of the treatment did not result in an improvement in the symptomatology. DISCUSSION: Considering the latest literature on the subject, the indications as well as the pharmaceutical properties of deferoxamine, the ophthalmological symptoms of this intoxication, the additional investigations and the anatomicopathological analyses are restated, together with the current pathogenical hypothesis. CONCLUSION: Deferoxamine can cause ocular toxicity resulting in severe and permanent lesions of the retinal pigment epithelium. The occurrence of disorders of the fundus and visual acuity requires, before and during the treatment, regular ophthalmological monitoring combined with electrophysiological explorations. This allows early treatment of the hematological or kidney disorder.

Aged↗
PubMed2001

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

PURPOSE: To report a late-onset cone-rod dystrophy that revealed a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation. METHODS: Observational case series. A 42-year-old female disclosed a late-onset retinal dystrophy. The family history revealed that her three sons, one of them deceased at the age of 4, had mental and neurologic impairment of variable severity. The retinal dystrophy of the mother was classified as a cone-rod dystrophy. Retinal dystrophy was subsequently diagnosed in the two surviving sons. Screening for mutation in the mitochondrial DNA (mtDNA) was performed because of the combination of neurologic involvement and retinal dystrophy in this family. RESULTS: Molecular analysis of the mtDNA revealed the ATPase-6 gene T8993G mutation in the mother and the two sons. CONCLUSION: This family illustrates the remarkably variable expression of retinal and systemic manifestations related to the T8993G mutation ranging from an isolated late-onset cone-rod dystrophy to a severe neurodegenerative process with a dramatic outcome. Genetic counseling for retinal dystrophies requires careful evaluation of the familial medical history.

Adenosine Triphosphatases↗
PubMed2000

Soluble HLA-DR antigen levels in serum correlate with rheumatoid arthritis disease activity and the presence of disease-associated epitopes.

We investigated correlations between soluble HLA-DR (sHLA-DR) molecules and several clinical, biological and genetic parameters associated with rheumatoid arthritis (RA) disease activity. Serum sHLA-DR concentrations were determined in 146 samples from 89 RA patients by an ELISA format, using an antibody combination of mouse and rat monoclonal anti-human HLA-DR antibodies. The mean sHLA-DR serum level in RA patients was significantly increased with 277+/-19 ng/ml compared to 142+/-13 ng/ml of 80 healthy controls (P<0.001). In ascending order of significance, correlations were found between serum sHLA-DR and EULAR swelling and pain scores, Waaler-Rose, RA factor, ESR and CRP (P=0.025 to P<0.001). High sHLA-DR levels were defined above 374 ng/ml that was the 95% confidence interval of the controls. Thirty-seven blood samples (25%) in 31 RA patients were above this level. The EULAR pain and swelling scores, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and RA factor were higher (P=0.044 to P<0.001) at the moment of high sHLA-DR concentrations, compared to the lower concentrations. Higher disease activity was further found in groups of RA patients respectively heterozygous or homozygous for the disease-associated epitope (Q)R/KRAA within the HLA-DRB1 chain, compared to the group without this epitope (P<0.017 for part of the results). Likewise, sHLA-DR was respectively 169+/-17 (no disease associated epitope), 324+/-34 (heterozygous) and 442+/-69 ng/ml (homozygous for the disease-associated epitope on HLA-DRB1 alleles) (P<0.017). In conclusion, this study shows significant correlations between serum sHLA-DR levels and RA disease activity parameters, as well as increased sHLA-DR in patients with disease-associated epitope on HLA-DRB1 alleles.

Adult↗
PubMed1999

[A new mode of recording retinal activity: multifocal ERG].

Global ERG recordings are only modified in conditions with diffuse or extensive retinal involvement. The use, over the last 6 months, of a new functional testing device: VERIS (visual evoked response imaging system) allows accurate detection and quantification of localized retinal function defects. Our preliminary experience shows that a careful preparation of subjects, standardized testing protocols and a good understanding of the device technology, especially software parameters are mandatory. We report our results on a series of 28 normal volunteers, grouped by age and describe the various graphic presentation of data collected. This technology should allow accurate detection and quantification of retinal functional defects in patients with age related macular degeneration as well as evaluation of visual function in retinitis pigmentosa patients before and after photoreceptor transplantation.

Adult↗
PubMed1999

[Central retinal vein occlusion and opto-ciliary shunts. An angiographic diagnosis].

Opto-ciliary shunts are compensatory bypass channels from the retinal venous system to the choroidal veins in case of long standing central retinal vein occlusion. Indocyanine green angiography with the Scanning Laser Ophtalmoscope may be helpful to differentiate acquired optociliary shunts from retinal or choroidal arteriovenous malformations.

Choroid↗
PubMed1999

[Congenital hypertrophy of retinal pigment epithelium: a marker in familial adenomatous polyposis].

PURPOSE: Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder with marked propensity for malignant transformation. The potential for congenital hypertrophy of retinal pigment epithelium (CHRPE) as a phenotypic marker for this disease is recognized. MATERIAL AND METHODS: We report our investigations in 11 families with familial adenomatous polyposis. CHRPE characteristics were described and the relations between genotype and phenotype and those between CHRPE and severity of FAP are discussed. DISCUSSION: All members of the family should undergo retinal examination at the earliest age possible. The results give an indication of the severity of the intestinal disease and allow an approximate localization of the mutation in the coding sequence, leading to a more rapid genetic analysis.

Adenomatous Polyposis Coli↗
PubMed1997

A system for the supply of platelets suspended in a storage medium including buffy-coat-derived platelet concentrates in combination with "split" apheresis platelets.

Our objective was to create a system for the supply of platelet concentrates (PCs) based on leukocyte-filtered PCs suspended in a storage medium (PAS-II) including: (1) pooled buffy-coat-derived (BC) PCs and (2) "split" apheresis PCs. The same standards were intended for the two preparations with regard to composition and blood cell counts. In preliminary studies, similar in vitro data were found for leukocyte-filtered and non-filtered reference BC PCs. Slightly inferior in vitro results than for BC PCs restricted the shelf-life of apheresis PCs to 5 days compared to 7 days for BC PCs. With the present platelet supply system in use as a routine service for one year, the experience was very satisfactory, meeting the demands for PCs very efficiently and resulting in a low out-dating rate (5%).

Blood Platelets↗
PubMed1997

Prestorage leukocyte reduction with in-line filtration of whole blood: evaluation of red cells and plasma storage.

OBJECTIVES: Prestorage filtration of blood components appears to be an effective method to reduce leukocyte-induced adverse reactions and other complications. To determine whether it is better to filter whole blood before component separation, we compared the efficiency of in-line filtration of whole blood with that of postseparation filtration. METHODS: Blood was collected from normal, healthy donors into either regular triple-bag containers or into whole-blood integral-filter container systems. We then compared the in vitro storage values of leukocyte-depleted red blood cell concentrates (RBCC) kept at 4 degrees C, and plasma frozen for 1 year with nonfiltered blood components as control. RESULTS: All counts of white blood cells after filtration were < 1 x 10(6) per unit. For almost all storage parameters no significant differences were found between leukocyte-reduced RBCC and control units. The plasma fibrinopeptide A values below 30 ng/ml prior to freezing indicate that filtration does not activate the coagulation factors. Furthermore, the filtration did not influence either the biological values or the coagulation factors of plasma units. CONCLUSIONS: Whole blood filtration prior to component preparation seems to offer a useful alternative technique for obtaining leukocyte-reduced RBCC and plasma.

Blood Preservation↗
PubMed1997

Different expression of adhesion molecules on myeloid and B-lymphoid CD34+ progenitors in normal bone marrow.

The expression of adhesion molecules was studied on B lymphoid and myeloid CD34+ precursors in normal bone marrow. Bone marrow aspirates were labelled in a double fluorescence procedure with the CD34 monoclonal antibody 43A1 and with antibodies directed against maturation and differentiation antigens and adhesion molecules. Three clusters of CD34+ cells could be distinguished by their light scatter characteristics in flow cytometry. The population with the lowest forward scatter contained B-lymphoid precursors while the two others showed phenotypic characteristics of, respectively, early and late myeloid precursors. Nearly all CD34+ cells in the 3 subpopulations expressed VLA-4, VLA-5, LFA-3 and H-CAM. B-lymphoid progenitors showed a higher density of VLA-4 and VLA-5 than the myeloid progenitors. Myeloid precursors, and particularly the late subset, expressed more HCAM than the B-lymphoid progenitors. The majority of the CD34+ cells also expressed LFA-1 and L-selectin. Higher numbers of positive cells were found in the myeloid subset. The early myeloid subset showed the highest positivity for L-selectin. We conclude that B lymphoid and early and late myeloid CD34+ precursors in normal bone marrow show a different profile of adhesion molecules. These profiles could reflect a higher tendency of the myeloid CD34+ precursors to circulate.

Adult↗