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Biomedical subjects

Philippe de Mazancourt

Publications and source records attributed to Philippe de Mazancourt.

At least 19 recordsLinked to original sources
PubMed2007

A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]).

The clinical features and molecular biology data of a case of afibrinogenemia are reported. The propositus is a 14-year-old girl who suffered several bleeding manifestations that were successfully treated with fibrinogen infusion. The afibrinogenemia results from compound heterozygosity for two mutations on the Aalpha chain gene (c.[4110delA]+[3200+1G>T]). The first mutation is a novel frameshift mutation inherited from her father. The second is a previously described Aalpha chain gene splice junction mutation inherited from her mother. Neither of the parents fulfills the criteria for hypofibrinogenemia.

Adolescent↗
PubMed2006

Allele frequencies and haplotypes of eight Y-short tandem repeats in Bantu population living in Central Africa.

Eight Y chromosome short tandem repeats (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385I/II) were used to assess haplotype distribution in non-selected, unrelated Bantu males living in Central Africa [N. Mathias, M. Bayes, C. Tyler-Smith, Highly informative compound haplotypes for the human Y chromosome, Hum. Mol. Genet. 3 (1994) 115-123; L. Roewer, J. Arnemann, N.K. Spurr, K.H. Grzeschik, J.T. Epplen, Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts, Hum. Genet. 89 (1992) 389-394; P. De Knijff, M. Kayser, A. Caglia, D. Corach, N. Fretwel, C. Gehrig, G. Graziosi, F. Heidorn, S. Herrmann, B. Herzog, M. Hidding, K. Honda, M. Jobling, M. Krawczak, K. Leim, S. Meuser, E. Meyer, W. Oesterreich, A. Pandya, W. Parson, G. Penacino, A. Perez-Lezaun, A. Piccini, M. Prinz, C. Schmitt, P. M. Schneider, R. Szibor, J. Teifel-Greding, G. Weishold, L. Rower, Chromosome Y microsatellites: population genetic and evolutionary aspects, Int. J. Legal Med. 110 (1997) 134-149; M. Kayser, A. Caglia, D. Corach, N. Fretwel, C. Gehrig, G. Graziosi, F. Heidorn, S. Herrmann, B. Herzog, M. Hidding, K. Honda, M. Jobling, M. Krawczak, K. Leim, S. Meuser, E. Meyer, W. Oesterreich, A. Pandya, W. Parson, G. Penacino, A. Perez-Lezaun, A. Piccini, M. Prinz, C. Schmitt, P. M. Schneider, R. Szibor, J. Teifel-Greding, G. Weishold, P. de Knijff, L. Rower, Evaluation of Y chromosome STRs: a multicenter study, Int. J. Legal Med. 110 (1997) 125-133, 141-149]. One hundred and sixty-five full haplotypes were obtained from Bantu males. The most common haplotype (DYS19-15, DYS389I-13, DYS389II-30, DYS390-21, DYS391-10, DYS392-11, DYS393-13, DYS385I/II-15,17) was shared by 5.5% of individuals. In the Bantu population in Central Africa, the haplotype diversity and the discrimination capacity of Y-STR may be estimated at 99.14% and 0.5333, respectively.

Central African Republic↗
PubMed2006

Morphine and 6-acetylmorphine concentrations in blood, brain, spinal cord, bone marrow and bone after lethal acute or chronic diacetylmorphine administration to mice.

The aim of this study was to evaluate postmortem incorporation of opiates in bone and bone marrow after diacetylmorphine (heroin) administration to mice. Mice were given acute (lethal dose of 300 mg/kg) or chronic (10 and 20 mg/kg/24 h for 20 days) intraperitoneal administration of diacetylmorphine. The two metabolites of diacetylmorphine, 6-acetylmorphine (6-AM) and morphine, were extracted from whole blood, brain, spinal cord, bone marrow and bone (after hydrolysis) using a liquid/liquid method. Quantification was performed by gas chromatography-mass spectrometry (GC/MS). Results showed that after acute administration, opiates were present in all studied tissues. Morphine concentrations appeared to be higher than those of 6-AM in blood (52.4 microg/mL versus 27.7 microg/mL, n=12), bone marrow (87.8 ng/mg versus 8.9 ng/mg, n=6) and bone (0.85 ng/mg versus 0.43 ng/mg, n=6), but 6-AM concentrations were higher than those of morphine in brain (14.0 ng/mg versus 7.4 ng/mg, n=12) and spinal cord (27.8 ng/mg versus 20.8 ng/mg, n=12). No correlation was found for both compounds between blood concentrations and either brain, spinal cord, bone or bone marrow concentrations while a significant one was found between brain and spinal cord concentrations either for morphine (r=0.89, n=12, p<0.001) or 6-AM (r=0.93, n=12, p<0.001), the concentration being higher in spinal cord than in brain. When bones were stored for 2 months, only 6-AM remained in bone marrow but not in bone. After chronic administration, mice being sacrificed by cervical dislocation 24 h after the last injection, no opiate was detected in any studied tissues. Further studies are required, in particular in human bones, but these results seem to show that 6-AM could be detect in bone marrow several weeks after the death and could be an alternative tissue for forensic toxicologist to detect a fatal diacetylmorphine overdose, even if no correlation between blood and bone marrow was observed. On the other hand, neither bone tissue nor bone marrow will allow the confirmation of a chronic diacetylmorphine use.

Analgesics, Opioid↗
PubMed2006

Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia.

A patient with a severe prothrombin deficiency and a hemorrhagic diathesis was found to have positive cross-reactive material in plasma and a homozygous F299V mutation (F7V in the A chain). This mutation reinforces the previous conclusion that the A chain affects the geometry of the catalytic triad. Marked prolongation of the Taipan venom and Russell venom clotting times also demonstrated a defective activation mechanism and a defective interaction with factor Xa.

Adult↗
PubMed2006

A novel LC-ESI-MS-MS method for sensitive quantification of colchicine in human plasma: application to two case reports.

A novel method based upon liquid chromatography coupled to ion trap mass spectrometry (MS) detection with electrospray ionization interface has been developed for the identification and quantification of colchicine in plasma or whole blood. Colchicine was isolated from plasma using a liquid-liquid extraction with dichloromethane at pH 8.0 and embutramide as an internal standard, with satisfactory extraction recoveries. Solutes were separated on a 3-microm C18 Uptisphere (Interchim) column (150 x 2.0-mm i.d.) using acetonitrile/2 mM NH4COOH pH 3.8 buffer (50:50, v/v) as the mobile phase with a flow-rate of 200 microL/min. Data were collected either in full-scan MS mode at m/z 100-450 or in full-scan MS-MS mode, selecting the ion m/z 400.1 for colchicine and m/z 294.1 for embutramide. The most intense daughter ion of colchicine (m/z 358.1) and embutramide (m/z 207.9) were used for quantification. Retention times were 2.40 and 4.25 min for colchicine and embutramide, respectively. Calibration curves were linear in the 0.50-50 ng/mL range. The limits of detection and quantification were 0.05 ng/mL and 0.50 ng/mL, respectively. The intra- and interassay precisions were < 14%, and the intra- and interassay accuracies were in the 97-105.8% range at either 2 or 20 ng/mL. A fatal case of colchicine self-poisoning with a lethal blood concentration of 60 ng/mL and nonfatal case with a plasma sample collected very late (at least 36 h after the ingestion) are presented. The described method enables the unambiguous identification and quantification of colchicine with a very good sensitivity, using only 1 mL of sample.

Adult↗
PubMed2006

Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.

Factor XI (FXI) deficiency is an inherited autosomal recessive disorder associated with bleeding of variable severity. However, many cases of dominant disease transmission have been recently described. This disorder is rare in the general population, whereas it is commonly found in individuals of Ashkenazi Jewish ancestry. This study reports the molecular genetic analysis of FXI deficiencies in 11 unrelated families of different origin. Five novel mutations have been identified. Severe FXI deficiency of two unrelated patients resulted from two novel mutations: one deletion (960-961delGT) in exon 9 predicting a frameshift, and a Ser-4Leu mutation located in the signal peptide. In addition, three novel missense mutations associated with partial FXI deficiency have been identified: Cys122Tyr, Glu297Lys and Glu579Lys.

Adult↗
PubMed2005

Discrepancies between forensic identification kits explained by a laser power supply shutdown.

The occurrence of two null alleles for the same individual was suspected because of the discrepancy at two loci (vWA and THO1) between genotypes characterized by the mean of two different commercial kits. Reanalysis of the samples indicated there was no null allele, and that this abnormality was indeed related to an automatic laser power shutdown. The laser power supply was set to a value (6.4V) too close to the automatic shutdown threshold (6.0V). The alleles were undetected because of the absence of emission at the time of migration of the two alleles through the detection device. However, since no alarm is triggered in such an event, the users should monitor their laser power supply values.

Alleles↗
PubMed2005

Study of the diagnostic value of iron in fresh water drowning.

The aim of our study was to test the diagnostic value of iron (Fe) in fresh water drowning by investigating the postmortem levels of hemodilution in drowning cases compared to control cases. Twenty-six typical fresh water drowning cases were selected from 128 immersion cases autopsied in our Department of Forensic Pathology between 1998 and 2004. The exclusion criteria were a long postmortem interval and other causes of death than drowning. For all selected cases, the diagnosis of drowning was based on the presence of autopsy findings and positive diatom test. A control population of 12 cases was also selected. For each drowning and control case, iron blood levels were measured in the left ventricle (LV) and right ventricle (RV) of the heart. The mean difference of iron concentration (RVFe-LVFe) between the drowning group and the control group was statistically compared. Furthermore, iron measurements were performed in 19 drowning cases showing advanced putrefaction. The mean difference of iron concentration was significantly higher in the drowning cases compared with controls (P<0.001). All drowning cases showed hemodilution. No overlap was found in the RVFe-LVFe levels between the two groups. Resuscitation attempts seemed to have no effect on the results. In cases of drowning showing advanced putrefaction, the iron test was not reliable because biochemical iron measurement was often prevented by no sufficient blood in the heart or postmortem clots. In conclusion, according to our results, iron seems to be a good biochemical marker in fresh water drowning with a short postmortem interval.

Adolescent↗
PubMed2005

Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation.

We have identified a novel heterozygous fibrinogen gamma chain mutation, gammaN345S (Fibrinogen Saint-Germain II), in a subject with hypofibrinogenemia. There was no evidence by mass spectrometry of plasma fibrinogen containing the mutant chain. The hypofibrinogenemia was discovered in a 26-year-old man who experienced extensive deep venous thrombosis of the left leg associated with pulmonary embolism. Investigation of potential thromboembolic risk factors revealed heterozygosity of the factor V R506Q mutation (factor V Leiden) and heterozygosity of the prothrombin gene G20210A mutation. The hypofibrinogenemia may be contributory to the thrombophilic manifestations.

Adult↗
PubMed2004

Simultaneous determination of thirteen beta-blockers and one metabolite by gradient high-performance liquid chromatography with photodiode-array UV detection.

A new rapid and sensitive high-performance liquid chromatography (HPLC) method has been developed for the simultaneous identification and quantification in human plasma of the 13 most commonly prescribed beta-blockers and one active metabolite-atenolol, sotalol, diacetolol, carteolol, nadolol, pindolol, acebutolol, metoprolol, celiprolol, oxprenolol, labetalol, propranolol, tertatolol and betaxolol. It involves liquid-liquid extraction procedures followed by liquid chromatography coupled to photodiode-array UV detection with a fixed wavelength at 220 nm for quantification. Compounds were separated on a 5 microm Hypurity C(18) (ThermoHypersil) analytical column (250 mm x 4.6 mm, i.d.) using a gradient of acetonitrile-phosphate buffer pH 3.8 at a flow rate of 1.0 ml/min. The total analysis time was 26 min per sample. Extraction recoveries were between 74 and 113% for the polar compounds and between 20 and 56% for the most apolar compounds. Calibration lines were linear in the range from 25 to 1000 ng/ml for all compounds excepted carteolol and nadolol (50-1000 ng/ml), all of them with coefficients of determination (r2 values) >/=0.994. Limits of detection (LODs) ranged from 5 to 10 ng/ml. Intra-assay and inter-assay precision and accuracy were studied at two concentration levels (100 and 500 ng/ml). The intra-assay coefficients of variation (CVs) for all compounds were </= 8.3% and all inter-assays CVs were below 12.6%. The intra-assay and inter-assay accuracies for all compounds were found to be within 91.4 and 105.6% at 100 ng/ml and within 94.1 and 107.4% at 500 ng/ml. Thus, the performance of the method described allows its use in toxicological screening and in quantification of the most prescribed beta-blockers drugs.

Adrenergic beta-Antagonists↗
PubMed2004

Liquid chromatography/photodiode array detection for determination of strychnine in blood: a fatal case report.

An original liquid chromatography method with photodiode-array detection (DAD) is presented for the determination of strychnine in blood. This sensitive method allows the use of only 0.1 ml of sample. The strychnine was isolated from blood using a liquid-liquid extraction procedure and chloroquine as an internal standard. The limits of detection (LOD) and quantification were 0.06 and 0.5 mg/l, respectively. The recovery was 94% and the coefficients of variation (CV) ranged from 5.9 to 10.8%. A fatal case of strychnine poisoning is presented, with a lethal blood concentration of 25 mg/l.

Adult↗
PubMed2004

A rapid and sensitive high-performance liquid chromatography method for determination of embutramide (a Tanax or T61 component) in human blood with photodiode-array UV detection.

Tanax or T61 is an euthanasia solution commonly used in veterinary medicine. Embutramide is one of the three components. In accidental intoxication, suicide, or suicide attempt, the determination of embutramide is needed to confirm the hypothesis of intoxication. Because the amount of sample is sometimes limited in forensic cases, a new rapid and sensitive high-performance liquid chromatography method using only 0.1 mL of blood has been developed with liquid-liquid extraction. The eluate was monitored with a photodiode-array detector with a fixed wavelength at 273 nm. The method provided extraction recoveries greater than 83%. The detection limit was 0.2 mg/L, and the limit of quantitation was 0.6 mg/L. The linearity of standards was excellent (r > 0.997). Intra- and interday precisions were acceptable with a coefficient of variation <or= 10.7% in all cases. This method was applied to the first case of suicide by a known quantity of embutramide after intravenous administration, showing a blood concentration of 90 mg/L and allowing estimation of the embutramide volume of distribution in humans (1.6 L/kg)

Adult↗
PubMed2004

cAMP-positive regulation of angiotensinogen gene expression and protein secretion in rat adipose tissue.

The adipose renin-angiotensin system (RAS) has been assigned to participate in the control of adipose tissue development and in the pathogenesis of obesity-related hypertension. In adipose cells, the biological responses to beta-adrenergic stimulation are mediated by an increase in intracellular cAMP. Because cAMP is known to promote adipogenesis and because an association exists between body fat mass, hypertension, and increased sympathetic stimulation, we examined the influence of cAMP on angiotensinogen (ATG) expression and secretion in rat adipose tissue. Exposure of primary cultured differentiated preadipocytes to the cAMP analog 8-bromoadenosine 3',5'-cyclic monophosphate (8-BrcAMP) or cAMP-stimulating agents (forskolin and IBMX) results in a significant increase in ATG mRNA levels. In adipose tissue fragments, 8-BrcAMP also increases ATG mRNA levels and protein secretion, but not in the presence of the protein kinase A inhibitor H89. The addition of isoproterenol, known to stimulate the synthesis of intracellular cAMP via beta-adrenoreceptors, had the same stimulatory effect on ATG expression and secretion. These results indicate that cAMP in vitro upregulates ATG expression and secretion in rat adipose tissue via the protein kinase A-dependent pathway. Further studies are required to determine whether this regulatory pathway is activated in human obesity, where increased sympathetic tone is frequently observed, and to elucidate the importance of adipose ATG to the elevated blood pressure observed in this pathological state.

Adipose Tissue↗
PubMed2004

Successful extraction of human genomic DNA from serum and its application to forensic identification.

We report here on the successful extraction of human genomic DNA from a serum sample in a forensic case. The extracted DNA was successfully used for the identification of remains presumably immersed for more than three weeks for which the only comparison sample was a 250-microL serum aliquot kept frozen in a laboratory. The analysis made it possible to identify a second victim as the daughter of the first.

Adult↗
PubMed2003

A splicing donor site point mutation in intron 6 of the plasmin inhibitor (alpha2 antiplasmin) gene with heterozygous deficiency and a bleeding tendency.

A new case of familial plasmin inhibitor (alpha2 antiplasmin) deficiency is reported. The bleeding symptoms are moderate, happening after surgery or trauma or consisting of abnormal uterine bleeding induced by hormone replacement therapy. It is easily corrected with tranexamic acid. Gene sequencing makes it possible to find a splicing donor site mutation of intron 6, leading to exon 6 skipping. Neither a shortened variant nor an abnormal plasmin interaction was found in plasma by immunoblotting, and fibrin binding is unaffected. The mutation is heterozygous, associated with an intermediate decrease of both antiplasmin activity and antigen levels, and was found in four other family members out of five tested. It is different from the five mutations previously reported. At the time of diagnosis, the patient was living in Artas, France, allowing the defect to be named plasmin inhibitor (alpha2 antiplasmin) Artas.

Family Health↗
PubMed2003

A high-performance liquid chromatography method with photodiode-array UV detection for therapeutic drug monitoring of the nontricyclic antidepressant drugs.

A new rapid and sensitive high-performance liquid chromatography method has been developed for the screening and determination in human plasma of the 11 most commonly prescribed nontricyclic antidepressants and two metabolites: fluoxetine, norfluoxetine, sertraline, paroxetine, citalopram, fluvoxamine, moclobemide, mirtazapine, milnacipram, toloxatone, venlafaxine, desmethyl venlafaxine, and viloxazine. It involves liquid-liquid extraction procedures followed by liquid chromatography coupled to photodiode-array UV detection with three fixed wavelengths (220, 240, and 290 nm). Compounds were separated on a 5-microm Hypurity C18 (ThermoHypersil) analytic column (250 x 4.6 mm i.d.) using a gradient of acetonitrile-phosphate buffer pH 3.8 at a flow rate of 1.0 mL/min. The total analysis time was only 18 min per sample. Extraction recoveries were in the 74-109% range for 11 compounds but were of only 59% for moclobemide and less than 10% for toloxatone. Calibration curves were linear in the 25 to 1000 ng/mL range for all compounds, all of them with coefficients of determination (r2 values) > or = 0.999. Limits of detection (LODs) ranged from 2.5 to 5 ng/mL except for toloxatone (10 ng/mL). Intraassay and interassay precision and accuracy were studied at two concentration levels (50 and 500 ng/mL). The intraassay coefficients of variation (CVs) for all compounds were < or = 7.6%, and all interassay CVs were below 11.5% except for milnacipram (14.8%). The intraassay and interassay accuracies for all compounds were found to be within 88.4% and 105.9% at 50 ng/mL and within 87.2% and 100.5% at 500 ng/mL. The performance of the method allows the therapeutic drug monitoring of the most prescribed nontricyclic antidepressant drugs as well as its use in toxicologic screening.

Antidepressive Agents↗
PubMed2003

Fibrinogen Poissy II (gammaN361K): a novel dysfibrinogenemia associated with defective polymerization and peptide B release.

A fibrinogen variant was identified in a pregnant patient with disseminated intravascular coagulation and abruptio placentae. This dysfibrinogen was also found in four asymptomatic members of the patient's family. Coagulation studies showed prolongation of both the thrombin and reptilase times, and discrepancy was noted between the levels of plasma fibrinogen as determined by a kinetic versus an immunological determination or light-scattering assay. Studies on purified fibrinogen revealed an impaired release of fibrinopeptide B by thrombin related to a delayed thrombin-induced fibrin polymerization. DNA sequencing revealed a heterozygous T <-- A point mutation in position 9373 of the gamma-chain gene (exon 9), which substituted a K for an N at position 361.

Abruptio Placentae↗