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Biomedical subjects

F Bauduer

Publications and source records attributed to F Bauduer.

At least 19 recordsLinked to original sources
PubMed2005

Factor V Leiden, prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics.

Thrombosis results from the interaction between predisposing genetic polymorphisms and acquired risk factors. Two of the main prothrombotic alleles, Factor V (FV) Leiden and prothrombin 20210A, are only encountered among European populations. They are estimated to have arisen about 21,000-34,000 years ago as founding mutations after the evolutionary divergence of Caucasians from Asians, and have been subsequently dispersed by the Neolithic migrations. These polymorphisms may have developed by means of genetic drift or natural selection by possibly conferring a reduced risk of bleeding. Of note, FV Leiden is nearly absent in the Basques, a European population of pre-Neolithic individualization. The C677T mutation of the methylenetetrahydrofolate reductase gene may induce hyperhomocysteinemia and could slightly increase the risk of arterial or venous thrombosis and pregnancy loss in individuals with folic acid deficiency. Through a selective phenomenon, the frequency of the mutation may parallel the intake of this vitamin within populations. Hence, this allele is underrepresented in Sub-Saharan Africa, Indonesia, and in the Inuits and a positive North to South gradient has been described in Europe. Thus, these three inherited prothrombotic polymorphisms represent interesting tools for population genetics studies.

Evolution, Molecular↗
PubMed2004

Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country.

The distribution of HFE mutations was studied in patients from the French Basque Country with hereditary hemochromatosis (HH). The C282Y mutation was underrepresented but H63D seemed to demonstrate the highest prevalence when compared with other European countries. In addition, symptomatic HH was rarer in autochthonous Basques. This profile is interesting to consider in view of population genetics and should be associated with the search for non-HFE mutations.

Adult↗
PubMed2004

Is there a 'Basque' profile regarding autosomal recessive deficiencies of coagulation factors?

When excluding haemophilia and von Willebrand disease, coagulation factors deficiencies constitute rare autosomal recessive disorders (<1 in 500,000) of less precisely defined epidemiology. We have reported herein the distribution of these entities in the French Basque Country, a genetic isolate of very old individualization with peculiar biological specificities. The prevalence of these disorders was markedly high, especially, as already shown, factor XI deficiency. This unusual profile needs to be discussed in the view of population genetics.

Adolescent↗
PubMed2004

Is the assessment of von Willebrand disease prevalence an achievable challenge? The example of the French Basque Country where blood group O and factor XI deficiency are highly prevalent.

The diagnosis of type I von Willebrand disease (VWD) is not straightforward because of the absence of a single clear-cut biological criteria and the interference of several acquired conditions on phenotype expression. We illustrate here this challenge with the French Basque population characterised by a marked high frequency in both blood group O and factor XI deficiency. From this example one may question the validity of epidemiological studies reporting on VWD prevalence.

ABO Blood-Group System↗
PubMed2003

Assessment of the 20210 G to A prothrombin variant in a sample of patients from the French Basque Country with various thrombophilic conditions.

We investigated the distribution of the prothrombin variant G20210A (PT20210A) in a sample of 103 patients (mean age: 34.5 years) living in the French Basque Country and presenting with conditions known to be significantly associated with this peculiar mutation according to a literature review. These patients suffered from repeated personal or familial venous thromboses, stroke at young age, or repetitive maternal-fetal disorders (abortions, preeclampsia, fetal growth retardation). Five patients (4.8%) were found to be carriers: two homozygotes and three heterozygotes (one also heterozygote for factor V Leiden). Of note, two presented with mesenteric venous thrombosis. The distribution of PT20210A among our sample was comparable to data from Western European series albeit a tendency for lower mutation prevalence was observed in our subgroup with obstetrical disorders. In addition, no significant difference in PT20210A frequency was evidenced between autochthonous Basques and individuals from other origins.

Amino Acid Substitution↗
PubMed2003

Severe spontaneous intracranial haematoma in a HIV-negative 66-year-old mild haemophiliac. Complete recovery with the use of 1-month factor VIII replacement.

Intracranial haemorrhage is the most feared manifestation of haemophilia and is usually seen in severe forms. We report herein the case of a 66-year-old HIV-negative patient with mild haemophilia (factor VIII: 7%) who presented with a spontaneous and massive intracranial haematoma causing hemiplegia and aphasia. We discuss the management of this peculiar situation emphasizing the need for rapid and adapted FVIII replacement. A complete recovery was obtained using this strategy combined with initial resuscitation measures and subsequent physical therapy.

Aged↗
PubMed2003

Evaluation of the nutritional status of patients over 60-year admitted in a hematology department using the mininutritional assessment (MNA). A single centre study of 120 cases.

BACKGROUND: The nutritional status of older persons suffering from various medical or surgical conditions has been well reported. However, studies focusing on hematology patients are very rare. OBJECTIVE: Our aim was to obtain a photographic picture of the nutritional profile of a sample population treated for miscellaneous blood disorders, to compare our results with those obtained in other types of diseases and to isolate risk-factors for undernutrition. DESIGN: One hundred-twenty free living hematology patients aged over 60-year were prospectively and randomly tested the day of their admission to either our out- or inpatient clinic (department of clinical hematology from a French general hospital) using the mininutritional assessment (MNA). We compared our data with those from the literature and the role of various risk-factors was evaluated using the chi-square or the Fisher exact test. RESULTS: The sex ratio was 1 and the median age 74 (range: 60-97). The majority of this population suffered from malignant disorders (101 cases, 84%) and fifty-three of them received chemotherapy. Eighty individuals (66%) were tested at the outpatient unit. The mean MNA score was 22.8 (range: 7.5-30). Sixteen patients (13%) were categorized as in poor nutritional status (MNA< 17). In this subgroup, more than 3 drugs intake (p < 0.01) and recent weight loss (p = 0.015) were the most important MNA parameters predicting malnutrition (age, sex, disease type or duration being no significant risk-factors). Our MNA results compared favorably with those obtained in other medical or surgical specialties. CONCLUSION: Undernutrition does not appear more prevalent in the elderly hematology population in comparison with patients suffering from other diseases. However, because nutritional status may influence the outcome, especially in case of blood neoplasms, MNA (or other more sophisticated biological tools) should be included in the evaluation of this population.

Aged↗
PubMed2002

Results of a phase II trial of a combination of oral cytarabine ocfosfate (YNK01) and interferon alpha-2b for the treatment of chronic myelogenous leukemia patients in chronic phase.

Cytarabine ocfosfate (YNK01) is a prodrug analogue of cytarabine which is resistant to systemic deamination after oral administration. Following initial studies indicating significant anti-tumour activity of YNK01 a phase II trial was initiated in order to assess the tolerability and efficacy of a combination of this agent with interferon alpha-2b (IFN-alpha2b) in recently diagnosed chronic phase CML patients (n = 98). The treatment was subdivided into cycles consisting of 4 weeks of continuous administration of IFN-alpha-2b (3 MU/m(2)/day 1st week and then 5 MU/m(2)/day) and 14 days of oral YNK01 (600 mg/day 1st cycle). At the end of each cycle the dose of YNK01 was adjusted according to the blood count observed during the previous 4 weeks. The median time from diagnosis to inclusion in the trial was 2 months (range 6 days to 7.5 months). At 12 weeks, 62 patients (63%; 95% CI, 54-73) achieved a complete hematological response. At 24 weeks, of 98 patients, two achieved a complete cytogenetic response, 14 a partial response (16% major cytogenetic response rate; 95% CI, 9-24) and 34 a minor response; 19 patients were not evaluable for cytogenetic response. During the trial, 20 patients progressed to accelerated (6) or blastic phases (14). The median time to progression was 15 months (range 2-38 months). At 3 years the overall survival was 79% (95% CI, 70-88). Although the complete hematological response rate compared favorably with the 40% response rate previously obtained with the subcutaneous formulation of Ara-c, the cytogenetic response rate was less than expected. Most of the patients experienced side-effects and all permanently stopped YNK01. Although the combination seems attractive the initial dose of 600 mg per day is probably too high and should be reconsidered in further trials.

Administration, Oral↗
PubMed2002

Distribution of haemophilia in the French Basque country.

Because peculiar profiles for some genetic haematological diseases have been described among Basques, we aimed to investigate the distribution of haemophilia among this specific population. Hence, we retrospectively assessed all the cases of factor (F) VIII and FIX deficiencies seen in the French Basque country during a 16-year period. Data on 41 patients with haemophilia (FVIII or FIX = 25%) were compiled. Incidence and prevalence for the whole population ranged within the classical limits (but with an unusually high A : B ratio) and tended to be slightly lower in autochthonous Basques (P = n.s.). Our data did not support significant differences in the distribution of this disease among French Basques.

Adolescent↗
PubMed2001

Genetic hemochromatosis is a rare disease entity among French Basques: a center-based study from the general hospital of Basque County.

A center-based study from the general hospital of Basque country has been performed to evaluate the importance of genetic hemochromatosis among French Basques. A sample of 37 patients from 34 families fulfilling the diagnosis criteria of hemochromatosis was obtained. Only four of them were of Basque origin: two homozygotes for C282Y, one homozygote for H63D, and one heterozygote for C282Y. These results suggest a significant lower prevalence of genetic hemochromatosis in Basques than in people from other French regions (P=0.001). They underline further the biological specificity of this population.

Adult↗
PubMed2001

Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation.

A mild haemophilia A (factor VIII [FVIII] 10%) was discovered in a 73-year-old man during the preoperative haemostasis tests before a total knee arthroplasty for treatment of degenerative senile arthropathy. No history of previous abnormal bleeding was noted in spite of several previous challenging surgical procedures. Acquired haemophilia was ruled out and no other cases of haemophilia were found in the family. The surgery was successfully performed under recombinant FVIII aimed at achieving an FVIII level above 60%. This therapy induced the transient appearance of low-titre FVIII antibodies. A still unpublished mutation within the exon 3 (Gly73Ala) was found with molecular studies. This case report underlines the importance of haemostasis tests before high-risk bleeding surgical procedures even in elderly patients without a past history of haemorrhagic tendency.

Aged↗
PubMed2001

A randomized prospective multicentre trial of cefpirome versus piperacillin-tazobactam in febrile neutropenia.

Fever is frequently the only clinical sign of infection in patients with chemo-induced neutropenia. In this setting, empirical administration of broad spectrum antibiotics must be rapid. The aim of this work was to compare, for the first time, cefpirome (CPO) and piperacillin-tazobactam (PT) in a large randomized trial. Two hundred-eight febrile neutropenic episodes (FNE) (> or = 38.5 degrees C and ANC < or = 0.5 giga/l) were treated by randomization, as first line therapy, using either CPO 2 g x 2/day (105 cases) or PT 4 g x 3/day (103 cases), alone (CPO: 15/PT: 15), or plus aminoglycoside (165 cases, CPO: 82/PT: 83) or quinolone (CPO: 2/PT: 2). There were 131 men and 77 women aged between 17 and 83 years (median: 49) who received chemotherapy (n = 160) or allogeneic (n = 10) or autologous (n = 38) stem cell transplantations. Underlying diseases were: acute leukemia (n = 131), lymphoma (n = 33), myeloma (n = 16), solid tumor (n = 8), myeloproliferative disorder (n = 9), chronic lymphoid leukemia (n = 5), aplastic anemia (n = 3), myelodysplasia (n = 3). Distribution of age, neutropenia duration (median: 17 days), underlying disease, and protocol therapy duration (median: 11 days) was comparable in both arms. A microbiologically documented infection (MDI) was evidenced in 57 cases (27%). Bacteria were isolated from blood cultures in 54 cases (Gram positive: 32 cases). Their in vitro susceptibility rates to CPO and PT were not different. Two days after antibiotics initiation, clinical (fever disappearance) and microbiological (culture negativation) success rates (SR) were 62% for CPO versus 61% for PT and 50% versus 55% respectively in case of MDI (p = 0.89). Two deaths and 77 failures were registered. At the end of protocol, SR (no antibiotic change/absence of superinfection) was 59% with CPO versus 50% with PT (p = 0.27) and 53% versus 40% respectively in the 151 cases with neutropenia > or = 10 days (p = 0.17). The occurrence of side effects was similar in both arms. In our hands, the efficacy of CPO and PT was comparable for treating FNE.

Adolescent↗