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Biomedical subjects

L Ducout

Publications and source records attributed to L Ducout.

At least 19 recordsLinked to original sources
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↗
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

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↗
PubMed1999

Factor XI deficiency in the French Basque Country.

Thirty-nine patients with factor XI deficiency were diagnosed in our general hospital, which serves all the French Basque Country (about 290 000 inhabitants), between 1985 and 1995. Biological and clinical data of these cases are reported herein. Factor XI deficiency seems significantly more frequent in Basques than in the other non-Ashkenazi populations. Molecular studies should be performed for typing these cases in the view of population genetics.

Adolescent↗
PubMed1999

De novo and secondary acute myeloid leukemia in patients over the age of 65: a review of fifty-six successive and unselected cases from a general hospital.

Fifty-six patients older than 65 (median age: 77, range: 65-91) were treated in our general hospital, between January 1991 and November 1995 with the diagnosis of AML. Twenty-five were de novo AML (45%). The other cases which were considered as secondary AML (sAML) occurred after: myelodysplastic syndromes (19 cases: 34%), myeloproliferative disorders (7: 13%) or therapy of malignancies (5: 9%). Distribution of FAB subtypes was: M0: 4, M1: 8, M2: 14, M4: 10, M4eo: 1, M5: 10, M6: 1, unclassified: 8. Twenty-seven patients (48%) (de novo: 18, sAML: 9) received conventional "3 + 5" or "3 +7" induction chemotherapy +/- consolidation and maintenance (group 1). Low-dose Ara-C was given in eighteen cases (32%) (group 2), miscellaneous single agents were prescribed in seven cases and two patients received only supportive care. Sixteen early deaths (ED) (<1 month) occurred (29%). Distribution of age, WHO-PS, hyperleukocytosis, ED and median survival (MS) (3 months) was equivalent in de novo and sAML. Fifteen CR were achieved including twelve patients from group 1 (no difference between age <75 versus >75 years) and three from group 2. The MS of CR patients was 13 months. Eleven patients survived more than one year (de novo: 8). M5 subtype, fever >38 degrees C, high LDH level, WHO-PS>2, CR non achievement were predictive of reduced survival. Besides conventional induction, investigational therapies currently remain the best antileukemic modalities. Age per se should not be an exclusion criteria for treatment. Our data underline the high frequency of sAML in the community. Of note, this common type AML is largely excluded from many trials.

Aged↗
PubMed1998

Immunologic thrombocytopenic purpura as presenting symptom of hepatitis C infection.

We report on 3 female patients with immunologic thrombocytopenic purpura (ITP) for whom diagnostic procedures evidenced a chronic Hepatitis C virus (HCV) infection. In 2 cases, a transfusion performed more than 10 years ago represented the probable way of contamination. One patient received a course of steroids, which normalized the platelet counts. Another one has been treated with repeated IV immunoglobulins, which induced partial responses of variable duration. HCV is responsible for many autoimmune manifestations and a search for this virus seems warranted for exploring patients with ITP.

Aged↗
PubMed1998

Epidemiology of myelodysplastic syndromes in a French general hospital of the Basque country.

Epidemiologic studies concerning myelodysplastic syndromes (MDS) are rare. The estimated incidence varies between 1 and 12.6/100,000/year. The aim of this work was to compare our own experience with these data. Our general hospital represents a structure with 1197 beds which serves a population of 290,000 individuals (French Basques). Most of the inhabitants live in a rural environnement. Twenty percent of the population are aged over 65. During a 4-year period (1993-1996), 90 new cases of MDS were diagnosed on bone marrow studies in our laboratory. Among FAB subtypes refractory anemia (RA) represented 27 cases (31%), RA with ring sideroblasts (RARS): 21 (23%), RA with excess of blasts (RAEB) and in transformation (RAEB-t): 22 (24%), chronic myelomonocytic leukemia (CMML): 10 (11%). Ten cases were unclassifiable (11%). Therapy-related MDS were seen in 8 patients. The sex ratio was 1 and the mean age of the patients was 74.3 (range: 23-96), 37% of them being 80 years or older. The calculated incidence was 7.7/100,000/year for the entire cohort and 31.4/100,000/year for people over 65.

Adult↗