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C Cabrol

Publications and source records attributed to C Cabrol.

At least 19 recordsLinked to original sources
PubMed2006

Combination of broad molecular screening and cytogenetic analysis for genetic risk assignment and diagnosis in patients with acute leukemia.

We evaluated the impact of genetic analysis combining cytogenetics and broad molecular screening on leukemia diagnosis according to World Health Organization (WHO) and on genetic risk assignment. A two-step nested multiplex RT-PCR assay was used that allowed the detection of 29 fusion transcripts. A total of 186 patients (104 males (56%), 174 adults (94%), 12 children (6%), 155 AML (83%), 31 ALL (17%)) characterized by morphology and immunophenotyping were included. Of these 186 patients, 120 (65%) had a genetic abnormality. Molecular typing revealed a fusion transcript in 49 (26%) patients and cytogenetic analysis revealed an abnormal karyotype in 119 (64%). A total of 27 (14%) cases were genetically classified as favorable, 107 (58%) intermediate and 52 (28%) unfavorable. For 38 (20%) patients, there was a discrepancy in the genetic risk assignments obtained from broad molecular screening and cytogenetics. Cryptic fusion transcripts in nine (5%) patients changed the genetic risk assignment in four and the WHO classification in four patients. In 34 patients (18%), cytogenetics defined the risk assignment by revealing structural and numerical chromosomal abnormalities not detected by molecular screening. Broad molecular screening and cytogenetics are complementary in the diagnosis and genetic risk assignment of acute leukemia.

Acute Disease↗
PubMed2006

NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.

The NUP98 gene is fused with 19 different partner genes in various human hematopoietic malignancies. In order to gain additional clinico-hematological data and to identify new partners of NUP98, the Groupe Francophone de Cytogénétique Hématologique (GFCH) collected cases of hematological malignancies where a 11p15 rearrangement was detected. Fluorescence in situ hybridization (FISH) analysis showed that 35% of these patients (23/66) carried a rearrangement of the NUP98 locus. Genes of the HOXA cluster and the nuclear-receptor set domain (NSD) genes were frequently fused to NUP98, mainly in de novo myeloid malignancies whereas the DDX10 and TOP1 genes were equally rearranged in de novo and in therapy-related myeloid proliferations. Involvement of ADD3 and C6ORF80 genes were detected, respectively, in myeloid disorders and in T-cell acute lymphoblastic leukemia (T-ALL), whereas the RAP1GDS1 gene was fused to NUP98 in T-ALL. Three new chromosomal breakpoints: 3q22.1, 7p15 (in a localization distinct from the HOXA locus) and Xq28 were detected in rearrangements with the NUP98 gene locus. The present study as well as a review of the 73 cases previously reported in the literature allowed us to delineate some chromosomal, clinical and molecular features of patients carrying a NUP98 gene rearrangements.

Adolescent↗
PubMed2005

Cytogenetic study of 75 erythroleukemias.

Chromosomal abnormalities of erythroleukemia (EL) are often described as complex and unspecific. A retrospective study of 75 EL defined following the WHO classification was performed by the Groupe Francophone de Cytogénétique Hématologique (GFCH) in order to reexamine the cytogenetics of this infrequent leukemia subtype. Clonal chromosomal abnormalities were found in 57 patients (76%), distributed in 4 subgroups according to their ploidy status: pseudodiploid (16%), hypodiploid (47%), hyperdiploid (19%), and 18% mixed cases associating 2 different clones (hypodiploid+hyperdiploid) or (pseudodiploid+hyperdiploid). Complex rearrangements and hypodiploid chromosome number were widely dominant (50%). Partial or entire monosomies represented 56% of abnormalities. Chromosomes 5 and 7 were the most frequently involved (41 and 33 times, respectively), followed by chromosomes 8, 16, and 21 (19 times each). Unbalanced abnormalities were more frequent than balanced. All these kinds of abnormalities were observed in de novo as well as in secondary EL. Four out of 7 cases of "pure erythroid" leukemia were associated with a BCR-ABL fusion. Lastly, no chromosome abnormality specific to EL could be established. However, the large overlap of chromosomal abnormality patterns of EL (pure erythroid form excepted) and refractory anemia with excess of blasts in transformation (RAEB-t) favors the hypothesis of similarities between these 2 hematologic disorders.

Adolescent↗
PubMed1999

Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).

The ETV6 gene (also known as TEL) is the main target of chromosomal translocations affecting chromosome band 12p13. The rearrangements fuse ETV6 to a wide variety of partner genes in both myeloid and lymphoid malignancies. We report here 4 new cases of acute myeloid leukemia (AML) with very immature myeloblasts (French-American-British [FAB]-M0) and with a t(4;12)(q11-q12;p13). In all cases, ETV6 was found recombined to a new gene, homologous to the mouse Brx gene. The gene was named BTL (Brx-like Translocated in Leukemia). Reverse transcriptase-polymerase chain reaction (RT-PCR) experiments indicate that the expression of the BTL-ETV6 transcript, but not of the reciprocal ETV6-BTL transcript, is a common finding in these leukemias. In contrast to the majority of other ETV6 fusions, both the complete helix-loop-helix (HLH) and ETS DNA binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and the chimeric gene is transcribed from the BTL promoter.

Acute Disease↗
PubMed1997

Active native valve endocarditis: determinants of operative death and late mortality.

BACKGROUND: In this report, we reviewed 247 patients who underwent operation by our team for active native valve endocarditis between January 1979 and December 1993. METHODS: There were 201 male and 46 female patients (mean age, 45.4 +/- 6 years). The aortic valve was involved in 163 cases, the mitral valve in 36 cases, both mitral and aortic valves in 44 cases, and the tricuspid valve alone in 4 cases. The most common microorganisms were streptococci. Univariate Pearson (chi2 test) and multivariate (stepwise logistic regression [BMDPLR]) analyses were used to identify significant predictors of operative mortality, reoperation, and recurrent endocarditis. Cox proportional hazards regression model was used to study late survival. RESULTS: Operative mortality was 7.6% (n = 19). Increased age, cardiogenic shock at the time of operation, insidious illness, and greater thoracic ratio (>0.5) were the predominant risk factors; the length of antibiotic therapy appeared to have no influence. Two hundred thirteen patients were followed up. Median follow-up time was 6 years (range, 2 to 19 years). Overall survival rate (operative mortality excluded) was 71.3% +/- 3.8% at 9 years. Increased age, preoperative neurologic complications, cardiogenic shock at the time of operation, shorter duration of the illness, insidious illness before the operation, and mitral valve endocarditis were the predominant risk factors for late mortality. The probability of freedom from reoperation (operative mortality included) was 73.3% +/- 4.2% at 8 years; risk factors were younger age and aortic valve endocarditis. The rate of prosthetic valve endocarditis was 7%. No significant risk factor was found. CONCLUSIONS: Increased age, insidious illness, and hemodynamic failure are the main risk factors for operative mortality. Long-term survival is good except for patients with preoperative neurologic complications and mitral valve endocarditis.

Adult↗
PubMed1997

Nonpenetrating clips for coronary anastomosis.

BACKGROUND: A nonsuture clip technique (nonpenetrating titanium clips applied to everted tissue edges at high compressive forces) was used to perform coronary anastomoses in a clinical setting. METHODS: Clipped coronary anastomoses were performed in 10 patients. The anastomoses incorporated the left internal mammary artery to the left anterior descending artery (n = 1) and the saphenous vein to the right coronary artery (n = 5), the posterior descending artery (n = 2), the diagonal artery (n = 2), and one vein-to-vein proximal anastomosis (n = 1). RESULTS: The mean duration for completion of the anastomoses was 15 minutes (range, 7 to 20 minutes). This time was reduced from 20 minutes at the beginning of the clinical experience to 7 minutes for the last 3 patients. No technical complication was related to clip application and all patients had uneventful outcomes. Three anastomoses studied by coronary angiography were patent without stenosis. CONCLUSION: The clipped anastomotic technique has a rapid learning curve, the same safety as suture methods, and the potential for facilitating endoscopic vascular reconstructions.

Anastomosis, Surgical↗
PubMed1997

Myelodysplastic syndrome with biclonal monosomy 7 and trisomy 8 after treatment with cladribine (2-chloro-2-deoxyadenosine) and involved field radiation therapy.

Therapy-related myelodysplastic syndrome (t-MDS) and acute nonlymphocytic leukemia (t-ANLL) are dramatic complications of cancer chemotherapy. Drugs like plant alkaloids or antimetabolites have not been reported to cause either t-MDS or t-ANLL. Monosomy 7(-7) and trisomy 8(+8) are among the most common abnormalities in myelodysplastic syndromes. Both abnormalities in two different clones of the same patient are very rarely reported. Such a myelodysplastic syndrome occurring shortly after treatment with an antimetabolite, the adenosine analogue cladribine (1-chlorodeoxadenosine), and involved field radiotherapy is reported here.

Adult↗
PubMed1997

Position-related factors in mitral and tricuspid bioprostheses degenerative changes.

We report clinicopathological findings in 15 patients in whom the same bioprosthesis (BP) had been implanted simultaneously in both mitral and tricuspid positions. The aim of the study was to investigate whether position-related factors played an important role in BP degeneration. There were 14 women and 1 man with a mean age of 34 +/- 11 years. The indications for the initial operation were rheumatic in 14 cases and endocarditis in one patient. The mean interval before reoperation was 7.5 +/- 3.3 years. Predominant cause of reoperation was: structural deterioration of both mitral and tricuspid BPs (6), mitral regurgitation (5), tricuspid BP dysfunction (1), para-aortic leak (1), mitro-aortic thrombi (1). Calcific deposits were the principal cause of early deterioration of mitral BPs and the major cause of late tricuspid BPs dysfunction. This lesion was predominantly related to local factors. Cuspal tears were the principal cause of late (> 9 yrs) mitral BP failure and most probably related to mechanical stress. Extensive fibrosis affected only tricuspid bioprostheses. In 7 patients more extensive degenerative changes occurred in bioprostheses in the mitral rather than the tricuspid position (Group I). However, in the remaining eight the magnitude of the changes was very similar in the two positions (Group II). The interval before reoperation was significantly longer in patients of Group II (9.8 yrs, range 5-13) than patients in Group I (4.9 yrs, range 3-6), (p < 0.01). We concluded that position-related factors exert a major role in bioprosthetic failure. These factors are more deleterious in the mitral position than in the tricuspid position.

Adolescent↗
PubMed1996

Heart transplant for the failing ischaemic ventricle.

Clinical application of heart transplantation goes beyond 28 years experience. Ischaemic heart diseases remain, with idiopathic cardiomyopathies, the main indications for cardiac transplant. A combination of haemodynamic, contractile and viability measurements may be useful to choose between transplant and coronary revascularization for the failing ischaemic ventricle. Advances in the detection of early rejection, improved organ preservation procedures, and the introduction of new immunosuppressive therapy protocols have produced dramatic results in heart transplantation. Late graft atherosclerosis remains a serious threat despite retransplantation and, in some cases, mechanical circulatory support.

Contraindications↗
PubMed1996

[Long term results of the surgical treatment of obstructive hypertrophic cardiomyopathies].

Between January 1973 and December 1993, 66 patients underwent surgery in our department for hypertrophic obstructive cardiomyopathy; mean basal outflow gradient was 48.4 +/- 36 mmHg, 20 patients had mitral valve lesions. Thirty six patients underwent myotomy-myomectomy alone, 13 mitral valve replacement alone, and 17 both myotomy-myomectomy and mitral valve replacement. The 30-day mortality rate was 7.5% for all patients; predominant risk factors were gender (female), greater cardiothoracic ratio, preoperative episodes of atrial fibrillation and lack of syncope. Overall survival rate (operative mortality included) was 65.3 +/- 8.6% at 13 years. Predominant risk factors for late mortality were the same than above, plus mitral valve replacement; so mitral valve repair, whenever feasible should be undertaken. Forty nine patients are still followed up: 46 are asymptomatic; Doppler mean basal outflow gradient was reduced to 10 +/- 1.4 mmHg. In conclusion, surgery relieves symptoms and outflow obstruction, and allows mitral valve reconstruction.

Actuarial Analysis↗
PubMed1995

Effect of cold anoxia and cryopreservation on metabolic and contractile functions of human mammary artery.

The ability of human internal mammary artery smooth muscle cells to maintain histoenzymatic activity and contractile response after various times of cold anoxia prior to and following cryostorage was evaluated. The results showed that the enzyme histochemical status of human mammary arteries was largely unchanged after both cold anoxia and cryopreservation. Neither in fresh nor in cryopreserved mammary arteries did cold anoxia for up to 24 h change maximal contractile responses to potassium depolarization and norepinephrine. However, compared to unfrozen controls, the contractile responses were significantly reduced in cryopreserved mammary arteries. In conclusion, after cryopreservation of human mammary arteries, the enzyme activities were globally maintained, whereas the contractile responses were reduced. For up to 24 h after harvesting cold anoxia at 4 degrees C is well tolerated and allows preservation of metabolic and functional properties of these arteries.

Cell Hypoxia↗
PubMed1995

Extra-annular procedures in the surgical management of prosthetic valve endocarditis.

Severe acute endocarditis can be associated with major destruction of the annulus. Meticulous surgical debridement of friable necrotic material is always necessary and major damage to the annulus of the valve may impair secure seating of the prosthesis. Extra-annular implantation of a prosthesis may be a life-saving procedure when annular implantation is impossible. Between 1978 and 1989, 36 patients underwent extra-annular complex procedures for annular abscesses. The infection involved the aortic prosthesis and the annulus in 22 patients, and the mitral prosthesis and the annulus in 14 patients. In cases of aortic root abscess, a subcoronary valved graft (11 patients), a supracoronary valved conduit (ten patients) or a left ventricle-abdominal aorta valved conduit (one patient) were implanted. In cases of mitral valve endocarditis with extensive annular abscess, intra-atrial insertion of a mitral prosthesis was performed. In such cases, repair of the aortic root with a valved conduit or intra-atrial implantation of a mitral valvular prosthesis can be life saving and can be expected to give excellent long-term results.

Abscess↗
PubMed1995

Clinical experience with a total artificial heart as a bridge for transplantation: the pitie experience.

Since April 1986, 82 patients have received a pneumatic total artificial heart, 62 a JARVIK-7, and 20 a Cardiowest. The duration of support ranged from less than 1 day to 603 days (mean duration: 27 +/- 82). The indications were for acute shock (38 cases) or for chronic deterioration on the transplant waiting list (44 cases). The etiology was mainly due to idiopathic and ischemic cardiomyopathy. With the help of our scoring system, we divided our patients in three groups: Chronic Implantation, represented by two females staying on device for 6 and 19 months, respectively; a High-Risk group of 29 patients characterized by high-risk indications; graft failure, rejection, postcardiotomy patient, postpartum cardiomyopathy, and valvular and congenital reoperation. In addition, the dilated and ischemic cardiomyopathy patients with a score over 6 were included in this group; and an Elective Indication group (51 patients) represented all of the dilated and ischemic cardiomyopathy patients with a score under 6. Due to the shortage of donors, our criteria for transplantation are very strict. Transplants should be made only in cases of hemodynamic stability, on an extubated patient with normal renal and liver functions, without coagulation problems or infection. With such criteria, in the high-risk group, only four patients could be transplanted and of these two are still alive. In contrast, in the elective group, 31 were transplanted (61%), and 71% of these patients were discharged. The rate is improved in the most recent cases, with 90% of the Cardiowest patients being survivors.

Acute Disease↗