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See detailNonmyeloablative stem cell transplantation with CD8-depleted or CD34-selected peripheral blood stem cells.
Baron, Frédéric ULg; Baudoux, Etienne ULg; Frere, Pascale ULg et al

in Journal of Hematotherapy & Stem Cell Research (2002), 11(2), 301-14

To decrease the incidence of graft-versus-host disease (GVHD) observed after nonmyeloablative stem cell transplantation (NMSCT), we studied the feasibility of CD8-depleted or CD34-selected NMSCT followed ... [more ▼]

To decrease the incidence of graft-versus-host disease (GVHD) observed after nonmyeloablative stem cell transplantation (NMSCT), we studied the feasibility of CD8-depleted or CD34-selected NMSCT followed by CD8-depleted preemptive donor lymphocyte infusion (DLI) given in incremental doses on days 40 and 80. Fourteen patients with high-risk malignancies and an HLA-identical sibling (n = 8) or alternative donor (n = 6) but ineligible for a conventional transplant were included. Nonmyeloablative conditioning regimen consisted in 2 Gy total body irradiation (TBI) alone, 2 Gy TBI and fludarabine (previously untreated patients) or cyclophosphamide and fludarabine (patients who had previously received > or =12 Gy TBI). Patients 1-4 (controls) received unmanipulated peripheral blood stem cells (PBSC) and DLI and patients 5-14 CD8-depleted or CD34-selected PBSC followed by CD8-depleted DLI. Post-transplant immunosuppression was carried out with cyclosporine A (CsA) and mycophenolate mofetil (MMF). Initial engraftment was seen in all patients, but 1 patient (7%) later rejected her graft. The actuarial 180-day incidence of grades II-IV acute GVHD was 75% for patients 1-4 versus 0% for patients 5-14 (p = 0.0019). Five of 14 patients were in complete remission (CR) 180 days after the transplant and 6/14 had partial responses. The 1-year survival rate was 69%, and nonrelapse and relapse mortality rates were 16 and 18%, respectively. We conclude that CD8-depleted or CD34-selected NMSCT followed by CD8-depleted DLI is feasible and considerably decreases the incidence of acute GVHD while preserving engraftment and apparently also the graft-versus-leukemia (GVL) effect. Further studies are needed to confirm this encouraging preliminary report. [less ▲]

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See detailTranslocation (16;17)(Q22;P13) Is a Recurrent Anomaly of Aneurysmal Bone Cysts
Herens, Christian ULg; Thiry, Anne-Marie ULg; Dresse, M. F. et al

in Cancer Genetics & Cytogenetics (2001), 127(1), 83-4

Recently, Panoutsakopoulos et al. (1999) reported 2 cases of aneurysmal bone cysts with a recurrent (16;17)(q22;p13) translocation. We present here two additional cases harboring the same translocation as ... [more ▼]

Recently, Panoutsakopoulos et al. (1999) reported 2 cases of aneurysmal bone cysts with a recurrent (16;17)(q22;p13) translocation. We present here two additional cases harboring the same translocation as well as additional chromosomal changes. [less ▲]

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See detailMajor Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test?
Verloes, Alain ULg; Gillerot, Y.; Van Maldergem, Lionel ULg et al

in European Journal of Human Genetics (2001), 9(1), 1-4

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not ... [more ▼]

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not regulated and can be freely performed by any biomedical lab, making epidemiological data unavailable. By contrast, cytogenetic investigations are limited to a few genetic centres, and accurate statistics can be easily built from their files. During the period 1984-1989, a total of 244 trisomy 21 (1/876 pregnancies) were diagnosed in the Genetic Centres of Liege and Loverval, 42 (17%) of them prenatally. During the period 1993-1998, 294 trisomy 21 (1/704 pregnancies) were observed, 165 (56%) of which prenatally, and more than 90% of affected pregnancies were terminated. Even after correction for late foetal loss of trisomic foetuses, the difference is highly significant, and corresponds to a theoretical shift in the incidence of trisomy 21 at birth from 1/794 to 1/1606. As no remarkable progress occurred in other non-invasive prenatal screening procedures or general health care policies in Belgium, the most reasonable explanation is the use on a large scale of triple test by pregnant women, and the election of termination for most affected pregnancies. [less ▲]

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See detailEpisphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens
Verloes, Alain ULg; JAMAR, Mauricette ULg; Dideberg, Vinciane ULg et al

in Annales de Génétique (2001), 44(2, Apr-Jun), 59-62

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia ... [more ▼]

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia. Cytogenetic workup revealed high spontaneous level of chromosomal aberrations (without specific pattern and no quadriradial figures) and borderline to absent hypersensitivity to mitomycin C, making a diagnosis of Fanconi anemia unlikely. The child described here shares similarities with a small number of previous reports. We suggest to refer to this entity as episphalosomic syndrome. Episphalosomic syndrome shows some clinical overlap with Fanconi anemia, but lacks its cytogenetic hallmark. The hematological complications of Fanconi anemia have not been reported in this entity. [less ▲]

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See detailInv(12)(Q15q24): A Nonrandom Change Associated with Myelodysplasia?
Scantamburlo, Gabrielle ULg; Lampertz, serge; Jamar, Michelle ULg et al

in Cancer Genetics & Cytogenetics (2000), 121(2), 206-7

A patient with refractory anemia and a paracentric inversion of chromosome 12, inv(12)(q15q24), is described. This is the second reported case with this chromosome anomaly, suggesting that this ... [more ▼]

A patient with refractory anemia and a paracentric inversion of chromosome 12, inv(12)(q15q24), is described. This is the second reported case with this chromosome anomaly, suggesting that this rearrangement is a rare but nonrandom change associated with myelodysplastic syndromes. [less ▲]

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See detailDeletion of the 5'-ABL region: a recurrent anomaly detected by fluorescence in situ hybridization in about 10% of Philadelphia-positive chronic myeloid leukaemia patients.
Herens, Christian ULg; Tassin, Françoise ULg; Lemaire, Véronique ULg et al

in British Journal of Haematology (2000), 110(1), 214-6

Inclusion of the BCR-ABL ES probe in routine cytogenetics led to the identification of a subgroup of Philadelphia positive (Ph+) chronic myeloid leukaemia patients characterized by a 5'-ABL deletion. This ... [more ▼]

Inclusion of the BCR-ABL ES probe in routine cytogenetics led to the identification of a subgroup of Philadelphia positive (Ph+) chronic myeloid leukaemia patients characterized by a 5'-ABL deletion. This anomaly was observed in 5/51 cases (9.8%). Cytological and clinical data suggest that the 5'-ABL deletion may be associated with dysplastic features of polymorphonuclear cells and metamyelocytes and a short chronic phase duration. [less ▲]

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See detailA four-parameter index of marrow dysplasia has predictive value for survival in myelodysplastic syndromes.
Tassin, Françoise ULg; Dewé, Walthère ULg; Schaaf, Nicole ULg et al

in Leukemia & Lymphoma (2000), 36(5-6), 485-96

Marrow dysplasia is a major characteristic of patients with myelodysplastic syndrome (MDS), along with marrow blastosis, cytopenia and cytogenetic anomalies. However, the impact of the degree of marrow ... [more ▼]

Marrow dysplasia is a major characteristic of patients with myelodysplastic syndrome (MDS), along with marrow blastosis, cytopenia and cytogenetic anomalies. However, the impact of the degree of marrow dysplasia on survival has not been fully assessed. In this retrospective analysis of 111 patients selected according to the IPSS criteria of MDS diagnosis, the presence or absence of 21 dysplasia characteristics recognizable in bone marrow smears stained by the May-Grunwald-Giemsa method was correlated with patient survival. Using Cox proportional hazards regression analysis, megaloblastosis (MEGALO), neutrophil agranularity (AGRAN) and hypogranularity (HYPOGRAN) were highly significant predictors (p < 0.005), and Pelger-Huet anomaly (PELGHUET) a significant predictor (p = 0.05), of patient survival. The regression analysis yielded a dysplasia-based risk index (DI) where DI = 1.26 MEGALO + 0.82 AGRAN - 1.08 HYPOGRAN + 0.45 PELGHUET. The two subgroups of 60 and 47 patients with DI < or = 0 and > 0 showed highly significant differences in median survivals (2.6 vs 1.1 yrs; p <0.0001). Multivariate analysis further showed that DI offered additional predictive power that was independent of that provided by the IPSS (p=0.002 and 0.001 respectively). Analysis of survival curves stratified for IPSS and DI showed that the additional predictive power offered by inclusion of the DI essentially concerned the IPSS low/INT-1 risk categories. Further stratification for age did not improve survival prediction. The data indicate that a set of 4 dysplasia parameters can offer some prediction for survival of MDS patients in addition to that provided by the IPSS. Further multicenter studies should aim at including some form of evaluation of the degree of dysplasia in prognostic systems. [less ▲]

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See detailLoss of the Y Chromosome in Bone Marrow Cells: Results on 1907 Consecutive Cases of Leukaemia and Preleukaemia
Herens, Christian ULg; Brasseur, Edmond ULg; Jamar, Michelle ULg et al

in Clinical & Laboratory Haematology (1999), 21(1), 17-20

Loss of the Y chromosome with a resulting 45, X0 karyotype is observed in normal bone marrow cells of elderly males but also in haematological malignancies. Whether Y loss in neoplastic cells is related ... [more ▼]

Loss of the Y chromosome with a resulting 45, X0 karyotype is observed in normal bone marrow cells of elderly males but also in haematological malignancies. Whether Y loss in neoplastic cells is related to the process seen in normal ageing or is part of the carcinogenic process is unknown. The present study concerns the cytogenetic data from 1907 consecutive leukaemic or preleukaemic male patients with special regard to the presence or absence of the Y chromosome. Sixty-five patients (3.4%) had a 45, X-Y clone in their bone marrow (BM) cells. Loss of Y was rare below the age of 50 but increased in older patients, reaching 25% of the men over 80. Sixteen patients (0.08%) had more than 90% X0 cells in their BM. A correlation between Y loss and leukaemia could be established in seven cases, three of which were acute myeloid leukaemia M2 subtype where -Y is known to be a secondary event. In three other cases, -Y was part of a complex karyotype. Only one patient exhibited a 45, X0 karyotype, with no other rearrangement, that could be positively correlated with the neoplastic process. [less ▲]

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See detailTranslocation (2;3)(p21;q26) as the sole anomaly in a case of primary myelofibrosis.
Herens, Christian ULg; Hermanne, Jean-Philippe; Tassin, Françoise ULg et al

in Cancer Genetics & Cytogenetics (1999), 110(1), 62-4

Translocation t(2p;3q) is a rare but recurrent finding in myeloid disorders. We present the first case of primary myelofibrosis with t(2;3)(p21;q26) as the sole chromosomal anomaly. The comparison with ... [more ▼]

Translocation t(2p;3q) is a rare but recurrent finding in myeloid disorders. We present the first case of primary myelofibrosis with t(2;3)(p21;q26) as the sole chromosomal anomaly. The comparison with the 11 other previously published myeloid-associated t(2p;3q) cases confirms that this nonrandom translocation involves a pluripotent stem cell and is associated with a poor prognosis. [less ▲]

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See detailJuvenile Rheumatoid Arthritis and Del(22q11) Syndrome: A Non-Random Association
Verloes, Alain ULg; Curry, C.; Jamar, Michelle ULg et al

in Journal of Medical Genetics (1998), 35(11), 943-7

Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may ... [more ▼]

Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may be associated with unusual but probably causally related anomalies that expand its phenotype and complicate its recognition. We report here three children with the deletion and a chronic, erosive polyarthritis resembling idiopathic cases of juvenile rheumatoid arthritis (JRA). Patient 1, born in 1983, initially presented with developmental delay, facial dysmorphism, velopharyngeal insufficiency, and severe gastro-oesophageal reflux requiring G tube feeding. From the age of 3 years, he developed JRA, which resulted in severe restrictive joint disease, osteopenia, and platyspondyly. Patient 2, born in 1976, had tetralogy of Fallot and peripheral pulmonary artery stenosis. She developed slowly, had mild dysmorphic facial features, an abnormal voice, and borderline intelligence. JRA was diagnosed at the age of 5 years. The disorder followed a subacute course, with relatively mild inflammatory phenomena, but an extremely severe skeletal involvement with major osteopenia, restrictive joint disease (bilateral hip replacement), and almost complete osteolysis of the carpal and tarsal bones with phalangeal synostoses, leading to major motor impairment and confinement to a wheelchair. Patient 3, born in 1990, has VSD, right embryo-toxon, bifid uvula, and facial dysmorphism. She developed JRA at the age of 1 year. She is not mentally retarded but has major speech delay secondary to congenital deafness inherited from her mother. In the three patients, a del(22q11) was shown by FISH analysis. These observations, and five other recently published cases, indicate that a JRA-like syndrome is a component of the del(22q11) spectrum. The deletion may be overlooked in those children with severe, chronic inflammatory disorder. [less ▲]

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See detailLes syndromes myélodysplasiques: syndromes préleucémiques
Tassin, Françoise ULg; Hermanne, Jean-Philippe; Schaaf-Lafontaine, Nicole ULg et al

in Revue Médicale de Liège (1998), 53(6), 357-62

The myelodysplastic syndromes (MDS) are a heterogeneous group of disorders characterized by peripheral blood cytopenias with a hypercellular bone marrow exhibiting dyspoiesis. The predominant in elderly ... [more ▼]

The myelodysplastic syndromes (MDS) are a heterogeneous group of disorders characterized by peripheral blood cytopenias with a hypercellular bone marrow exhibiting dyspoiesis. The predominant in elderly patients are associated with a high risk of progression to acute myelogenous leukemia. The etiology of MDS is unknown in most cases. About 10% of MDSs are secondary. MDS are classified by the French American British (FAB) classification into five subgroups. The incidence of the disorders is difficult to estimate but it seems to be increasing. Clonal cytogenetic aberrations are found in 30 to 50% of de novo MDS. The only currative treatment for MDS is allogeneic bone marrow transplantation. [less ▲]

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See detailPrivate Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Translocations: T(2q;4p) Explains the Lambotte Syndrome
Herens, Christian ULg; Jamar, Mauricette ULg; Alvarez Gonzalez, Maria-Luz ULg et al

in American Journal of Medical Genetics (1997), 73(2), 127-31

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating ... [more ▼]

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques. [less ▲]

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See detailGenetic Risk in Natural and Medically Assisted Procreation
Koulischer, Lucien ULg; Verloes, Alain ULg; Lesenfants, S. et al

in Early Pregnancy (1997), 3(3), 164-71

Current in vitro fertilization techniques (IVF) including intracytoplasmic sperm injection (ICSI), microepididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) clearly prevent any ... [more ▼]

Current in vitro fertilization techniques (IVF) including intracytoplasmic sperm injection (ICSI), microepididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) clearly prevent any spontaneous choice of ova or spermatozoa. According to the widely admitted concept of gamete selection, pregnancies following IVF, when compared to natural fertilization, could therefore present a higher risk of genetic anomalies. However, no increased fetal or newborn abnormalities are noticed with IVF, except perhaps for sex chromosome aneuploidies. Data from the literature support the view that the uterus is, indeed, the organ where selection mechanisms occur (when they do so), as suggested by Carr in 1971. This selection concerns mainly autosome imbalances; unbalanced conceptuses are aborted. Sex chromosome aneuploidies, apparently, are less prone to natural abortion, but their higher rate of occurrence, as reported in a few series of studies, does not seem to be associated with the IVF procedures. [less ▲]

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See detailNuclear Lesions During Rat Hepatocarcinogenesis. I. Measuring the Sister-Chromatid Exchanges During Initiation, Promotion and Progression of Rat Hepatocarcinogenesis Induced with Diethylnitrosamine
Herens, Christian ULg; Jacquemart, M.; Koulischer, Lucien ULg et al

in Mutation Research : Fundamental & Molecular Mechanisms of Mutagenesis (1995), 329(2), 153-9

Cytogenetic endpoints such as sister-chromatid exchanges (SCEs), chromosomal aberrations and micronuclei (MNs) have been widely used as indicators of genetic damage. However, no systematic attempts have ... [more ▼]

Cytogenetic endpoints such as sister-chromatid exchanges (SCEs), chromosomal aberrations and micronuclei (MNs) have been widely used as indicators of genetic damage. However, no systematic attempts have been made to correlate the levels of these cytogenetic endpoints with the different steps of carcinogenesis. In the present report, the induction, accumulation and persistence of SCEs and high frequency cells (HFCs) were measured in liver cells during the initiation, promotion and progression steps of rat hepatocarcinogenesis induced by diethylnitrosamine (DEN). The results indicate that lesions leading to SCEs accumulate during initiation only. When DEN administration is longer than the duration of this first step, SCE values stabilize. After stopping the carcinogenic treatment, the SCE levels decrease to control values whether or not promotion and progression occur. [less ▲]

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See detailNuclear Lesions During Rat Hepatocarcinogenesis. II. Measuring the Micronuclei During Initiation, Promotion and Progression of Rat Hepatocarcinogenesis Induced with Diethylnitrosamine
Herens, Christian ULg; Massart, Sandrina ULg; Bouzahzah, B. et al

in Mutation Research : Fundamental & Molecular Mechanisms of Mutagenesis (1995), 329(2), 161-71

We reported in our companion paper the strong correlation between elevated sister-chromatid exchange (SCE) frequencies and the initiation step of rat hepatocarcinogenesis. We have also shown that SCEs ... [more ▼]

We reported in our companion paper the strong correlation between elevated sister-chromatid exchange (SCE) frequencies and the initiation step of rat hepatocarcinogenesis. We have also shown that SCEs return to normal values during the promotion and the progression stages. In the present study, we evaluated the clastogenic activity of diethylnitrosamine (DEN) during initiation, promotion and progression of rat hepatocarcinogenesis. We measured, at various times after DEN administration, the number of micronuclei (MN) produced by the mitotic response to partial hepatectomy. The results established that the DEN treatment induces a great number of preclastogenic lesions. In subcarcinogenic conditions (initiation alone), the number of MN expressed after partial hepatectomy remains high regardless of the time interval between the end of the DEN treatment and the operation. In this condition, the preclastogenic lesions persist for up to 1 year after the DEN administration is discontinued. Conversely, in carcinogenic conditions (initiation + promotion + progression), the number of MN expressed after partial hepatectomy decreases during the promotion and progression stages. These observations indicate that promotion and progression but not initiation are associated with the expression of persistent preclastogenic lesions, resulting in the production of chromosomally abnormal hepatocytes. [less ▲]

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See detailA Prenatal Trisomy 21 Screening Program Using Alpha-Fetoprotein, Human Chorionic Gonadotropin, and Free Estriol Assays on Maternal Dried Blood
Verloes, Alain ULg; Schoos, Roland ULg; Herens, Christian ULg et al

in American Journal of Obstetrics and Gynecology (1995), 172(1, Pt 1), 167-74

OBJECTIVE: The feasibility of large-scale Down syndrome maternal screening with dried blood samples and nonradioactive methods was examined. STUDY DESIGN: A prospective observation study was performed on ... [more ▼]

OBJECTIVE: The feasibility of large-scale Down syndrome maternal screening with dried blood samples and nonradioactive methods was examined. STUDY DESIGN: A prospective observation study was performed on a nonselected population of 11,241 pregnant women sampled between January 1991 and September 1992, between 14 and 24 weeks' gestation (ultrasonographic scanning available for 91.6%), through a multicenter collaborative network. Enzyme-linked immunosorbent assays for alpha-fetoprotein, human chorionic gonadotropin, and free estriol were performed on dried blood samples. Risk determination was made with an in-house software implementing the multivariate gaussian log likelihood method. RESULTS: A total of 10,450 samples were eligible for the study. Mean age at term was 27.9 years. A total of 6.84% of the patients were > or = 35 years old with a prior risk of trisomy 21 > 1:350. The general positive rate of our sample was 8.15%. After calculation 31.7% with prior risk > 1:350 were still in the high-risk group; 6.36% of the low-risk group were found to be at high risk for Down syndrome. Fifteen trisomic pregnancies were observed, of which 11 had a calculated risk higher than the selected cutoff value (1:350). The overall detection rate was 73%, specificity was 92%, and positive predictive power was 1.2%. CONCLUSION: Our pilot study has shown performances within the range of conventional serum screening programs. Dried blood assays are a handy alternative to serum assays. Blot paper cards represent a simple method of sampling, well fitted for large population screening. Combined with nonradioactive methods, this method appears to be both low cost and effective. The current work apparently is the first large-scale Down screening program performed with dried blood. [less ▲]

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See detailImportance of Cell Kinetics Rhythmicity for the Control of Cell Proliferation and Carcinogenesis in Rat Liver (Review)
Barbason, Hervé ULg; Herens, Christian ULg; Robaye, B. et al

in In Vivo (Athens, Greece) (1995), 9(6, Nov-Dec), 539-48

The circadian control of cell Proliferation and Differentiation has been studied principally in rat liver. The comparison between the differentiation by hepatic enzymes and the division by the cell cycle ... [more ▼]

The circadian control of cell Proliferation and Differentiation has been studied principally in rat liver. The comparison between the differentiation by hepatic enzymes and the division by the cell cycle under various experimental conditions (postnatal maturation, regeneration after partial hepatectomy, adrenalectomy, corticosterone treatments etc.) leads to the following conclusions: Under physiological conditions, proliferation and differentiation activities present a mutually exclusive relationship with a specific circadian rhythm. For both functions, the circadian variation of corticosterone plays the role of synchronizer, each evening (peak) it induces the synthesis of tissue specific enzymes in G0 cells and simultaneously inhibits the DNA synthesis in cycling cells. The same parameters have been studied during the different stages of hepatocarcinogenesis induced by Diethylnitrosamine (DEN). After initiation alone, (DEN for 2 weeks) circadian control is unchanged and precancerous cells are not able to reach malignancy. Promotion (DEN for 6 weeks) consists of disturbing the circadian synchronization to liberate the selective growth of initiated precancerous cells. This proliferation advantage favours the accumulation of chromosomal aberrations including those implicated in malignant transformation: i.e. activation of oncogenes or inhibition of antioncogenes. [less ▲]

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See detailMonosomy 11q: Report of Two Familial Cases and Review of the Literature
Hustinx, Roland ULg; Verloes, Alain ULg; Grattagliano, B. et al

in American Journal of Medical Genetics (1993), 47(3), 312-7

We present four children from two families with the typical 11q- phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23 ... [more ▼]

We present four children from two families with the typical 11q- phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23.3) constitution. The father of the three other children had a 46,XY,t(11;17)(q23;p13) translocation. Despite associated partial deletion, three of the children had a typical 11q- phenotype. The fourth one, whose pregnancy was terminated in the second trimester, had a hypoplastic left heart but no other considered gross anomalies. A review of 36 previous cases, including 5 due to translocations (4 familial rearrangements, and 1 of unknown origin) is given with emphasis on the relationships between break-points and phenotype. Undescribed manifestations in our patients include agenesis of corpus callosum adactyly and malrotation of the gut. [less ▲]

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See detailCytogenetic Changes in Hepatocarcinomas from Rats Treated with Chronic Exposure to Diethylnitrosamine
Herens, Christian ULg; Alvarez Gonzalez, Maria-Luz ULg; Barbason, Hervé ULg

in Cancer Genetics & Cytogenetics (1992), 60(1), 45-52

Cytogenetic analysis of rat hepatocarcinomas obtained after diethylnitrosamine (DEN) exposure showed a wide variety of numerical and structural chromosomal changes: 53 of 86 hepatocellular carcinomas ... [more ▼]

Cytogenetic analysis of rat hepatocarcinomas obtained after diethylnitrosamine (DEN) exposure showed a wide variety of numerical and structural chromosomal changes: 53 of 86 hepatocellular carcinomas showed at least one recurrent chromosomal aberration. Some of these recurrent changes occurred in several tumors. Chromosomes 1, 3, 11, and 12 were abnormal in more than 30% of the carcinomas; chromosomes 2, 4, 5, and 10 were abnormal in 10%. Moreover, chromosomes 1 and 10 were generally lost or deleted and chromosome 3, 4, and 11 were very often gained. The most frequent anomaly was loss of chromosome 1 which was observed in 35% of the tetraploid cell populations. The occurrence in several tumors of recurrent chromosomal rearrangements as well as various repeated aneuploidies strongly suggests that these anomalies are implicated in the process of rat hepatocarcinogenesis induced by DEN treatment. [less ▲]

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See detailCombined 10pter-->P11 and 18pter-->Q11 Trisomy in a 7-Year-Old Child
Lapiere, J. C.; Verloes, Alain ULg; Herens, Christian ULg et al

in Genetic Counseling (Geneva, Switzerland) (1992), 3(3), 155-9

We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of ... [more ▼]

We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of trisomy 18q- from the literature. The short trisomic segment 10pter-10p11 appears to affect more the phenotype than the trisomic segment 18qter-q11. [less ▲]

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