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Biomedical subjects

I Henry

Publications and source records attributed to I Henry.

At least 55 records · Page 3Linked to original sources
PubMed1993

Reassessment of breakpoints in chromosome 11p15.

Specific tumor-associated rearrangements involving the regions 11p13 and 11p15 have been extensively documented. However, cytogenetic definition of the breakpoints occurring at the boundaries of these two regions was not precise enough to correlate with the molecular data. Using probes corresponding to the genes coding for MYOD1, CTSD, LDHA, and RBTN1 and to the anonymous sequence D11S776, we have reassessed the breakpoints of three hybrids (J1.10, BID7, and NYX3.1) and confirmed the localization or more precisely mapped these four genes and the anonymous DNA marker on different subregions of 11pter-->p13, including the smallest region of 11p15.5 duplicated in a patient with Beckwith-Wiedemann syndrome.

Animals↗
PubMed1993

Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event.

Genomic imprinting has been implicated in the aetiology of an overgrowth cancer-prone syndrome, the Wiedemann-Beck-with syndrome (WBS). We have demonstrated uniparental disomy (UPD) for paternal chromosome 11p markers in 5 out of 25 sporadic cases (20%). Delineation of the extent of the disomy region may help in understanding the mechanism and the stage, meiotic or mitotic, of disomy formation in this disease and in associated tumours. Our current studies in WBS patients with seventeen 11p and one 11q markers reveal paternal isodisomy, not heterodisomy, in the five cases. For one case we demonstrate unambiguously that partial isodisomy for 11p and somatic mosaicism for UPD resulted from a post-fertilization event. The restriction of isodisomy to part of 11p in another case, and somatic mosaicism for UPD in three other cases, suggest a mitotic recombinational event that must have occurred after fertilization. Mosaic phenotypes reflect the timing of their origin and the fate of the cells involved, as well as the cell-specific pattern of imprinting. Somatic mosaicism for UPD in four cases may thus explain the incomplete forms of WBS. The association of hemihypertrophy in sporadic WBS and even some cases of isolated hemihypertrophy. This is in agreement with a recent report of paternal isodisomy for 11p markers in a patient with hemihypertrophy, Wilms' tumour and adrenocortical carcinoma. Moreover, the risk of developing a tumour seems higher (50%) for patients with paternal 11p UPD than for WBS patients in general (7.5%).

Adult↗
PubMed1993

Percutaneous peripheral rotational ablation using the Rotablator: immediate and mid term results. Single center experience concerning 146 lesions treated.

In order to assess the role of percutaneous peripheral rotational ablation using Rotablator (PPRA), 95 symptomatic patients (58 M, 37 F, m. age: 77 +/- 1 y) (r: 50-90 y) having 146 peripheral vascular lesions (PVL) were treated by PPRA. 59% were below the knee and 41% above. The runoff status (n of distal leg art. involved) was as follows: 3:52 pts, 2:23 pts, 1:14 pts, 0:6 pts. The femoral lesions were significantly longer than those at other sites (5.27 +/- 0.43 vs 2.97 +/- 0.3 cm) (p < 0.001). The mean length was 3.73 +/- 0.26 cm (r: 1-20 cm). Complementary PTA was significantly (p < 0.001) more frequent in femoro-popliteal (32 PTA/48 Fem, 5 PTA/12 Pop) than in distal leg lesions (10/86.). RESULTS. After PPRA alone (99 PVL) the stenosis % decreased from 81 +/- 0.75 to 18 +/- 1.1. The residual stenosis was greater at femoral (26 +/- 2.3%) than at distal leg level (16 +/- 1.2%) (p < 0.01). Complementary PTA (47 PVL) lowered residual stenosis from 44% to 13%. 52 complications (spasm, perforation, dissection, distal emboli, no reflow, others) were cured in 47 PVL. Thus our primary technical success per PVL was 97% and per pt 95%. The mean follow-up period was 11 +/- 1 mths (r: 1-37 m). Among 78 pts having a follow-up period > or = 4 mths, 74 pts representing 115 treated PVL underwent an angiography control (2 deaths, 2 lost for follow-up). 87 lesions (76%) showed no restenosis and 28 lesions (34%) showed restenosis of 83 +/- 2.4% (r: 50-100%). The restenosis rate was higher in femoral (12/21: 36%) than in distal (15/58: 21%) or popliteal arteries (1/8: 12%). Restenosis was more frequent for PVL > or = 7 cm (67% vs 16%) (p < 0.001) at all sites. This result together with the complication rate would seem to indicate that lesions > or = 6.7 cm would be a limitation for PPRA. CONCLUSIONS. In our experience Percutaneous Peripheral Rotational Ablation has taken a pre-eminent position in the treatment of distal leg arteries. Our results lead us to broaden its indications to complex vascular lesions. The possibility of runoff treatment should allow an improvement in the long-term patency of PTA and bypass grafts.

Aged↗
PubMed1993

[Peripheral arterial angioplasty: value of the popliteal approach. Apropos of 30 cases].

The percutaneous common femoral arterial approach is usually used for endovascular management of lower limb arterial disease. This approach is sometimes impracticable because the femoral artery is the site of severe calcific atheromatous lesions which prevent arterial puncture or, when the superficial femoral lesions are ostial or proximal, make it impossible to position the introducer and advance the guide wire. The popliteal artery then becomes very useful for treating these lesions by a retrograde approach. Similarly, superficial femoral lesions which cannot be successfully dilated by the anterograde femoral approach may justify retrograde catheterisation via the popliteal artery. Between May 1988 and August 1991, the authors used the retrograde popliteal approach in 30 cases. They obtained 24 successes, 12 of which were associated with the implantation of an endoprosthesis. There was 1 complication at the puncture site a popliteal arteriovenous fistula was created but was treated successfully by surgery.

Adult↗
PubMed1992

Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females.

Beckwith-Wiedemann syndrome (BWS) is often associated with embryonal tumours (nephroblastoma, adrenocortical carcinoma, hepatoblastoma, and rhabdomyosarcoma). Several pedigrees have been reported strongly suggesting autosomal dominant inheritance and an excess of transmitting females was noticed in these families. We confirmed this excess using 19 published pedigrees and showed that this excess was for two reasons: first, reduced fecundity in affected males compared to females in a ratio of 1:4.6, and, second, a smaller risk of being affected in a ratio of 1:3 for subjects having inherited the gene from their father. These latter findings suggest genomic imprinting. Furthermore, considering these results together with other observations, such as the parental origin of the 15p15.5 duplication and the existence of uniparental disomy in some sporadic cases, we propose that overgrowth in BWS patients and malignant proliferation in associated tumours reflect an imbalance between paternal and maternal alleles.

Beckwith-Wiedemann Syndrome↗
PubMed1991

Uniparental paternal disomy in a genetic cancer-predisposing syndrome.

The 11p15.5 region of human chromosome 11 seems to contain a locus or loci involved in congenital overgrowth anomalies as well as in the genesis of many tumours associated with the Beckwith-Wiedemann syndrome (BWS). Given the unusual differential parental allele involvement in the different aetiological forms of BWS and the loss of maternal alleles in associated tumours, we have now used 11p15.5 markers to determine the parental origin of chromosome 11 in eight sporadic cases of BWS. Probands in three informative families had uniparental paternal disomy for region 11p15.5. Further, an overall greatly increased frequency of homozygosity for several 11p15.5 markers in 21 sporadic BWS patients suggests that isodisomy probably accounts for an even higher proportion of BWS sporadic cases. This demonstrates that uniparental paternal disomy can be associated with a genetic cancer-predisposing syndrome.

Beckwith-Wiedemann Syndrome↗
PubMed1991

[Antioncogenes: models for tumors in children].

The chromosomal assignment of genes responsible for malformation syndromes associated with increased susceptibility to malignancy could be determined owing to specific constitutional chromosomal abnormalities or to family studies. For certain types of tumors, somatic chromosomal rearrangements (loss of alleles) occur at the same locus indicating the presence of a recessive suppressor gene or an antioncogène. For other types of tumors chromosomal rearrangements involving regions different from the locus for predisposition suggest genetic heterogeneity and/or implication of genes for tumor progression. These genes which are also involved in development and regulation of differentiation and cell growth, may undergo a differential genomic imprinting.

Alleles↗
PubMed1990

The human MyoD1 (MYF3) gene maps on the short arm of chromosome 11 but is not associated with the WAGR locus or the region for the Beckwith-Wiedemann syndrome.

The human gene encoding the myogenic determination factor myf3 (mouse MyoD1) has been mapped to the short arm of chromosome 11. Analysis of several somatic cell hybrids containing various derivatives with deletions or translocations revealed that the human MyoD (MYF3) gene is not associated with the WAGR locus at chromosomal band 11p13 nor with the loss of the heterozygosity region at 11p15.5 related to the Beckwith-Wiedemann syndrome. Subregional mapping by in situ hybridization with an myf3 specific probe shows that the gene resides at the chromosomal band 11p14, possibly at 11p14.3.

Animals↗
PubMed1990

Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.

Loss of heterozygosity for 11p markers and preferential loss of maternal alleles have been described in Wilms tumor. In this report we describe the molecular characterization of the constitutional and somatic 11p rearrangements in a del(11p13) WAGR patient with Wilms tumor. Both rearrangements led to loss of maternal alleles for two different regions of 11p, namely, 11p13 and 11p14----p15. This result clearly suggests that Knudson's hypothesis of two hits at the same locus does not necessarily apply to Wilms tumor. Moreover, the loss of 11p15 maternal alleles in the tumor is not incompatible with maternal inheritance of predisposition at 11p13. The putative roles of these two loci are discussed.

Alleles↗
PubMed1989

Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.

To define more precisely, in molecular terms, the region involved in Beckwith-Wiedemann syndrome (BWS), we have studied patients with BWS and a constitutional duplication of 11p15 using eight 11p15 markers. In the first case with a de novo duplication and extra material on 11p, the region spanning pter to CALCA, excluded, was duplicated. In the second case, the rearrangement was characterized using somatic cell hybrids established with lymphocytes from the father who carried a balanced translocation t(11;18)(p15.4;p11.1). The breakpoint lay exactly in the same region. It could thus be inferred that the two sons, who were the first cases reported of BWS with dup11p15 and adrenocortical carcinoma (ADCC), carried a duplication similar to that observed in the first case. Together with evidence for specific somatic chromosomal events leading to loss of 11p15 alleles in familial cases of ADCC, it can be hypothesized that a gene involved in predisposition to ADCC maps to region 11p15.5.

Adrenal Cortex Neoplasms↗
PubMed1989

Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13. Subdivision of the WAGR complex region.

The short arm of chromosome 11 carries genes involved in malformation syndromes, including the aniridia/genitourinary abnormalities/mental retardation (WAGR) syndrome and the Beckwith-Wiedemann syndrome, both of which are associated with an increased risk of childhood malignancy. Evidence comes from constitutional chromosomal aberrations and from losses of heterozygosity, limited to tumor cells, involving regions 11p13 and 11p15. In order to map the genes involved more precisely, we have fused a mouse cell line with cell lines from patients with constitutional deletions or translocations. Characterization of somatic cell hybrids with 11p-specific DNA markers has allowed us to subdivide the short arm into 11 subregions, 7 of which belong to band 11p13. We have thus defined the smallest region of overlap for the Wilms' tumor locus bracketed by the closest proximal and distal breakpoints in two of these hybrids. The region associated with the Beckwith-Wiedemann syndrome spans the region flanked by two 11p15.5 markers, HRAS1 and HBB. These hybrids also represent useful tools for mapping new markers to this region of the human genome.

Antibodies, Monoclonal↗
PubMed1989

Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.

We have compared constitutional and tumor genotypes in nine cases of hereditary Wilms tumor (WT) and in three unrelated cases of familial adrenocortical carcinoma (ADCC). Since susceptibility to these tumors can be observed in malformation syndromes associated with a constitutional deletion of band 11p13 (WT) and with a constitutional duplication of band 11p15.5 (WT, ADCC), we investigated these two candidate regions by using 11p polymorphic markers. As expected, somatic chromosomal events, resulting in a loss of heterozygosity limited to region 11p15.5, were observed in the tumor of two familial cases of adrenocortical carcinoma. Surprisingly, however, analysis of the WT of two patients with a constitutional deletion of band 11p13, associated with aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome), revealed a loss of heterozygosity limited to region 11p15.5. These data therefore suggest that observation of a specific loss of heterozygosity may not necessarily point to the site of the initial germinal mutation. Together with previous similar observations of a loss of heterozygosity limited to 11p15.5 in breast cancer and in rhabdomyosarcoma, our data suggest that region 11p15.5 may carry a non-tissue-specific gene that could be involved in genetic predisposition, in tumor progression, or in both.

Adrenal Cortex Neoplasms↗
PubMed1989

Mitotic deletions of 11p15.5 in two different tumors indicate that the CALCA locus is distal to the PTH locus.

We have compared the constitutional and tumor genotypes in two patients with Wilms tumor and adrenocortical carcinoma. The allelic distribution of chromosome 11-specific markers spanning chromosome 11 from pter to qter (HRAS1-HBB-[CALCA/PTH]-FSHB-CAT-APOA1) and an approach combining RFLP analysis and gene copy number determination showed that a mitotic deletion had occurred in both tumors. The loss of one copy of the gene for alpha-calcitonin-gene-related polypeptide (CALCA), together with that of a more distal marker (HRAS1 or HBB), indicates that CALCA is distal to the gene for parathyroid hormone (PTH), which was not deleted in either tumor. These results suggest that mitotic deletion mapping may be as useful as meiotic deletion or recombination mapping in ordering closely linked markers, such as CALCA and PTH, for which other approaches, including physical mapping and multipoint linkage analysis, have failed to accurately identify the gene order.

Adrenal Cortex Neoplasms↗