Search PubMed⌕ Search

Biomedical subjects

E Lacombe

Publications and source records attributed to E Lacombe.

At least 19 recordsLinked to original sources
PubMed2005

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.

The phenotype of mosaic variegated aneuploidy (MVA) syndrome is characterized by severe microcephaly, growth deficiency, mental retardation, and mild physical anomalies. The MVA syndrome is associated with mosaicism for several different aneuploidies involving many different chromosomes with or without premature centromere division (PCD). To date 28 cases of MVA syndrome have been reported. We report the first case of MVA syndrome without microcephaly. The clinical features in our patient included craniofacial dysmorphic features, growth retardation, and developmental delay. Cytogenetics analyses and FISH studies showed multiple aneuploidy with trisomy 18, 19, and 8, respectively in blood lymphocyte and fibroblasts without PCD. This case is compared with the other of MVA syndrome previously reported in literature. From this case report, we suggest that microcephaly is not mandatory for the diagnosis of MVA syndrome.

Abnormalities, Multiple↗
PubMed2003

[Role of microbiopsy in diagnostic and therapeutic approach of mammary suspect microcalcification].

PURPOSE: To determine the sensibility, the specificity, the positive and negative predictive values of microcalcifications detection by core needle biopsy and intra-operative pathologic examination. MATERIALS AND METHODS: A hundred and one patients (between 1998 and 1999) were investigated in this retrospective study. The initial presentation was breast microcalcifications without palpable tumour. The mean age of patients was 55 (34-79) years. Mammography was performed in 3 standard projections. All suspect microcalcifications were recommended for surgical excision. In the others cases, 5 core biopsies were taken of the lesion. Needle guidance was accomplished by means of either dedicated stereotaxic device or ultrasound equipment. All biopsies were performed with a biopsy device fitted with 14 G needles. The mean follow-up period was 3 years. RESULTS: Clinical or surgical follow-up was available in 101 lesions. Only 4 benign lesions did not have surgery. The 97 remaining were subsequently excised. Pathologic study showed cancer in 38 (39%) lesions, carcinoma in-situ in 14 lesions, and benign disease in 45 lesions. There was 1 false-negative biopsy. The specificity and sensitivity of percutaneous biopsy diagnosis were 73,6 and 93,7% respectively. Intra-operative pathologic diagnoses were concordant in 77% of 30 cases. Discordance occurred in 2 cases of atypical hyperplasia with a single false-negative result for a carcinoma that led to an additional surgical procedure. Positive and negative predictive values of intra-operative pathologic diagnosis were 82 and 100% respectively. CONCLUSION: Needle biopsy findings are accurate and allow definitive therapeutic surgery, including mastectomy.

Adult↗
PubMed2001

Two cinnamoyl-CoA reductase (CCR) genes from Arabidopsis thaliana are differentially expressed during development and in response to infection with pathogenic bacteria.

Cinnamoyl-CoA reductase (CCR; EC 1.2.1.44) catalyses the conversion of cinnamoyl-CoAs into their corresponding cinnamaldehydes, i.e. the first step of the phenylpropanoid pathway specifically dedicated to the monolignol biosynthetic branch. In previous work, we described the isolation and characterisation of the first cDNA encoding CCR in Eucalyptus (Lacombe, E., Hawkins, S., Van Dorsselaere, J., Piquemal, J., Goffner, D., Poeydomenge, O., Boudet, A.M., Grima-Pettenati, J., 1997. Cinnamoyl CoA reductase, the first committed enzyme of the lignin branch biosynthetic pathway: cloning, expression and phylogenetic relationships. Plant Journal 11, 429--441) and shown the role of this enzyme in controlling the carbon flux into lignins (Piquemal, J., Lapierre, C., Myton, K., O'Connell, A., Schuch, W., Grima-Pettenati, J., Boudet, A.M., 1998. Down-regulation of cinnamoyl-CoA reductase induces significant changes of lignin profiles in transgenic tobacco plants. Plant Journal 13, 71--83). Here, we report the characterisation of two functionally and structurally distinct cDNA clones, AtCCR1 and AtCCR2 (81.6% protein sequence identity) in Arabidopsis thaliana. The two recombinant proteins expressed in Escherichia coli are able to use the three cinnamoyl-CoAs tested but with different levels of efficiency. AtCCR1 is five times more efficient with feruloyl-CoA and sinapoyl-CoA than AtCCR2. In addition, the two genes are differentially expressed during development and in response to infection. AtCCR1 is preferentially expressed in tissues undergoing lignification. In contrast, AtCCR2, which is poorly expressed during development, is strongly and transiently induced during the incompatible interaction with Xanthomonas campestris pv. campestris leading to a hypersensitive response. Altogether, these data suggest that AtCCR1 is involved in constitutive lignification whereas AtCCR2 is involved in the biosynthesis of phenolics whose accumulation may lead to resistance.

Aldehyde Oxidoreductases↗
PubMed2000

Characterization of cis-elements required for vascular expression of the cinnamoyl CoA reductase gene and for protein-DNA complex formation.

Cinnamoyl-CoA reductase (CCR) catalyses the first specific step in the biosynthesis of monolignols, the monomeric units of lignins. We examined the developmental regulation of the Eucalyptus gunnii EgCCR promoter by analysing the expression of EgCCR-GUS fusions in tobacco. EgCCR promoter activity was strongest in lignified organs (stems and roots) consistent with the EgCCR mRNA level in these organs. Histochemical analysis showed expression in vascular tissues (cambium, young differentiating xylem, ray cells, internal and external phloem) of stems and roots in agreement with in situ hybridization data. Promoter deletion analysis and gain-of-function experiments identified the sequences between positions -119 and -77 as necessary and sufficient for expression in vascular tissues of stems. Electrophoretic mobility-shift assays showed that this region is specifically recognized by nuclear proteins present in tobacco stems, giving rise to two retarded complexes, LMC1 and LMC2. Using overlapping EgCCR fragments and mutated oligonucleotides as competitors in gel-shift assays, two DNA-protein interaction sites were mapped. Finally, the role of protein-protein interactions in the formation of the LMC1 and LMC2 complexes was investigated using the detergent sodium deoxycholate, and protein fractionation onto a heparin Sepharose column.

Aldehyde Oxidoreductases↗
PubMed1999

[Severe acute pancreatitis. Clinical and therapeutic contribution of diagnostic imaging].

Ultrasonography and dynamic tomography are used in the study of acute pancreatitis, thus helping to interpret the diverse anatomophysiopathologic variables. We present 41 patients studied by ultrasonography, on admission and twenty-four hours later or more. After seventy-two hours, a dynamic tomography was performed. We did a clinicotomographic correlation assessing necrosis, and multiple Ranson criteria, being complemented with the anatomopathologic study of specimens both in the complications and in the elective biliary surgery. There were three puncture aspirates for bacteriology. Eight (19.5%) patients developed local complications and four (9.75%) presented organ failure. Ultrasonography showed biliopancreatic hypertension in 45% of cases of biliary pancreatitis and was reversible in nature. Dynamic tomography was important in defining morphology and pancreatic necrotic involvement. There were two patients with intrapancreatic necrosis, six with intra and extrapancreatic necrosis and eleven patients who presents a dissemination of the process into the extrapancreatic tissues. The prevalence of glandular necrosis was 24%. Both, ultrasonography and dynamic tomography allowed to the identify a spectrum of lesions representative of cavitated extrapancreatic necrosis and enzymatic pericholecystitis. Likewise, they contributed to define medical treatment as well as indications, opportunities and approaches in the surgical and/or percutaneous treatment of septic complications.

Acute Disease↗
PubMed1998

[Keratoprosthesis by posterior fixation and mechanical biocompatibility: determination of intraocular pressure provoking aqueous humor leak and/or extrusion].

The effect of a sudden increase in intraocular pressure (IOP) on Eye Bank eyes implanted with a posterior fixation keratoprosthesis PCL5 type (Lacombe) is evaluated. The IOP was artificially increased at a rate close to that observed in direct eye trauma. The critical pressure values causing aqueous humor leak and/or keratoprosthesis extrusion were compared to those found to blow up unoperated eyes. No statistical difference was found between operated and control eyes (6 pairs of eyes). This KPro type showed its efficacy for keratoprosthesis fixation.

Aqueous Humor↗
PubMed1997

Cinnamoyl CoA reductase, the first committed enzyme of the lignin branch biosynthetic pathway: cloning, expression and phylogenetic relationships.

Cinnamoyl CoA:NADP oxidoreductase (CCR, EC 1.2.1.44) catalyzes the conversion of cinnamoyl CoA esters to their corresponding cinnamaldehydes, i.e. the first specific step in the synthesis of the lignin monomers. The cloning of a cDNA encoding CCR in Eucalyptus gunnii (EUCCR) is reported here. The identity of the EUCCR cDNA was demonstrated by comparison with peptide sequence data from purified CCR and functional expression of the recombinant enzyme in Escherichia coli. Sequence analysis revealed remarkable homologies with dihydroflavonol-4-reductase (DFR), the first enzyme of the anthocyanin biosynthetic pathway. Moreover, significant similarities were found with mammalian 3 beta-hydroxysteroid dehydrogenase and bacterial UDP-galactose-4-epimerase, suggesting that CCR shared a common ancestor with these enzymes and can therefore be considered as a new member of the mammalian 3 beta-hydroxysteroid dehydrogenase/ plant dihydroflavonol reductase superfamily. In Eucalyptus gunnii, CCR is encoded by one gene containing four introns whose positions are similar to those of introns I, II, III and V in DFR genes from dicots. In agreement with the involvement of CCR in lignification, the CCR transcript was shown to be expressed in lignified organs, i.e. root and stem tissues, and was localized mainly in young differentiating xylem. On the other hand, its abundance in Eucalyptus leaves suggests that monolignols may be precursors of end products other than lignins. This first characterization of a gene corresponding to CCR opens new possibilities to genetically engineer plants with lower lignin content. This is particularly important for woody plants such as Eucalyptus which are used for pulp making.

Aldehyde Oxidoreductases↗
PubMed1993

Disparity of Borrelia burgdorferi infection rates of adult Ixodes dammini on deer and vegetation.

Rates of infection with Borrelia burgdorferi were compared in adult Ixodes dammini ticks collected from deer at one coastal and two island sites with those collected from vegetation at the same sites. Ticks were examined using polyclonal direct fluorescent antibody. Spirochetes were observed in 47% of 288 ticks from vegetation as opposed to 13% of 276 ticks from deer (chi 2, P < .001). This disparity was increased when only male ticks were compared. Among female ticks from deer, the infection rate was higher in flat than in engorged ticks. These findings may reflect spirochete loss from ingestion of borreliacidal antibodies in deer blood or may result from factors related to the sensitivity of direct fluorescent antibody methods. They indicate that erroneously low estimates of regional risk for Lyme disease may be obtained if ticks removed from deer are included in the determination of tick infection rates.

Animals↗
PubMed1993

[Results of 30 keratoprostheses with retrocorneal fixation].

Keratoprosthesis is the last solution for corneally blind patients who cannot benefit from corneal grafts. The indications are limited to blind patients with monophthalmia and bilateral problems that are otherwise untreatable. After implanting the Choyce and Strampelli's devices for more than 10 years, we abandoned these anterior fixation techniques and now use a keratoprosthesis in which the sole mechanical fixation consists of a posterior support which is subsequently sealed by the fibrosis produced by the endothelial-Descement tissues. This new prosthesis is made of two pieces, an optic and an haptic fashioned out of CQ-PMMA. To minimize expulsion, the haptic outer diameter is greater than the central corneal orifice through which the optic is inserted and screwed into the haptic. The keratoprosthesis refractive power can be easily adjusted after lensectomy by changing the 40 D for a 63 D optic. The prosthesis is implanted in a single step surgical procedure, and can be implanted in phakic eyes while respecting the physiology and anatomy of these fragile eyes. This single step procedure reduces the usual repeated operations required when using, other techniques. We operated 12 cases of pseudopemphigus, 9 cases of burns, 7 cases of trachoma, and 2 cases of pseudophakic oedema with good cosmetic and visual results with a follow-up ranging from several months to more than 3 years. The results obtained with this new keratoprosthesis are encouraging. The results have been analysed and classified into: anatomic and functional success 20 cases, anatomic success and functional failures 4 cases, anatomic failures 6 cases.

Adult↗
PubMed1991

[Posterior fixation keratoprosthesis].

Keratoprosthesis is the last solution available to the corneal blind patient unsuitable for corneal graft. Keratoprosthesis by anterior fixation requires repeated operations and results are therefore variable. The concept of keratoprosthesis by posterior fixation is presented. This theoretically reduces the risk of expulsion. Only one operation is required and this reduces complications. Initial results, described here, are encouraging.

Cornea↗
PubMed1986

[Corneal dysplasia].

Corneal dysplasia has been recently reported. Clinically, it is characterized by a progressive epithelial corneal opacity with pearly or greyish white coloration. Its topography may be either next to either far from the limbus. The recurrences are frequent after surgical treatment. Histologically, many aspects are described. Morphological changes affecting the cells and/or the architecture of the modified epithelium, may vary from light dysplasia to true carcinoma in situ. Some peculiar clinical conditions may coexist with corneal dysplasia, which may also be isolated. Three clinical cases are reported, with detailed pathological data. The signification of the use of the term "dysplasia" and the histogenesis are discussed, and the conclusions for treatment are drawn.

Carcinoma in Situ↗
PubMed1986

[Results of the surgical treatment of pterygium apropos of 102 cases].

After reviewing the anatomical, pathological and clinical features of pterygium, the authors describe the various surgical techniques. Simple resection, resection combined with oral and mucous membrane or conjunctival graft, derivation autoplasty, central or peripheral lamellar keratoplasty. 102 cases are presented, operated by the various techniques. A statistical study of successes and recurrences, considering the evolution stages and the follow up, is presented. Operative indications are outlined: simple resection in very wild cases, conjunctival autoplasty in intermediate cases, actually the most frequent, lamellar keratoplasty, in so called "malignant" pterygium or recurrent pterygium.

Conjunctiva↗
PubMed1980

[Marginal pellucid degeneration of the cornea, or marginal keratoconus (author's transl)].

Histological and ultrastructural examination of the corneas of a woman presenting with marginal pellucid degeneration, treated by bilateral perforating keratoplasty, revealed obvious analogies with keratoconus. The condition of marginal pellucid degeneration is really only an excentric keratoconus. Marginal pellucid degeneration is a rare affection but it has been clinically sell defined. Many authors seem to have recognized it under various different names (cylindrical keratoconus, corneal protusion, piriform cornea). It is a pouch-shaped deformity of the cornea overlying a thinning of the linear stroma concentric to the limbus, always inferior and bilateral, perfectly transparent, non-vascularized, and without signs of corneal of conjunctival inflammation. The affection usually occurs in young adults.

Adult↗