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1.
Arch. Soc. Esp. Oftalmol ; 94(11): 566-570, nov. 2019. ilus
Article de Espagnol | IBECS | ID: ibc-187415

RÉSUMÉ

El 25% de las metástasis de la órbita suelen ser de origen primario desconocido y requieren confirmación histopatológica e inmunohistoquímica. La toma de biopsia con aspiración con aguja fina de la órbita es un procedimiento alternativo a la orbitotomía convencional. Describimos el caso de una mujer de 60 años que presenta una masa tumoral en la órbita derecha y lesiones neoformativas en el cerebro y el cráneo. Incidentalmente, la paciente presentó un trombo en la aurícula izquierda, por lo que se desestimó la orbitotomía y se realizó la biopsia con aspiración con aguja fina de la órbita guiada por ultrasonido con evaluación rápida in situ de las muestras obtenidas. Se encontraron células malignas de adenocarcinoma pulmonar confirmadas con inmunohistoquímica e imágenes diagnósticas del tórax. En conclusión, las muestras obtenidas por biopsia con aspiración con aguja fina de la órbita, junto con el análisis citopatológico e inmunohistológico, permitieron identificar la metástasis orbitaria en el caso mencionado, siendo este procedimiento una alternativa segura, efectiva y mínimamente invasiva


Twenty five percent of orbital metastasis is usually of unknown primary origin and it requires histopathological and immunohistochemical confirmation. The fine-needle aspiration biopsy of the orbit is an alternative procedure to conventional orbitotomy. The case is presented of a 60 year-old woman with a right orbit tumour mass and neoplastic lesions in her brain and cranium. As an incidental finding, she had a thrombus in her left atrium, and so an orbitotomy procedure was ruled out. An ultrasound-guided fine-needle aspiration biopsy was performed instead with rapid on-site evaluation of biopsy samples. These showed malignant cells of a lung adenocarcinoma, which was confirmed with immunohistochemistry and chest diagnostic images. In conclusion, biopsy samples obtained by fine-needle aspiration biopsy, together with cytopathological and immunohistological analysis, enabled orbital metastasis to be identified in the case described, and showed that fine-needle aspiration biopsy is a safe, effective, and minimally invasive alternative


Sujet(s)
Humains , Femelle , Adulte d'âge moyen , Adénocarcinome/secondaire , Cytoponction sous échoendoscopie , Tumeurs du poumon/anatomopathologie , Tumeurs de l'orbite/secondaire , Adénocarcinome/imagerie diagnostique , Adénocarcinome/anatomopathologie , Tumeurs de l'orbite/imagerie diagnostique , Tumeurs de l'orbite/anatomopathologie
2.
Arch Soc Esp Oftalmol (Engl Ed) ; 94(11): 566-570, 2019 Nov.
Article de Anglais, Espagnol | MEDLINE | ID: mdl-31378389

RÉSUMÉ

Twenty five percent of orbital metastasis is usually of unknown primary origin and it requires histopathological and immunohistochemical confirmation. The fine-needle aspiration biopsy of the orbit is an alternative procedure to conventional orbitotomy. The case is presented of a 60 year-old woman with a right orbit tumour mass and neoplastic lesions in her brain and cranium. As an incidental finding, she had a thrombus in her left atrium, and so an orbitotomy procedure was ruled out. An ultrasound-guided fine-needle aspiration biopsy was performed instead with rapid on-site evaluation of biopsy samples. These showed malignant cells of a lung adenocarcinoma, which was confirmed with immunohistochemistry and chest diagnostic images. In conclusion, biopsy samples obtained by fine-needle aspiration biopsy, together with cytopathological and immunohistological analysis, enabled orbital metastasis to be identified in the case described, and showed that fine-needle aspiration biopsy is a safe, effective, and minimally invasive alternative.


Sujet(s)
Adénocarcinome/secondaire , Cytoponction sous échoendoscopie , Tumeurs du poumon/anatomopathologie , Tumeurs de l'orbite/secondaire , Adénocarcinome/imagerie diagnostique , Adénocarcinome/anatomopathologie , Femelle , Humains , Adulte d'âge moyen , Tumeurs de l'orbite/imagerie diagnostique , Tumeurs de l'orbite/anatomopathologie
3.
Pulmonology ; 25(5): 283-288, 2019.
Article de Anglais | MEDLINE | ID: mdl-31000440

RÉSUMÉ

OBJECTIVES: To identify the prevalence of exposure to secondhand smoke (SHS) at home and in the car among children attending the 4th grade in Azores. METHODS: This is a cross-sectional study that assessed children's exposure to SHS in a convenience sample of school children attending the 4th grade in all primary schools of Azores. The entire population of 4th graders from all elementary schools in Azores were asked to participate in the study (n=2463) in 2017. A validated self-reported questionnaire was administered to 2092 students who delivered the signed informed consent form. We analyzed frequencies, contingency tables, and performed Chi-square tests. RESULTS: Results showed that 56.1% (95% CI 54.0-58.2) children reported having, at least, one smoking parent. Overall exposure to SHS at home was 38.4% (95% CI 36.3-40.6), and overall exposure to SHS in the car was 27.6% (95% CI 25.8-29.3). Children whose parents were smokers reported being more exposed to SHS at home (63.6%; 95% CI 58.6-68.3) than children whose parents were non-smokers (32.3%; 95% CI 30.2-34.6). CONCLUSION: The results showed that the children's exposure to SHS in Azores is high and it tends to be higher than the prevalence found in mainland Portugal. Having parents who smoke is a major risk factor for children's exposure to SHS at home. These data justify a population-wide intervention plan for preventing tobacco consumption and children's exposure to SHS in Azores.


Sujet(s)
Exposition environnementale/statistiques et données numériques , Pères/statistiques et données numériques , Mères/statistiques et données numériques , Fumer/épidémiologie , Pollution par la fumée de tabac/statistiques et données numériques , Automobiles/statistiques et données numériques , Açores/épidémiologie , Enfant , Études transversales , Femelle , Logement/statistiques et données numériques , Humains , Mâle , Prévalence , Facteurs de risque , Enquêtes et questionnaires
4.
Arch. Soc. Esp. Oftalmol ; 92(11): 539-542, nov. 2017. ilus
Article de Espagnol | IBECS | ID: ibc-167814

RÉSUMÉ

Caso clínico: Paciente varón de 35 años con antecedente de infección por VIH, caracterizado por tumoración de crecimiento progresivo en conjuntiva bulbar de ojo izquierdo correspondiente a un carcinoma conjuntival de células escamosas que responde a tratamiento con interferón alfa-2a. Discusión: A nivel conjuntival, el interferón alfa-2b tópico ha sido utilizado como tratamiento inmunomodulador, con el que se observó remisión completa de las neoplasias epiteliales; sin embargo, no se ha publicado el uso del interferón alfa-2a para el tratamiento de carcinoma conjuntival de células escamosas, el cual difiere del intererón alfa-2b en un solo aminoácido (AU)


Case report: A 35 year-old male patient with a history of HIV infection characterized by progressive tumour growth in bulbar conjunctiva of the left eye, corresponding to conjunctival squamous cell carcinoma that responded to treatment with interferon alpha-2a. Discussion: Interferon alpha-2b has been used at conjunctival level as a topical immunomodulator treatment, with complete remission of epithelial neoplasms being observed. However, there have not been any previous publications on the use of interferon alpha-2a, which differs from interferon alpha-2b in a single amino acid, for the treatment of conjunctival squamous cell carcinoma (AU)


Sujet(s)
Humains , Mâle , Adulte , Tumeurs de la conjonctive/traitement médicamenteux , Interféron alpha/usage thérapeutique , Carcinome épidermoïde/traitement médicamenteux , Infections à VIH/complications
5.
Arch Soc Esp Oftalmol ; 92(11): 539-542, 2017 Nov.
Article de Anglais, Espagnol | MEDLINE | ID: mdl-28522115

RÉSUMÉ

CASE REPORT: A 35 year-old male patient with a history of HIV infection characterized by progressive tumour growth in bulbar conjunctiva of the left eye, corresponding to conjunctival squamous cell carcinoma that responded to treatment with interferon alpha-2a. DISCUSSION: Interferon alpha-2b has been used at conjunctival level as a topical immunomodulator treatment, with complete remission of epithelial neoplasms being observed. However, there have not been any previous publications on the use of interferon alpha-2a, which differs from interferon alpha-2b in a single amino acid, for the treatment of conjunctival squamous cell carcinoma.


Sujet(s)
Carcinome épidermoïde/traitement médicamenteux , Tumeurs de la conjonctive/traitement médicamenteux , Interféron alpha/usage thérapeutique , Adulte , Humains , Interféron alpha-2 , Mâle , Protéines recombinantes/usage thérapeutique
6.
J Viral Hepat ; 19(11): 823-8, 2012 Nov.
Article de Anglais | MEDLINE | ID: mdl-23043389

RÉSUMÉ

Prevalence rates of hepatocellular carcinoma (HCC)-associated hepatitis B virus (HBV) pre-S mutants among most genotypes are still lacking. In this study, viral (sub)genotypes of 70 Argentine nucleotide sequences (33 newly obtained) were determined by phylogenetic analysis, and the presence of such mutants was assessed in the American continent for the first time. Nucleotide substitutions of the pre-S2 start codon were observed in 10% of the HBV/A2 sequences. Ten per cent of the HBV/A2 and 12.5% of the HBV/F1b - but none of HBV/F4 - exhibited a deletion in the pre-S1/pre-S2 region. The contribution of these variants to liver cirrhosis (LC) and/or HCC development among HBV/F and HBV/A isolates deserves further prospective clinical studies.


Sujet(s)
Carcinome hépatocellulaire/virologie , Antigènes de surface du virus de l'hépatite B/génétique , Virus de l'hépatite B/génétique , Hépatite B/virologie , Tumeurs du foie/virologie , Précurseurs de protéines/génétique , Adolescent , Adulte , Séquence d'acides aminés , Argentine , Carcinome hépatocellulaire/complications , ADN viral/génétique , Femelle , Génotype , Hépatite B/complications , Antigènes de surface du virus de l'hépatite B/composition chimique , Virus de l'hépatite B/classification , Virus de l'hépatite B/isolement et purification , Humains , Tumeurs du foie/complications , Mâle , Adulte d'âge moyen , Mutation , Études prospectives , Précurseurs de protéines/composition chimique , Délétion de séquence , Jeune adulte
7.
Environ Mol Mutagen ; 53(4): 271-80, 2012 May.
Article de Anglais | MEDLINE | ID: mdl-22434555

RÉSUMÉ

Advances in cancer treatment have led to an increase in patient survival. However, exposure to genotoxic chemotherapeutic agents and ionizing radiation may induce persistent genetic damage in cancer survivors. In this study, we detected genomic instability in chromosomes of peripheral blood lymphocytes from Hodgkin lymphoma patients, 2-17 years after MOPP (nitrogen mustard, Oncovin, procarbazine, and prednisone) chemotherapy with or without radiotherapy. Samples were obtained from 11 healthy individuals, 5 pretreatment patients, and 20 posttreatment patients. Cytogenetic analysis with GTG banding was performed on 1,000 lymphocyte metaphases per donor to identify genomic instability, including numerical and structural chromosomal aberrations, at a resolution of 10 Mb across the entire genome. Our results showed that anticancer treatment did not induce significant differences in the frequency of aneuploidy among the three study groups. However, 1 of the 11 healthy individuals, and 13 of the 20 posttreatment patients had a high frequency of chromosomal breaks and gross chromosomal rearrangements. The types of aberrations observed were random and complex, consistent with persistent genomic instability that was induced by cancer treatment. Clonal expansion of cells with chromosomal lesions was observed in one posttreatment patient only. These findings show that anticancer treatments induce persistent genomic instability, but not aneuploidy. Chemotherapy may affect genes with a role in DNA damage surveillance or repair, which in turn allows the accumulation of nontargeted structural chromosomal damage in future generations of cells. This genomic instability may facilitate the development of second malignancies in Hodgkin lymphoma survivors.


Sujet(s)
Aberrations des chromosomes/effets des médicaments et des substances chimiques , Aberrations des chromosomes/effets des radiations , Maladie de Hodgkin/traitement médicamenteux , Maladie de Hodgkin/radiothérapie , Lymphocytes/anatomopathologie , Adulte , Aneuploïdie , Études cas-témoins , Instabilité des chromosomes/effets des médicaments et des substances chimiques , Instabilité des chromosomes/effets des radiations , Zébrage chromosomique , Humains , Lymphocytes/effets des médicaments et des substances chimiques , Lymphocytes/effets des radiations , Mâle , Chlorméthine , Prednisone , Procarbazine , Statistique non paramétrique , Vincristine
8.
Acta Otolaryngol ; 127(8): 874-9, 2007 Aug.
Article de Anglais | MEDLINE | ID: mdl-17763001

RÉSUMÉ

CONCLUSIONS: The postoperative course was excellent for this type of surgery, and the functional recovery was comparable to that obtained with much more laborious techniques. OBJECTIVES: To compare the advantages and disadvantages of the described technique and oropharyngectomy with labial mandibulotomy. PATIENTS AND METHODS: A total of 46 patients underwent surgery by means of an oropharyngectomy without mandibulotomy. The pharynx was reconstructed using a plasty made of four regional flaps. RESULTS: In addition to obvious esthetic benefits, complications of the osteotomy were absent and surgical time was reduced. Some patients undergoing pull-through oropharyngectomy also underwent a marginal mandibulectomy, markedly reducing the frequency of radionecrosis compared with other statistics of techniques using mandibulotomy.


Sujet(s)
Carcinome épidermoïde/chirurgie , Mandibule/chirurgie , Tumeurs de l'oropharynx/chirurgie , Pharyngectomie/méthodes , Carcinome épidermoïde/mortalité , Carcinome épidermoïde/anatomopathologie , Femelle , Études de suivi , Humains , Mâle , Adulte d'âge moyen , Stadification tumorale , Tumeurs de l'oropharynx/mortalité , Tumeurs de l'oropharynx/anatomopathologie , Pharynx/physiopathologie , Période postopératoire , Récupération fonctionnelle/physiologie , Indice de gravité de la maladie , Espagne/épidémiologie , Taux de survie/tendances , Facteurs temps , Résultat thérapeutique
9.
J Chromatogr A ; 1007(1-2): 127-35, 2003 Jul 25.
Article de Anglais | MEDLINE | ID: mdl-12924558

RÉSUMÉ

A procedure based on solid-phase microextraction (SPME) and gas chromatography-mass spectrometry, operating in the chemical ionisation mode, was developed and optimised in order to determine 10 triazines in water samples. Five different SPME fibers available for analysis [polydimethylsiloxane (PDMS) 100 microm, polyacrylate (PA) 80 microm, PDMS-divinylbenzene (DVB) 65 microm, Carbowax (CW)-DVB 65 microm, and Carboxen (CAR)-PDMS 75 microm] were tested, and PDMS-DVB was selected. To enhance the sensitivity of the SPME, variables affecting adsorption and desorption steps such as temperature, time, pH and ionic strength of the solution were optimised. Detection limits obtained were ranged between 2 and 17 ng l(-1), and precision values were below 8% for the selected PDMS-DVB fiber. The optimised method was applied to real water samples and no triazines were detected.


Sujet(s)
Chromatographie gazeuse-spectrométrie de masse/méthodes , Herbicides/analyse , Triazines , Concentration en ions d'hydrogène , Concentration osmolaire , Sensibilité et spécificité
10.
Food Addit Contam ; 20(3): 237-40, 2003 Mar.
Article de Anglais | MEDLINE | ID: mdl-12623647

RÉSUMÉ

The concentrations of selenium and mercury were determined by atomic absorption spectrophotometry in sweet and dry bottled wines from the Canary Islands, Spain. The concentrations of mercury ranged from 2.6 to 4.9 microg x l(-1) for sweet wines, and from 1.5 to 2.6 microg x l(-1) for dry wines, differences (p < 0.05) being observed according to the island of production and type of wine, but not with respect to vintage. The concentration of selenium varied between 1.0 and 2.0 microg x l(-1) for sweet wines, and between 0.6 and 1.6 microg x l(-1) for dry wines. Differences were found in the mean concentrations according to the type of wine. Dry wines produced in La Palma presented a higher (p < 0.05) mean content than those observed in the wines of El Hierro and Lanzarote.


Sujet(s)
Contamination des aliments/analyse , Mercure/analyse , Sélénium/analyse , Vin/analyse , Analyse d'aliment/méthodes , Espagne , Spectrophotométrie atomique
11.
J Chromatogr A ; 963(1-2): 95-105, 2002 Jul 19.
Article de Anglais | MEDLINE | ID: mdl-12188006

RÉSUMÉ

A solid-phase microextraction (SPME) procedure using three commercialised fibers (Carbowax-divinylbenzene, Carboxen-polydimethylsiloxane and divinylbenzene-Carboxen-polydimethylsiloxane) is presented for the determination of a selected group of organochlorine compounds in water samples. The extraction performances of these compounds were compared using fibers with two and three coatings. The optimal experimental procedures for the adsorption and desorption of pesticides were determined. The limits of detection with the divinylbenzene-Carboxen-polydimethylsiloxane fiber at levels below ng l(-1) were similar or lower than values presented in the literature for several of these compounds using polydimethylsiloxane fiber. The advantages of using this fiber, such as no salt addition, are discussed. Finally, the optimised procedures were applied successfully for the determination of these compounds in polluted ground water samples.


Sujet(s)
Hydrocarbures chlorés , Insecticides/analyse , Polluants chimiques de l'eau/analyse
12.
Carcinogenesis ; 23(8): 1267-71, 2002 Aug.
Article de Anglais | MEDLINE | ID: mdl-12151343

RÉSUMÉ

Fanconi anaemia (FA) is a rare genetic syndrome of cancer susceptibility characterized by spontaneous and induced chromosome fragility, especially after treatment with cross-linking agents. Recent investigations showed interactions between FA proteins and chromatin remodelling factors. To investigate a potential uneven distribution of the FA pathway through the human genome depending on chromatin conformation, we have analysed chromosome breakage in the largest constitutively heterochromatic region in the human genome, the 1q12 band, in lymphocytes from FA patients, carriers and healthy controls after treatment with the cross-linking agents mitomycin-C (MMC) and diepoxybutane (DEB). As expected, a higher level of MMC-induced cytotoxicity and chromosome breakage was observed in cells from FA patients when compared with normal controls and carriers. However, the increase in 1q12 breakage after increasing concentrations of MMC was of a similar magnitude in FA patients, carriers and controls. Similarly, DEB induced a high level of overall genome chromosome fragility in cells from FA patients when compared with controls with no parallel increase in chromosome breaks specifically involving the heterochromatic band 1q12. We therefore conclude that, unlike the overall genome, the sensitivity of chromosome 1 constitutive heterochromatin to the chromosome breaking activity of cross-linking agents is independent of a functional FA pathway, indicating that the action of the FA pathway is unevenly distributed through the human genome.


Sujet(s)
Chromosomes humains de la paire 1 , Réactifs réticulants/toxicité , Composés époxy/toxicité , Anémie de Fanconi/génétique , Mitomycine/toxicité , Mutagènes/toxicité , Études cas-témoins , Dépistage des porteurs génétiques , Humains , Hybridation fluorescente in situ/méthodes
13.
Arch Med Res ; 32(3): 202-7, 2001.
Article de Anglais | MEDLINE | ID: mdl-11395185

RÉSUMÉ

BACKGROUND: Cytogenetic studies in acute lymphoblastic leukemia (ALL) have identified numerical and structural chromosomal abnormalities related to the disease's pathophysiologic characteristics. These findings correlate with prognosis and response to treatment in ALL patients. The purpose of this study was to define the frequency of chromosomal abnormalities in a group of Mexican children with ALL and to compare these data with those reported in the literature. METHODS: Bone marrow chromosome studies with GTG bands were performed in 150 pediatric patients with ALL who were naive to antileukemic treatment and aged from 5 months to 16 years; the majority was diagnosed as L1. RESULTS: Among 131 patients, 30 (22.9%) karyotypes were normal and the remaining 101 (77.1%) had abnormal karyotypes with numerical and/or structural abnormalities. Among patients with numerical abnormalities, the most frequent karyotypes were hyperdiploidy with 51-65 chromosomes (30 patients) and hyperdiploidy with 47-50 chromosomes (18 patients). Among recurrent, non-random, and primary structural abnormalities, the most frequent was t(9;22), followed by t(1;19). Aberrations involving band 11q23 were not detected, and only one of two patients with L3 had the t(8;14). Of the secondary non-random abnormalities, dup(1q), del(6q), and i(7)(q10) were found. CONCLUSIONS: The frequency and type of chromosomal abnormalities found was comparable to those reported in the literature with similar methodology and pediatric populations; however, the number of cases analyzed should be increased to create a database of Mexican children with ALL, and several patients require molecular analysis to identify chromosomal abnormalities not detected through conventional cytogenetic studies.


Sujet(s)
Aberrations des chromosomes , Leucémie-lymphome lymphoblastique à précurseurs B et T/génétique , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Caryotypage , Mâle , Mexique , Leucémie-lymphome lymphoblastique à précurseurs B et T/ethnologie
14.
Nat Cell Biol ; 1(2): 113-8, 1999 Jun.
Article de Anglais | MEDLINE | ID: mdl-10559883

RÉSUMÉ

The fate of free cholesterol released after endocytosis of low-density lipoproteins remains obscure. Here we report that late endosomes have a pivotal role in intracellular cholesterol transport. We find that in the genetic disease Niemann-Pick type C (NPC), and in drug-treated cells that mimic NPC, cholesterol accumulates in late endosomes and sorting of the lysosomal enzyme receptor is impaired. Our results show that the characteristic network of lysobisphosphatidic acid-rich membranes contained within multivesicular late endosomes regulates cholesterol transport, presumably by acting as a collection and distribution device. The results also suggest that similar endosomal defects accompany the anti-phospholipid syndrome and NPC.


Sujet(s)
Cholestérol/métabolisme , Endosomes/métabolisme , Membranes intracellulaires/métabolisme , Lysophospholipides/métabolisme , Lipides membranaires/métabolisme , Maladies de Niemann-Pick/métabolisme , Peau/métabolisme , Animaux , Syndrome des anticorps antiphospholipides/génétique , Syndrome des anticorps antiphospholipides/métabolisme , Lignée cellulaire , Cellules cultivées , Cricetinae , Endocytose , Endosomes/effets des médicaments et des substances chimiques , Endosomes/génétique , Fibroblastes/métabolisme , Fibroblastes/ultrastructure , Humains , Lysosomes/métabolisme , Monoglycérides , Maladies de Niemann-Pick/génétique , Maladies de Niemann-Pick/anatomopathologie , Récepteur IGF de type 2/métabolisme , Protéines recombinantes/métabolisme , Peau/anatomopathologie , Peau/ultrastructure , Zinc/pharmacologie
15.
Rev. méd. Hosp. Gen. Méx ; 60(4): 218-20, oct.-dic. 1997. ilus
Article de Espagnol | LILACS | ID: lil-225138

RÉSUMÉ

Se presenta el caso de un paciente masculino con retraso psicomotor y características fenotípicas del síndrome dup (3q). El estudio citogenético reveló un rearreglo cromosómico de novo consistente en una inserción invertida de la región duplicada que resultó en un cariotipo 46,XY, der (3) (pter - q13.3::q27 - q26.1::q13.3 - qter). Esta aberración cromosómica no habria sido descrita previamente en este síndrome


Sujet(s)
Humains , Mâle , Enfant d'âge préscolaire , Chromosomes humains de la paire 3/génétique , Famille multigénique/génétique , Aberrations des chromosomes/diagnostic , Aberrations des chromosomes/génétique , Aberrations des chromosomes/sang , Déficience intellectuelle/diagnostic , Déficience intellectuelle/génétique , Cytogénétique/méthodes , Syndrome
16.
Am J Med Genet ; 70(1): 24-7, 1997 May 02.
Article de Anglais | MEDLINE | ID: mdl-9129736

RÉSUMÉ

We report on a Mexican boy with microcephaly, short stature, and a high frequency of chromosome aberrations with rearrangements involving chromosomes 7 and 14, typical of ataxia telangiectasia (AT) patients. He had neither ataxia nor telangiectasia, and his immunological status and serum alpha feto protein (AFP) level were normal. Bleomycin hypersensitivity, which has been demon-strated in AT patients, was tested in the patient using AT and normal subjects for comparison. The frequency of spontaneously occurring chromosome aberrations in lymphocyte cultures was significantly higher in the patient and the AT patient than in the normal subject. Four cells from the patient showed structural rearrangements involving chromosomes 7 or 14, with breakpoints typical for AT. When exposed to 5.0 micrograms bleomycin, the lymphocytes from the AT patient showed the highest sensitivity to this agent; our patient had an intermediate sensitivity. In both patients several rearrangements involving chromosomes 7 and 14 were scored, while none were observed in the normal subject. A colony survival assay (CSA) [Huo et al., 1994: Cancer Res 54:2544-2547], using a lymphoblastoid cell line (LCL) derived from our patient, showed a survival fraction (SF) of 7%, which is in the same range as in AT patients. The clinical picture, together with the cytogenetic and radiosensitivity results, suggests that our patient fits the variable spectrum of Nijmegen breakage syndrome.


Sujet(s)
Malformations multiples/génétique , Bléomycine/toxicité , Aberrations des chromosomes , Chromosomes humains de la paire 14 , Chromosomes humains de la paire 7 , Lymphocytes/anatomopathologie , Ataxie-télangiectasie/génétique , Survie cellulaire/effets des médicaments et des substances chimiques , Survie cellulaire/effets des radiations , Cellules cultivées , Enfant , Diagnostic différentiel , Femelle , Humains , Lymphocytes/effets des médicaments et des substances chimiques , Lymphocytes/effets des radiations , Mâle , Syndrome , Rayons X
18.
Radiat Res ; 147(1): 48-54, 1997 Jan.
Article de Anglais | MEDLINE | ID: mdl-8989369

RÉSUMÉ

We used a single-cell alkaline gel electrophoresis (SCAGE) assay to study repair of primarily single-stranded DNA breaks after in vitro exposure to ionizing radiation in cells from children with systemic lupus erythematosus (SLE), juvenile rheumatoid arthritis (JRA), systemic sclerosis (SSc) and dermatomyositis. Peripheral blood lymphocytes from patients with SLE, JRA and SSc had significantly greater DNA damage after irradiation with 1.5 Gy and 30 min incubation (i.e. repair time) than did those from controls, as assessed by the length of the migrating DNA comet. The mean comet tail lengths were: SLE, 42 microns; JRA, 40 microns; and SSc, 36 microns. Each of these was significantly different from controls, which had a mean comet tail length of 18 microns (P < 0.001, < 0.001 and < 0.05, respectively). Cells from patients with dermatomyositis had an average comet tail length of 22 microns and were not significantly different from controls. Understanding the etiology of the delay in DNA repair in these diseases may provide insight into disease pathogenesis.


Sujet(s)
Arthrite juvénile/immunologie , Altération de l'ADN , Réparation de l'ADN , ADN/effets des radiations , Lupus érythémateux disséminé/immunologie , Lymphocytes/effets des radiations , Adolescent , Adulte , Maladies auto-immunes/immunologie , Cellules cultivées , Enfant , Enfant d'âge préscolaire , Radio-isotopes du cobalt , Dermatomyosite/immunologie , Ethnies , Femelle , Humains , Nourrisson , Cinétique , Lymphocytes/anatomopathologie , Lymphocytes/physiologie , Mâle , Rayonnement ionisant , Valeurs de référence , Sclérodermie systémique/immunologie
19.
Mutat Res ; 357(1-2): 115-21, 1996 Oct 25.
Article de Anglais | MEDLINE | ID: mdl-8876687

RÉSUMÉ

Fanconi anemia (FA) is characterized at the cellular level by a high frequency of spontaneous chromosomal aberrations; crosslinking agents cause an abnormal increase in the frequency of chromosomal damage, and semiconservative DNA synthesis is severely inhibited. Deoxyribonucleotides are needed in both semiconservative and repair DNA synthesis. To investigate the involvement of deoxyribonucleotide pools in the inhibition of DNA synthesis in FA, we evaluated the effect on FA lymphocytes of hydroxyurea (HU), an inhibitor of ribonucleotide reductase which is known to alter the intracellular levels of deoxyribonucleotides. To achieve this goal, lymphocyte cultures of 4 FA patients and 4 normal individuals were used. Cultures were treated with HU and/or mitomycin C and normal human plasma. All cultures were processed to detect the number of DNA synthesizing nuclei by autoradiography. Scoring of 2000 nuclei for each kind of culture every 6 h in the last 24 h of incubation showed that, in long incubation periods, DNA synthesis in FA is largely inhibited by HU and this hypersensitivity may be partially decreased by addition of normal human plasma. It is known that recovery from damage induced by HU involves several enzymes such as flavin oxido-reductase, superoxide dismutase and catalase which are involved in the production or scavenging of O2 radicals; FA cells are deficient in the detoxification of oxygen and this could explain the response of FA cells to HU.


Sujet(s)
ADN/biosynthèse , Anémie de Fanconi/génétique , Hydroxy-urée/pharmacologie , Cellules cultivées , Milieux de culture , Réparation de l'ADN/effets des médicaments et des substances chimiques , Désoxyribonucléotides/métabolisme , Antienzymes/pharmacologie , Humains , Lymphocytes/effets des médicaments et des substances chimiques , Lymphocytes/métabolisme , Mitomycine/toxicité , Plasma sanguin , Ribonucleotide reductases/antagonistes et inhibiteurs
20.
Rev Invest Clin ; 48(5): 355-60, 1996.
Article de Espagnol | MEDLINE | ID: mdl-9005512

RÉSUMÉ

Aneuploidies have been traditionally diagnosed by chromosome analysis, however this method may be difficult to perform in certain cellular types or in severely ill patients. With the fluorescence in situ hybridization (FISH) technique it is possible to identify the number of specific chromosomes in interphase cells. In the present study we analyzed exfoliated epithelial cells from the oral mucosa of 15 patients with trisomy 21, and in six patients with mosaicism; five normal subjects were included for comparison. To allow the probe to reach its target DNA we first treated the keratin-surrounded membrane with pepsin during 20 minutes. In the 15 cases of trisomy 21, the cells showed five fluorescent signals indicating the presence of three chromosomes 21 and two 13, while the normal subjects showed four signals. In one girl with Turner syndrome and a karyotype 46,X+mar, the FISH analysis in 1000 cells revealed that the marker derived from chromosome X and there was a mosaicism 45,X/46,X,r(X). In the other patients with mosaicisms, we observed variations in the proportions of cells but the differences were not significant. In conclusion, interphase FISH on buccal cells showed to be a rapid, effective and non-invasive method for the diagnosis of chromosome aberrations, particularly when the cytogenetic study on lymphocytes is difficult to perform.


Sujet(s)
Aneuploïdie , Syndrome de Down/génétique , Muqueuse de la bouche , Femelle , Humains , Hybridation fluorescente in situ , Caryotypage , Mâle
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