Alteraciones cromosómicas secundarias en pacientes con leucemia mieloide crónica, en un hospital de referencia del noreste de México / Secondary Chromosomic Changes in Patients with Myeloid Leukemia in a Reference Hospital in Northeastern Mexico

Introducción: la caracterización del perfil citogenético que presenta una determinada fase de la leucemia mieloide crónica (LMC), está ofreciendo nuevas direcciones para la investigación de la etiología a nivel molecular. En México no existen datos de la descripción cromosómica de esta enfermedad, por lo que el objetivo del presente estudio fue determinar las alteraciones cromosómicas de 56 pacientes con LMC. Diseño: estudio transversal (diagnóstico y estadio). Material y métodos: las muestras de médula ósea de 56 pacientes con LMC en diferentes etapas, fueron sometidas a estudios citogenéticos mediante técnicas de bandeo G e hibridación in situ fluorescente (FISH), con sonda específica para cromosoma Filadelfia (Ph). Resultados: 19% (6/31) de los pacientes en etapa crónica mostró alteraciones cromosómicas secundarias, en contraste con 60% (15/25) observado en aquellos pacientes en etapa acelerada. Las alteraciones cromosómicas secundarias más frecuentes fueron: las trisomías 8 y 19, cromosoma Ph extra e isocromosoma de brazos largos del cromosoma 17. Conclusión: este es el primer trabajo que determina alteraciones cromosómicas secundarias en pacientes mestizos mexicanos con LMC, cuyas frecuencias están de acuerdo con lo reportado para otras poblaciones a nivel mundial.

Introduction: Our aim was to characterize the cytogenetic profile that displays a certain phase of chronic myelogenous leukemia (CML), offering new directions for investigation of the etiology to the molecular level. In Mexico, data does not exist in this regard; thus, the objective of the present study was to determine cytogenetic alterations in 56 Mestizo Mexican patients with LMC. Design: Cross-sectional study (diagnosis and stage) was carried out. Materials and Methods: samples of bone marrow of 56 patients with CML in different phases were analyzed using G banding and fluorescence in situ hybridization (FISH) with DNA probes for Philadelphia chromosome (Ph). Results: 19% of patients in chronic stage showed secondary chromosomal alterations in contrast with an observed 60% in patients in accelerated stage. Most frequent alterations included trisomy 8 and 19, extra Ph chromosome, and isochromosome of thell. Conclusions: We believe this to be the first work that determines secondary chromosomal alterations in Mexican racially mixed patients with LMC. These are in agreement with those reported for other populations at the worldwide level.

Evaluation of the mutagenic and cytotoxic effects of mercurous chloride by the micronuclei technique in golden Syrian hamsters.

The aims of this study were to evaluate the mutagenic and cytotoxic activity of mercurous chloride by the micronucleus technique in vivo on the bone marrow of golden Syrian hamsters after a single i.p. drug administration. Forty male golden Syrian hamsters were classified into eight groups: negative control, positive control and six groups treated with different doses of mercurous chloride (1.25, 2.5, 5, 10, 20 and 40 mg/kg). The negative control was injected with physiological saline i.p. and the positive control with cyclophosphamide at a dose of 80 mg/kg i.p. With respect to mutagenic effect, the average number of micronucleated polychromatic erythrocytes (MPE) in hamsters treated with different doses of mercurous chloride was not significant compared with the negative control. With respect to cytotoxic effect, the average polychromatic erythrocyte/red blood cell ratio showed a significant decrease when the doses were higher than the 2.5 mg/kg dose compared with the negative control. In conclusion, this preliminary study shows a cytotoxic effect but not a mutagenic effect of calomel in vivo at one time point (24 h).

[Secondary chromosomic changes in patients with chronic myeloid leukemia in a reference hospital in Northeastern Mexico]. / Alteraciones cromosómicas secundarias en pacientes con leucemia mieloide crónica, en un hospital de referencia del noreste de México.

INTRODUCTION: Our aim was to characterize the cytogenetic profile that displays a certain phase of chronic myelogenous leukemia (CML), offering new directions for investigation of the etiology to the molecular level. In Mexico, data does not exist in this regard; thus, the objective of the present study was to determine cytogenetic alterations in 56 Mestizo Mexican patients with LMC. DESIGN: Cross-sectional study (diagnosis and stage) was carried out. MATERIALS AND METHODS: samples of bone marrow of 56 patients with CML in different phases were analyzed using G banding and fluorescence in situ hybridization (FISH) with DNA probes for Philadelphia chromosome (Ph). RESULTS: 19% of patients in chronic stage showed secondary chromosomal alterations in contrast with an observed 60% in patients in accelerated stage. Most frequent alterations included trisomy 8 and 19, extra Ph chromosome, and isochromosome of the 17. CONCLUSIONS: We believe this to be the first work that determines secondary chromosomal alterations in Mexican racially mixed patients with LMC. These are in agreement with those reported for other populations at the worldwide level.

Evaluation of sex chromosome aneuploidies in women with Turner's syndrome by G-banding and FISH. A serial case study.

OBJECTIVE: To evaluate sex chromosome aneuploidies in patients with Turner's syndrome using two cytogenetic techniques. STUDY DESIGN: A sample of 35 women with a clinical suspicion of Turner syndrome was examined in the Hospital of Obstetrics and Gynecology, Instituto Mexicano del Seguro Social, Monterrey, Mexico. They were subjected to a conventional cytogenetic technique with G-banding and to fluorescence in situ hybridization (FISH) using a specific alpha satellite X chromosome (DXZ1) and specific alpha satellite Y chromosome (DYZ1). RESULTS: Using both techniques, 17 cases (48.57%) showed the same karyotype. Using FISH: (1) in 8 cases the presence of the Y chromosome was confirmed, (2) in 18 cases (51.43%) a new cell line was identified, (3) in 2 cases (5.71%) the derivative X was clarified, and (4) in 3 cases (8.57%) the origin of the chromosome markers (1 of X chromosome and 2 of Y chromosome) was delineated. FISH highlighted the differences between the initial diagnosis, based on G-banding, and the final diagnosis, determined by specific probes for the X and Y chromosomes. CONCLUSION: FISH is a useful tool in the detection of low-frequency cell lines and identification of the nature and origin of derivative chromosomes and unknown chromosome markers that have important implications for the treatment of patients with Turner's syndrome.

Validating polymerase chain reaction for detecting HPV in cervical intraepithelial neoplasia.

OBJECTIVE: To validate polymerase chain reaction (PCR) analysis for detecting HPV in Mexican women with cervical intraepithelial neoplasia, grade 2 and 3 (CIN 2/3) versus histologic evidence. STUDY DESIGN: A diagnostic test study was carried out. A sample of 25 selected women who were diagnosed by histology as having CIN 2/3 was analyzed. Biopsies were examined for HPV infection using light microscopy. The histologic criteria used for HPV infection included koilocytosis, dyskeratosis cells, bi/multinucleation, and parakeratosis. PCR was performed on each sample using commercial probes (MY09 and MY11), and then HPV typing was carried out by restriction fragment length polymorphism analyses. RESULTS: PCR revealed that 88% (22/25) of the women were HPV positive (19 high risk and 3 low risk). In contrast, histology revealed that 28% (7/25) of the women were HPV positive. The number of women infected with HPV was 3.14 times (88/28) more frequently detected with PCR procedure than with the histology. Using PCR as the gold standard, 4 values (true positive, false positive, false negative and true negative) were obtained (7, 0, 15 and 3), and histology had a sensitivity, specificity, and positive and negative predictive values of .32, 1.00, 1.00 and .17, respectively. There was a correlation between low-risk and high-risk for PCR (chi 2 with Yates correction = 6.32, P = .012). CONCLUSION: PCR is a powerful tool for the early detection of HPV infection and is independent of histologic criteria.

Micronuclei in cervical smears and peripheral blood lymphocytes from women with and without cervical uterine cancer.

Cervical cancer represents the second most common malignant neoplasia in women world-wide. In Mexico, cervical cancer is the most common female malignancy. It has been recently seen an increased frequencies of micronuclei (MN) lymphocytes and cervical epithelial cells of cervical cancer patients. The aim of this hospital-based unmatched case-control study was to investigate the association between progressive stages in development of cervical cancer and frequency of micronucleated cells in the cervical epithelium and peripheral lymphocytes of 40 women, grouped by disease stage. Women at the Obstetrics and Gynecology Hospital of the Instituto Mexicano del Seguro Social (IMSS) in Monterrey, Mexico were diagnosed and classified on the bases of the Papanicolaou (PAP) smear and colposcopy/biopsy into control, low-grade squamous intraepithelial lesions (LGSIL), high-grade squamous intraepithelial lesions (HGSIL), and invasive groups. Analysis of the MN data in both cell types revealed (a) homogeneity among women within each of the four groups with regard to MN frequency, (b) in general, a correlation between MN frequency and grade of cervical lesion, and (c) a positive linear trend between the MN frequency and increased cervical cancer risk. In conclusion, we suggest that MN are a useful biomarker of cancer risk. Nonetheless, these results should be validated by other researchers.

Mutagenic activity of diazepan evaluated by in vivo cytogenetic tests

Background. Diazepam, one of the benzodiazepine group of tranquilizers, in used as an adjunctive drug for sedation and for relief of anxiety in the treatment of epilepsy. Suspicion has been aroused of a possible mutagenic and teratogenic effect of this drug, thus the potential for cancer development. Methods. To analyze the mutagenic effect of diazepam, the micronuclei and sister chromatid exchange (SCE) tests were performed by in vivo techniques in the bone marrow of Balb-C mice after intraperitoneal drug administration. Sixty mice, 30 males and 30 females, were classified as negative control (n=12), positive control (n=12), and three groups were treated with diazepam (n=36). All groups were matched by sex, and each mouse received a single intraperitoneal injection. Negative control group was injected with physiological saline, positive control group with mitomycin-C at a dose of 0.5 mg/kg of body weight. Treated groups received diazepam, one at 0.1, the other at 0.2, and the last, at 0.4 mg/kg. Results. The results showed a significant increase in the frequency of micronucleated polychromatic erythrocites at all doses tested for whole population in relation to negative control. The polychromatic/normochromatic erythrocyte ratio showed a significante decrease at doses of 0.1 and 0.4 mg/kg in relation to negative control, the male mice being those affected. Conclusions. It is concluded that diazepam showed mutagenic and genotoxic effects on bone marrow cells of mice and that it might represent a human health risk

Activity satellite association and polymorphismo of Ag stained nucleolus organizer regions (Ag+ NORs) in lymphocytes from women with cervical uterine cancer

Thirty five female patients with different stages of neoplastic lesions: cervical intraepithelial neoplasia (CIN) or dysplasia (CIN I and CIN II), in situ carcinoma (CIS), and adenocarcinoma, and 27 healthy women (controls) wee studied to determine the activity, satellite association, and jpolymorphism of Ag stained nucleolus organizer regions (Ag+NORs) in acrocentric chromosomes in metaphases obtained from peripheral blood lymphocytes. For each person, 25 to 50 metaphases stained with ammoniacal silver technique were scored. The average number of Ag+ NORs was higher in women with adenocarcinoma (7.66 ñ 0.72) than in controls (6.65 ñ 0.74). Non-associated chromosomes showing Ag+ NORs were found more frequently in patients (5.85 ñ 0.88) than in controls (4.81 ñ 0.67). Patients aged 30-39 and 60 or more had an increase of Ag+ NORs (7.99 ñ 1.04, and 7.81 ñ0.71) with respect to their controls (6.36 ñ 0.052 and 6.17 ñ 0.88), but the frequency of satellite association showed lower values in 50 -59 year-old patients (0.75 ñ 0.08) than in controls (1.02 ñ 0.19). The most frequent association in patients was the large type (patients = 38.96 perecent, controls 30.49 ). The partial association showed higher values (6.49 percent) than controls (2.44 percent). Otherwise, the spherical association was more frequent for controls (37.80 percent) than for patients (28.57 percent). All these differences were statistically significant (p<0.05). The frequency of Ag+ NORs and the type of polymorphism of satellite association could be related to the neoplastic process, while the frequency of satellite association and of polymorphism of Ag+ NORs seems to be irrelevant

A case of mosaic Down's syndrome with two Robertsonian translocations

Una niña con síndrome de Down mostró mosaicismo con dos diferentes línes celulares: 45,XX,der(14q;21q)/46,XX,der(21q,21q)+21. Los arreglos cromosómicos detectados en esta paciente aparentemente surgieron de novo. Se discuten cuatro mecanismos para explicar el origen del mosaicismo: disociación de una translocación cromosómica (14q;21q) presente en un cigoto 45,XX,der(14q,21q); dos translocaciones secuenciales en la primera y segunda divisiones del cigoto (46,XX); una translocación entre cromátides en un cigoto 47,XX,+21; y un origen independiente de las dos líneas celulares

Algunos factores epidemiológicos en el cáncer cervicouterino / Certain epidemiologic factors of cervico-uterine cancer

Colateralmente a un estudio citogenético se entrevisto a un grupo de 44 pacientes que acudían por primera vez a la consulta de oncología del Hospital Regional de Especialidades No. 23 "Dr. Ignacio Morones Prieto", Monterrey, N.L., del Instituto Mexicano del Seguro Social, las cuales presentaban alguna alteración neoplásica cervicouterina, y a 45 mujeres sin ningún padecimiento neoplásico que fueron consideradas como grupo control, a las que se les interrogó sobre algunos antecedentes ginecoobstétricos y además se les determinaron los grupos sanguíneos y Rh (D). Los resultado obtenidos indicaron que el cáncer invasor en estadio II es el padecimiento neoplásico cervicouterino más común (25 por ciento), siendo la cuarta década de la vida la etapa en la que mayormente se diagnosticó y tiende a presentarse en mujeres que inicaron relaciones sexuales a edad temprana. Se manifiesta también con más frecuencia en multigestas, en mujeres que presentan antecedentes de uno o más abortos, y en aquéllas que hayan utilizado anticonceptivos orales o dispositivo intrauterino (DIU) como mecanismo de control de la natalidad

Gene frequencies and admixture estimates for ABO, Rho (D), and MN blood groups in persons with mono- and polyphletic surnames in monterrey, N.L., Mexico.

A sample of 3,211 males and females insured by the Instituto Mexicano del Seguro Social (I.M.S.S.) residing in the Monterrey Metropolitan Area (MMA), northeastern Mexico, were selected by their monophyletic or polyphyletic surnames. ABO, Rho (D), and MN blood groups were determined, and phenotype and gene frequencies were estimated to study the genetic variation among populations with these surnames, to estimate the genetic contribution from their most important ancestral populations, both Spanish and Mexican Indians, and to compare genetic structure with other populations that have been reported from this MMA and other urban centers in Mexico with the hypothesis that the persons with monophyletic surnames are the closest descendants of the founders, who colonized the MMA between 1577 and 1596, and that they still conserve some degree of genetic isolation. The results indicate that the selected persons with monophyletic surnames are the closest to the Spanish, supporting the above hypothesis; on the other hand, persons with polyphyletic surnames are the closet to other Mestizo populations from central Mexico and the Mexican Indians. Hybrid persons with one monophyletic and one polyphyletic surname are closer to the monophyletics due to the fact that 90% of these polyphyletics originated in northeastern Mexico. It is concluded that, at present, the Mestizo population from the MMA is integrated by two subpopulations, one with monophyletic and the other with polyphyletic surnames. It is suggested that due to an increase in migration in Mexico, the Mestizo genetic structure of the MMA population will slowly become more uniform. © 1995 Wiley-Liss, Inc.

Síndrome de Turner 45,XO asociado con una inversión pericéntrica del cromosoma 13 / Turner's syndrome 45, XO associated with a pericentric inversion of chromosome 13

El propósito del presente trabajo es el de describir a una paciente con manifestaciones clínicas del síndrome de Turner, quien al realizarle los estudios cromosómicos en cultivo de linfocitos de sangre periférica, y con técnicas de bandas G, mostró un complemento cromosómico de 45, XO y además una inversión pericéntrica del cromosoma 13 con sus puntos de ruptura en las bandas pll y ql4. Los padres y el hermano de la propósita presentaron un cariotipo normal. Se discuten los mecanismos probables de origen de ambas anomalías y los pocos casos reportados en la literatura

Síndrome de Down portador de una inversión pericéntrica del cromosoma 14 / Down's syndrome carrying a pericentric inversion of chromosome 14

El propósito del presente trabajo es el de describir a un paciente masculino con el síndrome de Down, quien al realizarle los estudios cromosómicos en cultivo de linfocitos de sangre periférica y con técnicas de bandas G, mostró un complemento cromosómico de 47,XY+21 y una inversión pericéntrica del cromosoma 14 con sus puntos de ruptura en las bandas pll y q22. El padre y el hermano presentaron cariotipo normal I, la madre fue portadora de la inversión. Se discuten los mecanismos probables del origen de ambas anomalías y los casos reportados en la literatura

Population genetics in the state of Nuevo León, México: VII. Frequencies of ABO, Rh(D), MN, Kell and other genetic traits in patients with allergy

Con el propósito de contribuir al conocimiento de la composición genética de las poblaciones humanas en el Estado de Nuevo León y basándose en el hecho de que los análisis de las frecuencias relativas de diferentes características genéticas en grupos de personas que sufren de varios estados de enfermedad han ayudado para indicar el componente genético que, a un mayor o menor grado están presentes en la mayoría de las enfermedades humanas, fueron analizadas las frecuencias para los grupos sanguíneos ABO, Rh(D), MN y Jell, así como la habiliddad para gustar la feniltiocarbamida (FTC), la presencia de vellos en la falange media, uso de las manos y la preferencia para el cruzado de manos y brazos, en 350 pacientes que padecían asma, rinitis alérgica (fiebre de heno) y diferentes alergias de piel, y 172 personas testígos comparadas por edad y sexo. Pacientes con rinitis mostraron frecuencias más altas de los grupos sanguíneos M y K(-), sensibilidad positiva a la FTC, presencia de vello en la falange digital media, cruzado izquierdo de mano y brazo. Pacientes con asma tenían alta frecuencia de grupo sanguíneos Rh(+) y K(-) y personas con alergias de piel mostraron altos porcentajes de grupo sanguíneo M

Los grupos sanguíneos ABO y Rh (D) en poblaciones de la Región Lagunera de México (Calculo de la frecuencia de incompatibilidad simple y doble en matrimónios y maternofetal) / ABO and Rh (D) blood groups in populations of the Laguna Region, Mexico. Estimate of simple and double incompatibility frequency in married subjects and maternal-fetal

Se determinaron los grupos sanguíneos de los sistemas ABO y Rh(D) en 9.351 personas que acudían a diferentes centros médicos de las ciudades de Torreon, Coahuila y Gomez Palacio, Durango en la Región Lagunera México; encontrándose los porcentajes siguientes para ABO: A, 26,37; B, 9,70; AB, 1,87; O, 62,06, y para Rh(D): Rh(D) +, 95,86 y Rh(D)-, 4,14. Con base en estas frecuencias se estimaron los porcentajes de matrimonios incompatibles siendo de 29,34 por ABO, 3,97 por Rh(D) y de 1,16 para ambos, y los porcentajes de incompatibilidad maternofetal siendo de 16,22 por ABO, 3,31 por Rh(D) y 0,54 para ambos. Se encontró que las frecuencias anteriores tanto de grupos sanguíneos como de incompatibilidad, eran intermedias a las informadas para poblaciones antecesoras, indígenas, mexicanos y españoles, y similares a lo encontrado en poblaciones mestizas del estado de Nuevo Leon, México