Epidemiología genética de la obesidad en el noreste de México: Búsqueda de familias nucleares informativas / Epidemiological genetics of obesity in Northeast Mexico: Ascertainment of nuclear informative families

Los objetivos generales de este estudio descriptivo en núcleos familiares fueron: 1) conocer la distribución del estado nutricio de los progenitores con respecto al estado nutricio de sus descendientes y 2) conocer los progenitores que tienen una frecuencia mayor de descendientes con riesgo de sobrepeso (RS) y sobrepeso (S). Se determinó en una muestra de 126 núcleos familiares el índice de masa corporal (IMC) de los progenitores (kappa = 0.95) y descendientes (kappa = 0.97). De todos los progenitores se conocía el lugar de nacimiento de sus cuatro abuelos. Se encontró una amplia variabilidad en el estado nutricio a partir del IMC de los 252 progenitores (Normal-Normal, Normal Obeso, etc.) y sus 300 descendientes (Desnutrido, Normal, RS y S). Se encontró un menor número de descendientes con RS y S (7.7%) en los progenitores con un estado nutricio Normal Normal (grupo de referencia) en comparación con los descendientes de progenitores con Sobrepeso Sobrepeso (22%) y Sobrepeso-Obesidad (35%). El hecho de haber encontrado que los núcleos familiares cuyos progenitores con Sobrepeso Sobrepeso y Sobrepeso Obeso tienen mayor proporción de descendientes con RS y S, nos facilitará en futuros estudios la búsqueda de genes de susceptibilidad para la obesidad en núcleos familiares Mexicanos.

The aims of this descriptive study in nuclear families were: 1) assess the distribution of nutritional stage of parents with respect to the nutritional stage of their children and 2) analyze those parents with the highest frequency of children at risk of being overweight (RS) and overweight (S). Body mass index (BMI) was determined in a sample of 126 nuclear families. Kappa values for parents and children were 0.95 and 0.97, respectively. For parents, birthplace of four grandparents was known. A wide variability in the nutritional stage (assessed by BMI) of the 252 parents (Normal-Normal, Normal Obese, etc.) and their 300 children (Undernourished, Normal, RS and S) was found. A minimum number of children with RS and S (7.7%) was found among parents with Normal Normal nutritional stage (reference group) in comparison with children whose parents were Overweight-Overweight (22%) and Overweight Obese (35%). Since we found in parents Overweight-Overweight and Overweight Obese a greater proportion of children with RS and S, this finding will facilitate the search for susceptibility genes for obesity in Mexican nuclear families with these characteristics.

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.

Evaluación del programa de detección oportuna del cáncer cervicouterino (DOC) en Durango, México / Evaluation of the program for timely detection of cervical cancer in Durango, Mexico

In Mexico, more of 36 of malignant tumors in the women are cervical cancer, representing an important public health problem. Although cytologic screening for cervical cancer was introduced in 1974, the mortality rate for this disease has been increasing. The state of Durango represents the second national place in mortality by CaCu (3.4/100,000). Since there are few the studies of DOC program evaluation in Mexico were considered important to evaluated the cervical screening program (coverage, assiduity, diagnoses and pursuit) in the state of Durango. Of 40,000 active sexually women attended in the IMSS; we received 11,185 slides during May of 1999 to April of 2000 for cytologic screening. The coverage in this population was 27.96 (11,185/40,000), 8,187 women (73.2) had cytologic control at least previous two years, 652 (5.83) had more of four years without control and 2,346 (21) assisted for first time. The cytological diagnostic showed 189 abnormal Pap (1.68), and only 40 of them (21.16) had cytohistopatholgic pursuit and clinic treatment. According to these results we concluded that DOC program in Gomez Palacio, Durango has a deficiency of coverage (72.04) and pursuit (78.84). These results indicated the need for development institutional activities of prevention for increase efficiency of preventive services.

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

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