Calpain-10 gene polymorphisms and risk of type 2 diabetes mellitus in Mexican mestizos.

The calpain-10 gene is expressed primarily in tissues important in glucose metabolism; thus, some of its polymorphisms have been associated with type 2 diabetes. In this study, we examined the association between the calpain-10 single-nucleotide polymorphism (SNP)-43, SNP-19, and SNP-63 and type 2 diabetes in Mexican mestizos. We included 211 patients and 152 non-diabetic subjects. Polymerase chain reaction was used to identify alleles. We compared allele, genotype, haplotype, and diplotype frequencies between both groups and used the chi-square test to calculate the risk. The allele frequency of SNP-43 allele 1 was 70% in controls and 72% in patients; the GG, GA, and AA genotype frequencies were 48.7, 42.8, and 8.5% in controls and 51.2, 41.7, and 7.1% in patients, respectively. For SNP- 19, the prevalence of allele 1 (2R) was 32% in controls and 39% in patients. In controls, homozygosity (2R/2R) was 10.5%, heterozygosity was 42.8%, and 3R/3R was 46.7%; in cases, these values were 13.3, 50.7, and 36.0%, respectively. For SNP-63, the frequency of allele 1 was 87% in controls and 83% in patients; genotype frequencies in controls were 75.7% (CC), 23% (CT), and 1.3% (TT), and were 69.7, 27.5, and 2.8%, respectively for the cases. Genotype distributions were consistent with Hardy-Weinberg equilibrium. No significant intergroup differences for allele, genotype, haplotype, or diplotype frequencies were observed. We found no association between these polymorphisms and diabetes. However, our sample size was small, so the role of calpain-10 risk alleles should be further examined.

MDR1 C3435T polymorphism in Mexican patients with breast cancer.

We investigated whether the MDR1 C3435T polymorphism is associated with fibrocystic changes (FCC), infiltrating ductal breast cancer (IDBC), and/or clinical-pathological features of IDBC in Mexican patients. Samples from women who received surgical treatment in 2007 at the Centro Médico de Occidente (México) were included in the analysis. Genotyping was performed by polymerase chain reaction-restricted fragment length polymorphisms in 64 paraffin-embedded breast samples with IDBC, 64 samples with FCC, and 183 peripheral blood samples of healthy females designated as the healthy group (HG). The frequency of the T allele was 41, 45, and 52% for the FCC, IDBC, and HG samples, respectively. Significant differences were only found between the FCC and HG samples [odds ratio (OR) = 0.64, 95% confidence interval (CI) = 0.43-0.96; P = 0.032]. The prevalence of the T/T genotype was 8, 13, and 24% for FCC, IDBC, and HG samples, respectively. Again, statistical differences were only found between FCC and HG samples for the T/T genotype (OR = 0.28, 95%CI = 0.106-0.77; P = 0.009). Although the T allele and the T/T genotype were less frequent in the IDBC group than in the HG, the differences were not significant. Furthermore, no associations were found between the C3435T polymorphism and clinical-pathological features of the IDBC group. Both the FCC and IDBC groups had a high frequency of the C allele relative to the HG in this sample of women from Western Mexico.

[Ministry of Health Intensive Care Medicine Commission: proposals for the development of the discipline]. / Medicina intensiva en Chile: desafíos para su desarrollo. Documento de la Comisión Nacional de Medicina Intensiva del Ministerio de Salud.

Intensive care medicine in Chile is still in its dawn. It has experienced a progressive growth in the last decade, but continues to be weak. Although investments in the discipline have increased fivefold, there is still a severe deficiency of intensive care specialists. This issue will represent a serious problem in the near future. The Ministry of Health gathered an expert committee to study the problem and propose solutions for the future development of the discipline.

Medicina intensiva en Chile: desafíos para su desarrollo. Documento de la Comisión Nacional de Medicina Intensiva del Ministerio de Salud / Ministry of Health Intensive Care Medicine Commission: Proposals for the development of the discipline

Intensive care medicine in Chile is still in its dawn. It has experienced a progressive growth in the last decade, but continues to be weak. Although investments in the discipline have increased fivefold, there is still a severe deficiency of intensive care specialists. This issue will represent a serious problem in the near future. The Ministry of Health gathered an expert committee to study the problem and propose solutions for the future development of the discipline.

MLH1 and XRCC1 polymorphisms in Mexican patients with colorectal cancer.

DNA repair proteins maintain DNA integrity; polymorphisms in genes coding for these proteins can increase susceptibility to colorectal cancer (CRC) development. We analyzed a possible association of MLH1 -93G>A and 655A>G and XRCC1 Arg194Trp and Arg399Gln polymorphisms with CRC in Mexican patients. Genomic DNA samples were obtained from peripheral blood of 108 individuals with CRC (study group) at diagnosis and 120 blood donors (control group) from Western Mexico; both groups were mestizos. The polymorphisms were detected by PCR-RFLP. Association was estimated by calculating the odds ratio (OR). We found that the MLH1 and XRCC1 polymorphisms were in Hardy- Weinberg equilibrium. The MLH1 655A>G polymorphism in the 655G allele was associated with a 2-fold increase risk for CRC (OR = 2.04 and 95% confidence interval (95%CI) = 1.12-3.69; P < 0.01), while the MLH1 -93G>A polymorphism allele was associated with a protective effect (OR = 0.60, 95%CI = 0.40-0.89; P = 0.01 in the -93A allele and OR = 0.32, 95%CI = 0.13-0.79; P = 0.01 in the AA genotype). The XRCC1 Arg194Trp and Arg399Gln polymorphisms did not show any significant associations. In conclusion, we found that MLH1 -93G>A and 655A>G polymorphisms are associated with CRC in Mexican patients.

XRCC1 polymorphisms and haplotypes in Mexican patients with acute lymphoblastic leukemia.

We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. All of them were genotyped for these polymorphisms, using polymerase chain reaction. No significant differences in allele and genotype frequencies for any polymorphism were observed between patients and controls. Estimation of haplotypes showed the eight expected haplotypes (A-H), seven of which were found in both patients and controls; haplotype A (Arg-Arg-Arg) was the most common, whereas haplotypes F and G were absent in patients and controls, respectively. Haplotype B (Trp-Arg-Arg) was found to be associated with an increased risk of ALL (odds ratio (OR) = 1.95, 95% confidence interval (CI) = 1.13-3.37; P = 0.016), particularly in males (OR = 2.65, 95%CI = 1.25-5.63; P = 0.01). Individually, the 194Trp, 280His, and 399Gln alleles were not associated with significantly increased risk for ALL in these Mexican children.

Los padres y la fiebre: ¿qué creen y hacen? / Parents and fever: what do they believe, and what do they do?

Introducción: La presencia de fiebre en el niño representa uno de los motivos más frecuentes de consulta en la práctica pediátrica diaria, y en ocasiones se convierte en una situación de temor y angustia para los padres que consideran la fiebre como el indicador más importante de que su hijo ha adquirido alguna infección seria, lo cual puede conllevar al uso inadecuado del sistema médico de atención y en especial de los servicios de urgencias.Objetivo: Determinar conocimientos, actitudes y prácticas de cuidadores de niños ante la fiebre.Material y Método: Se realizó un trabajo prospectivo, descriptivo de corte trasversal en los meses de julio y agosto del 2006. Fueron incluidos cuidadores de niños que consultaron en el Servicio de Urgencias Pediátricas del Hospital Central de Instituto de Previsión Social, independientemente de la causa que motivara la consulta. Se les proporcionó una encuesta de 26 preguntas de opciones cerradas, donde se midió conocimientos, actitudes y prácticas.Resultados: La mayoría de los encuestados fueron las madres. El nivel instructivo fue 47% secundaria completa, 37% universitarios. 90% conocía las cifras de temperatura consideradas normales.60% usa termómetro de mercurio para medir la temperatura, 33% usa el tacto. La creencia de los padres de que la fiebre ocasiona daño en el niño es generalizada, siendo los mayores daños principalmente convulsiones en 32, 6% y daño cerebral permanente en 12,6%. Este daño podría presentarse independientemente de la edad del niño. El baño (82%) fue el método más frecuente para bajar la fiebre, seguido de uso de fármacos, solos o combinados.Conclusiones: Los conocimientos y prácticas de los padres ante la fiebre de sus hijos fueron adecuados, aunque se precisan más acciones educativas ante las creencias del daño ocasionado por la misma.

Introduction: Fever in children is one of the most common reasons for presenting in daily pediatric practice, and can at times be a source of great anxiety for the parents, who may take the fever as a primary indicator of a serious infection and which may lead to inappropriate use of the healthcare system and emergency services in particular. Objective: To determine the state of knowledge, attitudes, and common practices of childcare providers faced with a feverish child. Materials and Methods:We carried out a prospective, descriptive, cross-sectional study during July and August of 2006. We included caregivers who presented with a child at the pediatric emergency department of the central hospital of the Instituto de Previsión Social (social insurance institute, or IPS) independently of the reason for presenting. They were given a survey including 26 closed option questions measuring their knowledge, attitudes, and practices. Results: Most respondents were mothers, while 47% had completed secondary school and 37% had completed an undergraduate university degree. The temperature considered normal was known by 90%, and 60% used a mercury thermometer for measuring the child's temperature while 33% detected fever using touch. The belief that fever causes harm to children is generalized; with the most commonly cited by parents being seizures (32.6%) and permanent brain damage (12.6%). This damage can occur independently of the age of the child. The most common methods for combating fever were bathing (82%) followed by use of medications alone or in combination. Conclusions: The knowledge and practices of parents confronting fever were adequate, although more education is required concerning beliefs about the harm caused by fever.

[Mortality risk factors in ventilator associated pneumonia]. / Factores de riesgo para mortalidad en neumonía asociada a ventilación mecánica.

OBJECTIVE: to identify lethality and mortality rates and, mortality risk factors in ventilator associated pneumonia (VAP) on 114 patients treated between 2000 and 2007. METHOD: Twenty five risk factors were analyzed, emphasizing age, gender, APACHE score, associated diseases, hypotension at intake, coma, hospitalization time, length of time of ventilation, emergency intubation, reintubation, previous antibiotics, and resistant microrganisms. RESULTS: Lethality was 25.4 %, and mortality was 2.4 %. Association between lethality, and APACHE score was found (p: 0.04). Critical APACHE value was 22. Also, in early pneumonia, association between lethality and nasogastric tube (p: 0.01, I.C. 95 % 1.39 - 6.35) was found. No association with late pneumonia was found among mortality and clinical practices. Death's RR (relative risk) increase in following values with: previous neurological disease 2.7 (p: 0.15, IC 95 % 1.15 - 6.5), neurological comaRR 2 (p: 0.2, IC 95 % 0.54 - 7.53). Nevertheless, at multivariate analysis no mortality risk factors were identified. Fair association with time in ICU (p: 0.051 IC 95 % 0.99 - 1.17) and, male sex (p: 0.051, IC 95 % 0.99 - 6.72) was found. CONCLUSIONS: We observed multiple factors associated to mortality in VAP: use of nasogastric catheter, longer stay in ICU and male sex.

Factores de riesgo para mortalidad en neumonía asociada a ventilación mecánica / Mortality risk factors in ventilator associated pneumonia

Objective: to identify lethality and mortality rates and, mortality risk factors in ventilator associated pneumonia (VAP) on 114 patients treated between 2000 and 2007. Method: Twenty five risk factors were analyzed, emphasizing age, gender, APACHE score, associated diseases, hypotension at intake, coma, hospitalization time, length of time of ventilation, emergeney intubation, reintubation, previous antibiotics, and resistant microrganisms. Results: Lethality was 25.4 percent, and mortality was 2.4 percent. Association between lethality, and APACHE score was found (p: 0.04). Critical APACHE valué was 22. Also, in early pneumonia, association between lethality and nasogastric tube (p: 0.01, I.C. 95 percent 1.39 - 6.35) was found. No association with late pneumonia was found among mortality and clinical practices. Death's RR (relative risk) increase in following valúes with: previous neurological disease 2.7 (p: 0.15, IC 95 percent 1.15 - 6.5), neurological comaRR2 (p: 0.2, IC 95 percent 0.54 - 7.53). Nevertheless, at multivariate analysis no mortality risk factors were identified. Fair association with time in ICU (p: 0.051 IC 95 percent 0.99 - 1.17) and, male sex (p: 0.051, IC 95 percent 0.99 - 6.72) was found. Conclusions: We observed múltiple factors associated to mortality in VAP: use of nasogastric catheter, longer stay in ICU and male sex.

Objetivo: Identificar la tasa de letalidad, mortalidad y factores de riesgo de mortalidad en neumonía asociada a ventilación mecánica (NAVM) en 114 pacientes de la cohorte 2000-2007. Se estudiaron 25 factores de riesgo del paciente y de las prácticas clínicas. Resultados: La tasa de letalidad fue 25,4 por ciento) y la tasa de mortalidad de 2,4 por ciento>. Se encontró asociación entre el puntaje APACHE al momento del diagnóstico de neumonía y mortalidad (p: 0,04). El valor crítico de APACHE de alto riesgo fue igual o mayor a 22. En neumonía precoz se identificó como factor de letalidad la presencia de sonda naso-gástrica (p: 0,01, IC 95 por ciento> 1,39-6,35). Para las variables categóricas no se encontró asociación significativa entre la exposición y mortalidad. El RR en presencia de enfermedad neurológica previa (accidente vascular encefálico) fue 2,7 (p: 0,15, IC 95 por ciento 1,15-6,5), coma al ingreso 2 (p: 0,2, IC 95 por ciento 0,54-7,53). En neumonía tardía, no se identificaron factores de riesgo asociados a la atención. El análisis multivariado de todas esas exposiciones no identificó factores significativos asociados a mortalidad. Identificamos una asociación débil con días de estada en UCI (p: 0,051 IC 95 por ciento 0,99-1,17) y sexo masculino (p: 0,051, IC 95 por ciento 0,99-6,72). Conclusiones: Los resultados muestran una relación multifactorial de prácticas clínicas y del paciente para fallecer por NAVM. Como factor de prácticas clínicas encontramos asociado a mortalidad el uso de sonda nasogástrica y mayor permanencia en UCI. Dependiente del paciente encontramos una débil asociación entre mortalidad y sexo masculino.

Micosis profunda en pacientes inmunosuprimidos / Deep mycoses in immunosupressed patients

Se reportan tres pacientes que presentaron cuadros de micosis profunda de tipo oportunista, asociados a tratamiento inmunosupresor por enfermedad difusa del tejido conectivo de fondo. En dos de los pacientes se diagnosticó aspergilosis. Uno de ellos es portador de artritis reumatoide en tratamiento con metotrexate, presentando un aspergiloma en columna lumbar; y la otra de lupus eritematoso sistémico con manifestaciones severas como hemorragia intraalveolar, compromiso hematológico y psicosis que condicionaron un tratamiento agresivo con ciclofosfamida, metilprednisolona y dosis altas de prednisona; y que en el curso de su evolución presentó un cuadro de aspergilosis retroorbitaria y etmoidal. El tercer caso correspondió a un paciente con diagnóstico de dermatomiositis, en tratamiento con dosis altas de prednisona, quien desarrolló un cuadro de criptococosis meníngea. Cabe resaltar el éxito en el tratamiento antimicótico y la buena evolución de los pacientes.

HTLV-I maternal transmission in Martinique, using serology and polymerase chain reaction.

We have investigated HTLV-I and HTLV-II infection in children born to HTLV-I-seropositive or indeterminate Western blot mothers in Martinique by using the polymerase chain reaction (PCR). Only HTLV-I and no HTLV-II-positive samples were found in this study. All the samples from HTLV-I-seropositive children and adults were PCR positive, whereas the four HIV-I-seropositive and Western blot HTLV-I-negative mothers and their eight children were all PCR negative. Therefore, PCR and serology were in complete agreement in these patients. However, two of the six mothers who were first indeterminate by Western blot, and who later became seronegative, were found positive by PCR. Of the 27 children (ages 2-12 years), born to HTLV-I-seropositive and PCR-positive mothers, 2 were seropositive and PCR positive, 5 were seronegative and PCR positive with 2 primer pairs in gag and pol, and 4 were seronegative and PCR positive with only 1 of the primer pairs. In contrast to an initial rate of transmission of 7% estimated by serology we found a rate of transmission of 28 to 41% (whether or not children who were positive with only one of the primer pairs were included). Thus, our study confirms that PCR is useful in detecting HTLV-I infection in children before seroconversion and underlines the potential lack of sensitivity of serology to detect contaminating HTLV-I blood units in endemic areas.