Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Diffuse large B-cell lymphoma (DLBCL) is the most common B-cell malignancy worldwide. Molecular classifications have tried to improve cure rates. We prospectively examined and correlated the mutational landscape with the clinical features and outcomes of 185 Mexican patients (median age 59.3 years, 50% women) with newly diagnosed DLBCL. A customized panel of 79 genes was designed, based on previous international series. Most patients had ECOG performance status (PS) < 2 (69.2%), advanced-stage disease (72.4%), germinal-center phenotype (68.1%), and double-hit lymphomas (14.1%). One hundred and ten (59.5%) patients had at least one gene with driver mutations. The most common mutated genes were as follows: TP53, EZH2, CREBBP, NOTCH1, and KMT2D. The median follow-up was 42 months, and the 5-year relapse-free survival (RFS) and overall survival (OS) rates were 70% and 72%, respectively. In the multivariate analysis, both age > 50 years and ECOG PS > 2 were significantly associated with a worse OS. Our investigation did not reveal any discernible correlation between the presence of a specific mutation and survival. In conclusion, using a customized panel, we characterized the mutational landscape of a large cohort of Mexican DLBCL patients. These results need to be confirmed in further studies.

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.

Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous heritable skin disorder, characterized by blistering of the skin and mucous membranes following minor trauma. Dominant (DDEB) and recessive (RDEB) forms are caused by pathogenic variants in COL7A1 gene. Argentina's population has a heterogeneous genetic background, and little is known about the molecular basis of DEB in our country or in native South American populations. In this study, we present the prevalence and geographical distribution of pathogenic variants found in 181 patients from 136 unrelated families (31 DDEB and 105 RDEB). We detected 95 different variants, 59 of them were previously reported in the literature and 36 were novel, nine of which were detected in more than one family. The most prevalent pathogenic variants were identified in exon 73 in DDEB patients and in exon 3 in RDEB patients. We also report a new phenotype-genotype correlation found in 10 unrelated families presenting mild blistering and severe mucosal involvement. Molecular studies in populations with an unexplored genetic background like ours revealed a diversity of pathogenic variants, and we hope that these findings will contribute to the definition of targets for new gene therapies.

Alteraciones cutáneas en neonatos que consultan en el departamento de urgencias pediátricas de un hospital público

RESUMEN Introducción: Los procesos dermatológicos pediátricos son problemas frecuentes a los que se enfrentan los pediatras durante la consulta Como tales debe estar familiarizados con las patologías cutáneas más comunes del recién nacido. Es de suma importancia realizar un diagnóstico correcto e instaurar una terapia adecuada para el futuro bienestar del niño que está iniciando su vida. Objetivo: Determinar la frecuencia y los tipos de alteraciones o lesiones cutáneas en neonatos que acuden al departamento de emergencias pediátricas de un hospital de referencia. Materiales y Métodos: Estudio observacional, descriptivo, prospectivo, transversal. Se evaluó neonatos que consultaron por lesiones en la piel en el Departamento de emergencias pediátricas de agosto a diciembre de 2018. Variables: Edad, sexo, procedencia, vía de nacimiento, edad gestacional, ingreso a la unidad de cuidados intensivos neonatales, tipo y extensión de las lesiones, síntomas asociados, y diagnósticos. Análisis de datos: SPSS v21 utilizando estadísticas descriptivas. Protocolo aceptado por el comité de ética institucional con consentimiento informado de los padres. Resultados: Fueron atendidos 416 neonatos, de los cuales 19,2% (N=80) consultaron por lesiones cutáneas, 32,5% (26/80) fueron pápulas, ampollas 1,3% (1/80), siendo 68,8% (55/80) localizadas. El diagnóstico de mayor frecuencia fue eritema tóxico en 21,3% (17/80). La fiebre estuvo asociada en 6,3% (5/80) a las infecciones de piel y un neonato presento sepsis bacteriana con puerta de entrada cutánea. Conclusiones: las lesiones cutáneas más frecuentes fueron las lesiones transitorias. El eritema toxico fue la alteración cutánea predominante. Las infecciones de piel se presentaron en el 25% % en neonatos

ABSTRACT Introduction: Pediatric dermatological processes are frequent problems that pediatricians face during consultation. As such, they must be familiar with the most common skin pathologies of the newborn. It is extremely important to make a correct diagnosis and establish an appropriate therapy for the future well-being of the child who is beginning his life. Objective: To determine the frequency and types of alterations or skin lesions in newborns who present to the pediatric emergency department of a reference hospital. Materials and Methods: This was an observational, descriptive, prospective and cross-sectional study. Newborns who consulted for skin lesions in the Pediatric Emergency Department from August to December 2018 were evaluated. Variables were age, sex, place of origin, route of birth, gestational age, admission to the neonatal intensive care unit, type and extension of injuries, associated symptoms, and diagnoses. Data analysis: SPSS v21 using descriptive statistics. Our protocol was accepted by the institutional ethics committee, parental informed consent was obtained. Results: 416 newborns were treated, of which 19.2% (N=80) consulted for skin lesions, 32.5% (26/80) were papules, blisters 1.3% (1/80), 68,8% (55/80) were localized findings. The most frequent diagnosis was toxic erythema in 21.3% (17/80). Fever was associated in 6.3% (5/80) with skin infections and one newborn presented with bacterial sepsis from a cutaneous entry portal. Conclusions: the most frequent skin lesions were transient lesions. Toxic erythema was the predominant cutaneous alteration. Skin infections occurred in 25% % in newborns.

Landscape of Germline Genetic Variants in AGT, MGMT, and TP53 in Mexican Adult Patients with Astrocytoma.

Astrocytoma is the most common type of primary brain tumor. The risk factors for astrocytoma are poorly understood; however, germline genetic variants account for 25% of the risk of developing gliomas. In this study, we assessed the risk of astrocytoma associated with variants in AGT, known by its role in angiogenesis, TP53, a well-known tumor suppressor and the DNA repair gene MGMT in a Mexican population. A case-control study was performed in 49 adult Mexican patients with grade II-IV astrocytoma. Sequencing of exons and untranslated regions of AGT, MGMT, and TP53 from was carried in an Ion Torrent platform. Individuals with Mexican Ancestry from the 1000 Genomes Project were used as controls. Variants found in our cohort were then assessed in a The Cancer Genome Atlas astrocytoma pan-ethnic validation cohort. Variants rs1926723 located in AGT (OR 2.74, 1.40-5.36 95% CI), rs7896488 in MGMT (OR 3.43, 1.17-10.10 95% CI), and rs4968187 in TP53 (OR 2.48, 1.26-4.88 95% CI) were significantly associated with the risk of astrocytoma after multiple-testing correction. This is the first study where the AGT rs1926723 variant, TP53 rs4968187, and MGMT rs7896488 were found to be associated with the risk of developing an astrocytoma.

Transitory response of a myelodysplastic syndrome with deletion of chromosome 5q to thalidomide. Report of one case

ABSTRACT Myelodysplastic syndrome with deletion of chromosome 5q (5q-syndrome) has a favorable prognosis and a low risk of transformation to acute myeloid leukemia, when treated with lenalidomide. Azacitidine leads to complete remission even as second-line therapy and in patients with clonal evolution. We report a 70 years old female without previous exposure to myelotoxic drugs, presenting with three weeks with fatigue and dyspnea. She had anemia with normal white blood cell and platelet count. Bone marrow biopsy showed 50% cellularity and the karyotype analysis revealed a (5) (q33q34) deletion in 22% of the metaphases. A diagnosis of 5q-syndrome with low risk calculated using the Revised International Prognostic Scoring System (IPSS-R), was made. Since lenalidomide was not affordable, thalidomide 100 mg/day was initiated, achieving transfusion independence for three years. Afterwards, she developed pancytopenia and a bone marrow biopsy showed erythroid and megakaryocyte dysplasia with a complex karyotype, which worsened prognosis (IPSS-R of five points). Therefore, azacitidine (by donation) was administered. She achieved complete remission with a normal karyotype and completed 12 cycles of treatment. Thereafter, she relapsed and received only supportive care for a year. She suffered an ischemic stroke and died two weeks later.

El síndrome mielodisplásico con deleción del cromosoma 5q (síndrome 5q) tiene un pronóstico favorable y riesgo bajo de transformación a leucemia aguda en pacientes que son tratados con lenalidomida (tratamiento estándar). El uso Azactidina tiene respuestas completas incluso como segunda línea de tratamiento en pacientes con evolución clonal. Presentamos una mujer de 71 años, sin exposición a mielotóxicos que debutó con un síndrome anémico. Se realizó biopsia de medula ósea que mostró celularidad del 50% y en el análisis citogenético se detectó una deleción del cromosoma 5 en 22% de las metafases analizadas, lo que llevó al diagnóstico de Síndrome 5q- de riesgo bajo de acuerdo con el puntaje IPSS-R (Revised International Prognostic Scoring System). Ya que no se pudo costear lenalidomida, se trató con talidomida (100 mg/día). Permaneció tres años sin requerir soporte transfusional. Posteriormente, presentó pancitopenia y en el nuevo aspirado de médula ósea se observó displasia de la serie roja y megacariocitos, con cariotipo complejo y peor pronóstico (IPSS-R 5 puntos). Se trató con 12 ciclos de azacitidina con lo que logró respuesta completa. Recayó 12 meses después y continuó manejo de soporte por un año. Finalmente falleció debido a un accidente vascular cerebral.

Síndrome inflamatorio multisistémico en niños asociado al SARS-CoV-2

RESUMEN En general la afectación del Covid 19 en niños es leve o asintomática. Un porcentaje pequeño de pacientes requirieron ingreso a la Unidad de cuidados intensivos pediátricos. Se reporta el caso de un paciente pediátrico hospitalizado en Unidad de Cuidados Intensivos de un hospital pediátrico, en el contexto de la pandemia SARS-CoV-2, que requirió ingreso a la UCI por presentar un shock tóxico, con marcadores inflamatorios, reactantes de fase aguda elevados y manifestaciones clínicas que corresponden al Síndrome Inflamatorio Multisistémico descripto recientemente y relacionado a la infección por COVID-19.

ABSTRACT In general, Covid 19 infection in children is mild or asymptomatic. A small percentage of patients require admission to the Pediatric Intensive Care Unit. We report the case of a pediatric patient hospitalized in the Intensive Care Unit of a pediatric hospital, in the context of the SARS-CoV-2 pandemic, who required admission to the ICU due to toxic shock, with elevation of inflammatory markers and acute phase reactants, along with clinical manifestations that corresponded to the recently described Multisystemic Inflammatory Syndrome related to COVID-19 infection.

A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.

BACKGROUND: Kindler syndrome is a rare genodermatosis. Major clinical criteria include acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. METHODS: FERMT1 gene was sequenced in 5 patients with a clinical diagnosis of Kindler syndrome. RESULTS: We report a novel pathogenic variant detected in four unrelated families of Paraguayan origin, where one nucleotide deletion in FERMT1 gene (c.450delG) is predicted to cause a frameshift mutation leading to loss of function. Haplotype analysis revealed the propagation of an ancestral allele through this population. CONCLUSIONS: The identification of this recurrent pathogenic variant enables optimization of molecular detection strategies in our patients, reducing the cost of diagnosis.

Transitory response of a myelodysplastic syndrome with deletion of chromosome 5q to thalidomide. Report of one case.

Myelodysplastic syndrome with deletion of chromosome 5q (5q-syndrome) has a favorable prognosis and a low risk of transformation to acute myeloid leukemia, when treated with lenalidomide. Azacitidine leads to complete remission even as second-line therapy and in patients with clonal evolution. We report a 70 years old female without previous exposure to myelotoxic drugs, presenting with three weeks with fatigue and dyspnea. She had anemia with normal white blood cell and platelet count. Bone marrow biopsy showed 50% cellularity and the karyotype analysis revealed a (5) (q33q34) deletion in 22% of the metaphases. A diagnosis of 5q-syndrome with low risk calculated using the Revised International Prognostic Scoring System (IPSS-R), was made. Since lenalidomide was not affordable, thalidomide 100 mg/day was initiated, achieving transfusion independence for three years. Afterwards, she developed pancytopenia and a bone marrow biopsy showed erythroid and megakaryocyte dysplasia with a complex karyotype, which worsened prognosis (IPSS-R of five points). Therefore, azacitidine (by donation) was administered. She achieved complete remission with a normal karyotype and completed 12 cycles of treatment. Thereafter, she relapsed and received only supportive care for a year. She suffered an ischemic stroke and died two weeks later.

Algunos aspectos clínicos-epidemiológicos de la enfermedad de Hansen en el municipio Yara, Granma, 2013-2017 / Some clinical-epidemiological aspects of Hansen's disease in the Yara municipality. Granma, 2013-2017

La lepra es una enfermedad transmisible tan antigua como el hombre mismo. Se realizó un estudio descriptivo retrospectivo, para caracterizar algunos aspectos clínicos-epidemiológicos de la lepra, en el período 2013–2017, Municipio Yara, Provincia, Granma. El universo estuvo constituido por 13 pacientes notificados y registrados con la enfermedad. Se confeccionó una planilla que recogió las variables clínicas-epidemiológicas: edad, sexo, y formas clínicas (Según Madrid y operacional o sanitaria), se utilizó el método estadístico de por cientos para el procesamiento de los datos. El año de mayor incidencia de la enfermedad fue 2014, el grupo etáreo 60-74 años aporto el mayor número de casos, el sexo masculino fue el más representativo, las formas clínicas según la clasificación de Madrid, predominante fue lepra lepromatosa, de acuerdo a la operacional, los multibacilares. La pesquisa activa y diagnóstico oportuno de la lepra podría disminuir la aparición de sus complicaciones y la invalidez que causa(AU)

The leprosy is a transmissible disease so ancient like the man per se. A descriptive retrospective study, in order to characterize some clinical epidemiologic aspects of the leprosy in the period, accomplished 2013 it self–2017, Municipio Yara, Provincia, Granma. The universe was constituted for 13 patients notified and registered with the disease. A payroll that gathered the clinical epidemiologic variables was manufactured: Age, sex, and clinical forms (According To Madrid and operational or sanitary), you utilized the statistical method of by the hundreds for the processing of the data. The year of bigger incidence of the disease was 2014, the group etáreo 60-74 years I contribute the bigger number of cases, the masculine sex was the more representative, the clinical forms according to the classification of Madrid, prevailing lepromatosa, according to the operational the multi-bacillar was leprosy. The active investigation and opportune diagnosis of the leprosy would be able to decrease the appearing of his complications that it causes and the invalidity(EU)

Algunos aspectos clínicos-epidemiológicos de la enfermedad de Hansen en el municipio Yara .Granma. 2013-2017 / Some clinical-epidemiological aspects of Hansen's disease in the Yara municipality. Granma. 2013-2017

RESUMEN La lepra es una enfermedad transmisible tan antigua como el hombre mismo. Se realizó un estudio descriptivo retrospectivo, para caracterizar algunos aspectos clínicos-epidemiológicos de la lepra, en el período 2013 - 2017, Municipio Yara, Provincia, Granma. El universo estuvo constituido por 13 pacientes notificados y registrados con la enfermedad. Se confeccionó una planilla que recogió las variables clínicas-epidemiológicas: edad, sexo, y formas clínicas (Según Madrid y operacional o sanitaria), se utilizó el método estadístico de por cientos para el procesamiento de los datos. El año de mayor incidencia de la enfermedad fue 2014, el grupo etáreo 60-74 años aporto el mayor número de casos, el sexo masculino fue el más representativo, las formas clínicas según la clasificación de Madrid, predominante fue lepra lepromatosa, de acuerdo a la operacional, los multibacilares. La pesquisa activa y diagnóstico oportuno de la lepra podría disminuir la aparición de sus complicaciones y la invalidez que causa.

ABSTRACT The leprosy is a transmissible disease so ancient like the man per se. A descriptive retrospective study, in order to characterize some clinical epidemiologic aspects of the leprosy in the period, accomplished 2013 itself - 2017, Municipio Yara, Provincia, Granma. The universe was constituted for 13 patients notified and registered with the disease. A payroll that gathered the clinical epidemiologic variables was manufactured: Age, sex, and clinical forms (According To Madrid and operational or sanitary), you utilized the statistical method of by the hundreds for the processing of the data. The year of bigger incidence of the disease was 2014, the group etáreo 60-74 years I contribute the bigger number of cases, the masculine sex was the more representative, the clinical forms according to the classification of Madrid, prevailing lepromatosa, according to the operational the multi-bacillar was leprosy. The active investigation and opportune diagnosis of the leprosy would be able to decrease the appearing of his complications that it causes and the invalidity.

Factores relacionados con la adherencia al tratamiento farmacológico para el VIH/SIDA / Factors related to adherence to pharmacological treatment for HIV/AIDS

Resumen Objetivo: Establecer la prevalencia de adherencia al tratamiento farmacológico y sus factores relacionados en personas diagnosticadas con VIH/sida en una institución de salud de la ciudad de Cali (Colombia). Método: El estudio fue observacional transversal. La muestra estuvo compuesta por 127 pacientes con VIH/sida, bajo tratamiento antirretroviral, controlados en una institución de salud, seleccionados aleatoriamente. Para la medición de la variable "resultado" (adherencia al tratamiento farmacológico) se utilizó el Cuestionario de adherencia al tratamiento para el VIH/sida. Para la medición de las variables de exposición (factores personales, de la enfermedad y el tratamiento, sociales-interpersonales y del sistema de salud) se utilizó un cuestionario de autorreporte construido para el estudio y un formato de datos de la historia clínica del paciente. Resultados: La prevalencia de adherencia al tratamiento farmacológico fue de 84 %. El análisis de los factores relacionados con la adherencia muestra que tienen menor oportunidad de estar adheridos al tratamiento farmacológico quienes son menores de 40 años, de estrato socioeconómico bajo, perciben barreras para el tratamiento, toman más de 4 pastillas diarias y las mujeres con pareja o hijos diagnosticados con VIH/sida. Conclusiones: Los resultados del estudio señalan algunos lineamientos para direccionar las intervenciones que buscan mejorar la adherencia farmacológica con el fin de controlar la infección, promover la calidad de vida de los pacientes, disminuir el impacto social y el costo económico de su manejo y complicaciones.

Abstract Objective: To establish prevalence of adherence to pharmacological treatment and its related factors in HIV/AIDS diagnosed patients from a health care center in Cali (Colombia). Method: The study design was observational cross-sectional. The sample was composed of 127 HIV/AIDS diagnosed patients under antiretroviral treatment controlled at a health care center, randomly sampled. The Adherence to Treatment for HIV/AIDS Questionnaire was used in order to assess the output variable (adherence to pharmacological treatment). To measure the exposition variables (personal, illness and treatment, social and health care system factors) a self-report questionnaire and a medical history format were designed. Results: The prevalence of pharmacological treatment adherence was 84%. The analysis of the adherence related factors show that patients with less opportunity to adhere to pharmacological treatment were those younger than 40 years old, of low socio-economic status, who perceive any barrier for treatment, taking more than 4 antiretroviral tablets daily, and those women with HIV infected partner or child. Conclusions: The results of the study show an outline to redirect interventions aimed to improved adherence to pharmacological treatment in order to control the infection, promote patients' quality of life, diminish the social impact and the economic cost of its manage and its complications.

Acetylator status and N-acetyltransferase 2 gene polymorphisms; phenotype-genotype correlation with the sulfamethazine test.

N-acetyltransferase 2 (NAT2) catalyzes the bioactivation and/or detoxification of drugs and carcinogens. The aim of this study was to establish the correlation between the NAT2 genotype and the acetylating phenotype in a Mexican population using sulfamethazine as a probe. From a total of 122 individuals, 73 (59.8%) were slow and 49 (40.2%) were fast acetylators. Eleven individuals (9%) had the wild-type genotype (NAT2*4/NAT2*4). The most frequent genotype was NAT2*4/NAT2*5B observed in 20.66% of individuals. In conclusion, our results show that an accurate prediction of the acetylation phenotype by genotyping can be achieved in around half of the population. Further studies with a larger number of individuals are required to establish correlations between phenotype and genotype in half of that patients having a genotype combined with slow/rapid alleles.

Importancia del chequeo oftalmológico en edades tempranas / Importance of the ophthalmologic check in early ages

En una Jornada Científica donde se expuso un trabajo seguido con un niño ambliope en que se demostraba cómo la atención al niño en edad temprana erradicó la anomalía de que era portador, los participantes consideraron necesario que se divulgara la importancia del chequeo oftalmológico en las edades tempranas. Dando cumplimiento a dicho reclamo, presentamos este trabajo, con él que nos proponemos hacer conscientes a los adultos mayores: padres, abuelos, tíos o tutores de niños en edades tempranas (desde su nacimiento hasta aproximadamente los 4 años) de la importancia de un chequeo oftalmológico para diagnosticar la normalidad o anomalías que con tratamiento a tiempo pueden eliminarse o al menos mejorarse. Consta de una exposición sobre el desarrollo de la visión, donde se señalan las anomalías oftalmológicas que pueden presentarse en los niños de corta edad que al ser diagnosticadas a tiempo pueden ser tratadas para su rehabilitación visual y la vía a seguir a partir de lo detectado, así como también la forma en que se atienden dichos niños en nuestro país(AU)

In a scientific journey where an amblyopic child was exposed, it was shown as the attention of the child in an early age eradicated the anomaly. The present members considered necessary the divulgation of the importance of the ophthalmologic check in early ages. Considering that claim, we present this article in which we intend make conscious the adults that are near to children of early age (since birth up to 4 years approximately) of the importance of the ophthalmologic check. The article includes an exposition about the development of visión in which we point out ophthalmological anomalies that may be evident in young children who, if diagnosed early, may be treated, the guidance on steps to follow once an anomaly is detected, and the care we have with our children in special schools of our country(AU)

Importancia del chequeo oftalmológico en edades tempranas / Importance of the ophthalmologic check in early ages

En una Jornada Científica donde se expuso un trabajo seguido con un niño ambliope en que se demostraba cómo la atención al niño en edad temprana erradicó la anomalía de que era portador, los participantes consideraron necesario que se divulgara la importancia del chequeo oftalmológico en las edades tempranas. Dando cumplimiento a dicho reclamo, presentamos este trabajo, con él que nos proponemos hacer conscientes a los adultos mayores: padres, abuelos, tíos o tutores de niños en edades tempranas (desde su nacimiento hasta aproximadamente los 4 años) de la importancia de un chequeo oftalmológico para diagnosticar la normalidad o anomalías que con tratamiento a tiempo pueden eliminarse o al menos mejorarse. Consta de una exposición sobre el desarrollo de la visión, donde se señalan las anomalías oftalmológicas que pueden presentarse en los niños de corta edad que al ser diagnosticadas a tiempo pueden ser tratadas para su rehabilitación visual y la vía a seguir a partir de lo detectado, así como también la forma en que se atienden dichos niños en nuestro país.

In a scientific journey where an amblyopic child was exposed, it was shown as the attention of the child in an early age eradicated the anomaly. The present members considered necessary the divulgation of the importance of the ophthalmologic check in early ages. Considering that claim, we present this article in which we intend make conscious the adults that are near to children of early age (since birth up to 4 years approximately) of the importance of the ophthalmologic check. The article includes an exposition about the development of visión in which we point out ophthalmological anomalies that may be evident in young children who, if diagnosed early, may be treated, the guidance on steps to follow once an anomaly is detected, and the care we have with our children in special schools of our country.

Transcriptional changes induced by epigenetic therapy with hydralazine and magnesium valproate in cervical carcinoma.

Aberrant DNA methylation and histone deacetylation participate in cancer development and progression; hence, their reversal by inhibitors of DNA methylation and histone deacetylases is a promising cancer therapy. Experimental data demonstrate that these inhibitors in combination do not only show synergy in antitumor effects but also in whole genome global expression. Ten pairs of pre- and post-treatment cervical tumor samples were analyzed by microarray analysis. Treatment for seven days with hydralazine and valproate (HV) in patients up-regulated 964 genes. The two pathways possessing the highest number of up-regulated genes comprised the ribosome protein and the oxidative phosphorylation pathways, followed by MAPK signaling, tight junction, adherens junction, actin cytoskeleton, cell cycle, focal adhesion, apoptosis, proteasome, Wnt signaling, and antigen processing and presentation pathways. Up-regulated genes by HV, clustered with down-regulated genes in untreated primary cervical carcinomas and were more alike as compared with up-regulated genes from untreated patients in terms of gene ontology. Increased acetylated p53 was also observed. Epigenetic therapy with HV leads to gene reactivation in primary tumors of cervical cancer patients as well as protein acetylation. A number of these reactivated genes have a definitive role as a tumor suppressors. The global expression pattern induced by HV suggests this therapy has an impact on pathways related to energy production which may promote apoptosis.

Percepción del impacto del vertedero final de basuras en la salud y en el ambiente físico y social en Cali / Impact perception on health, social and physical environments of the municipal solid waste disposal site in Cali

Objetivo Describir el impacto auto-percibido en la salud y en el ambiente físico y social entre la población residente aledaña al vertedero de Navarro, el cual recibe los desechos de la ciudad de Cali. Metodología Se llevó a cabo un estudio cualitativo, entre febrero-noviembre de 2006, para explorar las vivencias de los residentes de las zonas aledañas al vertedero de basuras de Navarro. Participaron 16 personas con posición de liderazgo en sus comunidades. Se llevaron a cabo 7 entrevistas individuales semi-estructuradas y un grupo focal con 9 participantes. Se realizó un análisis temático, con el apoyo de redes temáticas, para identificar patrones recurrentes relacionados con la experiencia de vivir cerca del lugar de disposición final de basuras de Cali. Resultados Los participantes en el estudio perciben que los malos olores provenientes del vertedero de Navarro ocasionan principalmente enfermedades respiratorias. Además, se ha creado un estigma de lugar debido a los malos olores, las moscas y a la visibilidad de las basuras. Conclusión No sólo se auto-perciben los efectos del vertedero de basuras de Navarro en la salud física; sino, además, que debido al estigma de lugar se afecta el ambiente físico y social de la población que vive en la zona aledaña al vertedero.

Objective Describing the self-perceived impact on health of people living near to a solid waste disposal site in Cali and on their physical and social environments. Methods In addition to a cohort study, qualitative research was carried out to explore experiences amongst 16 residents in leadership positions in their communities. Seven semi-structured interviews and one focus group were conducted. Thematic analysis was developed using thematic networks to identify recurrent patterns related to theexperience of living in proximity to the solid waste disposal dump. Results Participants perceived respiratory health problems as mainly arising from the sickening odours emanating form the Navarro dump. The area has also developed a bad reputation (“stigma”) because of the exasperating odours, flies and the close view of waste disposal. Conclusions Participants perceived the Navarro dump had a negative impact on their physical health and also that its bad reputation in the neighbourhood had effects on the social and physical environment of people living close to the solid waste disposal dump.

[Impact perception on health, social and physical environments of the municipal solid waste disposal site in Cali]. / Percepción del Impacto del Vertedero Final de Basuras en la Salud y en el Ambiente Físico y Social en Cali.

OBJECTIVE: Describing the self-perceived impact on health of people living near to a solid waste disposal site in Cali and on their physical and social environments. METHODS: In addition to a cohort study, qualitative research was carried out to explore experiences amongst 16 residents in leadership positions in their communities. Seven semi-structured interviews and one focus group were conducted. Thematic analysis was developed using thematic networks to identify recurrent patterns related to theexperience of living in proximity to the solid waste disposal dump. RESULTS: Participants perceived respiratory health problems as mainly arising from the sickening odours emanating form the Navarro dump. The area has also developed a bad reputation ("stigma") because of the exasperating odours, flies and the close view of waste disposal. CONCLUSIONS: Participants perceived the Navarro dump had a negative impact on their physical health and also that its bad reputation in the neighbourhood had effects on the social and physical environment of people living close to the solid waste disposal dump.

Incontinencia pigmenti: comunicación de un caso y revisión de la literatura / Incontinentia pigmenti: case report and literature review

La incontinencia pigmenti es una genodermatosis de herencia dominante ligada al cromosoma X, generalmente letal intra-útero en varones. Se caracteriza por lesiones cutáneas y afectación de otros órganos como ojos, dientes, uñas, pelo y sistema nervioso central. Presentamos el caso de una niña de un año de edad, sin antecedentes familiares, con lesiones clásicas de piel de incontinencia pigmenti y afectación de ojos y pelo

Incontinentia pigmenti is an X-linked dominant genodermatosis, generally lethal in-utero in males. It is characterized by cutaneus lesions associated to dental, ocular, nail, hair and central nervous system affection. We describe the case report of a 1-year girl, without family history, with the classic skin lesions and eye and hair involvement

Thiopurine S-methyltransferase gene (TMPT) polymorphisms in a Mexican population of healthy individuals and leukemic patients.

Polymorphisms at the thiopurine S-methyltransferase coding gene (TPMT) determine enzyme activity and consequently, the development of toxicity secondary to thiopurines. Methods A total of 108 DNA samples from volunteer donors and 39 from patients with acute lymphoblastic leukemia (ALL) were analyzed. Genomic DNA from peripheral blood leukocytes was isolated by standard methods. TPMT gene fragments were amplified by PCR for exons 5, 7, and 10. Thereafter, these were analyzed by DHPLC for the most frequent mutant TPMT alleles. Results No elution profiles on DHPLC analysis, different from those previously reported, were documented. Frequency of functional allele polymorphisms was 17.6%, being the most frequent *3A (n = 13; 4.4%), followed by *3B (n = 5; 1.7%), *3C (n = 5; 1.7%), and *2 (n = 3; 1.0%). From 39 ALL patients, 22 were treated with thiopurines, and five from 10 with a functional polymorphism developed hematological toxicity (4 mild, 1 severe in a patient referred to our Hospital after developing pancytopenia while on treatment with thiopurine). Conclusions This is the first analysis of the polymorphisms at this gene in Mexican population. Since a direct relation has been documented within functional polymorphisms and enzyme activity, and DHPLC is a highly sensitive, rapid and efficient method, feasible to realize in any phase during the treatment of ALL patients, the routine typing of TPMT polymorphisms in the patients with ALL has been set in our Institution.