RESUMO
Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene can increase the risk of having a child with DS. Aim: This study aimed to evaluate the MTHFR 677C>T and 1298A>C variants as potential maternal risk factors for DS. Materials and Methods: Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis. Results: We found that MoIDS had a significantly higher risk for the MTHFR 677TT genotype (adjusted odds ratio [aOR] = 3.4, 95% confidence interval [95% CI]: 1.1-10.6), and the MTHFR 677T allele (aOR = 1.5, 95% CI: 1.0-2.3), particularly in MoIDS <35 years of age. Conclusions: Our findings indicate that the presence of the 677TT genotype and 677T allele of the MTHFR 677C>T variant are maternal risk factors for DS in Mexican MoIDS.
Assuntos
Alelos , Síndrome de Down , Predisposição Genética para Doença , Genótipo , Metilenotetra-Hidrofolato Redutase (NADPH2) , Mães , Polimorfismo de Nucleotídeo Único , Humanos , Síndrome de Down/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , México/epidemiologia , Feminino , Adulto , Lactente , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Predisposição Genética para Doença/genética , Estudos de Casos e Controles , Frequência do Gene/genética , Masculino , Gravidez , Razão de Chances , Recém-NascidoRESUMO
Patients with acute promyelocytic leukemia (APL) exhibit the t(15;17)(q24.1;q21.2) translocation that produces the promyelocytic leukemia (PML)/retinoic acid receptor α (RARA) fusion gene. Different PML breakpoints yield three alternative molecular transcripts, bcr1, bcr2 and bcr3. The present study reports the simultaneous presence of three PML/RARA transcripts in a pediatric female patient diagnosed with APL, according to the clinical characteristics, immunophenotype and karyotype of the patient. The simultaneous presence of the PML/RARA transcripts were detected using reverse transcription-quantitative PCR (RT-qPCR). This was confirmed with HemaVision-28N Multiplex RT-qPCR, HemaVision-28Q qualitative RT-qPCR and the AmpliSeq RNA Myeloid Panel. To the best of our knowledge, the pediatric patient described in the present study is the first case found to exhibit all three PML/RARA transcripts (bcr1, bcr2 and bcr3). Additionally, a microarray analysis was performed to determine the expression profile, potential predictive biomarkers and the implications of this uncommon finding. According to the information obtained from molecular monitoring, the results reported in the present study were associated with a good patient prognosis. In addition, upregulated genes that are rare in acute myeloid leukemia were identified, and these genes may be promising diagnostic biomarkers for further study. For example, CCL-1 is present in leukemic stem cells, causing treatment failure and relapse, and α- and ß-defensins have been reported exclusively in chronic myeloid leukemia. However, the results of the present study confirmed that they may also be present in APL. Thus, these findings suggested a possible signaling pathway that involves the PML/RARA oncoprotein in APL.
RESUMO
BACKGROUND: Prader Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders caused by deletions or methylation defects, making a loss of expression of imprinted genes located in the 15q11-q13 region, and these can be assessed by different cytogenomic and molecular techniques. We report a case series of patients with PWS and AS evaluated through the MS-MLPA assay. CLINICAL CASES: We studied four patients with a clinical diagnosis of PWS and another with AS, evaluated as far as possible with karyotype and FISH, and with MS-MLPA assay for the 15q11-q13 region in all cases. In patients with PWS, neonatal hypotonia was the main reason for consultation and in three of them we identified a deletion of 15q11-q13 by MS-MLPA, also confirmed by FISH; and in the other one, an abnormal methylation pattern consistent with a maternal uniparental disomy. The patient with AS presented with a typical picture which led to the identification of a deletion in 15q11-q13 by MS-MLPA, also confirmed by FISH. CONCLUSIONS: The use of the MS-MLPA assay for the 15q11-q13 region was very useful for the diagnosis and identification of the genomic and epigenetic defects involved in either PWS and AS.
INTRODUCCIÓN: el síndrome Prader-Willi (SPW) y el síndrome de Angelman (SA) son trastornos del neurodesarrollo producidos por deleciones o defectos de metilación que producen pérdida de expresión en los genes improntados de la región 15q11 q13, mismos que pueden ser evaluados por diferentes técnicas citogenómicas y moleculares. Presentamos una serie de pacientes con SPW y SA en los que se identificó el tipo de defecto de la región 15q11-q13 mediante la técnica de MS-MLPA. CASOS CLÍNICOS: estudiamos cuatro pacientes con diagnóstico clínico de SPW y uno con SA, evaluados en lo posible con cariotipo, FISH y todos con ensayo MS-MLPA para la región 15q11-q13. En los pacientes con SPW, la hipotonía neonatal fue el motivo principal de consulta. En tres de ellos se identificó deleción de 15q11-q13 por MS-MLPA, confirmada por FISH, y en uno el patrón de metilación anormal fue compatible con una disomía uniparental materna. El paciente con SA presentó un cuadró típico y también se identificó una deleción en 15q11-q13 por MS-MLPA, confirmada por FISH. CONCLUSIONES: confirmamos que el uso de la técnica de MS-MLPA para la región 15q11 q13 mostró ser de gran utilidad para identificar los mecanismos genómicos y epigenéticos implicados en el SPW y el SA.
Assuntos
Síndrome de Angelman , Síndrome de Prader-Willi , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Metilação de DNA , Humanos , Recém-Nascido , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Dissomia UniparentalRESUMO
Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our findings do not support that homozygosity or heterozygosity for the variants C677T and A1298C in the MTHFR gene are associated with NTDs in infants. However, since we have the highest worldwide frequency of homozygotes for the MTHFR C677T variant, we cannot rule out that our propensity for NTDs may be related to how such gene variant interacts with other factors, mainly with our secular patterns of inappropriate folate intake.
Assuntos
Metilenotetra-Hidrofolato Redutase (NADPH2) , Defeitos do Tubo Neural , Alelos , Ácido Fólico , Genótipo , Humanos , Lactente , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , México/epidemiologia , Defeitos do Tubo Neural/genéticaRESUMO
Half of the cases of pulmonary thromboembolism (PTE) are not diagnosed because of its unspecific clinical presentation; in Mexico, autopsy data reveal a similar incidence to that of developed countries. The objective of this work was to know the concordance between the clinical diagnosis of PTE at hospital discharge and its autopsy diagnosis. The method used was a retrospective cohort study of cases with PTE diagnosis who attended from January 2005 to December 2013. Information was obtained from the autopsies registry and clinical charts. From 177,368 hospital discharges, there were 412 (6.74%) with PTE diagnosis. There were 13,559 deaths, with PTE diagnosis in 139 (1%) patients. There were 479 autopsies, and in 66 (14%) of whom PTE diagnosis was documented, the mean age was 55 years (range, 18-89 years). The premortem diagnosis of PTE at discharge was confirmed in 412 cases. Postmortem diagnosis of principal disease was medical in 49 (74%) and medical-surgical in 17 (26%) patients. We found that nine patients had the clinical diagnosis of PTE, unlike the postmortem diagnosis, which was reported in 66 autopsies. The above allows establishing a 1:7 ratio that represents 14%. D-dimer was determined in 11 cases (16%) and was positive in 8 (73%). Thromboprophylaxis was applied in 15 cases (23%). The study of necropsies and identification of discrepancies is needed to improve the diagnostic accuracy and healthcare quality. The evaluation of hemostasis biomarkers besides D-dimer can better describe the pro-thrombotic state, the risk of thrombosis, and its association with morbidity and mortality.
Assuntos
Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Alta do Paciente , Embolia Pulmonar/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Autopsia , Biomarcadores/sangue , Causas de Morte , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Embolia Pulmonar/sangue , Embolia Pulmonar/mortalidade , Embolia Pulmonar/patologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Adulto JovemRESUMO
La apendicitis aguda es la inflamación aguda del apéndice cecal. Es la urgencia abdominal quirúrgica más importante a nivel mundial, contabilizándose 200 millones de apendicectomias por día, que continúa siendo el estándar de oro del tratamiento. La tasa de complicaciones de la cirugía se han reportado del 5 al 19% en apendicitis no complicada y hasta 30% en complicadas. El objetivo primario de este estudio es el de conocer los factores relacionados a la presentación de complicaciones locales y sistémicas en los pacientes intervenidos por cuadro de apendicitis aguda en la Unidad de Emergencia del Hospital Nacional Rosales en el periodo de enero a abril 2018. Se utilizó un diseño observacional analítico de casos y controles no apareados, a partir de la cohorte de sujetos apendicectomizados de urgencia por cuadro de apendicitis aguda en cualquiera de sus estadios en el periodo mencionado, utilizando fuentes documentales. Se identificaron 287 expedientes de pacientes apendicectomizados, de estos 63 presentaron morbilidad dando una tasa de morbilidad global del 22%. Los factores identificados como relacionados a la presentación de complicaciones fueron: edad media, tiempo de intervención quirúrgica, nivel académico del cirujano, tipo de incisión, fase de la apendicitis aguda. El 66.7% de las complicaciones fueron Clavien Dindo I. 8 pacientes requirieron reintervención quirúrgica y 4 de ellos en más de una ocasión. Se presentó una mortalidad del 0.3%. En el Hospital Nacional Rosales en el periodo de estudio se encontró una tasa de morbilidad del 22%
Assuntos
Apendicectomia , Cirurgia GeralRESUMO
Abstract: Background: Thyroid dysfunction has been associated with the development of obesity. There are few studies describing their status in Mexican schoolchildren, in whom obesity and subclinical hypothyroidism (SCH) prevail. Methods: Levels of stimulating thyroid hormone (TSH) and thyroid hormones (TH) were correlated with anthropometric variables as indicators of nutritional status in schoolchildren residents of Mexico City. The thyroid status and prevalences of SCH were compared between all the nutritional conditions, considering the degree of pubertal development. Results: The mean of TSH was 2.96 ± 1.48 mIU/L, and the prevalence of SCH was 11.30%. TSH levels are higher in prepubertal (5.21 ±1.24 mIU/L (95% confidence interval [CI]: 3.72-6.69) versus pubertal children (2.96 ± 1.48 mIU/L [95% CI: 2.61-3.30), as well as in children with obesity (3.5 ± 1.13 mIU/L [95% CI: 2.98-4.02]) versus normal weight children (2.43 ± 1.37 mIU/L [95% CI: 1.88 - 2.97]). The TH is similar in the whole population, although triiodothyronine total levels tend to be lower in malnourished children. There is a positive correlation between TSH levels and all anthropometric variables. The prevalences of SCH were higher in groups of children with overweight and obesity. Conclusions: The body fat content is associated with thyroid status in Mexican schoolchildren. In addition, it is relevant to consider the degree of pubertal development for diagnosing hyperthyrotropinemia in children and adolescents.
Resumen: Introducción: La disfunción tiroidea se ha asociado con el desarrollo de obesidad. Existen pocos estudios descritos en población escolar mexicana, en quienes prevalece la obesidad y el hipotiroidismo subclínico (HSC). Métodos: Los niveles de hormona estimulante de tiroides (TSH) y hormonas tiroideas (HT) se correlacionaron con variables antropométricas indicadoras del estado nutricional de niños escolares residentes de la Ciudad de México. El estado tiroideo y las prevalencias de HSC se compararon entre todas las condiciones nutricionales, considerando el grado de desarrollo puberal. Resultados: La media de TSH fue 2.96 ± 1.48 mUI/L, y la prevalencia de HSC fue de 11.30%. Los niveles de TSH fueron mayores en los niños prepúberes (5.21 ± 1.24 mUI/L [intervalo de confianza (IC) 95%: 3.72-6.69]) vs. los niños púberes (2.96 ± 1.48 mUI/L [IC 95%: 2.61-3.30); así como en los niños con obesidad (3.50 ± 1.13 mUI/L [IC 95%: 2.98-4.02]) vs. los niños con peso normal (2.43 ± 1.37 mUI/L [IC 95%: 1.88-2.97]). Los niveles de HT son similares en toda la población, aunque los niveles de triiodothyronine total (T3) tienden a ser menores en niños desnutridos. Existe correlación positiva entre los niveles de TSH y todas las variables antropométricas. Las prevalencias de HSC fueron mayores en los grupos de niños con sobrepeso y obesidad. Conclusiones: El contenido de grasa corporal está asociado con el estado tiroideo en escolares mexicanos. Adicionalmente, es relevante considerar el grado de desarrollo puberal para el diagnóstico adecuado de hipertirotropinemia en niños y adolescentes.
Assuntos
Criança , Feminino , Humanos , Masculino , Tireotropina/sangue , Transtornos da Nutrição Infantil/epidemiologia , Obesidade Infantil/epidemiologia , Hipotireoidismo/epidemiologia , Testes de Função Tireóidea , Hormônios Tireóideos/sangue , Tri-Iodotironina/sangue , Estado Nutricional , Prevalência , Estudos Transversais , MéxicoRESUMO
Background: Thyroid dysfunction has been associated with the development of obesity. There are few studies describing their status in Mexican schoolchildren, in whom obesity and subclinical hypothyroidism (SCH) prevail. Methods: Levels of stimulating thyroid hormone (TSH) and thyroid hormones (TH) were correlated with anthropometric variables as indicators of nutritional status in schoolchildren residents of Mexico City. The thyroid status and prevalences of SCH were compared between all the nutritional conditions, considering the degree of pubertal development. Results: The mean of TSH was 2.96 ± 1.48 mIU/L, and the prevalence of SCH was 11.30%. TSH levels are higher in prepubertal (5.21 ±1.24 mIU/L (95% confidence interval [CI]: 3.72-6.69) versus pubertal children (2.96 ± 1.48 mIU/L [95% CI: 2.61-3.30), as well as in children with obesity (3.5 ± 1.13 mIU/L [95% CI: 2.98-4.02]) versus normal weight children (2.43 ± 1.37 mIU/L [95% CI: 1.88 - 2.97]). The TH is similar in the whole population, although triiodothyronine total levels tend to be lower in malnourished children. There is a positive correlation between TSH levels and all anthropometric variables. The prevalences of SCH were higher in groups of children with overweight and obesity. Conclusions: The body fat content is associated with thyroid status in Mexican schoolchildren. In addition, it is relevant to consider the degree of pubertal development for diagnosing hyperthyrotropinemia in children and adolescents.
Introducción: La disfunción tiroidea se ha asociado con el desarrollo de obesidad. Existen pocos estudios descritos en población escolar mexicana, en quienes prevalece la obesidad y el hipotiroidismo subclínico (HSC). Métodos: Los niveles de hormona estimulante de tiroides (TSH) y hormonas tiroideas (HT) se correlacionaron con variables antropométricas indicadoras del estado nutricional de niños escolares residentes de la Ciudad de México. El estado tiroideo y las prevalencias de HSC se compararon entre todas las condiciones nutricionales, considerando el grado de desarrollo puberal. Resultados: La media de TSH fue 2.96 ± 1.48 mUI/L, y la prevalencia de HSC fue de 11.30%. Los niveles de TSH fueron mayores en los niños prepúberes (5.21 ± 1.24 mUI/L [intervalo de confianza (IC) 95%: 3.72-6.69]) vs. los niños púberes (2.96 ± 1.48 mUI/L [IC 95%: 2.61-3.30); así como en los niños con obesidad (3.50 ± 1.13 mUI/L [IC 95%: 2.98-4.02]) vs. los niños con peso normal (2.43 ± 1.37 mUI/L [IC 95%: 1.88-2.97]). Los niveles de HT son similares en toda la población, aunque los niveles de triiodothyronine total (T3) tienden a ser menores en niños desnutridos. Existe correlación positiva entre los niveles de TSH y todas las variables antropométricas. Las prevalencias de HSC fueron mayores en los grupos de niños con sobrepeso y obesidad. Conclusiones: El contenido de grasa corporal está asociado con el estado tiroideo en escolares mexicanos. Adicionalmente, es relevante considerar el grado de desarrollo puberal para el diagnóstico adecuado de hipertirotropinemia en niños y adolescentes.
Assuntos
Transtornos da Nutrição Infantil/epidemiologia , Hipotireoidismo/epidemiologia , Obesidade Infantil/epidemiologia , Tireotropina/sangue , Criança , Estudos Transversais , Feminino , Humanos , Masculino , México , Estado Nutricional , Prevalência , Testes de Função Tireóidea , Hormônios Tireóideos/sangue , Tri-Iodotironina/sangueRESUMO
An Gram negative strain of S. maltophilia, indigenous to environments contaminated by Cr(VI) and identified by biochemical methods and 16S rRNA gene analysis, reduced chromate by 100%, 98-99% and 92% at concentrations in the 10-70, 80-300, and 500 mg/L range, respectively at pH 7 and temperature 37 °C. Increasing concentrations of Cr(VI) in the medium lowered the growth rate but could not be directly correlated with the amount of Cr(VI) reduced. The strain also exhibited multiple resistance to antibiotics and tolerance and resistance to various heavy metals (Ni, Zn and Cu), with the exception of Hg. Hexavalent chromium reduction was mainly associated with the soluble fraction of the cell evaluated with crude cell-free extracts. A protein of molecular weight around 25 kDa was detected on SDS-PAGE gel depending on the concentration of hexavalent chromium in the medium (0, 100 and 500 mg/L). In silico analysis in this contribution, revealed the presence of the chromate reductase gene ChrR in S. maltophilia, evidenced through a fragment of around 468 bp obtained experimentally. High Cr(VI) concentration resistance and high Cr(VI) reducing ability of the strain make it a suitable candidate for bioremediation.
Assuntos
Proteínas de Bactérias/metabolismo , Cromo/metabolismo , Farmacorresistência Bacteriana Múltipla/genética , Oxirredutases/metabolismo , RNA Ribossômico 16S/genética , Stenotrophomonas maltophilia/efeitos dos fármacos , Antibacterianos/farmacologia , Proteínas de Bactérias/genética , Proteínas de Bactérias/isolamento & purificação , Biodegradação Ambiental , Cromo/farmacologia , Cobre/metabolismo , Cobre/farmacologia , Tolerância a Medicamentos , Expressão Gênica , Concentração de Íons de Hidrogênio , Testes de Sensibilidade Microbiana , Peso Molecular , Níquel/metabolismo , Níquel/farmacologia , Oxirredução , Oxirredutases/genética , Oxirredutases/isolamento & purificação , Filogenia , Stenotrophomonas maltophilia/classificação , Stenotrophomonas maltophilia/enzimologia , Stenotrophomonas maltophilia/genética , Temperatura , Zinco/metabolismo , Zinco/farmacologiaRESUMO
El presente artículo es producto de un estudio realizado con el propósito de sistematizar la información disponible relaciona¬da con la accesibilidad a los servicios de salud de la población reclusa en los centros penitenciarios de Colombia. Para ello, se hizo una revisión bibliográfica y recopilación sistemática del material académico disponible en las principales bibliotecas universitarias de la ciudad de Medellín, en bases de datos cien¬tíficas y en páginas electrónicas de organizaciones nacionales e internacionales que se han ocupado del tema. La información se sistematizó teniendo en cuenta algunos referentes históricos sobre centros penitenciarios y salud, el registro de experiencias en algunos países y la normatividad vigente para la atención en salud de la población reclusa en el caso colombiano. Se con¬cluye que a pesar de que se han realizado avances importantes para garantizar la atención en salud a la población reclusa, en los centros de reclusión aún persisten obstáculos y limitacio¬nes que vulneran el derecho a la salud de esta población. Asi¬mismo, se evidencia que este no ha sido considerado como un problema de salud pública en el país, por lo cual se considera un reto incorporarlo como tal.
This article is the result of a product of a study elaborated with the aim of systematizing the available information related to the accessibility to the health services of the prison popula¬tion in the penitentiary centers. To this end, we reviewed the literature and systematic collection of the academic available material in the principal university libraries in the city of Me¬dellin, scientific databases and the web pages of national and international organizations that have dealt with this topic. The information was systematized considering some histori¬cal references to prisons and health, the record of experiences in some countries and the current regulations for health care in the prison population in the Colombian case. We conclude that although significant progress has been made to ensure health care for the prison population, in the prison there are still obstacles and limitations that infringe the right to health of this population. Likewise, it is evidenced that it has not been considered a public health problem in the country, which it is considered a challenge to incorporate it as such.