Application of the Yamanaka Transcription Factors Oct4, Sox2, Klf4, and c-Myc from the Laboratory to the Clinic.

The transcription factors Oct4, Sox2, Klf4, and c-Myc enable the reprogramming of somatic cells into induced pluripotent cells. Reprogramming generates newly differentiated cells for potential therapies in cancer, neurodegenerative diseases, and rejuvenation processes. In cancer therapies, these transcription factors lead to a reduction in the size and aggressiveness of certain tumors, such as sarcomas, and in neurodegenerative diseases, they enable the production of dopaminergic cells in Parkinson's disease, the replacement of affected neuronal cells in olivopontocerebellar atrophy, and the regeneration of the optic nerve. However, there are limitations, such as an increased risk of cancer development when using Klf4 and c-Myc and the occurrence of abnormal dyskinesias in the medium term, possibly generated by the uncontrolled growth of differentiated dopaminergic cells and the impairment of the survival of the new cells. Therefore, the Yamanaka transcription factors have shown therapeutic potential through cell reprogramming for some carcinomas, neurodegenerative diseases, and rejuvenation. However, the limitations found in the studies require further investigation before the use of these transcription factors in humans.

Strangulated prolapsed ureterocele in an adult female.

Ureterocele is a cystic dilation of the distal ureter that exits into the urinary bladder. It is a rare condition in adults of which women are the most affected. Its clinical manifestations are very broad and among them the presence of a vulvar mass and symptoms of urinary obstruction stand out. We report the case of a strangulated ureterocele prolapse in a 54-year-old woman with a vulvar mass and signs of urinary obstruction. Initial management with reduction of the mass and finally decided to perform a ureteral reimplantation. Favorable evolution in medical follow-up.

Physachenolide C is a Potent, Selective BET Inhibitor.

A pulldown using a biotinylated natural product of interest in the 17ß-hydroxywithanolide (17-BHW) class, physachenolide C (PCC), identified the bromodomain and extra-terminal domain (BET) family of proteins (BRD2, BRD3, and BRD4), readers of acetyl-lysine modifications and regulators of gene transcription, as potential cellular targets. BROMOscan bromodomain profiling and biochemical assays support PCC as a BET inhibitor with increased selectivity for bromodomain (BD)-1 of BRD3 and BRD4, and X-ray crystallography and NMR studies uncovered specific contacts that underlie the potency and selectivity of PCC toward BRD3-BD1 over BRD3-BD2. PCC also displays characteristics of a molecular glue, facilitating proteasome-mediated degradation of BRD3 and BRD4. Finally, PCC is more potent than other withanolide analogues and gold-standard pan-BET inhibitor (+)-JQ1 in cytotoxicity assays across five prostate cancer (PC) cell lines regardless of androgen receptor (AR)-signaling status.

Paciente adulto con alteraciones cardiacas secundarias a enfermedad de Fabry / An adult patient with heart abnormalities secondary to Fabry disease

Resumen Introducción: La enfermedad de Fabry es una entidad crónica, progresiva, poco frecuente, de origen genético y patrón de herencia recesivo ligado al cromosoma X. Se caracteriza por déficit enzimático de alfa-galactosidasa causado por mutaciones en el gen GLA, lo que produce almacenamiento anormal de esfingolípidos celulares y tisulares Caso clínico: Se describe el caso de un paciente de 53 años, con antecedente familiar y compromiso cardíaco predominante, dado por hipertrofia ventricular izquierda, arritmias auriculares e insuficiencia cardiaca congestiva secundaria, quien, adicionalmente, tiene manifestaciones multisistémicas que han evolucionado desde la infancia. Entre los pilares de tratamiento requirió implantación definitiva de marcapasos y terapia de reemplazo enzimático. Conclusiones: La enfermedad de Fabry es una entidad de compromiso sistémico y progresivo, de baja prevalencia, cuya importancia se debe reflejar en el entrenamiento del personal de salud para el adecuado diagnóstico, con miras a mejorar la calidad de vida de los pacientes.

Abstract Introduction: Fabry’s disease is a chronic, progressive and a multisystemic disease of genetic origin, with a recessive pattern of inheritance tied to the X chromosome, characterized by the lisosomal deposit of globotriaosylceramide as a consequence of a deficiency in the activity of the alpha-galactosidase A enzyme. Clinical case: We present a clinical case of a 53-year old male patient carrying this disease with family history of Fabry’s disease, who suffers cardiac compromise as the main clinical manifestation. He is a patient who required the implantation of a permanent pacemaker and enzyme replacement therapy. Conclusions: Fabry´s disease is a systemic and progressive disease, low fre-quency, and not well known by the health personnel, which implies a late diagnosis, being the cardiac compromise the second in frequency after renal compromise, which can lead to the patient to a hypertrophic cardiomyopathy and a rhythm and cardiac conduction disorder.

Daltonismo racional / Rational Daltonism / Daltonismo Racional

Con la técnica de aerografía sobre madera, se crea la obra "Daltonismo Racional", composición planteada en orden cartesiano, iniciando en el plano izquierdo superior con el panel rojo de línea totalmente quebrada, en constante zigzag, seguido a la derecha por el panel verde con gráfico de cigarrillo humeante; luego, en el sector izquierdo debajo del panel rojo encontramos el panel verde con la botella de licor y, finalmente, en la zona derecha inferior hallamos el panel con el gráfico del monitor rojo y línea blanca horizontal. Respecto a sus dimensiones, corresponde a un políptico conformado por cuatro módulos cuadrados, de 36 cm x 36 cm x 7 cm de profundidad. Entre los módulos hay un espacio de 20 cm, lo cual permite la formación de una cruz, por los dos espacios cruzados perpendicularmente. La obra tiene un carácter contestatario, frente a la manera como se pretende financiar la salud pública, debido a que los impuestos generados por la venta y consumo de alcohol y cigarrillos, se destinan para la salud, lo que nos lleva a una paradoja: ¿es razonable pensar que a través del detrimento de la salud de las personas que consumen licores y cigarrillos, se intente solucionar los problemas de salud?, ¿no es acaso la prevención y el no consumo de estas sustancias, lo que nos permite cultivar un mejor estado de salud?

With the technique of airbrushing on wood, the work "Rational Daltonism" is created. This is laid out in Cartesian order, starting on the upper left plane with the red panel with a totally broken line, in constant zigzag, followed to the right by the green panel with a graphic of a smoking cigarette; then, in the left sector below the red panel we find the green panel with the liquor bottle and, finally, in the lower right area we find the panel with the red monitor graphic and horizontal white line. Regarding its dimensions, it corresponds to a polyptych made up of four square modules, 36 cm x 36 cm x 7 cm deep. Between the modules there is a space of 20 cm, which allows the formation of a cross, by the two spaces crossed perpendicularly. The work has an anti-establishment character, as opposed to the way in which public health is intended to be financed, because the taxes generated by the sale and consumption of alcohol and cigarettes are destined for health, which leads us to a paradox: Is it reasonable to think that there is an attempt to solve health problems through the health detriment of the people who consume liquor and cigarettes? Is not prevention and not consuming these substances what allows us to cultivate a better health condition?

Com a técnica de aerografia sobre madeira, é criada a obra Daltonismo Racional. Esta está disposta em ordem cartesiana, iniciando no plano superior esquerdo com o painel vermelho com uma linha totalmente quebrada, em constante ziguezague, seguido à direita pelo painel verde com o gráfico de um cigarro fumando; em seguida, no setor esquerdo abaixo do painel vermelho encontramos o painel verde com a garrafa de licor e, finalmente, na área inferior direita encontramos o painel com o gráfico do monitor vermelho e linha branca horizontal. Quanto às suas dimensões, corresponde a um políptico composto por quatro módulos quadrados, com 36 cm x 36 cm x 7 cm de profundidade. Entre os módulos existe um espaço de 20 cm, que permite a formação de uma cruz, pelos dois espaços cruzados perpendicularmente. La obra tiene un carácter contestatario, frente a la manera como se pretende financiar la salud pública, debido a que los impuestos generados por la venta y consumo de alcohol y cigarrillos, se destinan para la salud, lo que nos lleva a una paradoja: es razonable pensar que a través del detrimento de la salud de las personas que consumen licores y cigarrillos, se intente solucionar los problemas de salud?, no es acaso la prevención y el no consumo de estas sustancias, lo que nos permite cultivar un mejor Estado de saúde?

Hipercolesterolemia familiar descripción de un caso en una familia de Armenia - Quindío (Colombia)

Introducción: La Hipercolesterolemia familiar (HF) es una enfermedad genética de carácter autosómico dominante, poco frecuente, generada por la mutación en el cromosoma 19. Es la primera causa de enfermedad cardiovascular prematura. Las mutaciones patogénicas que generan la HF se relacionan con el receptor de LDL (LDLr), la apolipoproteina B-100 (Apo- B100) y la proteína convertasa subtilisina / kexina tipo 9 (PCSK9), que produce elevación del colesterol y alteración de la vía del LDLr en el 80 % de los casos diagnosticados de HF (5). Presentamos un reporte de caso de cuatro pacientes que pertenecen a la misma familia, quienes presentan mutaciones patogénicas de diferente compromiso a nivel cardiovascular y sistémico que ha afectado de manera negativa su cotidianidad. El objetivo de este trabajo es realizar una correlación del hipercolesterolemia familiar de tipo genético a partir de la literatura, con respecto a la serie de casos presentada, y evaluar el impacto que este genera en los servicios de salud, en la vida del paciente y su familia. Discusión: El reporte de caso que presentamos se fundamenta en la sospecha de HF según los criterios de Holanda. En estos pacientes se reconoce mutación del gen LDLr que se relaciona con HF. Sin embargo, no ha sido ampliamente estudiada. Chmara realizó en Polonia por primera vez un estudio en el que reportó la variante ac 11G>T. En Colombia, el estudio de López encontró tres mutaciones, identificadas como variante a c.11G > A, n c.416A > G y c.1187G > A (8). Conclusión: La HF en nuestro medio es poco frecuente y con gran impacto social, en la mayoría de los casos genera síntomas clínicos y aumento del riesgo cardiovascular desde una edad temprana. Es importante resaltar el diagnóstico oportuno y el conocimiento por parte del personal de salud para generar una calidad de vida adecuada a los pacientes y evitar que aumente el riesgo cardiovascular.

Introduction: Familial hypercholesterolemia (FH) is a rare autosomal dominant genetic disease caused by a chromosome 19 mutation. It is the main cause of premature cardiovascular disease. Pathogenic mutations which cause FH are related to the LDL receptor (LDLr), B-100 apolipoprotein (Apo-B100) and type 9 subtilisin/kexin convertase protein (PCSK9), causing blood cholesterol increase and impairment of the LDLr pathway in up to 80% of patients diagnosed with FH. We present the case of 4 patients belonging to the same family and who present pathogenic mutations leading to diverse kinds of cardiovascular and systemic disease. Discussion: The case report we are presenting is based on the suspicion of FH according to the dutch criteria. These patients had the LDLr gene mutation related to FH. However, this mutation has not been thoroughly studied. The ac 11G>T variant was reported for the first time in Poland by Chmara. In Colombia, Lopez found 3 mutations identified as variant a c.11G > A, variant n c.416A > G and variant c.1187G > A. Conclusion: FH is rare in Colombia. Early diagnosis and healthcare worker awareness must be highlighted to improve the quality of life and decrease the cardiovascular risk of patients.

Mutación heterocigota, autosómica recesiva del gen RARS2 en una paciente colombiana de padres no consanguíneos / Autosomal recessive heterocygote mutation of the RARS2 gene in a colombian patient with non- consanguineous parents

Las nuevas metodologías de secuenciación masiva han permitido caracterizar e identificar variantes genéticas asociadas a diferentes patologías. En este trabajo se presenta el caso de una paciente con una mutación del gen RARS2 que codifica la enzima arginino-ARNt ligasa para la codificación de proteínas. Esta alteración genética se manifiesta en hipoplasia pontocerebelosa tipo 6, con una prevalencia de <1/1 000 0000, caracterizada por un cerebelo y un puente de menor tamaño asociados a un retraso grave en el neurodesarrollo. El análisis de caso permite un mejor conocimiento de enfermedades de origen genético, específicamente, de aquellas con patrones de herencia autosómicos recesivos de padres no consanguíneos. Su estudio sobre todo en lo relacionado con el ámbito familiar y socioeconómico, y su base genética, ayuda a una mejor calidad de vida de los pacientes y su familia.

The latest method of next-generation sequencing has allowed the characterization and identification of genetic variants associated to diverse pathologies. In this article, we present the case of female patient with a mutation of the RARS2 gene that encodes the enzyme for arginyl tRNA synthetase for coding of proteins. This genetic alteration manifests in pontocerebellar hypoplasia type 6, with a prevalence of <1/1,000,0000, characterized by a cerebellum and pons that are smaller in size and are associated with severe neurodevelopmental delay. The analysis of the case of this patient provides better knowledge of diseases of genetic origin; specifically, regarding genetic diseases of autosomal recessive patterns of inheritance from non-consanguineous parents. The impact of these studies; specially within the family, social, economic and genetic aspects helps provide a better quality of life for these patients and their family.

[Autosomal recessive heterocygote mutation of the RARS2 gene in a colombian patient with non- consanguineous parents]. / Mutación heterocigota, autosómica recesiva del gen RARS2 en una paciente colombiana de padres no consanguíneos.

The latest method of next-generation sequencing has allowed the characterization and identification of genetic variants associated to diverse pathologies. In this article, we present the case of female patient with a mutation of the RARS2 gene that encodes the enzyme for arginyl tRNA synthetase for coding of proteins. This genetic alteration manifests in pontocerebellar hypoplasia type 6, with a prevalence of<1/1,000,0000, characterized by a cerebellum and pons that are smaller in size and are associated with severe neurodevelopmental delay. The analysis of the case of this patient provides better knowledge of diseases of genetic origin; specifically, regarding genetic diseases of autosomal recessive patterns of inheritance from non-consanguineous parents. The impact of these studies; specially within the family, social, economic and genetic aspects helps provide a better quality of life for these patients and their family.

Las nuevas metodologías de secuenciación masiva han permitido caracterizar e identificar variantes genéticas asociadas a diferentes patologías. En este trabajo se presenta el caso de una paciente con una mutación del gen RARS2 que codifica la enzima arginino-ARNt ligasa para la codificación de proteínas. Esta alteración genética se manifiesta en hipoplasia pontocerebelosa tipo 6, con una prevalencia de<1/1 000 0000, caracterizada por un cerebelo y un puente de menor tamaño asociados a un retraso grave en el neurodesarrollo. El análisis de caso permite un mejor conocimiento de enfermedades de origen genético, específicamente, de aquellas con patrones de herencia autosómicos recesivos de padres no consanguíneos. Su estudio sobre todo en lo relacionado con el ámbito familiar y socioeconómico, y su base genética, ayuda a una mejor calidad de vida de los pacientes y su familia.

Glomerulonefritis crescéntica secundaria a consumo de cocaína adulterada con levamisol. Reporte de un caso y revisión de la literatura / Crescentic glomerulonephritis associated with levamisole-adulterated cocaine. A case report and a review of the literature

Resumen Introducción: El levamisol es un fármaco antihelmíntico, también conocido por su uso como inmunomodulador el cual, como consecuencia de sus efectos tóxicos, fue retirado a finales del siglo XX. En el 2005, producto de un incremento en el diagnóstico de vasculitis pauci-inmune entre la población usuaria de sustancias psicoactivas, se documentó la adulteración con fines comerciales de la cocaína combinándola con levamisol, a partir de un aumento de manifestaciones reumáticas asociadas al consumo de dicha droga. Reporte de caso: Se presenta el caso de un adulto joven con antecedentes de síndrome de Alport y consumo reciente de sustancias psicoactivas. Se realiza biopsia renal demostrándose la presencia de glomerulonefritis crescéntica pauci-inmune. Por lo anterior, se relacionó este tipo de vasculitis de pequeño vaso con afectación renal y depósito de complejos inmunes al consumo de cocaína adulterada con levamisol. Discusión: El levamisol, medicamento aprobado por la FDA en 1991, actúa como inmunomodulador, antiparasitario y coadyuvante en quimioterapia. El levamisol produce un síndrome reumático caracterizado por la presencia de glomerulonefritis, hemorragia alveolar, púrpura retiforme, neutropenia y agranulocitosis en relación con la presencia de anticuerpos anticitoplasma de neutrófilo. Conclusión: El levamisol es conocido por sus propiedades antihelmínticas e inmunomoduladoras, adicionalmente puede producir efectos tóxicos ostensibles. Dado el alto consumo de cocaína entre la población indigente, la presencia de este adulterante constituye un problema de salud pública creciente.

Abstract Introduction: Levamisole is an anthelmintic drug, also known for its use as an immunomodulator which, because of its toxic effects, was withdrawn at the end of the 20th century. In 2005, because of an increase in the diagnosis of pauci-immune vasculitis among the population that uses psychoactive substances, the adulteration of cocaine for commercial purposes by combining it with levamisole was documented. Case Report: The case of a young adult with a history of Alport Syndrome and recent consumption of psychoactive substances is presented. A renal biopsy is performed, demonstrating the presence of pauci-immune crescentic glomerulonephritis. Therefore, this type of small vessel vasculitis with kidney involvement and immune complex deposition was associated with the use of cocaine adulterated with levamisole. Discussion: Levamisole, a drug approved by the FDA in 1991, acts as an immunomodulator, antiparasitic and adjuvant in chemotherapy. Levamisole produces a rheumatic syndrome characterized by the presence of glomerulonephritis, alveolar hemorrhage, retinal purpura, neutropenia, and agranulocytosis in association with the presence of anti-neutrophil cytoplasmic antibodies. Conclusion: levamisole is known for its anthelmintic and immunomodulatory properties, additionally it can produce ostensible toxic effects. Given the high consumption of cocaine among the indigent population, the presence of this adulterant constitutes a growing public health problem.

MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

BACKGROUND: We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population. METHODS: We used the combination of multiplex ligation-dependent probe amplification (MLPA) and sequencing analysis of the DMD gene. We recruited Peruvian patients in 2 years from reference national hospitals. We performed DNA tests in 152 patients, checking first exon deletion/duplication by MLPA, and subsequently, if negative, samples were sequenced to detect point mutations. RESULTS: The average age for diagnosis was 9.8 years, suggesting a delay for timely diagnosis and care. We found causal DMD mutations in 125 patients: 72 (57.6%) exon deletions/duplications (41.6% deletions, 16.0% duplications), and 53 (42.4%) point mutations (27.2% nonsense, 9.6% small indels, and 5.6% splice site). CONCLUSION: Due to our genetic background, we expected a higher number of novel and recurrent causal mutations in our sample. Results showed 16% of novel mutations, similar to other well-studied populations.

Study on health risk factors as a basis to implement programs that promote a nutritional culture in students of the la Sabana University.

BACKGROUND: Nowadays the importance of lifestyles in the prevention of type 2 diabetes and the metabolic syndrome has been largely accertained. OBJECTIVE: The purpose of our work is to implement programs that promote a nutritional culture in adolescents and young adults of the La Sabana University. METHODS: The methodology entailed, after the corresponding informed consent, taking measures of the triceps and supraescapular skinfolds, waist circumference, body mass index (BMI), lean mass, and fat mass. Fasting blood samples were also taken to quantify cholesterol, triglycerides, high density lipoprotein (HDL) and low density lipoprotein (LDL). RESULTS: The results obtained show that of the 165 students, 10.3% were underweight, 13.93% were overweight and 0.6% were obese. With regards to gender, 4.8% of the men and 9% of the women were overweight, 3% of the men and 7.2% of the women were underweight, and 0.6% of the women were obese. The blood chemistry showed that 30% had hypercholesterolemia, 18% hypertriglyceridemia, 17% reported low HDL levels and 67% reported high LDL levels. Of all the cases studied, 40% are at risk of a metabolic syndrome. 60% claimed not to practice any physical activity - especially women who reported 44.70%. CONCLUSIONS: These findings have allowed us at the institution to implement a culture of healthy habits. The have also allowed us to identify students with risk factors for type 2 diabetes and metabolic syndrome. This is why the cardiometabolic monitoring and control based on healthy eating and physical activity are important.

Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America.

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins the lysin with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. KARS gene mutations have been linked to diverse neurologic phenotypes, such as neurosensorial hearing loss, leukodystrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, the impairment of the mitochondrial respiratory chain, and hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene and, in addition to the case report, the paper reviews the literature for other cases of KARS1-associated leukodystrophy.

COVID-19: una revisión de la evidencia en el ámbito pediátrico / COVID-19: A Review of the Available Evidence Regarding Pediatric Population

Resumen En el contexto de la pandemia por COVID-19, es importante la selección y el uso adecuado de los conocimientos nuevos y de aquellos adquiridos en situaciones históricas similares, para garantizar una correcta toma de decisiones en cuanto a la prevención, manejo y tratamiento de esta enfermedad en la población pediátrica. Desde inicios del 2020, la atención se ha focalizado en el control de la pandemia y en el manejo de los pacientes con esta enfermedad, cuya mayoría se encuentra en la población adulta. Sin embargo, recientemente se han observado cursos más severos de la enfermedad en pacientes pediátricos y lo que inicialmente se consideraba como una patología inofensiva ha generado mayores alertas en esta población por la presencia de complicaciones severas. Por lo anterior, la presente revisión busca determinar las últimas estrategias de prevención, diagnóstico y tratamiento avaladas y soportadas por la evidencia científica, de manera que se aporten las herramientas necesaria para garantizar un manejo adecuado y disminuir, en la medida de lo posible, los desenlaces fatales en la población pediátrica.

Abstract In the context of the COVID-19 pandemic, the adequate selection and appropriate use of previously acquired knowledge from similar historical situations and the one acquired lately amid the pandemic is vital to guarantee correct decision-making regarding the prevention, management and treatment of this disease in the pediatric population. Since the beginning of 2020, attention has shifted to controlling the pandemic and managing patients with this disease, the majority being those in the adult population. However, more severe courses of the disease have recently been observed in pediatric patients, and what was initially considered to be a harmless pathology in this population has generated greater alerts due to the presence of severe complications. Therefore, this review seeks to determine the latest prevention, diagnosis and treatment strategies endorsed and supported by scientific evidence, in order to provide the necessary tools to guarantee proper management and to reduce, as far as possible, the fatal outcomes in the pediatric population.

[Identification of mycobacteria species through mass spectrometry (MALDI-TOF)]. / Identificación de especies de micobacterias mediante espectrometría de masas (MALDI-TOF).

BACKGROUND: Mycobacterial diseases are very important both clinically and epidemiologically. Mycobacterium tuberculosis complex (MTBc) infections confer higher morbidity and mortality rate than non-tuberculous mycobacteria (NTM) infections. Traditional species identification techniques are based on phenotypic characteristics which take a long time by laborious processes and in occasions are no conclusive. Currently, most used techniques are based on molecular methods, which are accurate but are expensive and complex. Matrix Assisted Laser Desorption/Ionization Time-of-Flight mass spectrometry (MALDI-TOF MS) is a simple, cheap and fast identification method based on comparing protein spectra with a reference database. AIM: To assess the performance of MALDI-TOF MS in the identification of MTBc and NTM, compared with molecular methods. METHODS: For that purpose, 28 isolates of 9 different species were analyzed through MALDI-TOF MS. RESULTS: 78.5% (22/28) of isolates were correctly identified, 100% (9/9) of rapidly growers NTM, 60% (9/15) of slow growing NTM and 100% (4/4) of MTBc. Every unidentified isolate (6/6) corresponded to M. avium/intracellulare complex. CONCLUSION: MALDI-TOF MS is fast, simple and cheaper than molecular methods and also has adequate accuracy.

Detección de un mosaico de trisomía 21 en líquido amniótico / Detection of a mosaicism of trisomy 21 in amniotic liquid

Resumen Se analizó un resultado con alteración cromosómica tomado de una base de datos conformada por un total de 4755 muestras de líquido amniótico extraídos mediante amniocentesis con indicación de su médico tratante, riesgo sérico y edad materna avanzada. En este reporte se presenta la detección de un mosaico de trisomía 21 en líquido amniótico, mediante la técnica de Banda G donde se analizaron 20 metafases. Los resultados obtenidos documentan una composición cromosómica 47, XY+21 y 46, XY con una relación 9:11 respecto a las metafases analizadas, confirmándose así el diagnóstico del Síndrome de Down secundario a mosaico.

Abstract A result with chromosomal alteration was analyzed from a database consisting of a total of 4755 samples of amniotic fluid extracted by amniocentesis with indication of the attending physician, serum risk and advanced maternal age. This report presents the detection of a mosaicism of trisomy 21 in amniotic fluid, using G- Banding where 20 metaphases were analyzed. The results obtained document a chromosomal composition 47, XY + 21 and 46, XY with a 9:11 ratio with respect to the metaphases analyzed, confirming the diagnosis of Down syndrome secondary to mosaicism.

Identificación de especies de micobacterias mediante espectrometría de masas (MALDI-TOF) / Identification of mycobacteria species through mass spectrometry (MALDI-TOF)

Resumen Introducción: Las enfermedades producidas por micobacterias son de gran importancia clínica y epidemiológica presentando el complejo Mycobacterium tuberculosis (MTBc) una morbi-mortalidad mayor que la producida por micobacterias no tuberculosas (MNTB). La identificación tradicional está basada en sus características fenotípicas mediante procesos laboriosos e incapaces en algunos casos de distinguir entre especies. Actualmente, la mayoría de las técnicas utilizadas se basan en métodos moleculares que tienen alta veracidad, pero son complejas y de alto costo. La espectrometría de masas con desorción/ionización láser asistida por una matriz asociada a tiempo de vuelo (MALDI-TOF MS) se basa en la comparación del espectro proteico producido con respecto al de una base de datos de referencia. Objetivo: Evaluar el rendimiento de MALDI-TOF MS en la identificación de micobacterias comparado con métodos moleculares: Material y Métodos: Se analizaron 28 aislados de nueve especies distintas mediante MALDI-TOF MS. Resultados: Se identificó correctamente 78,5% de las aislados (22/28), concordante en 100% (9/9) de MNTB de crecimiento rápido, 60% (9/15) en las MNTB de crecimiento lento y 100% (4/4) de MTBc. Todas las especies no identificadas (6/6) pertenecen al complejo M. avium/intracellulare. Conclusión: MALDI-TOD MS es una metodología rápida, fácil y de bajo costo, con adecuada veracidad respecto a los métodos moleculares.

Abstract Background: Mycobacterial diseases are very important both clinically and epidemiologically. Mycobacterium tuberculosis complex (MTBc) infections confer higher morbidity and mortality rate than non-tuberculous mycobacteria (NTM) infections. Traditional species identification techniques are based on phenotypic characteristics which take a long time by laborious processes and in occasions are no conclusive. Currently, most used techniques are based on molecular methods, which are accurate but are expensive and complex. Matrix Assisted Laser Desorption/Ionization Time-of-Flight mass spectrometry (MALDI-TOF MS) is a simple, cheap and fast identification method based on comparing protein spectra with a reference database. Aim: To assess the performance of MALDI-TOF MS in the identification of MTBc and NTM, compared with molecular methods. Methods: For that purpose, 28 isolates of 9 different species were analyzed through MALDI-TOF MS. Results: 78.5% (22/28) of isolates were correctly identified, 100% (9/9) of rapidly growers NTM, 60% (9/15) of slow growing NTM and 100% (4/4) of MTBc. Every unidentified isolate (6/6) corresponded to M. avium/intracellulare complex. Conclusion: MALDI-TOF MS is fast, simple and cheaper than molecular methods and also has adequate accuracy.

Identification of metabolic indicators for cardiovascular risk in schoolchildren

Objective: CardioVascular Disease (CVD) is one of the most important causes of death worldwide affecting people at younger ages every year. The purpose of this study was to identify the metabolic indicators for cardiovascular risk factors in primary school students from Mexico and Colombia. Methods: A clinical, prospective, cross-sectional and comparative study was conducted in Mexico and Colombia to contrast anthropometric measurements, biochemical and dietetic determinations and physical activity. Results: The Waist-Hip Ratio (WHR) and the Waist-to-Height Ratio (WtHR) showed significant differences (p≤0.001) between Mexico and Colombia (0.8 ± 0.1 versus 0.5 ± 0.1) and (0.4 ± 0.06 vs. 0.78 ± 0.04) respectively. The Automatic Linear Modeling showed that the main predictors for cholesterol levels were WtHR, MonoUnsaturated Fatty Acids (MUFA) and lipids ingestion. For glucose there were four main predictors: WHR, carbohydrates, MUFA and Saturated Fatty Acids (SFA). For triglycerides the pedictors were Products of Animal Origin (PAO), BMI, waist circumference, lipids and cholesterol ingestion and Mean Arterial Pressure (MAP). The Weight Estimation tests weighted per gender showed that for glucose levels the main determinants were carbohydrates, MUFA and oils; for cholesterol these were MUFA, PUFA and oils; and for LDL the significant variables were proteins, SFA, PAO and sugars; and last, for triglycerides the main variables were BMI, cholesterol and vegetables. Conclusions: Mexico has higher values in almost all items of cardiovascular risk in children, but both countries have significant percentages of obesity and the population free of cardiovascular risk is minimal.