RESUMEN
INTRODUCTION: Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic and genetic diseases. OBJECTIVE: To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X. CASE REPORT: This is a female infant of 7-month at diagnosis, without family or obstetric history of interest, head circumference at birth -1.5 standard deviations (SD). She had little weight and growth in head circumference progression. In addition, physical examination revealed no fixating gaze, hypotonia with preserved deep tendon reflexes. Progressively developed refractary seizures. Brainsteam Auditory Evoked Potential demonstrated involvement of pontomesencefphalic ways and neuroimaging Pontocerebellar hypoplasia. The genetic study (aCGH) showed heterozygous deletion on the X chromosome, affecting the CASK gene. CONCLUSIONS: Given the wide differential diagnosis proposed at the PCH, new cytogenetic techniques have improved the classification of HPC and in some cases establish their etiology, so in these cases can provide appropriate genetic counseling to families.
Asunto(s)
Enfermedades Cerebelosas/diagnóstico , Enfermedades Cerebelosas/genética , Eliminación de Gen , Guanilato-Quinasas/genética , Enfermedades Cerebelosas/complicaciones , Preescolar , Femenino , Marcadores Genéticos , Humanos , Lactante , Microcefalia/diagnóstico , Microcefalia/etiología , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/etiologíaRESUMEN
Introducción: La hipoplasia pontocerebelosa (HPC) es la reducción del tamaño del cerebelo y la protuberancia secundaria a una alteración en su desarrollo, pudiendo ser provocado por enfermedades neurodegenerativas de causa genética, de las que se conocen 10 subtipos (PCH 1-10), malformaciones corticales, enfermedades metabólicas y enfermedades genéticas. Objetivo: Presentar el caso de una niña con microcefalia, HPC y Síndrome de West, en que el estudio genético permitió llegar al diagnóstico de una deleción en el cromosoma X. Caso clínico: Lactante de 7 meses al diagnóstico, sin antecedentes familiares ni obstétricos de interés, perímetro cefálico (PC) al nacimiento en -1.5 desviaciones estándar (DE). Evolucionó con escasa progresión ponderal y estancamiento del crecimiento del PC, retraso del desarrollo psicomotor, caracterizado por ausencia de fijación de la mirada e hipotonía con reflejos osteotendinosos conservados, y epilepsia refractaria. En los potenciales evocados auditivos se demostró compromiso de las vías pontomesencefálicas y en las neuroimágenes HPC. El estudio genético Array de Hibridación Genómica Comparada (aCGH) demostró deleción parcial heterocigota en el cromosoma X, afectando al gen CASK. Conclusiones: Ante el amplio diagnóstico diferencial que plantea las HPC, las nuevas técnicas citogenéticas han permitido mejorar la clasificación y en algunos casos establecer su etiología, pudiendo ofrecer en estos casos un adecuado asesoramiento genético a las familias.
Introduction: Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic and genetic diseases. Objective: To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X. Case report: This is a female infant of 7-month at diagnosis, without family or obstetric history of interest, head circumference at birth -1.5 standard deviations (SD). She had little weight and growth in head circumference progression. In addition, physical examination revealed no fixating gaze, hypotonia with preserved deep tendon reflexes. Progressively developed refractary seizures. Brainsteam Auditory Evoked Potential demonstrated involvement of pontomesencefphalic ways and neuroimaging Pontocerebellar hypoplasia. The genetic study (aCGH) showed heterozygous deletion on the X chromosome, affecting the CASK gene. Conclusions: Given the wide differential diagnosis proposed at the PCH, new cytogenetic techniques have improved the classification of HPC and in some cases establish their etiology, so in these cases can provide appropriate genetic counseling to families.
Asunto(s)
Humanos , Femenino , Lactante , Preescolar , Enfermedades Cerebelosas/diagnóstico , Enfermedades Cerebelosas/genética , Eliminación de Gen , Guanilato-Quinasas/genética , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/etiología , Marcadores Genéticos , Enfermedades Cerebelosas/complicaciones , Microcefalia/diagnóstico , Microcefalia/etiologíaRESUMEN
INTRODUCTION: Community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infections are found with increasing the frequency, both in healthy individuals in the community and in hospitalized patients. In Colombia and the Andean region, CA-MRSA isolates have a genetic background that is related to the pandemic USA300 clone. OBJECTIVE: Two molecular methods are designed and standardized for the rapid differentiation of Colombian community-acquired and hospital-acquired methicillin-resistant Staphylococcus aureus (HA-MRSA) isolates. MATERIALS AND METHODS: Two molecular methods were standardized for the identification of CA-MRSA isolates. The first method was based on the differential digestion of the carbamate kinase (arcC)and guanylate kinase (gmk) genes in the sequences type 5 (ST5) in the HA-MRSA isolates and 8 (ST8) in the CA-MRSA isolates. The second method was based on the PCR amplification of 5 specific virulence factors found in CA-MRSA and HA-MRSA isolates. The specificity and precision of each method were evaluated using 237 clinical MRSA isolates. RESULTS: The first method identified 100% and 93.2% of the CA-MRSA and HA-MRSA isolates, respectively. The second method also correctly identified the two isolates types (CA-MRSA and HA-MRSA). CONCLUSIONS: These two methods are a convenient alternative for the rapid identification of the CA-MRSA isolates, compared with other techniques such as pulsed field gel electrophoresis and multilocus sequence typing, which are time-consuming and more expensive.
Asunto(s)
Técnicas de Tipificación Bacteriana/métodos , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Reacción en Cadena de la Polimerasa/métodos , Polimorfismo de Longitud del Fragmento de Restricción , Infecciones Estafilocócicas/microbiología , Alelos , Proteínas Bacterianas/genética , Técnicas de Tipificación Bacteriana/normas , Colombia , Infecciones Comunitarias Adquiridas/epidemiología , Infecciones Comunitarias Adquiridas/microbiología , Infección Hospitalaria/epidemiología , Infección Hospitalaria/microbiología , Electroforesis en Gel de Campo Pulsado , Genes Bacterianos , Guanilato-Quinasas/genética , Humanos , Staphylococcus aureus Resistente a Meticilina/clasificación , Staphylococcus aureus Resistente a Meticilina/genética , Fosfotransferasas (aceptor de Grupo Carboxilo)/genética , Reproducibilidad de los Resultados , Alineación de Secuencia , Análisis de Secuencia de ADN , Infecciones Estafilocócicas/epidemiología , Factores de Tiempo , Virulencia/genéticaRESUMEN
Introduction. Community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) infections are found with increasing the frequency, both in healthy individuals in the community and in hospitalized patients. In Colombia and the Andean region, CA-MRSA isolates have a genetic background that is related to the pandemic USA300 clone. Objective. Two molecular methods are designed and standardized for the rapid differentiation of Colombian community-acquired and hospital-acquired methicillin-resistant Staphylococcus aureus (HA-MRSA) isolates. Materials and methods. Two molecular methods were standardized for the identification of CA-MRSA isolates. The first method was based on the differential digestion of the carbamate kinase (arcC)and guanylate kinase (gmk) genes in the sequences type 5 (ST5) in the HA-MRSA isolates and 8 (ST8) in the CA-MRSA isolates. The second method was based on the PCR amplification of 5 specific virulence factors found in CA-MRSA and HA-MRSA isolates. The specificity and precision of each method were evaluated using 237 clinical MRSA isolates. Results. The first method identified 100% and 93.2% of the CA-MRSA and HA-MRSA isolates, respectively. The second method also correctly identified the two isolates types (CA-MRSA and HA-MRSA). Conclusions. These two methods are a convenient alternative for the rapid identification of the CA-MRSA isolates, compared with other techniques such as pulsed field gel electrophoresis and multilocus sequence typing, which are time-consuming and more expensive.
Introducción. Los aislamientos de Staphylococcus aureus resistente a la meticilina asociado a la comunidad (SARM-AC), están aumentando la frecuencia de infecciones en personas sanas de la comunidad y en pacientes hospitalizados. En Colombia y en la región andina estos aislamientos tienen un componente genético relacionado con el clon pandémico USA300. Objetivo. Diseñar y estandarizar dos metodologías para la diferenciación rápida de aislamientos colombianos de S. aureus resistente a la meticilina asociado a la comunidad de los asociados al hospital (SARM-AH). Materiales y métodos. Se estandarizaron dos metodologías moleculares para la identificación de aislamientos de S. aureus resistente a la meticilina asociado a la comunidad. La primera se basa en la digestión diferencial con tres enzimas de restricción de los genes cinasa de carbamato (arcC)y cinasa de guanilato (gmk)para los tipos de secuencia 5 (ST5) y 8 (ST8), correspondientes a aislamientos de S. aureus resistente a la meticilina asociado al hospital y asociado a la comunidad, respectivamente. La segunda se basa en la amplificación por reacción en cadena de la polimerasa de cinco factores de virulencia que se encuentran de manera diferencial en estos aislamientos. Las dos metodologías fueron validadas en 237 aislamientos clínicos de S. aureus resistente a la meticilina. Resultados. Con la primera metodología se identificaron el 100 % y 93,2 % de los aislamientos de S. aureus resistente a la meticilina asociado a la comunidad y asociado al hospital, respectivamente. Con la segunda metodología se identificaron correctamente los dos tipos de aislamientos. Conclusiones. Estas dos metodologías son una buena alternativa en términos de ahorro en tiempo y dinero comparadas con otras técnicas, como la electroforesis en campo pulsado y la tipificación de secuencias multilocus para la rápida identificación de aislamientos de S. aureus resistente a la meticilina asociado a la comunidad en Colombia.
Asunto(s)
Humanos , Técnicas de Tipificación Bacteriana/métodos , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Polimorfismo de Longitud del Fragmento de Restricción , Reacción en Cadena de la Polimerasa/métodos , Infecciones Estafilocócicas/microbiología , Alelos , Proteínas Bacterianas/genética , Técnicas de Tipificación Bacteriana/normas , Colombia , Infecciones Comunitarias Adquiridas/epidemiología , Infecciones Comunitarias Adquiridas/microbiología , Infección Hospitalaria/epidemiología , Infección Hospitalaria/microbiología , Electroforesis en Gel de Campo Pulsado , Genes Bacterianos , Guanilato-Quinasas/genética , Staphylococcus aureus Resistente a Meticilina/clasificación , Staphylococcus aureus Resistente a Meticilina/genética , Fosfotransferasas (aceptor de Grupo Carboxilo)/genética , Reproducibilidad de los Resultados , Alineación de Secuencia , Análisis de Secuencia de ADN , Infecciones Estafilocócicas/epidemiología , Factores de Tiempo , Virulencia/genéticaRESUMEN
Pituitary tumors, adenomas in their vast majority, represent around 10-15% of the intracranial neoplasms. Pituitary carcinomas are exceedingly rare. Clinically, these neoplasms cause hormonal dysfunctions, and mass effect symptoms as headache and visual disorders in the case of macroadenomas. Pituitary tumorigenesis is still poorly understood. In order to investigate the expression of cancer-related genes in pituitary tumors, we employed a human cancer cDNA macroarray membrane with 1176 well-characterized human genes related to cancer and tumor biology. We were able to identify several differentially expressed genes, among them hepatocyte growth factor-regulated tyrosine kinase substrate (HGS) and guanylate kinase 1 (GUK1) which were over expressed in a pool of clinically nonfunctioning pituitary adenomas, compared with a spinal cord metastasis of a nonfunctioning pituitary carcinoma. HGS and GUK1 mRNA expression were chosen to be validated by quantitative RT-qPCR, however, only GUK1 had the differential expression confirmed between the adenomas and the metastasis of a pituitary carcinoma. We have also investigated HGS and GUK1 mRNA expressions in a series of 46 pituitary adenomas (18 nonfunctioning, 12 GH-secreting, nine PRL-secreting, and seven ACTH-secreting adenomas). HGS and GUK1 were significantly over expressed in GH-secreting adenomas, compared with ACTH-secreting adenomas and nonfunctioning tumors, and with PRL-secreting adenomas, respectively. We have shown that these genes, involved in tumorigenesis in other tissues, are as well over expressed in the pituitary tumors, however, their role in the oncogenesis of these tumors need to be further investigated.