[A case report of Noonan syndrome diagnosed in primary healthcare]. / Reporte de un caso de síndrome de Noonan diagnosticado en atención primaria.

Noonan syndrome is an autosomal dominant inherited disorder with variable phenotypic expression. It belongs to the group of diseases known as RASopathies, which are characterized by mutations in the RAS genes. Patients develop symptoms such as facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders and mental retardation. In this article, we report a case of Noonan syndrome in a 14-year-old patient, diagnosed in a primary health center in Ecuador. The syndrome was identified through clinical diagnosis, after which the patient was referred to the secondary and tertiary levels for specialized care.

El síndrome de Noonan es un trastorno genético de herencia autosómica dominante, de expresión fenotípica variable. Pertenece al grupo de las enfermedades conocidas como rasopatías, trastornos producido por las mutaciones en los genes RAS. Los pacientes desarrollan síntomas como dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y discapacidad intelectual. En el presente reporte, se describe un caso de diagnóstico del síndrome de Noonan en un paciente de 14 años, realizado a nivel de atención primaria en Ecuador. El síndrome se identificó mediante diagnóstico clínico, permitiendo su derivación al segundo y tercer nivel de salud para una atención especializada.

Reporte de un caso de síndrome de Noonan diagnosticado en atención primaria / A case report of Noonan syndrome diagnosed in primary healthcare

El síndrome de Noonan es un trastorno genético de herencia autosómica dominante, de expresión fenotípica variable. Pertenece al grupo de las enfermedades conocidas como rasopatías, trastornos producido por las mutaciones en los genes RAS. Los pacientes desarrollan síntomas como dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y discapacidad intelectual. En el presente reporte, se describe un caso de diagnóstico del síndrome de Noonan en un paciente de 14 años, realizado a nivel de atención primaria en Ecuador. El síndrome se identificó mediante diagnóstico clínico, permitiendo su derivación al segundo y tercer nivel de salud para una atención especializada.

Noonan syndrome is an autosomal dominant inherited disorder with variable phenotypic expression. It belongs to the group of diseases known as RASopathies, which are characterized by mutations in the RAS genes. Patients develop symptoms such as facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders and mental retardation. In this article, we report a case of Noonan syndrome in a 14-year-old patient, diagnosed in a primary health center in Ecuador. The syndrome was identified through clinical diagnosis, after which the patient was referred to the secondary and tertiary levels for specialized care.

[ß-lactam antibiotics resistance in Latin American countries]. / Resistencia de los antibióticos ß-lactámicos en países latinoamericanos.

Ever since antimicrobial activity was observed at the end of the XIX century and antibiotics were produced on a large scale in the 40s, microorganisms have developed multiple resistance mechanisms, making treatment of infectious diseases difficult. For instance, several Gram-positive and Gram-negative bacteria lowered their sensitivity to ß-Lactam antibiotics as a result of their inadequate use and abuse. For this reason, microbial resistance to these drugs represents an increasing health problem in Latin America due to the emergence of drug-resistant bacterial strains. This review aims to summarize and analyze scientific literature reporting resistance to ß-lactam antibiotics in Latin America. We compiled scientific papers published during the last five years from PubMed, SciELO, and LILACS-BIREME. We found that: (i) it is common to identify resistance genes for ß-lactams in the soil and animal farms, and (ii) over 40% of strains isolated from clinical samples developed resistance against ß-lactam antibiotics.

A partir de la observación de la actividad antimicrobiana a finales del siglo XIX y la producción a gran escala de los antibióticos en la década de 1940, los microorganismos han desarrollado múltiples mecanismos de resistencia a estos compuestos, debido a su uso indiscriminado y al paso de los años. Todo ello, dificulta el tratamiento de las enfermedades infecciosas. Este es el caso de varias especies de bacterias grampositivas y gramnegativas las cuales han disminuido su sensibilidad a los antibióticos ß-lactámicos como resultado del empleo inadecuado y abuso de su administración. Es por ello que la resistencia bacteriana a estos medicamentos representa un problema de salud pública que va en aumento en Latinoamérica, como consecuencia del surgimiento de cepas resistentes a varios de estos compuestos. Frente a estos antecedentes, y a que son escasos los análisis sistemáticos que se han efectuado sobre dicho tema, esta revisión bibliográfica tiene como objetivo resumir y analizar las publicaciones científicas sobre la resistencia a los antibióticos ß-lactámicos en algunos países de América Latina. Para esto se estudiaron publicaciones realizadas en los últimos cinco años e indexadas en las bases de datos PubMed, SciELO y LILACS-BIREME. Los resultados del análisis señalan que resulta común la identificación de genes de resistencia para los antibióticos ß-lactámicos en el medio ambiente, especialmente en el suelo y en las granjas de crianza de animales; y más del 40% de las cepas aisladas a partir de muestras clínicas presentan algún mecanismo de resistencia a esta familia de antibióticos.

Mapping replication dynamics in Trypanosoma brucei reveals a link with telomere transcription and antigenic variation.

Survival of Trypanosoma brucei depends upon switches in its protective Variant Surface Glycoprotein (VSG) coat by antigenic variation. VSG switching occurs by frequent homologous recombination, which is thought to require locus-specific initiation. Here, we show that a RecQ helicase, RECQ2, acts to repair DNA breaks, including in the telomeric site of VSG expression. Despite this, RECQ2 loss does not impair antigenic variation, but causes increased VSG switching by recombination, arguing against models for VSG switch initiation through direct generation of a DNA double strand break (DSB). Indeed, we show DSBs inefficiently direct recombination in the VSG expression site. By mapping genome replication dynamics, we reveal that the transcribed VSG expression site is the only telomeric site that is early replicating - a differential timing only seen in mammal-infective parasites. Specific association between VSG transcription and replication timing reveals a model for antigenic variation based on replication-derived DNA fragility.

Chagas disease reactivation in a heart transplant patient infected by domestic Trypanosoma cruzi discrete typing unit I (TcIDOM).

BACKGROUND: Trypanosoma cruzi, causative agent of Chagas disease, displays high intraspecific genetic diversity: six genetic lineages or discrete typing units (DTUs) are currently recognized, termed TcI through TcVI. Each DTU presents a particular distribution pattern across the Americas, and is loosely associated with different transmission cycles and hosts. Several DTUs are known to circulate in Central America. It has been previously suggested that TcI infection is benign and does not lead to chronic chagasic cardiomyopathy (CCC). FINDINGS: In this study, we genotyped T. cruzi parasites circulating in the blood and from explanted cardiac tissue of an El Salvadorian patient who developed reactivation Chagas disease while on immunosuppressive medications after undergoing heart transplant in the U.S. as treatment for end-stage CCC. Parasite typing was performed through molecular methods (restriction fragment length polymorphism of polymerase reaction chain amplified products, microsatellite typing, maxicircle sequence typing and low-stringency single primer PCR, [LSSP-PCR]) as well as lineage-specific serology. We show that the parasites infecting the patient belong to the TcI DTU exclusively. Our data indicate that the parasites isolated from the patient belong to a genotype frequently associated with human infection throughout the Americas (TcIDOM). CONCLUSIONS: Our results constitute compelling evidence in support of TcI DTU's ability to cause end-stage CCC and help dispel any residual bias that infection with this lineage is benign, pointing to the need for increased surveillance for dissemination of this genotype in endemic regions, the USA and globally.