Diagnóstico y seguimiento de 23 niños con acidurias orgánicas

E, Verónica Cornejo; C, Marta Colombo; S, Gloria Durán; S, Paulina Mabe; M, Mónica Jiménez; C, Alicia De la Parra; G, Alf Valiente; B, Erna Raimann

doi:10.4067/s0034-98872002000300003

Cited by 5 publications

(4 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…They are, however, well in agreement with the recently reported experience of the group from Valparaíso. 7 Besides changes in protein intake, other factors that may lead to improved outcome comprise, e.g., earlier diagnosis (shorter time between clinical onset and diagnosis), especially because of increased awareness of organoacidopathies and widely available selective screening procedures. Optimized therapeutic strategies (as previously outlined in reference 5), including early intervention and hospitalization, may also contribute to a better outcome.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Propionic Acidemia Revisited: A Workshop Report

Sass

Hofmann

Skladal

et al. 2004

Clin Pediatr (Phila)

View full text Add to dashboard Cite

Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited. We present data of 49 patients with PA, which were gathered from 18 metabolic centers throughout Central Europe on the occasion of an international workshop. All patients were identified by selective metabolic screening, and 86% of them were classified as having early-onset PA owing to their presentation with clinical symptoms within the first 90 days of life. Mortality rate was one third, and details of symptoms and treatment of the surviving patients are discussed. The great variation of phenotypic expression of the disease and different therapeutic strategies (especially in regard to the degree of protein restriction) used at the various institutions involved in this study imply the need for a registry of PA patients and for a multicenter prospective treatment study.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Only 2 major reviews exist on greater groups of patients, 5,6 and a few articles are available on (generally) smaller numbers of PA patients from single centers. [7][8][9][10] Outcome and therapeutic strategies differ significantly among those descriptions. In general, outcome was poor in most of the reported patients.…”

Section: Introductionmentioning

confidence: 99%

Propionic Acidemia Revisited: A Workshop Report

Sass

Hofmann

Skladal

et al. 2004

Clin Pediatr (Phila)

View full text Add to dashboard Cite

show abstract

“…Ackoff (2007), la concibe como un proceso que se dirige hacia la producción de uno o más estados deseados, situados en el futuro, que no es probable que ocurran si no se hace algo al respecto. Desde otra perspectiva, David (2008); y, Moreno et al (2017), puntualizan que formular la estrategia incluye desarrollar la visión, la misión, identificar las oportunidades, las amenazas externas para la organización, determinar las fortalezas y debilidades internas, establecer objetivos a largo plazo, generar estrategias alternativas, así como elegir las estrategias particulares que se habrán de seguir.…”

Section: Introductionunclassified

Planeación estratégica para la competitividad de pequeñas y medianas empresas del sector construcción e inmobiliario

2023

RCS

View full text Add to dashboard Cite

Es importante considerar las adaptaciones que la globalización induce en cuanto a factores económicos, políticos, sociales y culturales, dado que se exige a las empresas una posición estratégica que les permita aumentos significativos en términos de productividad y competitividad. En este sentido, el objetivo de la investigación fue analizar la planeación estratégica en pequeñas y medianas empresas del sector construcción e inmobiliario en el departamento del Atlántico-Colombia, tomando como base las etapas de formulación y evaluación de estrategias que utilizan para su competitividad. Para ello, el estudio se caracterizó desde el enfoque cuantitativo, como una investigación de alcance descriptivo, con diseño no experimental, transversal, de campo, utilizando para la recolección de datos un cuestionario con escala frecuencial, aplicado a una población de 81 empresas, donde los gerentes fueron las unidades informantes. Entre los hallazgos se tiene que se formulan y evalúan estrategias en las empresas del sector, que hay fortalezas en la misión, visión, oportunidades y atención a las amenazas, con oportunidad de mejora en el enfoque hacia las debilidades y en los planes de contingencia. Se concluye, que las empresas estudiadas se están orientando en las fases de formulación y evaluación de estrategias como fuente generadora de su competitividad.Palabras clave: Planeación estratégica; formulación de estrategias; evaluación de estrategias; competitividad; pymes.

show abstract

“…Clinical manifestations of GA1 patients can vary considerably. Most of them have macrocephaly at birth or rapid increase in head circumference postnatally [11]. Acute encephalopathic deterioration, which are usually originated by febrile disease, vaccinations, or surgical procedures, take place more commonly between 6 and 36 months of age, although it may occur as late as 6 years of age [12,13].…”

Section: Introductionmentioning

confidence: 99%

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Campos-Garcia

Chacón‐Camacho

Contreras-Capetillo

et al. 2019

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the degradation of l-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic deficiency leads to the accumulation of neurotoxins causing macrocephaly at birth, hypotonia and dystonia due to bilateral striatal injury, that evolves with aging, if untreated, to fixed dystonia and akinetic-rigid parkinsonism. In this article, we describe the results of molecular studies of 5 unrelated patients with GA1 in Southern Mexico. Mutational analysis identified 2 novel likely pathogenic GCDH variants (p.Leu130Pro and p.Gly391Val), 1 pathogenic variant that is predicted to cause a premature stop codon (p.Leu370*), and 2 previously reported pathogenic variants (p.Arg294Trp and p.Arg294Gln). The recurrence of the p.Leu130Pro variant (60% of mutant alleles) suggested a possible founder mutation effect. Our results expand the mutational spectrum in GA1 patients and support the importance of early diagnosis through newborn screening that promotes early nutritional treatment and prevents metabolic crisis.Take home messageGlutaric Aciduria type 1 has a wide mutational spectrum; the p.Leu130Pro variant may be a founder mutation in Southeast Mexico.

show abstract

Diagnóstico y seguimiento de 23 niños con acidurias orgánicas

Cited by 5 publications

References 0 publications

Propionic Acidemia Revisited: A Workshop Report

Propionic Acidemia Revisited: A Workshop Report

Planeación estratégica para la competitividad de pequeñas y medianas empresas del sector construcción e inmobiliario

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Contact Info

Product

Resources

About