"Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series".

INTRODUCTION: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease. METHODS: Case series report of 8 patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis treated with cerliponase alfa who remained on clinical and paraclinical follow-up for up to 24 months before and after treatment. RESULTS: An atypical phenotype, associated with initial symptoms and late diagnosis, was present in 5/8 patients. The most frequent symptoms were seizures and developmental delay, with age of onset at 24 months (classical phenotype) and 48 months (atypical phenotype). A novel mutation (c.1438G > A) was found in two siblings. All of the patients received cerliponase alfa, and there were no serious adverse events. No decline in the clinical status greater than 2 points on Hamburg, Weill Cornell and CNL2 clinical assessment scale was observed during follow-up after treatment initiation. CONCLUSION: This is the first case series reported for neuronal ceroid lipofuscinosis patients in Colombia. In contrast with other reports, the majority of cases reported here displayed an atypical phenotype. Our study highlights the importance of early diagnosis and timely initiation of therapy, which is a feasible therapy, well tolerated by patients and accepted by caregivers in this country, generating a positive impact in the quality of life of CLN2 patients and on disease outcome.

Dataset of the synthesis parameters to deposit YSZ on stainless steel AISI 316L by sputtering technique.

The data presented in this article are related to the research previously published "improvement of adhesion and barrier properties of biomedical stainless steel by deposition of YSZ coatings using RF magnetron sputtering". It contains the structural, morphological, compositional and electrochemical characterization of bare AISI 316L substrate which was used as a substrate to coat with yttria-stabilized zirconia (YSZ). The chemical composition and topography analyses from X-ray photoelectron spectroscopy (XPS), Auger electron spectroscopy (AES) and micrographs from atomic force microscopy (AFM) as well as the roughness value of the YSZ-sputtered coating on AISI 316L substrates are presented as complementary data of the article.

Significados atribuidos a la educación: percepciones de niños y niñas del Servicio Nacional de Menores SENAME Chile / Meanings attributed to education: perceptions of children under National Service SENAME Chile

La educación formal constituye un pilar fundamental para los procesos de integración social que viven los niños, niñas y adolescentes que han sido vulnerados en sus derechos. Sin embargo, las experiencias escolares negativas que han vivido, podrían generar opiniones contrarias en relación al papel que cumple la educación formal en sus vidas. El objetivo de la presente investigación se orienta a conocer y describir cuál es el sentido, propósito y significado que tiene la educación formal para los niños y niñas que residen en el Centro de Reparación Especializado de Administración Directa (CREAD Galvarino), dependiente del Servicio Nacional de Menores de Chile (SENAME).La investigación fue de tipo cualitativa con un enfoque fenomenológico, y la recolección de datos se realizó mediante la aplicación de una entrevista semi-estructurada y un cuento proyectivo que es considerado como un método que aprecia la subjetividad en un sentido global u holista. El análisis de datos implicó la codificación de categorías analíticas clasificadas y agrupadas en las dimensiones de sentido, propósito y significado. En los resultados, se observa que experiencias escolares positivas agregan valor a ésta ocupación, que el propósito puede ser a corto o a largo plazo, y que el significado está notablemente influenciado por las opiniones que el entorno vierte respecto de la educación formal. Además, se encontraron diferencias significativas en las respuestas dadas por los niños que asistían a la Escuela “A” y la Escuela “B”.Los resultados promueven la reflexión respecto del rol que deben cumplir los CREAD en relación al derecho a la educación y a la resignificación de la educación formal en aquellas personas que están vivenciando un proceso de restitución de derechos e integración social.

Formal education constitutes a main support to the process of social integration of children and adolescents with rights violations. However, the negative experiences they had lived in educational sphere might generate contrary opinions related to role that formal education have in their lives. The objective of this investigation is oriented to know and describe the sense, purpose, and meaning that formal education has for children living in a Center of Direct Administration Repair CREAD, under the National Youth Service of Chile (SENAME). The research was qualitative with a phenomenological approach and data collection was performed by applying a semi-structured interview and a projective story is considered as a method to appreciate subjectivity in a global or holistic sense. Data analysis involved coding analytical categories sorted and grouped the dimensions of meaning, purpose and meaning. The results show that positive scholar experiences adds value to this occupation, that purpose can be short term or long-termed, and that the meaning is markedly influenced by the opinions social environment do about formal education. Also, significant differences were found between answers given by children that attended “School A” and “School B”. Results promote reflection regarding to the role CREAD must accomplish related to right to education, and about the redefinition of formal education meaning in those persons that are experiencing a process of rights restoration and social integration.

Developmental impairment of auditory evoked N1/P2 component in rats undernourished in utero: its relation to brain serotonin activity.

In utero undernourishment produces an elevation of L-tryptophan and serotonin in the brain, including the auditory cortex (A1), such changes seem to be related to an increase in the free fraction (FFT) of plasma L-tryptophan that is transported into the brain through the blood-brain barrier, where it is taken up by serotonergic neurons for serotonin synthesis. Our observations support that FFT has a positive correlation with L-tryptophan (L-Trp) and serotonin levels in the auditory cortex (r=0.95 and 0.82, respectively). Interestingly, a decreased intensity dependence of the auditory evoked N1/P2 component was found in gestationally undernourished animals during their postnatal development. The N1/P2 component had a negative correlation (r=0.81) with A1 serotonin, such that it reflects changes in the neurotransmitter concentration. The present observations suggest a relevant role of serotonin in modulating the activity of the auditory cortex. Since the N1/P2 component is mainly associated with the activity of A1 neurons, it may well be that perception of auditory information is impaired during this developmental period, in the early undernourished animals, possibly affecting cognitive processes. This may be relevant to humans since low birth weight babies that also suffered gestational undernourishment (fetal-placental insufficiency) present an increase in plasma FFT from birth up to 3 months of age. These findings support that the plasma FFT and the intensity dependence of the auditory evoked N1/P2 component relate one another and may be markers of changes of the brain serotonergic activity.

Germacranolides and a new type of guaianolide from Acanthospermum hispidum.

The aerial parts of an Argentinian collection of Acanthospermum hispidum afforded 26 sesquiterpene lactones, including the two guaianolides (1 and 2) having a novel oxygen bridge between C-4 and C-14, three new cis,cis-germacranolides (4, 7, and 8), and two new melampolides (25 and 26). Guaianolides 1 and 2 seem to derive biosynthetically from the germacranolide 27 having the (1)D(14, 15)D(5) conformation. The structures were elucidated using extensive spectroscopic analysis.

Serological responses of cattle after treatment and during natural re-infection with Fasciola hepatica, as measured with a dot-ELISA system.

The dot-ELISA reaction was used to study the dynamics of IgG titers in cattle naturally infected with Fasciola hepatica after anthelmintic treatment and during reinfection. Excretion/secretion products (ES) of the parasite were used as antigens for the dot-ELISA. IgG antibodies were no longer detectable by dot-ELISA, 4-6 months after nine animals received the first of three weekly doses of triclabendazole (15 mg kg(-1)) and were then maintained on a pasture free of F. hepatica metacercariae. Six fluke-free cattle began shedding F. hepatica eggs 3-6 months after grazing a pasture contaminated with metacercariae of the parasite. A detectable increase in dot-ELISA IgG antibody levels was observed 2-4 weeks after natural reinfection by grazing a similar pasture contaminated with F. hepatica metacercariae. The usefulness of the dot-ELISA system to diagnose chronic infection by serology is complicated by previous treatment against the parasite. It is concluded that the ES antigens can be useful to detect early infection of cattle with F. hepatica in a dot-ELISA system