"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.

Contribución del farmacéutico cubano a la calidad de un ensayo clínico / Contribution of the Cuban pharmaceutical to the quality of a clinical trial

Una de las etapas culminantes del desarrollo de un producto en investigación es el ensayo clínico. Esta investigación se lleva a cabo en sujetos humanos y se dirige a verificar o descubrir los efectos clínicos, farmacológicos y/o farmacodinámicos del producto o equipo que se estudia.Para garantizar la calidad de estas investigaciones se utiliza como estándar las Buenas Prácticas Clínicas, donde se establecen requisitos a cumplir por los participantes, para asegurar calidad de los datos y protección de los derechos, integridad y confidencialidad de los sujetos.Un copartícipe importante es el farmacéutico, por el rol que desempeña. Este trabajo se centró en mostrar los elementos a tener en cuenta por el farmacéutico cubano para contribuir a elevar la calidad de un ensayo clínico.Dentro de los elementos a cumplir se encontraron; la cualificación, el cumplimiento y dominio del protocolo en lo referido al manejo del producto, el completamiento adecuado y en tiempo de la documentación que se genera según las funciones en el ensayo, velar por las condiciones de almacenamiento, vencimiento y devolución del producto, además de estar preparado para recibir actividades de monitoreo, auditoría y/o inspecciones, trabajar con enfoque de riesgo y por la mejora continua.El farmacéutico que participa en un ensayo clínico deberá dominar y aplicar los elementos identificados para tributar a la protección de los sujetos y confiablidad de los datos, elevando la calidad de los ensayos clínicos. (AU)

One of the culminating stages of the development of a product under investigation is the clinical trial. This research is carried out in human subjects and is aimed at verifying or discovering the clinical, pharmacological and/or pharmacodynamic effects of the product or equipment being studied.To guarantee the quality of these investigations, the Good Clinical Practices are used as standard, where requirements are established to be met by the participants, to ensure data quality and protection of the rights, integrity and confidentiality of the subjects.An important partner is the pharmacist. This work focused on showing the elements to be taken into account by the Cuban pharmacist to help raise the quality of a clinical trial.Among the elements to meet were found; the qualification, compliance and mastery of the protocol in relation to the handling of the product, the adequate and timely completion of the documentation that is generated according to the functions in the test, ensure the storage conditions, expiration and return of the product, in addition to be prepared to receive monitoring, audit and/or inspection activities, work with a risk approach and for continuous improvement.The pharmacist participating in a clinical trial must master and apply the elements identified to contribute to the protection of the subjects and the reliability of the data, raising the quality of the clinical trials. (AU)

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.

Xantomas planos diseminados normolipémicos asociados a gammapatía monoclonal de significado incierto / Diffuse normolipemic plane xanthomas associated with monoclonal gammopathy of undetermined significance

No disponible

Prúrigo nodular refractario tratado con talidomida / Refractory prurigo nodularis treated with thalidomide

No disponible

Tiroiditis posparto. Revisión / Postpartum thyroiditis. A review

La tiroiditis posparto (TPP) es una disfunción tiroidea transitoria de etiología autoinmune que se presenta de forma típica en el primer año tras el parto en mujeres sin enfermedad tiroidea conocida antes del embarazo. Puede cursar con síntomas de tirotoxicosis seguida de hipotiroidismo y recuperación posterior de la función tiroidea, o como tirotoxicosis o hipotiroidismo aislados. Un gran porcentaje de las pacientes que presentan TPP reproducirán esta enfermedad tras los siguientes embarazos. Una gran proporción de mujeres desarrollará hipotiroidismo permanente durante los 3-10 años siguientes a un episodio de TPP. Es importante para el médico de familia estar familiarizado con esta enfermedad, por su gran prevalencia, y para un correcto diagnóstico e intervención terapéutica. Es fundamental también su papel en el seguimiento de estas pacientes, dadas las implicaciones negativas que el hipotiroidismo establecido tiene sobre la reproducción, en una población en edad genésica. En este artículo se revisan las características principales de la TPP, así como su abordaje diagnóstico y terapéutico (AU)

Postpartum thyroiditis (PPT) is a transient thyroid dysfunction of autoimmune origin that can occur in the first year postpartum in women who have not been previously diagnosed with thyroid disease. It may start with clinical thyrotoxicosis followed by hypothyroidism and the subsequent recovery of thyroid function, or may just appear as isolated thyrotoxicosis or hypothyroidism. PPT recurs in high percentage of patients after subsequent pregnancies. Many women develop permanent hypothyroidism sometime during the 3 to 10 year period after an episode of PPT. It is important for family physicians to be familiar with this disease, due to its high prevalence in order to make a correct diagnosis and therapeutic intervention. Family doctors also play a crucial role in the monitoring of these patients, given the negative implications of established hypothyroidism on reproduction in the female population during their reproductive years. This article reviews the principle characteristics of PPT along with its diagnosis and treatment (AU)

[Postpartum thyroiditis. A review]. / Tiroiditis posparto. Revisión.

Postpartum thyroiditis (PPT) is a transient thyroid dysfunction of autoimmune origin that can occur in the first year postpartum in women who have not been previously diagnosed with thyroid disease. It may start with clinical thyrotoxicosis followed by hypothyroidism and the subsequent recovery of thyroid function, or may just appear as isolated thyrotoxicosis or hypothyroidism. PPT recurs in high percentage of patients after subsequent pregnancies. Many women develop permanent hypothyroidism sometime during the 3 to 10 year period after an episode of PPT. It is important for family physicians to be familiar with this disease, due to its high prevalence in order to make a correct diagnosis and therapeutic intervention. Family doctors also play a crucial role in the monitoring of these patients, given the negative implications of established hypothyroidism on reproduction in the female population during their reproductive years. This article reviews the principle characteristics of PPT along with its diagnosis and treatment.

Evaluation of soil biodesinfestation with crop and garden residues in the control of root-knot nematodes populations.

Fresh crop and garden residues were applied both under laboratory conditions and in commercial greenhouse in order to asses their effect on soil nematodes populations and soil fertility. In the laboratory experiments, dosages of 5 to 20 g of cabbage residues, chicken manure, cabbage residues+chicken manure, grass+chicken manure, as well as leaves and stems of orange tree, pine tree, oleander, olive tree, palm tree and boxwood were mixed with 500 g soil having root-knot nematodes (Meloidogyne incognita) and soil moisture was adjusted at field capacity. A control treatment without residues was also included. The mixtures were kept into plastic bags, with four replications, and the bags were incubated for four weeks at 30 degrees C, when nematological and soil fertility analyses were carried out. In general, all these materials significantly (P < 0.05) reduced M. incognita populations and increased saprophagous nematodes, with slight effects on soil fertility except for the K increase with residues application. Tomato plants susceptible to M. incognita were planted in pots with 300 cm3 of the treated soils and kept for five weeks in a growth chamber (24 +/- 1 degrees C, 14 hours light), when root galling indices were evaluated. Most materials applied reduced root galling indices as regards to the control. In the greenhouse experiment, cabbage residues, cabbage residues+chicken manure, grass+chicken manure and grass+cabbage residues were applied to the soil and covered with a polyethylene sheet for 5 weeks. A cabbage residues:chicken manure treatment and a control (not-amended) treatment, without polyethylene, were also included. At the end of the experiment, the nematological analysis showed that all materials successfully controlled M. incognita populations, reaching 86-100% mortality with organic amendments vs. 6% for the control. After the greenhouse biodesinfestation experiment, a tomato crop was grown for one month, when root galling indices were determined. All materials significantly reduced this value from 4.75 in the control to 1.0-2.25 with the organic amendments, except for the cabbage residues+chicken manure treatment without polyethylene (index = 4.0). Our results show that fresh crop and garden residues successfully reduced M. incognita populations and root galling indices when applied with polyethylene covers, having good potential to be considered in integrated management programs.

Revisión sobre la etiopatogenia, diagnóstico y tratamiento actual de la distonía ocupacional / Review on etiopathogeny, diagnosis and present treatment of occupational dystonia

En los últimos años ha habido un creciente interés en las patologías ocupacionales. La distonía ocupacional es una de las alteraciones más oscuras, tanto en su etiología como en su patogenia. Se ha descrito como un trastorno motor de intensidad variable caracterizado por la contracción involuntaria de determinados grupos musculares que interfiere en la habilidad del individuo. La distonía ocupacional se ha estudiado principalmente en músicos y escribientes, aunque se ha descrito también en deportistas. Los estudios neurofisiológicos, neurorradiológicos y vasculares han añadido más información sobre el cuadro. Tras los últimos trabajos parece evidente que el origen de la distonía se encuentra en una alteración en los circuitos de los ganglios basales que conllevarían unas alteraciones sensoriales y motoras. Asimismo, existen diferentes pautas terapéuticas que, aunque precisan de estudios más amplios, van dirigidas a un programa de reeducación sensorial con el objetivo de una reversión en la representación del córtex sensorial. El objetivo de este estudio ha sido realizar una revisión bibliográfica (Medline y PubMed 1985-2004) sobre el estado actual de la etiopatogenia, diagnóstico y tratamiento de la distonía ocupacional

In recent years, there has been a growing interest in occupational diseases. Occupational dystonia is one of the most obscure alterations in regards to its etiology and pathogeny. It has been described as a motor disorder having variable intensity characterized by involuntary contractions of certain muscular groups that interfere in the individual's skill. Occupational dystonia has been mainly studied in musicians and clerks although it has also been described in athletes. Neurophysiological, neuroradiological and vascular studies have added more information on the picture. After the last studies, it seems clear that the origin of dystonia is found in an alteration in the basal ganglia circuits that entails sensorial and motor alterations. In addition, there are different therapeutic guidelines, which although they require larger studies, are aimed at a sensorial reeducation program in order to have a reversion in sensorial cortex representation. This study has aimed to conduct a bibliographic review (Medline and PubMed 1985-2004) on the present status of the etiopathogeny, diagnosis and present treatment of occupational dystonia

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