Hormona de crecimiento en sangre de papel filtro para el diagnóstico de deficiencia de hormona de crecimiento / Growth hormone of dried blood spot for the diagnosis of growth hormone deficiency

INTRODUCCIÓN: El diagnóstico de deficiencia de hormona de crecimiento (DHC) es difícil de establecer, y se puede asociar a serias complicaciones, especialmente en el período neonatal. La prueba de estímulo de secreción de hormona de crecimiento (HC) se considera de elección para el diagnóstico, pero presenta complicaciones metodológicas y se asocia a efectos adversos. Los neonatos presentan aumento de la secreción de HC de forma fisiológica, siendo una ventana diagnóstica. OBJETIVO: Evaluar si la muestra de sangre en papel filtro tomada en el período neonatal, en contexto del tamizaje neonatal de hipotiroidismo congénito y fenilcetonuria, permite diferenciar pacientes con DHC, de los que no la presentan. PACIENTES Y MÉTODO: Estudio de casos y controles mediante determinación de concentración de HC en sangre de papel filtro extraída en período neonatal, comparando controles con DHC con casos con deficiencia descartada. Se realizó extracción de la muestra del papel filtro, obteniendo dos discos de 0,125 pulgada por cada uno de los pacientes desde el centro de la mancha de sangre del papel, para un ELISA de HC humana altamente sensible basado en el uso de anticuerpos policlonales dirigidos contra la HC humana recombinante de 22kDa de peso molecular. RESULTADOS: Se obtuvo un total de 7 casos de DHC y 10 controles. La mediana de concentración de HC de papel filtro en los casos es 2,0 ng/ml (Rango intercuartil 3,6 ng/ml) y controles 2,05 ng/mL (RIC 2,0 ng/ml), U de Mann-Withney 30,5 (p = 0,68). Los dos casos con deficiencia de hormonas hipofisarias múltiples (DHHM) presentan concentraciones menores a 1 ng/ml. CONCLUSIÓN: La muestra de papel filtro no permitió diferenciar a los pacientes con DHC de los casos controles, aunque los casos con DHHM presentaron concentraciones mucho menores, en comparación a la deficiencia de hormona de crecimiento aislada (DHCA).

INTRODUCTION: The diagnosis of growth hormone deficiency (GHD) is difficult to determine, and could be associated with severe complications, especially in the neonatal period. The stimulation test of growth hormone (GH) secretion is considered the gold standard for diagnosis, but it has methodological complications and is associated with adverse effects. Neonates present physiological increased secretion of GH, representing a diagnostic window. OBJECTIVE: To evaluate if the dried blood spot on filter paper obtained in the neonatal period, as part of a neonatal screening for con genital hypothyroidism and phenylketonuria, allows differentiating patients with GHD from those who do not have it. PATIENTS AND METHOD: Study of cases and controls by measuring the GH concen tration in dried blood spot on filter paper obtained in the neonatal period, comparing controls with GHD with cases with discarded deficiency. The sample was extracted from the filter paper, obtaining two 0.125 inch discs per each patient from the center of the blood spot on the paper, for a highly sen sitive ELISA assay for human GH based on the use of polyclonal antibodies against 22 kDa recom binant human GH. RESULTS: Seven cases of GHD and ten controls were obtained. The median GH concentration of the dried blood spot in the cases is 2.0 ng/ml (Interquartile range 3.6 ng/ml) and 2.05 ng/ml (Interquartile range 2.0 ng/ml) in the controls, Mann-Whitney U test 30.5 (p = 0.68). The two cases with multiple pituitary-hormone deficiency (MPHD) present concentrations lower than 1 ng/ml. CONCLUSION: The dried blood spot sample did not differentiate GHD patients from control cases, although MPHD cases present much lower concentrations compared to isolated growth hor mone deficiency (IGHD).

¿Tienen los corticoides inhalatorios un rol en la bronquiolitis? / Do inhaled corticosteroids have a role for bronchiolitis?

INTRODUCCIÓN: La bronquiolitis corresponde a una inflamación aguda de las vías aéreas pequeñas secundaria a infección viral y es una patología frecuente en menores de dos años. Se ha propuesto que el uso de corticoides inhalatorios durante una bronquiolitis podría reducir la recurrencia de sibilancias o el desarrollo de asma, sin embargo, existe controversia al respecto. MÉTODOS: Para responder a esta interrogante utilizamos Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante búsquedas en múltiples fuentes de información, incluyendo MEDLINE, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, reanalizamos los datos de los estudios primarios, realizamos un metanálisis y preparamos una tabla de resumen de los resultados utilizando el método GRADE. RESULTADOS Y CONCLUSIONES: Identificamos tres revisiones sistemáticas que en conjunto incluyen 11 ensayos aleatorizados. Concluimos que el uso de corticoides inhalatorios no reduce la recurrencia de sibilancias o asma en pacientes con bronquiolitis.

INTRODUCTION: Bronchiolitis consists of an acute small airways inflammation secondary to a viral infection and is a frequent pathology among children under 2 years. The use of inhaled corticosteroids during bronchiolitis has been proposed to reduce recurrent wheeze or asthma, however there is controversy about it. METHODS: To answer this question we used Epistemonikos, the largest database of systematic reviews in health, which is maintained by screening multiple information sources, including MEDLINE, EMBASE, Cochrane, among others. We extracted data from the systematic reviews, reanalyzed data of primary studies, conducted a meta-analysis and generated a summary of findings table using the GRADE approach. RESULTS AND CONCLUSIONS: We identified three systematic reviews including 11 randomized trials. We concluded that inhaled corticosteroids do not reduce recurrent wheeze or asthma in patients with bronchiolitis.

¿Deben utilizarse corticoides sistémicos en la bronquiolitis? / Should systemic corticosteroids be used for bronchiolitis?

INTRODUCCIÓN: La bronquiolitis es una inflamación aguda de las vías aéreas pequeñas debida principalmente a una infección viral. Es una patología frecuente en menores de dos años y en especial en menores de 12 meses. Se ha propuesto el uso de corticoides sistémicos en bronquiolitis, en especial en pacientes de mayor severidad, siendo controversial su utilidad. MÉTODOS: Para evaluarlo utilizamos Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante búsquedas en múltiples fuentes de información, incluyendo MEDLINE, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, reanalizamos los datos de los estudios primarios, realizamos un metanálisis y preparamos una tabla de resumen de los resultados utilizando el método GRADE. RESULTADOS Y CONCLUSIONES: Identificamos cuatro revisiones sistemáticas que en conjunto incluyeron 20 ensayos aleatorizados. Concluimos que el uso de corticoides sistémicos no aporta ningún beneficio en el tratamiento de la bronquiolitis, aún en pacientes con ventilación mecánica.

INTRODUCTION: Bronchiolitis is an acute small airways inflammation mainly caused by a viral infection. It is frequent in children under two years of age, particularly under 12 months. The use of systemic corticosteroids has been proposed for bronchiolitis, especially for severely ill patients. However, its efficacy is still controversial. METHODS: To answer this question we gathered information using Epistemonikos, the largest database of systematic reviews in health, which is maintained by screening multiple information sources, including MEDLINE, EMBASE, Cochrane, among others. We extracted data from the systematic reviews, reanalyzed data from primary studies, conducted a meta-analysis and generated a summary of findings table using the GRADE approach. RESULTS AND CONCLUSIONS: We identified four systematic reviews, including 20 randomized trials overall. We concluded the use of systemic corticosteroids has no benefit for the treatment of bronchiolitis, even for patients with mechanical ventilation.

¿Cómo utilizan los terapeutas ocupacionales instrumentos de evaluación basados en la ocupación?: resultados preliminares de una encuesta en Chile / How do occupational therapists use occupation-based assessments?: preliminary results of a survey in Chile

Existe una baja frecuencia en el uso de instrumentos de evaluación basados en la ocupación por parte de terapeutas ocupacionales. Los terapeutas ocupacionales recurren mayormente a instrumentos de otras disciplinas, lo que constituye un problema desde la disonancia entre teoría y práctica basadas en ocupación. Objetivo: Caracterizar el uso de instrumentos de evaluación con base en la ocupación por terapeutas ocupacionales en Chile. Método: Estudio cuantitativo transversal analítico, usando una encuesta por internet. Resultados: Se encuestaron un total de 388 terapeutas ocupacionales que trabajan en Chile. El 66 por ciento de los participantes afirmó utilizar instrumentos de evaluación basados en la ocupación, un 34 por ciento refirió no utilizarlos. Entre quienes usan instrumentos con base disciplinar, el 94 por ciento lo hace para intervención con usuarios(as) y utilizan en promedio 4 instrumentos; el 63 por ciento modifica los instrumentos para su uso y cerca del 78 por ciento aprendió a usar los instrumentos a través de su formación de pregrado o su ejercicio profesional. Los instrumentos más utilizados fueron aquéllos derivados del modelo de ocupación humana. Entre quienes no usan instrumentos basados en ocupación, el 97 por ciento refirió conocer alguno, pero no usarlos debido a limitaciones laborales o de tiempo (36 por ciento) o no considerarlos útiles para su contexto laboral (31 por ciento). Conclusiones: Existe un alto uso de instrumentos con base en la ocupación referido por terapeutas ocupacionales en Chile, no obstante, la frecuente modificación de los instrumentos problematiza su uso adecuado. Limitaciones laborales y la percepción de una baja utilidad de los instrumentos según área laboral, emergen como barreras para la utilización de instrumentos con base en la ocupación...

There is a low frequency in the use of occupation-based assessment tools by occupational therapists, who rely mostly on instruments from other disciplines. The latter becomes a problem as it creates a dissonance between theory and practice based on occupation. Aim: The purpose of this study was to characterize the use of occupation-based assessment tools by occupational therapists in Chile. Method: This quantitative study utilized a cross sectional analytical design. An online survey was used for data collection and descriptive statistics to analyze the results. Results: A total of 388 occupational therapists responded to the survey. 66 percent of the respondents reported using occupation-based assessment tools, 34 percent reported no use. Among those who use occupation-based instruments, 94 percent do so for intervention with clients and use on average 4 instruments; 63 percent modified instruments for use and about 78 percent learned how to use the instruments through their undergraduate training or practice. Most of the used instruments were those derived from the model of human occupation. Among those who do not use occupation-based instruments, 97 percent reported knowledge of some, but do not use them due to work or time constraints (36 percent) or consider them not useful for their work context (31 percent). Conclusions: There is a high use of occupation-based instruments reported by occupational therapists in Chile; however, adequate use can be problematized as occupational therapists report to modify instruments according to their particular needs. Results indicate that work constraints and a low perception of usefulness of the instruments in relation to work places are barriers to the use of occupation based instruments...

Un modelo transaccional o contextualizado de autonomía en personas con demencia / A transactional or contextualized model of autonomy in persons with dementia

La demencia es una condición que se caracteriza por la alteración de la memoria y otras funciones cognitivas y de la regulación conductual, de carácter adquirido y que repercute el desempeño y la funcionalidad de la persona. La demencia ha sido declarada una prioridad para la salud pública debido a su creciente frecuencia y es una de las principales causas de discapacidad y dependencia en las personas adultas mayores. La alteración cognitiva presente en la demencia se relaciona con la autonomía de las personas, lo que representa desafíos particulares para la Terapia Ocupacional como disciplina que busca la promoción de participación y de autonomía en las personas. Por medio de este ensayo se realiza una discusión en torno a diferentes paradigmas sobre la autonomía en la demencia, para visualizar el desarrollo de un marco conceptual de dicha relación que expanda su comprensión desde la determinación individual hacia la relación con los demás, el ambiente, la agencia y el transaccionalismo, permitiendo vislumbrar un mayor potencial de intervención de Terapia Ocupacional y de estudio desde la ocupación.

Dementia is a condition that features the impairment of cognition and other cognitive and behavioral functions. Dementia is an acquired condition that impacts performance and functionality and it has been declared a public health priority due to its increasing frequency and because it represents one of the major causes of disability and dependence among older adults. The cognitive impairment that dementia implies has an impact on the person’s capability to be autonomous, which is at the same time an important challenge to address by occupational therapy as a profession and discipline that aims to promote participation and autonomy. This essay offers a discussion about paradigms and notions about autonomy in dementia, in order to develop a conceptual framework that enhances an alternative notion of autonomy in dementia better related to the environment, agency and a transactional perspective of occupation.

Neumonía fatal en una niña inmunocompetente, asociada a herpes simple tipo 1 / Fatal pneumonia associated to herpes simplex 1, in an immunocompetent girl

Most reported cases of lower respiratory tract infection due to herpes simplex virus type-1 (HSV-1) occurs in immunocompromised patients, however there are few cases of viral infection in inmunocompentes critically ill patients (1-3). Objective: Report the case of fatal VHS-1 pneumonia in an immunocompetent patient. Case: A ten year old girl, immunocompetent, who presents respiratory symptoms and progresses rapidly to severe hypoxemia, instability and death. Lung biopsy reported Cowdry type A inclusions and the polimerasa chain reaction (PCR) was positive for HSV-1. We discuss the clinical features, diagnosis, treatment and prognosis in critically ill immunocompetent patients with HSV-1 infection in lower respiratory tract.

La mayoría de los casos reportados de infección por el virus herpes simplex tipo-1 (VHS-1) en el tracto respiratorio inferior ocurren en pacientes inmunosuprimidos; sin embargo, se han reportado casos de aislamiento del virus en pacientes inmunocompentes en estado crítico. Objetivo: Reportar el caso de neumonía grave y fatal por VHS-1 en un paciente inmunocompetente. Caso Clínico: Paciente de 10 años, sexo femenino, inmu-nocompetente, que inicia síntomas respiratorios y progresa rápidamente a hipoxemia severa, inestabilidad y muerte. La biopsia pulmonar reportó inclusiones de Cowdry tipo A y una reacción en cadena de la polimerasa (PCR) positiva para VHS-1. Discusión: Se comenta el cuadro clínico, diagnóstico, tratamiento y pronóstico en pacientes inmunocompetentes críticamente enfermos con infección por VHS-1 en el tracto respiratorio inferior.

Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años / Kinship determination using DNA markers

Autosomal and Y chromosome short tandem repeats (STRs) and mitochondrial DNA polymorphisms are the most commonly used molecular tools for determination of kinship. Aim: To report a revision of 1,120 kinship cases (paternity and others) analyzed in our laboratory. Material and methods: Revision of all kinship cases analyzed between years 2001-2006. Autosomal and Y chromosome STRs and mitochondrial DNA polymorphisms were analyzed in DNA extracted from blood samples. Results: Paternity was excluded in 27.2 percent of cases. This figure did not change significantly along years. Most paternity exclusions were confirmed by the discordance in 5 genetic markers (30.5 percent), followed by exclusion of 4 and 6 genetic markers (20.3 and 20 percent respectively). Two studied cases were paternal and maternal exclusions, corresponding to a change of children between two families. In one case, the paternal line was assessed through Y chromosome markers, studying 16 STRs of this chromosome, positively confirming this paternal relationship. Another case was analyzed for maternal line using mitochondrial DNA analysis. In six cases, a genetic marker with a paternal-sibling mutation, was observed. The criteria for the determination of mutation was the finding of only one discordant marker between at ¡east thirteen markers analyzed in each case. Also, an increase or decrease in one unit repeated in tandem (tetranucleotide) between the alleged father and the son was also required. One subject had a double mutation. In this case, paternity was confirmed analyzing thirteen autosomic STRs and five Y-STRs. Conclusions: The authors have acquired great expertise in kinship analysis and had established criteria to solve complex kinship cases.

Allele frequencies for 12 autosomal short tandem repeat loci in two bolivian populations

Two hundred and sixty unrelated subjects who asked for paternity testing at two Bolivian Laboratories in La Paz and Santa Cruz were studied. The loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, TH01, TPOX, and CSF1PO were typed from blood samples, amplifying DNA by polymerase chain reactions and electrophoresis. Allele frequencies were estimated by simple counting and the unbiased heterozygosity was calculated. Hardy-Weinberg equilibrium was studied and gene frequencies were compared between the two samples. All loci conformed to the Hardy-Weinberg law and allele frequencies were similar in samples from the two cities. The Bolivian gene frequencies estimated were significantly different from those described for Chile and the United States Hispanic-Americans for most of the loci.

Prevalencia al nacimiento de malformaciones congénitas y de menor peso de nacimiento en hijos de madres adolescentes / Prevalence of congenital malformations and low weight at birth among teenage mothers

BACKGROUND: In Chile, 14 to 16 per cent of births occur in teenage mothers. These mothers apparently have a higher frequency of premature labor, low birth weight and congenital malformations. AIM: To assess the frequency of prematurity, congenital malformations and weight at birth among the offspring of adolescent mothers. PATIENTS AND METHODS: The births occurred in a hospital between 1982 and 2001, were analyzed using the Latin American Collaborative Study for Congenital Malformations (ECLAMC) data base. Mothers were classified as teenagers when their age ranged between 10 and 19 years old and older when their age was over 20 years old. All women were subdivided as cases and controls. RESULTS: The sample was formed by 894 teenage and 806 older mothers. Seven percent of both teenage and older mothers had offspring with one or more malformations. The incidence of low birth weight newborns and of prematurity was also similar in both groups of mothers. CONCLUSIONS: In this sample, offspring of teenage mothers do not have a higher frequency of malformations, low birth weight or prematurity.

Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile. Período 1990-2001 / Prevalence of chromosomal aberrations at birth in the Clinical Hospital of Universidad de Chile, 1990-2001

BACKGROUND: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. AIM: To study the frequency of chromosomal aberrations in newborns with malformations. PATIENTS AND METHODS: In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations. RESULTS: In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3 per cent). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1 per cent died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively. CONCLUSIONS: A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously.

Frequency of the hypervariable DNA loci D18S849, D3S1744, D12S1090 and D1S80 in a mixed ancestry population of Chilean blood donors

Blood donors (N = 150) at San José Hospital (Santiago, Chile) were typed for one VNTR locus (D1S80) and three STR loci (D18S849, D3S1744, D12S1090). A questionnaire was used to determine the socioeconomic level of the donors, because it is known that some genetic markers (e.g., the ABO and Rh groups) are differentially distributed between different socioeconomic strata. This methodology revealed that two of the three socioeconomic strata distinguishable in Santiago were present in our sample of blood donors, with stratum II representing the middle strata and stratum III the low strata. Allele frequency was determined for each locus and socioeconomic stratum, and it was found that the allele distributions of each locus in socioeconomic strata II and III were statistically similar. All loci conformed to the Hardy-Weinberg law and there was no evidence for association between the alleles of the four loci, allelic frequencies being similar to those found in North American Hispanic populations. The results support the view that the analysis of these loci may have useful applications in population genetics as well as in identity tests