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).

Capacidad ácidosupresora del omeprazol 20 mg comprimidos versus pantoprazol 20 y 40 mg comprimidos en voluntarios / Acid-supressing capacity of omeprazole 20 mg tablets vs pantoprazole 20 and 40 mg tablets. A pilot study in volunteers

OBJECTIVE: To compare the acid-supressing capacity of omeprazole (OZ) 20 mg tablets vs pantoprazole (PZ) 20 and 40 mg tablets, in healthy volunteers, with 24-h intragastric pH-metry. MATERIAL AND METHODS: Open, randomized, cross-over trial in 10 healthy volunteers; on days 0.8 and 22, 24-h intragastric pH-metry. Day 0, basal, thereafter 7 days with OZ or PZ 20 mg/day; day 8, pH-metry, then "wash out" for 7 days and thereafter 7 more days' therapy with PZ or OZ. On day 22 a 24-h intragastric pH control was performed again. In the last treatment stage, all of them were administered pantoprazole 40 mg/day for 8 days again with a 24-h pH recording at the end. RESULTS: 24-h pH-metry expressed as the time (hours) in which the pH was < or = 4 and the values as mean +/- standard deviation. BASAL 22.12 +/- 1.54, POST-OZ 9.78 +/- 6.72, POST-PZ 20 15.65 +/- 5.65, POST-PZ 40 8.57 +/- 5.93. Statistical evaluation with two way repeated measures ANOVA p < 0.0001. Newman Keuls post-hoc test: (1) vs (2) p < 0.003; (1) vs (3) p < 0.03; (2) vs (4) 0.65. CONCLUSIONS: According to the results it might be stated that both proton pump inhibitors have acid-supressing capacity and omeprazole in equal dosis is more effective than pantoprazole as acid-supressor, with statistically significative differences. There was no difference between 20 mg omeprazole and 40 mg pantoprazole.

Nuevo método para detección de infección y erradicación del Helicobacter pylori (Hp) por determinaciòn de antígenos en meteria fecal / A new method for detection H. pylori infection and erradication by stool antigen test

Nowadays technics for Helicobacter pylori detection in stools like culture, and PCR, are expensive and difficult to perform. The aim of this study was to evaluate ELISA test efficacy for detection of H. Pylori antigens in stools comparing this results with standarized technics like histology (Giemsa), ureasa test and UBT C 14. 26 patients were evaluated in this study, ages between 15-75 with upper gastrointestinal symptoms; all of them required gastroduodenal endoscopy, status H. Pylori was determined with methods upon mentioned. 24 hours after endoscopy H. Pylori antigens in stools with the technique Premier Platinum Htsa, Elisa were determined. The detection of H. Pylori antigens in stools accurately identified active H. Pylori infection. The performance characteristics of this non-invasive method was similar in sensibility and specificity to conventional tests

Gastroscopía virtual: experiencia preliminar / Virtual gastroscopy: preliminary experience

OBJECTIVE: To define the role of virtual gastroscopy (VG) in the detection of elevated lesions comparing its results with conventional endoscopy (CE) as the gold standard method. MATERIALS AND METHODS: Between December 2000 and July 2001, 19 patients were evaluated. The age ranged between 41 and 72 (mean 58.8 years old). VG and CE were performed in all the patients during the same week. VG were carried out with a multislice CT scanner (Mx 8000, Marconi Medical Systems). The technical parameters used were 3 mm with slices and 1.5 mm reconstruction intervals. The acquisition time was 22 seconds. Images were sent to a workstation (MxView, Marconi Medical Systems) where they were reprocessed in three different ways: 1) Bidimensionally 2) Tridimensionally 3) Virtual Endoscopy Findings of VG were compared with CE. RESULTS: VG detected 39 lesions, whereas CE detected 40 lesions. There were 39 true-positive findings, 2 true-negative findings, 0 false-positive findings and 1 false-negative findings. The Sensitivity (Se) was 97.5%; Specificity (Sp) was 100%, positive predictive value 100% and Negative predictive value 66%. CONCLUSIONS: VG is a new non-invasive method with high Se and Sp in the detection of elevated lesions. The actual role of VG consist in identification of gastric lesions and possibility to diagnose gastric disease

Convulsiones neonatales: diagnóstico y manejo / Seizures in the newborn: diagnosis and management

El recién nacido convulsiona en un escenario multifactorial (parto labioroso, hipoxia, acidosis/hipercapnia, hipoglicemia, hipocalcemia, etc). Las convulsiones neonatales constituyen en sí un marcador de morbilidad neurológica, y la mayor o menor dificultad en controlarlas no solo dependerá de la etiología, además llevará implícito el pronóstico del desarrollo del niño. La mayoría de las veces se diagnostican y manejan a través de la mera observación clínica, pero hoy es muy conocida la importancia del aporte de la electroencefalografía con técnicas poligráficas del monitoreo video-EEG, lo cual es esencial para identificarlas mejor y reconocer las crisis electrográficas, que pueden tener solo cambios autonómicos a veces imperceptibles y que sin duda son una pieza fundamental en el pronóstico. Se revisan las bases neurobiológicas de las crisis y su clasificación para el manejo clínico. Se analizan las etiologías más relevantes, y se hace especial mención a los errores innatos del metabolismo, entregando pautas de manejo terapéutico

Enfermedad de los tics: síndrome de Gilles de la Tourette: características clínicas de 70 pacientes / Gilles de la Touretteïs syndrome: clinical review and analysis of 70 chilean patients

Background: Tourette's syndrome is a childhood-onset hereditary neurobehavioural disorder believed to occur without geographical restrictions. Although there have been reports of this disorder worldwide just a few are from Latin America. Aim: To report a preliminary experience with a series of 70 patients and to review recent advances in this disorder. Patients and Method: We reviewed patients seen in pediatric and adult neurological clinics in Santiago, Chile, all of whom fulfilled clinical diagnostic criteria for Tourette Syndrome. Results: Seventy patients were studied, 54 males (77.1 percent) and 16 females (22.8 percent), their mean age at first evaluation was 13.6 years (range 2-46). The mean age of onset of symptoms was 6.4 (range 2-20), the mean time of follow-up was 3 years. Fifty-eight patients showed simple motor tics (blinking, facial grimacing, shoulder shrugging), whereas dystonic tics like head jerking were seen in 38 patients, torticollis in 6 and oculogyric movements in 2. Complex motor tics like jumping, antics, trunk bending and head shaking were present in 16 subjects. Vocal tics were predominantly of the simple type: sniffing, throat clearing, blowing, and whistling. Complex vocal tics were seen in 12 patients, five cases showed palilalia, 3 echolalia and only six displayed coprolalia (8.5 percent). Tics were of mild to moderate severity in most patients. Obsessive-compulsive disorder was observed in 22.8 percent and attention deficit and hyperactivity disorder were present in 35.7 percent. Forty-five patients (64.2 percent) had a first degree relative with tics, nine patients (12.8 percent) had a family history of obsessive-compulsive disorder. The current evidence involving desinhibition of cortico-striatum-thalamic-cortical neuronal circuits in the pathogenesis of this disorder is analyzed. Conclusion: Our report supports the recognized clinical homogeneity and genetical basis of TouretteÕs syndrome regardless of geographical region and ethnic origin