[18F-fluoro-L-DOPA PET-CT imaging combined with genetic analysis for optimal classification and treatment in a child with severe congenital hyperinsulinism]. / Estudio PET-TC con 18F-fluoro-L-DOPA combinado con el análisis genético para la optimización de la clasificación y tratamiento de un niño con hiperinsulinismo congénito grave.

BACKGROUND: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy. The differential diagnosis between focal and diffuse forms of CHI is of great importance when planning surgery. The aim of this article is to show the first case of focal CHI diagnosed in Spain using PET-CT imaging combined with genetic analysis. METHODS: A 13 month child with CHI and normal conventional radiological investigations treated with diazoxide, diet control and feeding by gastrostomy is presented. Genetic analysis of ABCC8 and KCNJ11 genes and PET-TAC using 18F-fluoro-L-DOPA were performed. RESULTS: A pathological mutation (G111R) in the paternal allele of ABCC8 was detected. PET-CT scanning using 18F-fluoro-L-DOPA showed a focus of high uptake in the body of the pancreas compatible with adenoma that was hystopathologically confirmed. After surgical resection the patient is asymptomatic without needing either pharmacological treatment or dietetic control. CONCLUSIONS: The combination of genetic analysis and 18F-fluoro-L-DOPA PET-TAC shows a great potential for the identification, location and guideline for surgery in CHI.

Estudio PET-TC con 18F-fluoro-L-DOPA combinado con el análisis genético para la optimización de la clasificación y tratamiento de un niño con hiperinsulinismo congénito grave / 18F-fluoro-L-DOPA PET-CT imaging combined with genetic analysis for optimal classification and treatment in a child with severe congenital hyperinsulinism

Fundamento: La distinción entre el hiperinsulinismo congénito (CHI) focal y difuso es esencial de cara al tratamiento y pronóstico de la enfermedad. El objetivo es presentar el primer caso de CHI focal diagnosticado en España combinando los estudios genético y PET-TC. Métodos: Paciente de 13 meses con CHI y pruebas de imagen convencionales normales, tratado con diazóxido, control dietético y alimentación por gastrostomía. Se analizó la secuencia de los genes ABCC8 y KCNJ11, y realizó una PET-TC con 18F-fluoro-L-DOPA. Resultados: Se detectó una mutación patogénica (G111R) en el alelo paterno de ABCC8. La PET-TC demostró un foco hipercaptante en el cuerpo del páncreas compatible con un adenoma confirmado histopatológicamente. Tras la cirugía el paciente continúa asintomático sin tratamiento farmacológico ni medidas dietéticas. Conclusiones: La combinación del análisis genético y la PET-TC con 18F-fluoro-L-DOPA muestra un gran potencial para la identificación, localización y guía de la cirugía del CHI (AU)

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy. The differential diagnosis between focal and diffuse forms of CHI is of great importance when planning surgery. The aim of this article is to show the first case of focal CHI diagnosed in Spain using PET-CT imaging combined with genetic analysis. Methods: A 13 month child with CHI and normal conventional radiological investigations treated with diazoxide, diet control and feeding by gastrostomy is presented. Genetic analysis of ABCC8 and KCNJ11 genes and PET-TAC using 18F-fluoro-L-DOPA were performed. Results: A pathological mutation (G111R) in the paternal allele of ABCC8 was detected. PET-CT scanning using 18F-fluoro-L-DOPA showed a focus of high uptake in the body of the pancreas compatible with adenoma that was hystopathologically confirmed. After surgical resection the patient is asymptomatic without needing either pharmacological treatment or dietetic control. Conclusions: The combination of genetic analysis and 18F-fluoro-L-DOPA PET-TAC shows a great potential for the identification, location and guideline for surgery in CHI (AU)

[FDG-PET: a new diagnostic approach in hip prosthetic replacement]. / La 18FDG-PET: una nueva aproximación diagnóstica en la infección protésica de cadera.

Infection following hip arthroplasties can present a diagnostic challenge. No test is 100 % sensitive and 100 % specific; this prospective study was undertaken to evaluate the utility of FDG-PET imaging for diagnosing infected joint replacements. 24 hip joint replacements were studied prospectively and we have complete diagnoses with clinical signs and symptoms, laboratory test, radiography, joint aspiration, radionuclide imaging including FDG-PET, and histopathologic examination. 11 of 24 prostheses were infected. The sensitivity and specificity of PET for detecting infection associated with prostheses were 64,3 % and 64,7 % respectively, in our hands. FDG imaging is not useful in patients with suspected prosthetic infection like a screening test.

[Study of myocardial viability using single-photon emission computed tomography with 201-thallium and re-injection in 4 series (early and late images]. / Estudio de la viabilidad miocárdica mediante tomografía de emisión de fotón único con talio-201 y reinyección en 4 series (imágenes precoces y tardías).

OBJECTIVE: The present study was designed to determine whether 24-hour imaging after thallium reinjection or imaging obtained shortly after reinjection provides better results regarding reversibility of fixed perfusion defects observed in conventional stress-redistribution imaging. PATIENTS AND METHODS: We studied 24 patients undergoing stress-redistribution thallium tomography with fixed defects (15 exercise, 6 adenosine, 3 dobutamine). All patients had coronary angiography and 17 a history of myocardial infarction. After obtaining the redistribution images, 1 mCi thallium was injected at rest, and images were acquired at 30 minutes and 24 hours after reinjection. The tomograms obtained were divided into 12 segments and analyzed quantitatively. RESULTS: Of the 190 abnormal segments on the stress images, 53 (28%) demonstrated improved thallium uptake on redistribution images and 137 had persistent defects. Shortly after reinjection, 33 (24%) segments had improved thallium uptake and 104 had persistent defects, 29 (28%) of which showed further improvement in the 24-hour study. In patients with myocardial infarction, of the 36 fixed severe defects, 9 (25%) had improved thallium uptake shortly after reinjection, increasing activity from 36 +/- 10% to 53 +/- 8%, and 22 (61%) defects improved at 24 hours, increasing activity from 37 +/- 8% to 56 +/- 6%. Therefore, 13 irreversible segments in the short-term study after reinjection were reversible on 24-hour images. CONCLUSION: These data indicate that 24-hour imaging after thallium reinjection provides better results regarding reversibility of fixed perfusion defects observed in conventional stress-redistribution imaging than imaging obtained shortly after reinjection.

[Myocardial perfusion reserve studied by single-photon emission-computed tomography with thallium-201 and a drug stress test with adenosine triphosphate in patients with cardiovascular risk factors]. / Estudio de la reserva de perfusión miocárdica mediante tomografía de emisión de fotón único con talio-201 y estrés farmacológico con adenosina trifosfato en pacientes con factores de riesgo cardiovascular.

INTRODUCTION AND OBJECTIVE: Recent studies have suggested that the evaluation of coronary reserve is a sensitive method in the early detection of vascular alterations before plaques exist, and certainly before clinical detection of atherosclerotic lesions. Single-photon emission-computed tomography (SPECT) with thallium-201 (201Tl) provides a noninvasive tool for evaluating myocardial perfusion reserve. The objective of this study was to measure the myocardial perfusion reserve in two groups of subjects, some with and some without cardiovascular risk factors and in a group of patients with coronary artery disease. METHODS: Seventy-four subjects, divided into three groups, were recruited to assess regional and global myocardial perfusion reserve. The control group consisted of 11 asymptomatic individuals without cardiovascular risk factors. The second group was composed of 49 patients with one or more risk factors. Finally, the third group included 14 patients with coronary artery disease. 201Tl-SPECT at rest and after pharmacological stress with a 7 minute adenosine triphosphate (ATP) infusion (140 micrograms/kg/min) was performed in all patients. ATP minus rest value subtraction was applied in order to obtain the stress data. Relative myocardial perfusion reserve indices were calculated as the ratio between stress and rest values. RESULTS: Global and regional myocardial perfusion reserves of the vascular territories were significantly lower in patients with cardiovascular risk factors than in control subjects (Global: 1.48 +/- 0.19 vs 1.81 +/- 0.08, LAD: 1.52 +/- 0.21 vs 1.85 +/- 0.09, CX: 1.45 +/- 0.2 vs 1.79 +/- 0.86, RCA: 1.47 +/- 0.2 vs 1.79 +/- 0.86) and higher than in patients with coronary artery disease (Global: 1.48 +/- 0.19 vs 1.31 +/- 0.14, LAD: 1.52 +/- 0.21 vs 1.35 +/- 0.15, CX: 1.45 +/- 0.2 vs 1.2 +/- 0.24). Univariate linear regression analysis in a group of 40 patients with high risk lipid profiles revealed a significant negative correlation between myocardial perfusion reserve and total cholesterol (r = -0.35; p = 0.01), LDL-cholesterol (r = -0.38; p = 0.036) and LDL/HDL ratio (r = -0.39; p = 0.029). CONCLUSION: Determination of myocardial perfusion reserve with 201Tl-SPECT allows the detection of abnormal vasodilatory response to intravenous ATP in patients with cardiovascular risk factors. These patients have higher reserves than patients with coronary disease, which might suggest an early phase of atherosclerosis.