Feocromocitoma y paraganglioma en la infancia: a propósito de 2 casos / Pheochromocytoma and paraganglioma in childhood: A report of 2 cases report

Los feocromocitomas y los paragangliomas son tumores neuroendocrinos infrecuentes en pediatría; sin embargo, estos representan el tumor endocrino más frecuente en la infancia. La mayoría son esporádicos, cobrando mayor relevancia los síndromes familiares en edad pediátrica. Los avances en el campo de la genética, en bioquímica y en técnicas de imagen han adaptado el manejo de estos tumores; de modo que el estudio bioquímico debe comenzarse ante todo diagnóstico clínico de sospecha, seguido del estudio por imagen y molecular, más aún ante la existencia de un síndrome familiar conocido. Revisamos aspectos clínicos, diagnósticos y terapéuticos a propósito de 2 casos, presentando el segundo paciente antecedentes de neurofibromatosis tipo 1

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors in children and most of them are sporadic. However, they represent the most common endocrine tumor in childhood, and hereditary tumor syndromes are most relevant in these age. Advances in genetic, biochemistry and imaging techniques have revised the management of these tumors; thus A biochemical study should be always initiated once the clinical diagnosis is suspected, followed by imaging and molecular studies, particularly in the context of known familial disease. The diagnostic and therapeutic features are reviewed after the presentation of two clinicalcases, where the second one is a patient with type 1 Neurofibromatosis

[Pheochromocytoma and paraganglioma in childhood: a report of 2 cases report]. / Feocromocitoma y paraganglioma en la infancia: a propósito de 2 casos.

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors in children and most of them are sporadic. However, they represent the most common endocrine tumor in childhood, and hereditary tumor syndromes are most relevant in these age. Advances in genetic, biochemistry and imaging techniques have revised the management of these tumors; thus A biochemical study should be always initiated once the clinical diagnosis is suspected, followed by imaging and molecular studies, particularly in the context of known familial disease. The diagnostic and therapeutic features are reviewed after the presentation of two clinical cases, where the second one is a patient with type 1 Neurofibromatosis.

Síndrome de encefalopatía posterior reversible: 5 casos relacionados con quimioterapia / Posterior reversible encephalopathy syndrome: 5 chemotherapy related cases

El síndrome de encefalopatía posterior reversible, previamente conocido como leucoencefalopatía posterior reversible, es una entidad manifestada clínicamente por cefalea, disminución del nivel de conciencia, convulsiones y alteraciones visuales, y radiológicamente como edema cerebral, predominantemente de la sustancia blanca de regiones parietooccipitales en la resonancia magnética. Son múltiples las situaciones que pueden desencadenar el cuadro. Exponemos 5 casos de pacientes oncológicos, 4 de ellos con leucemia linfoblástica aguda, que desarrollaron el síndrome cuando se encontraban bajo tratamiento quimioterápico. Un diagnóstico precoz y un adecuado tratamiento de la hipertensión y las convulsiones son la base para evitar la aparición de secuelas en estos pacientes

Posterior reversible encephalopathy syndrome, previously known as Reversible posterior leukoencephalopathy syndrome, is a clinical-radiological condition characterized by headache, altered mental functioning, seizures and visual alterations, with the magnetic resonance imaging showing cerebral edema, predominantly in the white matter with posterior distribution. Multiple clinical conditions can act as triggers. We present five oncology patients, four of them with acute lymphoblastic leukemia, receiving chemotherapy when they presented with this pathology. A prompt diagnosis, an appropriate therapy for hypertension, and a rapid control of the seizures are the keys to avoiding sequelae

[Posterior reversible encephalopathy syndrome: 5 chemotherapy related cases]. / Síndrome de encefalopatía posterior reversible: 5 casos relacionados con quimioterapia.

Posterior reversible encephalopathy syndrome, previously known as Reversible posterior leukoencephalopathy syndrome, is a clinical-radiological condition characterized by headache, altered mental functioning, seizures and visual alterations, with the magnetic resonance imaging showing cerebral edema, predominantly in the white matter with posterior distribution. Multiple clinical conditions can act as triggers. We present five oncology patients, four of them with acute lymphoblastic leukemia, receiving chemotherapy when they presented with this pathology. A prompt diagnosis, an appropriate therapy for hypertension, and a rapid control of the seizures are the keys to avoiding sequelae.

Medición del T2* hepático y cardíaco en la hemocromatosis secundaria / Liver and heart T2* measurement in secondary haemochromatosis

Objetivo. Valorar la sobrecarga férrica mediante el cálculo del valor T2* en el hígado y el miocardio en los pacientes con hemocromatosis secundaria. Evaluar la correlación de los valores obtenidos con los niveles de ferritina en sangre y la concentración de hierro hepático (CHH) calculada mediante resonancia magnética (RM), y la correlación de los valores T2* entre sí. Material y métodos. Se incluyeron 16 pacientes (13 varones y 3 mujeres), evaluados entre los años 2008 y 2009, con una edad media de 61 años. Quince eran pacientes politransfundidos y uno estaba diagnosticado de anemia sideroblástica hereditaria. Se estudió la ferritina en sangre, la CHH por RM, la función cardíaca mediante RM y el valor T2* mediante secuencias multieco en el hígado (TR/TE1/ΔTE/n°ecos/α: 21/1,18/1.0/20/35°) y el miocardio (26/1,04/0.8/30/60°). Se realizó el análisis de correlación-regresión de los valores T2* cardíaco y hepático con los valores de ferritina y CHH, y entre sí. Resultados. Trece pacientes mostraron valores de ferritina superiores a 1.000 ng/ml (mediana/mínimo/máximo: 1.762/294/3.785 ng/ml). Trece pacientes presentaron CHH elevada, mayor de 80 μmol/g (mediana/mínimo/máximo: 125,4/41,2/241,5 μmol/g). En todos los casos la función cardíaca estaba preservada. En 15 pacientes el valor T2* hepático fue menor de 6,3 ms. Solo en un caso, el valor T2*miocárdico fue menor de 20 ms. Se observó una alta correlación para los valores T2*hepático/CHH (r: -0,912). La correlación fue estadísticamente significativa para T2* hepático/ferritina (r: -0,541). La correlación T2*miocárdico/ferritina, T2*miocárdico/CHH y T2*miocárdico/T2*hepático no fue estadísticamente significativa. Conclusión. Los valores T2* hepático muestran una alta correlación con la CHH y una correlación estadísticamente significativa con la ferritina. No se observó correlación entre los valores T2* miocárdico y la ferritina en sangre, la CHH, ni con el valor T2* hepático (AU)

Objective: To determine whether there is iron overload by calculating the T2* value in the liver and myocardium in patients with secondary haemochromatosis. To analyse the correlation of the values obtained with the iron levels in blood, with the liver iron concentration (LIC) calculated using magnetic resonance (MR) imaging, and the correlation between them. Material and methods: A total of 16 patients (13 males, 3 females), with a mean age of 61 years, were included and evaluated in the years 2008 and 2009. Fifteen of them had received multiple transfusions, and one was diagnosed with hereditary sideroblastic anaemia. The measurements included, blood ferritin, LIC by MRI, cardiac function using MRI and the T2* value by means of multi-echo sequences in the liver (TR/TE1/ TE/No of echos/ : 21/1,18/1.0/20/35◦) and myocardium (26/1.04/0.8/30/60◦). A correlation-regression analysis was performed by comparing the cardiac and liver T2* values with the ferritin, LIC and between each of them. Results: A total of 13 patients had ferritin values greater than 1000 ng/ml (median/minimum/maximum: 1762/294/3785 ng/ml). An increased LIC greater than 80 mol/g (median/minimum/maximum: 125.4/41.2/241.5 mol/g) was observed in 13 patients. In all cases cardiac function was conserved, and in 15 cases the liver T2* value was less than 6.3 ms. The myocardium T2* value was less than 20 ms. in only one case. A high correlation was observed between the liver T2* values and the LIC (r: -0.912). The correlation was statistically significant between the liver T2* value and ferritin (r: -0.541). The correlations between myocardium T2* and ferritin, myocardium T2* and LIC, and myocardium T2* and liver T2* were not statistically significant. Conclusions: The liver T2* showed a high correlation with LIC and a statistically significant correlation with ferritin. No association was observed between the myocardium T2* values and ferritin in blood, the LIC or the liver T2* value (AU)

Cross-sectional validation study of patient-reported outcomes in patients with paroxysmal nocturnal haemoglobinuria.

BACKGROUND: Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, acquired, clonal haemopoietic stem cell disorder that causes chronic intravascular haemolysis, increases the risk of thrombosis and results in significant patient morbidity and mortality. The symptoms of PNH may have a major impact on patient quality of life. AIMS: To assess patient fatigue and health-related quality of life in 29 patients with PNH using the Functional Assessment of Chronic Illness Therapy Fatigue subscale version 4 (FACIT-Fatigue) and the European Organization for Research and Treatment of Cancer Quality-of-Life Questionnaire-C30, version 3 (EORTC QLQ-C30). METHODS: Following completion of the questionnaires, patients were interviewed to assess the validity, clarity, relevance and comprehensiveness of the assessments. RESULTS: Overall, patients considered both the FACIT-Fatigue and EORTC QLQ-C30 instruments to be relevant and adequate in assessing the level of PNH-associated fatigue and other quality-of-life measures. The FACIT-Fatigue questionnaire was considered to be clear and to comprehensively cover PNH-related fatigue. The EORTC QLQ-C30 instrument was considered to be easy to understand, but of an overall lower relevance, although some differences between countries were observed. Patients suggested additional questions that could be incorporated into future EORTC QLQ-C30 versions to make it more relevant to PNH. CONCLUSIONS: This study confirms the validity of the FACIT-Fatigue and the EORTC QLQ-C30 questionnaires in this patient population and their routine use should be considered in the management of patients with PNH.

[Liver and heart T2* measurement in secondary haemochromatosis]. / Medición del T2* hepático y cardíaco en la hemocromatosis secundaria.

OBJECTIVE: To determine whether there is iron overload by calculating the T2* value in the liver and myocardium in patients with secondary haemochromatosis. To analyse the correlation of the values obtained with the iron levels in blood, with the liver iron concentration (LIC) calculated using magnetic resonance (MR) imaging, and the correlation between them. MATERIAL AND METHODS: A total of 16 patients (13 males, 3 females), with a mean age of 61 years, were included and evaluated in the years 2008 and 2009. Fifteen of them had received multiple transfusions, and one was diagnosed with hereditary sideroblastic anaemia. The measurements included, blood ferritin, LIC by MRI, cardiac function using MRI and the T2* value by means of multi-echo sequences in the liver (TR/TE1/ΔTE/No of echos/α: 21/1,18/1.0/20/35°) and myocardium (26/1.04/0.8/30/60°). A correlation-regression analysis was performed by comparing the cardiac and liver T2* values with the ferritin, LIC and between each of them. RESULTS: A total of 13 patients had ferritin values greater than 1000ng/ml (median/minimum/maximum: 1762/294/3785ng/ml). An increased LIC greater than 80µmol/g (median/minimum/maximum: 125.4/41.2/241.5µmol/g) was observed in 13 patients. In all cases cardiac function was conserved, and in 15 cases the liver T2* value was less than 6.3ms. The myocardium T2* value was less than 20ms. in only one case. A high correlation was observed between the liver T2* values and the LIC (r:-0.912). The correlation was statistically significant between the liver T2* value and ferritin (r:-0.541). The correlations between myocardium T2* and ferritin, myocardium T2* and LIC, and myocardium T2* and liver T2* were not statistically significant. CONCLUSIONS: The liver T2* showed a high correlation with LIC and a statistically significant correlation with ferritin. No association was observed between the myocardium T2* values and ferritin in blood, the LIC or the liver T2* value.

PP113. NT-Pro-BNP: A predictor of adverse maternal outcomes in hypertensive gestational syndromes?

INTRODUCTION: BNP (brain-type natriuretic peptide) is released by cardiomyocytes, as a pro-hormone, in response to parietal stress augmentation and systemic endothelial dysfunction, and then Pro-BNP is cleaved into: NT-Pro-BNP and BNP fragment in 1:1 ratio. BNP is considered an important component of the adaptative mechanism that helps to reduce the load on the myocardium, through systemic vasodilatation, reduction in venous return and reduction in vascular volume. Hypertensive Gestational Syndromes (HGS) are considered to share those mechanisms, but the role of NT-Pro-BNP to evaluate maternal outcomes, is not well defined. OBJECTIVES: Evaluate the correlation between NT-Pro-BNP: in Normotensive Pregnant Women (NPW) and HGS with established markers of adverse maternal outcomes in HGS. METHODS: We performed a transversal case-control study to analyze NT-Pro-BNP in 68 patients with HGS vs 80 NPW admitted at a private hospital, and to evaluate its correlation with established clinical and blood markers of maternal outcomes at hospital admission. Patients with renal chronic failure, previous cardiac disease and mola were excluded. We used the Pearson and Kendall correlation test for quantitative variables and the non-parametrical Mann-Whitney test for qualitative variables. RESULTS: The average maternal age was: NPW 33.2 years, HGS 33.8 years; average gestational age at delivery: NPW 38.5 weeks, HGS 35.3 weeks; first pregnancy: NPW 36%, HGS 56%; birth average weight: NPW 3351.6g, HGS 2615.5g; media NT-Pro-BNP: NPW 59.7pg/ml, HGS 704.8pg/ml. None of the NPW had high levels of NT-Pro-BNP. In the HGS group: 57% had preeclampsia, 10% HELLP, 25% gestational hypertension and 8% chronic hypertension. In the HGS media values for: proteinuria 1.5g/24h, glutamic-oxalacetic transaminase 86 UI/L, platelets 231,688/mm(3), glutamic-pyruvic transaminase 100 UI/L, uric acid 48mg/dl, hematocrit 33%, alkaline phosphatase 152 UI/L, lactic dehydrogenase 284 UI/L. In the HGS the following significant correlations were found: for NT-Pro-BNP relation to: proteinuria (0.34 p=0.001), glutamic-oxalacetic transaminase (0.375 p=0.001), platelets (-0.353 p=0.001), glutamic-pyruvic transaminase (0.317 p=0.001), uric acid (0.398 p=0.001), hematocrit (-0.183 p=0.048), gestational age at delivery (-0.29 p=0.002), birth average weight (-0.23 p=0.018), cardiac failure ( p=0.001), number of used anti-hypertensive drugs (0.367 p=0.004), lactic dehydrogenase (0.65 p=0.001). The media NT-Pro-BNP was: 936pg/ml in preeclampsia , 1909pg/ml in HELLP, 150pg/ml in gestational hypertension and 107pg/ml in chronic hypertension. The highest NT-Pro-BNP level was 12,386pg/ml in a patient with systolic dysfunction (LVEF: 35%) associated with preeclampsia. After delivery, 13% HGS women had persistent hypertension post-partum, and this did not correlate with the level of NT-Pro-BNP at hospital admission. CONCLUSION: NT-Pro-BNP significantly correlates with established markers of adverse maternal outcomes in HGS, probing to be useful in routine maternal evaluation in this setting.

The utility of the Sysmex XE-2100 analyzer's NEUT-X and NEUT-Y parameters for detecting neutrophil dysplasia in myelodysplastic syndromes.

The diagnosis of myelodysplastic syndromes (MDS) is based on morphological changes in the blood and bone marrow. The parameters NEUT-X and NEUT-Y of the Sysmex XE-2100 analyzer could help detect neutrophil dysplasia. A control group of 50 patients, along with 50 postpartum patients, 50 anemias, 50 leukopenias, 50 patients with microscopically visible hypergranulated neutrophils and 50 MDS patients were assessed. The NEUT-X and NEUT-Y values (mean +/- SD) for the control group were 1346 +/- 28.2 and 420 +/- 19.3, respectively, with the anemia and leukopenia groups giving similar values. The postpartum and hypergranulated neutrophils groups presented higher values (P < 0.05), whereas the values in the MDS group were 1286 +/- 72.8 and 385 +/- 50.9 (P < 0.05), respectively. There were no differences between the morphological MDS types. The NEUT-X and NEUT-Y values in MDS patients with optical hypogranulation were significantly lower than for MDS patients without optical hypogranulation. NEUT-X and NEUT-Y values lower than 1298 and 398, respectively, would have a specificity for detecting MDS of 94% and 91% and would detect 60% and 56% of cases, respectively, whereas they would detect 75% and 74%, respectively, of MDS cases with optical hypogranulation. NEUT-X and NEUT-Y parameters can be used to detect neutrophil dysplasia arising from MDS and chronic myelomonocytic leukemia.

[Diagnosis and quantification of iron overload in the liver using MRI]. / Diagnóstico y cuantificación de la sobrecarga férrica en el hígado mediante resonancia magnética.

Hereditary hemochromatosis is the most common cause of iron overload. The diagnosis of hereditary hemochromatosis has improved since Feder et al. isolated the HFE gene in 1996 and discovered the mutations related with this disease. Nevertheless, in many cases genetic tests for hereditary hemochromatosis are negative. These cases require diagnostic confirmation by quantifying the concentration of iron in the liver (LIC); this has traditionally been accomplished by liver biopsy. Many studies have shown that it is possible to quantify LIC using MRI. However, a consensus has yet to be reached about the most appropriate technique or whether it is possible to reproduce the same methods of calculation on different MRI units. This article reviews the current state of these questions and points to possible lines to standardize this noninvasive method of quantifying LIC in the future.

Diagnóstico y cuantificación de la sobrecarga férrica en el hígado mediante resonancia magnética / Diagnosis and quantification of iron overload in the liver using MRI

La hemocromatosis hereditaria es la modalidad más frecuente de sobrecarga férrica. El diagnóstico de la misma ha mejorado desde que en 1996 Feder et al aislaron el gen HFE descubriendo las mutaciones relacionadas con la enfermedad. Sin embargo, son muchos los pacientes con estudios genéticos negativos, y que por tanto requieren una confirmación diagnóstica mediante la cuantificación de la concentración de hierro en hígado (CHH) que tradicionalmente se ha realizado mediante biopsia hepática. Muchos estudios han demostrado la posibilidad de cuantificar la CHH mediante resonancia magnética. Sin embargo, todavía no existe un consenso en cuanto a la técnica más idónea ni en cuanto a la posibilidad o no de reproducir el mismo método de cálculo en diferentes máquinas. Este artículo revisa la realidad de estas cuestiones y señala posibles líneas de futuro para estandarizar este método no invasivo de cuantificación de la CHH

Hereditary hemochromatosis is the most common cause of iron overload. The diagnosis of hereditary hemochromatosis has improved since Feder et al. isolated the HFE gene in 1996 and discovered the mutations related with this disease. Nevertheless, in many cases genetic tests for hereditary hemochromatosis are negative. These cases require diagnostic confirmation by quantifying the concentration of iron in the liver (LIC); this has traditionally been accomplished by liver biopsy. Many studies have shown that it is possible to quantify LIC using MRI. However, a consensus has yet to be reached about the most appropriate technique or whether it is possible to reproduce the same methods of calculation on different MRI units. This article reviews the current state of these questions and points to possible lines to standardize this noninvasive method of quantifying LIC in the future

Tratamiento acortado de infecciones osteoarticulares en pediatría / Short treatment of osteoarticlar infections in children

Introducción: El tiempo de tratamiento de las infecciones osteoarticulares en pediatría, es controvertido. Se han reportado trabajos que demostraron que en pacientes estrictamente seleccionados y con monitoreo de proteina C reactiva cuantitativa (PCR) la duración podía ser menor a la previamente establecida. Con el objetivo de evaluar la seguridad y eficacia del tratamiento antibiótico acortado en niños monitoreados con PCR cuantitativa se realizó este estudio. Material y métodos: durante mayo 2001 hasta noviembre de 2003 se realizó un estudio prospectivo, descriptivo, no comparativo de 35 pacientes pediátricos con diagnostico de infecciones osteoarticulares agudas. El curso de la enfermedad fue monitoreado con eritrosedimentación y proteína C reactiva para decidir la duración total del tratamiento. Resultados: Se incluyeron 35 pacientes. La edad fue de una mediana de 20 meses (rango: 7 menos 130 m). Veinte pacientes presentaron osteoartritis (57 por ciento), 13 artritis (37 por ciento) y 2 osteomielitis (6 por ciento). La localización más frecuente fue cadera: 17 pacientes (49 por ciento), seguido por la rodilla en 14 pacientes (40 por ciento). El dolor y la inmovilización estuvieron presentes en todos los pacientes; se constató fiebre en 27 pacientes (77 por ciento). Se realizó drenaje quirúrgico en los 17 pacientes con artritis de cadera. El valor de la PCR al ingreso fue: de 15 mg/1 (rango: 5 menos 106). La mediana de normalización de la PCR fue de 5 días (r: 4 menos 7 d).La mediana de eritrosedimentación fue de 47mm/h,(r:25 menos 120) y la mediana de normalización fue de 14 días (r:10 menos 21d). Se obtuvo documentación microbiológica en 8p (23 por ciento). Streptococcus pyogenes se aisló en 3 pacientes. Staphylococcus aureus en 3 pacientes, S. pneumoniae y H. influenzae no b 1 paciente cada uno. La duración del tratamiento endovenoso fue:(mediana) 5 días (r: 2 menos 10d). La duración del tratamiento oral fue: (mediana) de 14 días (r: 9 menos 19d). La du...

Lemierre's syndrome: case report in a pediatric patient.

Lemierre's syndrome was described in 1936 as a severe oropharyngeal infection followed by septic thrombophlebitis of the internal jugular vein and disseminated metastatic infections. Cases occur typically in previously healthy young adults and children. Fusobacterium necrophorum is the main anaerobic bacterium implicated. We present a septic 2-month-old infant with mastoiditis, multiple sites of osteoarthritis and multiple subcutaneous abscesses. No underlying anatomic or immunologic abnormalities were identified. Fusobacterium necrophorum was recovered from blood and bone samples obtained intraoperatively. Treatment included anaerobic coverage and drainage of septic foci. The patient was discharged home on 35th hospital day with oral amoxicillin-clavulanic acid and he recovered without sequelae. This was the first case of Lemierre's syndrome in our hospital. We want to highlight the absence of jugular vein thrombophlebitis, the presence of mastoiditis as previous infection and the surprising appearance of this infection in an edentulous 2-month-old infant.

Regional reference values for some quantities measured with the ADVIA Centaur analyser. A model of co-operation between the in vitro diagnostic industry and clinical laboratories.

This work is a model of co-operation between the in vitro diagnostic industry and clinical laboratories for the production of reference values. Thirteen clinical laboratories having an ADVIA Centaur analyser and representing the majority of the geographical regions of Spain have shared the search for reference individuals and the production of reference values for thyrotropin, free thyroxine, free triiodothyronine, cobalamine and folate concentrations in serum. All the logistic work has been done in co-operation with the Spanish supplier of the ADVIA Centaur analyser. The reference limits produced in the virtual laboratory are derived from the blend of reference values obtained by each laboratory. The multicentre reference limits were estimated according to the recommendations of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC).