Tiroiditis de Riedel, una entidad fácilmente confundible con carcinoma anaplásico tiroideo / Riedel's thyroiditis, an entity easily confused with anaplastic thyroid carcinoma

INTRODUCTION: Riedel´s thyroiditis is a thyroid inflammation with invasive fibrosis. CASE REPORT: Female 84 years old, studied by dysphagia to liquids and dysphonia, with cervical mass poorly demarcated and immobile. Computed Tomography (CT) (CT) showed tumor that diverted the trachea and esophagus compressed. Fine Needle Aspiration (FNA) obtained cells with atypia. Thyroidectomy was performed, appreciating a stony tumor which included the right recurrent laryngeal nerve. Given the high suspicion of thyroid malignancy tracheostomy it was performed. The pathology report as fibrosing Riedel thyroiditis. DISCUSSION: This is the less common type of chronic thyroiditis. Etiology is unknown. The normal thyroid parenchyma is replaced by fibrous connective tissue. Clinically usually a hard mass, fast growing, why is confused with thyroid carcinoma and Hashimoto's thyroiditis. It´ss more common in women and is usually bilateral. The CT or MRI (Magnetic Resonance Imaging) help assess the extent. Puncturing the mass could give us the diagnosis but is often difficult. Treatment to relieve symptoms or rule out malignancy is surgery. The prognosis is usually good. CONCLUSIONS: Riedel´s thyroiditis is an entity with histopathologic diagnosis essential

Dolor musculoesquelético: una forma de inicio frecuente de leucemia linfoblástica aguda / Musculoskeletal pain: A common initial sign of acute lymphoblastic leukaemia

El dolor musculoesquelético es una consulta común en la infancia, y su etiología generalmente es banal. Sin embargo, hay que tener presente que los procesos neoplásicos pueden causar este tipo de síntoma. De hecho, 4 de las 9 leucemias diagnosticadas en nuestro hospital entre noviembre de 2008 y julio de 2009 se iniciaron con dolor musculoesquelético. Por este motivo, presentamos los casos de leucemia y revisamos los distintos parámetros a tener en cuenta para sospechar y realizar una detección precoz de estos procesos, ya que esto supone una mejoría importante del pronóstico (AU)

Musculoskeletal pain is a common complaint in paediatrics usually due to benign diseases. Nevertheless neoplasms, particularly acute leukaemia, must be considered in the differential diagnosis. During the last 9 months 4 of the 9 patients diagnosed with acute leukaemia at our hospital presented with a limp, arthralgias, lumbar or bony pain. We describe these cases and review the clinical and analytical parameters that help to differentiate benign pain from that associated with a malignant disease. The early detection of these processes may represent a significant improvement in their prognosis (AU)

Evolución a largo plazo de la nefritis lúpica de inicio en la edad pediátrica / Long-term outcome of paediatric lupus nephritis

Introducción: El riñón es uno de los órganos más frecuentemente afectados por el lupus eritematoso sistémico. Recientemente se ha indicado que el pronóstico renal en esta enfermedad ha mejorado con un diagnóstico y tratamiento específico más precoz e intenso. A menudo, los estudios en edad pediátrica carecen de un tiempo de seguimiento suficiente para conocer la evolución a largo plazo. Pacientes y métodos: Estudio descriptivo retrospectivo desde 1986 hasta 2009 basado en la revisión de historias clínicas de pacientes diagnosticados de nefritis lúpica en la sección de Nefrología Infantil de un hospital terciario. Se incluye a pacientes menores de 18 años de edad al diagnóstico y se excluye a pacientes con seguimiento menor de 3 meses o datos incompletos. Recogida y descripción evolutiva de variables clínicas, analíticas de función renal y actividad de la enfermedad así como anatomía patológica y tratamientos empleados. Análisis de variables de riesgo para existencia de afectación renal en el último control. Resultados: Recuperamos datos de 16 pacientes (3 varones y 13 mujeres) con una edad al inicio del lupus eritematoso sistémico de 10,6±2,9 años y al diagnóstico de nefritis lúpica de 12,6±3,5 años. Se obtuvo biopsia renal en 14 de ellos, en 11 de estos (78,6%) 3 meses o menos tras el diagnóstico. En 9 casos (64,3%) se encontró una clase IV de la OMS (3 casos clase III y 2 casos clase II). En el último control (10,7±6,7 años de evolución), 7/16 (43,8%) presentaban enfermedad renal crónica: 5 casos con proteinuria (uno en rango nefrótico), un caso en estadio 2 y un caso en hemodiálisis tras fracaso de injerto renal. Entre los seguidos más de 10 años, 4/9 (44,4%) tenían alteraciones: 3 pacientes presentaban proteinuria más el paciente en hemodiálisis. La mayoría (15/16) recibieron tratamiento con bolos de ciclofosfamida intravenosa en número variable tras el diagnóstico. Solamente se encontró asociación de la afectación renal con una mayor proteinuria a los 3 meses, al año y a los 3 años de evolución. Conclusiones: Consideramos la evolución de nuestros pacientes a largo plazo como muy satisfactoria. Aunque un 44,4% de aquellos con más de 10 años de seguimiento presentaba alguna alteración renal, solamente uno (11,1%) ha evolucionado a insuficiencia renal terminal. Estos pacientes presentaban una mayor proteinuria desde los primeros controles (AU)

Introduction: Kidney is frequently affected in patients with systemic lupus erythematosus (SLE). It has been recently suggested that the renal outcome in this disease has improved with an earlier diagnosis and intensive specific treatment. Quite often, articles with paediatric patients lack a prolonged follow-up which could help to predict long term outcome. Methods: This is a retrospective descriptive study based on the review of clinical records from patients with a diagnosis of lupus nephritis in a Paediatric Nephrology unit of a tertiary care centre, between 1987 and 2009. Patients were included with an age up to 18 at diagnosis. They were excluded if follow-up period was shorter than 3 months or if data lacked about it. It includes descriptive evolution of clinical parameters, kidney function, lupus activity as well as pathology and treatment. Several variables were tested for association with chronic kidney disease (CKD) in the last checkpoint. Results: Data were obtained from 16 patients, 3 men and 13 women. Age at the beginning of SLE was 10.6±2.9 years and 12.6±3.5 years at debut of lupus nephritis. Biopsy was obtained in 14 of them, in 11 cases (78.6 %), 3 or less months following diagnosis. In 9 cases (64.3 per cent), biopsy showed WHO class IV, 3 cases, class III and 2 cases, class II. In the last control (10.7±6.7 years of follow-up), 7/16 (43.8 %) had developed CKD: 5 cases with proteinuria (one in nephrotic range), one in stage 2 and one patient in haemodialysis after renal graft loss. Among those with a follow-up longer than 10 years, 4/9 (44.4 %) of them showed some sign of renal disease: 3/9 with proteinuria, and the one needing haemodialysis. Most of the patients (15/16) received treatment with intravenous cyclophosphamide boluses in a variable number after diagnosis. Only a more intense proteinuria at 3 months, 1 year and 3 years of evolution was related to CKD in the last visit. Conclusions: We consider the long term evolution of our patients to have been very satisfactory. Although 44.4 % of them developed renal anomalies after 10 or more years, only one (11.1%) reached an end-stage renal disease. These patients presented a higher grade of proteinuria from the first visits (AU)

[Musculoskeletal pain: a common initial sign of acute lymphoblastic leukaemia]. / Dolor musculoesquelético: una forma de inicio frecuente de leucemia linfoblástica aguda.

Musculoskeletal pain is a common complaint in paediatrics usually due to benign diseases. Nevertheless neoplasms, particularly acute leukaemia, must be considered in the differential diagnosis. During the last 9 months 4 of the 9 patients diagnosed with acute leukaemia at our hospital presented with a limp, arthralgias, lumbar or bony pain. We describe these cases and review the clinical and analytical parameters that help to differentiate benign pain from that associated with a malignant disease. The early detection of these processes may represent a significant improvement in their prognosis.

[Long-term outcome of paediatric lupus nephritis]. / Evolución a largo plazo de la nefritis lúpica de inicio en la edad pediátrica.

INTRODUCTION: Kidney is frequently affected in patients with systemic lupus erythematosus (SLE). It has been recently suggested that the renal outcome in this disease has improved with an earlier diagnosis and intensive specific treatment. Quite often, articles with paediatric patients lack a prolonged follow-up which could help to predict long term outcome. METHODS: This is a retrospective descriptive study based on the review of clinical records from patients with a diagnosis of lupus nephritis in a Paediatric Nephrology unit of a tertiary care centre, between 1987 and 2009. Patients were included with an age up to 18 at diagnosis. They were excluded if follow-up period was shorter than 3 months or if data lacked about it. It includes descriptive evolution of clinical parameters, kidney function, lupus activity as well as pathology and treatment. Several variables were tested for association with chronic kidney disease (CKD) in the last checkpoint. RESULTS: Data were obtained from 16 patients, 3 men and 13 women. Age at the beginning of SLE was 10.6 + or - 2.9 years and 12.6 + or - 3.5 years at debut of lupus nephritis. Biopsy was obtained in 14 of them, in 11 cases (78.6 %), 3 or less months following diagnosis. In 9 cases (64.3 per cent), biopsy showed WHO class IV, 3 cases, class III and 2 cases, class II. In the last control (10.7 + or - 6.7 years of follow-up), 7/16 (43.8 %) had developed CKD: 5 cases with proteinuria (one in nephrotic range), one in stage 2 and one patient in haemodialysis after renal graft loss. Among those with a follow-up longer than 10 years, 4/9 (44.4 %) of them showed some sign of renal disease: 3/9 with proteinuria, and the one needing haemodialysis. Most of the patients (15/16) received treatment with intravenous cyclophosphamide boluses in a variable number after diagnosis. Only a more intense proteinuria at 3 months, 1 year and 3 years of evolution was related to CKD in the last visit. CONCLUSIONS: We consider the long term evolution of our patients to have been very satisfactory. Although 44.4 % of them developed renal anomalies after 10 or more years, only one (11.1%) reached an end-stage renal disease. These patients presented a higher grade of proteinuria from the first visits.

Lesiones equimóticas en miembro superior / Ecchymotic injuries in u pper extremity

El maltrato infantil es un problema que en muchos casos no llega a ser identificado. El papel del pediatra en la detección de una posible situación de abuso a través de la anamnesis, la exploración física, las pruebas complementarias y los datos sociales es fundamental. El maltrato físico debe formar parte del diagnóstico diferencial de cualquier lesión hallada en un niño. Las contusiones y los hematomas constituyen las manifestaciones más comunes, y existen hallazgos en la exploración que pueden orientar sobre su origen. Toda sospecha de maltrato debe comunicarse a las autoridades competentes. Se presenta un caso de maltrato físico detectado en el servicio de urgencias de un hospital terciario a partir de datos incongruentes en la anamnesis y lesiones sospechosas en la exploración(AU)

Child abuse is an important health problem which is often misdiagnosed. Paediatricians play a vital role in the detection of child maltreatment where, interviewing of parents and child, physical examination, diagnostic testing and investigation of any possible social risk factors is crucial when there is a suspicion. Maltreatment should be considered as part of the differential diagnosis when we face injuries in children. Haematomas and bruises are the most common clinical manifestation of physical abuse, and there are certain patterns which may be suggestive or even diagnostic of its probable origin. Suspected cases of child abuse should be always reported to the appropriate public agency. We present the case of a 12 year old boy, victim of physical abuse, diagnosed in the emergency department of a tertiary hospital based on a suspicion after vague explanation, inconsistent with the injury’s characteristics(AU)

El tortícolis como manifestación inicial de un tumor de fosa posterior: el caso de una niña con astrocitoma pilocítico / Torticolis as an initial sign of posterior fossa tumor: case of child with pilocytic astrocytoma

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Brote intrafamiliar de gastroenteritis por Shigella flexneri en Madrid / Intrafamilial outbreak of Shigella flexneri gastroenteritis in Madrid

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¿Subdural o epidural? Dos posibles nuevos casos de punción subdural / Subdural or epidural? Two possible new cases of subdural perforation

Presentamos dos casos clínicos de posible bloqueo subdural accidental tras la identificación del espacio epidural para la administración de analgesia en gestante a término para trabajo de parto. En los casos que describimos, la localización del espacio epidural se realizó sin incidencias. Las pruebas de identificación fueron favorables. Fue en ambos casos que se apreció la salida de líquido cefalorraquídeo cuando se introdujo el catéter. Describimos la posibilidad de haber localizado "un espacio vacío" con la aguja de Tuhoy, que bien pudo ser el espacio subdural, pero fue el catéter el que perforó la membrana subaracnoidea. Planteamos la discusión en torno a cómo hubiéramos podido saber la posición de la aguja y así haber evitado la perforación subaracnoidea con el catéter. ¿Es lógico pensar, hoy día, que deben imponerse técnicas de localización del espacio epidural más sofisticadas? (AU)

Effects of 17 beta-N,N-diethylcarbamoyl-4-methyl-4-aza-5 alpha-androstan-3-one on steroidogenesis in gonads of rat fetuses.

1. The effect of 5 alpha-reductase inhibitor 17 beta-N,N-diethylcarbamoyl-4-methyl-4-aza-5 alpha-androstan-3-one (4-MA) on the fetal rat steroidogenesis was examined. 18- and 20-day-old fetal ovaries were incubated in the presence of dcAMP (1 mM) and spironolactone (10 mM) and progesterone production was assessed with and without 4-MA (0.01-50 microM). 2. High concentrations of 4-MA significantly decreased the production of progesterone. 3. Similar inhibition of the testosterone synthesis was observed in 16-day-old fetal testes explanted either in the control medium (M199) or in the presence of LH (100 ng/ml) when treated with 4-MA. The effect was rapidly reversible in both gonads.

Responsiveness of rat ovaries to dcAMP in the perinatal period: evidence for an inhibitory influence in vivo.

The progesterone production by rat ovaries from 18-day-old fetuses to 6-day-old neonates was measured in vitro in the presence of dibutyryl cAMP (dcAMP, 1 mM). A pronounced decline was observed at the end of fetal life. The 5 alpha-reductase activity did not seem sufficient to explain this decrease. Preculture of the ovaries for 48 h in the basal medium enhanced responsiveness to the nucleotide. Addition of spironolactone, an inhibitor of 17 alpha-hydroxylase to dcAMP did not modify this evolution. 3 beta-hydroxysteroid dehydrogenase activity, detectable in fetal ovaries in the absence of dcAMP was also increased after preculture. In the presence of spironolactone and trilostane, the pregnenolone production showed the same evolution as progesterone and was also enhanced after culture. These results suggest the existence of inhibitory factor(s) present in vivo at the end of fetal life.

Development of fetal rat ovaries responsiveness to LH during organ culture.

The responsiveness of fetal neonatal rat ovaries to LH was investigated in vitro using three complementary approaches. First, steroid production was assessed after culture. In control media, detectable levels of estrogens (estradiol and estrone) and progesterone were only observed from day 6 postpartum and during the second week of life respectively. In the presence of LH (100 ng/ml) ovaries produced both estrogens and progesterone from day 4 postpartum and the response to LH was enhanced with IBMX supplementation in the medium. Second, 3 beta-HSD activity was measured with either LH or (Bu)2 cAMP (1mM). Irrespective to the time-period studies (Bu)2 cAMP stimulated this enzyme whereas the stimulation with LH occurred only from day 5 postpartum Third, specific hCG binding was assessed and we found that it occurred only on days 7 and 10. However, when fetal ovaries were pretreated for 48 h with (Bu)2 cAMP, a specific hCG binding could be detected and progesterone production was enhanced in response to LH. An effect of the nucleotide via a stimulation of the neuraminidase activity did not seem to be involved. Lastly treatment of 18-day-old fetal ovaries with cholera toxin (10nM) or forskolin (1 microM) was found to stimulate progesterone production and VIP (0.1 to 1 microM) stimulated both the 3-HSD activity and the estradiol production. These data suggest that the absence of steroidogenic response to LH before day 4 postpartum could be explained by the absence of receptors, though the LH transmembrane signal-transduction system is functional in fetal ovaries.(ABSTRACT TRUNCATED AT 250 WORDS)

Cholesterol side-chain cleavage activity in rat fetal gonads: a limiting step for ovarian steroidogenesis.

The aim of this study was to examine the first step in steroidogenesis in male and female gonads of fetal rats. Pregnenolone production was measured by radioimmunoassay in organ culture, conversion of [3H]cholesterol to [3H]pregnenolone was evaluated in isolated mitochondria and cytochrome P-450scc was revealed by immunoblotting and immunocytochemical techniques. Our results clearly showed that in fetal testes (1) pregnenolone was produced in media where testes were cultured in the presence of trilostane and spironolactone, indicating an important metabolism of pregnenolone, (2) [3H]cholesterol was converted into [3H]pregnenolone in mitochondria, (3) cytochrome P-450scc was revealed in immunoblots with a molecular weight of 50,000, (4) cytochrome P-450scc was localized in Leydig cells from 15.5-day-old fetal testes onwards. With respect to fetal ovaries, we were unable to detect any scc activity, except after treatment with dibutyryl cyclic AMP. A lag period of 18 h was necessary to induce pregnenolone synthesis. However, the immunoperoxidase staining did not localize ovarian positive cells. Cytochrome P-450scc could be revealed in postnatal ovaries by immunoblotting and some interstitial positive cells were observed with immunostaining; the reaction was enhanced in luteinizing hormone-pretreated ovaries. These data indicate that (a) the cholesterol scc activity is present in fetal testes, (b) the conversion of cholesterol to pregnenolone is a limiting step for steroidogenesis in fetal ovaries. The inductive effect of the nucleotide on the enzyme suggests that the absence of gonadotrophic receptors in fetal female gonads could explain the lack of steroidogenesis before birth.(ABSTRACT TRUNCATED AT 250 WORDS)

Attempts for identification of a chorionic gonadotrophin-like bioactivity in the rat placenta which stimulates the testosterone secretion of the fetal testis in vitro.

The bioactivity of rat placental extracts was evaluated using a fetal rat testis testosterone (FRTT) bioassay. It is based on the measurement of the increase in testosterone secreted in vitro by testes from 18.5-day-old fetuses in response to the addition of placental extracts. Placentas obtained on days 11.5, 12.5, 13.5, 14.5, 15.5, 17.5 and 19.5 and homogenized with a Potter homogenizer (1 placenta per ml incubation medium), increased the secretion of testosterone by 460, 690, 500, 300, 220, 200 and 170%, respectively. These extracts showed a high proteolytic activity capable of suppressing the bioactivity of 0.8 ng/ml LH added prior to the extraction procedure. However, the bioactivity of the placental extracts did not increase after inhibiting placental proteases by the addition of benzamidine. Heat treatment did not decrease the bioactivity of placental extracts obtained without inhibition of proteases. Ultrafiltration of the placental extracts obtained with inhibition of the proteases showed that most of the bioactivity was dialyzable. The levels of bioactive material with molecular weights greater than 10,000 were very low (0.06 ng LH equivalent/placenta on day 12.5 and less than 0.02 ng LH equivalent/placenta on day 14.5). These results suggest that rat placental bioactivity as measured with the FRTT bioassay is due, for the most part, to steroid precursors of testosterone and, for a very small part, to an LH/chorionic gonadotrophin (CG)-like molecule. Furthermore, after day 14.5, the placental LH/CG-like bioactivity, if it exists, is synthesized in too low levels to be able to control the testicular activity in the rat fetus.

Absence of development of late steroidogenic lesions in rat testis during the end of fetal life.

In the rat during the last 4 days of fetal life, the production of testosterone by the testis does not increase, whereas the plasma level of biological LH-like activity rises sharply. The present study was designed to test whether this phenomenon is attributed to the development of defects in the activity of the enzyme 17 alpha-hydroxylase and C17,20-lyase (called late steroidogenic lesions) during the end of fetal life. As this occurrence would lead to an age-related decrease in the ratio testosterone/progesterone, the testicular productions of these two steroids were evaluated on 18.5, 20.5, and 21.5 days postconception. Three different measurements were performed: (a) the in vivo testicular contents; (b) the in vitro secretions during a 120-min incubation in the presence or in the absence of 100 ng/ml ovine LH; (c) the testicular contents after these incubations. These measurements never revealed a decrease in the ratio testosterone/progesterone as a function of fetal age. It would appear that late steroidogenic lesions do not develop during the end of fetal life in the rat.

Activity of 3 beta-hydroxysteroid dehydrogenase/isomerase in the fetal rat ovary.

3 beta-hydroxysteroid dehydrogenase/isomerase (3 beta-HSD) was examined in rat fetal ovaries. The enzymatic activity was determined by measuring the conversion of radiolabeled pregnenolone to progesterone. 3 beta-HSD, present in 14-day old fetal ovaries showed a regular increase in the course of development. Pretreatment with dcAMP for 48 h enhanced the apparent maximal velocity of the enzyme by about 5-fold without increase in the apparent Km. The increase in 3 beta-HSD activity was not due to the synthesis of pregnenolone observed after dcAMP pretreatment, but it was dependent on protein synthesis. The present results indicate that (1) 3 beta-HSD activity is present in fetal female gonads and the absence of steroid biosynthesis cannot be related to a defect in this enzyme (2) 3 beta-HSD activity is enhanced in the presence of dcAMP. The absence of gonadotropic receptors in the rat ovary before birth could explain the low level of the enzymatic activity measured in fetal ovaries.

Production of C21 steroids in rat fetal ovaries.

Female gonads of fetal and neonatal rats were cultured for 24 h in medium 199 supplemented with dibutyryl cyclic AMP (dcAMP), cycloheximide, spironolactone (an inhibitor of 17 alpha-hydroxylase) or hydroxylated cholesterol derivatives. Radioimmunoassays of pregnenolone (P5) and progesterone (P4) were performed in the media. In control medium, progesterone production developed during the second week of life whereas ovaries treated with dcAMP (1 mM) produced progesterone as early as day 14.5 of gestation. The effect of the nucleotide was reversible and the lag period of responsiveness was 12 h. Cycloheximide (1 microgram/ml) added with dcAMP completely inhibited the production of progesterone. Addition of spironolactone to the basal medium was without effect but significantly increased P5 and P4 productions in the presence of dcAMP. The inhibitory effects of spironolactone and trilostane on steroidogenesis were tested in fetal testis. Lastly, the dcAMP effect could not be mimicked with hydroxylated cholesterol derivatives (20 microM). However, an additive effect of 22-hydroxycholesterol was observed in the presence of the nucleotide. These results indicate that the in vitro production of P5 and P4 by fetal ovaries in the presence of dcAMP suggests that dcAMP induces enzymes involved in C21 steroid synthesis. Levels of action of the nucleotide are discussed.

Effects of busulfan on ovarian folliculogenesis, steroidogenesis and anti-müllerian activity of rat neonates.

Pregnant rats were injected with busulfan on day 12 or 18 of gestation and the ovaries of 5- and 10-day-old neonates were compared with control ones in terms of 1) folliculogenesis, 2) production of estradiol-17 beta and estrone in vitro, 3) aromatase and 3 beta-hydroxysteroid dehydrogenase/isomerase (3 beta-HSD) activities, and 4) anti-müllerian hormone. Injection of busulfan on day 12 led to a reduction in the number of germ cells and follicles, delayed the maturation of antral follicles and lowered estrogen production and aromatase and 3 beta-HSD activities. Anti-müllerian activity, present in ovaries from 10-day-old controls, was also depressed in busulfan-treated rats. No obvious effects were observed when busulfan was injected on day 18. Estrogen biosynthesis could be stimulated by gonadotropins at day 10 post-partum, indicating the presence of functional receptors to LH and/or FSH. These relationships are interpreted as indicating that ovarian cells retain their capacity to respond to hormonal challenge despite the morphological impairment induced by busulfan. Other factors which possibly interfere with ovarian activity in busulfan-treated rats are discussed.