Hematuria recidivante como síntoma guía del síndrome del desfiladero aortomesentérico / Recurrent hematuria as a guiding symptom of aortomesenteric gorge síndrome

INTRODUCCIÓN: Este síndrome define la compresión de la vena renal izquierda entre la aorta y la arteria mesentérica superior, provocando una presión elevada de dicha vena renal con posible desarrollo de venas colaterales. Clínicamente, aparece hematuria intermitente, proteinuria con o sin dolor abdominal o en hemiabdomen izquierdo. CASOS CLÍNICOS: Presentamos 15 niños de entre 7 y 13 años, la mayoría con examen físico normal y clínica de dolor abdominal o del flanco izquierdo con presión arterial normal (46,6%); hallazgos urinarios: hematuria no glomerular (20%) y proteinuria de rango no nefrótico (20%), con microalbúmina inferior a 300 mg en orina de 24 horas. Un paciente (6,7%) presentó proteinuria asociada a glucosuria e hipertensión. Las mediciones de ultrasonografía Doppler del diámetro anteroposterior (AP) y las velocidades máximas de la vena renal izquierda son diagnósticas: dilatación y enlentecimiento del flujo proximal a la pinza aortomesentérica, disminución del calibre con flujo acelerado a nivel distal y ángulo de la pinza menor de 30º. En dos casos precisó angio-TAC, mostrando la vena renal izquierda comprimida entre la aorta y la arteria mesentérica superior. La angiografía por RM ofrece una excelente definición anatómica. El tratamiento es conservador. Puede ser necesario tratamiento con inhibidores de la enzima convertidora de la angiotensina, intervenciones quirúrgicas o procedimientos extravasculares. CONCLUSIÓN: Sospechar SHVR ante la presencia de hematuria, proteinuria, dolor abdominal recurrente, diagnóstico que requiere alto índice de sospecha. Precisa ecografía. En casos seleccionados, angio-TAC, RM o flebografía, siendo esta última el gold standard para el diagnóstico, que no suele precisarse

INTRODUCTION: This syndrome defines the compression of the left renal vein between the aorta and the superior mesenteric artery, causing an elevated pressure of said renal vein with possible development of collateral veins. Clinically, intermittent hematuria, proteinuria appears with or without abdominal pain or in the left abdomen. CLINICAL CASES: We present 15 children between 7 and 13 years old. Most with normal physical and clinical examination of abdominal or left flank pain with normal blood pressure (46.6%); urinary findings: non-glomerular hematuria (20%) and non-nephrotic range proteinuria (20%), with microalbumin less than 300 mg in 24-hour urine. One patient (6.7%) presented proteinuria associated with glucosuria and hypertension. Doppler ultrasound measurements of the anteroposterior diameter (AP) and the maximum velocities of the left renal vein are diagnostic: dilatation and slowing of the flow proximal to the aortomesenteric clamp, decrease in caliber with accelerated flow at the distal level and angle of the clamp less than 30º. In two cases, angio-TAC was required, showing the compressed left renal vein between the aorta and the superior mesenteric artery. MR angiography offers excellent anatomical definition. The treatment is conservative. Treatment with angiotensin-converting enzyme inhibitors, surgery, or extravascular procedures may be necessary. CONCLUSION: Suspect RVS, in the presence of hematuria, proteinuria, recurrent abdominal pain, a diagnosis that requires a high index of suspicion. Requires ultrasound. In selected cases, CT angiography, MRI or phlebography, the latter being the gold standard for diagnosis, which is not usually required

Presentación de un síndrome hiponatrémico-hipertensivo como síndrome de poliuria-polidipsia / Hyponatremic-hypertensive syndrome presenting as a polyuria-polydipsia syndrome

El síndrome hiponatrémico-hipertensivo es infrecuente en niños. Se caracteriza por la presencia de hipertensión de origen renovascular y trastornos hidroelectrolíticos, asociado a hiponatremia, que conduce a una depleción de sodio y agua, lo que se define como natriuresis por presión. La mayoría de los casos publicados en los pacientes pediátricos presentan síntomas neurológicos agudos acompañados de vómitos, retraso del crecimiento y pérdida de peso. Sólo D’Angelo et al. describieron 2 casos similares con SHH y síndrome poliuria-polidipsia, pero ambos asociados a un tumor de Wilms. Presentamos el caso de un niño de 2 años de edad con síndrome hiponatrémico-hipertensivo, encontrado durante un estudio de poliuria-polidipsia. Aunque los valores de presión arterial eran extremadamente altos, el paciente no presentaba clínica neurológica. Los niveles de actividad de renina plasmática y aldosterona estaban elevados. La arteriografía reveló la existencia de una estenosis de una arteria renal accesoria del riñón derecho. Tras un tratamiento antihipertensivo intensivo, el paciente pudo someterse a cirugía, alcanzando posteriormente valores normales de presión arterial y desapareciendo la poliuria y la polidipsia. Este caso supone una presentación del síndrome hiponatrémico-hipertensivo no descrita hasta ahora, y confirma que la hipertensión renovascular puede manifestarse sólo como un síndrome de poliuria-polidipsia a pesar de presentar valores extremadamente elevados de presión arterial (AU)

Although reported in adults, hyponatremic-hypertensive syndrome is an infrequent disorder in children. It is characterized by hypertension of renovascular origin and electrolyte disorder mainly profound hyponatremia leading to sodium and water depletion (pressure natriuresis). Most of cases published in pediatric patients present acute neurological symptoms accompanied with others than vomiting, failure to thrive, polyuria-polydipsia and weight loss. Only D’Angelo et al. described two similar cases with hyponatremic-hypertensive syndrome and polyuria-polydipsia syndrome in two children associated both with Wilms tumor. We present the case of a two years-old infant with a hyponatremic-hypertensive syndrome found within the study of polyuria and polidypsia. Although blood pressure values extremely high, the patient didn´t present neurological features. The peripheral rennin activity and aldosterone levels were both elevated. The angiographic studies were performed and o stenosis of an accessory renal artery on right kidney. After intensive antihypertensive treatment the patient underwent surgical correction and became normotensive with only low dose enalapril, serum electrolyte values, thirst and urine volume became normal. Our case confirms that renovascular hypertension, can onset only as a poliuria-polydipsia syndrome despite extremely elevated values of blood pressure. We finally want must emphasize the role of arterial pressure control in children with hypostenuric conditions (AU)

Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration.

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron accumulation in the brain, because of mutations in the PANK2 gene. Phenotypic and genotypic characteristics of 11 patients from five Mexican families with PKAN disease are reported. Sequencing of PANK2 confirmed the diagnosis. The 11 patients had dysarthria associated with dystonia and Parkinsonism in six. Brain magnetic resonance imaging (MRI) showed the 'eye-of-the-tiger' sign in all patients. Three different mutations were identified, a novel one (p.A469P) and two (p.G219V and p.N404I) very rare. Homozygous sibs for the p.G219V mutation had a severe disease progression with early death. Dystonia predominated in the p.A469P/p.N404I compound heterozygous patients. Homozygous for p.N404I showed Parkinsonism, tics and personality and speech disorders. Early and late disease onset and variable expression was present in carriers of the different identified mutations. The 'eye-of-the-tiger' is an excellent neuroimaging hallmark to predict PANK2 mutations. We detected a 'cluster' of patients harboring the p.N404I mutation, strongly suggesting a founder effect for this mutation. This is the first familial clinical-genetic PKAN disease study accomplished in Mexico.

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

Pantothenate kinase-associated neurodegeneration (PKAN) disease is an autosomal recessive neurodegenerative disorder with iron storage in the brain due to PANK2 gene mutations. Brain magnetic resonance imaging (MRI) shows the typical "eye-of-the-tiger" sign. The aim of the present study was to describe clinical, MRI and molecular findings in a 26-year-old male with atypical PKAN disease in whom, brain MRI scans showed bilateral pallidal T2-hypointensity with a small central region of T2-hyperintensity, resembling the "eye-of-the-tiger" typical image. Genetic analysis identified two mutations in PANK2: c.1561G>A and c.1663G>A, being the latter never described before. Due to limited phenotype-genotype correlation among patients with movement disorders, if "eye-of-the-tiger" brain MRI is present, PANK2 mutations investigation are needed to confirm PKAN disease.

Thermally activated cation ordering in ZnGa2Se4 single crystals studied by Raman scattering, optical absorption, and ab initio calculations.

Order-disorder phase transitions induced by thermal annealing have been studied in the ordered-vacancy compound ZnGa2Se4 by means of Raman scattering and optical absorption measurements. The partially disordered as-grown sample with tetragonal defect stannite (DS) structure and I4¯2m space group has been subjected to controlled heating and cooling cycles. In situ Raman scattering measurements carried out during the whole annealing cycle show that annealing the sample to 400 °C results in a cation ordering in the sample, leading to the crystallization of the ordered tetragonal defect chalcopyrite (DC) structure with I4¯ space group. On decreasing temperature the ordered cation scheme of the DC phase can be retained at ambient conditions. The symmetry of the Raman-active modes in both DS and DC phases is discussed and the similarities and differences between the Raman spectra of the two phases emphasized. The ordered structure of annealed samples is confirmed by optical absorption measurements and ab initio calculations, that show that the direct bandgap of DC-ZnGa2Se4 is larger than that of DS-ZnGa2Se4.

Homeostasis del magnesio. Etiopatogenia, clínica y tratamiento de la hipomagnesemia. A propósito de un caso / No disponible

El magnesio es el catión extracelular más abundante en el cuerpo humano y el segundo más abundante intracelular después del potasio. Es esencial para la transferencia, almacenamiento y utilización de la energía como regulador y catalizador de más de 300 sistemas enzimáticos. La hipomagnesemia puede producir una variedad de anormalidades metabólicas y consecuencias clínicas. Puede resultar del desequilibrio entre la absorción intestinal y la excreción renal. La principal consecuencia relacionada directamente con la hipomagnesemia son las arritmias cardiovasculares por hipopotasemia secundaria, y si no se reconoce y trata puede ser fatal. En este artículo revisamos las hipomagnesemias haciendo hincapié en los mecanismos moleculares responsables de la homeostasis del magnesio, diagnóstico diferencial y tratamiento, a propósito de la descripción de las manifestaciones clínicas y bioquímicas y el defecto genético en una familia afectada de síndrome de Gitelman (AU)

Magnesium is the fourth-most abundantion in the human body and the second-most abundant intracellular cation after potassium. Magnesium is pivotal in the transfer, storage, and utilization of energy as it regulates and catalyzes more than300 enzyme systems. Hypomagnesemia may thus result in avariety of metabolic abnormalities and clinical consequences. It results from an imbalance between gastrointestinal absorption and renal excretion of magnesium. The main consequence related directly to hypomagnesemia is cardiovascular arrhythmias secondary to hipokaliemia and if this is not recognized and treated it may be fatal. In this article we review the hypomagnesemic disorders in children with emphasis on the molecular mechanisms responsible for abnormalities in magnesium homeostasis, differential diagnosis and appropriate therapy, and we describe the clinical and biochemical manifestations as well as the genetic defect in a family with Gitelman syndrome (AU)

Hypertensive urgency and stunting. What is the diagnosis?

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Conocimiento y actitud del odontólogo frente al manejo del tabaquismo: estudio comparativo entre España, Italia y Venezuela / The participation of dentists in smoking cessation: comparative study of Venezuelan, Spanish and Italian dentists

Introducción: El Odontólogo es capaz de ejercer un gran impacto en el tabaquismo a través de su contacto con los pacientes y la detección precoz de lesiones bucales. El objetivo de este estudio fue determinar el conocimiento y la actitud de los odontólogos frente al tabaquismo en tres países distintos. Materiales y métodos: Se realizó una encuesta a 293 odontólogos, 93 de ellos localizados en Caracas (OV), 90con práctica odontológica en Madrid (OE) y 110 en Milán (OI).Resultados: 46 OE y 22 OI indicaron ser fumadores, mientras que tan solo 10 OV admitieron ser fumadores.80 (86,02%) OV, 66 (73,33%) OE y todos los OI refirieron registrar en la historia datos relacionados con tabaquismo en la primera consulta del paciente. La mayoría motiva a sus pacientes a dejar de fumar, sin embargo, 72,04% (67) OV, 55,55% (50) OE y 100% OI no recomiendan ninguna terapia de apoyo. Sólo 7odontólogos (2,38%) (2 OV y 5 OE) reconocieron el medicamento Bupropion pero ningún odontólogo lo ha indicado. Finalmente, 137 odontólogos han diagnosticado cáncer bucal, de los cuales 108 eran OI. Conclusiones: Los odontólogos, independientemente del país, tienen actitudes positivas para participar en el control del tabaquismo, pero no manejan la información relacionada ni ejercen un rol activo en la cesación. Probablemente esta situación se deba a la falta de entrenamiento durante sus estudios de pre y/o postgrado lo cual amerita una revisión de los planes curriculares de Odontología a nivel mundial (AU)

Introduction: Health care professionals have an important role in tobacco control. Dentists are capable of having a great impact in smoking cessation due to their regular contact with patients and the rapid detection of oral signs produced by smoking. Unfortunately, there are few dentists actively involved in smoking control. The aim of this study was to investigate various aspects of dentists’ beliefs and practices with respect to smoking cessation. Materials & Methods: A questionnaire about smoking cessation was filled in person by 293 dentists. 93dentists were from Caracas-Venezuela (VD), 90 were from Madrid-Spain (SD) and 110 from Milan-Italy (ID).Results: 46 SD and 22 ID were smokers. Only 10 VD admitted to smoke. 80 (86.02%) VD, 66 (73.33%) SD and100% of ID said that they recorded smoking status during the first consultation. However, none routinely update their records on smoking status. The majority of respondents encourage their patients to stop smoking, though, 72.04% (67) VD, 55.55% (50) SD and 100% ID do not recommend or prescribe any cessation therapy. Just 7 (2.38%) of all dentists had heard about the use of Bupropion, however, they had never indicated. Finally,137 dentists (108 ID) have diagnosed oral cancer in their patients (AU)

Paleonutritional analysis on the prehispanic population from La Palma (Canary Islands).

In this study, we determine bone strontium, barium, and calcium, as well as zinc, copper, and iron, in prehispanic samples belonging to adult individuals from the two main funerary caves from La Palma (Espigón and Barranco Porto), comparing them with our own modern controls. We have found that the Ba/Sr molar ratio of the individuals from Barranco Porto are significantly lower than that of the individuals from Espigón, thus suggesting a consumption of a marine-based diet by the former.

Study of renal metabolic disturbances related to renal lithiasis at school age in very-low-birth-weight children.

We studied 34 asymptomatic children who were born with a very-low-birth-weight (VLBW) and had no perinatal history of acute renal failure nor treatment with furosemide. The study was done at preschool or school age, looking for echographic changes and renal tubular disturbances which are known to predispose to renal lithiasis. The results were compared with those of a control group of 18 children who had been born at term with a body weight >2,500 g. One or more renal tubular disturbances were found in 64.70% of the VLBW children. Most frequently found were decreased ammonium excretion in response to furosemide (38.23%), enhanced N-acetylglucosaminidase excretion (35.29%), hypercalciuria (26.47%), and hypocitraturia (23.53%). Echography revealed renal cortical hyperechogenicity (17.65%) and renal lithiasis (8.82 %) in some of the VLBW children. We found a significant positive correlation (r = 0.7) between the perinatal level of plasma phosphate and the total amount of H+ excreted in response to furosemide at preschool or school age. Because these renal tubular anomalies may be precursors of future lithiasis, and the renal function and echography tests are not invasive, we suggest that renal tubular function be measured and followed up in every VLBW child, particularly when perinatal hypophosphatemia has occurred.

Bone marrow trephine biopsy: anterior superior iliac spine versus posterior superior iliac spine.

Bone marrow biopsy (BMB) is generally performed either on the anterior superior iliac spine (ASIS) or the posterior superior iliac spine (PSIS), the choice between these two sites depending largely upon practice at individual centres. No previous study has attempted to ascertain which of these two sites is preferable for needle BMB. We studied 72 biopsies, of which 36 were of the PSIS and 36 of the ASIS, measuring the length of the cylinder and the area of the histologic section. We asked those patients who had undergone BMB at both sites which had been the less painful. The cylinders obtained from the PSIS were found to have a significantly greater length and area than those obtained from the ASIS (P < 0.00001). Of the 13 patients who underwent BMB at both sites, 11 reported the PSIS biopsy to have been distinctly less painful (P = 0.012). We conclude that needle BMB of the PSIS provides samples of greater length and area, and is less painful, than that of the ASIS.