Time filter

Source Type

Montaner Ramon A.,Hospital Infantil Miguel Servet | Murillo Sanjuan L.,Hospital Infantil Miguel Servet | Martinez Faci C.,Hospital Infantil Miguel Servet | Guerrero Laleona C.,Hospital Infantil Miguel Servet | Rodriguez-Vigil Iturrate C.,Hospital Infantil Miguel Servet
Archivos Argentinos de Pediatria | Year: 2017

Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200, 000-250, 000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms. We report three cases of CGD in which Serratia marcescens was isolated, and after detailed anamnesis and performance of neutrophil function tests, a molecular diagnosis of the disease was reached. CGD can be manifested in a wide variety of ways, so that high suspicion and a meticulous anamnesis are essential to reach a diagnosis.

Jordan I.,Hospital Sant Joan Of Deu | Balaguer M.,Hospital Sant Joan Of Deu | Lopez-Castilla J.-D.,Hospital Infantil Virgen Del Rocio | Belda S.,Hospital 12 Of Octubre | And 6 more authors.
Pediatric Infectious Disease Journal | Year: 2014

Background: Prediction rules for invasive Candida infection (ICI) are available for adult but not for infants and children managed in pediatric intensive care units (PICU). Methods: Observational study in 24 PICU with prospective phase (all children admitted during 1 year) and retrospective review of ICI records. Four logistic regression models were performed using ICI by Candida spp., Candida albicans, Candida parapsilosis or Candida tropicalis as dependent variables. Scores were constructed. Results: One hundred and twenty five ICI (47 C. albicans, 37 C. parapsilosis, 19 C. tropicalis and 22 others) and 1022 controls were included. Incidence (cases/100 PICU admissions): 4.22 (all Candida), 2.44 (C. albicans), 1.41 (C. parapsilosis), 0.19 (C. tropicalis). ICI was associated [Area under the receiver operating characteristics curve (AUC) = 0.764, 95% confidence interval (CI) = 0.719-0.809, P < 0.001] with pre- PICU hospitalization ≥15 days [odds ratio (OR) = 3.3; score: +3], fever (OR = 2.6; +2), thrombopenia (OR = 2.0; +1) and parenteral nutrition (OR=2.4; +2). Additionally, the following associations were noted: C. albicans ICI (AUC = 0.716, 95% CI = 0.640-0.792, P < 0.001) with chronic metabolic disease (OR = 10.7; score:+4), surgical digestive process (OR = 2.8; +1), fever (OR = 2.8; +1) and parenteral nutrition (OR = 2.3; +1); C. parapsilosis ICI (AUC = 0.808, 95% CI = 0.739-0.877, P < 0.001) with previous colonization (OR = 7.1; score:+3), tracheostomy (OR = 5.1; +2), parenteral nutrition (OR = 4.3; +2), thrombopenia (OR = 3.6; +1) and previous bacterial infection (OR = 3.0; +1) and ICI by C. tropicalis (AUC = 0.941, 95% CI=0.886-0.995, P < 0.001) with thrombopenia (OR = 53.8; score: +10), neutropenia (OR = 7.2; +1), pre-PICU hospitalization ≥15 days (OR = 17.2; +3) and hematologic (OR = 22.4; +4) and cardiovascular infectious processes (OR = 5.5; +1). Specificity was >90% for cut offs of 5 (all Candida), 3 (C. albicans), 3 (C. parapsilosis) and 11 (C. tropicalis). Conclusions: Once validated, these scores may help for identification of ICI by specific species allowing adequate empiric/prophylactic treatment. Copyright © 2014 by Lippincott Williams & Wilkins.

Claverie-Martin F.,Hospital Nuestra Senora Of Candelaria | Garcia-Nieto V.,Hospital Nuestra Senora Of Candelaria | Loris C.,Hospital Infantil Miguel Servet | Ariceta G.,Hospital Of Cruces | And 14 more authors.
PLoS ONE | Year: 2013

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the CLDN16 and CLDN19 genes. These genes encode the tight junction proteins claudin-16 and claudin-19, respectively, which regulate the paracellular ion reabsortion in the kidney. Patients with mutations in the CLDN19 gene also present severe visual impairment. Our goals in this study were to examine the clinical characteristics of a large cohort of Spanish patients with this disorder and to identify the disease causing mutations. We included a total of 31 patients belonging to 27 unrelated families and studied renal and ocular manifestations. We then analyzed by direct DNA sequencing the coding regions of CLDN16 and CLDN19 genes in these patients. Bioinformatic tools were used to predict the consequences of mutations. Clinical evaluation showed ocular defects in 87% of patients, including mainly myopia, nystagmus and macular colobomata. Twenty two percent of patients underwent renal transplantation and impaired renal function was observed in another 61% of patients. Results of the genetic analysis revealed CLDN19 mutations in all patients confirming the clinical diagnosis. The majority of patients exhibited the previously described p.G20D mutation. Haplotype analysis using three microsatellite markers showed a founder effect for this recurrent mutation in our cohort. We also identified four new pathogenic mutations in CLDN19, p.G122R, p.I41T, p.G75C and p.G75S. A strategy based on microsequencing was designed to facilitate the genetic diagnosis of this disease. Our data indicate that patients with CLDN19 mutations have a high risk of progression to chronic renal disease. © 2013 Claverie-Martin et al.

Estors Sastre B.,Hospital Infantil Miguel Servet | Requena Diaz M.,Hospital Infantil Virgen Del Rocio | Gonzalez Temprano N.,Complejo Hospitalario Of Navarra | Chocarro Amatriain G.,Hospital Universitario La Paz | And 2 more authors.
Anales de Pediatria | Year: 2013

Sinus pericranii is a rare vascular anomaly in which an abnormal communication exists between the extracranial venous system and the dural venous sinuses. The natural history in most cases consists of a purplish nodule in the frontal region that may gradually increase in size. Different treatment options can be chosen: from observation of the lesion, to endovascular embolization of intracerebral component or a complete resection of both anomalous components (extra- and intra-cranial) by surgery. In this context, potential life-threatening complications including thrombosis and cerebral hemorrhage can occur. Here we present our experience in management of sinus pericranii, and emphasize the importance of a multidisciplinary therapeutic approach of this uncommon entity. © 2012 Asociacin Española de Pediatría. Published by Elsevier España, S.L. All rights reserved.

Lopez Ramon M.,Hospital Infantil Miguel Servet | Garcia De La Calzada M.D.,Hospital Infantil Miguel Servet | Dominguez Cunchillos M.,Hospital Infantil Miguel Servet | Salazar Mena J.,Hospital Infantil Miguel Servet
Anales de Pediatria | Year: 2013

Endomyocardial fibrosis is a restrictive cardiomyopathy of unknown etiology prevalent in tropical regions. It is characterized by fibrotic obliteration of the apex of one or both ventricles, which can be extended to the ventricular inlet chamber. It predominantly affects children and young adults. There is no specific treatment and usually has a poor prognosis. It is uncommon in Spain, but due to immigration, it appears to be increasing. Four cases of endomyocardial fibrosis in children diagnosed and treated in Spain are presented, as a well as a review of this disease.

Madurga Revilla P.,Hospital Infantil Miguel Servet | Aguar Carrascosa M.,Hospital Infantil la Fe | Pereda Perez A.,Hospital Infantil la Fe | Modesto Alapont V.,Hospital Infantil la Fe | And 4 more authors.
Anales de Pediatria | Year: 2012

Introduction: Despite the low prevalence of paediatric HCV infection and its initial mild clinical expressiveness, chronic infection could progress into cirrhosis and/or hepatocarcinoma. It is essential to control vertical transmission. Recent studies show that up to 50% of transmissions occur within the uterus. Material y methods: A retrospective study was conducted on 17 cases of (Hepatitis C virus) HCV infection registered over a period of 8 years. Vertical transmission risk factors were analysed, in order to introduce primary prevention. Results: Only parenteral drug addiction significantly increased the rate of HCV transmission; HIV co-infection was not a confounding factor. HCV viremia, HIV co-infection, liver dysfunction and/or duration of the infection did not appear to affect the rate of transmission. Caesarean section, amniocentesis and internal monitoring may be risk factors (not statistically significant), but not prolonged vaginal delivery after amniotic membrane rupture. Breastfeeding showed protection. Conclusions: The effect of viremia on the risk of transmission is not clearly established, despite the importance usually attributed. Lack of viremia does not discount the risk of transmission, due to viral RNA detection can be intermittent, so it should be interpreted cautiously. Immunosuppression secondary to HIV co-infection implies a higher risk of transmission, but this effect decreases by improving immune competence by antiretroviral treatment. With regard to the birth characteristics, time after the rupture of membranes has not shown being a risk factor; being the caesarean not advisable as a good alternative to finish the pregnancy. Breastfeeding does not increase the risk, even it can be protective. This results would be justified by the low viral content of milk, its inactivation by gastric pH and its immunological benefits. Given that retrospective studies results are limited, prospective studies need to be carried out in order to improve the understanding of the role of possible risk factors and to provide a clear preventive guidelines. At the moment it is essential to control all the children born of mothers with HCV infection. © 2012 Asociación Españolade Pediatría. Published by Elsevier España, S.L. All rights reserved.

PubMed | Hospital Infantil Miguel Servet
Type: Case Reports | Journal: Archivos argentinos de pediatria | Year: 2016

Azathioprine is an immunosuppressive drug that has shown effectiveness in inflammatory bowel disease treatment. Its metabolite, 6-mercaptopurine, is metabolized through thiopurine methyltransferase. Patients with low enzyme activity may have more frequent and severe side effects. The most common is leukopenia, and rarely pancytopenia. The thiopurine methyltransferase activity monitoring shows an individualized profile of enzymatic activity but it should not replace monitoring by performing serial blood counts. In patients with fever and severe neutropenia, early empirical antibiotic treatment should be initiated to prevent severe and disseminated infection. Two patients with this condition are reported.

PubMed | Hospital Infantil Miguel Servet
Type: Case Reports | Journal: Anales de pediatria (Barcelona, Spain : 2003) | Year: 2011

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resistance, GNAS (Gs()) mutations and signs of Albrights hereditary osteodystrophy (AHO). PseudoPHP (PPHP) have isolated AHO without hormonal resistance and it is also caused by GNAS mutations. We present a family that share the same inactivating GNAS mutation (Asn264LysfsX35); the mother being affected with PPHP and the two daughters with PHP-Ia. We discuss the different clinical phenotypes and the dominant mode of inheritance with genetic imprinting where the phenotype of the offspring depends on the sex of the parent affected.

PubMed | Hospital Infantil Miguel Servet
Type: Case Reports | Journal: Archivos argentinos de pediatria | Year: 2016

Gestational alloimmune liver disease, previously known as neonatal hemochromatosis, is characterized by severe liver disease in neonatal period, associated with intra and extrahepatic iron accumulation. It is postulated an alloimmune origin, which has opened new opportunities in the treatment and prevention during risk pregnancies, changing the prognosis of this pathology. We report the case of a newborn that presents early liver failure, with clinical and analytical features compatible with gestational alloimmune liver disease. Exchange transfusion was made and gamma globulins were given, with good clinical evolution.

PubMed | Hospital Infantil Miguel Servet
Type: Journal Article | Journal: Archivos argentinos de pediatria | Year: 2015

Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 2(8/12) and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed.

Loading Hospital Infantil Miguel Servet collaborators
Loading Hospital Infantil Miguel Servet collaborators