Martin Martin R.,Pediatra. CS Reina Victoria |
Sanchez Bayle M.,Hospital Infantil Nino Jesus |
Teruel de Francisco M.C.,Pediatra. CS Cea Bermudez
Pediatria de Atencion Primaria | Year: 2017
Objective: to study the prevalence of co-sleeping in in the families of children attending pediatric Primary Care consultations and its relation with a certain number of aspects of their upbringing. Patients and methods: case-control study with assessment questionnaires. A total of 317 surveys were collected from parents of children between the ages of 6 and 24 months who belonged to two Primary Care consultations in Madrid-Spain. Children who practiced co-sleeping were considered as cases whereas those who did not were considered control group. The number of nocturnal awakenings, episodes of lower respiratory tract infection and the duration of exclusive or complementary breastfeeding have been used as outcome indicators. Results: the variables positively related to co-sleeping in the multivariate analysis are: the duration of exclusive breastfeeding, odds ratio (OR) = 1,127 (p = 0,008) and complementary breastfeeding, OR = 0,126 (p < 0,0001); the number of nocturnal awakenings over three times, OR = 1,844 (p = 0,001) and smoking habit by one or both progenitors OR = 2,290 (p = 0,008). The socioeconomic level acts as a protection factor OR = 0,545 (p = 0,001). The presence of lower respiratory tract infections was more frequent in the co-sleeping group, but had no statistical significance in the multivariate analysis. Conclusions: the results indicate that co-sleeping favours breastfeeding and its extension through time. Nevertheless, it also favours children’s nocturnal awakening and increases the risk of lower respiratory infections. The low socioeconomic level of the families and tobacco smoking are factors that favour co-sleeping. © 2017, Spanish Association of Primary Care Pediatrics. All rights reserved.
Flanagan S.E.,University of Exeter |
De Franco E.,University of Exeter |
Lango Allen H.,University of Exeter |
Zerah M.,Presbyterian Medical Group |
And 14 more authors.
Cell Metabolism | Year: 2014
Understanding transcriptional regulation of pancreatic development is required to advance current efforts in developing beta cell replacement therapies for patients with diabetes. Current knowledge of key transcriptional regulators has predominantly come from mouse studies, with rare, naturally occurring mutations establishing their relevance in man. This study used a combination of homozygosity analysis and Sanger sequencing in 37 consanguineous patients with permanent neonatal diabetes to search for homozygous mutations in 29 transcription factor genes important for murine pancreatic development. We identified homozygous mutations in 7 different genes in 11 unrelated patients and show that NKX2-2 and MNX1 are etiological genes for neonatal diabetes, thus confirming their key role in development of the human pancreas. The similar phenotype of the patients with recessive mutations and mice with inactivation of a transcription factor gene support there being common steps critical for pancreatic development and validate the use of rodent models for beta cell development. © 2014 The Authors.
Roman J.P.,Hospital Infantil Nino Jesus |
Roman J.P.,Autonomous University of Madrid
Pediatria Integral | Year: 2010
Noonan Syndrome (NS) is a relatively frequent genetic, non-chromosomal disorder (1>1,000/2,500 live newborns), that is clinically variable and genetically heterogeneous. It is inherited with autosomal dominant character, although most of the cases are or seem to be sporadic. Clinically, it is characterized by early onset postnatal slow failure to thrive, characteristic facial phenotype, cardiac defects (especially pulmonary stenosis) and a variable cognitive deficit, among other aspects. It is caused by germ line mutations which, through different mechanisms, hyperactivate the RAS-mitogen activated protein kinase (MAPK) signal transduction intracellular pathway. Until now, there is knowledge about 7 genes involved (PTPN11, SOS1, KRAS, SHOC2, RAF1, BRAF and MEK1) that are responsible for about 70% of the cases of Noonan syndrome or closely related clinical pictures. The diagnosis is clinical and can be confirmed molecularly in most of the cases. The differential diagnosis is especially proposed with a group of syndromes that have very similar phenotypes and a common pathogenic base, generically called "Neuro-cardio-facial- cutaneous-syndromes". Among these, the following syndromes are included: LEOPARD, cardio-facial-cutaneous, Costello, neurofibromatosis-Noonan and Legius. The treatment of this syndrome is symptomatic.
del Rio P.R.,Hospital Infantil Nino Jesus |
Diaz-Perales A.,Technical University of Madrid |
Sanchez-Garcia S.,Hospital Infantil Nino Jesus |
Escudero C.,Hospital Infantil Nino Jesus |
And 5 more authors.
Journal of Investigational Allergology and Clinical Immunology | Year: 2014
Background: IgE-mediated wheat allergy affects around 0.5% of the population, and current management is based on avoidance. We propose an active intervention to promote tolerance in wheat-allergic children. Objectives: To investigate the efficacy and safety of an oral immunotherapy (OIT) protocol with wheat to treat IgE-mediated wheat-allergic children. Methods: Six wheat allergic patients assessed in a double-blind, placebo-controlled food challenge (DBPCFC) underwent wheat OIT with an up-dosing phase until 100 g of wheat was tolerated, followed by a 6-month maintenance phase. Tolerance to rye and oat was evaluated, as were specific IgE (sIgE) to wheat and other cereals and sIgE, sIgG4, and sIgG1 to a panel of wheat proteins (α-amylase and trypsin inhibitors, wheat lipid transfer proteins, gliadins, and glutenins). Results: Threshold doses in the wheat DBPCFC ranged from 6.6 g to 96.6 g. Five out of 6 (83%) patients successfully finished the updosing phase in 3 to 24 days; after a 6-month maintenance phase, all the patients maintained good tolerance of 100 g of wheat daily. Only 6.25% of doses in the up-dosing phase elicited mild adverse reactions. All 5 patients who successfully finished the up-dosing phase tolerated rye after OIT, and all but 1 tolerated oat as well. The median baseline wheat sIgE was 47.5 kUA/L, increasing to 84.55 kUA/L after up-dosing and decreasing to 28.75 kUA/L after 6 months of follow-up. None of the patients showed sIgE to 5-ω-gliadin, but α-amylase inhibitors were recognized by all patients. Specific IgG4 and sIgG1 increased in all patients. Conclusions: Our wheat OIT protocol was safe, efficient, and rapid. In our population, α-amylase was the major allergen. © 2014 Esmon Publicidad.
Isasi C.,Hospital Puerta Of Hierro |
Colmenero I.,Hospital Infantil Nino Jesus |
Casco F.,Hospital Infantil Nino Jesus |
Tejerina E.,Hospital Puerta Of Hierro |
And 4 more authors.
Rheumatology International | Year: 2014
Fibromyalgia (FM) syndrome is a disabling clinical condition of unknown cause, and only symptomatic treatment with limited benefit is available. Gluten sensitivity that does not fulfill the diagnostic criteria for celiac disease (CD) is increasingly recognized as a frequent and treatable condition with a wide spectrum of manifestations that overlap with the manifestations of FM, including chronic musculoskeletal pain, asthenia, and irritable bowel syndrome. The aim of this report was to describe 20 selected patients with FM without CD who improved when placed on a gluten-free diet. An anti-transglutaminase assay, duodenal biopsy, and HLA typing were performed in all cases. CD was ruled out by negative anti-transglutaminase assay results and absence of villous atrophy in the duodenal biopsy. All patients had intraepithelial lymphocytosis without villous atrophy. Clinical response was defined as achieving at least one of the following scenarios: remission of FM pain criteria, return to work, return to normal life, or the discontinuation of opioids. The mean follow-up period was 16 months (range 5–31). This observation supports the hypothesis that non-celiac gluten sensitivity may be an underlying cause of FM syndrome. © 2014, The Author(s).
Higher doses of CD34+ PBPC are associated with a rapid acquisition of full donor chimerism and lower risk of relapse after allogeneic transplantation in pediatric patients with hematological malignancies
Gonzalez-Vicent M.,Hospital Infantil Nino Jesus |
Diaz M.A.,Hospital Infantil Nino Jesus
Journal of Pediatric Hematology/Oncology | Year: 2011
We conducted a retrospective study assessing the predictive value of early full donor chimerism status for relapse after allogeneic peripheral blood progenitor cell transplantation in 40 children aged between 1 and 16 years (median 8) with leukemia. The only variable that had a significant influence on chimerism status in either univariate or multivariate analysis was the number of CD34 cells infused. We found that the patients who were in complete donor chimerism by day +30 had a lower probability of relapse than those who were not (14%±6% versus 54%±15%; HR, 5.24; 95% confidence interval, 2.10-43.63; P=0.003). Mixed chimerism by day +30, absence of chronic GvHD, and advanced disease at transplantation were significant risk factors for relapse in our patients. Children who presented early complete chimerism had a probability of developing chronic graft versus host disease significantly higher than patients with mixed chimerism (P=0.04). Therefore, the analysis of chimerism kinetic in children undergoing peripheral blood progenitor cell transplantation would permit an early identification of patients at risk of relapse and patients with high risk of developing chronic graft versus host disease. © 2011 Lippincott Williams & Wilkins, Inc.
Prieto-Torres L.,Hospital Infantil Nino Jesus |
Torrelo A.,Hospital Infantil Nino Jesus
Pediatria Integral | Year: 2016
Eczema is a clinicopathologic concept comprising a number of dermatological diseases that share a series of clinical manifestations, that include papules and plaques with erythema, edema, blistering, scaling, hyperkeratosis, fissuring, excoriation and lichenification, as well as a histological pattern with spongiosis in the epidermis. Classically, eczema is classified according to its origin in exogenous and endogenous. Recent discoveries point to an important implication of the skin barrier function and epidermal proteins, in particular filaggrin, in the development both of atopic dermatitis (AD) as the main representative of endogenous eczema and allergic contact dermatitis (ACD) as the main representative of exogenous eczema. Up to 20% of children are affected by AD, and proper diagnosis and management are essential for the prognosis and quality of life of these children. © 2016, Ediciones Ergon SA. All rights reserved.
Armengot-Carbo M.,Hospital Infantil Nino Jesus |
Hernandez-Martin A.,Hospital Infantil Nino Jesus |
Torrelo A.,Hospital Infantil Nino Jesus
Actas Dermo-Sifiliograficas | Year: 2015
Filaggrin is a structural protein that is fundamental in the development and maintenance of the skin barrier. The function of filaggrin and its involvement in various cutaneous and extracutaneous disorders has been the subject of considerable research in recent years. Mutations in FLG, the gene that encodes filaggrin, have been shown to cause ichthyosis vulgaris, increase the risk of atopic dermatitis and other atopic diseases, and exacerbate certain conditions. The present article reviews the current knowledge on the role of filaggrin in the skin barrier, FLG mutations, and the consequences of filaggrin deficiency. © 2013 Elsevier España, S.L.U. and AEDV.
Rinon Pastor C.C.,Hospital Infantil Nino Jesus
Cirugía pediátrica : organo oficial de la Sociedad Española de Cirugía Pediátrica | Year: 2013
Neuroblastoma is the most frequent adrenal mass in paediatric patients. Paediatric series about laparoscopic adrenalectomy are scarce, usually including adrenal masses from different origin. Series referring only to neuroblastoma are very rare. We present 7 patients between 4 and 48 month of age. We performed 8 laparoscopic adrenalectomy and one biopsy. Lateral transperitoneal approach was used in all patients. We employed 3 ports on the left side and 4 on the right side. All tumours were extracted into a bag through the most posterior incision. One patient underwent a laparotomy because of important adherences. The average operative time was 88 minutes, and average time before discharging was 48 hours. Laparoscopic adrenalectomy is the gold standard in adult patients. Transperitoneal access achieves better working area. Paediatric patients don't have many surgical indications for adrenalectomy and the space inside the patient's body is smaller. Laparoscopy offers a less painful solution than open surgery, so that sooner discharging, and better scar's results. The outcome is similar to traditional surgery. Laparoscopy is an useful and safe procedure in paediatric patients with adrenal neuroblastoma, in very selected cases.
Sanz Santiago V.,Hospital Infantil Nino Jesus |
Lopez Neyra A.,Hospital Infantil Nino Jesus |
Almeria Gil E.,Hospital Infantil Nino Jesus |
Villa Asensi J.R.,Hospital Infantil Nino Jesus
Anales de Pediatria | Year: 2013
Introduction: Vocal cord dysfunction (VCD) is a rare disease characterized by a paradoxical closure of the vocal cords, usually in inspiration, that causes dyspnea and stridor. The spirometry pattern that is more often described is a plateau in the inspiratory curve, but it can be also found in the expiratory loop The aim of this study was to evaluate the most common spirometry characteristics of patients with VCD and, secondarily, to describe the clinical and demographic characteristics and the treatment of patients with a definitive diagnosis of this disease. Material and methods: A retrospective study was made of cases of VCD between 2000 and 2010. Diagnosis was considered definitive when a paradoxical closure of the vocal cords became clear on laryngoscopy. Exercise challenge on a treadmill was performed to produce symptoms. Demographic and clinical data were collected, and flow-volume curves were studied. Results: Of 36 suspected cases, VCD was confirmed in 11 (30.5%). The mean age was 13.5 years, 10 were female. Possible triggers were found in 5 patients. Six patients had a previous history of asthma. All patients had a plateau in the inspiratory curve, and 9 (81%) of them also in the expiratory loop. Only 4 patients had a ratio between maximum inspiratory and expiratory flows at 50% of forced vital capacity (MEF50%/MIF50%) > 2.2. Conclusions: Although the most frequent spirometry pattern in VCD is a plateau in the inspiratory curve, a significant percentage of patients also have a plateau in the expiratory curve. This could invalidate the MEF50%/MIF50% ratio for the diagnosis of VCD. © 2012 Asociación Española de Pediatrla. Published by Elsevier España, S.L. All rights reserved.