Almazan M.V.,Pediatrics Unit |
Ortega E.,Pediatrics Unit |
Moreno Torres R.,University of Granada |
Tovar M.,Pediatrics Unit |
And 7 more authors.
Pediatric Research | Year: 2015
Background:Our aim is to study the prevalence of subclinical celiac disease (CD) and analyze the diagnostic yield of a new rapid test in children aged 2-4.Methods:We carried out a cross-sectional study in a sample population of children aged 2-4 from the same metropolitan area. We recruited apparently healthy subjects, and collected clinical, anthropometric, analytical, and serological variables. We also tested for anti-gliadin IgA and anti-transglutaminase IgG and IgA using a rapid immunochromatographic test CD1WB and CD2WB (Operon, Zaragoza, Spain).Results:One hundred and ninety-eight children were recruited, signed the informed consent form, and completed the protocol (mean age 32.3 ± 9.2 mo, 53% males). CD prevalence according to the serological tests was 3% (CI 95%, 1.4-6.4%). Biopsies were used to confirm the diagnosis in all suspected cases. The sensitivity and negative predictive value of the CD2WB immunochromatographic test strip were 100% and 1, respectively. The sensitivity of CD1WB was 16.6% and its specificity was high (89.1%).Conclusion:The prevalence of subclinical CD in the sample group of 2-4-y old was higher than that found by other authors. The CD2WB immunochromatographic test strip is an excellent diagnostic screening tool with high sensitivity and negative predictive value.
PubMed | Institute Investigacion Biosanitaria Of Granada, University of Granada, University of Cordoba, Spain and Pediatrics Unit
Type: Journal Article | Journal: Pediatric research | Year: 2015
Our aim is to study the prevalence of subclinical celiac disease (CD) and analyze the diagnostic yield of a new rapid test in children aged 2-4.We carried out a cross-sectional study in a sample population of children aged 2-4 from the same metropolitan area. We recruited apparently healthy subjects, and collected clinical, anthropometric, analytical, and serological variables. We also tested for anti-gliadin IgA and anti-transglutaminase IgG and IgA using a rapid immunochromatographic test CD1WB and CD2WB (Operon, Zaragoza, Spain).One hundred and ninety-eight children were recruited, signed the informed consent form, and completed the protocol (mean age 32.39.2 mo, 53% males). CD prevalence according to the serological tests was 3% (CI 95%, 1.4-6.4%). Biopsies were used to confirm the diagnosis in all suspected cases. The sensitivity and negative predictive value of the CD2WB immunochromatographic test strip were 100% and 1, respectively. The sensitivity of CD1WB was 16.6% and its specificity was high (89.1%).The prevalence of subclinical CD in the sample group of 2-4-y old was higher than that found by other authors. The CD2WB immunochromatographic test strip is an excellent diagnostic screening tool with high sensitivity and negative predictive value.
Navarro-Jarabo J.M.,Gastroenterology Unit |
Ubina-Aznar E.,Gastroenterology Unit |
Tapia-Ceballos L.,Pediatrics Unit |
Ortiz-Cuevas C.,Radiology Unit |
And 3 more authors.
Journal of Gastroenterology and Hepatology (Australia) | Year: 2013
Background and Aim: Obesity is an important health-care problem in developed countries. It is considered a multisystemic disease, but it may also affect the liver, thus provoking non-alcoholic fatty liver disease. This disease has been less extensively studied among children than among adults. We propose to analyze the prevalence of hepatic steatosis among a pediatric population within an area in southern Europe besides the variables associated with its development and severity. Methods: Cross-sectional study carried out on a population of children aged 6-14 years inclusive, using abdominal ultrasound as a method to determine the presence and severity of hepatic steatosis; in addition, anthropometric and blood-tested parameters were examined to determine which of these were associated with steatosis. Results: One hundred forty-four children were analyzed, 84 male (58.3%). Steatosis was detected in 50 children (34.7%; 95% confidence interval [CI]: 26.0-42.0%). In six of these cases (12%), elevated aminotransferase levels were recorded. Factors found to be associated with steatosis were body mass index ≥99th percentile (odds ratio [OR] 3.58, 95% CI 1.16-15.6) and the level of alanine aminotransferase (ALT) (OR 1.08, 95% CI 1.03-1.13), while its severity was associated with ALT (OR 1.17, 95% CI 1.09-1.28). A level of ALT <23.5 UI/dL predicted lack of severe steatosis with an area under receiver operating characteristic curve of 0.805 (95% CI 0.683-0.927). Conclusions: Non-alcoholic fatty liver disease is common in the obese pediatric population in our geographical area. High levels of ALT are associated with severe steatosis, although having ALT above the normal range is not common. Also, the lack of severity of steatosis can be predicted in a subgroup of children with obesity. © 2013 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.
Mozzillo E.,University of Naples Federico II |
Delvecchio M.,Pediatrics Unit |
Carella M.,Medical Genetics Unit |
Grandone E.,Atherosclerosis and Thrombosis Unit |
And 11 more authors.
BMC Medical Genetics | Year: 2014
Background: Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is . The clinical phenotype of WFS2 differs from WFS1 for the absence of diabetes insipidus and psychiatric disorders, and for the presence of bleeding upper intestinal ulcers and defective platelet aggregation. After the first report of consanguineous Jordanian patients, no further cases of WFS2 have been reported worldwide. We describe the first Caucasian patient affected by WFS2. Case presentation: The proband was a 17 year-old girl. She presented diabetes mellitus, optic neuropathy, intestinal ulcers, sensorineural hearing loss, and defective platelet aggregation to ADP. Genetic testing showed a novel homozygous intragenic deletion of in the proband. Her brother and parents carried the heterozygous mutation and were apparently healthy, although they showed subclinical defective platelet aggregation. Long runs of homozygosity analysis from SNP-array data did not show any degree of parental relationship, but the microsatellite analysis confirmed the hypothesis of a common ancestor. Conclusion: Our patient does not show optic atrophy, one of the main diagnostic criteria for WFS, but optic neuropathy. Since the "asymptomatic" optic atrophy described in Jordanian patients is not completely supported, we could suppose that the ocular pathology in Jordanian patients was probably optic neuropathy and not optic atrophy. Therefore, as optic atrophy is required as main diagnostic criteria of WFS, it might be that the so-called WFS2 could not be a subtype of WFS. In addition, we found an impaired aggregation to ADP and not to collagen as previously reported, thus it is possible that different experimental conditions or inter-patient variability can explain different results in platelet aggregation. Further clinical reports are necessary to better define the clinical spectrum of this syndrome and to re-evaluate its classification. © 2014 Mozzillo et al.
Palumbo O.,Medical Genetics Unit |
Palumbo P.,Medical Genetics Unit |
Delvecchio M.,Pediatrics Unit |
Palladino T.,Medical Genetics Unit |
And 4 more authors.
American Journal of Medical Genetics, Part A | Year: 2015
We provide a detailed clinical and molecular characterization of an 11-year-old female patient presenting with neurodevelopmental delay (NDD), intellectual disability (ID), seizures, stereotypies and dysmorphic features. Chromosomal microarrays analysis (CMA) detected a small, rare de novo deletion on chromosome 12q24.31 encompassing 31 protein-coding RefSeq genes and a microRNA. Phenotypic comparison with molecularly well-defined cases previously reported in the literature harboring an overlapping 12q24.31 microdeletion indicate that these patients shared common clinical features including neurodevelopmental delay, intellectual disability and behavioral problems. Also, seizures and dysmorphic features are frequent and a consistent pattern was recognized. Since there are remarkable resemblance between the patient described here and at least another one previously reported, our report is provides supportive evidence for the existence of an emerging syndrome caused by a microdeletion in 12q24.31. We propose a minimal region shared among patients contributing to the etiology of the common clinical features observed suggesting as candidate, for the first time, the gene SETD1B which is a component of a histone methyltransferase complex. In addition, we speculate on the possible contributive role of the MIR4304 to some clinical features observed in our patient. Evaluation of more patients with well-characterized deletions within 12q24.31, as well as careful clinical assessment of them, is needed to corroborate our hypothesis, to perform a more detailed genotype-phenotype correlation and, finally, to fully delineate this emerging icrodeletion syndrome. © 2014 Wiley Periodicals, Inc.
Bianchini M.A.,Policlinic Hospital |
Bigi E.,Pediatrics Unit |
Repetto P.,Policlinic Hospital |
Ceccarelli P.,Policlinic Hospital |
And 4 more authors.
Journal of Pediatric Surgery | Year: 2012
We report a case of urinary bladder actinomycosis in childhood. In children abdominal actinomycosis is rare and unlikely involves the urinary tract, so it is often misdiagnosed. An 7-year-old boy was referred to a secondary level hospital because of abdominal pain and dysuria. Physical examination revealed a left hypochondrial mass. Hypothesizing a pelvic rhabdomyosarcoma, a biopsy with mini-laparotomy access was performed. The first histopathological analysis did not show any malignant cells, and a 14-day antibiotic course was ineffective. Reoperation and biopsy was needed, and the histopathological examination made the diagnosis possible. © 2012 Elsevier Inc.
Franceschi R.,Pediatrics Unit |
Gaudino R.,Pediatrics Unit |
Marcolongo A.,Obstetrics and Gynecology Unit |
Gallo M.C.,Pediatrics Unit |
And 3 more authors.
Fertility and Sterility | Year: 2010
Objective: To assess the prevalence of polycystic ovary syndrome (PCOS) in a cohort of young women with previous idiopathic central precocious puberty (ICPP) at least 3 years after menarche, and to look for any predictive factors of PCOS at the time ICPP was diagnosed. Design: Longitudinal study. Setting: Pediatrics unit, Verona, Italy. Patient(s): Forty-six young women (18.1 ± 3.0 years) who had been treated with GnRH analogues during childhood, observed at gynecologic age of 6.23 ± 3.3 years. Intervention(s): Semistructured interview concerning cycles, physical exam, blood sampling, and transabdominal pelvic ultrasound. Main Outcome Measure(s): Oligomenorrhea, LH, FSH, E2, T, DHEAS, free T, delta4-androstenedione, 17-OHP, P, polycystic ovary morphology (PCOM). Result(s): Fifteen percent of the young women had oligomenorrhea, 28% clinical hyperandrogenism, 48% biochemical hyperandrogenism, and 37% PCOM. A total of 32% of the patients had PCOS according to the Rotterdam definition and 30% had PCOS according to the Androgen Exess Society. The prevalent phenotype of PCOS was characterized by clinical and/or biochemical hyperandrogenism and PCOM. We did not find any predictive factors for PCOS at the time ICPP was diagnosed. Conclusion(s): Patients with ICCP are prone to developing PCOS. The prominent phenotype in this cohort was PCOM associated with clinical and/or biochemical hyperandrogenism. Further follow-ups of these young adult patients will clarify whether this phenotype persists and if it will have important long-term implications regarding increased risk of infertility or metabolic complications. © 2010 American Society for Reproductive Medicine.
Delvecchio M.,Pediatrics Unit |
Faienza M.F.,University of Bari |
Lonero A.,University of Bari |
Rutigliano V.,University of Bari |
And 2 more authors.
Hormone Research in Paediatrics | Year: 2014
Background/Aims: Prolactin (PRL) is produced by the anterior pituitary gland. It exerts its role on the breast gland but also plays a modulatory role in autoimmune mechanisms. Celiac disease (CD) is a gluten-sensitive autoimmune enteropathy sometimes associated with autoimmune endocrinopathies. No data on PRL levels in CD patients are available at diagnosis, and no conclusive data are reported. Methods: We aimed to evaluate PRL secretion in newly diagnosed CD pediatric patients and, in the case of hyperprolactinemia, any changes in its levels while the patients were on a gluten-free diet (GFD). We recruited 67 patients and 39 healthy controls. Results: PRL was statistically higher in the CD patients (13.5 ± 9.2 ng/ml) than in the controls (8.5 ± 5.0 ng/ml). In the CD group, PRL was inversely correlated with the age at diagnosis (r = -0.326; p = 0.007). In patients with hyperprolactinemia at diagnosis, PRL decreased after 6 months of GFD. Conclusion: This paper confirms that PRL may be increased at diagnosis of CD and shows, for the first time, that it decreases after a short course of GFD. Changes in the levels of inflammatory cytokines in CD may account for changes in PRL levels. Younger patients seem more prone to develop hyperprolactinemia than older ones. © 2014 S. Karger AG, Basel.
Sanchez-Solis M.,University of Murcia |
Garcia-Marcos L.,University of Murcia |
Bosch-Gimenez V.,University of Murcia |
Perez-Fernandez V.,Pediatrics Unit |
And 2 more authors.
Pediatric Pulmonology | Year: 2012
Objective Both healthy preterm infants and those with bronchopulmonary dysplasia (BPD) have poor lung function during childhood and adolescence, although there is no evidence whether prematurity alone explains the reduction in lung function found in BPD infants. Our study seeks to know if lung function, measured in infancy by means of rapid thoracic compression with raised volume technique, is different between preterm infants with and without BPD. Methods Lung function was measured in 43 preterm infants with BPD and in 32 preterm infants without BPD at a chronological age range of 2-28 months. Forced vital capacity (FVC), forced expiratory volume at 0.5âsec, and forced expiratory flows at 50, 75, 85%, and 25-75% of FVC were obtained from maximal expiratory volume curves by means of rapid thoracic compression with raised volume technique. Maximal flow at functional residual capacity was measured using rapid thoracic compression at tidal volume. Multiple regression analysis and generalized least squares (GLS) random-effects regression model were used to control for variables such as gender, weeks of gestation, age, birth weight, and tobacco smoke exposure. A sub-analysis was performed in infants born at 28+ weeks of gestation. Results BPD was associated to significantly lower flows (regression coefficients: -0.51, -0.54, -57, -0.53, and -0.82, respectively for FEF 50, FEF 75, FEF 85, FEF 25-75). This association was driven by males and maintained in the subgroup of infants born at 28+ weeks of gestation. Conclusion BPD is associated with an additional decrease of lung function during the first 2 years of life in infants born preterm. Pediatr Pulmonol. 2012; 47:674-681. © 2011 Wiley Periodicals, Inc.
PubMed | University of Lausanne, Instituto Of Ricovero E Cura A Carattere Scientifico, Telethon Institute of Genetics and Medicine, University of Modena and Reggio Emilia and 2 more.
Type: | Journal: Italian journal of pediatrics | Year: 2015
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C>A; p.S64X and c.818A>G; p.D273G).