Search Results - "Salpietro, Carmelo Damiano"

Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion by Capra, Anna Paola, Ferro, Elisa, La Rosa, Maria Angela, Briuglia, Silvana, Russo, Tiziana, Arena, Salvatore, Salpietro Damiano, Carmelo, Romeo, Carmelo, Impellizzeri, Pietro

“…Purpose Testicular torsion (TT) mainly affects boys under 18 years old. To avoid orchiectomy, TT requires an immediate operative management. The etiology of TT…”
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Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease by Rigoli, Luciana, Romano, Claudio, Caruso, Rosario Alberto, Lo Presti, Maria A, Di Bella, Chiara, Procopio, Vincenzo, Lo Giudice, Giuseppina, Amorini, Maria, Costantino, Giuseppe, Sergi, Maria D, Cuppari, Caterina, Calabro, Giovanna Elisa, Gallizzi, Romina, Salpietro, Carmelo Damiano, Fries, Walter

“…AIM： To evaluate the role of genetic factors in the pathogenesis of Crohn＇s disease （CD） and ulcerative colitis （UC）, we investigated the single nucleotide…”
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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay by Colosimo, Alessia, Guida, Valentina, Rigoli, Luciana, Di Bella, Chiara, De Luca, Alessandro, Briuglia, Silvana, Stuppia, Liborio, Carmelo Salpietro, Damiano, Dallapiccola, Bruno

“…Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and neurodegeneration also known by the acronym DIDMOAD from the major clinical…”
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Early Identification of Cardiovascular Involvement in Patients With β-Thalassemia Major by Cusmà Piccione, Maurizio, MD, Piraino, Basilia, MD, Zito, Concetta, MD, PhD, Khandheria, Bijoy K., MD, Di Bella, Gianluca, MD, PhD, De Gregorio, Cesare, MD, Oreto, Lilia, MD, Rigoli, Luciana, MD, Ferraù, Valeria, MD, Salpietro, Carmelo Damiano, MD, Carerj, Scipione, MD

“…The aim of the present study was to evaluate left ventricular myocardial deformation and carotid arterial stiffness using 2-dimensional strain and…”
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Correlation of s-IgA and IL-6 Salivary with Caries Disease and Oral Hygiene Parameters in Children by Lo Giudice, Giuseppe, Nicita, Fabiana, Militi, Angela, Bertino, Rossella, Matarese, Marco, Currò, Monica, Damiano, Carmelo Salpietro, Mannucci, Carmen, Calapai, Gioacchino

“…This study evaluates salivary immunoglobulin A (s-IgA) and interleukin 6 (IL-6) in saliva of children and its correlation to tooth decay severity. Fifty-nine…”
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NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared by Lacquaniti, Antonio, Chirico, Valeria, Donato, Valentina, Briuglia, Silvana, Cernaro, Valeria, Gallizzi, Romina, Salpietro, Carmelo Damiano, Buemi, Michele

“…Joubert syndrome (JBTS) is a rare autosomal recessive disorder with an underestimated prevalence due to lack of recognition of clinical signs or failure to…”
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Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia by Salpietro, Carmelo Damiano, Briuglia, Silvana, Cutrupi, Maria Concetta, Gallizzi, Romina, Rigoli, Luciana, Dallapiccola, Bruno

“…Mastocytosis refers to a heterogeneous group of rare disorders characterized by an abnormal accumulation of mast cells in one or more organ systems. Cutaneous…”
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Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children by Rigoli, Luciana, Di Bella, Chiara, Procopio, Vincenzo, Finocchiaro, Giuseppe, Amorini, Maria, Lo Giudice, Giuseppina, Cuppari, Caterina, Salpietro, Carmelo Damiano

“…The secretory protein, uteroglobin-related protein 1 (UGRP1), is expressed mainly in the lung and trachea and recently has been implicated in asthma. The -112G…”
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A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting by SALPIETRO, Carmelo Damiano, BRIUGLIA, Silvana, MERLINO, Maria Valeria, DI BELLA, Chiara, RIGOLI, Luciana

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Disomy of distal Xq in males: Case report and overview by Novelli, Antonio, Bernardini, Laura, Salpietro, Damiano Carmelo, Briuglia, Silvana, Merlino, Maria Valeria, Mingarelli, Rita, Dallapiccola, Bruno

“…A 46,XYq 8‐year‐old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed…”
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Hallerman-Streiff syndrome: Patient with decreased GH and insulin-like growth factor-1 by Damiano Salpietro, Carmelo, Briuglia, Silvana, Valeria Merlino, Maria, Piraino, Basilia, Valenzise, Mariella, Dallapiccola, Bruno

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Pain in neonatal intensive care: role of melatonin as an analgesic antioxidant by Gitto, Eloisa, Aversa, Salvatore, Salpietro, Carmelo Damiano, Barberi, Ignazio, Arrigo, Teresa, Trimarchi, Giuseppe, Reiter, Russel J., Pellegrino, Salvatore

“…:  Endotracheal intubation is a common painful procedure in newborn care. Neonates are more sensitive to pain than older infants, children, and adults, and…”
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Early Identification of Cardiovascular Involvement in Patients With ?-Thalassemia Major by Cusmà Piccione, Maurizio, Piraino, Basilia, Zito, Concetta, Khandheria, Bijoy K, Di Bella, Gianluca, De Gregorio, Cesare, Oreto, Lilia, Rigoli, Luciana, Ferraù, Valeria, Salpietro, Carmelo Damiano, Carerj, Scipione

“…The aim of the present study was to evaluate left ventricular myocardial deformation and carotid arterial stiffness using 2-dimensional strain and…”
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Oxidative stress and persistent pulmonary hypertension of the newborn treated with inhaled nitric oxide and different oxygen concentrations by Gitto, Eloisa, Pellegrino, Salvatore, Aversa, Salvatore, Romeo, Carmelo, Trimarchi, Giuseppe, Barberi, Ignazio, Calabró, Maria Pia, Salpietro, Carmelo Damiano, Reiter, Russell J.

“…Objectives: The aim of this study was to determine the effects of inhaled NO with different oxygen concentrations on the inflammatory cascade in newborns with…”
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On the use of conventional and tissue Doppler echocardiography in patients with β-Thalassemia major and myocardial iron-overload: Preliminary data by a single centre study by de Gregorio, Cesare, Piraino, Basilia, Morabito, Gaetano, Salpietro, Carmelo Damiano, Coglitore, Sebastiano

“…Abstract β-Thalassemia Major (βTM) is a hereditary chronic haemolytic anaemia that requires multiple blood transfusions all along lifetime. Late complication…”
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Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation by Valente, Enza Maria, Salpietro, Damiano Carmelo, Brancati, Francesco, Bertini, Enrico, Galluccio, Tiziana, Tortorella, Gaetano, Briuglia, Silvana, Dallapiccola, Bruno

“…Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a…”
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Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies by RIGOLI, Luciana, CHIMENZ, Roberto, DI BELLA, Chiara, CAVALLARO, Emanuela, CARUSO, Rosario, BRIUGLIA, Silvana, FEDE, Carmelo, SALPIETRO, Carmelo Damiano

“…Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital…”
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Increased protein carbonyl groups in the serum of patients affected by thalassemia major by Trombetta, Domenico, Gangemi, Sebastiano, Saija, Antonella, Minciullo, Paola Lucia, Cimino, Francesco, Cristani, Mariateresa, Briuglia, Silvana, Piraino, Basilia, Isola, Stefania, Salpietro, Carmelo Damiano

“…High oxidative stress status is known to be one of the most important factors determining cell injury in thalassemic patients and causing other serious medical…”
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What Syndrome Is This? by Carmelo Salpietro, Damiano, Guarneri, Fabrizio, Rigoli, Luciana, Bruglia, Silvana, Guarneri, Claudio, Vaccaro, Mario

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What syndrome is this? Kabuki make-up syndrome by Salpietro, Damiano Carmelo, Guarneri, Fabrizio, Rigoli, Luciana, Bruglia, Silvana, Guarneri, Claudio, Vaccaro, Mario

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