Search Results - "SALPIETRO, Carmelo Damiano"
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Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion
Published in Pediatric surgery international (01-07-2018)“…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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2
Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease
Published in World journal of gastroenterology : WJG (28-07-2008)“…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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3
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
Published in Human mutation (01-06-2003)“…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
Published in The American journal of cardiology (15-10-2013)“…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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5
Correlation of s-IgA and IL-6 Salivary with Caries Disease and Oral Hygiene Parameters in Children
Published in Dentistry journal (27-12-2019)“…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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6
NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared
Published in Renal failure (01-05-2012)“…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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7
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia
Published in American journal of medical genetics. Part A (01-10-2009)“…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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8
Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children
Published in Allergy and asthma proceedings (01-11-2007)“…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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9
A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting
Published in European journal of pediatrics (01-10-2003)Get full text
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10
Disomy of distal Xq in males: Case report and overview
Published in American journal of medical genetics. Part A (15-07-2004)“…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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11
Hallerman-Streiff syndrome: Patient with decreased GH and insulin-like growth factor-1
Published in American journal of medical genetics. Part A (01-03-2004)Get full text
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12
Pain in neonatal intensive care: role of melatonin as an analgesic antioxidant
Published in Journal of pineal research (01-04-2012)“…: 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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13
Early Identification of Cardiovascular Involvement in Patients With ?-Thalassemia Major
Published in The American journal of cardiology (15-10-2013)“…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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14
Oxidative stress and persistent pulmonary hypertension of the newborn treated with inhaled nitric oxide and different oxygen concentrations
Published in The journal of maternal-fetal & neonatal medicine (01-09-2012)“…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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15
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
Published in International journal of cardiology (03-12-2010)“…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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16
Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation
Published in American journal of human genetics (01-09-2003)“…Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a…”
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17
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies
Published in Pediatric research (01-12-2004)“…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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18
Increased protein carbonyl groups in the serum of patients affected by thalassemia major
Published in Annals of hematology (01-08-2006)“…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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19
What Syndrome Is This?
Published in Pediatric dermatology (01-05-2007)Get full text
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20
What syndrome is this? Kabuki make-up syndrome
Published in Pediatric dermatology (01-05-2007)Get full text
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