47 results on '"Anna Di Sessa"'
Search Results
2. PNPLA3 I148M Polymorphism Influences Renal Function in Children With Obesity and Prediabetes
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Anna Di Sessa, Maria Cecilia Russo, Maria Rosaria Arienzo, Giuseppina Rosaria Umano, Domenico Cozzolino, Grazia Cirillo, Stefano Guarino, Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Di Sessa, Anna, Russo, Maria Cecilia, Arienzo, Maria Rosaria, Umano, Giuseppina Rosaria, Cozzolino, Domenico, Cirillo, Grazia, Guarino, Stefano, Miraglia Del Giudice, Emanuele, and Marzuillo, Pierluigi more...
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Nutrition and Dietetics ,Membrane Proteins ,Medicine (miscellaneous) ,prediabetes ,Lipase ,Kidney ,Prediabetic State ,children ,Non-alcoholic Fatty Liver Disease ,Nephrology ,Humans ,Obesity ,Child ,PNPLA3 - Abstract
Objective: Non-alcoholic fatty liver disease (NAFLD) negatively impacts on renal function with the contribution of the I148M variant in the patatin like phospholipase containing domain 3 (PNPLA3) gene. We hypothesized that children with prediabetes present with lower estimated glomerular filtration rate (eGFR) than those with normal glucose tolerance (NGT) and that the 148M PNPLA3 allele could play a worsening role. We aimed evaluating the influence of the I148M PNPLA3 polymorphism on the relationship between eGFR and prediabetes in children with obesity. Methods: One thousand thirty-six children underwent to complete assessment and were genotyped for the I148M PNPLA3 polymorphism. Results: Patients with prediabetes showed lower eGFR levels (171.03±40.32 vs. 190.80±41.71ml/min/1.73 m2; p=0.001) and higher prevalence of NAFLD (80% vs. 59%; p=0.003) than those with NGT. Children with prediabetes showed lower eGFR levels than those with NGT (150.97±14.56 vs 192.88±40.09; p more...
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- 2022
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Catalog
3. Metabolic-associated fatty liver disease from childhood to adulthood: State of art and future directions
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Francesca Lanzaro, Stefano Guarino, Elisabetta D'Addio, Alessandra Salvatori, Josè Alberto D'Anna, Pierluigi Marzuillo, Emanuele Miraglia del Giudice, Anna Di Sessa, Lanzaro, Francesca, Guarino, Stefano, D'Addio, Elisabetta, Salvatori, Alessandra, D'Anna, Josè Alberto, Marzuillo, Pierluigi, Miraglia Del Giudice, Emanuele, and Di Sessa, Anna more...
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Adult ,Risk ,dysfunction ,Fatty ,Liver ,Hepatology ,Metabolic ,Cardiovascular ,Children ,Pathophysiology - Abstract
In 2020, an international group of experts proposed to replace the term of nonalcoholic fatty liver disease with metabolic-associated fatty liver disease (MAFLD). This recent proposal reflects the close association of fatty liver with metabolic derangements, as demonstrated by previous robust data. Several factors [including genetics, inflammation, metabolic abnormalities, insulin resistance (IR), obesity, prenatal determinants, and gut-liver axis] have been found to be involved in MAFLD pathophysiology, but this tangled puzzle remains to be clearly understood. In particular, IR has been recognized as a key player in metabolic impairments development in children with fatty liver. On this ground, MAFLD definition focuses on the pathophysiological basis of the disease, by emphasizing the crucial role of metabolic impairments in this condition. Although primarily developed for adults, MAFLD diagnostic criteria have been recently updated with an age-appropriate definition for sex and age percentiles, because of the increasing attention to cardiometabolic risk in childhood. To date, accumulating evidence is available on the feasibility of MAFLD definition in clinical practice, but some data are still conflicting in highly selected populations. Considering the growing prevalence worldwide of fatty liver and its close relationship with metabolic dysfunction both in children and adults with subsequent increased cardiovascular risk, early strategies for MAFLD identification, treatment and prevention are needed. Novel therapeutic insights for MAFLD based on promising innovative biological techniques are also emerging. We aimed to summarize the most recent evidence in this intriguing research area both in children and adults. more...
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- 2022
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4. Foreign Body Aspiration in Children—Diagnostic Clues through a Clinical Case
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Elisabetta D’Addio, Pier Luigi Palma, Anna Di Sessa, Stefano Guarino, Pierluigi Marzuillo, Andrea Apicella, D'Addio, E., Palma, P. L., Di Sessa, A., Guarino, S., Marzuillo, P., and Apicella, A.
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Clinical presentation ,Foreign body aspiration ,Children ,Pediatrics - Abstract
Foreign body aspiration is common in the pediatric age group, especially in males. Despite the high frequency of this potentially life-threatening event, it is not always easy to recognize it given the high variability of the clinical presentation and the potential of “pauci-symptomatic” inhalation. Moreover, a variable latency of the onset of symptoms since the moment of aspiration may be possible determining difficulties in the identification of the inhalation on an anamnestic basis. We describe the case of a 19-month-old boy who accessed the emergency room initially for a head trauma. The clinical evaluation, however, revealed an unexplained serious respiratory distress needing tracheal intubation. After our evaluation, we hypothesized that the severe respiratory distress determined an altered state of consciousness with following head trauma. The radiological findings raised the suspicion of foreign body aspiration for the presence of an atelectasis of the entire left lung. The computed tomography showed an abrupt interruption of the main bronchus at 12 mm from the hull. The following bronchoscopy identified an almond of 2 cm. We will review the literature to underline the diagnostic issues behind foreign body aspiration in children by highlighting the diagnostic clues that are helpful for emergency clinicians in the management of this condition. more...
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- 2022
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5. Diagnostic Clues in Pediatric Nutcracker Syndrome: From Two Clinical Cases to Current Literature Analysis
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Speranza Cioffi, Federica Di Domenico, Giuseppina Russo, Angelica De Nigris, Stefano Guarino, Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Anna Di Sessa, Cioffi, Speranza, Di Domenico, Federica, Russo, Giuseppina, De Nigris, Angelica, Guarino, Stefano, Miraglia Del Giudice, Emanuele, Marzuillo, Pierluigi, and Di Sessa, Anna more...
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diagnosi ,children ,nutcracker ,treatment ,left ,vein ,Pediatrics, Perinatology and Child Health ,renal ,syndrome ,compression - Abstract
Nutcracker syndrome (NCS) is a rare pediatric disease caused by left kidney vein compression. Besides the “Triade’s symptoms”, including hematuria, proteinuria, and flank pain, a wide spectrum of clinical manifestations has been reported. As the significant hemodynamic changes secondary to the dilatation of the left renal vein, serious consequences such as renal vein thrombosis and severe anemia might occur in these children. NCS diagnosis includes a variety of invasive and non-invasive imaging tools, but cutoff values need to be further validated. A conservative treatment represents the most common therapeutic approach for these patients, but operative options are available in selected cases. To complicate matters, a standard diagnostic and treatment algorithm is currently lacking and scientific pediatric evidence in this field is still poor and limited. In this perspective, early recognition of NCS is crucial but challenging for pediatricians. Therefore, a better knowledge of the disease is recommended. Starting from two different clinical presentations of NCS, we aimed to provide a comprehensive overview of the disease in children. more...
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- 2022
6. The Importance of a Healthy Lifestyle in Patients with Congenital Anomalies of Kidney and Urinary Tract
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Stefano, Guarino, Eleonora, Palladino, and Anna, Di Sessa
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- 2022
7. Congenital Solitary Kidney from Birth to Adulthood
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Daniela Capalbo, Salvatore Cappabianca, Pier Francesco Rambaldi, Angela La Manna, Stefano Guarino, Tiziana Esposito, Emanuele Miraglia del Giudice, Giovanna Vacca, Alfonso Reginelli, Carla De Luca Picione, Grazia Cirillo, Maria Rosaria Arienzo, Anna Di Sessa, Cesare Polito, Pierluigi Marzuillo, Marzuillo, Pierluigi, Guarino, Stefano, Di Sessa, Anna, Rambaldi, Pier Francesco, Reginelli, Alfonso, Vacca, Giovanna, Cappabianca, Salvatore, Capalbo, Daniela, Esposito, Tiziana, De Luca Picione, Carla, Arienzo, Maria Rosaria, Cirillo, Grazia, La Manna, Angela, Miraglia del Giudice, Emanuele, and Polito, Cesare more...
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Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Solitary Functioning Kidney ,Urology ,Solitary kidney ,030232 urology & nephrology ,Cohort Studies ,Solitary Kidney ,Young Adult ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Prenatal Diagnosis ,medicine ,Humans ,Child ,Kidney ,urogenital system ,business.industry ,Infant, Newborn ,Infant ,Congenital Solitary Kidney ,medicine.anatomical_structure ,chemistry ,Child, Preschool ,Uric acid ,Female ,business ,Follow-Up Studies - Abstract
To evaluate the course of prenatally diagnosed and early-enrolled congenital solitary functioning kidney patients followed until adulthood and to identify risk factors for kidney injury.Among all congenital solitary functioning kidney patients followed (1993-2018), we recalled 56 patients with prenatal diagnosis and congenital solitary functioning kidney confirmation at 1-3 months of life reaching at least 18 years of age. Serum uric acid, heavy smoking (≥25 cigarettes/day) and overweight/obesity were clustered as modifiable risk factors. Kidney injury was defined by estimated glomerular filtration rate90 ml/minute/1.73 mThe mean followup period was 21.1 years (range 18-33 years). Mild kidney injury was found in 15 out of 56 patients (26.8%). The mean age at proteinuria, reduced estimated glomerular filtration rate and hypertension onset was 19.7 years (1.2 SDS), 20.7 years (2.7 SDS), and 22 years (5.6 SDS), respectively. Patients with CAKUT of congenital solitary functioning kidney and with both CAKUT of congenital solitary functioning kidney and modifiable risk factors presented survival free from kidney injury of 0% at 22.2 and 24.2 years of age, respectively. Patients with modifiable risk factors presented 42.4% of survival at 30 years. Patients without CAKUT of congenital solitary functioning kidney nor modifiable risk factors presented 100% of survival at 30 years of age (p=0.002). The presence of CAKUT of congenital solitary functioning kidney was the only significant risk factor (HR 4.9; 95% CI 1.8-14.2; p=0.003).The outcomes of congenital solitary functioning kidney in early adulthood appear better than previously reported. Prompt diagnosis of congenital solitary functioning kidney, healthy lifestyle promotion and monitoring of serum uric acid may improve the prognosis of congenital solitary functioning kidney patients. more...
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- 2021
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8. Acute Kidney Injury and Renal Tubular Damage in Children With Type 1 Diabetes Mellitus Onset
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Paolo Montaldo, Angela Zanfardino, Tiziana Esposito, Pierluigi Marzuillo, Daniela Capalbo, Stefano Guarino, Maria Rosaria Arienzo, Emanuele Miraglia del Giudice, Carla De Luca Picione, Grazia Cirillo, Francesca Casaburo, Alessia Piscopo, Maria Ventre, Anna Di Sessa, Dario Iafusco, Marzuillo, Pierluigi, Iafusco, Dario, Zanfardino, Angela, Guarino, Stefano, Piscopo, Alessia, Casaburo, Francesca, Capalbo, Daniela, Ventre, Maria, Arienzo, Maria Rosaria, Cirillo, Grazia, Picione, Carla De Luca, Esposito, Tiziana, Montaldo, Paolo, Di Sessa, Anna, and Miraglia Del Giudice, Emanuele more...
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Male ,medicine.medical_specialty ,Diabetic ketoacidosis ,Endocrinology, Diabetes and Metabolism ,Urinary system ,Clinical Biochemistry ,Context (language use) ,Biochemistry ,Gastroenterology ,Diabetic Ketoacidosis ,Phosphates ,Endocrinology ,Lipocalin-2 ,children ,Internal medicine ,Prevalence ,medicine ,Humans ,Prospective Studies ,Child ,Prospective cohort study ,Acute tubular necrosis ,Type 1 diabetes ,business.industry ,Biochemistry (medical) ,diabetic ketoacidosi ,Acute kidney injury ,acute tubular necrosi ,Recovery of Function ,medicine.disease ,Diabetes Mellitus, Type 1 ,Kidney Tubules ,acute kidney injury ,Female ,beta 2-Microglobulin ,business ,type 1 diabetes mellitus ,Kidney disease - Abstract
Context Acute kidney injury (AKI) and renal tubular damage (RTD), especially if complicated by acute tubular necrosis (ATN), could increase the risk of later chronic kidney disease. No prospective studies on AKI and RTD in children with type1diabetes mellitus (T1DM) onset are available. Objectives To evaluate the AKI and RTD prevalence and their rate and timing of recovery in children with T1DM onset. Design Prospective study. Settings and patients 185 children were followed up after 14 days from T1DM onset. The patients who did not recover from AKI/RTD were followed-up 30 and 60 days later. Main outcome measures AKI was defined according to the KDIGO criteria. RTD was defined by abnormal urinary beta-2-microglobulin and/or neutrophil gelatinase-associated lipocalin and/or tubular reabsorption of phosphate 2%. ATN was defined by RTD+AKI, prerenal (P)-AKI by AKI+FENa Results Prevalence of diabetic ketoacidosis (DKA) and AKI were 51.4% and 43.8%, respectively. Prevalence of AKI in T1DM patients with and without DKA was 65.2% and 21.1%, respectively; 33.3% reached AKI stage 2, and 66.7% of patients reached AKI stage 1. RTD was evident in 136/185 (73.5%) patients (32.4% showed ATN; 11.4%, P-AKI; 29.7%, ATD). All patients with DKA or AKI presented with RTD. The physiological and biochemical parameters of AKI and RTD were normal again in all patients. The former within 14 days and the latter within 2months. Conclusions Most patients with T1DM onset may develop AKI and/or RTD, especially if presenting with DKA. Over time the physiological and biochemical parameters of AKI/RTD normalize in all patients. more...
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- 2021
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9. Tangled relationship between insulin resistance and microalbuminuria in children with obesity
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Alberto Maria Colasante, Mario Bartiromo, Michele Nardolillo, Stefano Guarino, Pierluigi Marzuillo, Giuseppe Salvatore R C Mangoni di S Stefano, Emanuele Miraglia del Giudice, Anna Di Sessa, Colasante, Alberto Maria, Bartiromo, Mario, Nardolillo, Michele, Guarino, Stefano, Marzuillo, Pierluigi, Mangoni di S Stefano, Giuseppe Salvatore R C, Miraglia Del Giudice, Emanuele, and Di Sessa, Anna more...
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Pediatrics, Perinatology and Child Health ,Insulin resistance ,Obesity ,Kidney damage ,Children ,Microalbuminuria - Abstract
Childhood obesity represents a complex disease with a well-known cardiometabolic burden including fatty liver, type 2 diabetes, metabolic syndrome, and cardiovascular disease. From a pathogenic point of view, insulin resistance (IR) represents the key factor underlying the spectrum of these obesity consequences. As observed in adults, recent data supported the occurrence of microalbuminuria (MA) as marker of early kidney dysfunction and its potential link with cardiometabolic factors also in children with obesity. In fact, a well-documented pathophysiological hypothesis both in adults and children supported an intimate correlation with the major feature of obesity such as IR through the influence of insulin on renal hemodynamics. Based on the clinical and prognostic relevance of this relationship in daily practice (including an increased risk of chronic kidney disease development overtime), more scientific attention needs to be paid to the evaluation of early kidney damage in children with obesity. In this paper, we attempt to address three debated questions regarding the intriguing liaison between IR and MA in children with obesity: (1) What is the prevalence of pediatric MA? (2) What is the state of art of MA in children with obesity? and (3) Is there a link between IR and MA in children with obesity? more...
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- 2022
10. Pediatric Sleep Questionnaire Predicts Moderate-to-Severe Obstructive Sleep Apnea in Children and Adolescents with Obesity
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Giuseppina Rosaria Umano, Giulia Rondinelli, Margherita Luciano, Alessandro Pennarella, Francesca Aiello, Giuseppe Salvatore R. C. Mangoni di Santo Stefano, Anna Di Sessa, Pierluigi Marzuillo, Alfonso Papparella, Emanuele Miraglia del Giudice, Umano, Giuseppina Rosaria, Rondinelli, Giulia, Luciano, Margherita, Pennarella, Alessandro, Aiello, Francesca, Mangoni di Santo Stefano, Giuseppe Salvatore R C, Di Sessa, Anna, Marzuillo, Pierluigi, Papparella, Alfonso, and Miraglia Del Giudice, Emanuele more...
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OSA ,pediatric sleep questionnaire ,obesity ,children and adolescents ,screening ,Pediatrics, Perinatology and Child Health ,children and adolescent - Abstract
Pediatric obesity is associated with an increased risk of morbidity during childhood. Alongside the well-known metabolic syndrome, during the last decades scientific research has deeply investigated the risk of sleep breathing disorders. Among them, obstructive sleep apnea (OSA) commonly affects children with obesity. The presence of OSA heightens the risk of metabolic impairment and weight gain. Therefore, it deserves specific treatment. However, polysomnography (PSG) is not always available in clinical settings, and alternative diagnostic tools are needed. This study aimed to investigate the predictivity of the pediatric sleep questionnaire (PSQ) for moderate-to-severe OSA diagnosis. Children and adolescents with obesity and suspected OSA with available full-night cardiorespiratory PSG were retrospectively enrolled. Receiver operating curve analysis was performed to test the ability of PSQ in predicting moderate-to-severe OSA (AHI > 5 episode/h). The final sample included 60 children and adolescents. The PSQ showed a good area under the curve (AUC) of 0.88 (95% CI 0.78–0.98, p < 0.0001). Moreover, a value above or equal to 0.65 showed an 80% sensitivity and 100% specificity for moderate and severe OSA. These findings suggest that PSQ might be used in clinical settings with limited access to PSG for stratifying disease severity and for selecting children with urgent need of sleep study. more...
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- 2022
11. A new formula to improve the screening of impaired glucose tolerance in youths with overweight or obesity
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Procolo Di Bonito, Maria Rosaria Licenziati, Domenico Corica, Malgorzata Gabriela Wasniewska, Anna Di Sessa, Emanuele Miraglia del Giudice, Anita Morandi, Claudio Maffeis, Maria Felicia Faienza, Enza Mozzillo, Valeria Calcaterra, Giulio Maltoni, Francesca Franco, Giuliana Valerio, Di Bonito, P., Licenziati, M. R., Corica, D., Wasniewska, M. G., Di Sessa, A., Miraglia del Giudice, E., Morandi, A., Maffeis, C., Faienza, M. F., Mozzillo, E., Calcaterra, V., Maltoni, G., Franco, F., Valerio, G., Di Bonito, Procolo, Licenziati, Maria Rosaria, Corica, Domenico, Wasniewska, Malgorzata Gabriela, Di Sessa, Anna, Miraglia Del Giudice, Emanuele, Morandi, Anita, Maffeis, Claudio, Faienza, Maria Felicia, Mozzillo, Enza, Calcaterra, Valeria, Maltoni, Giulio, Franco, Francesca, and Valerio, Giuliana more...
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Male ,Nutrition and Dietetics ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Medicine (miscellaneous) ,Impaired glucose tolerance ,Pediatric obesity ,Overweight ,Cross-Sectional Studies ,Glucose ,Diabetes Mellitus, Type 2 ,Prediabetes ,Screening ,Prediabete ,Glucose Intolerance ,Humans ,Female ,Obesity ,Cardiology and Cardiovascular Medicine - Abstract
Aim: To assess a new formula to improve the screening of isolated impaired glucose tolerance (IGT) in youth with overweight/obesity (OW/OB). Methods and results: A cross-sectional study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom impaired fasting glucose and high glycosylated hemoglobin were excluded. The sample was divided into training set (TS) (n=883) and validation set (VS) (n=306). Fasting (FG) and post-load plasma glucose, alanine aminotransferase (ALT), lipids and familial history for type 2 diabetes (FD) were available in all individuals. In the TS youths with IGT (n=58, 7.0%) showed higher prevalence of female sex (FS), FD, and higher levels of FG, post-load glucose, ALT and lower levels of HDL-cholesterol vs individuals without IGT. The linear formula was obtained by logistic regression analysis in the TS: 0.05∗ALT + 0.07∗FG + 0.87∗FD + (0.06∗HDL∗ - 1) + 1∗FS. The best cut-off was 5.84. The performance of the formula vs IGT was: sensitivity: 0.74 and specificity: 0.71. Similar results were obtained in the VS. Conclusions: Using metabolic and anamnestic data we obtained a simple formula with a good performance for screening isolated IGT. This formula may support pediatricians to identify youths with OW/OB in whom the OGTT may be useful for detecting IGT. more...
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- 2022
12. Pediatric obesity-related non-alcoholic fatty liver disease: waist-to-height ratio best anthropometrical predictor
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Domenico Cozzolino, Anna Di Sessa, Marcella Pedullà, Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Giuseppina Rosaria Umano, Anna Grandone, Umano, Giuseppina R, Grandone, Anna, Di Sessa, Anna, Cozzolino, Domenico, Pedullà, Marcella, Marzuillo, Pierluigi, and Del Giudice, Emanuele Miraglia more...
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Male ,Pediatric Obesity ,medicine.medical_specialty ,Adolescent ,Disease ,Body Mass Index ,Liver disorder ,03 medical and health sciences ,0302 clinical medicine ,Non-alcoholic Fatty Liver Disease ,Risk Factors ,030225 pediatrics ,Internal medicine ,medicine ,Humans ,Mass index ,Child ,Retrospective Studies ,Waist-to-height ratio ,Waist-Height Ratio ,Anthropometry ,business.industry ,Fatty liver ,nutritional and metabolic diseases ,Non alcoholic ,medicine.disease ,Obesity ,Pediatrics, Perinatology and Child Health ,Female ,business ,030217 neurology & neurosurgery - Abstract
BACKGROUND Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disorder in pediatric obesity. Our study aims to identify a predictive anthropometrical measure for NAFLD in obese children. METHODS We retrospectively enrolled children and adolescents with obesity. Physical, biochemical, and ultrasound assessments were available. ROC curve tests were performed to identify the best predictor of NAFLD among waist-to-height ratio (WHR), BMI z-score, and triponderal mass index (TMI, an anthropometric index recently associated with increased adiposity in children). Subsequently, a cut-off value was identified. RESULTS In total, 1900 children and adolescents (1011 with NAFLD) were included. WHR (AUC 0.62, 95% CI 0.59-0.64) was the best predictor of NAFLD compared to BMI z-score (AUC 0.58, 95% CI 0.55-0.60) and TMI (AUC 0.58, 95% CI 0.55-0.61). WHR ≥ 0.53 in boys and 0.63 in girls displayed the best sensitivity and specificity for NAFLD presence. In addition, children with high WHR showed a significantly higher risk of NAFLD (boys: OR 2.43, 95% CI 1.61-3.68, p more...
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- 2020
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13. Elevated blood pressure, cardiometabolic risk and target organ damage in youth with overweight and obesity
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Claudia Forziato, Lucia Pacifico, Anita Morandi, Melania Manco, Giuseppina Campana, Claudio Maffeis, Emanuele Miraglia del Giudice, Giuliana Valerio, Giovanni de Simone, Claudio Chiesa, Sandro Loche, Marco Giorgio Baroni, Maria Rosaria Licenziati, Luisa Gilardini, Nicola Moio, Gianluca Tornese, Procolo Di Bonito, Anna Di Sessa, Di Bonito, P., Pacifico, L., Licenziati, M. R., Maffeis, C., Morandi, A., Manco, M., del Giudice, E. M., Di Sessa, A., Campana, G., Moio, N., Baroni, M. G., Chiesa, C., De Simone, G., Valerio, G., Forziato, C., Gilardini, L., Loche, S., and Tornese, G. more...
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Carotid Artery Diseases ,Male ,Pediatric Obesity ,Cross-sectional study ,Endocrinology, Diabetes and Metabolism ,Left ventricular ma ,Liver steatosis ,Medicine (miscellaneous) ,Blood Pressure ,030204 cardiovascular system & hematology ,Overweight ,Adolescents ,Body Mass Index ,Left ventricular mass ,Prehypertension ,0302 clinical medicine ,Non-alcoholic Fatty Liver Disease ,Risk Factors ,Carotid intima media thickness ,Prevalence ,Child ,Children ,Carotid intima media thickne ,education.field_of_study ,Nutrition and Dietetics ,Age Factors ,Left Ventricular ,Italy ,Cardiovascular Diseases ,Child, Preschool ,Liver steatosi ,Elevated blood pressure ,Obesity ,Adolescent ,Cross-Sectional Studies ,Female ,Humans ,Hypertrophy, Left Ventricular ,Insulin Resistance ,Risk Assessment ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,medicine.medical_specialty ,Population ,030209 endocrinology & metabolism ,03 medical and health sciences ,Insulin resistance ,Internal medicine ,medicine ,Preschool ,education ,business.industry ,Hypertrophy ,medicine.disease ,Blood pressure ,business ,Body mass index - Abstract
Background and aim: To compare cardiometabolic risk profile and preclinical signs of target organ damage in youth with normal and elevated blood pressure (BP), according to the American Academy of Pediatrics (AAP) guidelines. Methods and results: This cross-sectional multicenter study included 2739 youth (5-17 year-old; 170 normal-weight, 610 overweight and 1959 with obesity) defined non hypertensive by the AAP guidelines. Anthropometric, biochemical and liver ultrasound data were available in the whole population; carotid artery ultrasound and echocardiographic assessments were available respectively in 427 and 264 youth. Elevated BP was defined as BP >= 90th to = 120/80 to more...
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- 2020
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14. Effect of Body Mass Index on Estimated Glomerular Filtration Rate Levels in Children With Congenital Solitary Kidney: A Cross-Sectional Multicenter Study
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Emanuele Miraglia del Giudice, Daniela Capalbo, Laura Liguori, Giuseppina Campana, Chiara De Mutiis, Andrea Pasini, Claudio La Scola, Pierluigi Marzuillo, Angela La Manna, Andrea Pession, Francesca Mencarelli, Anna Di Sessa, Cristina Bertulli, Stefano Guarino, La Scola, C., Guarino, S., Pasini, A., Capalbo, D., Liguori, L., Di Sessa, A., Bertulli, C., Mencarelli, F., De Mutiis, C., Campana, G., La Manna, A., Miraglia del Giudice, E., Pession, A., and Marzuillo, P. more...
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0301 basic medicine ,medicine.medical_specialty ,Birth weight ,Population ,030232 urology & nephrology ,Medicine (miscellaneous) ,Renal function ,Overweight ,Body Mass Index ,Solitary Kidney ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Humans ,Obesity ,Child ,education ,education.field_of_study ,030109 nutrition & dietetics ,Nutrition and Dietetics ,business.industry ,medicine.disease ,Cross-Sectional Studies ,Blood pressure ,Nephrology ,medicine.symptom ,Underweight ,business ,Body mass index ,Glomerular Filtration Rate - Abstract
Rationale & Objective: The objective of this study is to evaluate the effect of body mass index (BMI) on estimated glomerular filtration rate (eGFR) levels in children with congenital solitary kidney (CSK). Moreover, we evaluated if other factors could influence this relationship. Study Design: Multicenter cross-sectional study. Setting & Participants: University hospital pediatrics departments. Subjects: Two hundred eighty-one patients with CSK. Predictors: Weight, height, BMI-SDS (standard deviation score), duration of overweight/obesity, pubertal stage, systolic (SBP) and diastolic (DBP) blood pressure, eGFR, and renal ultrasound were obtained at the last follow-up visit. The population was classified on the basis of nutritional status and divided in tertiles for duration of overweight/obesity. We compared eGFR levels among these categories. A simple regression was used to correlate eGFR with BMI-SDS. To evaluate if other factors could influence the relationship between eGFR and BMI-SDS, a general linear model was performed, including gender, birth weight more...
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- 2020
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15. Diagnostic Performance of Height-Estimated Baseline Creatinine in Diagnosing Acute Kidney Injury in Children with Type 1 Diabetes Mellitus Onset
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Stefano Guarino, Giulio Rivetti, Anna Di Sessa, Maeva De Lucia, Pier Luigi Palma, Emanuele Miraglia del Giudice, Cesare Polito, Pierluigi Marzuillo, Guarino, Stefano, Rivetti, Giulio, Di Sessa, Anna, De Lucia, Maeva, Palma, Pier Luigi, Miraglia Del Giudice, Emanuele, Polito, Cesare, and Marzuillo, Pierluigi more...
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pediatric acute kidney injury ,diagnostic performance ,Pediatrics, Perinatology and Child Health ,creatinine ,type 1 diabetes mellitus - Abstract
At type 1 diabetes mellitus (T1DM) onset, acute kidney injury (AKI) is very common. To diagnose AKI, the availability of a baseline serum creatinine (bSCr) is pivotal. However, in most hospitalized children the bSCr is unknown. We aimed to test whether the bSCr estimated on the basis of height (ebSCr) could be a reliable surrogate for AKI diagnosis compared with the measured bSCr (mbSCr). As the mbSCr, we considered the creatinine measured 14 days after T1DM onset while ebSCr (mg/dL) = (k × height [cm])/120 mL/min/1.73 m2, where k = 0.55 for children and adolescent girls and k = 0.7 for adolescent boys. AKI was defined as serum creatinine values >1.5 times the baseline creatinine. Kappa statistics and the percentage of agreement in AKI classification by ebSCr–AKI versus mbSCr–AKI definition methods were calculated. Bland–Altman plots were used to show the agreement between the creatinine ratio (highest/baseline creatinine; HC/BC) calculated with mbSCr and ebSCr. The number of 163 patients with T1DM onset were included. On the basis of mbSCr, 66/163 (40.5%) presented AKI while, on the basis of ebSCr, 50/163 (30.7%) accomplished AKI definition. ebSCr showed good correlation with mbSCr using both the Spearman test (rho = 0.67; p < 0.001) and regression analysis (r = 0.68; p < 0.001). Moreover, at the Bland–Altman plots, the bias of the highest/baseline creatinine ratio calculated on the basis of the mbSCr compared to ebSCr was minimal (bias = −0.08 mg/dL; 95% limits of agreement = −0.23/0.39). AKI determined using ebSCr showed 90% agreement with AKI determined using mbSCr (kappa = 0.66; p < 0.001). Finally, we compared the area under a receiver–operating characteristic curve (AUROC) of HC/BC ratio calculated on the basis of ebSCr with AUROC of the gold standard HC/BC ratio calculated on the basis of mbSCr. As expected, the gold standard had an AUROC = 1.00 with a 95% confidence interval (CI) between 0.98 and 1.00, p < 0.001. The HC/BC ratio calculated on the basis of ebSCr also had significant AUROC (AUROC = 0.94; 95% CI: 0.90–0.97; p < 0.001). The comparison of the two ROC curves showed a p < 0.001. In conclusion, when mbSCr is unknown in patients with T1DM onset, the ebSCr calculated on the basis of height could be an alternative to orientate clinicians toward AKI diagnosis. more...
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- 2022
16. Pediatric Diabetic Nephropathy: Novel Insights from microRNAs
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Francesca Lanzaro, Annalisa Barlabà, Angelica De Nigris, Federica Di Domenico, Valentina Verde, Emanuele Miraglia del Giudice, and Anna Di Sessa
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General Medicine - Abstract
Diabetic nephropathy (DN) represents the most common microvascular complication in patients with diabetes. This progressive kidney disease has been recognized as the major cause of end-stage renal disease with higher morbidity and mortality. However, its tangled pathophysiology is still not fully known. Due to the serious health burden of DN, novel potential biomarkers have been proposed to improve early identification of the disease. In this complex landscape, several lines of evidence supported a critical role of microRNAs (miRNAs) in regulating posttranscriptional levels of protein-coding genes involved in DN pathophysiology. Indeed, intriguing data showed that deregulation of certain miRNAs (e.g., miRNAs 21, -25, -92, -210, -126, -216, and -377) were pathogenically linked to the onset and the progression of DN, suggesting not only a role as early biomarkers but also as potential therapeutic targets. To date, these regulatory biomolecules represent the most promising diagnostic and therapeutic options for DN in adult patients, while similar pediatric evidence is still limited. More, findings from these elegant studies, although promising, need to be deeper investigated in larger validation studies. In an attempt to provide a comprehensive pediatric overview in the field, we aimed to summarize the most recent evidence on the emerging role of miRNAs in pediatric DN pathophysiology. more...
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- 2023
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17. Is Metabolic Syndrome Useful for Identifying Youths with Obesity at Risk for NAFLD?
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Procolo Di Bonito, Anna Di Sessa, Maria Rosaria Licenziati, Domenico Corica, Malgorzata Wasniewska, Giuseppina Rosaria Umano, Anita Morandi, Claudio Maffeis, Maria Felicia Faienza, Enza Mozzillo, Valeria Calcaterra, Francesca Franco, Giulio Maltoni, Giuliana Valerio, Di Bonito, P., Di Sessa, A., Licenziati, M. R., Corica, D., Wasniewska, M., Umano, G. R., Morandi, A., Maffeis, C., Faienza, M. F., Mozzillo, E., Calcaterra, V., Franco, F., Maltoni, G., and Valerio, G. more...
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abdominal obesity ,insulin-resistance ,metabolic syndrome ,non-alcoholic fatty liver disease ,pediatric obesity ,Pediatrics, Perinatology and Child Health - Abstract
The definition of metabolic syndrome (MetS) in childhood is controversial. Recently, a modified version of the International Diabetes Federation (IDF) definition was proposed using reference data from an international population for high waist circumference (WC) and blood pressure (BP), while the fixed cutoffs for lipids and glucose were not changed. We analyzed MetS prevalence using this modified definition (MetS-IDFm) and its association with non-alcoholic fatty liver disease (NAFLD) in 1057 youths (age 6–17 years) with overweight/obesity (OW/OB). A comparison with another modified definition of MetS according to the Adult Treatment Panel III (MetS-ATPIIIm) was performed. The prevalence of MetS-IDFm was 27.8% and 28.9% by MetS-ATPIIIm. The Odds (95% Confidence Intervals) of NAFLD was 2.70 (1.30–5.60) (p = 0.008) for high WC, 1.68 (1.25–2.26)(p = 0.001) for MetS, 1.54 (1.12–2.11)(p = 0.007) for low HDL-Cholesterol, 1.49 (1.04–2.13)(p = 0.032) for high triglycerides and 1.37 (1.03–1.82)(p = 0.033) for high BP. No substantial difference was found in the prevalence of MetS-IDFm and frequency of NAFLD compared to Mets-ATPIIIm definition. Our data demonstrate that one third of youths with OW/OB have MetS, whichever was the criterion. Neither definition was superior to some of their components in identifying youths with OW/OB at risk for NAFLD. more...
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- 2023
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18. Heart rate cut-offs to identify non-febrile children with dehydration and acute kidney injury
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Pierluigi Marzuillo, Anna Di Sessa, Dario Iafusco, Daniela Capalbo, Cesare Polito, Felice Nunziata, Emanuele Miraglia del Giudice, Paolo Montaldo, Stefano Guarino, Marzuillo, P., Di Sessa, A., Iafusco, D., Capalbo, D., Polito, C., Nunziata, F., Miraglia del Giudice, E., Montaldo, P., and Guarino, S. more...
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Male ,Dehydration ,Heart Rate ,Pediatrics, Perinatology and Child Health ,Humans ,Female ,Prospective Studies ,Acute Kidney Injury ,Child ,Children ,Biomarkers ,Retrospective Studies - Abstract
We hypothesized that the heart rate (HR) variation in an acute setting compared with HR in wellbeing status could be a good marker of both dehydration and acute kidney injury (AKI). Since HR in wellbeing status is unknown in most cases, we assumed as reliable surrogate the 50th percentile of HR according to age and gender. We evaluated if the estimated percentage of heart rate variation in acute setting compared with 50th percentile of HR (EHRV) could be marker of dehydration and AKI in children. Two independent cohorts, one prospective comprehending 185 children at type 1 diabetes mellitus onset (derivation) and one retrospective comprehending 151 children with acute gastroenteritis and pneumonia (validation), were used to develop and externally validate EHRV as predictor of the ≥ 5% dehydration and/or AKI composite outcome. Febrile patients were excluded. EHRV was calculated as ((HR at admission–50th percentile of HR)/HR at admission) × 100. The prevalences of ≥ 5% dehydration and AKI were 61.1% and 43.8% in the derivation and 34.4% and 24.5% in the validation cohort. For the ≥ 5% dehydration and/or AKI composite outcome, the area under receiver-operating characteristic curve of the EHRV in the derivation cohort was 0.69 (95%CI, 0.62–0.77; p 24.5%. In the validation cohort, EHRV > 24.5% showed specificity = 100% (95%CI, 96.2–100.0), positive predictive value = 100%, and negative predictive value = 67.1% (95%CI, 64.7–69.5). The positive likelihood ratio was infinity, and odds ratio was not calculable because all the patients with EHRV > 24.5% showed ≥ 5% dehydration and/or AKI. Conclusions: EHRV appears a rather reliable marker of dehydration and AKI. Further validations could allow implementing EHRV in the clinical practice. What is Known:• Increased heart rate (HR) is an easily and quickly detectable sign of dehydration in childhood, but its cut-off to suspect dehydration or acute kidney injury (AKI) is not defined. What is New:• We found that a percentage of estimated HR variation in acute setting in comparison with 50th percentile of HR (EHRV)>24.5% predicted ≥5% dehydration and/or AKI in non-febrile patients.• We provide a one-page tool to suspect ≥5% dehydration and/or AKI on the basis of the HR. If furtherly validated, this tool could be implemented in the daily clinical practice. more...
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- 2021
19. Pediatric non-alcoholic fatty liver disease: current perspectives on diagnosis and management
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Pierluigi Marzuillo, Emanuele Miraglia del Giudice, Grazia Cirillo, Anna Di Sessa, and Stefano Guarino
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Alternative methods ,medicine.medical_specialty ,business.industry ,Fatty liver ,nutritional and metabolic diseases ,Non alcoholic ,Disease ,Chronic liver disease ,medicine.disease ,digestive system ,Obesity ,digestive system diseases ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,medicine ,030212 general & internal medicine ,Metabolic syndrome ,Intensive care medicine ,business ,Dyslipidemia - Abstract
Non-alcoholic fatty liver disease (NAFLD) represents the most common cause of chronic liver disease in childhood. To date, the "multiple-hit" hypothesis is largely recognized as an explanation of NAFLD pathogenesis and progression. Obesity and features of the metabolic syndrome have been closely linked to NAFLD development. Due to the increased prevalence of obesity worldwide, NAFLD has reached epidemic proportions over time. Given its unfavorable cardiometabolic burden (such as cardiovascular and metabolic consequences), it represents a worrying phenomenon needing a more comprehensive and successful management. Laboratory tests and classical imaging techniques play a pivotal role in NAFLD diagnosis, but novel noninvasive alternative methods to diagnose and monitor NAFLD have been investigated. Currently, lifestyle modifications remain the mainstay treatment, although its efficacy is poor because of the lack of compliance. Pediatric research is focusing on multiple alternative treatments targeting the main pathogenic factors such as insulin-resistance, dyslipidemia, gut-liver axis and microbiota, oxidative stress, and proinflammatory pathways. Results from these studies are promising but larger validation is needed. Innovative therapeutic approaches might add an important piece in the complex knowledge of pediatric NAFLD. We aimed to summarize recent insights into NAFLD diagnosis and treatment in children, with a focus on possible future perspectives in pediatric research. more...
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- 2019
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20. Rituximab-induced IgG hypogammaglobulinemia in children with nephrotic syndrome and normal pre-treatment IgG values
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Tiziana Esposito, Pierluigi Marzuillo, Daniela Capalbo, Angela La Manna, Stefano Guarino, Emanuele Miraglia del Giudice, Anna Di Sessa, Sara Immacolata Orsini, Marzuillo, P., Guarino, S., Esposito, T., Di Sessa, A., Orsini, S. I., Capalbo, D., del Giudice, E. M., and La Manna, A. more...
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Pre treatment ,biology ,business.industry ,Nephrotic syndrome ,IgG hypogammaglobulinemia ,General Medicine ,medicine.disease ,Hypogammaglobulinemia ,immune system diseases ,hemic and lymphatic diseases ,Immunology ,Immunoglobulin ,biology.protein ,Retrospective Cohort Study ,Medicine ,Rituximab ,Antibody ,business ,medicine.drug - Abstract
BACKGROUND In paediatric patients with complicated nephrotic syndrome (NS), rituximab (RTX) administration can induce persistent IgG hypogammaglobulinemia among subjects showing low basal immunoglobulin G (IgG) levels. AIM To evaluate the effect of RTX on IgG levels and infections in patients with complicated NS and normal basal IgG levels. METHODS We consecutively enrolled all patients with complicated NS and normal basal IgG levels undergoing the first RTX infusion from January 2008 to January 2016. Basal IgG levels were dosed after 6 wk of absent proteinuria and with a maximal interval of 3 mo before RTX infusion. The primary outcome was the onset of IgG hypogammaglobulinemia during the follow-up according to the IgG normal values for age [mean ± standard deviation (SD)]. RESULTS We enrolled 20 patients with mean age at NS diagnosis of 4.2 ± 3.3 years. The mean age at the first RTX infusion was 10.9 ± 3.5 years. Eleven out of twenty patients (55%) developed IgG hypogammaglobulinemia. None of these patients showed severe or recurrent infections. Only one patient suffered from recurrent acute otitis media and underwent substitutive IgG infusion. Three patients undergoing only the two "starting doses" experienced normalization of IgG levels. Using Kaplan-Meier analysis, the cumulative proportion of patients free of IgG hypogammaglobulinemia was 57.8% after the first RTX dose, 51.5% after the third dose, 44.1% after the fourth dose, and 35.5% after the fifth dose. CONCLUSION RTX can induce IgG hypogammaglobulinemia in patients with pre-RTX IgG normal values. None of the treated patients showed severe infections. more...
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- 2019
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21. Diagnostic Performance of the Acute Kidney Injury Baseline Creatinine Equations in Children and Adolescents with Type 1 Diabetes Mellitus Onset
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Pier Luigi Palma, Stefano Guarino, Anna Di Sessa, Giulio Rivetti, Annalisa Barlabà, Federica Scaglione, Daniela Capalbo, Alfonso Papparella, Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Palma, Pier Luigi, Guarino, Stefano, Di Sessa, Anna, Rivetti, Giulio, Barlabà, Annalisa, Scaglione, Federica, Capalbo, Daniela, Papparella, Alfonso, Miraglia Del Giudice, Emanuele, Marzuillo, Pierluigi, Palma, Pl, Guarino, S, Di Sessa, A, Rivetti, G, Barlaba, A, Scaglione, F, Capalbo, D, Papparella, A, del Giudice, Em, and Marzuillo, P more...
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type 1 diabetes mellitu ,acute kidney injury ,type 1 diabetes mellitus ,creatinine ,estimation ,Clinical Biochemistry - Abstract
Three new equations for calculating the estimated basal serum creatinine (ebSCr) in hospitalized children have been developed: the simplified acute kidney injury (AKI) baseline creatinine (ABC) equation which considered only age in the formula; the equation including age and minimum creatinine (Crmin) within the initial 72 h from hospitalization (ABC-cr); and the equation including Crmin and height, weight, and age as squared values (ABC-advanced). We aimed to test the diagnostic performance of the ABC, ABC-cr and ABC-advanced equations in diagnosing AKI in 163 prospectively enrolled children with type 1 diabetes mellitus (T1DM) onset. We considered measured basal serum creatinine (mbSCr), the creatinine measured 14 days after T1DM onset. AKI was defined by the highest/basal serum creatine (HC/BC) ratio > 1.5. On the basis of the mbSCr, the AKI was diagnosed in 66/163 (40.5%) patients. This prevalence was lower than the prevalence of AKI diagnosed on the basis of ABC ebSCr (122/163 patients; 74.8%) (p < 0.001) and similar to the prevalence of AKI diagnosed on the basis of ABC-cr ebSCr (72/163 patients; 44.2%) (p = 0.5) and to the prevalence of AKI diagnosed on the basis of ABC-advanced ebSCr (69/163; 42.3%) (p = 0.73). AKI determined using ABC ebSCr, ABC-cr ebSCr and ABC-advanced ebSCr showed, respectively, 63.5% (kappa = 0.35; p < 0.001), 87.7% (kappa = 0.75; p < 0.001), and 87.1% (kappa = 0.74; p < 0.001) agreement with AKI determined using mbSCr. Using the HC/BC ratio calculated on the basis of mbSCr as gold standard, for Bland–Altman plots the HC/BC ratio calculated on the basis of ABC formula presented higher bias and wider limits of agreement compared with the HC/BC ratio calculated on the basis of ABC-cr and ABC-advanced formulas. In the receiver–operating characteristics (ROC) curve analysis the HC/BC ratio calculated on the basis of ABC ebSCr presented lower area under the ROC curve (AUROC) (AUROC = 0.89; 95%CI: 0.85–0.95; p < 0.001) compared with HC/BC ratio calculated on the basis of ABC-cr (AUROC = 0.94; 95%CI: 0.91–0.98; p < 0.001) or ABC-advanced ebSCr (AUROC = 0.914; 95%CI: 0.91–0.97; p < 0.001). In both Bland–Altman plots and ROC curve analysis, the ABC-cr and ABC-advanced formulas performed similarly. In conclusion, the ABC-cr and ABC-advanced formulas present very good diagnostic performance toward AKI identification in a population of children with T1DM onset. more...
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- 2022
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22. NAFLD and renal function in children: is there a genetic link?
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Pierluigi Marzuillo, Giuseppina Rosaria Umano, Laura Liguori, Grazia Cirillo, Antonio Paride Passaro, Anna Di Sessa, Emanuele Miraglia del Giudice, Stefano Guarino, Di Sessa, Anna, Guarino, Stefano, Passaro, Antonio Paride, Liguori, Laura, Umano, Giuseppina Rosaria, Cirillo, Grazia, Miraglia Del Giudice, Emanuele, and Marzuillo, Pierluigi more...
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kidney ,17-Hydroxysteroid Dehydrogenases ,injury ,Acyltransferase ,Renal function ,Bioinformatics ,liver ,Polymorphism, Single Nucleotide ,Pathogenesis ,03 medical and health sciences ,17-Hydroxysteroid Dehydrogenase ,0302 clinical medicine ,Non-alcoholic Fatty Liver Disease ,Nonalcoholic fatty liver disease ,medicine ,Humans ,Allele ,Renal Insufficiency, Chronic ,Child ,Membrane Protein ,Children ,Kidney ,Hepatology ,business.industry ,Mechanism (biology) ,Gastroenterology ,Membrane Proteins ,Lipase ,medicine.disease ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,030211 gastroenterology & hepatology ,genetic ,business ,Acyltransferases ,TM6SF2 ,Kidney disease ,Human - Abstract
Introduction: Over the past decades, a large amount of both adult and pediatric data has shown relationship between Nonalcoholic Fatty Liver Disease (NAFLD) and chronic kidney disease (CKD), resulting in an overall increased cardiometabolic burden. In view of the remarkable role of the genetic background in the NAFLD pathophysiology, a potential influence of the major NAFLD polymorphisms (e.g. the I148M variant of the Patatin-like phospholipase containing domain 3 (PNPLA3) gene, the E167K allele of the Transmembrane 6 superfamily member 2 (TM6SF2), the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13), and the Membrane bound O-acyltransferase domain containing 7-transmembrane channel-like 4 (MBOAT7-TMC4) genes) on renal function has been supposed. A shared metabolic and proinflammatory pathogenesis has been hypothesized, but the exact mechanism is still unknown. Areas covered: We provide a comprehensive review of the potential genetic link between NAFLD and CKD in children. Convincing both adult and pediatric evidence supports this association, but there is some dispute especially in childhood. Expert opinion: Evidence supporting a potential genetic link between NAFLD and CKD represents an intriguing aspect with a major clinical implication because of its putative role in improving strategy programs to counteract the higher cardiometabolic risk of these patients. more...
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- 2021
23. MAFLD in Obese Children: A Challenging Definition
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Pierluigi Marzuillo, Mattia Arenella, Gaetano Quaranta, Anna Di Sessa, Giuseppina Rosaria Umano, Stefano Guarino, Emanuele Miraglia del Giudice, Salvatore Alfiero, Di Sessa, Anna, Guarino, Stefano, Umano, Giuseppina Rosaria, Arenella, Mattia, Alfiero, Salvatore, Quaranta, Gaetano, Miraglia del Giudice, Emanuele, and Marzuillo, Pierluigi more...
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medicine.medical_specialty ,obesity ,Population ,030209 endocrinology & metabolism ,Context (language use) ,fatty ,liver ,Impaired glucose tolerance ,03 medical and health sciences ,0302 clinical medicine ,children ,metabolic ,Internal medicine ,Medicine ,Prediabetes ,education ,education.field_of_study ,dysfunction ,business.industry ,Communication ,Fatty liver ,lcsh:RJ1-570 ,lcsh:Pediatrics ,medicine.disease ,Impaired fasting glucose ,Obesity ,Pediatrics, Perinatology and Child Health ,030211 gastroenterology & hepatology ,Steatosis ,business - Abstract
Background: Recently, the new definition of Metabolic (dysfunction) associated fatty liver disease (MAFLD) has gained remarkable scientific interest. We aimed to evaluate the effectiveness of MAFLD definition in selecting obese children at higher cardiovascular risk. Methods: A total of 954 obese children and adolescents was retrospectively enrolled. Clinical, biochemical, and metabolic evaluations were performed. Hepatic steatosis was assessed by liver ultrasound. According to the metabolic status, the population was divided in three groups. Group 1 included obese patients without both non-alcoholic fatty liver disease (NAFLD) and metabolic dysregulation; group 2 included patients with obesity and NAFLD (then encompassing one MAFLD criterion); group 3 included patients with obesity, NAFLD and evidence of metabolic dysregulation (then encompassing more than 1 MAFLD criteria). Results: Patients of Group 3 showed a worse cardiometabolic profile, as also proven by the higher percentage of prediabetes (defined as the presence of impaired fasting glucose or impaired glucose tolerance) compared to other groups (p = 0.001). Conclusions: MAFLD criteria in obese children seem to be less accurate in identifying patients having an intrinsic higher cardiometabolic risk. This suggests the need for a more accurate definition in the context of pediatric obesity. more...
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- 2021
24. COVID-19 and pediatric fatty liver disease: Is there interplay?
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Emanuele Miraglia del Giudice, Vittorio Picone, Pierluigi Marzuillo, Anna Di Sessa, Francesca Lanzaro, Stefano Guarino, Sarah Zarrilli, Sessa, A. D., Lanzaro, F., Zarrilli, S., Picone, V., Guarino, S., Del Giudice, E. M., and Marzuillo, P. more...
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Adult ,Physiology ,Disease ,Transaminase ,Non-alcoholic Fatty Liver Disease ,Nonalcoholic fatty liver disease ,medicine ,Humans ,Adults ,Child ,Children ,Liver injury ,Gastrointestinal tract ,business.industry ,SARS-CoV-2 ,Mortality rate ,Fatty liver ,Gastroenterology ,COVID-19 ,Minireviews ,General Medicine ,medicine.disease ,Gastrointestinal Tract ,Liver ,Steatosis ,business ,Human - Abstract
The rapid global spread of coronavirus disease 2019 (COVID-19) infection has become a major health issue with higher morbidity and mortality rates. Besides respiratory symptoms, a growing body of evidence indicates a variety of gastrointestinal manifestations including liver involvement. In this regard, several data supported an association between COVID-19 infection and liver injury in adults, while in children there is compelling but currently limited evidence. In particular, patients with COVID-19 have shown a higher risk of liver injury (mainly expressed as increased transaminase levels or hepatic steatosis). Conversely, a greater risk of more severe forms of COVID-19 infection has been observed in subjects with pre-existing chronic liver diseases. The dramatic interplay between COVID-19 and liver damage has been related to the inflammatory pathways chronically active in patients with nonalcoholic fatty liver disease and acutely in those affected by COVID-19, but other different pathogenic mechanisms have also been supposed. Of note, patients with previous metabolic comorbidities also had a higher risk of severe COVID-19 infection. This emphasizes the pathogenic interrelation of the inflammatory pathways with a dysregulated metabolic milieu in COVID-19 patients. Taking into account the prognostic role of fatty liver in COVID-19 patients and its intrinsic relationship with metabolic abnormalities even in childhood, a strict monitoring of this condition is recommended. We aimed to summarize the most recent evidence regarding the potential interplay between pediatric fatty liver and COVID-19. more...
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- 2021
25. Early Renal Ultrasound in Congenital Solitary Kidney May Help to Select Patients at Lower Risk of Associated Vesicoureteral Reflux
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Pierluigi Marzuillo, Anna Di Sessa, Angela La Manna, Stefano Guarino, Cesare Polito, Davide Ursi, Pier Francesco Rambaldi, Emanuele Miraglia del Giudice, Marzuillo, P., Guarino, S., Ursi, D., Di Sessa, A., Rambaldi, P. F., La Manna, A., Del Giudice, E. M., and Polito, C. more...
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Congenital abnormalitie ,medicine.medical_specialty ,Urology ,Prenatal diagnosis ,Renal length ,urologic and male genital diseases ,Lower risk ,Scintigraphy ,Kidney ,Vesicoureteral reflux ,Solitary Kidney ,Retrospective Studie ,Pregnancy ,Medicine ,Humans ,Child ,Retrospective Studies ,Ultrasonography ,Vesico-Ureteral Reflux ,medicine.diagnostic_test ,business.industry ,Renal ultrasound ,Infant ,Hyperplasia ,medicine.disease ,Renal dysplasia ,female genital diseases and pregnancy complications ,Pediatrics, Perinatology and Child Health ,Female ,business ,Human ,Developmental Biology - Abstract
Background: Vesicoureteral reflux (VUR) may be associated with renal dysplasia and reduced renal length (RL). The diagnosis of VUR in children with congenital solitary functioning kidney (CSFK) identifies patients at risk of kidney injury but exposes to invasive procedures. Objective: We aimed to test the hypothesis that an RL >2 standard deviation score (SDS) in the first months of life – reflecting renal hyperplasia – could identify CSFK patients with lower probability of presenting VUR. Method: We retrospectively selected 207 CSFK patients with prenatal diagnosis of CSFK and having undergone renal ultrasound (RUS) both at 0–3 and 10–13 months of life, renal scintigraphy, and cystourethrography/cystoscintigraphy. We compared the cumulative proportion of an RL >2 SDS by Kaplan-Meier analysis and evaluated the odds to present VUR of patients with an RL >2 SDS both at the first and second RUS. Results: Overall, 3.3% of patients with VUR and 22.0% of patients without VUR presented an RL >2 SDS at the first RUS (p = 0.02). At the second RUS, 53.3% of patients with VUR and 52.5% of patients without VUR presented an RL >2 SDS (p = 0.93). Patients without VUR presented higher cumulative proportion of an RL >2 SDS at 3 months of life than those with VUR (p = 0.02). This difference however disappeared at 11 and 13 months of age (p = 0.17 and p = 0.54, respectively). An RL >2 SDS within 3 months of life presented an OR for VUR of 0.12 (95% CI: 0.02–0.92; p = 0.005), while an RL >2 SDS at 12 months of life presented an OR for VUR of 0.96 (95% CI: 0.45–2.1; p = 0.93). Conclusion: Only an RUS made in the first months of life could identify CSFK patients at lower risk of presenting an associated VUR. more...
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- 2021
26. Early menarche is associated with insulin-resistance and non-alcoholic fatty liver disease in adolescents with obesity
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Giuseppina Rosaria Umano, Pierluigi Marzuillo, Anna Di Sessa, Emanuele Miraglia del Giudice, Grazia Cirillo, Anna Grandone, Di Sessa, Anna, Grandone, Anna, Marzuillo, Pierluigi, Umano, Giuseppina Rosaria, Cirillo, Grazia, and Miraglia Del Giudice, Emanuele more...
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insulin ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,liver ,digestive system ,Gastroenterology ,Body Mass Index ,early ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Insulin resistance ,Non-alcoholic Fatty Liver Disease ,Risk Factors ,Internal medicine ,Nonalcoholic fatty liver disease ,Medicine ,Humans ,030212 general & internal medicine ,Obesity ,Child ,Menstruation Disturbances ,Menarche ,biology ,business.industry ,Fatty liver ,nutritional and metabolic diseases ,Anthropometry ,medicine.disease ,Prognosis ,digestive system diseases ,Alanine transaminase ,Italy ,Pediatrics, Perinatology and Child Health ,biology.protein ,Female ,Insulin Resistance ,business ,Body mass index ,Follow-Up Studies - Abstract
Objectives Recent evidence linked early menarche to a higher risk of insulin-resistance (IR) and nonalcoholic fatty liver disease (NAFLD) in adulthood. We aimed to evaluate the impact of early menarche on glucose derangements and NAFLD in a sample of Italian adolescents with obesity. Methods Anthropometric and biochemical evaluations were conducted in all the enrolled 318 obese patients (mean age 12.31 ± 2.95 years). NAFLD was defined by the presence of ultrasound detected liver steatosis and/or alanine transaminase (ALT) levels >40 IU/L. Results Patients with early menarche showed both higher homeostasis model assessment of insulin-resistance (HOMA-IR) (p=0.008) and ALT (p=0.02) values, an increased prevalence of NAFLD (p=0.001), and lower Matsuda and Insulinogenic Index (IGI) values than the other obese patients. The association between early menarche and both ALT and Matsuda Index remained significant in General Linear Models (GLMs) in which respectively body mass index standard deviation score (BMI-SDS) and Matsuda Index, and BMI-SDS were included as covariates. Patients with early menarche also showed a higher risk of both HOMA-IR>3 (OR 1.69, CI 1.05–2.70, p=0.02) and NAFLD (OR 1.10, CI 1.01–1.21, p=0.03). Conclusions Girls with obesity presenting early menarche showed higher HOMA-IR levels, lower Matsuda Index and IGI values, and higher risk of NAFLD compared to girls without early menarche. more...
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- 2020
27. Pediatric non-alcoholic fatty liver disease and kidney function: Effect of
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Anna, Di Sessa, Giuseppina Rosaria, Umano, Grazia, Cirillo, Antonio Paride, Passaro, Valentina, Verde, Domenico, Cozzolino, Stefano, Guarino, Pierluigi, Marzuillo, and Emanuele, Miraglia Del Giudice
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Adult ,Adolescent ,Fatty ,Membrane Proteins ,Observational Study ,Alanine Transaminase ,Lipase ,Kidney ,Polymorphism, Single Nucleotide ,Hydroxysteroid ,Obese ,Liver ,Non-alcoholic Fatty Liver Disease ,Dehydrogenase ,Humans ,Genetic Predisposition to Disease ,Function ,Child ,Renal ,Children - Abstract
BACKGROUND Growing evidence supports a genetic link between non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). Interesting data demonstrated that both the major NAFLD risk polymorphisms such as the I148M polymorphism in the patatin like phospholipase containing domain 3 (PNPLA3) and the E167K allele in the transmembrane 6 superfamily member 2 gene (TM6SF2) affect renal function. Recently the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been recognized as a novel genetic variant involved in NAFLD pathophysiology. In particular, it has been showed the protective effect of the rs72613567:TA variant of this gene against liver damage both in adults and children. AIM To investigate the impact of the rs72613567:TA variant of the HSD17B13 gene on estimated glomerular filtration rate (eGFR) in obese children. METHODS We enrolled 684 obese children (mean age 10.56 ± 2.94 years; mean BMI-SDS 2.98 ± 0.78) consecutively attending our Obesity Clinic. All the patients underwent a careful clinical assessment and a comprehensive biochemical evaluation. To detect hepatic steatosis, a liver ultrasound was performed. NAFLD was defined by ultrasound detected liver steatosis and/or alanine aminotransferase (ALT) levels > 40 IU/L. The study population was divided on the basis of the NAFLD presence. Genotyping for the rs72613567:TA variant of the HSD17B13 gene in all the enrolled subjects was also made. RESULTS Patients carrying the HSD17B13 rare A allele showed higher eGFR levels compared with homozygous patients both among subjects with and without NAFLD. A general linear model confirmed a direct and significant association of eGFR values with HSD17B13 genotype independently of PNPLA3 and TM6SF2 polymorphisms both in patients with and without NAFLD. A comparison of regression line confirmed the influence of HSD17B13 genotype on the relationship between eGFR and age both among patients with and without NAFLD. Homozygous patients for HSD17B13 genotype with NAFLD showed a significantly higher decline of eGFR with the increase of the age compared with the patients with NAFLD carrying the HSD17B13 rare A allele (P value for intercepts = 0.005; P value for slopes = 0.94). The same effect was observed among patients without NAFLD (P value for intercepts = 0.0012; P value for slopes = 0.87). CONCLUSION Carriers of the HSD17B13 rare A allele showed higher eGFR levels than homozygous subjects both among subjects with and without NAFLD and independently of PNPLA3 I148M and TM6SF6 E167K polymorphisms. more...
- Published
- 2020
28. Acute Kidney Injury in Children with Acute Appendicitis
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Pierluigi Marzuillo, Crescenzo Coppola, Roberta Caiazzo, Giulia Macchini, Anna Di Sessa, Stefano Guarino, Francesco Esposito, Emanuele Miraglia del Giudice, Vincenzo Tipo, Marzuillo, Pierluigi, Coppola, Crescenzo, Caiazzo, Roberta, Macchini, Giulia, Di Sessa, Anna, Guarino, Stefano, Esposito, Francesco, Miraglia Del Giudice, Emanuele, and Tipo, Vincenzo more...
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acute kidney injury ,children ,Pediatrics, Perinatology and Child Health ,acute appendiciti - Abstract
We hypothesized that-as in other common pediatric conditions-acute appendicitis (AA) could be complicated by acute kidney injury (AKI). We aimed to investigate the prevalence of, and the factors associated with AKI in a cohort of patients with AA. We retrospectively collected data of 122 children (63.9% of male gender; mean age 8.6 +/- 2.9 years; range: 2.2-13.9 years) hospitalized for AA. AKI was defined according to the Kidney Disease/Improving Global Outcomes creatinine criteria. We considered a basal serum creatinine value as the value of creatinine estimated with the Hoste (age) equation, assuming that the basal estimated glomerular filtration rate (eGFR) was 120 mL/min/1.73 m(2). Explorative univariate logistic regression analysis was used to explore the associations with AKI. Out of 122 patients, nine (7.4%) presented with AKI. One patient had stage two AKI and the remaining had stage one AKI. The maximum AKI stage was found at admission. The patients with AKI showed a higher prevalence of fever >= 38.5 degrees C (p = 0.02), vomiting (p = 0.03), >= 5% dehydration (p = 0.03), and higher levels of both C-reactive protein (CRP) (p = 0.002) and neutrophils (p = 0.03) compared with patients without AKI. Because all patients with AKI also presented with vomiting, an Odds Ratio (OR) for the vomiting was not calculable. The exploratory univariate logistic regression analysis confirmed that fever >= 38.5 degrees C (OR = 5.0; 95% CI: 1.2/21.5; p = 0.03), >= 5% dehydration (OR = 8.4; 95% CI: 1.1/69.6; p = 0.04), CRP (OR = 1.1; 95% CI: 1.05/1.2; p = 0.01), and neutrophil levels (OR = 1.1; 95% CI: 1.01/1.3; p = 0.04) were all predictive factors of AKI. AKI can occur in 7.4% of patients with AA. Particular attention should be paid to the kidney health of patients with AA especially in the presence of vomiting, >= 5% dehydration, fever >= 38.5 degrees C, and high CRP and neutrophils levels. more...
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- 2022
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29. The Membrane-bound O-Acyltransferase7 rs641738 Variant in Pediatric Nonalcoholic Fatty Liver Disease
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Emanuele Miraglia del Giudice, Grazia Cirillo, Anna Di Sessa, Roberta Iacomino, Giuseppina Rosaria Umano, Angela Del Prete, Pierluigi Marzuillo, Di Sessa, Anna, Umano, Giuseppina Rosaria, Cirillo, Grazia, Del Prete, Angela, Iacomino, Roberta, Marzuillo, Pierluigi, and Del Giudice, Emanuele Miraglia more...
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Liver Cirrhosis ,Male ,0301 basic medicine ,obesity ,medicine.medical_specialty ,Adolescent ,Genotype ,steatosi ,Polymorphism, Single Nucleotide ,Risk Assessment ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Non-alcoholic Fatty Liver Disease ,Fibrosis ,Internal medicine ,acyltransferase ,Nonalcoholic fatty liver disease ,medicine ,Humans ,Allele ,Child ,Alleles ,childhood ,biology ,business.industry ,Membrane Proteins ,Alanine Transaminase ,Lipase ,Odds ratio ,medicine.disease ,030104 developmental biology ,Alanine transaminase ,Pediatrics, Perinatology and Child Health ,biology.protein ,Female ,030211 gastroenterology & hepatology ,Steatosis ,fibrosi ,business ,Acyltransferases ,TM6SF2 - Abstract
Background The rs641738 polymorphism in the membrane-bound O-acyltransferase domain containing protein 7 (MBOAT7) gene has been associated with increased risk of nonalcoholic fatty liver disease (NAFLD). Objectives To investigate the association between the MBOAT7 rs641738 polymorphism and both hepatic steatosis and biochemical markers of liver damage and to evaluate the potential additive effect of this variant and the I148M patatin-like phospholipase domain-containing 3 (PNPLA3) and the rs58542926 transmembrane 6 superfamily member 2 (TM6SF2) polymorphisms. Methods One thousand and 2 obese children were genotyped for MBOAT7, PNPLA3, and TM6SF2 polymorphisms and underwent anthropometrical, ultrasonographic, and biochemical evaluation. Indirect measurement of liver fibrosis (Pediatric NAFLD Fibrosis Index [PNFI]) and a genetic risk score from these polymorphisms were calculated. Results Carriers of the MBOAT7 T allele showed both higher alanine transaminase (ALT) (P = 0.004) and PNFI values (P = 0.04) than noncarriers. These findings were confirmed also for the carriers of the MBOAT7 T allele polymorphism with hepatic steatosis compared with noncarriers. A higher genetic risk score was associated with higher ALT (P = 0.011) and with an odds ratio (OR) to show elevated ALT of 3.4 (95% CI 1.3-5.5, P = 0.003). Patients belonging to genetic risk score 3 group had an OR to present steatosis of 2.6 (95% CI 1.43-4.83, P = 0.0018) compared with those belonging to lower genetic risk score group. Conclusions We first demonstrated in childhood obesity the role of the MBOAT7 rs641738 variant on serum ALT and the combined effect of the MBOAT7, PNPLA3, and TM6SF2 variants on NAFLD risk. We also provided the first pediatric association of the MBOAT7 polymorphism with indirect markers of liver fibrosis. more...
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- 2018
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30. The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth
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Daniel J. Dykas, Naga Chalasani, Bridget Pierpont, Allen E. Bale, Anna Di Sessa, Sonia Caprio, Nicola Santoro, and Giuseppina Rosaria Umano
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Male ,0301 basic medicine ,Pediatric Obesity ,Alcoholic liver disease ,medicine.medical_specialty ,Adolescent ,Genotype ,Disease ,Polymorphism, Single Nucleotide ,digestive system ,White People ,03 medical and health sciences ,0302 clinical medicine ,Insulin resistance ,Non-alcoholic Fatty Liver Disease ,Polymorphism (computer science) ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Liver damage ,Child ,Gene ,Alleles ,Hepatology ,business.industry ,Fatty liver ,Gastroenterology ,Membrane Proteins ,nutritional and metabolic diseases ,Non alcoholic ,Hispanic or Latino ,Glucose Tolerance Test ,medicine.disease ,Magnetic Resonance Imaging ,digestive system diseases ,Black or African American ,030104 developmental biology ,Endocrinology ,Liver ,Female ,030211 gastroenterology & hepatology ,Insulin Resistance ,business ,Acyltransferases - Abstract
Non alcoholic fatty liver disease (NAFLD) is a leading cause of liver damage in childhood, its occurrence is influenced by genetic and environmental factors. Recently, the rs626283 polymorphism in the MBOAT7 gene has been found to be associated with alcoholic liver disease and NAFLD in adults.In a multiethnic cohort of obese children and adolescents we genotyped the rs626283 polymorphism in the MBOAT7 gene, evaluated insulin sensitivity by an oral glucose tolerance test, and measured the intra-hepatic fat content (HFF%) by magnetic resonance imaging.In Caucasian youth, the minor allele (C) was associated with HFF% in (P=0.003), fasting insulin (P=0.03), area under the curve of glucose (P=0.03), and lower degree of whole-body insulin sensitivity (P=0.01) independent of age, gender, and body mass index z-score. A partial correlation showed that the association between the rs626283 variant and insulin resistance was driven by the presence of hepatic steatosis (P=0.009). However, there was no association between the rs626283 and hepatic steatosis among Hispanic and African American children and youth. The association between the rs626283 in the MBOAT7 gene among Caucasians was independent of the PNPLA3 rs738409, GCKR 1260326, and TM6SF2 rs58542926 (P=0.01). The four polymorphisms combined explained~19% of the HFF% in Caucasian obese children and adolescents.The rs626283 variant in the MBOAT7 gene is associated with NAFLD and may affect glucose metabolism by modulating intra-hepatic fat content in Caucasian obese children and adolescents. more...
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- 2018
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31. When a secondary form of pediatric non-alcoholic fatty liver disease should be suspected?
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Pierluigi Marzuillo, Emanuele Miraglia del Giudice, Stefano Guarino, Anna Di Sessa, Grazia Cirillo, Di Sessa, Anna, Marzuillo, Pierluigi, Guarino, Stefano, Cirillo, Grazia, and Miraglia Del Giudice, Emanuele more...
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Male ,medicine.medical_specialty ,Prognosi ,Predictive Value of Test ,Disease ,digestive system ,Gastroenterology ,Simple steatosis ,03 medical and health sciences ,0302 clinical medicine ,Predictive Value of Tests ,Non-alcoholic Fatty Liver Disease ,Risk Factors ,Fibrosis ,Internal medicine ,medicine ,Humans ,Age of Onset ,Child ,Hepatology ,business.industry ,Fatty liver ,nutritional and metabolic diseases ,Non alcoholic ,Prognosis ,medicine.disease ,digestive system diseases ,Child, Preschool ,030220 oncology & carcinogenesis ,Female ,030211 gastroenterology & hepatology ,Steatohepatitis ,business ,Human - Abstract
Non-Alcoholic Fatty liver disease (NAFLD) is a multifactorial disorder – encompassing a wide spectrum of liver disorders, from simple steatosis to steatohepatitis (NASH), and ultimately fibrosis an... more...
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- 2019
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32. Pediatric non-alcoholic fatty liver disease and kidney function: Effect of HSD17B13 variant
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Giuseppina Rosaria Umano, Pierluigi Marzuillo, Anna Di Sessa, Antonio Paride Passaro, Valentina Verde, Grazia Cirillo, Emanuele Miraglia del Giudice, Domenico Cozzolino, Stefano Guarino, Sessa, Anna Di, Umano, Giuseppina Rosaria, Cirillo, Grazia, Passaro, Antonio Paride, Verde, Valentina, Cozzolino, Domenico, Guarino, Stefano, Marzuillo, Pierluigi, and Giudice, Emanuele Miraglia del more...
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medicine.medical_specialty ,business.industry ,Fatty liver ,Gastroenterology ,Renal function ,General Medicine ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Internal medicine ,Genotype ,medicine ,Population study ,030211 gastroenterology & hepatology ,Steatosis ,Allele ,business ,TM6SF2 ,Kidney disease - Abstract
Background Growing evidence supports a genetic link between non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). Interesting data demonstrated that both the major NAFLD risk polymorphisms such as the I148M polymorphism in the patatin like phospholipase containing domain 3 (PNPLA3) and the E167K allele in the transmembrane 6 superfamily member 2 gene (TM6SF2) affect renal function. Recently the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been recognized as a novel genetic variant involved in NAFLD pathophysiology. In particular, it has been showed the protective effect of the rs72613567:TA variant of this gene against liver damage both in adults and children. Aim To investigate the impact of the rs72613567:TA variant of the HSD17B13 gene on estimated glomerular filtration rate (eGFR) in obese children. Methods We enrolled 684 obese children (mean age 10.56 ± 2.94 years; mean BMI-SDS 2.98 ± 0.78) consecutively attending our Obesity Clinic. All the patients underwent a careful clinical assessment and a comprehensive biochemical evaluation. To detect hepatic steatosis, a liver ultrasound was performed. NAFLD was defined by ultrasound detected liver steatosis and/or alanine aminotransferase (ALT) levels > 40 IU/L. The study population was divided on the basis of the NAFLD presence. Genotyping for the rs72613567:TA variant of the HSD17B13 gene in all the enrolled subjects was also made. Results Patients carrying the HSD17B13 rare A allele showed higher eGFR levels compared with homozygous patients both among subjects with and without NAFLD. A general linear model confirmed a direct and significant association of eGFR values with HSD17B13 genotype independently of PNPLA3 and TM6SF2 polymorphisms both in patients with and without NAFLD. A comparison of regression line confirmed the influence of HSD17B13 genotype on the relationship between eGFR and age both among patients with and without NAFLD. Homozygous patients for HSD17B13 genotype with NAFLD showed a significantly higher decline of eGFR with the increase of the age compared with the patients with NAFLD carrying the HSD17B13 rare A allele (P value for intercepts = 0.005; P value for slopes = 0.94). The same effect was observed among patients without NAFLD (P value for intercepts = 0.0012; P value for slopes = 0.87). Conclusion Carriers of the HSD17B13 rare A allele showed higher eGFR levels than homozygous subjects both among subjects with and without NAFLD and independently of PNPLA3 I148M and TM6SF6 E167K polymorphisms. more...
- Published
- 2020
33. Transmembrane 6 superfamily member 2 167K allele improves renal function in children with obesity
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Angela La Manna, Pierluigi Marzuillo, Anna Di Sessa, Emanuele Miraglia del Giudice, Grazia Cirillo, Stefano Guarino, Marcella Pedullà, Giuseppina Rosaria Umano, Marzuillo, Pierluigi, Di Sessa, Anna, Cirillo, Grazia, Rosaria Umano, Giuseppina, Pedullà, Marcella, La Manna, Angela, Guarino, Stefano, and Del Giudice, Emanuele Miraglia more...
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Male ,medicine.medical_specialty ,Adolescent ,Genotype ,Renal function ,Disease ,Kidney ,digestive system ,Gastroenterology ,Polymorphism, Single Nucleotide ,Body Mass Index ,03 medical and health sciences ,0302 clinical medicine ,Non-alcoholic Fatty Liver Disease ,030225 pediatrics ,Diabetes mellitus ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Obesity ,Allele ,Child ,Alleles ,Ultrasonography ,business.industry ,Fatty liver ,Homozygote ,nutritional and metabolic diseases ,Membrane Proteins ,Lipase ,medicine.disease ,digestive system diseases ,Pediatrics, Perinatology and Child Health ,Female ,business ,030217 neurology & neurosurgery ,TM6SF2 ,Glomerular Filtration Rate - Abstract
The transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphism influences estimated glomerular filtration rate (eGFR) in adults without diabetes and without obesity. We aimed exploring the impact of this polymorphism on eGFR in children with obesity with and without non-alcoholic fatty liver disease (NAFLD). We genotyped 531 children with obesity for TM6SF2 E167K polymorphism. NAFLD was defined by ultrasound detected liver steatosis and/or ALT > 40 IU/L. Patients carrying the TM6SF2 167K allele showed higher eGFR levels compared with E167 homozygous patients both among subjects with and without NAFLD. A general linear model confirmed a direct and significant association of eGFR values with TM6SF2 genotype both in patients with and without NAFLD. This association, however, was stronger in patients with NAFLD. Children with obesity carrying the TM6SF2 167K allele show higher eGFR levels compared with E167 allele homozygous subjects, independently of NAFLD. A major effect of this polymorphism in the presence of NAFLD was captured. more...
- Published
- 2019
34. Nonalcoholic fatty liver disease and eGFR levels could be linked by the PNPLA3 I148M polymorphism in children with obesity
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Grazia Cirillo, Emanuele Miraglia del Giudice, Marcella Pedullà, Stefano Guarino, Giuseppina Rosaria Umano, Daniela Capalbo, Anna Di Sessa, Pierluigi Marzuillo, Angela La Manna, Marzuillo, P., Di Sessa, A., Guarino, S., Capalbo, D., Umano, G. R., Pedulla, M., La Manna, A., Cirillo, G., and Miraglia del Giudice, E. more...
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0301 basic medicine ,Male ,medicine.medical_specialty ,Adolescent ,Genotype ,Renal function ,030209 endocrinology & metabolism ,digestive system ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Liver steatosis ,children ,Polymorphism (computer science) ,Non-alcoholic Fatty Liver Disease ,Internal medicine ,NAFLD ,Nonalcoholic fatty liver disease ,medicine ,Humans ,Obesity ,Child ,PNPLA3 ,030109 nutrition & dietetics ,Nutrition and Dietetics ,Polymorphism, Genetic ,business.industry ,Health Policy ,renal function ,Public Health, Environmental and Occupational Health ,nutritional and metabolic diseases ,Membrane Proteins ,Lipase ,medicine.disease ,digestive system diseases ,Pediatrics, Perinatology and Child Health ,Female ,business ,chronic kidney disease ,Glomerular Filtration Rate - Abstract
Background: PNPLA3 I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in nonobese nondiabetic adults and in children with histologically confirmed nonalcoholic fatty liver disease (NAFLD). Objectives: The objective of the study is to explore the impact of PNPLA3 I148M polymorphism on eGFR in children with obesity with and without NAFLD. Methods: We genotyped 591 patients with obesity for PNPLA3 I148M polymorphism. Anthropometrical, biochemical, and instrumental data were collected. NAFLD was defined by the presence of ultrasound-detected liver steatosis and/or ALT levels greater than 40 IU/L. Results: Patients with NAFLD showed significantly lower eGFR levels compared with subjects without NAFLD. Children with PNPLA3 MM genotype showed lower eGFR levels compared with those with either PNPLA3 IM or II genotypes both in the presence and absence of NAFLD. A general linear model for eGFR variance, including gender, duration of obesity, PNPLA3 genotypes, HOMA, BMI-SDS, LDL-C, and triglycerides as covariates, confirmed an inverse association between eGFR and PNPLA3 genotype only in the presence of NAFLD. Conclusions: Children with obesity and PNPLA3 MM genotype show lower eGFR levels compared with other genotypes, with a major effect of this polymorphism in the presence of NAFLD. more...
- Published
- 2019
35. Bisphenol A is associated with insulin resistance and modulates adiponectin and resistin gene expression in obese children
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Sergio Rossi, Anna Grandone, Laura Perrone, Pierluigi Marzuillo, Emanuele Miraglia del Giudice, Damiano Gustavo Mita, Grazia Cirillo, Carla Nicolucci, Nadia Diano, Anna Di Sessa, Ciro Menale, and Stefania Crispi more...
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0301 basic medicine ,endocrine system ,medicine.medical_specialty ,Adipose tissue ,Adipokine ,010501 environmental sciences ,01 natural sciences ,03 medical and health sciences ,Insulin resistance ,Internal medicine ,Diabetes mellitus ,medicine ,0105 earth and related environmental sciences ,Nutrition and Dietetics ,Adiponectin ,urogenital system ,business.industry ,Health Policy ,Public Health, Environmental and Occupational Health ,nutritional and metabolic diseases ,medicine.disease ,Obesity ,030104 developmental biology ,Endocrinology ,Pediatrics, Perinatology and Child Health ,Resistin ,business ,hormones, hormone substitutes, and hormone antagonists ,Homeostasis - Abstract
Summary Background Bisphenol A (BPA) exposure has been associated with increased incidence of diabetes and obesity in adults. Objectives To evaluate whether an association between BPA urinary levels and insulin resistance as well as adiponectin and resistin production and serum concentrations may occur in obese children. Methods Clinical and biochemical features of 141 obese children were collected. Serum resistin and adiponectin were evaluated. Insulin resistance and urinary BPA levels were assessed. Moreover, the effect of BPA on adiponectin and resistin gene expression in adipocytes from eight normal weight prepubertal children was investigated by quantitative real-time RT-PCR (qPCR). Results Direct association between BPA and homeostasis model assessment (r = 0.23; p: 0.0069) and a strong inverse association between BPA and adiponectin have been found (r = −0.48; p more...
- Published
- 2016
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36. Hematuria at dipstick on first versus second morning voiding: A screening for patients with persistent isolated hematuria?
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Pierluigi Marzuillo, Giuseppina Rosaria Umano, Cesare Polito, Stefano Guarino, Angela La Manna, Anna Di Sessa, Emanuele Miraglia del Giudice, Roberta Schiano di Cola, Guarino, Stefano, Schiano di Cola, Roberta, La Manna, Angela, Rosaria Umano, Giuseppina, Di Sessa, Anna, Polito, Cesare, Miraglia del Giudice, Emanuele, and Marzuillo, Pierluigi more...
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0301 basic medicine ,medicine.medical_specialty ,Receiver operating characteristic ,business.industry ,Urology ,General Medicine ,Dipstick ,urologic and male genital diseases ,medicine.disease ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Blood pressure ,ROC Curve ,Glomerulopathy ,Relative risk ,medicine ,Humans ,Microscopic hematuria ,Child ,business ,Macroscopic hematuria ,030217 neurology & neurosurgery ,Hematuria ,Morning - Abstract
Background In our clinical practice we observed that –differently from patients with defined glomerulopathies– children with persistent isolated microscopic hematuria (PImH) usually shows at dipstick on first compared with second morning voiding lower degree of hematuria. We hypothesized that comparison of hematuria degree between first and second morning voiding (dipstick comparison test) could help in selection of patients needing of specific investigations. In this study, we aimed preliminarily validating our hypothesis. Methods To define the risk of active glomerulopathies we used patients with defined glomerulopathies as cases. We prospectively enrolled 103 children during a one-year period. Sixty-nine of them had PImH, 16 microscopic/macroscopic hematuria (mMH), and 18 defined glomerulopathies. Inclusion criteria were: 1) persistent microscopic hematuria (≥1+ at dipstick) with or without defined glomerulopathy and/or previous episodes of macroscopic hematuria; 2) for the patients without defined glomerulopathy, having made regular biannual follow-up visits for at least 2 years in our department; 3) normal renal function and blood pressure at enrollment visit. We compared hematuria degree between first and second morning voiding. Possible findings were absence (NH), less degree (LH), similar degree (SH), and higher degree (HH) of hematuria in the first compared with second voiding. Results At dipstick comparison test, 27.2% of patients presented NH, 44.7% LH, 28.1% SH, and none HH. NH showed specificity and PPV of 100% and significant area under receiver operating characteristic curve (AUROC = 0.66; 95%CI:0.55–0.78; p = 0.03) for absence of defined glomerulopathies. LH showed better sensitivity (76.9% Vs 33%) and NPV (78.9% Vs 24%) and lower specificity (88.2% Vs 100%) and PPV (87.0% Vs 100%) than NH for absence of defined glomerulopathies. Moreover, the LH showed a non-significant AUROC curve for presence of defined glomerulopathies. SH showed specificity of 80%, NPV of 91.9% and significant AUROC curve for presence of defined glomerulopathies (0.67; 95%CI:0.55–0.80; p = 0.009). The ROC curve analysis examining the delta of hematuria degree comparing first with second morning urine voiding showed a significant AUROC curve (AUROC = 0.78; 95%CI,0.68–0.89; p = 0.0002) with delta ≤ 1 showing the best sensitivity (80%) and specificity (66.7%) for defined glomerulopathies. None of the patients with defined glomerulopathies presented NH. Having SH presented relative risk for defined glomerulopathy of 5.1 (95%CI:1.9–13.6; p = 0.0007). Conversely, taken together NH and LH the RR was 0.2 (95%CI 0.1–0.5; p = 0.0007). Interpretations The dipstick on the first urine voiding underestimates the hematuria in about 70% of patients. The dipstick comparison test might easily screen patients with PImH and mMH needing of further investigations and treatment. more...
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- 2020
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37. Association between 14 bp insertion/deletion HLA-G functional polymorphism and insulin resistance in a cohort of Italian children with obesity
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Emanuele Miraglia del Giudice, Giulia Bellini, Giuseppina Rosaria Umano, Francesca Punzo, Roberto Toraldo, Francesca Rossi, Anna Di Sessa, Pierluigi Marzuillo, and Stefano Guarino
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Male ,medicine.medical_specialty ,Pediatric Obesity ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Population ,030209 endocrinology & metabolism ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Insulin resistance ,Gene Frequency ,INDEL Mutation ,Polymorphism (computer science) ,Internal medicine ,White blood cell ,HLA-G ,Genotype ,Internal Medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,education ,Child ,Genetic Association Studies ,HLA-G Antigens ,Inflammation ,education.field_of_study ,Polymorphism, Genetic ,business.industry ,medicine.disease ,Obesity ,medicine.anatomical_structure ,Endocrinology ,Italy ,Case-Control Studies ,Pediatrics, Perinatology and Child Health ,Asymptomatic Diseases ,Female ,Insulin Resistance ,business ,030215 immunology - Abstract
BACKGROUND The non-classical HLA-class I molecule-g (HLA-G) gene shows a deletion/insertion (del/ins) polymorphism of a 14-base-pair sequence (14 bp) in the exon 8 at the 3' untranslated region. The presence of the 14 bp insertion allele has been associated to lower soluble HLA-G protein production, a protein with anti-inflammatory activities. So far, no studies have investigated the relationship between HLA-G 14 bp del/ins polymorphism and metabolic features of obese children and adolescents. We aimed to assess if the HLA-G ins/del polymorphism, and in particular the HLA-G ins/ins genotype determining lower sHLA-G production, is associated to insulin resistance (evaluated by homeostasis model assessment [HOMA]) in a population of obese children. METHODS We enrolled 574 obese children and adolescents. Anthropometric and laboratory data were collected. The white blood cell (WBC) count was evaluated as surrogate marker of inflammation. C-reactive protein (CRP) was available in 48 patients. HOMA was calculated. Patients were genotyped for the HLA-G del/ins polymorphism. RESULTS Subjects carrying the HLA-G ins/ins genotype, presented with higher HOMA, WBC and CRP values, compared to del/ins and del/del genotypes (P ≤ 0.0009, ≤0.02 and ≤0.0001, respectively). Comparison of the regression line slopes, performed for HOMA and WBC on the basis of HLA-G genotypes, showed that subjects carrying the HLA-G ins/ins genotype presented with a stronger correlation between HOMA and WBC, compared to the other genotypes (Model r2 3.13%, P ≤ 0.006). CONCLUSIONS We showed a strong association between HLA-G 14 bp ins/ins genotype and HOMA in obese children and adolescents. This association could be hypothetically modulated by subclinical inflammation. more...
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- 2018
38. Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance
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Carlo Capristo, Laura Ruggiero, Grazia Cirillo, Emanuele Miraglia del Giudice, Anna Grandone, Pierluigi Marzuillo, Anna Di Sessa, Giuseppina Rosaria Umano, Laura Perrone, MIRAGLIA DEL GIUDICE, Emanuele, Grandone, Anna, Cirillo, G, Capristo, Carlo, Marzuillo, P, Di Sessa, A, Umano, Gr, Ruggiero, L, and Perrone, Laura more...
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Vitamin ,medicine.medical_specialty ,Vitamin D-binding protein ,business.industry ,Endocrinology, Diabetes and Metabolism ,Insulin ,medicine.medical_treatment ,Biochemistry (medical) ,Clinical Biochemistry ,Context (language use) ,medicine.disease ,Biochemistry ,Childhood obesity ,chemistry.chemical_compound ,Endocrinology ,Insulin resistance ,chemistry ,Polymorphism (computer science) ,Internal medicine ,medicine ,Vitamin D and neurology ,business - Abstract
Context: Studies examining vitamin D levels in association with childhood obesity usually do not consider the effect of insulin on vitamin D–binding protein and do not calculate the unbound, bioavailable vitamin D. Objective: This study aimed to evaluate in a group of children 1) the concentrations of both total 25-hydroxyvitamin D and bioavailable fraction, and 2) the potential role of insulin resistance in modulating the concentrations of bioavailable vitamin D. Design, Setting, and Patients or Other Participants: This was a cross-sectional study at a University Pediatric Department in which 63 obese children and 21 lean controls were enrolled. Main Outcome Measures: Total 25-hydroxyvitamin D and vitamin D–binding protein were measured, twosingle-nucleotide polymorphisms in the coding region of the vitaminD–binding protein (rs4588 and rs7041) were studied, and the vitamin D bioavailable fraction was calculated. Results: Obese children showed total 25-hydroxyvitamin D levels lower compared with nonobese children (21.36.7 ng/mL vs 29.611.7 ng/mL; P.0004). Bioavailable 25-hydroxyvitaminDlevels were not different among the two groups (3.1 1.6 ng/mL vs 2.6 1.2 ng/mL; P .05). Insulinresistant children showed higher bioavailable levels of 25-hydroxyvitamin D compared with noninsulin- resistant children (3.4 1.4 ng/mL vs 2.0 0.9 ng/mL; P .013) and an inverse correlation between insulin resistance and vitamin D–binding protein was found (r: 0.40; P .024). Conclusions: Obese children present levels of bioavailable 25-hydroxyvitamin D similar to those of normal-weight children due to reduced concentration of vitamin D–binding protein. The insulin resistance could play a role in this reduced concentrati more...
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- 2015
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39. Atopy as a risk factor for subclinical hypothyroidism development in children
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Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Laura Perrone, Giuseppina Rosaria Umano, Francesco Capuano, Vincenzo Fierro, Anna Di Sessa, Marcella Pedullà, Pedullã , Marcella, Umano, Giuseppina Rosaria, Fierro, Vincenzo, Capuano, Francesco, Di Sessa, Anna, Marzuillo, Pierluigi, Perrone, Laura, and Del Giudice, Emanuele Miraglia more...
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0301 basic medicine ,Hypersensitivity, Immediate ,Male ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,atopy ,Thyrotropin ,030209 endocrinology & metabolism ,Thyroid Function Tests ,Thyroid function tests ,Gastroenterology ,Severity of Illness Index ,Atopy ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,children ,Hypothyroidism ,Risk Factors ,Internal medicine ,Severity of illness ,medicine ,follow-up ,Humans ,Significant risk ,Risk factor ,Child ,Increased thyroid-stimulating hormone ,Subclinical infection ,medicine.diagnostic_test ,business.industry ,Infant ,medicine.disease ,subclinical hypothyroidism ,body regions ,030104 developmental biology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Thyroid function ,business - Abstract
Background:Increased thyroid stimulating hormone (TSH) serum concentration can be a marker of subclinical hypothyroidism (SCH) or transient hyperthyrotropinemia. The aim of our study was to evaluate whether high serum TSH concentrations in allergic children could represent true SCH or isolated and transient hyperthyrotropinemia.Methods:We enrolled 620 allergic children (1.11–12.8 years) consecutively attending to our department. They were classified as atopics and non-atopics on the basis of the atopy work-up and, at baseline, they were investigated for thyroid function and low-grade inflammation state. Further, TSH was evaluated after 6 (T1) and 12 (T2) months.Results:Both atopics and non-atopics showed higher SCH prevalence compared to controls (p=0.0055 and p=0.02, respectively), and a significant association between atopy and SCH (OR 10.11, 95% CI 1.36–75.12) was found. Both at T1 and T2, atopics had a significant risk of developing severe SCH compared to non-atopics (RR 1.8, 95% CI 1.39–2.34 and 1.61, 95% CI 1.21–2.14; respectively).Conclusions:Our data may suggest that hyperthyrotropinemia in atopic children could be used as a marker of true SCH. more...
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- 2017
40. Novel association between the nonsynonymous A803G polymorphism of the N-acetyltransferase 2 gene and impaired glucose homeostasis in obese children and adolescents
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Luigia Nunziata, Grazia Cirillo, Anna Grandone, Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Anna Di Sessa, Giuseppina Rosaria Umano, Laura Perrone, Marzuillo, Pierluigi, Di Sessa, Anna, Umano, Giuseppina Rosaria, Nunziata, Luigia, Cirillo, Grazia, Perrone, Laura, MIRAGLIA DEL GIUDICE, Emanuele, and Grandone, Anna more...
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0301 basic medicine ,Blood Glucose ,Male ,medicine.medical_specialty ,Adolescent ,Arylamine N-Acetyltransferase ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,N-acetyltransferase 2 ,Impaired glucose tolerance ,03 medical and health sciences ,0302 clinical medicine ,Glucose Metabolism Disorder ,Internal medicine ,Genotype ,medicine ,Internal Medicine ,Glucose homeostasis ,Homeostasis ,Humans ,Obesity ,Allele ,Glucose intolerance ,Child ,Glucose Metabolism Disorders ,Anthropometry ,business.industry ,Insulin secretion ,Type 2 Diabetes Mellitus ,Pediatric obesity ,Odds ratio ,medicine.disease ,Exaggerated plasma glucose excursion at 1h ,030104 developmental biology ,Endocrinology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,business - Abstract
BACKGROUND The N-acetyltransferase 2 ( NAT2 ) A803G polymorphism has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin-resistance-related traits. OBJECTIVE Evaluate the association of this polymorphism with anthropometric and metabolic parameters in obese children and adolescents. SUBJECTS A total of 748 obese children and adolescents were enrolled. METHODS Anthropometric and laboratory data were collected. During oral glucose tolerance test, the presence of a possible exaggerated plasma glucose excursion at 1 h (1HPG) or impaired glucose tolerance (IGT) was considered. Homeostasis model assessment, oral disposition index (oDI) and insulinogenic index (IDI) were calculated. Patients were genotyped for the NAT2 A803G polymorphism. RESULTS The prevalence of both IGT and elevated-1HPG was higher in children carrying the A803 allele (P = .02 and P = .03). Moreover, this allele was associated with both oDI and IGI reduction (P = .01). No differences among the NAT2 A803G genotypes for the other parameters were shown. Children homozygous for the A allele presented an odds ratio (OR), to show IGT of 4.9 (P = .01). Children both homozygous and heterozygous for the A allele had higher risk to show elevated-1HPG (OR of 2.7, P = .005; and OR = 2.3, P = .005) compared with patients homozygous for the NAT2 803G allele. CONCLUSIONS NAT2 A803 allele seems to play a role in worsening the destiny of obese children carrying it, predisposing them to elevated-1HPG and IGT and then to a possible future type 2 diabetes mellitus throughout an impairment of pancreatic β-cellular insulin secretion as suggested by oDI and IGI reduction. more...
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- 2016
41. An abdominal and unexpected cause of persistent fever in a 3-year old boy
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Emanuele Miraglia del Giudice, Anna Grandone, Nicoletta Della Vecchia, Carlo Capristo, Laura Perrone, Pierluigi Marzuillo, Anna Di Sessa, Tiziana Esposito, Marzuillo, Pierluigi, Grandone, Anna, Di Sessa, Anna, Esposito, Tiziana, Della Vecchia, Nicoletta, Capristo, Carlo, MIRAGLIA DEL GIUDICE, Emanuele, and Perrone, Laura more...
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Pediatrics ,medicine.medical_specialty ,business.industry ,Persistent fever ,Gastroenterology ,medicine ,business - Published
- 2016
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42. The Association between Non-Alcoholic Fatty Liver Disease and Cardiovascular Risk in Children
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Giuseppina Rosaria Umano, Emanuele Miraglia del Giudice, Anna Di Sessa, Di Sessa, Anna, Umano, Giuseppina Rosaria, and Miraglia Del Giudice, Emanuele
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medicine.medical_specialty ,Pediatrics ,cardiac ,Review ,Disease ,030204 cardiovascular system & hematology ,Chronic liver disease ,digestive system ,Gastroenterology ,Childhood obesity ,diseases ,03 medical and health sciences ,atherosclerosi ,0302 clinical medicine ,Internal medicine ,medicine ,Risk factor ,risk ,Subclinical infection ,disease ,business.industry ,cardiovascular ,Fatty liver ,lcsh:RJ1-570 ,nutritional and metabolic diseases ,lcsh:Pediatrics ,Non alcoholic ,medicine.disease ,digestive system diseases ,Non-Alcoholic Fatty Liver Disease ,Pediatrics, Perinatology and Child Health ,abnormalitie ,030211 gastroenterology & hepatology ,abnormalities ,atherosclerosis ,business ,Pediatric population - Abstract
The rising prevalence of childhood obesity in the past decades has made Non-Alcoholic Fatty Liver Disease (NAFLD) the most common cause of pediatric chronic liver disease worldwide. Currently, a growing body of evidence links NAFLD with cardiovascular disease (CVD) even at an early age. Data on the pediatric population have shown that NAFLD could represent an independent risk factor not only for cardiovascular events but also for early subclinical abnormalities in myocardial structure and function. Briefly, we review the current knowledge regarding the relationship between pediatric NAFLD and cardiovascular risk in an attempt to clarify our understanding of NAFLD as a possible cardiovascular risk factor in childhood. more...
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- 2017
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43. Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity
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Laura Perrone, Grazia Cirillo, Anna Grandone, Emanuele Miraglia del Giudice, Tiziana Romano, Alessandra Amato, Anna Di Sessa, Alberto Maria Corona, and Nicoletta Cresta
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Male ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Thyroid Gland ,Thyrotropin ,Context (language use) ,Thyroid Function Tests ,Polymorphism, Single Nucleotide ,Childhood obesity ,Cohort Studies ,Endocrinology ,Hypothyroidism ,Polymorphism (computer science) ,Internal medicine ,Genotype ,medicine ,Homeostasis ,Humans ,Genetic Predisposition to Disease ,Obesity ,Age of Onset ,Child ,business.industry ,Thyroid ,Genetic Variation ,General Medicine ,Odds ratio ,medicine.disease ,medicine.anatomical_structure ,3',5'-Cyclic-AMP Phosphodiesterases ,Case-Control Studies ,Child, Preschool ,Female ,business ,Body mass index - Abstract
ContextSeveral studies demonstrated that obese children have higher TSH than normal-weight children. The polymorphism rs4704397 in the phosphodiesterase 8B (PDE8B) gene showed an association with TSH.Objectivesi) To assess the effect of PDE8B on TSH in obese children; ii) to dissect the role of obesity degree in modulating this association; and iii) to stratify the individual risk to show hyperthyrotropinaemia according to PDE8B genotype.MethodsEight hundred and sixty-seven Italian obese children were investigated. Clinical data and thyroid hormones were evaluated and the PDE8B rs4704397 was genotyped.ResultsPDE8B A/A homozygous subjects showed higher TSH (P=0.0005) compared with A/G or G/G. No differences were found for peripheral thyroid hormones. Among A/A children, 22% had hyperthyrotropinaemia, compared with 11.6% of heterozygotes and 10.8% of G/G (P=0.0008). Consistently, A/A had an odds ratio (OR) to show abnormal TSH level of 2.25 (P=0.0004). Body mass index (BMI) appeared correlated with TSH (P=0.0001), but the strength of the effect of PDE8B on TSH was independent of BMI (P=0.1).Children were subdivided into six groups according to obesity degree and genotypes. PDE8B A/A with BMI SDS above 3 had the highest OR (OR 2.6, P=0.0015) to have hyperthyrotropinaemia, whereas G/G with BMI SDS below 3 showed the lowest possibilities (OR 0.3, P=0.005).ConclusionsWe have shown: i) in obese children, PDE8B is associated with TSH; ii) the interaction between adiposity and PDE8B on TSH is not synergistic, but follows an additive model; and iii) impact of this association in the stratification of individual risk to have hyperthyrotropinaemia. more...
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- 2011
44. Novel association between a nonsynonymous variant (R270H) of the G-protein-coupled receptor 120 and liver injury in children and adolescents with obesity
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Grazia Cirillo, Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Laura Perrone, Giuseppina Rosaria Umano, Anna Grandone, Roberta Romano, Anna Di Sessa, Francesco Capuano, Mariasole Conte, Marzuillo, P, Grandone, Anna, Conte, M, Capuano, F, Cirillo, G, Di Sessa, A, Umano, Gr, Romano, R, Perrone, Laura, and MIRAGLIA DEL GIUDICE, Emanuele more...
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Nonsynonymous substitution ,Male ,medicine.medical_specialty ,Heterozygote ,Pediatric Obesity ,Adolescent ,Genotype ,Adipose tissue ,Inflammation ,G-protein-coupled receptor 120 ,Receptors, G-Protein-Coupled ,Internal medicine ,medicine ,Odds Ratio ,Humans ,Nonalcoholic fatty liver disease ,Receptor ,Child ,Alanine transaminase ,Membrane Protein ,Alleles ,G protein-coupled receptor ,Liver injury ,chemistry.chemical_classification ,Allele ,Polymorphism, Genetic ,business.industry ,Gastroenterology ,Membrane Proteins ,GPR120 ,Lipase ,medicine.disease ,Fatty Liver ,Endocrinology ,chemistry ,Adipose Tissue ,Liver ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Fatty Acids, Unsaturated ,Female ,medicine.symptom ,business ,Polyunsaturated fatty acid ,Patatin-like phospholipasecontaining domain 3 ,Human - Abstract
The G-protein-coupled receptor 120 (GPR120) is a receptor for polyunsaturated fatty acids with anti-inflammatory activity. The R270H variant of GPR120 enhances inflammation in adipose and hepatic tissues. We investigated whether the R270H variant could play a role in determining liver injury in children and adolescents with obesity. Five hundred eighty-one children with obesity were studied. No homozygotes and 20 heterozygotes for the 270H allele were found. Heterozygotes showed higher alanine transaminase (ALT) levels (P=0.01) than wild-type subjects, and also showed an odds ratio to have pathologic ALT of 3.2 (95% confidence interval [CI] 1.2-8.0, P< 0.05). Moreover, we genotyped the same patients for the patatin-like phospholipase-containing domain 3 (PNPLA3) I148M polymorphism, which is implicated in the development of liver steatosis. Stratifying the patients with the GPR120 270H variant on the basis of their PNPLA3 polymorphism, we demonstrated a significant interaction effect on ALT levels (P=0.00001), suggesting a driving effect of the PNPLA3 148M allele on liver injury in children with obesity carrying this variant. more...
45. How to use paracetamol,Come si usa il paracetamolo
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anna di sessa, Nappi, F., Marzuillo, P., and Barbi, E.
46. Tramadol: An effective alternative to codeine?,Tramadolo: Valida alternativa alla codeina?
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anna di sessa, Marzuillo, P., Calligaris, L., Rabach, I., Furlan, S., and Barbi, E.
47. The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 gene reduces liver damage in obese children
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Giuseppina Rosaria Umano, Marcella Pedullà, Emanuele Miraglia del Giudice, Grazia Cirillo, Maria Rosaria Arienzo, Anna Di Sessa, Pierluigi Marzuillo, Di Sessa, Anna, Umano, Giuseppina Rosaria, Cirillo, Grazia, Marzuillo, Pierluigi, Arienzo, Maria Rosaria, Pedullà, Marcella, and Giudice, Emanuele Miraglia Del more...
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medicine.medical_specialty ,17-Hydroxysteroid Dehydrogenases ,Genotype ,Population ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Non-alcoholic Fatty Liver Disease ,Fibrosis ,030225 pediatrics ,Internal medicine ,Genetic predisposition ,medicine ,Humans ,Genetic Predisposition to Disease ,Obesity ,Allele ,Child ,Beta (finance) ,education ,Hydroxysteroids ,education.field_of_study ,business.industry ,Gastroenterology ,medicine.disease ,Endocrinology ,Liver ,chemistry ,Pediatrics, Perinatology and Child Health ,030211 gastroenterology & hepatology ,Hydroxysteroid ,Steatosis ,Oxidoreductases ,business ,TM6SF2 - Abstract
We first investigated in obese children the protective role of the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) rs72613567:TA variant in liver damage. Six hundred eighty-five obese children were genotyped for HSD17B13, patatin-like phospholipase domain containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), and membrane bound O-acyltransferase domain containing 7 (MBOAT7) polymorphisms and underwent anthropometrical, ultrasonographic, and biochemical evaluation. Indirect measurement of liver fibrosis (Pediatric NAFLD Fibrosis Index [PNFI]) was calculated. The population was clustered in 2 genetic risk groups based on the numbers of steatogenic alleles (low: carriers up to 3 risk alleles, high: 4-6 risk alleles). Carriers of the HSD17B13 rare A allele showed lower percentage of hepatic steatosis and both lower serum transaminase and PNFI levels than noncarriers, even after adjustments for confounders. These findings were also confirmed in both risk groups. We demonstrated the protective effect of the rs72613567:TA HSD17B13 variant in reducing liver damage in obese children regardless of genetic predisposition. more...
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