|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Appendicitis in children less than five years old:A challenge for the general practitioner显示文摘Acute appendicitis is one of the most common indications for abdominal surgery in pediatrics with peak incidence in the second decade of life. Acute appendicitis in the first years of life is an uncommon event. The clinical presentation is often varied and the diagnosis may be overshadowed by other medical conditions.Gastroenteritis is the most common misdiagnosis, with a history of diarrhea present in 33% to 41% of patients. Pain is the most common presenting symptom in children less than 5 years old, followed by vomiting, fever, anorexia and diarrhea. The most common physical sign is focal tenderness(61% of the patients) followed by guarding(55%), diffuse tenderness(39%), rebound(32%), and mass(6%). Neonatal appendicitis is a very rare disease with high mortality; presenting symptoms are nonspecific with abdominal distension representing the main clinical presentation. The younger the patient, the earlier perforation occurs: 70% of patients less than 3 years develop a perforation within 48 h of onset of symptoms. A timely diagnosis reduces the risk of complications. We highlight the epidemiology, pathophysiology, clinical signs and laboratory clues of appendicitis in young children and suggest an algorithm for early diagnosis. | Pierluigi Marzuillo Claudio Germani Baruch S Krauss Egidio Barbi | 2015 | World Journal of Clinical Pediatrics2015，4，2： | 10 |
| 2 | Understanding the pathophysiological mechanisms in the pediatric non-alcoholic fatty liver disease: The role of genetics显示文摘Classically, the non-alcoholic fatty liver disease(NAFLD) physiopathology and progression has been summarized in the two hits hypothesis. The first hit is represented by the action of hyperinsulinemia and insulin resistance, accompanying obesity, that leads to liver steatosis increasing the absolute non esterified fatty acids uptake in the liver and the esterification to form triacylglycerol. The oxidative stress is involved in the second hit leading to the progression to nonalcoholic steatohepatitis(NASH) because of its harmful action on steatosic hepatocytes. However, at the present time, the two hits hypothesis needs to be updated because of the discover of genetic polymorphisms involved both in the liver fat accumulation and progression to NASH that make more intriguing understanding the NAFLD pathophysiological mechanisms. In this editorial, we want to underline the role of PNPLA3 I148 M, GPR120 R270 H and TM6SF2 E167 K in the pediatric NAFLD development because they add new pieces to the comprehension of the NAFLD pathophysiological puzzle. The PNPLA3 I148 M polymorphism encodes for an abnormal protein which predisposes to intrahepatic triglycerides accumulation both for a loss-of-function of its triglyceride hydrolase activity and for a gain-of-function of its lipogenic activity.Therefore, it is involved in the first hit, such as TM6SF2 E167 K polymorphisms that lead to intrahepatic fat accumulation through a reduced very low density lipoprotein secretion. On the other hand, the GPR120 R270 H variant, reducing the anti-inflammatory action of the GPR120 receptor expressed by Kuppfer cells, is involved in the second hit leading to the liver injury. | Pierluigi Marzuillo Anna Grandone Laura Perrone Emanuele Miraglia del Giudice | 2015 | World Journal of Hepatology2015，7，11： | 9 |
| 3 | Pediatric non-alcoholic fatty liver disease:New insights and future directions显示文摘One of the most common complications of childhood obesity is the non-alcoholic fatty liver disease(NAFLD),which is the most common form of liver disease in children.NAFLD is defined by hepatic fat infiltration > 5% hepatocytes,as assessed by liver biopsy,in the absence of excessive alcohol intake,viral,autoimmune and drug-induced liver disease.It encompasses a wide spectrum of liver diseases ranging from simple steatosis to non-alcoholic steatohepatitis,which,in turn,can evolve into cirrhosis and end stage liver disease.Obesity and insulin resistance are the main risk factors for pediatric NAFLD.In fact,NAFLD is strongly associated with the clinical features of insulin resistance especially the metabolic syndrome,prediabetes and type 2 diabetes mellitus(T2D).In particular,it has been clearly shown in obese youth that the prevalence of metabolic syndrome,pre-diabetes and type 2 diabetes increaseswith NAFLD severity progression.Evidence that not all of the obese patients develop NAFLD suggests that the disease progression is likely to depend on complex interplay between environmental factors and genetic predisposition.Recently,a non-synonymous SNP(rs738409),characterized by a C to G substitution encoding an isoleucine to methionine substitution at the amino acid position 148 in the patatin like phospholipase containing domain 3 gene(PNPLA3),has been associated with hepatic steatosis in a multiethnic cohort of adults as well as in children.Another important polymorphisms that acts with PNPLA3 to convey susceptibility to fatty liver in obese youths is the rs1260326 polymorphism in the glucokinase regulatory protein.The pharmacological approach in NAFLD children poorly adherent to or being unresponsive/partially responsive to lifestyle changes,is aimed at acting upon specific targets involved in the pathogenesis.There are some therapeutic approaches that are being studied in children.This article reviews the current knowledge regarding the pediatric fatty liver disease,the new insights and the future directions. | Pierluigi Marzuillo Emanuele Miraglia del Giudice Nicola Santoro | 2014 | World Journal of Hepatology2014，6，4： | 4 |
| 4 | Pediatric fatty liver disease:Role of ethnicity and genetics显示文摘Non-alcoholic fatty liver disease(NAFLD)comprehends a wide range of conditions,encompassing from fatty liver or steatohepatitis with or without fibrosis,to cirrhosis and its complications.NAFLD has become the most common form of liver disease in childhood as its prevalence has more than doubled over the past 20years,paralleling the increased prevalence of childhood obesity.It currently affects between 3%and11%of the pediatric population reaching the rate of46%among overweight and obese children and adolescents.The prevalence of hepatic steatosis varies among different ethnic groups.The ethnic group with the highest prevalence is the Hispanic one followed by the Caucasian and the African-American.This evidence suggests that there is a strong genetic background in the predisposition to fatty liver.In fact,since 2008several common gene variants have been implicated in the pathogenesis of fatty liver disease.The most important is probably the patatin like phospholipase containing domain 3 gene(PNPLA3)discovered by the Hobbs’group in 2008.This article reviews the current knowledge regarding the role of ethnicity and genetics in pathogenesis of pediatric fatty liver. | Pierluigi Marzuillo Emanuele Miraglia del Giudice Nicola Santoro | 2014 | World Journal of Gastroenterology2014，20，23： | 3 |
| 5 | Rituximab-induced IgG hypogammaglobulinemia in children with nephrotic syndrome and normal pre-treatment IgG values显示文摘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. | Pierluigi Marzuillo Stefano Guarino Tiziana Esposito Anna Di Sessa Sara Immacolata Orsini Daniela Capalbo Emanuele Miraglia del Giudice Angela La Manna | 2019 | World Journal of Clinical Cases2019，7，9： | 2 |
| 6 | Knowledge, attitudes and behavior of physicians regarding predictive genetic tests for breast and colorectal cancer显示文摘 | Carolina Marzuillo Corrado De Vito Stefania Boccia Maddalena D’Addario Elvira D’Andrea Paola Santini Antonio Boccia Paolo Villari | 2013 | Preventive Medicine2013，，： | 1 |
| 7 | Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome,GH deficiency,Arnold Chiari malformation and pituitary hypoplasia显示文摘 | Marzuillo P Grandone A Coppola R | 2013 | BMC Med Genet2013，14，： | 1 |
| 8 | An international Delphi consensus statement on metabolic dysfunction-associated fatty liver disease and risk of chronic kidney disease显示文摘Background:With the rising global prevalence of fatty liver disease related to metabolic dysfunction,the association of this common liver condition with chronic kidney disease(CKD)has become increasingly evident.In 2020,the more inclusive term metabolic dysfunction-associated fatty liver disease(MAFLD)was proposed to replace the term non-alcoholic fatty liver disease(NAFLD).The observed association between MAFLD and CKD and our understanding that CKD can be a consequence of underlying metabolic dysfunction support the notion that individuals with MAFLD are at higher risk of having and developing CKD compared with those without MAFLD.However,to date,there is no appropriate guidance on CKD in individuals with MAFLD.Furthermore,there has been little attention paid to the link between MAFLD and CKD in the Nephrology community.Methods and Results:Using a Delphi-based approach,a multidisciplinary panel of 50 international experts from 26 countries reached a consensus on some of the open research questions regarding the link between MAFLD and CKD.Conclusions:This Delphi-based consensus statement provided guidance on the epidemiology,mechanisms,management and treatment of MAFLD and CKD,as well as the relationship between the severity of MAFLD and risk of CKD,which establish a framework for the early prevention and management of these two common and interconnected diseases. | Dan-Qin Sun Giovanni Targher Christopher D.Byrne David C.Wheeler Vincent Wai-Sun Wong Jian-Gao Fan Herbert Tilg Wei-Jie Yuan Christoph Wanner Xin Gao Michelle T.Long Mehmet Kanbay Mindie H.Nguyen Sankar D.Navaneethan Yusuf Yilmaz Yuli Huang Rino A.Gani Pierluigi Marzuillo Jérôme Boursier Huijie Zhang Chan-Young Jung Jin Chai Luca Valenti George Papatheodoridis Giovanni Musso Yu-Jun Wong Mohamed El-Kassas Nahum Méndez-Sánchez Silvia Sookoian Michael Pavlides Ajay Duseja Adriaan G.Holleboom Junping Shi Wah-Kheong Chan Yasser Fouad Junwei Yang Sombat Treeprasertsuk Helena Cortez-Pinto Masahide Hamaguchi Manuel Romero-Gomez Mamun Al Mahtab Ponsiano Ocama Atsushi Nakajima Chunsun Dai Mohammed Eslam Lai Wei Jacob George Ming-Hua Zheng | 2023 | Hepatobiliary Surgery and Nutrition2023，12，3： | 1 |
| 9 | Oral contraceptives and venous thromboembolism: a systematic review and Meta-analysis 显示文摘 | MANZOLI L DE VITO C MARZUILLO C | 2012 | Drug Saf2012，35，3： | 1 |
| 10 | Molecular Characterization of Stenotrophomonas maltophilia isolates from cystic fibrosis patients and the hospital environment显示文摘 | Marzuillo C De Giusti M Tufi D | 2009 | Infect Control Hosp Epidemiol2009，30，8： | 1 |
| 11 | Acute lobar nephritis in children: Not so easy to recognize and manage显示文摘Acute lobar nephritis(ALN) is a localized non-liquefactive inflammatory renal bacterial infection, which typically involves one or more lobes. ALN is considered to be a midpoint in the spectrum of upper urinary tract infection, a spectrum ranging from uncomplicated pyelonephritis to intrarenal abscess. This condition may be difficult to recognize due to the lack of specific symptoms and laboratory findings. Therefore the disease is probably underdiagnosed. Computed tomography scanning represents the diagnostic gold standard for ALN, but magnetic resonance imagine could be considered in order to limit irradiation. The diagnosis is relevant since initial intravenous antibiotic therapy and overall length of treatment should not be shorter than 3 wk. We review the literature and analyze the ALN clinical presentation starting from four cases with the aim to give to the clinicians the elements to suspect and recognize the ALN in children. | Cristina Bibalo Andrea Apicella Veronica Guastalla Pierluigi Marzuillo Floriana Zennaro Carmela Tringali Andrea Taddio Claudio Germani Egidio Barbi | 2016 | World Journal of Clinical Pediatrics2016，5，1： | 1 |
| 12 | Dehydrated patient without clinically evident cause:A case report显示文摘BACKGROUND Patients affected by cystic fibrosis can present with metabolic alkalosis such as Bartter's syndrome.In this case report we want to underline this differential diagnosis and we aimed focusing on the suspect of cystic fibrosis,also in case of a negative newborn screening.CASE SUMMARY In a hot August–with a mean environmental temperature of 36℃–an 8-mo-old female patient presented with severe dehydration complicated by hypokalemic metabolic alkalosis,in absence of fever,diarrhea and vomiting.Differential diagnosis between cystic fibrosis and tubulopathies causing metabolic alkalosis(Bartter's Syndrome)was considered.We started intravenous rehydration with subsequent improvement of clinical conditions and serum electrolytes normalization.We diagnosed a mild form of cystic fibrosis(heterozygous mutations:G126 D and F508 del in the cystic fibrosis transmembrane conductance regulator gene).The trigger factor of this condition had been heat exposure.CONCLUSION When facing a patient with hypokalemic metabolic alkalosis,cystic fibrosis presenting with Pseudo-Bartter's syndrome should be considered in the differential diagnosis,even if the newborn screening was negative. | Federica Palladino Maria Cristina Fedele Marianna Casertano Laura Liguori Tiziana Esposito Stefano Guarino Emanuele Miraglia del Giudice Pierluigi Marzuillo | 2020 | World Journal of Clinical Cases2020，8，20： | 1 |
| 13 | Weight loss allows the dissection of the interaction between abdominal fat and PNPLA3 (adiponutrin) in the liver damage of obese children显示文摘 | Pierluigi Marzuillo Anna Grandone Laura Perrone Emanuele Miraglia del Giudice | 2013 | Journal of Hepatology2013，，： | 1 |
| 14 | Novel cAMP binding proteirr+Bf(CREBBP)mutation in a girl with Rubinstein-Taybi syndrome,GH deficiency,Arnold Chiari malformation and pituitary hypoplasia 显示文摘 | Marzuillo P Grandone A Coppola R | 2013 | BMC Med Genet2013，14，： | 1 |
| 15 | Skin disease and thyroid autoimmunity in atopic South Italian children显示文摘AIM:To verify the prevalence of thyroid autoimmunity(TA) and the possible association between atopy and TA in children affected by skin disease.METHODS:Three hundred and twenty-four children consecutively referred due to skin disease symptoms to our Pediatric Department were enrolled.One hundred and eighty-seven were diagnosed with atopic dermatitis(AD),95 with acute urticaria,40 with chronic urticaria(CU),and 2 with alopecia areata(AA).According to the work-up for atopy,the children were divided into two groups:Atopics and non-atopics.TA was diagnosed by serum thyroid peroxidase autoantibodies and/or thyroglobulin autoantibodies levels more than twice normal values over a period of two months by immunoassay.RESULTS:In all children with skin disease,a significant prevalence of TA in atopies compared with non-atopies(13.67%vs 2.67%,P=0.0016) and a significant association between TA and atopy(OR=5.76,95%CI:1.71-19.35) were observed.These findings were confirmed as significant in children with AD:TA in atopies was 11.5%,while TA in non-atopies was2.7%(P=0.03,OR=4.68,95%CI:1.02-21.38).In addition,atopics with CU showed a significantly higher prevalence of TA(26.9%),but none of the non-atopics showed CU(P=0.0326).On the other hand,atopies with AA showed a 100%(2 out of 2) prevalence of TA,compared with none of the non-atopies.CONCLUSION:In children with skin disease,atopy seems to be associated with an increased risk of TA. | Marcella Pedullà Vincenzo Fierro Pierluigi Marzuillo Francesco Capuano Emanuele Miraglia del Giudice Eleonora Ruocco | 2016 | World Journal of Clinical Pediatrics2016，5，3： | 1 |
| 16 | Advances in pediatric non-alcoholic fatty liver disease: From genetics to lipidomics显示文摘As a result of the obesity epidemic,non-alcoholic fatty liver disease(NAFLD)represents a global medical concern in childhood with a closely related increased cardiometabolic risk.Knowledge on NAFLD pathophysiology has been largely expanded over the last decades.Besides the well-known key NAFLD genes(including the I148M variant of the PNPLA3 gene,the E167K allele of the TM6SF2,the GCKR gene,the MBOAT7-TMC4 rs641738 variant,and the rs72613567:TA variant in the HSD17B13 gene),an intriguing pathogenic role has also been demonstrated for the gut microbiota.More interestingly,evidence has added new factors involved in the“multiple hits”theory.In particular,omics determinants have been highlighted as potential innovative markers for NAFLD diagnosis and treatment.In fact,different branches of omics including metabolomics,lipidomics(in particular sphingolipids and ceramides),transcriptomics(including micro RNAs),epigenomics(such as DNA methylation),proteomics,and glycomics represent the most attractive pathogenic elements in NAFLD development,by providing insightful perspectives in this field.In this perspective,we aimed to provide a comprehensive overview of NAFLD pathophysiology in children,from the oldest pathogenic elements(including genetics)to the newest intriguing perspectives(such as omics branches). | Simona Riccio Rosa Melone Caterina Vitulano Pierfrancesco Guida Ivan Maddaluno Stefano Guarino Pierluigi Marzuillo Emanuele Miraglia del Giudice Anna Di Sessa | 2022 | World Journal of Clinical Pediatrics2022，11，3： | 1 |
| 17 | Oral contraceptives and venous thromboembolismt a systematic review and meta-analysis显示文摘 | MANZOLI L DE VITO C MARZUILLO C | 2012 | Drug Saf2012，35，3： | 1 |
| 18 | Telemedicine in the COVID-19 era:Taking care of children with obesity and diabetes mellitus显示文摘Severe acute respiratory syndrome coronavirus 2 infection was declared a pandemic in January 2020.Since then,several measures to limit virus transmission have been imposed;among them,home confinement has been the most severe,with drastic changes in the daily routines of the general population.The“stay at home”rule has impaired healthcare service access,and patients with chronic conditions were the most exposed to the negative effects of this limitation.There is strong evidence of the worsening of obesity and diabetes mellitus in children during this period.To overcome these issues,healthcare providers have changed their clinical practice to ensure follow-up visits and medical consultation though the use of telemedicine.Telemedicine,including telephone calls,videocalls,data platforms of shared telemedicine data platforms mitigated the negative effect of pandemic restrictions.Published evidence has documented good metabolic control and weight management outcomes in centers that performed extensive telemedicine services last year during the pandemic.This review discusses studies that investigated the use of telemedicine tools for the management of pediatric obesity and diabetes. | Giuseppina Rosaria Umano Anna Di Sessa Stefano Guarino Giuseppina Gaudino Pierluigi Marzuillo Emanuele Miraglia del Giudice | 2021 | World Journal of Diabetes2021，12，5： | 1 |
| 19 | Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome,GH deficiency,Arnold Chiari malformation and pituitary hypoplasia显示文摘 | Marzuillo P Locher K Meinecke P | 2013 | BMC Med Genet2013，23，： | 1 |
| 20 | Knowledge, attitudes and behavior of physicians regarding predictive gentic tests for breast and colorectal cancer显示文摘 | Marzuillo C De Vito C Boccia S | 2013 | Prev Med2013，57，5： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员