Recommendations for probiotics are available in several regions.This paper proposes recommendations for probiotics in pediatric gastrointestinal diseases in the Asia-Pacific region.Epidemiology and clinical patterns o...Recommendations for probiotics are available in several regions.This paper proposes recommendations for probiotics in pediatric gastrointestinal diseases in the Asia-Pacific region.Epidemiology and clinical patterns of intestinal diseases in Asia-Pacific countries were discussed.Evidence-based recommendations and randomized controlled trials in the region were revised.Cultural aspects,health management issues and economic factors were also considered.Final recommendations were approved by applying the Likert scale and rated using the GRADE system.Saccharomyces boulardii CNCM I-745(Sb)and Lactobacillus rhamnosus GG(LGG)were strongly recommended as adjunct treatment to oral rehydration therapy for gastroenteritis.Lactobacillus reuteri could also be considered.Probiotics may be considered for prevention of(with the indicated strains):antibiotic-associated diarrhea(LGG or Sb);Clostridium difficile-induced diarrhea(Sb);nosocomial diarrhea(LGG);infantile colic(L reuteri)and as adjunct treatment of Helicobacter pylori(Sb and others).Specific probiotics with a history of safe use in preterm and term infants may be considered in infants for prevention of necrotizing enterocolitis.There is insufficient evidence for recommendations in other conditions.Despite a diversity of epidemiological,socioeconomical and health system conditions,similar recommendations apply well to Asia pacific countries.These need to be validated with local randomized-controlled trials.展开更多
There are many causes of gastrointestinal bleeding(GIB)in children,and this condition is not rare,having a reported incidence of 6.4%.Causes vary with age,but show considerable overlap;moreover,while many of the cause...There are many causes of gastrointestinal bleeding(GIB)in children,and this condition is not rare,having a reported incidence of 6.4%.Causes vary with age,but show considerable overlap;moreover,while many of the causes in the pediatric population are similar to those in adults,some lesions are unique to children.The diagnostic approach for pediatric GIB includes definition of the etiology,localization of the bleeding site and determination of the severity of bleeding;timely and accurate diagnosis is necessary to reduce morbidity and mortality.To assist medical care providers in the evaluation and management of children with GIB,the"Gastro-Ped Bleed Team"of the Italian Society of Pediatric Gastroenterology,Hepatology and Nutrition(SIGENP)carried out a systematic search on MEDLINE via Pub Med(http://www.ncbi.nlm.nih.gov/pubmed/)to identify all articles published in English from January 1990 to 2016;the following key words were used to conduct the electronic search:"upper GIB"and"pediatric"[all fields];"lower GIB"and"pediatric"[all fields];"obscure GIB"and"pediatric"[all fields];"GIB"and"endoscopy"[all fields];"GIB"and"therapy"[all fields].The identified publications included articles describing randomized controlled trials,reviews,case reports,cohort studies,casecontrol studies and observational studies.References from the pertinent articles were also reviewed.This paper expresses a position statement of SIGENP that can have an immediate impact on clinical practice and for which sufficient evidence is not available in literature.The experts participating in this effort were selected according to their expertise and professional qualifications.展开更多
Background Aicardi-Goutières syndrome(AGS)is a genetically determined disorder with a variable phenotype.Since the original description of AGS,advances in gene sequencing techniques have resulted in a significant...Background Aicardi-Goutières syndrome(AGS)is a genetically determined disorder with a variable phenotype.Since the original description of AGS,advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes,and new clinical pictures have emerged beyond the classic presentation.The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies.Data sources Literature reviews and original research articles were collected from databases,including PubMed and Clini-calTrials.gov.Relevant articles about AGS were included.Results The involvement of the nervous system certainly represents the major cause of mortality and morbidity in AGS patients.However,other clinical manifestations,such as chilblains,hepatosplenomegaly,and hematological disturbances,may lead to the diagnosis and considerably impact the prognosis and overall quality of life of these patients.Therapeutic approaches of AGS are limited to interventions aimed at specific symptoms and the management of multiple comorbidities.However,advances in understanding the pathogenesis of AGS could open new and more effective therapies.Conclusions The over-activation of innate immunity due to upregulated interferon production plays a critical role in AGS,leading to multi-organ damage with the main involvement of the central nervous system.To date,there is no specific and effective treatment for AGS.New drugs specifically targeting the interferon pathway may bring new hope to AGS patients.展开更多
Background:Congenital tufting enteropathy(CTE),an inherited autosomal recessive rare disease,is a severe diarrhea of infancy which is clinically characterized by absence of infl ammation and presence of intestinal vil...Background:Congenital tufting enteropathy(CTE),an inherited autosomal recessive rare disease,is a severe diarrhea of infancy which is clinically characterized by absence of infl ammation and presence of intestinal villous atrophy.Mutations in the EpCAM gene were identified to cause CTE.Recent cases of syndromic tufting enteropathy harboring the SPINT2(19q13.2)mutation were described.Methods:Four CTE Italian patients were clinically and immunohistochemically characterized.Direct DNA sequencing of EpCAM and SPINT2 genes was performed.Results:All patients were of Italian origin.Three different mutations were detected(p.Asp219Metfs*15,Tyr186Phefs*6 and p.Ile146Asn)in the EpCAM gene;one of them is novel(p.Ile146Asn).Two patients(P1 and P2)showed compound heterozygosity revealing two mutations in separate alleles.A third patient(P3)was heterozygous for only one novel EpCAM missense mutation(p.Ile146Asn).In a syndromic patient(P4),no deleterious EpCAM mutation was found.Additional SPINT2 mutational analysis was performed.P4 showed a homozygous SPINT2 mutation(p.Y163C).No SPINT2 mutation was found in P3.CLDN7 was also evaluated as a candidate gene by mutational screening in P3 but no mutation was identifi ed.Conclusions:This study presented a molecular characterization of CTE Italian patients,and identified three mutations in the EpCAM gene and one in the SPINT2 gene.One of EpCAM mutations was novel,therefore increasing the mutational spectrum of allelic variants of the EpCAM gene.Molecular analysis of the SPINT2 gene also allowed us to identify a SPINT2 substitution mutation(c.488A>G)recently found to be associated with syndromic CTE subjects.展开更多
Artificial intelligence(AI)is promising for supporting and optimizing clinical practice in various fields while simultaneously arousing excitement and concerns about its benefits and limitations[1].Even in the field o...Artificial intelligence(AI)is promising for supporting and optimizing clinical practice in various fields while simultaneously arousing excitement and concerns about its benefits and limitations[1].Even in the field of epilepsy,the application of AI techniques has enabled the development of highly relevant tools for both diagnostic and therapeutic purposes.In particular,the diagnostic domain is on the verge of benefiting from AI-assisted tools that can enhance already widely utilized methodologies,such as electroencephalogram(EEG)pattern analysis,neuroimaging data interpretation and the integration of wearable or remote monitoring devices.展开更多
Autonomic nervous system dysfunction has been described with focal and generalized epileptic seizures;occurring during their ictal,interictal,or postictal states.International League Against Epilepsy Seizure Classific...Autonomic nervous system dysfunction has been described with focal and generalized epileptic seizures;occurring during their ictal,interictal,or postictal states.International League Against Epilepsy Seizure Classification Manual defines autonomic seizures as a distinct alteration of autonomic nervous system function involving cardiovascular,pupillary,gastrointestinal,sudomotor,vasomotor,and thermoregulatory functions.Autonomic seizures represent a great challenge for neonatologists and neurophysiologists;and distinguishing between ictal and non-ictal autonomic changes in neonates is rarely straightforward,especially in the premature ones.To avoid overdiagnosis and overtreatment,International League Against Epilepsy and the American Clinical Neurophysiology Society currently require electrographic correlation for any seizure diagnosis,including preterm neonates.There is very little scientific evidence about the pathophysiology of autonomic seizures.The data reporting on their incidence,clinical features,and diagnostic pathway is also insufficient.In this paper,we hypothesize that in the developing brain of preterm neonates,seizures involving deeper autonomic networks and subcortical structures might not propagate sufficiently to the cortex,and therefore the association of the seizures with specific ictal electrographic changes on surface electroencephalogram might be lacking.We propose considering autonomic seizures in the differential diagnosis of unexplained autonomic changes in neonates,especially preterm neonates,even in the absence of clear initial electrographic correlation.Unexplained autonomic changes could therefore be thought of as a“seizure alarm”in this population.展开更多
基金Supported by a medical educational grant from Biocodex,France
文摘Recommendations for probiotics are available in several regions.This paper proposes recommendations for probiotics in pediatric gastrointestinal diseases in the Asia-Pacific region.Epidemiology and clinical patterns of intestinal diseases in Asia-Pacific countries were discussed.Evidence-based recommendations and randomized controlled trials in the region were revised.Cultural aspects,health management issues and economic factors were also considered.Final recommendations were approved by applying the Likert scale and rated using the GRADE system.Saccharomyces boulardii CNCM I-745(Sb)and Lactobacillus rhamnosus GG(LGG)were strongly recommended as adjunct treatment to oral rehydration therapy for gastroenteritis.Lactobacillus reuteri could also be considered.Probiotics may be considered for prevention of(with the indicated strains):antibiotic-associated diarrhea(LGG or Sb);Clostridium difficile-induced diarrhea(Sb);nosocomial diarrhea(LGG);infantile colic(L reuteri)and as adjunct treatment of Helicobacter pylori(Sb and others).Specific probiotics with a history of safe use in preterm and term infants may be considered in infants for prevention of necrotizing enterocolitis.There is insufficient evidence for recommendations in other conditions.Despite a diversity of epidemiological,socioeconomical and health system conditions,similar recommendations apply well to Asia pacific countries.These need to be validated with local randomized-controlled trials.
基金Supported by the Italian Society of Pediatric Gastroenterology,Hepatology and Nutrition
文摘There are many causes of gastrointestinal bleeding(GIB)in children,and this condition is not rare,having a reported incidence of 6.4%.Causes vary with age,but show considerable overlap;moreover,while many of the causes in the pediatric population are similar to those in adults,some lesions are unique to children.The diagnostic approach for pediatric GIB includes definition of the etiology,localization of the bleeding site and determination of the severity of bleeding;timely and accurate diagnosis is necessary to reduce morbidity and mortality.To assist medical care providers in the evaluation and management of children with GIB,the"Gastro-Ped Bleed Team"of the Italian Society of Pediatric Gastroenterology,Hepatology and Nutrition(SIGENP)carried out a systematic search on MEDLINE via Pub Med(http://www.ncbi.nlm.nih.gov/pubmed/)to identify all articles published in English from January 1990 to 2016;the following key words were used to conduct the electronic search:"upper GIB"and"pediatric"[all fields];"lower GIB"and"pediatric"[all fields];"obscure GIB"and"pediatric"[all fields];"GIB"and"endoscopy"[all fields];"GIB"and"therapy"[all fields].The identified publications included articles describing randomized controlled trials,reviews,case reports,cohort studies,casecontrol studies and observational studies.References from the pertinent articles were also reviewed.This paper expresses a position statement of SIGENP that can have an immediate impact on clinical practice and for which sufficient evidence is not available in literature.The experts participating in this effort were selected according to their expertise and professional qualifications.
基金Universita degli Studi di Perugia within the CRUI-CARE agreement.
文摘Background Aicardi-Goutières syndrome(AGS)is a genetically determined disorder with a variable phenotype.Since the original description of AGS,advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes,and new clinical pictures have emerged beyond the classic presentation.The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies.Data sources Literature reviews and original research articles were collected from databases,including PubMed and Clini-calTrials.gov.Relevant articles about AGS were included.Results The involvement of the nervous system certainly represents the major cause of mortality and morbidity in AGS patients.However,other clinical manifestations,such as chilblains,hepatosplenomegaly,and hematological disturbances,may lead to the diagnosis and considerably impact the prognosis and overall quality of life of these patients.Therapeutic approaches of AGS are limited to interventions aimed at specific symptoms and the management of multiple comorbidities.However,advances in understanding the pathogenesis of AGS could open new and more effective therapies.Conclusions The over-activation of innate immunity due to upregulated interferon production plays a critical role in AGS,leading to multi-organ damage with the main involvement of the central nervous system.To date,there is no specific and effective treatment for AGS.New drugs specifically targeting the interferon pathway may bring new hope to AGS patients.
基金supported by Pediatrics Residency Program at University of Foggia.
文摘Background:Congenital tufting enteropathy(CTE),an inherited autosomal recessive rare disease,is a severe diarrhea of infancy which is clinically characterized by absence of infl ammation and presence of intestinal villous atrophy.Mutations in the EpCAM gene were identified to cause CTE.Recent cases of syndromic tufting enteropathy harboring the SPINT2(19q13.2)mutation were described.Methods:Four CTE Italian patients were clinically and immunohistochemically characterized.Direct DNA sequencing of EpCAM and SPINT2 genes was performed.Results:All patients were of Italian origin.Three different mutations were detected(p.Asp219Metfs*15,Tyr186Phefs*6 and p.Ile146Asn)in the EpCAM gene;one of them is novel(p.Ile146Asn).Two patients(P1 and P2)showed compound heterozygosity revealing two mutations in separate alleles.A third patient(P3)was heterozygous for only one novel EpCAM missense mutation(p.Ile146Asn).In a syndromic patient(P4),no deleterious EpCAM mutation was found.Additional SPINT2 mutational analysis was performed.P4 showed a homozygous SPINT2 mutation(p.Y163C).No SPINT2 mutation was found in P3.CLDN7 was also evaluated as a candidate gene by mutational screening in P3 but no mutation was identifi ed.Conclusions:This study presented a molecular characterization of CTE Italian patients,and identified three mutations in the EpCAM gene and one in the SPINT2 gene.One of EpCAM mutations was novel,therefore increasing the mutational spectrum of allelic variants of the EpCAM gene.Molecular analysis of the SPINT2 gene also allowed us to identify a SPINT2 substitution mutation(c.488A>G)recently found to be associated with syndromic CTE subjects.
文摘Artificial intelligence(AI)is promising for supporting and optimizing clinical practice in various fields while simultaneously arousing excitement and concerns about its benefits and limitations[1].Even in the field of epilepsy,the application of AI techniques has enabled the development of highly relevant tools for both diagnostic and therapeutic purposes.In particular,the diagnostic domain is on the verge of benefiting from AI-assisted tools that can enhance already widely utilized methodologies,such as electroencephalogram(EEG)pattern analysis,neuroimaging data interpretation and the integration of wearable or remote monitoring devices.
文摘Autonomic nervous system dysfunction has been described with focal and generalized epileptic seizures;occurring during their ictal,interictal,or postictal states.International League Against Epilepsy Seizure Classification Manual defines autonomic seizures as a distinct alteration of autonomic nervous system function involving cardiovascular,pupillary,gastrointestinal,sudomotor,vasomotor,and thermoregulatory functions.Autonomic seizures represent a great challenge for neonatologists and neurophysiologists;and distinguishing between ictal and non-ictal autonomic changes in neonates is rarely straightforward,especially in the premature ones.To avoid overdiagnosis and overtreatment,International League Against Epilepsy and the American Clinical Neurophysiology Society currently require electrographic correlation for any seizure diagnosis,including preterm neonates.There is very little scientific evidence about the pathophysiology of autonomic seizures.The data reporting on their incidence,clinical features,and diagnostic pathway is also insufficient.In this paper,we hypothesize that in the developing brain of preterm neonates,seizures involving deeper autonomic networks and subcortical structures might not propagate sufficiently to the cortex,and therefore the association of the seizures with specific ictal electrographic changes on surface electroencephalogram might be lacking.We propose considering autonomic seizures in the differential diagnosis of unexplained autonomic changes in neonates,especially preterm neonates,even in the absence of clear initial electrographic correlation.Unexplained autonomic changes could therefore be thought of as a“seizure alarm”in this population.
