AIM:To assess the safety and utility of capsule endoscopy(CE)for children who are unable to swallow the capsule endoscope.METHODS:The medical records of all of the children who underwent CE between 2010 and 2012 were ...AIM:To assess the safety and utility of capsule endoscopy(CE)for children who are unable to swallow the capsule endoscope.METHODS:The medical records of all of the children who underwent CE between 2010 and 2012 were retrospectively reviewed.The patients were divided into 2groups:group A included patients who were unable to swallow the capsule endoscope,and group B included patients who were able to swallow it.For the patients who were unable to swallow the capsule endoscope,it was placed in the duodenum endoscopically.The small bowel transit time,endoscopic diagnosis and complications of the 2 groups were compared.RESULTS:During the study period,28 CE procedures were performed in 26 patients.Group A included 11patients with a median age of 2 years(range 10 mo-9years),and group B included 15 patients with a median age of 12 years(range 8 years-16 years).The lightest child in the study weighed 7.9 kg.The detection rates did not differ between the 2 groups.The median small bowel transit time was 401 min(range 264-734 min)in group A and 227 min(range 56-512 min)in group B(P=0.0078).No serious complications,including capsule retention,occurred.No significant mucosal trauma occurred in the pharynx,esophagus,stomach or duodenum when the capsule was introduced using an endoscope.CONCLUSION:CE is a safe and useful procedure for infants and young children who are unable to swallow the capsule endoscope.展开更多
BACKGROUND Castleman's disease(CD)is a lymphoproliferative disorder.TAFRO syndrome is classified as a variant of CD based on its key clinical manifestations of thrombocytopenia,anasarca(generalized edema and pleur...BACKGROUND Castleman's disease(CD)is a lymphoproliferative disorder.TAFRO syndrome is classified as a variant of CD based on its key clinical manifestations of thrombocytopenia,anasarca(generalized edema and pleural effusion),fever(pyrexia),reticulin fibrosis in the bone marrow and the proliferation of megakaryocytes,and organomegaly(such as hepatosplenomegaly and multiple lymphadenopathies);TAFRO syndrome is mainly reported in Japanese patients.To our knowledge,this is the first pediatric case report detailing a CD-associated disorder progressing to cirrhosis.CASE SUMMARY A 10-year old male patient presented with fever and anemia.Six months before hospitalization,he had remarkable abdominal distention.Subsequently,he visited a clinic for a fever that lasted 5 d.The physical findings were marked hepatosplenomegaly and cervical lymphadenopathy.A blood test revealed leukocytosis,microcytic anemia,aspartate aminotransferase-dominant transaminase elevation,high levels of C-reactive protein,polyclonal hypergammaglobulinemia,and high levels of interleukin-6 and vascular endothelial growth factor.Abdominal contrast computed tomography and magnetic resonance imaging suggested cirrhosis,which was confirmed by liver histology.Histological findings in the enlarged hepatic lymph nodes revealed both hyperplasia and atrophy of lymphoid follicles with some vascular hyperplasia and moderate plasmacytosis between the lymphoid follicles,which is compatible with lymph node histology in TAFRO syndrome.Prednisolone was not effective in reducing the patient’s symptoms;therefore,the patient was prescribed tocilizumab.To date,the patient remains free of fever and continues to receive tocilizumab.CONCLUSION We described the clinicopathological features of TAFRO syndrome to highlight the clinical presentation of this rare disease in a pediatric case.展开更多
AIM To screen primary immunodeficiency,Wiskott-Aldrich syndrome(WAS),and chronic granulomatous disease(CGD) among children with inflammatory bowel disease(IBD).METHODS This was a single-center retrospective study. Eig...AIM To screen primary immunodeficiency,Wiskott-Aldrich syndrome(WAS),and chronic granulomatous disease(CGD) among children with inflammatory bowel disease(IBD).METHODS This was a single-center retrospective study. Eighteen children with IBD were investigated. We analyzed their expression of Wiskott-Aldrich syndrome protein(WASP) in lymphocytes and superoxide generation in phagocytes using flow cytometry. When the expression of WASP or superoxide generation was low or absent,we performed genetic analysis to determine the cause of this. RESULTS Eighteen patients were classified as having ulcerative colitis(n = 10),Crohn's disease(n = 5),or IBDunclassified(n = 3). In total,three patients revealed low expression of WASP associated with a WAS gene c.1378 C>T p.Pro460 Ser mutation,which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. However,with respect to the major symptoms of WAS,none of these three patients showed either thrombocytopenia or increased susceptibility to infection,but one patient showed generalized eczema. No CGD patients were discovered in this study.CONCLUSION Despite the lack of typical clinical manifestations of WAS,low expression of WASP could be associated with the pathogenesis of a subtype of IBD patients.展开更多
Ascaris lumbricoides infection is rare among children in developed countries.Although large numbers of adult Ascaris in the small intestine can cause various abdominal symptoms,this infection remains asymptomatic unti...Ascaris lumbricoides infection is rare among children in developed countries.Although large numbers of adult Ascaris in the small intestine can cause various abdominal symptoms,this infection remains asymptomatic until the number of worms in the intestine considerably increases in most cases.Ascaris causing bilious vomiting suggesting ileus is rare,especially in developed countries.A 6-year-old boy who lived in Japan,presented with abdominal colic,bilious vomiting at the pediatric emergency room.He appeared pale,and had no abdominal distention,tenderness,palpable abdominal mass,or findings of dehydration.He experienced bilious vomiting again during a physical examination.Laboratory tests showed mild elevation of white blood cells and C-reactive protein levels.Antigens of adenovirus,rotavirus,and norovirus were not detected from his stool,and stool culture showed normal flora.Ultrasonography showed multiple,round-shaped structures within the small intestine,and a tubular structure in a longitudinal scan of the small intestine.Capsule endoscopy showed a moving worm of Ascaris in the jejunum.Intestinal ascariasis should be considered as a cause of bilious vomiting in children,even at the emergency room in industrial countries.Ultrasound examination and capsule endoscopy are useful for diagnosis of pediatric intestinal ascariasis.展开更多
Background and Aims: The liver is the first organ affected by toxic copper in the classical and severe hepatic forms of Wilson's disease(WD).Because their associated chronic liver damage is mostly asymptomatic,an ...Background and Aims: The liver is the first organ affected by toxic copper in the classical and severe hepatic forms of Wilson's disease(WD).Because their associated chronic liver damage is mostly asymptomatic,an intervention using a special test including serum alanine aminotransferase(ALT)activity is needed for detecting WD.Methods: Using the modified international criteria for the diagnosis of WD,45 patients were selected from the collective databases of our institutions,and 7 infants were reviewed from the literature.Two patients had the severe hepatic form,with nor-moceruloplasminemia and no mutations in ATP7B.The rapid ALT change during hemolytic anemia was adjusted for a baseline.The diagnostic potential of the ALT test was assessed from the age-dependent natural course of the liver damage of WD.Results: The natural course had three stages.ALTs were still low in some infants younger than 4 years-old.They were high in all children between the ages of 4 and 8 years-old;then,they reduced to low levels in some patients over 9 years of age.The high ALT stage represents chronic active hepatitis,and the sub-sequent low ALT stage is due to silent cirrhosis.The hepatic cop-per content is a reliable but invasive test,while urinary copper secretion is an alternative,non-invasive test for copper toxicosis of WD.The serum ceruloplasmin and ATP7B analyses are sub-type tests of WD.The response to anti-copper regimens is the final test result.Conclusions: ALTcould be the first parameter to test to detect WD in children between the ages of 4 and 8 years.展开更多
Mutations in MPV17 lead to severe mitochondrial DNA depletion syndrome(MTDPS).All known p.R50W variants in MPV17 are lethal.The homozygous variant p.R50Q in MPV17 among patients with Navajo neurohepatopathy is known t...Mutations in MPV17 lead to severe mitochondrial DNA depletion syndrome(MTDPS).All known p.R50W variants in MPV17 are lethal.The homozygous variant p.R50Q in MPV17 among patients with Navajo neurohepatopathy is known to allow longer survival,although heterozygous variants p.R50Q have not been reported.This is the first clinical report in compound heterozygosity MPV17 mutation(p.R50W/p.R50Q).Three siblings were admitted due to multiple hepatic nodules;none presented neurological abnormalities.However,they suffered from severe hypoglycemia and cyclic vomiting.The diagnosis of MPV17-related MTDPS was confirmed by detection of a compound heterozygous MPV17 mutation(p.R50W/p.R50Q),and striking reduction of hepatic mitochondrial DNA.One patient developed pediatric-onset of hepatocellular carcinoma.Notably,all patients survived for extended periods,including two patients who received liver transplantation,which contrasted the high mortality rate associated with p.R50W mutations,as previously reported.The p.R50Q mutation might be associated with longer survival and improved liver transplantation outcomes.展开更多
文摘AIM:To assess the safety and utility of capsule endoscopy(CE)for children who are unable to swallow the capsule endoscope.METHODS:The medical records of all of the children who underwent CE between 2010 and 2012 were retrospectively reviewed.The patients were divided into 2groups:group A included patients who were unable to swallow the capsule endoscope,and group B included patients who were able to swallow it.For the patients who were unable to swallow the capsule endoscope,it was placed in the duodenum endoscopically.The small bowel transit time,endoscopic diagnosis and complications of the 2 groups were compared.RESULTS:During the study period,28 CE procedures were performed in 26 patients.Group A included 11patients with a median age of 2 years(range 10 mo-9years),and group B included 15 patients with a median age of 12 years(range 8 years-16 years).The lightest child in the study weighed 7.9 kg.The detection rates did not differ between the 2 groups.The median small bowel transit time was 401 min(range 264-734 min)in group A and 227 min(range 56-512 min)in group B(P=0.0078).No serious complications,including capsule retention,occurred.No significant mucosal trauma occurred in the pharynx,esophagus,stomach or duodenum when the capsule was introduced using an endoscope.CONCLUSION:CE is a safe and useful procedure for infants and young children who are unable to swallow the capsule endoscope.
基金Kazuyuki Yoshizaki,Department of Organic Fine Chemicals,The Institute of Scientific and Industrial Research,Osaka University,Osaka,Japan.Masaru Kojima,Department of Diagnostic Pathology,Dokkyo Medical University School of Medicine,Tochigi,Japan.
文摘BACKGROUND Castleman's disease(CD)is a lymphoproliferative disorder.TAFRO syndrome is classified as a variant of CD based on its key clinical manifestations of thrombocytopenia,anasarca(generalized edema and pleural effusion),fever(pyrexia),reticulin fibrosis in the bone marrow and the proliferation of megakaryocytes,and organomegaly(such as hepatosplenomegaly and multiple lymphadenopathies);TAFRO syndrome is mainly reported in Japanese patients.To our knowledge,this is the first pediatric case report detailing a CD-associated disorder progressing to cirrhosis.CASE SUMMARY A 10-year old male patient presented with fever and anemia.Six months before hospitalization,he had remarkable abdominal distention.Subsequently,he visited a clinic for a fever that lasted 5 d.The physical findings were marked hepatosplenomegaly and cervical lymphadenopathy.A blood test revealed leukocytosis,microcytic anemia,aspartate aminotransferase-dominant transaminase elevation,high levels of C-reactive protein,polyclonal hypergammaglobulinemia,and high levels of interleukin-6 and vascular endothelial growth factor.Abdominal contrast computed tomography and magnetic resonance imaging suggested cirrhosis,which was confirmed by liver histology.Histological findings in the enlarged hepatic lymph nodes revealed both hyperplasia and atrophy of lymphoid follicles with some vascular hyperplasia and moderate plasmacytosis between the lymphoid follicles,which is compatible with lymph node histology in TAFRO syndrome.Prednisolone was not effective in reducing the patient’s symptoms;therefore,the patient was prescribed tocilizumab.To date,the patient remains free of fever and continues to receive tocilizumab.CONCLUSION We described the clinicopathological features of TAFRO syndrome to highlight the clinical presentation of this rare disease in a pediatric case.
文摘AIM To screen primary immunodeficiency,Wiskott-Aldrich syndrome(WAS),and chronic granulomatous disease(CGD) among children with inflammatory bowel disease(IBD).METHODS This was a single-center retrospective study. Eighteen children with IBD were investigated. We analyzed their expression of Wiskott-Aldrich syndrome protein(WASP) in lymphocytes and superoxide generation in phagocytes using flow cytometry. When the expression of WASP or superoxide generation was low or absent,we performed genetic analysis to determine the cause of this. RESULTS Eighteen patients were classified as having ulcerative colitis(n = 10),Crohn's disease(n = 5),or IBDunclassified(n = 3). In total,three patients revealed low expression of WASP associated with a WAS gene c.1378 C>T p.Pro460 Ser mutation,which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. However,with respect to the major symptoms of WAS,none of these three patients showed either thrombocytopenia or increased susceptibility to infection,but one patient showed generalized eczema. No CGD patients were discovered in this study.CONCLUSION Despite the lack of typical clinical manifestations of WAS,low expression of WASP could be associated with the pathogenesis of a subtype of IBD patients.
文摘Ascaris lumbricoides infection is rare among children in developed countries.Although large numbers of adult Ascaris in the small intestine can cause various abdominal symptoms,this infection remains asymptomatic until the number of worms in the intestine considerably increases in most cases.Ascaris causing bilious vomiting suggesting ileus is rare,especially in developed countries.A 6-year-old boy who lived in Japan,presented with abdominal colic,bilious vomiting at the pediatric emergency room.He appeared pale,and had no abdominal distention,tenderness,palpable abdominal mass,or findings of dehydration.He experienced bilious vomiting again during a physical examination.Laboratory tests showed mild elevation of white blood cells and C-reactive protein levels.Antigens of adenovirus,rotavirus,and norovirus were not detected from his stool,and stool culture showed normal flora.Ultrasonography showed multiple,round-shaped structures within the small intestine,and a tubular structure in a longitudinal scan of the small intestine.Capsule endoscopy showed a moving worm of Ascaris in the jejunum.Intestinal ascariasis should be considered as a cause of bilious vomiting in children,even at the emergency room in industrial countries.Ultrasound examination and capsule endoscopy are useful for diagnosis of pediatric intestinal ascariasis.
文摘Background and Aims: The liver is the first organ affected by toxic copper in the classical and severe hepatic forms of Wilson's disease(WD).Because their associated chronic liver damage is mostly asymptomatic,an intervention using a special test including serum alanine aminotransferase(ALT)activity is needed for detecting WD.Methods: Using the modified international criteria for the diagnosis of WD,45 patients were selected from the collective databases of our institutions,and 7 infants were reviewed from the literature.Two patients had the severe hepatic form,with nor-moceruloplasminemia and no mutations in ATP7B.The rapid ALT change during hemolytic anemia was adjusted for a baseline.The diagnostic potential of the ALT test was assessed from the age-dependent natural course of the liver damage of WD.Results: The natural course had three stages.ALTs were still low in some infants younger than 4 years-old.They were high in all children between the ages of 4 and 8 years-old;then,they reduced to low levels in some patients over 9 years of age.The high ALT stage represents chronic active hepatitis,and the sub-sequent low ALT stage is due to silent cirrhosis.The hepatic cop-per content is a reliable but invasive test,while urinary copper secretion is an alternative,non-invasive test for copper toxicosis of WD.The serum ceruloplasmin and ATP7B analyses are sub-type tests of WD.The response to anti-copper regimens is the final test result.Conclusions: ALTcould be the first parameter to test to detect WD in children between the ages of 4 and 8 years.
基金This study was supported by the following grants.Kei Murayama was supported by the Practical Research Project(19ek0109273,18ek0109177)
文摘Mutations in MPV17 lead to severe mitochondrial DNA depletion syndrome(MTDPS).All known p.R50W variants in MPV17 are lethal.The homozygous variant p.R50Q in MPV17 among patients with Navajo neurohepatopathy is known to allow longer survival,although heterozygous variants p.R50Q have not been reported.This is the first clinical report in compound heterozygosity MPV17 mutation(p.R50W/p.R50Q).Three siblings were admitted due to multiple hepatic nodules;none presented neurological abnormalities.However,they suffered from severe hypoglycemia and cyclic vomiting.The diagnosis of MPV17-related MTDPS was confirmed by detection of a compound heterozygous MPV17 mutation(p.R50W/p.R50Q),and striking reduction of hepatic mitochondrial DNA.One patient developed pediatric-onset of hepatocellular carcinoma.Notably,all patients survived for extended periods,including two patients who received liver transplantation,which contrasted the high mortality rate associated with p.R50W mutations,as previously reported.The p.R50Q mutation might be associated with longer survival and improved liver transplantation outcomes.
