BACKGROUND Celiac Disease(CD)is an immune-mediated disorder,in which the HLA immunogenetic background(DQ2 and DQ8 heterodimers)and environmental trigger(gluten)are well established.Indeed,both factors are necessary–b...BACKGROUND Celiac Disease(CD)is an immune-mediated disorder,in which the HLA immunogenetic background(DQ2 and DQ8 heterodimers)and environmental trigger(gluten)are well established.Indeed,both factors are necessary–but not sufficient–to develop CD.However,it is very likely that CD is underdiagnosed in both developing and developed countries,due to several aspects,including the fact that a lot of patients present mild and/or atypical symptoms,without the presence of any recognized risk factors.Therefore,the possibility and feasibility of widened screening strategies to identify CD patients are debated.AIM To provide further evidence of the main epidemiological importance of HLADQB1*02 allele in the population of CD patients.METHODS We performed a systematic search in PubMed,EMBASE,Cochrane,Web of Science and Scopus databases,in order to produce a systematic review assessing the carrier frequency of HLA-DQB1*02 allele in the celiac population.Following the PRISMA guidelines,we retrieved all the original articles describing CD patients’HLA-DQB1 genotype in such a way that could allow to assess the HLADQB1*02 carrier frequency among CD patients,along with the evidence of the appropriate diagnostic work-up to achieve a correct and final diagnosis of CD.RESULTS The final output of this systematic search in the medical literature consisted of 38 studies providing the appropriate HLA-DQB1 genotype information of the respective CD population.According to this systematic review,including a pool of 4945 HLA-DQ genotyped CD patients,the HLA-DQB1*02 carrier frequency was 94.94%,meaning that only 5.06%of CD patients were completely lacking this allelic variant.Interestingly,if we consider only the studies whereby the prevalence of CD patients affected with type 1 diabetes mellitus was supposed or clearly established to be very low,the frequency of non-HLA-DQB1*02 carriers among CD patients dropped to 3.65%.CONCLUSION Such a high carrier frequency of the HLA-DQB1*02 allelic variant(which is>95%-96%in CD patients without risk factors,like type 1 diabetes mellitus comorbidity)might be exploited to consider a cost-effective and widened screening approach.If a sustainable strategy could be implemented through a low-cost targeted genetic test to detect the individual presence of HLA-DQB1*02 allele,an appropriate algorithm for serological screening in individuals resulting to be genetically predisposed to CD,might be considered.展开更多
Allergic rhinitis affect 10%-20% of pediatric population and it is caused by the Ig E-sensitization to environmental allergens, most importantly grass pollens and house dust mites. Allergic rhinitis can influence pati...Allergic rhinitis affect 10%-20% of pediatric population and it is caused by the Ig E-sensitization to environmental allergens, most importantly grass pollens and house dust mites. Allergic rhinitis can influence patient's daily activity severely and may precede the development of asthma, especially if it is not diagnosed and treated correctly. In addition to subcutaneous immunotherapy, sublingual immunotherapy(SLIT) represents the only treatment being potentially able to cure allergic respiratory diseases, by modulating the immune system activity. This review clearly summarizes and analyzes the available randomized, double-blinded, placebo-controlled trials, which aimed at evaluating the effectiveness and the safety of grass pollen and house dust mite SLIT for the specific treatment of pediatric allergic rhinitis. Our analysis demonstrates the good evidence supporting the efficacy of SLIT for allergic rhinitis to grass pollens in children, whereas trials regarding pediatric allergic rhinitis to house dust mites present lower quality, although several studies supported its usefulness.展开更多
Celiac Disease(CD)had been considered uncommon in Asia for a long time.However,several studies suggested that,in the Indian subcontinent and Middle East countries,CD is present and as prevalent as in Western countries...Celiac Disease(CD)had been considered uncommon in Asia for a long time.However,several studies suggested that,in the Indian subcontinent and Middle East countries,CD is present and as prevalent as in Western countries.Outside these Asian regions,the information about the epidemiology of CD is still lacking or largely incomplete for different and variable reasons.Here,we discuss the epidemiological aspects and the diagnostic barriers in several Asian regions including China,Japan,Southeast Asia and Russia/Central Asia.In some of those regions,especially Russia and Central Asia,the prevalence of CD is very likely to be underestimated.Several factors may,to a different extent,contribute to CD underdiagnosis(and,thus,underestimation of its epidemiological burden),including the poor disease awareness among physicians and/or patients,limited access to diagnostic resources,inappropriate use or interpretation of the serological tests,absence of standardized diagnostic and endoscopic protocols,and insufficient expertise in histopathological interpretation.展开更多
Ordinary chronic pancreatitis is a well-known risk factor for pancreatic cancer,whereas such an association with autoimmune pancreatitis(AIP)is widely debated.Due to the rarity of the latter disorder,there are few spe...Ordinary chronic pancreatitis is a well-known risk factor for pancreatic cancer,whereas such an association with autoimmune pancreatitis(AIP)is widely debated.Due to the rarity of the latter disorder,there are few specific clinical and epidemiological studies investigating the relation between AIP and pancreatic cancer,which do not seem to support it.However,these studies are affected by several limitations and,therefore,a link between AIP(and,specifically,type 1 AIP)and pancreatic cancer cannot be ruled out definitively on this basis.Moreover,several immunopathological aspects of type 1 AIP and,in general,immunoglobulin G4-related disease can create an immunological context that may impair the tumoral immunosurveillance and promote the pancreatic carcinogenesis and its progression.In detail,Th2 immunological dominance,type 2 macrophage polarization and basophil infiltration observed in type 1 AIP,may play a permissive role in creating a favorable immunological environment for pancreatic carcinogenesis,in addition to the immunosuppressive therapies that can be used in these patients.展开更多
Acute acalculous cholecystitis(AAC) is the inflammatory disease of the gallbladder in the absence of gallstones. AAC is estimated to represent at least 50% to 70% of all cases of acute cholecystitis during childhood. ...Acute acalculous cholecystitis(AAC) is the inflammatory disease of the gallbladder in the absence of gallstones. AAC is estimated to represent at least 50% to 70% of all cases of acute cholecystitis during childhood. Although this pathology was originally described in critically ill or post-surgical patients, most pediatric cases have been observed during several infectious diseases. In addition to cases caused by bacterial and parasitic infections, most pediatric reports after 2000 described children developing AAC during viral illnesses(such as Epstein-Barr virus and hepatitis A virus infections). Moreover, some pediatric cases have been associated with several underlying chronic diseases and, in particular, with immune-mediated disorders. Here, we review the epidemiological aspects of pediatric AAC, and we discuss etiology, pathophysiology and clinical management, according to the cases reported in the medical literature.展开更多
Chronic rhinitis is a very common disease, as the prevalence in the general population resulted to be 40%. Allergic rhinitis has been considered to be the most frequent form of chronic rhinitis, as non-allergic rhinit...Chronic rhinitis is a very common disease, as the prevalence in the general population resulted to be 40%. Allergic rhinitis has been considered to be the most frequent form of chronic rhinitis, as non-allergic rhinitis has been estimated to account for 25%. However, several evidences suggested that non-allergic rhinitis have been underrated, especially in children. In pediatrics, the diagnostic definition of non-allergic rhinitis has been often limited to the exclusion of an allergic sensitization. Actually, local allergic rhinitis has been often misdiagnosed as well as mixed rhinitis has not been recognized in most cases. Nasal cytology is a diagnostic procedure being suitable for routine clinical practice with children and could be a very useful tool to characterize and diagnose non-allergic rhinitis, providing important clues for epidemiological analysis and clinical management.展开更多
Giant cell hepatitis(GCH)is characterized by large and multinucleated(syncytial)hepatocytes in the context of liver inflammation.Infantile GCH is typically associated with autoimmune hemolytic anemia in the absence of...Giant cell hepatitis(GCH)is characterized by large and multinucleated(syncytial)hepatocytes in the context of liver inflammation.Infantile GCH is typically associated with autoimmune hemolytic anemia in the absence of any other systemic or organ-specific autoimmune comorbidity.The etiology is unknown;concomitant viral infections(as potential trigger factors)have been identified in a few patients.The pathogenesis reportedly relies upon immune-mediated/autoimmune mechanisms.This condition should be considered in any infant developing Coombs-positive anemia;indeed,anemia usually precedes the development of hepatitis.The clinical course is usually aggressive without the appropriate immunosuppressive therapy,which may include steroids,conventional immunosuppressors(e.g.,azathioprine and cyclophosphamide as first-line treatments),intravenous immunoglobulin,and biologics(rituximab).Improvements in medical management(including the availability of rituximab)have significantly reduced the mortality of this condition in the last decade.展开更多
BACKGROUND Even though coronavirus 2019 disease(COVID-19)clinical course in children is much milder than in adults,pneumonia can occur in the pediatric population as well.Here,we reported a single-center pediatric cas...BACKGROUND Even though coronavirus 2019 disease(COVID-19)clinical course in children is much milder than in adults,pneumonia can occur in the pediatric population as well.Here,we reported a single-center pediatric case series of COVID-19 from Kazakhstan during the first wave of pandemic.AIM To analyze the main clinical and laboratory aspects in severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)positive and negative children diagnosed with pneumonia.METHODS This is a retrospective analysis of 54 children,who were medically assessed as close contacts of COVID-19 adults in their family setting,between June and September 2020.These children were all hospitalized:We compared the clinical and laboratory characteristics of children affected with pneumonia in the presence(group 1)or absence(group 2)of SARS-CoV-2 infection.RESULTS Overall,the main clinical manifestations at the admission were fever,cough,loss of appetite,fatigue/weakness,nasal congestion and/or rhinorrhea,and dyspnea.Based on the SARS-CoV-2 polymerase chain reaction(PCR)test,24 positive children with pneumonia(group 1)and 20 negative children with pneumonia(group 2)were identified;10 positive children did not show any radiological findings of pneumonia.No significant differences were found between the two pneumonia study groups for any clinical and laboratory parameters,except for C-reactive protein(CRP).Of course,both pneumonia groups showed increased CRP values;however,the COVID-19 pneumonia group 1 showed a significantly higher increase of CRP compared to group 2.CONCLUSION In our case series of children assessed for SARS-CoV-2 infection based on contact tracing,the acute inflammatory response and,in detail,CRP increase resulted to be more pronounced in COVID-19 children with pneumonia than in children with SARS-CoV-2-unrelated pneumonia.However,because of multiple limitations of this study,larger,controlled and more complete clinical studies are needed to verify this finding.展开更多
基金the Nazarbayev University Faculty Development Competitive Research Grant 2020-2022,No.240919FD3912.
文摘BACKGROUND Celiac Disease(CD)is an immune-mediated disorder,in which the HLA immunogenetic background(DQ2 and DQ8 heterodimers)and environmental trigger(gluten)are well established.Indeed,both factors are necessary–but not sufficient–to develop CD.However,it is very likely that CD is underdiagnosed in both developing and developed countries,due to several aspects,including the fact that a lot of patients present mild and/or atypical symptoms,without the presence of any recognized risk factors.Therefore,the possibility and feasibility of widened screening strategies to identify CD patients are debated.AIM To provide further evidence of the main epidemiological importance of HLADQB1*02 allele in the population of CD patients.METHODS We performed a systematic search in PubMed,EMBASE,Cochrane,Web of Science and Scopus databases,in order to produce a systematic review assessing the carrier frequency of HLA-DQB1*02 allele in the celiac population.Following the PRISMA guidelines,we retrieved all the original articles describing CD patients’HLA-DQB1 genotype in such a way that could allow to assess the HLADQB1*02 carrier frequency among CD patients,along with the evidence of the appropriate diagnostic work-up to achieve a correct and final diagnosis of CD.RESULTS The final output of this systematic search in the medical literature consisted of 38 studies providing the appropriate HLA-DQB1 genotype information of the respective CD population.According to this systematic review,including a pool of 4945 HLA-DQ genotyped CD patients,the HLA-DQB1*02 carrier frequency was 94.94%,meaning that only 5.06%of CD patients were completely lacking this allelic variant.Interestingly,if we consider only the studies whereby the prevalence of CD patients affected with type 1 diabetes mellitus was supposed or clearly established to be very low,the frequency of non-HLA-DQB1*02 carriers among CD patients dropped to 3.65%.CONCLUSION Such a high carrier frequency of the HLA-DQB1*02 allelic variant(which is>95%-96%in CD patients without risk factors,like type 1 diabetes mellitus comorbidity)might be exploited to consider a cost-effective and widened screening approach.If a sustainable strategy could be implemented through a low-cost targeted genetic test to detect the individual presence of HLA-DQB1*02 allele,an appropriate algorithm for serological screening in individuals resulting to be genetically predisposed to CD,might be considered.
文摘Allergic rhinitis affect 10%-20% of pediatric population and it is caused by the Ig E-sensitization to environmental allergens, most importantly grass pollens and house dust mites. Allergic rhinitis can influence patient's daily activity severely and may precede the development of asthma, especially if it is not diagnosed and treated correctly. In addition to subcutaneous immunotherapy, sublingual immunotherapy(SLIT) represents the only treatment being potentially able to cure allergic respiratory diseases, by modulating the immune system activity. This review clearly summarizes and analyzes the available randomized, double-blinded, placebo-controlled trials, which aimed at evaluating the effectiveness and the safety of grass pollen and house dust mite SLIT for the specific treatment of pediatric allergic rhinitis. Our analysis demonstrates the good evidence supporting the efficacy of SLIT for allergic rhinitis to grass pollens in children, whereas trials regarding pediatric allergic rhinitis to house dust mites present lower quality, although several studies supported its usefulness.
基金Nazarbayev University Faculty Development Competitive Research Grant 2020-2022,No.240919FD3912.
文摘Celiac Disease(CD)had been considered uncommon in Asia for a long time.However,several studies suggested that,in the Indian subcontinent and Middle East countries,CD is present and as prevalent as in Western countries.Outside these Asian regions,the information about the epidemiology of CD is still lacking or largely incomplete for different and variable reasons.Here,we discuss the epidemiological aspects and the diagnostic barriers in several Asian regions including China,Japan,Southeast Asia and Russia/Central Asia.In some of those regions,especially Russia and Central Asia,the prevalence of CD is very likely to be underestimated.Several factors may,to a different extent,contribute to CD underdiagnosis(and,thus,underestimation of its epidemiological burden),including the poor disease awareness among physicians and/or patients,limited access to diagnostic resources,inappropriate use or interpretation of the serological tests,absence of standardized diagnostic and endoscopic protocols,and insufficient expertise in histopathological interpretation.
文摘Ordinary chronic pancreatitis is a well-known risk factor for pancreatic cancer,whereas such an association with autoimmune pancreatitis(AIP)is widely debated.Due to the rarity of the latter disorder,there are few specific clinical and epidemiological studies investigating the relation between AIP and pancreatic cancer,which do not seem to support it.However,these studies are affected by several limitations and,therefore,a link between AIP(and,specifically,type 1 AIP)and pancreatic cancer cannot be ruled out definitively on this basis.Moreover,several immunopathological aspects of type 1 AIP and,in general,immunoglobulin G4-related disease can create an immunological context that may impair the tumoral immunosurveillance and promote the pancreatic carcinogenesis and its progression.In detail,Th2 immunological dominance,type 2 macrophage polarization and basophil infiltration observed in type 1 AIP,may play a permissive role in creating a favorable immunological environment for pancreatic carcinogenesis,in addition to the immunosuppressive therapies that can be used in these patients.
文摘Acute acalculous cholecystitis(AAC) is the inflammatory disease of the gallbladder in the absence of gallstones. AAC is estimated to represent at least 50% to 70% of all cases of acute cholecystitis during childhood. Although this pathology was originally described in critically ill or post-surgical patients, most pediatric cases have been observed during several infectious diseases. In addition to cases caused by bacterial and parasitic infections, most pediatric reports after 2000 described children developing AAC during viral illnesses(such as Epstein-Barr virus and hepatitis A virus infections). Moreover, some pediatric cases have been associated with several underlying chronic diseases and, in particular, with immune-mediated disorders. Here, we review the epidemiological aspects of pediatric AAC, and we discuss etiology, pathophysiology and clinical management, according to the cases reported in the medical literature.
文摘Chronic rhinitis is a very common disease, as the prevalence in the general population resulted to be 40%. Allergic rhinitis has been considered to be the most frequent form of chronic rhinitis, as non-allergic rhinitis has been estimated to account for 25%. However, several evidences suggested that non-allergic rhinitis have been underrated, especially in children. In pediatrics, the diagnostic definition of non-allergic rhinitis has been often limited to the exclusion of an allergic sensitization. Actually, local allergic rhinitis has been often misdiagnosed as well as mixed rhinitis has not been recognized in most cases. Nasal cytology is a diagnostic procedure being suitable for routine clinical practice with children and could be a very useful tool to characterize and diagnose non-allergic rhinitis, providing important clues for epidemiological analysis and clinical management.
文摘Giant cell hepatitis(GCH)is characterized by large and multinucleated(syncytial)hepatocytes in the context of liver inflammation.Infantile GCH is typically associated with autoimmune hemolytic anemia in the absence of any other systemic or organ-specific autoimmune comorbidity.The etiology is unknown;concomitant viral infections(as potential trigger factors)have been identified in a few patients.The pathogenesis reportedly relies upon immune-mediated/autoimmune mechanisms.This condition should be considered in any infant developing Coombs-positive anemia;indeed,anemia usually precedes the development of hepatitis.The clinical course is usually aggressive without the appropriate immunosuppressive therapy,which may include steroids,conventional immunosuppressors(e.g.,azathioprine and cyclophosphamide as first-line treatments),intravenous immunoglobulin,and biologics(rituximab).Improvements in medical management(including the availability of rituximab)have significantly reduced the mortality of this condition in the last decade.
文摘BACKGROUND Even though coronavirus 2019 disease(COVID-19)clinical course in children is much milder than in adults,pneumonia can occur in the pediatric population as well.Here,we reported a single-center pediatric case series of COVID-19 from Kazakhstan during the first wave of pandemic.AIM To analyze the main clinical and laboratory aspects in severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)positive and negative children diagnosed with pneumonia.METHODS This is a retrospective analysis of 54 children,who were medically assessed as close contacts of COVID-19 adults in their family setting,between June and September 2020.These children were all hospitalized:We compared the clinical and laboratory characteristics of children affected with pneumonia in the presence(group 1)or absence(group 2)of SARS-CoV-2 infection.RESULTS Overall,the main clinical manifestations at the admission were fever,cough,loss of appetite,fatigue/weakness,nasal congestion and/or rhinorrhea,and dyspnea.Based on the SARS-CoV-2 polymerase chain reaction(PCR)test,24 positive children with pneumonia(group 1)and 20 negative children with pneumonia(group 2)were identified;10 positive children did not show any radiological findings of pneumonia.No significant differences were found between the two pneumonia study groups for any clinical and laboratory parameters,except for C-reactive protein(CRP).Of course,both pneumonia groups showed increased CRP values;however,the COVID-19 pneumonia group 1 showed a significantly higher increase of CRP compared to group 2.CONCLUSION In our case series of children assessed for SARS-CoV-2 infection based on contact tracing,the acute inflammatory response and,in detail,CRP increase resulted to be more pronounced in COVID-19 children with pneumonia than in children with SARS-CoV-2-unrelated pneumonia.However,because of multiple limitations of this study,larger,controlled and more complete clinical studies are needed to verify this finding.
