AIM： To explore the genetic diversities of UL144 open reading frame （ORF） of cytomegalovirus DNA detected in colon tissue from infants with Hirschsprung＇s disease （HD） by sequencing UL144 DNA in 23 aganglionic c...AIM： To explore the genetic diversities of UL144 open reading frame （ORF） of cytomegalovirus DNA detected in colon tissue from infants with Hirschsprung＇s disease （HD） by sequencing UL144 DNA in 23 aganglionic colon tissue and 4 urine samples from 25 HD infants. METHODS： Nest PCR was performed for amplification of the UL144 gene. The UL144 gene was analyzed with soffwares, such as DNAclub, BioEdit, PROSITE database, and DNAstar. RESULTS： The strains from HD patients were distributed among three genotypes of UL144： group 1A （64%）, group 2 （24%）, and group 3 （12%）. The UL144 genotypes between strains from HD and control group were compared by chi square test （x^2 = 1.870, P = 0.393）. Strains from the colon were sporadically distributed in UL144 genotypes. CONCLUSION： There are genetic diversities of UL144 ORF in colon tissue of infants with HD. However, cytomegalovirus UL144 genotypes are not associated with clinical manifestations of HD.展开更多
AIM: To study the long-term therapeutic effect of 'heartshaped' anastomosis for Hirschsprung's disease.METHODS: From January 1986 to October 1997, we performed one-stage 'heart-shaped' anastomosis ...AIM: To study the long-term therapeutic effect of 'heartshaped' anastomosis for Hirschsprung's disease.METHODS: From January 1986 to October 1997, we performed one-stage 'heart-shaped' anastomosis for 193 patients with Hirschsprung's disease (HD). One hundred and fiftytwo patients were followed up patients (follow-up rate 79%).The operative outcome and postoperative complications were retrospectively analyzed.RESULTS: Early complications included urine retention in 2patients, enteritis in 10, anastomotic stricture in 1, and intestinal obstruction in 2. No infection of abdominal cavity or wound and anastomotic leakage or death occurred in any patients. Late complications were present in 22 cases,including adhesive intestinal obstruction in 2, longer anal in 5, incision hernia in 2, enteritis in 6, occasional stool stains in 7 and 6 related with improper diet. No constipation or incontinence occurred in any patient.CONCLUSION: The early and late postoperative complication rates were 7.8% and 11.4% respectively in our 'heartshaped anastomosis' procedure. 'Heart-shaped'anastomosis procedure for Hirschsprung's disease provides a better therapeutic effect compared to classic procedures.展开更多
Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's dis...Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype is associated with mutations in multiple distinct genes. Furthermore, the genetics of Hirschsprung's disease are highly complex and not strictly Mendelian. The phenotypic variability and incomplete penetrance observed in Hirschsprung' s disease also suggests the involvement of modifier genes. Here, we summarise the current knowledge of the genetics underlying Hirschsprung's disease based on human and animal studies, focusing on the principal causative genes, their interactions, and the role of modif ier genes.展开更多
AIM:To define the topography of mast cells and their numbers in cases of Hirschsprung's disease(HD)and non-HD,assess neural hypertrophy using imaging software and to study the relationship between mast cells and n...AIM:To define the topography of mast cells and their numbers in cases of Hirschsprung's disease(HD)and non-HD,assess neural hypertrophy using imaging software and to study the relationship between mast cells and nerve fibers.METHODS:HE stained sections of 32 cases of chronic constipation in the age group of 0-14 years were reviewed for ganglion cells.AChE staining was performed on frozen sections of colonic and rectal biopsies.Based on their findings cases were divided into HD and non-HD and mast cells stained by toluidine blue were evaluated.Image analysis by computerized software was applied to S-100 stained sections for assessment of neural hypertrophy.RESULTS:Difference between number of mast cells in HD group(mean=36.44)and in non-HD group(mean =14.79)was statistically significant.Image analysis morphometry on S-100 stained sections served as a useful adjunct.The difference between number,size,and perimeter of the nerve fibers between HD and non-HD group was statistically significant.CONCLUSION:Mast cells are significantly increased in HD and their base line values are much higher in Indian children than that reported in Western literature.Their role in HD needs further research.Morphometry of S-100 stained nerve fibers is a useful adjunct to conventional methods for diagnosis of HD.展开更多
AIM: To investigate the relationship between mutations of rearranged during transfection (RET) proto-oncogene and Chinese patients with Hirschsprung's disease (HD), and to elucidate the genetic mechanism of famili...AIM: To investigate the relationship between mutations of rearranged during transfection (RET) proto-oncogene and Chinese patients with Hirschsprung's disease (HD), and to elucidate the genetic mechanism of familial HD patient at the molecular level.METHODS: Genomic DNA was extracted from venous blood of probands and their relatives in two genealogies.Polymerase chain reaction (PCR) products, which were amplified using specific primers (RET, exons 11, 13, 15and 17), were electrophoresed to analyze the single-strand conformational polymorphism (SSCP) patterns. The positive amplified products were sequenced. Forty-eight sporadic HD patients and 30 normal children were screened for mutations of RET proto-oncogene simultaneously.RESULTS: Three cases with HD in one family were found to have a G heterozygous insertion at nucleotide 18 974 in exon 13 of RET cDNA (18 974insG), which resulted in a frameshift mutation. In another family, a heterozygosity for T to G transition at nucleotide 18 888 in the same exon which resulted in a synonymous mutation of Leu at codon 745 was detected in the proband and his father. Eight RET mutations were confirmed in 48 sporadic HD patients.CONCLUSION: Mutations of RET proto-oncogene may play an important role in the pathogenesis of Chinese patients with HD. Detection of mutated RET proto-oncogene carriers may be used for genetic counseling of potential risk for HD in the affected families.展开更多
Hirschsprung is a kind of common and severer congenital digestive tract malformation in newborns. At present, the treatment methods at home and abroad mainly include surgical therapy and neural stem cell transplantati...Hirschsprung is a kind of common and severer congenital digestive tract malformation in newborns. At present, the treatment methods at home and abroad mainly include surgical therapy and neural stem cell transplantation, acupuncture-moxibustion and tuina are mostly applied after operation, and there is rare report on non-surgical treatment before operation. In this paper, satisfactory effect has been obtained by adopting acupuncture-moxibustion and tuino for treatment of infant hirschsprung in the early stage, which provided a new idea for non-surgical treatment of infant hirschsprung in the early stage.展开更多
基金Supported by the National Natural Science Foundation of China, No.30170986
文摘AIM： To explore the genetic diversities of UL144 open reading frame （ORF） of cytomegalovirus DNA detected in colon tissue from infants with Hirschsprung＇s disease （HD） by sequencing UL144 DNA in 23 aganglionic colon tissue and 4 urine samples from 25 HD infants. METHODS： Nest PCR was performed for amplification of the UL144 gene. The UL144 gene was analyzed with soffwares, such as DNAclub, BioEdit, PROSITE database, and DNAstar. RESULTS： The strains from HD patients were distributed among three genotypes of UL144： group 1A （64%）, group 2 （24%）, and group 3 （12%）. The UL144 genotypes between strains from HD and control group were compared by chi square test （x^2 = 1.870, P = 0.393）. Strains from the colon were sporadically distributed in UL144 genotypes. CONCLUSION： There are genetic diversities of UL144 ORF in colon tissue of infants with HD. However, cytomegalovirus UL144 genotypes are not associated with clinical manifestations of HD.
基金Supported by the National Natural Science Foundation of China, No.39670746
文摘AIM: To study the long-term therapeutic effect of 'heartshaped' anastomosis for Hirschsprung's disease.METHODS: From January 1986 to October 1997, we performed one-stage 'heart-shaped' anastomosis for 193 patients with Hirschsprung's disease (HD). One hundred and fiftytwo patients were followed up patients (follow-up rate 79%).The operative outcome and postoperative complications were retrospectively analyzed.RESULTS: Early complications included urine retention in 2patients, enteritis in 10, anastomotic stricture in 1, and intestinal obstruction in 2. No infection of abdominal cavity or wound and anastomotic leakage or death occurred in any patients. Late complications were present in 22 cases,including adhesive intestinal obstruction in 2, longer anal in 5, incision hernia in 2, enteritis in 6, occasional stool stains in 7 and 6 related with improper diet. No constipation or incontinence occurred in any patient.CONCLUSION: The early and late postoperative complication rates were 7.8% and 11.4% respectively in our 'heartshaped anastomosis' procedure. 'Heart-shaped'anastomosis procedure for Hirschsprung's disease provides a better therapeutic effect compared to classic procedures.
基金Supported by The National Health and Medical Research Council of Australia to Anderson RB: Project grant, No. 509219a CDA Fellowship, No. 454773
文摘Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype is associated with mutations in multiple distinct genes. Furthermore, the genetics of Hirschsprung's disease are highly complex and not strictly Mendelian. The phenotypic variability and incomplete penetrance observed in Hirschsprung' s disease also suggests the involvement of modifier genes. Here, we summarise the current knowledge of the genetics underlying Hirschsprung's disease based on human and animal studies, focusing on the principal causative genes, their interactions, and the role of modif ier genes.
文摘AIM:To define the topography of mast cells and their numbers in cases of Hirschsprung's disease(HD)and non-HD,assess neural hypertrophy using imaging software and to study the relationship between mast cells and nerve fibers.METHODS:HE stained sections of 32 cases of chronic constipation in the age group of 0-14 years were reviewed for ganglion cells.AChE staining was performed on frozen sections of colonic and rectal biopsies.Based on their findings cases were divided into HD and non-HD and mast cells stained by toluidine blue were evaluated.Image analysis by computerized software was applied to S-100 stained sections for assessment of neural hypertrophy.RESULTS:Difference between number of mast cells in HD group(mean=36.44)and in non-HD group(mean =14.79)was statistically significant.Image analysis morphometry on S-100 stained sections served as a useful adjunct.The difference between number,size,and perimeter of the nerve fibers between HD and non-HD group was statistically significant.CONCLUSION:Mast cells are significantly increased in HD and their base line values are much higher in Indian children than that reported in Western literature.Their role in HD needs further research.Morphometry of S-100 stained nerve fibers is a useful adjunct to conventional methods for diagnosis of HD.
基金Supported by the Fund for Excellent Young Talented Persons by Public Health Ministry of China, and Analysis and Testing Foundation of Zhejiang Province, No. 99075
文摘AIM: To investigate the relationship between mutations of rearranged during transfection (RET) proto-oncogene and Chinese patients with Hirschsprung's disease (HD), and to elucidate the genetic mechanism of familial HD patient at the molecular level.METHODS: Genomic DNA was extracted from venous blood of probands and their relatives in two genealogies.Polymerase chain reaction (PCR) products, which were amplified using specific primers (RET, exons 11, 13, 15and 17), were electrophoresed to analyze the single-strand conformational polymorphism (SSCP) patterns. The positive amplified products were sequenced. Forty-eight sporadic HD patients and 30 normal children were screened for mutations of RET proto-oncogene simultaneously.RESULTS: Three cases with HD in one family were found to have a G heterozygous insertion at nucleotide 18 974 in exon 13 of RET cDNA (18 974insG), which resulted in a frameshift mutation. In another family, a heterozygosity for T to G transition at nucleotide 18 888 in the same exon which resulted in a synonymous mutation of Leu at codon 745 was detected in the proband and his father. Eight RET mutations were confirmed in 48 sporadic HD patients.CONCLUSION: Mutations of RET proto-oncogene may play an important role in the pathogenesis of Chinese patients with HD. Detection of mutated RET proto-oncogene carriers may be used for genetic counseling of potential risk for HD in the affected families.
基金Supported by Hunan Provincial Natural Science Foundation of China:2017JJ3224Key research project of Hunan Provincial Administration of Traditional Chinese Medicine:201618Research project of Hunan Provincial Administration of Traditional Chinese Medicine:2015144
文摘Hirschsprung is a kind of common and severer congenital digestive tract malformation in newborns. At present, the treatment methods at home and abroad mainly include surgical therapy and neural stem cell transplantation, acupuncture-moxibustion and tuina are mostly applied after operation, and there is rare report on non-surgical treatment before operation. In this paper, satisfactory effect has been obtained by adopting acupuncture-moxibustion and tuino for treatment of infant hirschsprung in the early stage, which provided a new idea for non-surgical treatment of infant hirschsprung in the early stage.
