Experimental evidence indicates that chronic mechanical sub-occlusion of the intestine may damage the enteric nervous system （ENS）, although data in humans are lacking. We here describe the first case of enteric deg...Experimental evidence indicates that chronic mechanical sub-occlusion of the intestine may damage the enteric nervous system （ENS）, although data in humans are lacking. We here describe the first case of enteric degenerative neuropathy related to a congenital obstruction of the gut. A 3-year and 9-mo old girl began to complain of vomiting, abdominal distension, constipation with air-fluid levels at plane abdominal radiology. Her subsequent medical history was characterized by 3 operations： the first showed dilated duodeno-jejunal loops in the absence of occlusive lesions; the second （2 years later） was performed to obtain full-thickness biopsies of the dilated intestinal loops and revealed hyperganglionosis at histopathology; the third （9 years after the hyperganglionosis was identified） disclosed a Ladd＇s band which was removed and the associated gut malrotation was corrected. Repeated intraoperative full-thickness biopsies showed enteric degenerative neuropathy along with reduced interstitial cells of Cajal network in dilated loops above the obstruction and a normal neuromuscular layer below the Ladd＇s band. One year after the latest surgery the patient tolerated oral feeding and did well, suggesting that congenital （partial） mechanical obstruction of the small bowel in humans can evoke progressive adaptive changes of the ENS which are similar to those found in animal models of intestinal mechanical occlusion. Such ENS changes mimic neuronal abnormalities observed in intestinal pseudoobstruction.展开更多
We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 （pl2-pter） transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gra...We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 （pl2-pter） transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gravida 4, para 1 at 35 weeks＇ gestation due to a tricuspid regurgitation and orbital hypertelorism by sonography revealed an unusual karyotype of 46, XY, der （6） t （6;12） （p24;p12） mat. The pregnancy was terminated at 37 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. By anatomy, the fetal was found to have right artery catheter vagus, congenital cataract, no turbinate and external auditory canal. Through the karoytpye-phynotpye analysis on the present patient and a review of other reported cases, we believed that the case was the first report, which expanded the database of partial trisomy 12p, and was of benefit for future clinical genetic counseling. At the same time, this study supported the viewpoint that phenotypic variability depends on the type and extent of the associated partial monosomy展开更多
Objective:To investigate the role of ^(99m)Tc-TRODAT-1 SPECT in diagnosis and assessing severity of idiopathicParkinson's disease(PD).Methods:Thirty-eight patients with primary,tentative diagnosis of PD and eighte...Objective:To investigate the role of ^(99m)Tc-TRODAT-1 SPECT in diagnosis and assessing severity of idiopathicParkinson's disease(PD).Methods:Thirty-eight patients with primary,tentative diagnosis of PD and eighteen age-matchednormal controls were studied with ^(99m)Tc-TRODAT-1 SPECT imaging.The regions of interests(ROIs)were drawn manually oncerebellum(CB),occipital cortex(OC)and three transverse plane slice-views of striatums,the semiquantitative BG(back-ground)/[(OC+CB)/2]were then calculated.Results:A lower uptake of ^(99m)Tc-TRODAT-1 in striatums were displayed inthirty-six out of thirty-eight PD patients by visual inspection,compared to controls.In twenty-four PD cases with HYS(Hoehn andYahr scale)stage Ⅰ,a greater loss of DAT uptake was found in striatum and its subregions contralateral striatum to the affectedlimbs than in the same regions of the controls,although the striatal uptake was bilaterally reduced.Using Spearman correlationanalysis showed that the reduction of the uptake ratios significantly correlated with the UPDRS in striatum and all its subregions inthe PD group(P<0.05),a similar change was also found in the putamen by using the rating scale of Hoehn and Yahr (P<0.05).However,analysis of variance(ANOVA)did not show any relationship between the decreasing uptake of ^(99m)Tc-TRODAT-1 andincreasing severity of PD patients,although the specific uptake of ^(99m)Tc-TRODAT-1 was continuously decreased in the striatumby visual inspection with the progress of PD from HYS stage Ⅰ to Ⅲ.Conclusion:^(99m)Tc-TRODAT-1 SPECT imaging may serve asa useful method for improving the correct diagnosis of PD.In assessing the role of ^(99m)Tc-TRODAT-1 SPECT in disease severity ofPD,UPDRS can offer a comprehensive index,although the Hoehn and Yahr assessment may be available in part.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
基金Supported by the Italian Ministry of Education, University and Research (CCOFIN Project No. 2004062155 to RDeG,2004055120 to GB and 2003064378 to RDeG, GB and VS)
文摘Experimental evidence indicates that chronic mechanical sub-occlusion of the intestine may damage the enteric nervous system （ENS）, although data in humans are lacking. We here describe the first case of enteric degenerative neuropathy related to a congenital obstruction of the gut. A 3-year and 9-mo old girl began to complain of vomiting, abdominal distension, constipation with air-fluid levels at plane abdominal radiology. Her subsequent medical history was characterized by 3 operations： the first showed dilated duodeno-jejunal loops in the absence of occlusive lesions; the second （2 years later） was performed to obtain full-thickness biopsies of the dilated intestinal loops and revealed hyperganglionosis at histopathology; the third （9 years after the hyperganglionosis was identified） disclosed a Ladd＇s band which was removed and the associated gut malrotation was corrected. Repeated intraoperative full-thickness biopsies showed enteric degenerative neuropathy along with reduced interstitial cells of Cajal network in dilated loops above the obstruction and a normal neuromuscular layer below the Ladd＇s band. One year after the latest surgery the patient tolerated oral feeding and did well, suggesting that congenital （partial） mechanical obstruction of the small bowel in humans can evoke progressive adaptive changes of the ENS which are similar to those found in animal models of intestinal mechanical occlusion. Such ENS changes mimic neuronal abnormalities observed in intestinal pseudoobstruction.
文摘We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 （pl2-pter） transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gravida 4, para 1 at 35 weeks＇ gestation due to a tricuspid regurgitation and orbital hypertelorism by sonography revealed an unusual karyotype of 46, XY, der （6） t （6;12） （p24;p12） mat. The pregnancy was terminated at 37 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. By anatomy, the fetal was found to have right artery catheter vagus, congenital cataract, no turbinate and external auditory canal. Through the karoytpye-phynotpye analysis on the present patient and a review of other reported cases, we believed that the case was the first report, which expanded the database of partial trisomy 12p, and was of benefit for future clinical genetic counseling. At the same time, this study supported the viewpoint that phenotypic variability depends on the type and extent of the associated partial monosomy
文摘Objective:To investigate the role of ^(99m)Tc-TRODAT-1 SPECT in diagnosis and assessing severity of idiopathicParkinson's disease(PD).Methods:Thirty-eight patients with primary,tentative diagnosis of PD and eighteen age-matchednormal controls were studied with ^(99m)Tc-TRODAT-1 SPECT imaging.The regions of interests(ROIs)were drawn manually oncerebellum(CB),occipital cortex(OC)and three transverse plane slice-views of striatums,the semiquantitative BG(back-ground)/[(OC+CB)/2]were then calculated.Results:A lower uptake of ^(99m)Tc-TRODAT-1 in striatums were displayed inthirty-six out of thirty-eight PD patients by visual inspection,compared to controls.In twenty-four PD cases with HYS(Hoehn andYahr scale)stage Ⅰ,a greater loss of DAT uptake was found in striatum and its subregions contralateral striatum to the affectedlimbs than in the same regions of the controls,although the striatal uptake was bilaterally reduced.Using Spearman correlationanalysis showed that the reduction of the uptake ratios significantly correlated with the UPDRS in striatum and all its subregions inthe PD group(P<0.05),a similar change was also found in the putamen by using the rating scale of Hoehn and Yahr (P<0.05).However,analysis of variance(ANOVA)did not show any relationship between the decreasing uptake of ^(99m)Tc-TRODAT-1 andincreasing severity of PD patients,although the specific uptake of ^(99m)Tc-TRODAT-1 was continuously decreased in the striatumby visual inspection with the progress of PD from HYS stage Ⅰ to Ⅲ.Conclusion:^(99m)Tc-TRODAT-1 SPECT imaging may serve asa useful method for improving the correct diagnosis of PD.In assessing the role of ^(99m)Tc-TRODAT-1 SPECT in disease severity ofPD,UPDRS can offer a comprehensive index,although the Hoehn and Yahr assessment may be available in part.
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.
