AIM To study the relationship between pre-formation of gallstone and the kinetics and ultra-structure of sphincter of Oddi.METHODS Adult female rabbits were used anddivided into 3 groups,and fed with either normalor h...AIM To study the relationship between pre-formation of gallstone and the kinetics and ultra-structure of sphincter of Oddi.METHODS Adult female rabbits were used anddivided into 3 groups,and fed with either normalor high cholesterol diet for four or eight weeks.Each group contained eight rabbits.Themanometry of sphincter of Oddi,biliarycineradiography,gallbladder volumemeasurement and ultrastructure observationunder electron microscope were performed.RESULTS In groups Ⅰ and Ⅱ,the basalpressure in low-pressure ampulla or highpressure zone of sphincter of Oddi waselevated,the amplitude of phasic contractionwas decreased and the volume of gallbladderwere increased,with a significant difference(P【0.01)from those of control.Gallstones werefound in group Ⅱ rabbits(7/8).Undercineradiography,low-pressure ampulla showeda spasmodic status without apparent peristalticcontraction.Under electron microscope,insidethe muscular cells of sphincter of Oddi,loosening of microfilament and swelling ofplasmosomes which congregated at the top wereobserved.The amount showed no obviouschange under nitric oxide synthase(NOS)stain.CONCLUSION Twisting of the microfilamentand disarrangement of kink macula densa insidethe muscular ceils suggested that the sphincterof Oddi was under spasmodic status.Theimpaired diastolic function caused andaggravated the stasis of cystic bile.Theswelling plasmosome could be one of theimportant factors in elevating the tonic pressureof sphincter of Oddi.展开更多
Background:Cardiomyopathy has a variety of etiologies.Here,we report a case of iron overload cardiomyopathy(IOC)in combination with hereditary stomatocytosis(HST)due to a rare mutation in the PIEZO1 gene.Case summary:...Background:Cardiomyopathy has a variety of etiologies.Here,we report a case of iron overload cardiomyopathy(IOC)in combination with hereditary stomatocytosis(HST)due to a rare mutation in the PIEZO1 gene.Case summary:A 31-year-old man presented to the clinic with a new onset of fatigue and abdominal distension.He had a history of 9-year cholelithiasis,4-year hemolytic anemia,7-month diabetes mellitus(DM),and 6-month low sex drive.The specific features of bronze skin,liver palms,yellow eyes,DM,and cardiomyopathy raised our suspicion of hemochromatosis,which was confirmed by an elevated serum ferritin concentration and high transferrin saturation.Echocardiography and cardiovascular magnetic resonance(CMR)imaging demonstrated dilation of all cardiac cavities with a left ventricular ejection fraction of 30%.CMR T2*mapping showed myocardial,hepatic,and pancreatic siderosis.Next-generation sequencing identified one missense variant in the PIEZO1 gene(C.2005G>T),which conferred HST and hyperferritinemia.We screened his close family members and identified his son as a heterozygous carrier of this variant,who had intermittent jaundice.Conclusion:In this case,the PIEZO1 c.2005G>T mutation conferred HST and IOC,complicated with choleithiasis,DM,and low sex drive.Bronze skin,liver crrhosis,cardiomyopathy,and DM are red flags,while magnetic resonance imaging T2*mapping,blood iron metabolism markers,and gene testing are valuable in the diagnosis.展开更多
文摘AIM To study the relationship between pre-formation of gallstone and the kinetics and ultra-structure of sphincter of Oddi.METHODS Adult female rabbits were used anddivided into 3 groups,and fed with either normalor high cholesterol diet for four or eight weeks.Each group contained eight rabbits.Themanometry of sphincter of Oddi,biliarycineradiography,gallbladder volumemeasurement and ultrastructure observationunder electron microscope were performed.RESULTS In groups Ⅰ and Ⅱ,the basalpressure in low-pressure ampulla or highpressure zone of sphincter of Oddi waselevated,the amplitude of phasic contractionwas decreased and the volume of gallbladderwere increased,with a significant difference(P【0.01)from those of control.Gallstones werefound in group Ⅱ rabbits(7/8).Undercineradiography,low-pressure ampulla showeda spasmodic status without apparent peristalticcontraction.Under electron microscope,insidethe muscular cells of sphincter of Oddi,loosening of microfilament and swelling ofplasmosomes which congregated at the top wereobserved.The amount showed no obviouschange under nitric oxide synthase(NOS)stain.CONCLUSION Twisting of the microfilamentand disarrangement of kink macula densa insidethe muscular ceils suggested that the sphincterof Oddi was under spasmodic status.Theimpaired diastolic function caused andaggravated the stasis of cystic bile.Theswelling plasmosome could be one of theimportant factors in elevating the tonic pressureof sphincter of Oddi.
基金the National Natural Science Foundation of China(82072144,82072141,and 82002017)the National Key Research and Development Program of China(2017YFC1308303)+2 种基金Key R&D Program of Shandong Province(2019GSF108261)Natu-ral Science Foundation of Shandong Province.(ZR2020MH030)Clinical Research Foundation of Shandong University(2020SDUCRCC014).
文摘Background:Cardiomyopathy has a variety of etiologies.Here,we report a case of iron overload cardiomyopathy(IOC)in combination with hereditary stomatocytosis(HST)due to a rare mutation in the PIEZO1 gene.Case summary:A 31-year-old man presented to the clinic with a new onset of fatigue and abdominal distension.He had a history of 9-year cholelithiasis,4-year hemolytic anemia,7-month diabetes mellitus(DM),and 6-month low sex drive.The specific features of bronze skin,liver palms,yellow eyes,DM,and cardiomyopathy raised our suspicion of hemochromatosis,which was confirmed by an elevated serum ferritin concentration and high transferrin saturation.Echocardiography and cardiovascular magnetic resonance(CMR)imaging demonstrated dilation of all cardiac cavities with a left ventricular ejection fraction of 30%.CMR T2*mapping showed myocardial,hepatic,and pancreatic siderosis.Next-generation sequencing identified one missense variant in the PIEZO1 gene(C.2005G>T),which conferred HST and hyperferritinemia.We screened his close family members and identified his son as a heterozygous carrier of this variant,who had intermittent jaundice.Conclusion:In this case,the PIEZO1 c.2005G>T mutation conferred HST and IOC,complicated with choleithiasis,DM,and low sex drive.Bronze skin,liver crrhosis,cardiomyopathy,and DM are red flags,while magnetic resonance imaging T2*mapping,blood iron metabolism markers,and gene testing are valuable in the diagnosis.
