BACKGROUND Gastrointestinal duplication is a rare congenital anomaly of the digestive tract,with colonic manifestations being particularly uncommon.Malignant transformation of colonic duplication cysts is rare,with ad...BACKGROUND Gastrointestinal duplication is a rare congenital anomaly of the digestive tract,with colonic manifestations being particularly uncommon.Malignant transformation of colonic duplication cysts is rare,with adenocarcinoma being the most frequently reported type.Herein,we report a rare case of adenocarcinoma originating from a colonic duplication cyst.CASE SUMMARY A 49-year-old woman was found to have an elevated cancer antigen 19-9 level during a routine checkup.Imaging revealed a well-defined abdominal cavity cystic mass,which was initially suspected to be an ovarian teratoma.Laparoscopic surgery revealed a duplication cyst,and pathological examination confirmed adenocarcinoma arising from the cyst.The mass within the transverse mesocolon was successfully excised by a colorectal surgeon.Immunohistochemical analysis confirmed adenocarcinoma with invasion into the muscularis propria.Postoperative endoscopy and positron emission computed tomography scan showed no signs of malignancy,except for an elevated cancer antigen 19-9 level.A multidisciplinary team recommended no further chemotherapy,advising routine follow-up for monitoring.CONCLUSION Colonic duplications,though rare,remain a differential diagnosis of unexplained abdominal masses,with complete resection being their primary treatment approach.展开更多
BACKGROUND Gastric duplication cysts(GDCs)are rare congenital anomalies,and consensus guidelines for their diagnosis and management are currently lacking.We report a rare case of a GDC in a female child presenting as ...BACKGROUND Gastric duplication cysts(GDCs)are rare congenital anomalies,and consensus guidelines for their diagnosis and management are currently lacking.We report a rare case of a GDC in a female child presenting as a submucosal tumor in the gastric antrum.Subtotal resection was achieved using endoscopic submucosal dissection(ESD),resulting in complete symptom relief and pathological confirmation.This case demonstrates the therapeutic potential of ESD for intraluminal GDCs and underscores the importance of complete resection for definitive diagnosis.CASE SUMMARY A 12-year-old girl presented with abdominal distension and pain for>1 year.Gastroscopy revealed a protruding lesion approximately 30 mm in diameter in the gastric antrum.Superficial biopsies revealed moderate chronic inflammation and intestinal metaplasia.Contrast-enhanced computed tomography showed a mass protruding into the gastric lumen with homogeneous cyst wall enhancement.Endoscopic ultrasonography identified a hypoechoic mass originating from the muscularis mucosa.The patient underwent ESD for diagnosis and symptom relief.Intraoperatively,due to firm adhesion between the cyst base and the muscularis propria,selective preservation of the adherent cyst base was performed to mitigate perforation and stenosis risks.Histopathology confirmed a GDC,with cyst lumen lined by gastric-type columnar epithelium and an outer smooth muscle layer.Focal ectopic pancreatic tissues were identified.The patient recovered without complications and remained asymptomatic during 6-month follow-up.Repeat gastroscopy showed the residual cyst wall conforming to antral mucosa,with no recurrence.CONCLUSION Subtotal resection of GDCs using ESD demonstrates a favorable prognosis.展开更多
Segmental duplications on rice (Oryza sativa L.) chromosomes 8, 9, 11, and 12 were studied by examining the distributions of sequences resolved by 13 probes detecting multiple copies of DNA sequences. Four of the hyb...Segmental duplications on rice (Oryza sativa L.) chromosomes 8, 9, 11, and 12 were studied by examining the distributions of sequences resolved by 13 probes detecting multiple copies of DNA sequences. Four of the hybridization bands detected by a repetitive sequence probe, rTRS, were mapped to the ends of all the four chromosomes. Two or three of the bands detected by each of the other 12 probes were also mapped to different chromosomes. The bands detected by the same probe usually occurred in similar locations of different chromosomes. Loci detected by different DNA probes were often similarly arranged on different chromosomes. Chromosomes 8 and 9 showed colinearity of marker loci arrangement indicating a possible common origin. A segment on chromosome 9 was also very similar to the previously reported duplicated fragments on the ends of chromosomes 11 and 12 which were also detected in this study, indicating a likely common origin. Moreover, the various degrees of distributional similarity of the segments suggest a complex relationship among the chromosomes in the evolution of the rice genome. These results support the proposition that chromosome duplication and diversification may be a mechanism for the origin and evolution of the chromosomes in the rice genome.展开更多
BACKGROUND Complement-mediated thrombotic microangiopathy(TMA)is a rare endothelial injury syndrome caused by dysregulated activation of the alternative complement pathway,often linked to genetic abnormalities in comp...BACKGROUND Complement-mediated thrombotic microangiopathy(TMA)is a rare endothelial injury syndrome caused by dysregulated activation of the alternative complement pathway,often linked to genetic abnormalities in complement factor H(CFH),complement factor I,or complement factor H-related(CFHR)proteins.Both renal transplantation and pregnancy are independent triggers for recurrence.This case highlights a genetically high-risk patient who achieved a successful term pregnancy after renal transplantation without complement inhibition,emphasizing individualized risk stratification,close surveillance,and multidisciplinary management for favourable maternal and graft outcomes.CASE SUMMARY A 32-year-old woman with end-stage renal disease secondary to genetically confirmed complement-mediated TMA—homozygous CFH exon 17 deletion and CFHR3-CFHR1 duplication—was maintained on dialysis for 2.5 years before undergoing a successful live-donor kidney transplant from her mother.Post-transplant immunosuppression included tacrolimus,mycophenolate mofetil,and prednisolone,later modified to azathioprine during pregnancy planning.One-year post-transplant,she conceived spontaneously.Pregnancy was complicated by transient gestational hypertension,controlled with nifedipine,labetalol,and amlodipine.Proteinuria remained<150 mg/day;white blood cell counts 5.8-7.2×109/L without cytopenia.Serum creatinine ranged 0.9-1.1 mg/dL,and tacrolimus trough levels 5-7 ng/mL.At 36 weeks,she delivered a healthy 3 kg infant by elective caesarean section.Postpartum follow-up at three months confirmed stable maternal and graft function.CONCLUSION High-risk complement-mediated TMA patients can achieve successful pregnancy post-transplant through individualized care without mandatory complement blockade.展开更多
Since the first MADS-box transcription factor genes were implicated in the establishment of floral organ identity in a couple of model plants, the size and scope of this gene family has begun to be appreciated in a mu...Since the first MADS-box transcription factor genes were implicated in the establishment of floral organ identity in a couple of model plants, the size and scope of this gene family has begun to be appreciated in a much wider range of species. Over the course of millions of years the number of MADS-box genes in plants has increased to the point that the Arabidopsis genome contains more than 100. The understanding gained from studying the evolution, regulation and function of multiple MADS-box genes in an increasing set of species, makes this large plant transcription factor gene family an ideal subject to study the processes that lead to an increase in gene number and the selective birth, death and repurposing of its component members. Here we will use examples taken from the MADS-box gene family to review what is known about the factors that influence the loss and retention of genes duplicated in different ways and examine the varied fates of the retained genes and their associated biological outcomes.展开更多
Gastric duplication cyst is a very rare gastrointestinal tract malformation that accounts for 2%-4%of alimentary tract duplications.Most cases are diagnosed within the first year of life,following presentation of abdo...Gastric duplication cyst is a very rare gastrointestinal tract malformation that accounts for 2%-4%of alimentary tract duplications.Most cases are diagnosed within the first year of life,following presentation of abdominal pain,vomiting,and weight loss and clinical discovery of an abdominal palpable mass.This case report describes a very uncommon symptomatic gastric duplication cyst diagnosed for the first time in adulthood.Only a few other case reports of similar condition exist,and all were identified by endosonography.The current case involves a 52-year-old male who presented with a onemonth history of progressive iron deficiency anemia without overt gastrointestinal bleeding.The patient underwent esophagogastroduodenoscopy,which revealed a 2.0 cm pinkish subepithelial lesion,suspected to be a gastrointestinal stromal tumor(GIST)and source of gastrointestinal bleeding.The endosonography showed inhomogeneous hypoechoic lesions with focal anechoic areas arising from a second and third layer of the gastric wall.Differential diagnoses of GIST,neuroendocrine tumor,or pancreatic heterotopia were made.The lesion was removed using an endoscopic submucosal resection technique.Histopathology revealed an erosive gastric mass composed of a complex structure of dilated gastric glands surrounded by fibro-muscular tissue,fibroblasts,and smooth muscle bundles,which led to the diagnosis of gastric duplication.展开更多
Lipoma within jejunal duplication presenting as abdominal bloating and partial intestinal obstruction is an exceptional clinical entity.We report a case of 68-year-old man complaining of abdominal bloating for 10 d du...Lipoma within jejunal duplication presenting as abdominal bloating and partial intestinal obstruction is an exceptional clinical entity.We report a case of 68-year-old man complaining of abdominal bloating for 10 d due to multiple lipomas arising from jejunal duplication cysts.Only a few cases of a single lipoma within a Meckel’s diverticulum giving rise to this clinical scenario have been reported in the English language literature.However,no case of multiple lipomas within jejunal duplication cysts has been reported.We present a case in which doubleballoon endoscopy revealed a small intestinal structure changed into Meckel’s diverticulum-like cavities containing several lipomas.This case highlights intestinal lipoma as an uncommon cause of adult intussusceptions,which should be included in the differential diagnosis of small intestinal obstruction and appropriate examinations should be chosen.展开更多
Duplications of the alimentary tract (ATD) are rare congenital anomalies often found early in life. They may occur anywhere in the intestinal tract but the ileum is the most frequently affected site. Clinical presenta...Duplications of the alimentary tract (ATD) are rare congenital anomalies often found early in life. They may occur anywhere in the intestinal tract but the ileum is the most frequently affected site. Clinical presentation of ATD in adults is variable and because these lesions occur so infrequently they are rarely suspected. In the present report we describe a case of ileal duplication in a 61-year-old patient with Crohn’s disease. Despite various radiological investigations and medical consultations, the diagnosis was only made on the surgical specimen.展开更多
Tubular duplication of the colon is very rare especially in adulthood,because it is frequently symptomatic earlier in newborn life,so only few cases are reported in literature.Several theories are proposed to explain ...Tubular duplication of the colon is very rare especially in adulthood,because it is frequently symptomatic earlier in newborn life,so only few cases are reported in literature.Several theories are proposed to explain the onset and the evolution of gut malformations as the aberrant lumen recanalization or the diverticular theory,the alteration of the lateral closure of the embryonal disk or finally the dorsal protrusion of the yolksac for herniation or adhesion to the ectoderm for an abnormality of the longitudinal line,but none clarifies the exact genesis of duplication.We present a case of "Y-shaped" tubular duplication of the transverse colon in a 21-year-old adult,with a history of chronic pain and constipation,referred to our department for abdominal pain with retrosternal irradiation,treated with the resection of the aberrant bowel.展开更多
Duodenal duplication cysts are benign rare congenital anomalies reported mainly in the pediatric population,but seldom in adults.Symptoms depend on the type and location and can present as abdominal pain,distension,dy...Duodenal duplication cysts are benign rare congenital anomalies reported mainly in the pediatric population,but seldom in adults.Symptoms depend on the type and location and can present as abdominal pain,distension,dysphagia or dyspepsia.They have been reported to be responsible for duodenal obstruction,pancreatitis and,in rare cases,gastrointestinal bleeding.We present a case of a duodenal duplication cyst in a 43-year-old man presenting as melena.Initial gastroduodenoscopy and colonoscopy did not reveal any bleeding focus.However,the patient began passing melena after 3 d,with an acute decrease in hemoglobin levels.Subsequent studies revealed a duplication cyst in the second portion of the duodenum which was surgically resected.Histology revealed a duodenal duplication cyst consisting of intestinal mucosa.There was no further bleeding and the patient recovered completely.In rare cases,duodenal duplication cysts might cause gastrointestinal bleeding and should be included in the differential diagnosis.展开更多
基金Supported by a research fund from Dankook University in 2024this research was supported by the Bio&Medical Technology Development Program of the National Research Foundation(NRF)funded by the Korean government(MSIT)(RS-2023-00220408).
文摘BACKGROUND Gastrointestinal duplication is a rare congenital anomaly of the digestive tract,with colonic manifestations being particularly uncommon.Malignant transformation of colonic duplication cysts is rare,with adenocarcinoma being the most frequently reported type.Herein,we report a rare case of adenocarcinoma originating from a colonic duplication cyst.CASE SUMMARY A 49-year-old woman was found to have an elevated cancer antigen 19-9 level during a routine checkup.Imaging revealed a well-defined abdominal cavity cystic mass,which was initially suspected to be an ovarian teratoma.Laparoscopic surgery revealed a duplication cyst,and pathological examination confirmed adenocarcinoma arising from the cyst.The mass within the transverse mesocolon was successfully excised by a colorectal surgeon.Immunohistochemical analysis confirmed adenocarcinoma with invasion into the muscularis propria.Postoperative endoscopy and positron emission computed tomography scan showed no signs of malignancy,except for an elevated cancer antigen 19-9 level.A multidisciplinary team recommended no further chemotherapy,advising routine follow-up for monitoring.CONCLUSION Colonic duplications,though rare,remain a differential diagnosis of unexplained abdominal masses,with complete resection being their primary treatment approach.
文摘BACKGROUND Gastric duplication cysts(GDCs)are rare congenital anomalies,and consensus guidelines for their diagnosis and management are currently lacking.We report a rare case of a GDC in a female child presenting as a submucosal tumor in the gastric antrum.Subtotal resection was achieved using endoscopic submucosal dissection(ESD),resulting in complete symptom relief and pathological confirmation.This case demonstrates the therapeutic potential of ESD for intraluminal GDCs and underscores the importance of complete resection for definitive diagnosis.CASE SUMMARY A 12-year-old girl presented with abdominal distension and pain for>1 year.Gastroscopy revealed a protruding lesion approximately 30 mm in diameter in the gastric antrum.Superficial biopsies revealed moderate chronic inflammation and intestinal metaplasia.Contrast-enhanced computed tomography showed a mass protruding into the gastric lumen with homogeneous cyst wall enhancement.Endoscopic ultrasonography identified a hypoechoic mass originating from the muscularis mucosa.The patient underwent ESD for diagnosis and symptom relief.Intraoperatively,due to firm adhesion between the cyst base and the muscularis propria,selective preservation of the adherent cyst base was performed to mitigate perforation and stenosis risks.Histopathology confirmed a GDC,with cyst lumen lined by gastric-type columnar epithelium and an outer smooth muscle layer.Focal ectopic pancreatic tissues were identified.The patient recovered without complications and remained asymptomatic during 6-month follow-up.Repeat gastroscopy showed the residual cyst wall conforming to antral mucosa,with no recurrence.CONCLUSION Subtotal resection of GDCs using ESD demonstrates a favorable prognosis.
文摘Segmental duplications on rice (Oryza sativa L.) chromosomes 8, 9, 11, and 12 were studied by examining the distributions of sequences resolved by 13 probes detecting multiple copies of DNA sequences. Four of the hybridization bands detected by a repetitive sequence probe, rTRS, were mapped to the ends of all the four chromosomes. Two or three of the bands detected by each of the other 12 probes were also mapped to different chromosomes. The bands detected by the same probe usually occurred in similar locations of different chromosomes. Loci detected by different DNA probes were often similarly arranged on different chromosomes. Chromosomes 8 and 9 showed colinearity of marker loci arrangement indicating a possible common origin. A segment on chromosome 9 was also very similar to the previously reported duplicated fragments on the ends of chromosomes 11 and 12 which were also detected in this study, indicating a likely common origin. Moreover, the various degrees of distributional similarity of the segments suggest a complex relationship among the chromosomes in the evolution of the rice genome. These results support the proposition that chromosome duplication and diversification may be a mechanism for the origin and evolution of the chromosomes in the rice genome.
文摘BACKGROUND Complement-mediated thrombotic microangiopathy(TMA)is a rare endothelial injury syndrome caused by dysregulated activation of the alternative complement pathway,often linked to genetic abnormalities in complement factor H(CFH),complement factor I,or complement factor H-related(CFHR)proteins.Both renal transplantation and pregnancy are independent triggers for recurrence.This case highlights a genetically high-risk patient who achieved a successful term pregnancy after renal transplantation without complement inhibition,emphasizing individualized risk stratification,close surveillance,and multidisciplinary management for favourable maternal and graft outcomes.CASE SUMMARY A 32-year-old woman with end-stage renal disease secondary to genetically confirmed complement-mediated TMA—homozygous CFH exon 17 deletion and CFHR3-CFHR1 duplication—was maintained on dialysis for 2.5 years before undergoing a successful live-donor kidney transplant from her mother.Post-transplant immunosuppression included tacrolimus,mycophenolate mofetil,and prednisolone,later modified to azathioprine during pregnancy planning.One-year post-transplant,she conceived spontaneously.Pregnancy was complicated by transient gestational hypertension,controlled with nifedipine,labetalol,and amlodipine.Proteinuria remained<150 mg/day;white blood cell counts 5.8-7.2×109/L without cytopenia.Serum creatinine ranged 0.9-1.1 mg/dL,and tacrolimus trough levels 5-7 ng/mL.At 36 weeks,she delivered a healthy 3 kg infant by elective caesarean section.Postpartum follow-up at three months confirmed stable maternal and graft function.CONCLUSION High-risk complement-mediated TMA patients can achieve successful pregnancy post-transplant through individualized care without mandatory complement blockade.
基金funded by the Biotechnology and Biological Sciences Research Council(BBSRC) ERA-NET BB/G024995/1
文摘Since the first MADS-box transcription factor genes were implicated in the establishment of floral organ identity in a couple of model plants, the size and scope of this gene family has begun to be appreciated in a much wider range of species. Over the course of millions of years the number of MADS-box genes in plants has increased to the point that the Arabidopsis genome contains more than 100. The understanding gained from studying the evolution, regulation and function of multiple MADS-box genes in an increasing set of species, makes this large plant transcription factor gene family an ideal subject to study the processes that lead to an increase in gene number and the selective birth, death and repurposing of its component members. Here we will use examples taken from the MADS-box gene family to review what is known about the factors that influence the loss and retention of genes duplicated in different ways and examine the varied fates of the retained genes and their associated biological outcomes.
文摘Gastric duplication cyst is a very rare gastrointestinal tract malformation that accounts for 2%-4%of alimentary tract duplications.Most cases are diagnosed within the first year of life,following presentation of abdominal pain,vomiting,and weight loss and clinical discovery of an abdominal palpable mass.This case report describes a very uncommon symptomatic gastric duplication cyst diagnosed for the first time in adulthood.Only a few other case reports of similar condition exist,and all were identified by endosonography.The current case involves a 52-year-old male who presented with a onemonth history of progressive iron deficiency anemia without overt gastrointestinal bleeding.The patient underwent esophagogastroduodenoscopy,which revealed a 2.0 cm pinkish subepithelial lesion,suspected to be a gastrointestinal stromal tumor(GIST)and source of gastrointestinal bleeding.The endosonography showed inhomogeneous hypoechoic lesions with focal anechoic areas arising from a second and third layer of the gastric wall.Differential diagnoses of GIST,neuroendocrine tumor,or pancreatic heterotopia were made.The lesion was removed using an endoscopic submucosal resection technique.Histopathology revealed an erosive gastric mass composed of a complex structure of dilated gastric glands surrounded by fibro-muscular tissue,fibroblasts,and smooth muscle bundles,which led to the diagnosis of gastric duplication.
文摘Lipoma within jejunal duplication presenting as abdominal bloating and partial intestinal obstruction is an exceptional clinical entity.We report a case of 68-year-old man complaining of abdominal bloating for 10 d due to multiple lipomas arising from jejunal duplication cysts.Only a few cases of a single lipoma within a Meckel’s diverticulum giving rise to this clinical scenario have been reported in the English language literature.However,no case of multiple lipomas within jejunal duplication cysts has been reported.We present a case in which doubleballoon endoscopy revealed a small intestinal structure changed into Meckel’s diverticulum-like cavities containing several lipomas.This case highlights intestinal lipoma as an uncommon cause of adult intussusceptions,which should be included in the differential diagnosis of small intestinal obstruction and appropriate examinations should be chosen.
文摘Duplications of the alimentary tract (ATD) are rare congenital anomalies often found early in life. They may occur anywhere in the intestinal tract but the ileum is the most frequently affected site. Clinical presentation of ATD in adults is variable and because these lesions occur so infrequently they are rarely suspected. In the present report we describe a case of ileal duplication in a 61-year-old patient with Crohn’s disease. Despite various radiological investigations and medical consultations, the diagnosis was only made on the surgical specimen.
文摘Tubular duplication of the colon is very rare especially in adulthood,because it is frequently symptomatic earlier in newborn life,so only few cases are reported in literature.Several theories are proposed to explain the onset and the evolution of gut malformations as the aberrant lumen recanalization or the diverticular theory,the alteration of the lateral closure of the embryonal disk or finally the dorsal protrusion of the yolksac for herniation or adhesion to the ectoderm for an abnormality of the longitudinal line,but none clarifies the exact genesis of duplication.We present a case of "Y-shaped" tubular duplication of the transverse colon in a 21-year-old adult,with a history of chronic pain and constipation,referred to our department for abdominal pain with retrosternal irradiation,treated with the resection of the aberrant bowel.
文摘Duodenal duplication cysts are benign rare congenital anomalies reported mainly in the pediatric population,but seldom in adults.Symptoms depend on the type and location and can present as abdominal pain,distension,dysphagia or dyspepsia.They have been reported to be responsible for duodenal obstruction,pancreatitis and,in rare cases,gastrointestinal bleeding.We present a case of a duodenal duplication cyst in a 43-year-old man presenting as melena.Initial gastroduodenoscopy and colonoscopy did not reveal any bleeding focus.However,the patient began passing melena after 3 d,with an acute decrease in hemoglobin levels.Subsequent studies revealed a duplication cyst in the second portion of the duodenum which was surgically resected.Histology revealed a duodenal duplication cyst consisting of intestinal mucosa.There was no further bleeding and the patient recovered completely.In rare cases,duodenal duplication cysts might cause gastrointestinal bleeding and should be included in the differential diagnosis.
