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
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
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
Gastrointestinal duplication is a congenital rare disease entity. Gastric duplication cysts seem to appear even more rarely. Herein, two duplications cysts of the stomach in a 46 year-old female patient are presented....Gastrointestinal duplication is a congenital rare disease entity. Gastric duplication cysts seem to appear even more rarely. Herein, two duplications cysts of the stomach in a 46 year-old female patient are presented. Abdominal computed tomography demonstrated a cystic lesion attached to the posterior aspect of the gastric fundus, while upper gastrointestinal endoscopy was negative. An exploratory laparotomy revealed a non-communicating cyst and a smaller similar cyst embedded in the gastrosplenic ligament. Excision of both cysts along with the spleen was performed and pathology reported two smooth muscle coated cysts with a pseudostratified ciliated epithelial lining (respiratory type).展开更多
Alimentary tract duplications are rare congenital lesions normally diagnosed in newborns and children that can occur anywhere from the mouth to the anus and have a reported incidence of approximately 1 in 4500 life bi...Alimentary tract duplications are rare congenital lesions normally diagnosed in newborns and children that can occur anywhere from the mouth to the anus and have a reported incidence of approximately 1 in 4500 life births. Symptoms and clinical presentation vary greatly. The presentation varies according to age and location. The treatment finally is surgical; total resection when possible should be the aim of the intervention. In pediatric surgery minimally invasive surgical procedures became more and more important over the last decades. In consequence the operative procedure on alimentary tract duplications changed in this manner. We review on case reports and clinical reports on minimally invasive surgery in the treatment of alimentary tract duplications, determine the importance of minimally invasive techniques in the treatment of this rare entity and rule out that further studies in the field should be performed.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
Colonic intussusception and gastrointestinal duplication are diseases that arise in young children. The clinical presentation of adult cases of intussusception and enteric duplication is non-specific and thus poses a ...Colonic intussusception and gastrointestinal duplication are diseases that arise in young children. The clinical presentation of adult cases of intussusception and enteric duplication is non-specific and thus poses a diagnostic challenge. A computed tomography (CT) scan is recommended in adult cases as the most sensitive diagnostic tool and the pathognomonic finding of outer intussuscepiens and central intussusceptum is diagnostic. A septum of a duplicated colon in a non-intussuscepted segment has been rarely reported in the literature. With advancements in radiological imaging technology and the increased availability of CT scanners, the capacity for a correct pre-operative diagnosis has been significantly enhanced. Our current case report illustrates the importance of considering an uncommon etiology for enteric intussusception and duplication as a differential diagnosis of acute abdomen in an adult patient. Our analyses of this patient also highlight the successful use of CT scanning to make this diagnosis.展开更多
We here report a case of a 18-year-old man with a history of recurrent abdominal pain and a previous episode of severe acute pancreatitis. Abdominal ultrasonography, contrast enhanced multislice computer tomography, e...We here report a case of a 18-year-old man with a history of recurrent abdominal pain and a previous episode of severe acute pancreatitis. Abdominal ultrasonography, contrast enhanced multislice computer tomography, endoscopic retrograde cholangiopancreatography, endoscopic ultrasonography and magnetic resonance imaging demonstrated a cystic mass lesion. Only on delayed phase magnetic resonance images after GadoliniumBOPTA injection, it was possible to demonstrate the lesion's relationship with the biliary tree, differentiating the lesion from intraluminal duodenal diverticulum, and to achieve the diagnosis of duodenal duplication cyst, a recognized rare cause of acute pancreatitis. The diagnosis was confirmed by histology.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
Duplication cyst of the stomach with a pseudostratifie columnar ciliated epithelium is extremely rare.We de scribe two cases of these cysts,with emphasis on the immunophenotype and embryogenesis.The first patien was a...Duplication cyst of the stomach with a pseudostratifie columnar ciliated epithelium is extremely rare.We de scribe two cases of these cysts,with emphasis on the immunophenotype and embryogenesis.The first patien was a 29-year-old man who presented with crampin abdominal pain in his left lower quadrant.The secon patient was a 26-year-old woman who had a history over several years,of chronic epigastric abdominal pai radiating to her back.Both lesions were surgically re moved.They showed the same histomorphology.Th cysts were lined by a pseudostratified respiratory ep thelium with ciliated cells.The first cyst was connecte to the stomach,while the second cyst was not connect ed.Both cysts expressed thyroid transcription factor(TTF-1) and surfactant.In this report,we explore th possible embryogenesis of these lesions in the light o TTF-1 and surfactant expression.展开更多
Gastrointestinal duplications are an uncommon congenital abnormality that manifest before the age of two in 80% of cases. Ileal duplication is the most common while colonic duplication, either cystic or tubular, occur...Gastrointestinal duplications are an uncommon congenital abnormality that manifest before the age of two in 80% of cases. Ileal duplication is the most common while colonic duplication, either cystic or tubular, occurs in 10%-15% of cases and remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients, colonic duplication is encountered in adults in only a few cases. The most common clinical manifestations are abdominal pain and intestinal obstruction. Rarely, duplications present with signs of acute abdomen or acute bleeding. This study reports a case of colonic duplication in an adult who presented with chronic constipation. Complete diagnostic workup was made on several occasions during the previous eight year period, but no pathology was found and chronic constipation was attributed to hypothyroidism caused by long standing Hashimoto thyroiditis. Nultislice CT, performed because of abdominal distension, defined colonic pathology but the definite diagnosis of duplication of the transversal colon was made at operation. The cystic duplication and the adjacent part of the ascending and transversal colon were excised enblock. This study implies that colonic duplication, though uncommon, should be included in the differential diagnosis of chronic constipation even when precipitating factors for constipation, such as hypothyroidism are present.展开更多
A 35-year-old man was admitted due to bloody stool and anemia. The bleeding source could not be detected by esophagogastroduodenoscopy or colonoscopy. Double balloon endoscopy (DBE) revealed a diverticulum-like hole i...A 35-year-old man was admitted due to bloody stool and anemia. The bleeding source could not be detected by esophagogastroduodenoscopy or colonoscopy. Double balloon endoscopy (DBE) revealed a diverticulum-like hole in which coagula stuck in the ileum at 1 meter on the oral side from the ileocecal valve. The adjacent mucosa just to the oral side of the hole was elevated like a submucosal tumor. The lesion was considered the source of bleeding and removed surgically. It was determined to be a cyst with an ileal structure on the mesenteric aspect accompanying gastric mucosa. The diagnosis was a duplication cyst of the ileum,which is a rare entity that can cause gastrointestinal bleeding. In the present case,DBE was used to fi nd the hemorrhagic duplication cyst in the ileum.展开更多
Gastrointestinal duplication is an uncommon congenital abnormality in two-thirds of cases manifesting before the age of 2 years. Ileal duplication is common while colonic duplication, either cystic or tubular, is a ra...Gastrointestinal duplication is an uncommon congenital abnormality in two-thirds of cases manifesting before the age of 2 years. Ileal duplication is common while colonic duplication, either cystic or tubular, is a rather unusual clinical entity that remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients,colonic duplication is encountered in adults only in a few cases. This study reports two cases of colonic duplication in adults. Both cases presented with rectal bleeding on admission. The study was focused on clinical, imaging,histological, and therapeutical aspects of the presenting cases. Gastrografin enema established the diagnosis in both cases. The cystic structure and the adjacent part of the colon were excised en-block. The study implies that colonic duplication, though uncommon, should be included in the differential diagnosis of rectal bleeding.展开更多
Methyl-CpG binding protein 2(MeCP2) is a basic nuclear protein involved in the regulation of gene expression and microRNA processing.Duplication of MECP2-containing genomic segments causes MECP2 duplication syndrome,a...Methyl-CpG binding protein 2(MeCP2) is a basic nuclear protein involved in the regulation of gene expression and microRNA processing.Duplication of MECP2-containing genomic segments causes MECP2 duplication syndrome,a severe neurodevelopmental disorder characterized by intellectual disability,motor dysfunction,heightened anxiety,epilepsy,autistic phenotypes,and early death.Reversal of the abnormal phenotypes in adult mice with MECP2 duplication(MECP2-TG) by normalizing the MeCP2 levels across the whole brain has been demonstrated.However,whether different brain areas or neural circuits contribute to different aspects of the behavioral deficits is still unknown.Here,we found that MECP2-TG mice showed a significant social recognition deficit,and were prone to display aversive-like behaviors,including heightened anxiety-like behaviors and a fear generalization phenotype.In addition,reduced locomotor activity was observed in MECP2-TG mice.However,appetitive behaviors and learning and memory were comparable in MECP2-TG and wild-type mice.Functional magnetic resonance imaging illustrated that the differences between MECP2-TG and wild-type mice were mainly concentrated in brain areas regulating emotion and social behaviors.We used the CRISPR-Cas9 method to restore normal MeCP2 levels in the medial prefrontal cortex(mPFC) and bed nuclei of the stria terminalis(BST) of adult MECP2-TG mice,and found that normalization of MeCP2 levels in the mPFC but not in the BST reversed the social recognition deficit.These data indicate that the mPFC is responsible for the social recognition deficit in the transgenic mice,and provide new insight into potential therapies for MECP2 duplication syndrome.展开更多
To understand the expansion ofmulticopy microRNA （miRNA） families in plants, we localized the reported miRNA genes from Arabidopsis and rice to their chromosomes, respectively, and observed that 37% of 117 miRNA gen...To understand the expansion ofmulticopy microRNA （miRNA） families in plants, we localized the reported miRNA genes from Arabidopsis and rice to their chromosomes, respectively, and observed that 37% of 117 miRNA genes from Arabidopsis and 35% of 173 miRNA genes from rice were segmental duplications in the genome. In order to characterize whether the expression diversification has occurred among plant multicopy miRNA family members, we designed PCR primers targeting 48 predicted miRNA precursors from 10 families in Arabidopsis and rice. Results from RT-PCR data suggest that the transcribed precursors of members within the same miRNA family were present at different expression levels. In addition, although miRl60 and miR162 sequences were conserved in Arabidopsis and rice, we found that the expression patterns of these genes differed between the two species. These data suggested that expression diversification has occurred in multicopy miRNA families, increasing our understanding of the expression regulation of miRNAs in plants.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.
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.
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Gastrointestinal duplication is a congenital rare disease entity. Gastric duplication cysts seem to appear even more rarely. Herein, two duplications cysts of the stomach in a 46 year-old female patient are presented. Abdominal computed tomography demonstrated a cystic lesion attached to the posterior aspect of the gastric fundus, while upper gastrointestinal endoscopy was negative. An exploratory laparotomy revealed a non-communicating cyst and a smaller similar cyst embedded in the gastrosplenic ligament. Excision of both cysts along with the spleen was performed and pathology reported two smooth muscle coated cysts with a pseudostratified ciliated epithelial lining (respiratory type).
文摘Alimentary tract duplications are rare congenital lesions normally diagnosed in newborns and children that can occur anywhere from the mouth to the anus and have a reported incidence of approximately 1 in 4500 life births. Symptoms and clinical presentation vary greatly. The presentation varies according to age and location. The treatment finally is surgical; total resection when possible should be the aim of the intervention. In pediatric surgery minimally invasive surgical procedures became more and more important over the last decades. In consequence the operative procedure on alimentary tract duplications changed in this manner. We review on case reports and clinical reports on minimally invasive surgery in the treatment of alimentary tract duplications, determine the importance of minimally invasive techniques in the treatment of this rare entity and rule out that further studies in the field should be performed.
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Colonic intussusception and gastrointestinal duplication are diseases that arise in young children. The clinical presentation of adult cases of intussusception and enteric duplication is non-specific and thus poses a diagnostic challenge. A computed tomography (CT) scan is recommended in adult cases as the most sensitive diagnostic tool and the pathognomonic finding of outer intussuscepiens and central intussusceptum is diagnostic. A septum of a duplicated colon in a non-intussuscepted segment has been rarely reported in the literature. With advancements in radiological imaging technology and the increased availability of CT scanners, the capacity for a correct pre-operative diagnosis has been significantly enhanced. Our current case report illustrates the importance of considering an uncommon etiology for enteric intussusception and duplication as a differential diagnosis of acute abdomen in an adult patient. Our analyses of this patient also highlight the successful use of CT scanning to make this diagnosis.
文摘We here report a case of a 18-year-old man with a history of recurrent abdominal pain and a previous episode of severe acute pancreatitis. Abdominal ultrasonography, contrast enhanced multislice computer tomography, endoscopic retrograde cholangiopancreatography, endoscopic ultrasonography and magnetic resonance imaging demonstrated a cystic mass lesion. Only on delayed phase magnetic resonance images after GadoliniumBOPTA injection, it was possible to demonstrate the lesion's relationship with the biliary tree, differentiating the lesion from intraluminal duodenal diverticulum, and to achieve the diagnosis of duodenal duplication cyst, a recognized rare cause of acute pancreatitis. The diagnosis was confirmed by histology.
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Duplication cyst of the stomach with a pseudostratifie columnar ciliated epithelium is extremely rare.We de scribe two cases of these cysts,with emphasis on the immunophenotype and embryogenesis.The first patien was a 29-year-old man who presented with crampin abdominal pain in his left lower quadrant.The secon patient was a 26-year-old woman who had a history over several years,of chronic epigastric abdominal pai radiating to her back.Both lesions were surgically re moved.They showed the same histomorphology.Th cysts were lined by a pseudostratified respiratory ep thelium with ciliated cells.The first cyst was connecte to the stomach,while the second cyst was not connect ed.Both cysts expressed thyroid transcription factor(TTF-1) and surfactant.In this report,we explore th possible embryogenesis of these lesions in the light o TTF-1 and surfactant expression.
文摘Gastrointestinal duplications are an uncommon congenital abnormality that manifest before the age of two in 80% of cases. Ileal duplication is the most common while colonic duplication, either cystic or tubular, occurs in 10%-15% of cases and remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients, colonic duplication is encountered in adults in only a few cases. The most common clinical manifestations are abdominal pain and intestinal obstruction. Rarely, duplications present with signs of acute abdomen or acute bleeding. This study reports a case of colonic duplication in an adult who presented with chronic constipation. Complete diagnostic workup was made on several occasions during the previous eight year period, but no pathology was found and chronic constipation was attributed to hypothyroidism caused by long standing Hashimoto thyroiditis. Nultislice CT, performed because of abdominal distension, defined colonic pathology but the definite diagnosis of duplication of the transversal colon was made at operation. The cystic duplication and the adjacent part of the ascending and transversal colon were excised enblock. This study implies that colonic duplication, though uncommon, should be included in the differential diagnosis of chronic constipation even when precipitating factors for constipation, such as hypothyroidism are present.
文摘A 35-year-old man was admitted due to bloody stool and anemia. The bleeding source could not be detected by esophagogastroduodenoscopy or colonoscopy. Double balloon endoscopy (DBE) revealed a diverticulum-like hole in which coagula stuck in the ileum at 1 meter on the oral side from the ileocecal valve. The adjacent mucosa just to the oral side of the hole was elevated like a submucosal tumor. The lesion was considered the source of bleeding and removed surgically. It was determined to be a cyst with an ileal structure on the mesenteric aspect accompanying gastric mucosa. The diagnosis was a duplication cyst of the ileum,which is a rare entity that can cause gastrointestinal bleeding. In the present case,DBE was used to fi nd the hemorrhagic duplication cyst in the ileum.
文摘Gastrointestinal duplication is an uncommon congenital abnormality in two-thirds of cases manifesting before the age of 2 years. Ileal duplication is common while colonic duplication, either cystic or tubular, is a rather unusual clinical entity that remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients,colonic duplication is encountered in adults only in a few cases. This study reports two cases of colonic duplication in adults. Both cases presented with rectal bleeding on admission. The study was focused on clinical, imaging,histological, and therapeutical aspects of the presenting cases. Gastrografin enema established the diagnosis in both cases. The cystic structure and the adjacent part of the colon were excised en-block. The study implies that colonic duplication, though uncommon, should be included in the differential diagnosis of rectal bleeding.
基金supported by National Natural Science Foundation of China grants (31625013 and 91732302)a Shanghai Brain-Intelligence Project of the Science and Technology Commission of Shanghai Municipality(16JC1420501)+4 种基金the Strategic Priority Research Program of the Chinese Academy of Sciences (XDBS01060200)Program of Shanghai Academic Research Leaderthe Open Large Infrastructure Research of Chinese Academy of Sciencesthe Shanghai Municipal Science and Technology Major Project (2018SHZDZX05)National Natural Science Foundation of China (81801354)。
文摘Methyl-CpG binding protein 2(MeCP2) is a basic nuclear protein involved in the regulation of gene expression and microRNA processing.Duplication of MECP2-containing genomic segments causes MECP2 duplication syndrome,a severe neurodevelopmental disorder characterized by intellectual disability,motor dysfunction,heightened anxiety,epilepsy,autistic phenotypes,and early death.Reversal of the abnormal phenotypes in adult mice with MECP2 duplication(MECP2-TG) by normalizing the MeCP2 levels across the whole brain has been demonstrated.However,whether different brain areas or neural circuits contribute to different aspects of the behavioral deficits is still unknown.Here,we found that MECP2-TG mice showed a significant social recognition deficit,and were prone to display aversive-like behaviors,including heightened anxiety-like behaviors and a fear generalization phenotype.In addition,reduced locomotor activity was observed in MECP2-TG mice.However,appetitive behaviors and learning and memory were comparable in MECP2-TG and wild-type mice.Functional magnetic resonance imaging illustrated that the differences between MECP2-TG and wild-type mice were mainly concentrated in brain areas regulating emotion and social behaviors.We used the CRISPR-Cas9 method to restore normal MeCP2 levels in the medial prefrontal cortex(mPFC) and bed nuclei of the stria terminalis(BST) of adult MECP2-TG mice,and found that normalization of MeCP2 levels in the mPFC but not in the BST reversed the social recognition deficit.These data indicate that the mPFC is responsible for the social recognition deficit in the transgenic mice,and provide new insight into potential therapies for MECP2 duplication syndrome.
基金We acknowledge Prof HerváVaucheret for kindly supplying the agol-27 mutant and Dr Xuemei Chen for helpful suggestions and reviewing this manuscript.This work was supported by the Fund of National Key Basic Research Developments Program of the Ministry of Science and Technology China(2001CB109002)National Natural Science Foundation of China(30370893)+2 种基金Shanghai Municipal Committee of Science and Technology(03JC14061)the Program for New Century Excellent Talents in University(NCET-04-0403)the ShuGuang Scholarship(04SG15).
文摘To understand the expansion ofmulticopy microRNA （miRNA） families in plants, we localized the reported miRNA genes from Arabidopsis and rice to their chromosomes, respectively, and observed that 37% of 117 miRNA genes from Arabidopsis and 35% of 173 miRNA genes from rice were segmental duplications in the genome. In order to characterize whether the expression diversification has occurred among plant multicopy miRNA family members, we designed PCR primers targeting 48 predicted miRNA precursors from 10 families in Arabidopsis and rice. Results from RT-PCR data suggest that the transcribed precursors of members within the same miRNA family were present at different expression levels. In addition, although miRl60 and miR162 sequences were conserved in Arabidopsis and rice, we found that the expression patterns of these genes differed between the two species. These data suggested that expression diversification has occurred in multicopy miRNA families, increasing our understanding of the expression regulation of miRNAs in plants.
