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
Anthocyanin biosynthesis in plants is spatiotemporally controlled by a suite of transcription factors,with MYB proteins playing a key regulatory role.However,the evolution of the distinct roles of MYB paralogs remains...Anthocyanin biosynthesis in plants is spatiotemporally controlled by a suite of transcription factors,with MYB proteins playing a key regulatory role.However,the evolution of the distinct roles of MYB paralogs remains poorly understood.Our previous studies have established GmMYBA2 and GmMYBA3 as the regulators of seed coat and floral anthocyanin production in soybean(Glycine max),respectively.In this study,we reveal the functional divergence of their paralog GmMYBA1 in orchestrating light-responsive anthocyanin biosynthesis in juvenile tissues and stems.In brief,hypocotyl/stem-and young leaf-predominant expression of GmMYBA1 correlates with photoprotective anthocyanin accumulation.Ectopic overexpression of GmMYBA1 induces systemic pigmentation across leaves,stems,and reproductive organs,whereas RNAi-mediated silencing of GmMYBA1 significantly reduces anthocyanin accumulation in the hypocotyl.Light-dark shift assays confirmed that GmMYBA1 is required for hypocotyl pigmentation,while dual-luciferase assays revealed the specific regulation of the GmMYBA paralogs by GmSTF1/2(soybean TGACG-motif binding factor 1/2).GmSTF1/2 both activate GmMYBA1,with only GmSTF2 weakly inducing GmMYBA2 and neither affecting GmMYBA3.Further investigation indicated that the differential transactivation of GmMYBA promoters largely resulted from their cis-element difference,suggesting regulatory divergence as a driver of MYB paralog diversification.Our findings position GmMYBA1 as the central MYB activator integrating light signaling with anthocyanin biosynthesis,with paralog specialization reflecting evolutionary subfunctionalization post-gene duplication.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
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.
基金supported by the Department of Science and Technology of Jilin Province(20220508112RC).
文摘Anthocyanin biosynthesis in plants is spatiotemporally controlled by a suite of transcription factors,with MYB proteins playing a key regulatory role.However,the evolution of the distinct roles of MYB paralogs remains poorly understood.Our previous studies have established GmMYBA2 and GmMYBA3 as the regulators of seed coat and floral anthocyanin production in soybean(Glycine max),respectively.In this study,we reveal the functional divergence of their paralog GmMYBA1 in orchestrating light-responsive anthocyanin biosynthesis in juvenile tissues and stems.In brief,hypocotyl/stem-and young leaf-predominant expression of GmMYBA1 correlates with photoprotective anthocyanin accumulation.Ectopic overexpression of GmMYBA1 induces systemic pigmentation across leaves,stems,and reproductive organs,whereas RNAi-mediated silencing of GmMYBA1 significantly reduces anthocyanin accumulation in the hypocotyl.Light-dark shift assays confirmed that GmMYBA1 is required for hypocotyl pigmentation,while dual-luciferase assays revealed the specific regulation of the GmMYBA paralogs by GmSTF1/2(soybean TGACG-motif binding factor 1/2).GmSTF1/2 both activate GmMYBA1,with only GmSTF2 weakly inducing GmMYBA2 and neither affecting GmMYBA3.Further investigation indicated that the differential transactivation of GmMYBA promoters largely resulted from their cis-element difference,suggesting regulatory divergence as a driver of MYB paralog diversification.Our findings position GmMYBA1 as the central MYB activator integrating light signaling with anthocyanin biosynthesis,with paralog specialization reflecting evolutionary subfunctionalization post-gene duplication.
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.
