BACKGROUND Congenital enteric duplication cysts are tubular or cystic structures that normally lie alongside the gastrointestinal(GI)tract.Enteric duplication cysts are typically solitary lesions that occur anywhere n...BACKGROUND Congenital enteric duplication cysts are tubular or cystic structures that normally lie alongside the gastrointestinal(GI)tract.Enteric duplication cysts are typically solitary lesions that occur anywhere near the GI tract from the neck to the rectum,but having multiple duplication cysts is rare,and presentation within the pancreas is extremely rare.CASE SUMMARY We herein demonstrate a case of esophageal,gastric,and gastric-type duplication cyst of the pancreas in a seventeen-month-old girl who presented with failure to thrive,abdominal pain,vomiting,hematemesis,and melena since the age of three months.The cysts were excised by thoracoscopy and laparoscopy in the same setting.To our knowledge,no such case has been published.CONCLUSION Enteric duplications can occur throughout the entire alimentary tract.When they occur in the pancreas,they present a formidable challenge in both diagnosis and treatment.Due to the risk of complications and malignant transformation,surgical removal is the recommended treatment of all duplication cysts.展开更多
Supernumerary urethra in boys is a very rare anatomical entity. Sagittal urethral duplications are classified into four groups: epispadias, hypospadias, fusiform and Y-shaped urethra. The most widely used classificati...Supernumerary urethra in boys is a very rare anatomical entity. Sagittal urethral duplications are classified into four groups: epispadias, hypospadias, fusiform and Y-shaped urethra. The most widely used classification is that of Effmann and Lebowitz, which describes 6 types, one of the rarest being the ‘Y’ subtype IIA2, which corresponds to a duplicated urethral path from the vesical neck to an ectopic perineal or anal outlet. We report here the case of a 4-year-old child presenting with subtype IIA2 with a perineal orifice and no other urinary disorders.展开更多
Purpose:To reveal the typical features of text duplication in papers from four medical fields:basic medicine,health management,pharmacology and pharmacy,and public health and preventive medicine.To analyze the reasons...Purpose:To reveal the typical features of text duplication in papers from four medical fields:basic medicine,health management,pharmacology and pharmacy,and public health and preventive medicine.To analyze the reasons for duplication and provide suggestions for the management of medical academic misconduct.Design/methodology/approach:In total,2,469 representative Chinese journal papers were included in our research,which were submitted by researchers in 2020 and 2021.A plagiarism check was carried out using the Academic Misconduct Literature Check System(AMLC).We generated a corrected similarity index based on the AMLC general similarity index for further analysis.We compared the similarity indices of papers in four medical fields and revealed their trends over time;differences in similarity index between review and research articles were also analyzed according to the different fields.Further analysis of 143 papers suspected of plagiarism was also performed from the perspective of sections containing duplication and according to the field of research.Findings:Papers in the field of pharmacology and pharmacy had the highest similarity index(8.67±5.92%),which was significantly higher than that in other fields,except health management.The similarity index of review articles(9.77±10.28%)was significantly higher than that of research articles(7.41±6.26%).In total,143 papers were suspected of plagiarism(5.80%)with similarity indices≥15%;most were papers on health management(78,54.55%),followed by public health and preventive medicine(38,26.58%);90.21%of the 143 papers had duplication in multiple sections,while only 9.79%had duplication in a single section.The distribution of sections with duplication varied among different fields;papers in pharmacology and pharmacy were more likely to have duplication in the data/methods and introduction/background sections,however,papers in health management were more likely to contain duplication in the introduction/background or results/discussion sections.Different structures for papers in different fields may have caused these differences.Research limitations:There were three limitations to our research.Firstly,we observed that a small number of papers have been checked early.It is unknown who conducted the plagiarism check as this can be included in other evaluations,such as applications for Science and technology projects or awards.If the authors carried out the check,text with high similarity indices may have been excluded before submission,meaning the similarity index in our research may have been lower than the original value.Secondly,there were only four medical fields included in our research.Additional analysis on a wider scale is required in the future.Thirdly,only a general similarity index was calculated in our study;other similarity indices were not tested.Practical implications:A comprehensive analysis of similarity indices in four medical fields was performed.We made several recommendations for the supervision of medical academic misconduct and the formation of criteria for defining suspected plagiarism for medical papers,as well as for the improved accuracy of text duplication checks.Originality/value:We quantified the differences between the AMLC general similarity index and the corrected index,described the situation around text duplication and plagiarism in papers from four medical fields,and revealed differences in similarity indices between different article types.We also revealed differences in the sections containing duplication for papers with suspected plagiarism among different fields.展开更多
BACKGROUND Although intestinal obstruction is one of the most common surgical emergencies in an infant,it is difficult to diagnose neonatal enteric duplication cysts(EDC)preoperatively owing to their rarity as a cause...BACKGROUND Although intestinal obstruction is one of the most common surgical emergencies in an infant,it is difficult to diagnose neonatal enteric duplication cysts(EDC)preoperatively owing to their rarity as a cause of intestinal obstruction.We describe a case report of a neonatal EDC presenting intestinal obstruction and shock.CASE SUMMARY A 32-d-old male infant with a prenatal sonographic finding of bladder distension was admitted to our hospital for a severely distended abdomen,fever,and oliguria.The first diagnostic hypothesis was septic shock and intestinal obstruction.The patient’s symptoms worsened;following an emergency surgical exploratory laparotomy and histopathological findings,the final diagnosis of cecal duplication cyst was confirmed.The patient’s postoperative course was uneventful,and on the fifth postoperative day,oral feeding restarted.Twenty days later,the patient was discharged from the hospital.CONCLUSION Although EDC located in the cecum is exceptional,it should be considered when evaluating suspected intestinal obstruction and shock.展开更多
BACKGROUND Gastric duplication cysts are very rare disease that are mainly diagnosed by endoscopic ultrasonographic fine-needle aspiration biopsy.In the past,this disease was usually treated with traditional surgery a...BACKGROUND Gastric duplication cysts are very rare disease that are mainly diagnosed by endoscopic ultrasonographic fine-needle aspiration biopsy.In the past,this disease was usually treated with traditional surgery and rarely with minimally invasive endoscopic surgery.However,minimally invasive endoscopic therapy has many advantages,such as no skin wound,organ preservation,postoperative pain reduction,early food intake,fewer postoperative complications,and shorter post-procedure hospitalization.CASE SUMMARY We report a case of endoscopic ultrasonography-guided fine-needle aspiration(EUS-FNA)combined with lauromacrogol sclerotherapy for pyloric obstruction due to gastric duplication cysts.CONCLUSION EUS-FNA combined with lauromacrogol sclerotherapy provides a new option for the treatment of gastrointestinal duplication cysts.展开更多
BACKGROUND Chromosomal Xq28 region duplication encompassing methyl-CpG-binding protein 2(MECP2)results in an identifiable phenotype and global developmental delay known as MECP2 duplication syndrome(MDS).This syndrome...BACKGROUND Chromosomal Xq28 region duplication encompassing methyl-CpG-binding protein 2(MECP2)results in an identifiable phenotype and global developmental delay known as MECP2 duplication syndrome(MDS).This syndrome has a wide range of clinical manifestations,including abnormalities in appearance,neurodevelopment,and gastrointestinal motility;recurrent infections;and spasticity.Here,we report a case of confirmed MDS at our institution.CASE SUMMARY A 12-year-old Chinese boy presented with intellectual disability(poor intellectual[reasoning,judgment,abstract thinking,and learning]and adaptive[lack of communication and absent social skills,apraxia,and ataxia]functioning)and dysmorphism.He had no history of recurrent infections,seizures,or bowel dysfunction,which is different from that in reported cases.Microarray comparative genomic hybridization confirmed MECP2 duplication in the patient and his mother who is a carrier.The duplication size was the same in the patient and his mother.No prophylactic antibiotic or anti-seizure therapy was offered to the patient or his mother before or after the consultation.CONCLUSION MDS is rare and has various clinical presentations.Clinical suspicion is critical in patients presenting with developmental delays.展开更多
Urethral duplication is a rare congenital anomaly, mainly involving boys, although cases in girls have been reported. The majority of duplications of the urethra are asymptomatic and the discovery of this malformation...Urethral duplication is a rare congenital anomaly, mainly involving boys, although cases in girls have been reported. The majority of duplications of the urethra are asymptomatic and the discovery of this malformation can be done at any age. Diagnosis and determination of its type are based on urethrocystography with mid-void images, which helps to guide the surgical approach. The treatment is not yet well codified and the therapeutic attitude varies from one author to another. We report a clinical observation of a urethral duplication with a calculus in a six-year-old boy who underwent a partial urethrectomy of the supernumerary urethra in whom a lithotomy and a urethrectomy were performed via a suspension approach. This observation illustrates the possibility of urinary stone formation after partial urethrectomy of the supernumerary urethra.展开更多
Evidence-based literature reviews play a vital role in contemporary research,facilitating the synthesis of knowledge from multiple sources to inform decisionmaking and scientific advancements.Within this framework,de-...Evidence-based literature reviews play a vital role in contemporary research,facilitating the synthesis of knowledge from multiple sources to inform decisionmaking and scientific advancements.Within this framework,de-duplication emerges as a part of the process for ensuring the integrity and reliability of evidence extraction.This opinion review delves into the evolution of de-duplication,highlights its importance in evidence synthesis,explores various de-duplication methods,discusses evolving technologies,and proposes best practices.By addressing ethical considerations this paper emphasizes the significance of deduplication as a cornerstone for quality in evidence-based literature reviews.展开更多
BACKGROUND A combination of diseases is a rare phenomenon.Their clinical manifestations can vary,and the diagnosis can be challenging.Intestinal duplication is a rare congenital malformation,whereas retroperitoneal te...BACKGROUND A combination of diseases is a rare phenomenon.Their clinical manifestations can vary,and the diagnosis can be challenging.Intestinal duplication is a rare congenital malformation,whereas retroperitoneal teratoma is a tumor in the retroperitoneal space,derived from the remaining embryonic tissue.There are relatively few clinical findings on adult retroperitoneal benign tumors.It is hard to believe that these two rare diseases can happen to the same person.CASE SUMMARY A 19-year-old woman complaining of abdominal pain with nausea and vomiting was admitted.Abdominal computed tomography angiography was suggested for invasive teratoma.Intraoperative exploration revealed that the giant teratoma was connected to an isolated intestinal tract in the retroperitoneum.The postoperative pathological examination revealed that mature giant teratoma was present with intestinal duplication.This was a rare intraoperative finding that was successfully treated surgically.CONCLUSION The clinical manifestations of intestinal duplication malformation are various,and difficult to diagnose before the operation.The possibility of intestinal replication should be considered when intraperitoneal cystic lesions are present.展开更多
Ureteral duplication is congenital malformative uropathy that occurs most often in children. Complete ureteral duplication is defined by a kidney that has two ureters with two orifices that communicate to the bladder ...Ureteral duplication is congenital malformative uropathy that occurs most often in children. Complete ureteral duplication is defined by a kidney that has two ureters with two orifices that communicate to the bladder through two ureteral meati. It is an anatomical variant that remains rare. Its early discovery is due to a lack of diagnostic means, hence the occurrence of long-term complications. To this end, we observe an increased importance of the morbidity linked to the late diagnosis of this duplicity. We report a case of incomplete ureteral duplication complicated by ureterohydronephrosis on lithiasis wedged in the uretero-vesical junction of one of the ureters in its lower portion which required uretero-lithotomy with bladder reimplantation of the ureters. Our aim was to show the importance of the morbidity associated with late diagnosis of this anomaly and the incidence of infection and complications that this pathology poses as a problem. This was a clinical case of fortuitous discovery managed by a general surgeon in the general surgery department of the hospital “Mère Enfant” Le Luxembourg Bamako Mali. The suites were simple.展开更多
This report describes a considerably rare case of high-grade urothelial carcinoma of the renal pelvis and ureter,presenting with heterologous differentiation,in a patient with bilateral duplicated kidneys.A 73-year-ol...This report describes a considerably rare case of high-grade urothelial carcinoma of the renal pelvis and ureter,presenting with heterologous differentiation,in a patient with bilateral duplicated kidneys.A 73-year-old male experienced intermittent gross hematuria for 5 months,accompanied by lower back and abdominal pain.Ultrasound and computed tomography scans revealed bilateral renal and ureteral duplication with multiple tumors in the left renal pelvis.A total nephroterectomy and bladder cuff resection were performed on the left two nephrons.Multiple space-occupying lesions were identified in the left renal pelvis and ureter.Histopathological examination showed poorly differentiated and diverse tumor cells,manifesting as sarcomatoid carcinoma,papillary adenocarcinoma,and infiltrating high-grade urothelial carcinoma.The tumor infiltrated the subcutaneous fibrous connective tissue of the renal pelvis and the full thickness of the ureter.Given the rarity of recurrent renal urothelial carcinoma with heterogeneous differentiation,comprehensive imaging and pathological assessments are vital to delineate the nature of the lesion and the direction of tissue pathological heterologous differentiation.These evaluations guide early radical surgical interventions,improving survival rates.展开更多
Understanding gene expression variations between species is pivotal for deciphering the evolutionary diversity in phenotypes. Rhesus macaques(Macaca mulatta, MMU)and crab-eating macaques(M. fascicularis, MFA) serve as...Understanding gene expression variations between species is pivotal for deciphering the evolutionary diversity in phenotypes. Rhesus macaques(Macaca mulatta, MMU)and crab-eating macaques(M. fascicularis, MFA) serve as crucial nonhuman primate biomedical models with different phenotypes. To date, however, large-scale comparative transcriptome research between these two species has not yet been fully explored. Here, we conducted systematic comparisons utilizing newly sequenced RNA-seq data from84 samples(41 MFA samples and 43 MMU samples)encompassing 14 common tissues. Our findings revealed a small fraction of genes(3.7%) with differential expression between the two species, as well as 36.5% of genes with tissue-specific expression in both macaques. Comparison of gene expression between macaques and humans indicated that 22.6% of orthologous genes displayed differential expression in at least two tissues. Moreover,19.41% of genes that overlapped with macaque-specific structural variants showed differential expression between humans and macaques. Of these, the FAM220A gene exhibited elevated expression in humans compared to macaques due to lineage-specific duplication. In summary,this study presents a large-scale transcriptomic comparison between MMU and MFA and between macaques and humans. The discovery of gene expression variations not only enhances the biomedical utility of macaque models but also contributes to the wider field of primate genomics.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
目的分析内听道重复畸形(duplication of the internal auditory canal,DIAC)患者CT及MRI影像学表现,提高对该畸形的认识,为人工耳蜗植入提供术前依据。方法回顾性观察20例(24耳)DIAC患者内耳多层螺旋CT(MSCT)及MRI资料,测量并分析病变...目的分析内听道重复畸形(duplication of the internal auditory canal,DIAC)患者CT及MRI影像学表现,提高对该畸形的认识,为人工耳蜗植入提供术前依据。方法回顾性观察20例(24耳)DIAC患者内耳多层螺旋CT(MSCT)及MRI资料,测量并分析病变组与对照组内听道及蜗神经孔宽度。结果DIAC均为内听道狭窄及合并其他颞骨畸形。MSCT示21耳、MRI水成像示16耳内听道由骨性分隔成双管。MRI水成像示前庭蜗神经纤细。病变、对照组内听道宽度及蜗神经孔宽度均有统计学差异(P<0.001)。6例(8耳)行人工耳蜗植入术后听力均有不同程度恢复。结论DIAC均显示内听道狭窄,MSCT所示骨性分隔为其特征性征象,MRI水成像示前庭蜗神经发育不良,联合两种影像检查方法可为本病诊断和人工听觉植入提供客观参考依据。展开更多
In tea plants,the abundant flavonoid compounds are responsible for the health benefits for the human body and define the astringent flavor profile.While the downstream mechanisms of flavonoid biosynthesis have been ex...In tea plants,the abundant flavonoid compounds are responsible for the health benefits for the human body and define the astringent flavor profile.While the downstream mechanisms of flavonoid biosynthesis have been extensively studied,the role of chalcone synthase(CHS)in this secondary metabolic process in tea plants remains less clear.In this study,we compared the evolutionary profile of the flavonoid metabolism pathway and discovered that gene duplication of CHS occurred in tea plants.We identified three CsCHS genes,along with a CsCHS-like gene,as potential candidates for further functional investigation.Unlike the CsCHS-like gene,the CsCHS genes effectively restored flavonoid production in Arabidopsis chs-mutants.Additionally,CsCHS transgenic tobacco plants exhibited higher flavonoid compound accumulation compared to their wild-type counterparts.Most notably,our examination of promoter and gene expression levels for the selected CHS genes revealed distinct responses to UV-B stress in tea plants.Our findings suggest that environmental factors such as UV-B exposure could have been the key drivers behind the gene duplication events in CHS.展开更多
文摘BACKGROUND Congenital enteric duplication cysts are tubular or cystic structures that normally lie alongside the gastrointestinal(GI)tract.Enteric duplication cysts are typically solitary lesions that occur anywhere near the GI tract from the neck to the rectum,but having multiple duplication cysts is rare,and presentation within the pancreas is extremely rare.CASE SUMMARY We herein demonstrate a case of esophageal,gastric,and gastric-type duplication cyst of the pancreas in a seventeen-month-old girl who presented with failure to thrive,abdominal pain,vomiting,hematemesis,and melena since the age of three months.The cysts were excised by thoracoscopy and laparoscopy in the same setting.To our knowledge,no such case has been published.CONCLUSION Enteric duplications can occur throughout the entire alimentary tract.When they occur in the pancreas,they present a formidable challenge in both diagnosis and treatment.Due to the risk of complications and malignant transformation,surgical removal is the recommended treatment of all duplication cysts.
文摘Supernumerary urethra in boys is a very rare anatomical entity. Sagittal urethral duplications are classified into four groups: epispadias, hypospadias, fusiform and Y-shaped urethra. The most widely used classification is that of Effmann and Lebowitz, which describes 6 types, one of the rarest being the ‘Y’ subtype IIA2, which corresponds to a duplicated urethral path from the vesical neck to an ectopic perineal or anal outlet. We report here the case of a 4-year-old child presenting with subtype IIA2 with a perineal orifice and no other urinary disorders.
基金supported by Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences (Grant No.2021-I2M-1-033)。
文摘Purpose:To reveal the typical features of text duplication in papers from four medical fields:basic medicine,health management,pharmacology and pharmacy,and public health and preventive medicine.To analyze the reasons for duplication and provide suggestions for the management of medical academic misconduct.Design/methodology/approach:In total,2,469 representative Chinese journal papers were included in our research,which were submitted by researchers in 2020 and 2021.A plagiarism check was carried out using the Academic Misconduct Literature Check System(AMLC).We generated a corrected similarity index based on the AMLC general similarity index for further analysis.We compared the similarity indices of papers in four medical fields and revealed their trends over time;differences in similarity index between review and research articles were also analyzed according to the different fields.Further analysis of 143 papers suspected of plagiarism was also performed from the perspective of sections containing duplication and according to the field of research.Findings:Papers in the field of pharmacology and pharmacy had the highest similarity index(8.67±5.92%),which was significantly higher than that in other fields,except health management.The similarity index of review articles(9.77±10.28%)was significantly higher than that of research articles(7.41±6.26%).In total,143 papers were suspected of plagiarism(5.80%)with similarity indices≥15%;most were papers on health management(78,54.55%),followed by public health and preventive medicine(38,26.58%);90.21%of the 143 papers had duplication in multiple sections,while only 9.79%had duplication in a single section.The distribution of sections with duplication varied among different fields;papers in pharmacology and pharmacy were more likely to have duplication in the data/methods and introduction/background sections,however,papers in health management were more likely to contain duplication in the introduction/background or results/discussion sections.Different structures for papers in different fields may have caused these differences.Research limitations:There were three limitations to our research.Firstly,we observed that a small number of papers have been checked early.It is unknown who conducted the plagiarism check as this can be included in other evaluations,such as applications for Science and technology projects or awards.If the authors carried out the check,text with high similarity indices may have been excluded before submission,meaning the similarity index in our research may have been lower than the original value.Secondly,there were only four medical fields included in our research.Additional analysis on a wider scale is required in the future.Thirdly,only a general similarity index was calculated in our study;other similarity indices were not tested.Practical implications:A comprehensive analysis of similarity indices in four medical fields was performed.We made several recommendations for the supervision of medical academic misconduct and the formation of criteria for defining suspected plagiarism for medical papers,as well as for the improved accuracy of text duplication checks.Originality/value:We quantified the differences between the AMLC general similarity index and the corrected index,described the situation around text duplication and plagiarism in papers from four medical fields,and revealed differences in similarity indices between different article types.We also revealed differences in the sections containing duplication for papers with suspected plagiarism among different fields.
基金Supported by the Soonchunhyang University Research Fund.
文摘BACKGROUND Although intestinal obstruction is one of the most common surgical emergencies in an infant,it is difficult to diagnose neonatal enteric duplication cysts(EDC)preoperatively owing to their rarity as a cause of intestinal obstruction.We describe a case report of a neonatal EDC presenting intestinal obstruction and shock.CASE SUMMARY A 32-d-old male infant with a prenatal sonographic finding of bladder distension was admitted to our hospital for a severely distended abdomen,fever,and oliguria.The first diagnostic hypothesis was septic shock and intestinal obstruction.The patient’s symptoms worsened;following an emergency surgical exploratory laparotomy and histopathological findings,the final diagnosis of cecal duplication cyst was confirmed.The patient’s postoperative course was uneventful,and on the fifth postoperative day,oral feeding restarted.Twenty days later,the patient was discharged from the hospital.CONCLUSION Although EDC located in the cecum is exceptional,it should be considered when evaluating suspected intestinal obstruction and shock.
文摘BACKGROUND Gastric duplication cysts are very rare disease that are mainly diagnosed by endoscopic ultrasonographic fine-needle aspiration biopsy.In the past,this disease was usually treated with traditional surgery and rarely with minimally invasive endoscopic surgery.However,minimally invasive endoscopic therapy has many advantages,such as no skin wound,organ preservation,postoperative pain reduction,early food intake,fewer postoperative complications,and shorter post-procedure hospitalization.CASE SUMMARY We report a case of endoscopic ultrasonography-guided fine-needle aspiration(EUS-FNA)combined with lauromacrogol sclerotherapy for pyloric obstruction due to gastric duplication cysts.CONCLUSION EUS-FNA combined with lauromacrogol sclerotherapy provides a new option for the treatment of gastrointestinal duplication cysts.
文摘BACKGROUND Chromosomal Xq28 region duplication encompassing methyl-CpG-binding protein 2(MECP2)results in an identifiable phenotype and global developmental delay known as MECP2 duplication syndrome(MDS).This syndrome has a wide range of clinical manifestations,including abnormalities in appearance,neurodevelopment,and gastrointestinal motility;recurrent infections;and spasticity.Here,we report a case of confirmed MDS at our institution.CASE SUMMARY A 12-year-old Chinese boy presented with intellectual disability(poor intellectual[reasoning,judgment,abstract thinking,and learning]and adaptive[lack of communication and absent social skills,apraxia,and ataxia]functioning)and dysmorphism.He had no history of recurrent infections,seizures,or bowel dysfunction,which is different from that in reported cases.Microarray comparative genomic hybridization confirmed MECP2 duplication in the patient and his mother who is a carrier.The duplication size was the same in the patient and his mother.No prophylactic antibiotic or anti-seizure therapy was offered to the patient or his mother before or after the consultation.CONCLUSION MDS is rare and has various clinical presentations.Clinical suspicion is critical in patients presenting with developmental delays.
文摘Urethral duplication is a rare congenital anomaly, mainly involving boys, although cases in girls have been reported. The majority of duplications of the urethra are asymptomatic and the discovery of this malformation can be done at any age. Diagnosis and determination of its type are based on urethrocystography with mid-void images, which helps to guide the surgical approach. The treatment is not yet well codified and the therapeutic attitude varies from one author to another. We report a clinical observation of a urethral duplication with a calculus in a six-year-old boy who underwent a partial urethrectomy of the supernumerary urethra in whom a lithotomy and a urethrectomy were performed via a suspension approach. This observation illustrates the possibility of urinary stone formation after partial urethrectomy of the supernumerary urethra.
文摘Evidence-based literature reviews play a vital role in contemporary research,facilitating the synthesis of knowledge from multiple sources to inform decisionmaking and scientific advancements.Within this framework,de-duplication emerges as a part of the process for ensuring the integrity and reliability of evidence extraction.This opinion review delves into the evolution of de-duplication,highlights its importance in evidence synthesis,explores various de-duplication methods,discusses evolving technologies,and proposes best practices.By addressing ethical considerations this paper emphasizes the significance of deduplication as a cornerstone for quality in evidence-based literature reviews.
文摘BACKGROUND A combination of diseases is a rare phenomenon.Their clinical manifestations can vary,and the diagnosis can be challenging.Intestinal duplication is a rare congenital malformation,whereas retroperitoneal teratoma is a tumor in the retroperitoneal space,derived from the remaining embryonic tissue.There are relatively few clinical findings on adult retroperitoneal benign tumors.It is hard to believe that these two rare diseases can happen to the same person.CASE SUMMARY A 19-year-old woman complaining of abdominal pain with nausea and vomiting was admitted.Abdominal computed tomography angiography was suggested for invasive teratoma.Intraoperative exploration revealed that the giant teratoma was connected to an isolated intestinal tract in the retroperitoneum.The postoperative pathological examination revealed that mature giant teratoma was present with intestinal duplication.This was a rare intraoperative finding that was successfully treated surgically.CONCLUSION The clinical manifestations of intestinal duplication malformation are various,and difficult to diagnose before the operation.The possibility of intestinal replication should be considered when intraperitoneal cystic lesions are present.
文摘Ureteral duplication is congenital malformative uropathy that occurs most often in children. Complete ureteral duplication is defined by a kidney that has two ureters with two orifices that communicate to the bladder through two ureteral meati. It is an anatomical variant that remains rare. Its early discovery is due to a lack of diagnostic means, hence the occurrence of long-term complications. To this end, we observe an increased importance of the morbidity linked to the late diagnosis of this duplicity. We report a case of incomplete ureteral duplication complicated by ureterohydronephrosis on lithiasis wedged in the uretero-vesical junction of one of the ureters in its lower portion which required uretero-lithotomy with bladder reimplantation of the ureters. Our aim was to show the importance of the morbidity associated with late diagnosis of this anomaly and the incidence of infection and complications that this pathology poses as a problem. This was a clinical case of fortuitous discovery managed by a general surgeon in the general surgery department of the hospital “Mère Enfant” Le Luxembourg Bamako Mali. The suites were simple.
文摘This report describes a considerably rare case of high-grade urothelial carcinoma of the renal pelvis and ureter,presenting with heterologous differentiation,in a patient with bilateral duplicated kidneys.A 73-year-old male experienced intermittent gross hematuria for 5 months,accompanied by lower back and abdominal pain.Ultrasound and computed tomography scans revealed bilateral renal and ureteral duplication with multiple tumors in the left renal pelvis.A total nephroterectomy and bladder cuff resection were performed on the left two nephrons.Multiple space-occupying lesions were identified in the left renal pelvis and ureter.Histopathological examination showed poorly differentiated and diverse tumor cells,manifesting as sarcomatoid carcinoma,papillary adenocarcinoma,and infiltrating high-grade urothelial carcinoma.The tumor infiltrated the subcutaneous fibrous connective tissue of the renal pelvis and the full thickness of the ureter.Given the rarity of recurrent renal urothelial carcinoma with heterogeneous differentiation,comprehensive imaging and pathological assessments are vital to delineate the nature of the lesion and the direction of tissue pathological heterologous differentiation.These evaluations guide early radical surgical interventions,improving survival rates.
基金supported by the National Natural Science Foundation of China (82021001 and 31825018 to Q.S., 32370658 to Y.M.,82001372 to X.Y.)National Key Research and Development Program of China (2022YFF0710901)+2 种基金National Science and Technology Innovation2030 Major Program (2021ZD0200900) to Q.S.Shanghai Pujiang Program (22PJ1407300)Shanghai Jiao Tong University 2030 Initiative (WH510363001-7) to Y.M。
文摘Understanding gene expression variations between species is pivotal for deciphering the evolutionary diversity in phenotypes. Rhesus macaques(Macaca mulatta, MMU)and crab-eating macaques(M. fascicularis, MFA) serve as crucial nonhuman primate biomedical models with different phenotypes. To date, however, large-scale comparative transcriptome research between these two species has not yet been fully explored. Here, we conducted systematic comparisons utilizing newly sequenced RNA-seq data from84 samples(41 MFA samples and 43 MMU samples)encompassing 14 common tissues. Our findings revealed a small fraction of genes(3.7%) with differential expression between the two species, as well as 36.5% of genes with tissue-specific expression in both macaques. Comparison of gene expression between macaques and humans indicated that 22.6% of orthologous genes displayed differential expression in at least two tissues. Moreover,19.41% of genes that overlapped with macaque-specific structural variants showed differential expression between humans and macaques. Of these, the FAM220A gene exhibited elevated expression in humans compared to macaques due to lineage-specific duplication. In summary,this study presents a large-scale transcriptomic comparison between MMU and MFA and between macaques and humans. The discovery of gene expression variations not only enhances the biomedical utility of macaque models but also contributes to the wider field of primate genomics.
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.
文摘目的分析内听道重复畸形(duplication of the internal auditory canal,DIAC)患者CT及MRI影像学表现,提高对该畸形的认识,为人工耳蜗植入提供术前依据。方法回顾性观察20例(24耳)DIAC患者内耳多层螺旋CT(MSCT)及MRI资料,测量并分析病变组与对照组内听道及蜗神经孔宽度。结果DIAC均为内听道狭窄及合并其他颞骨畸形。MSCT示21耳、MRI水成像示16耳内听道由骨性分隔成双管。MRI水成像示前庭蜗神经纤细。病变、对照组内听道宽度及蜗神经孔宽度均有统计学差异(P<0.001)。6例(8耳)行人工耳蜗植入术后听力均有不同程度恢复。结论DIAC均显示内听道狭窄,MSCT所示骨性分隔为其特征性征象,MRI水成像示前庭蜗神经发育不良,联合两种影像检查方法可为本病诊断和人工听觉植入提供客观参考依据。
基金supported by the National Natural Science Foundation of China(U21A20232,32372756,and 32202551).
文摘In tea plants,the abundant flavonoid compounds are responsible for the health benefits for the human body and define the astringent flavor profile.While the downstream mechanisms of flavonoid biosynthesis have been extensively studied,the role of chalcone synthase(CHS)in this secondary metabolic process in tea plants remains less clear.In this study,we compared the evolutionary profile of the flavonoid metabolism pathway and discovered that gene duplication of CHS occurred in tea plants.We identified three CsCHS genes,along with a CsCHS-like gene,as potential candidates for further functional investigation.Unlike the CsCHS-like gene,the CsCHS genes effectively restored flavonoid production in Arabidopsis chs-mutants.Additionally,CsCHS transgenic tobacco plants exhibited higher flavonoid compound accumulation compared to their wild-type counterparts.Most notably,our examination of promoter and gene expression levels for the selected CHS genes revealed distinct responses to UV-B stress in tea plants.Our findings suggest that environmental factors such as UV-B exposure could have been the key drivers behind the gene duplication events in CHS.