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
AIM:To explore the causal relationship between several possible behavioral factors and high myopia(HM)using multivariable Mendelian randomization(MVMR)approach and to find the mediators among them with mediation analy...AIM:To explore the causal relationship between several possible behavioral factors and high myopia(HM)using multivariable Mendelian randomization(MVMR)approach and to find the mediators among them with mediation analysis.METHODS:The causal effects of several behavioral factors,including screen time,education time,time spent outdoors,and physical activity,on the risk of HM using univariable Mendelian randomization(MR)and MVMR analyses were first assessed.Genome-wide association study summary statistics of serum metabolites were also used in mediation analysis to determine the extent to which serum metabolites mediate the effects of behavioral factors on HM.RESULTS:MR analyses indicated that both increased time spent outdoors and a higher frequency of moderate physical activity significantly reduced the risk of HM.Further MVMR analysis confirmed that moderate physical activity independently contributed to a lower risk of HM.Additionally,MR analyses identified 13 serum metabolites significantly associated with HM,of which 12 were lipids and one was an amino acid derivative.Mediation analysis revealed that six lipid metabolites mediated the protective effects of moderate physical activity on HM,with the highest mediation proportion observed for 1-(1-enyl-palmitoyl)-GPC(p-16:0;30.83%).CONCLUSION:This study suggests that in addition to outdoor time,moderate physical activity habits may have an independent protective effect against HM and pointed to lipid metabolites as priority targets for the prevention due to low physical activity.These results emphasize the importance of physical activity and metabolic health in HM and underscore the need for further study of these complex associations.展开更多
AIM:To comprehensively assess the relationship between asthma and myopia based on the National Health and Nutrition Examination Survey(NHANES)database combined with Mendelian randomization(MR).METHODS:Initially,20497 ...AIM:To comprehensively assess the relationship between asthma and myopia based on the National Health and Nutrition Examination Survey(NHANES)database combined with Mendelian randomization(MR).METHODS:Initially,20497 subjects from the complete questionnaire cycle in the NHANES database from 2005 to 2008 were included.By exclusion criteria,8460 subjects were screened with 1676 myopia samples and 6784 control samples.Subsequently,baseline characteristics,association analyses,risk stratification analyses,and receive operating characteristic curve(ROC)were used to investigate the associations between covariates and myopia.Then,the causal relationship was explored in depth by MR analysis,and was estimated the reliability by sensitivity analyses and directionality tests.RESULTS:Baseline characteristics illustrated a significant difference between myopia and controls for both asthma and covariates(excluding gender;P<0.05).The results in all three models indicated that asthma was strongly associated with myopia and the effect on myopia was not significantly confounded by other covariates[model 3:odd ratio(OR)=1.31;95%CI=1.07-1.62;P=0.0133].The risk stratification analysis again verified that asthma remained strongly associated with myopia and was a risk factor for myopia(P<0.05,OR>1).ROC proved that the model was accurate in its prediction[area under curve(AUC)=0.7].Subsequently,the causal relationship between them was statistically significant(P<0.05)according to the inverse variance weighted(IVW)method in MR.Scatterplot showed that asthma and myopia had significant positive causality and were not affected by confounders.Forest plot displayed an increasing risk of myopia on asthma(OR>1).The funnel plot demonstrated compliance with Mendel’s second law.Sensitivity analysis and directional analysis further confirmed the confidence of the MR analysis results and a unidirectional causal relationship between them.CONCLUSION:A significant association and causality between asthma and myopia is found through the NHANES database and MR analysis,which is important implications for public health policy development and clinical practice.展开更多
In this paper,we establish some strong laws of large numbers,which are for nonindependent random variables under the framework of sublinear expectations.One of our main results is for blockwise m-dependent random vari...In this paper,we establish some strong laws of large numbers,which are for nonindependent random variables under the framework of sublinear expectations.One of our main results is for blockwise m-dependent random variables,and another is for sub-orthogonal random variables.Both extend the strong law of large numbers for independent random variables under sublinear expectations to the non-independent case.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
Since the first MADS-box transcription factor genes were implicated in the establishment of floral organ identity in a couple of model plants, the size and scope of this gene family has begun to be appreciated in a mu...Since the first MADS-box transcription factor genes were implicated in the establishment of floral organ identity in a couple of model plants, the size and scope of this gene family has begun to be appreciated in a much wider range of species. Over the course of millions of years the number of MADS-box genes in plants has increased to the point that the Arabidopsis genome contains more than 100. The understanding gained from studying the evolution, regulation and function of multiple MADS-box genes in an increasing set of species, makes this large plant transcription factor gene family an ideal subject to study the processes that lead to an increase in gene number and the selective birth, death and repurposing of its component members. Here we will use examples taken from the MADS-box gene family to review what is known about the factors that influence the loss and retention of genes duplicated in different ways and examine the varied fates of the retained genes and their associated biological outcomes.展开更多
Gastric duplication cyst is a very rare gastrointestinal tract malformation that accounts for 2%-4%of alimentary tract duplications.Most cases are diagnosed within the first year of life,following presentation of abdo...Gastric duplication cyst is a very rare gastrointestinal tract malformation that accounts for 2%-4%of alimentary tract duplications.Most cases are diagnosed within the first year of life,following presentation of abdominal pain,vomiting,and weight loss and clinical discovery of an abdominal palpable mass.This case report describes a very uncommon symptomatic gastric duplication cyst diagnosed for the first time in adulthood.Only a few other case reports of similar condition exist,and all were identified by endosonography.The current case involves a 52-year-old male who presented with a onemonth history of progressive iron deficiency anemia without overt gastrointestinal bleeding.The patient underwent esophagogastroduodenoscopy,which revealed a 2.0 cm pinkish subepithelial lesion,suspected to be a gastrointestinal stromal tumor(GIST)and source of gastrointestinal bleeding.The endosonography showed inhomogeneous hypoechoic lesions with focal anechoic areas arising from a second and third layer of the gastric wall.Differential diagnoses of GIST,neuroendocrine tumor,or pancreatic heterotopia were made.The lesion was removed using an endoscopic submucosal resection technique.Histopathology revealed an erosive gastric mass composed of a complex structure of dilated gastric glands surrounded by fibro-muscular tissue,fibroblasts,and smooth muscle bundles,which led to the diagnosis of gastric duplication.展开更多
Lipoma within jejunal duplication presenting as abdominal bloating and partial intestinal obstruction is an exceptional clinical entity.We report a case of 68-year-old man complaining of abdominal bloating for 10 d du...Lipoma within jejunal duplication presenting as abdominal bloating and partial intestinal obstruction is an exceptional clinical entity.We report a case of 68-year-old man complaining of abdominal bloating for 10 d due to multiple lipomas arising from jejunal duplication cysts.Only a few cases of a single lipoma within a Meckel’s diverticulum giving rise to this clinical scenario have been reported in the English language literature.However,no case of multiple lipomas within jejunal duplication cysts has been reported.We present a case in which doubleballoon endoscopy revealed a small intestinal structure changed into Meckel’s diverticulum-like cavities containing several lipomas.This case highlights intestinal lipoma as an uncommon cause of adult intussusceptions,which should be included in the differential diagnosis of small intestinal obstruction and appropriate examinations should be chosen.展开更多
Duplications of the alimentary tract (ATD) are rare congenital anomalies often found early in life. They may occur anywhere in the intestinal tract but the ileum is the most frequently affected site. Clinical presenta...Duplications of the alimentary tract (ATD) are rare congenital anomalies often found early in life. They may occur anywhere in the intestinal tract but the ileum is the most frequently affected site. Clinical presentation of ATD in adults is variable and because these lesions occur so infrequently they are rarely suspected. In the present report we describe a case of ileal duplication in a 61-year-old patient with Crohn’s disease. Despite various radiological investigations and medical consultations, the diagnosis was only made on the surgical specimen.展开更多
Tubular duplication of the colon is very rare especially in adulthood,because it is frequently symptomatic earlier in newborn life,so only few cases are reported in literature.Several theories are proposed to explain ...Tubular duplication of the colon is very rare especially in adulthood,because it is frequently symptomatic earlier in newborn life,so only few cases are reported in literature.Several theories are proposed to explain the onset and the evolution of gut malformations as the aberrant lumen recanalization or the diverticular theory,the alteration of the lateral closure of the embryonal disk or finally the dorsal protrusion of the yolksac for herniation or adhesion to the ectoderm for an abnormality of the longitudinal line,but none clarifies the exact genesis of duplication.We present a case of "Y-shaped" tubular duplication of the transverse colon in a 21-year-old adult,with a history of chronic pain and constipation,referred to our department for abdominal pain with retrosternal irradiation,treated with the resection of the aberrant bowel.展开更多
Duodenal duplication cysts are benign rare congenital anomalies reported mainly in the pediatric population,but seldom in adults.Symptoms depend on the type and location and can present as abdominal pain,distension,dy...Duodenal duplication cysts are benign rare congenital anomalies reported mainly in the pediatric population,but seldom in adults.Symptoms depend on the type and location and can present as abdominal pain,distension,dysphagia or dyspepsia.They have been reported to be responsible for duodenal obstruction,pancreatitis and,in rare cases,gastrointestinal bleeding.We present a case of a duodenal duplication cyst in a 43-year-old man presenting as melena.Initial gastroduodenoscopy and colonoscopy did not reveal any bleeding focus.However,the patient began passing melena after 3 d,with an acute decrease in hemoglobin levels.Subsequent studies revealed a duplication cyst in the second portion of the duodenum which was surgically resected.Histology revealed a duodenal duplication cyst consisting of intestinal mucosa.There was no further bleeding and the patient recovered completely.In rare cases,duodenal duplication cysts might cause gastrointestinal bleeding and should be included in the differential diagnosis.展开更多
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
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
Gastrointestinal duplications are uncommon congenital malformations that can occur anywhere along the gastrointestinal tract. Most cases are recognized before the age of 2 years, and those encountered in adults are ra...Gastrointestinal duplications are uncommon congenital malformations that can occur anywhere along the gastrointestinal tract. Most cases are recognized before the age of 2 years, and those encountered in adults are rare. We describe here a case of ascending colon duplication in a 20-year-old male that caused intussusception and was treated laparoscopically. Although computed tomography revealed a cystic mass filled with stool-like material, the preoperative diagnosis was a submucosal tumor of the ascending colon. We performed a laparoscopic right colectomy, and the postoperative pathological diagnosis was duplication of the ascending colon, both cystic and tubular components. We conclude that gastrointestinal duplications, although rare, should be considered in the differential diagnosis of all abdominal and submucosal cystic lesions and that laparoscopy is a preferred approach for the surgical treatment of gastrointestinal duplications.展开更多
Intestinal duplication is an uncommon congenital condition in young adults.A 25-year-old man complained of chronic,intermittent abdominal pain for 3 years following previous appendectomy for the treatment of suspected...Intestinal duplication is an uncommon congenital condition in young adults.A 25-year-old man complained of chronic,intermittent abdominal pain for 3 years following previous appendectomy for the treatment of suspected appendicitis.Abdominal discomfort and pain,suggestive of intestinal obstruction,recurred after operation.A tubular mass was palpable in the right lower quadrant.Computed tomography enterography scan identified suspicious intestinal intussusception,while Tc-99m pertechnetate scintigraphy revealed a cluster of strip-like abnormal radioactivity in the right lower quadrant.On exploratory laparotomy,a tubular-shaped ileal duplication cyst was found arising from the mesenteric margin of the native ileal segment located 15 cm proximal to the ileocecal valve.Ileectomy was performed along with the removal of the duplication disease,and the end-to-end anastomosis was done to restore the gastrointestinal tract continuity.Pathological examination showed ileal duplication with ectopic gastric mucosa.The patient experienced an eventless postoperative recovery and remained asymptomatic within 2 years of postoperative follow-up.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
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.
基金Supported by the Central High Level Hospital Clinical Research Funding(No.BJ-2024-089).
文摘AIM:To explore the causal relationship between several possible behavioral factors and high myopia(HM)using multivariable Mendelian randomization(MVMR)approach and to find the mediators among them with mediation analysis.METHODS:The causal effects of several behavioral factors,including screen time,education time,time spent outdoors,and physical activity,on the risk of HM using univariable Mendelian randomization(MR)and MVMR analyses were first assessed.Genome-wide association study summary statistics of serum metabolites were also used in mediation analysis to determine the extent to which serum metabolites mediate the effects of behavioral factors on HM.RESULTS:MR analyses indicated that both increased time spent outdoors and a higher frequency of moderate physical activity significantly reduced the risk of HM.Further MVMR analysis confirmed that moderate physical activity independently contributed to a lower risk of HM.Additionally,MR analyses identified 13 serum metabolites significantly associated with HM,of which 12 were lipids and one was an amino acid derivative.Mediation analysis revealed that six lipid metabolites mediated the protective effects of moderate physical activity on HM,with the highest mediation proportion observed for 1-(1-enyl-palmitoyl)-GPC(p-16:0;30.83%).CONCLUSION:This study suggests that in addition to outdoor time,moderate physical activity habits may have an independent protective effect against HM and pointed to lipid metabolites as priority targets for the prevention due to low physical activity.These results emphasize the importance of physical activity and metabolic health in HM and underscore the need for further study of these complex associations.
基金Supported by the Hainan Provincial Natural Science Foundation of China(No.825RC898)Hainan Province Clinical Medical Center。
文摘AIM:To comprehensively assess the relationship between asthma and myopia based on the National Health and Nutrition Examination Survey(NHANES)database combined with Mendelian randomization(MR).METHODS:Initially,20497 subjects from the complete questionnaire cycle in the NHANES database from 2005 to 2008 were included.By exclusion criteria,8460 subjects were screened with 1676 myopia samples and 6784 control samples.Subsequently,baseline characteristics,association analyses,risk stratification analyses,and receive operating characteristic curve(ROC)were used to investigate the associations between covariates and myopia.Then,the causal relationship was explored in depth by MR analysis,and was estimated the reliability by sensitivity analyses and directionality tests.RESULTS:Baseline characteristics illustrated a significant difference between myopia and controls for both asthma and covariates(excluding gender;P<0.05).The results in all three models indicated that asthma was strongly associated with myopia and the effect on myopia was not significantly confounded by other covariates[model 3:odd ratio(OR)=1.31;95%CI=1.07-1.62;P=0.0133].The risk stratification analysis again verified that asthma remained strongly associated with myopia and was a risk factor for myopia(P<0.05,OR>1).ROC proved that the model was accurate in its prediction[area under curve(AUC)=0.7].Subsequently,the causal relationship between them was statistically significant(P<0.05)according to the inverse variance weighted(IVW)method in MR.Scatterplot showed that asthma and myopia had significant positive causality and were not affected by confounders.Forest plot displayed an increasing risk of myopia on asthma(OR>1).The funnel plot demonstrated compliance with Mendel’s second law.Sensitivity analysis and directional analysis further confirmed the confidence of the MR analysis results and a unidirectional causal relationship between them.CONCLUSION:A significant association and causality between asthma and myopia is found through the NHANES database and MR analysis,which is important implications for public health policy development and clinical practice.
文摘In this paper,we establish some strong laws of large numbers,which are for nonindependent random variables under the framework of sublinear expectations.One of our main results is for blockwise m-dependent random variables,and another is for sub-orthogonal random variables.Both extend the strong law of large numbers for independent random variables under sublinear expectations to the non-independent case.
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funded by the Biotechnology and Biological Sciences Research Council(BBSRC) ERA-NET BB/G024995/1
文摘Since the first MADS-box transcription factor genes were implicated in the establishment of floral organ identity in a couple of model plants, the size and scope of this gene family has begun to be appreciated in a much wider range of species. Over the course of millions of years the number of MADS-box genes in plants has increased to the point that the Arabidopsis genome contains more than 100. The understanding gained from studying the evolution, regulation and function of multiple MADS-box genes in an increasing set of species, makes this large plant transcription factor gene family an ideal subject to study the processes that lead to an increase in gene number and the selective birth, death and repurposing of its component members. Here we will use examples taken from the MADS-box gene family to review what is known about the factors that influence the loss and retention of genes duplicated in different ways and examine the varied fates of the retained genes and their associated biological outcomes.
文摘Gastric duplication cyst is a very rare gastrointestinal tract malformation that accounts for 2%-4%of alimentary tract duplications.Most cases are diagnosed within the first year of life,following presentation of abdominal pain,vomiting,and weight loss and clinical discovery of an abdominal palpable mass.This case report describes a very uncommon symptomatic gastric duplication cyst diagnosed for the first time in adulthood.Only a few other case reports of similar condition exist,and all were identified by endosonography.The current case involves a 52-year-old male who presented with a onemonth history of progressive iron deficiency anemia without overt gastrointestinal bleeding.The patient underwent esophagogastroduodenoscopy,which revealed a 2.0 cm pinkish subepithelial lesion,suspected to be a gastrointestinal stromal tumor(GIST)and source of gastrointestinal bleeding.The endosonography showed inhomogeneous hypoechoic lesions with focal anechoic areas arising from a second and third layer of the gastric wall.Differential diagnoses of GIST,neuroendocrine tumor,or pancreatic heterotopia were made.The lesion was removed using an endoscopic submucosal resection technique.Histopathology revealed an erosive gastric mass composed of a complex structure of dilated gastric glands surrounded by fibro-muscular tissue,fibroblasts,and smooth muscle bundles,which led to the diagnosis of gastric duplication.
文摘Lipoma within jejunal duplication presenting as abdominal bloating and partial intestinal obstruction is an exceptional clinical entity.We report a case of 68-year-old man complaining of abdominal bloating for 10 d due to multiple lipomas arising from jejunal duplication cysts.Only a few cases of a single lipoma within a Meckel’s diverticulum giving rise to this clinical scenario have been reported in the English language literature.However,no case of multiple lipomas within jejunal duplication cysts has been reported.We present a case in which doubleballoon endoscopy revealed a small intestinal structure changed into Meckel’s diverticulum-like cavities containing several lipomas.This case highlights intestinal lipoma as an uncommon cause of adult intussusceptions,which should be included in the differential diagnosis of small intestinal obstruction and appropriate examinations should be chosen.
文摘Duplications of the alimentary tract (ATD) are rare congenital anomalies often found early in life. They may occur anywhere in the intestinal tract but the ileum is the most frequently affected site. Clinical presentation of ATD in adults is variable and because these lesions occur so infrequently they are rarely suspected. In the present report we describe a case of ileal duplication in a 61-year-old patient with Crohn’s disease. Despite various radiological investigations and medical consultations, the diagnosis was only made on the surgical specimen.
文摘Tubular duplication of the colon is very rare especially in adulthood,because it is frequently symptomatic earlier in newborn life,so only few cases are reported in literature.Several theories are proposed to explain the onset and the evolution of gut malformations as the aberrant lumen recanalization or the diverticular theory,the alteration of the lateral closure of the embryonal disk or finally the dorsal protrusion of the yolksac for herniation or adhesion to the ectoderm for an abnormality of the longitudinal line,but none clarifies the exact genesis of duplication.We present a case of "Y-shaped" tubular duplication of the transverse colon in a 21-year-old adult,with a history of chronic pain and constipation,referred to our department for abdominal pain with retrosternal irradiation,treated with the resection of the aberrant bowel.
文摘Duodenal duplication cysts are benign rare congenital anomalies reported mainly in the pediatric population,but seldom in adults.Symptoms depend on the type and location and can present as abdominal pain,distension,dysphagia or dyspepsia.They have been reported to be responsible for duodenal obstruction,pancreatitis and,in rare cases,gastrointestinal bleeding.We present a case of a duodenal duplication cyst in a 43-year-old man presenting as melena.Initial gastroduodenoscopy and colonoscopy did not reveal any bleeding focus.However,the patient began passing melena after 3 d,with an acute decrease in hemoglobin levels.Subsequent studies revealed a duplication cyst in the second portion of the duodenum which was surgically resected.Histology revealed a duodenal duplication cyst consisting of intestinal mucosa.There was no further bleeding and the patient recovered completely.In rare cases,duodenal duplication cysts might cause gastrointestinal bleeding and should be included in the differential diagnosis.
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.
基金Fujieda Municipal General Hospital,Surugadai,Fujieda,Shizuoka,Japan
文摘Gastrointestinal duplications are uncommon congenital malformations that can occur anywhere along the gastrointestinal tract. Most cases are recognized before the age of 2 years, and those encountered in adults are rare. We describe here a case of ascending colon duplication in a 20-year-old male that caused intussusception and was treated laparoscopically. Although computed tomography revealed a cystic mass filled with stool-like material, the preoperative diagnosis was a submucosal tumor of the ascending colon. We performed a laparoscopic right colectomy, and the postoperative pathological diagnosis was duplication of the ascending colon, both cystic and tubular components. We conclude that gastrointestinal duplications, although rare, should be considered in the differential diagnosis of all abdominal and submucosal cystic lesions and that laparoscopy is a preferred approach for the surgical treatment of gastrointestinal duplications.
文摘Intestinal duplication is an uncommon congenital condition in young adults.A 25-year-old man complained of chronic,intermittent abdominal pain for 3 years following previous appendectomy for the treatment of suspected appendicitis.Abdominal discomfort and pain,suggestive of intestinal obstruction,recurred after operation.A tubular mass was palpable in the right lower quadrant.Computed tomography enterography scan identified suspicious intestinal intussusception,while Tc-99m pertechnetate scintigraphy revealed a cluster of strip-like abnormal radioactivity in the right lower quadrant.On exploratory laparotomy,a tubular-shaped ileal duplication cyst was found arising from the mesenteric margin of the native ileal segment located 15 cm proximal to the ileocecal valve.Ileectomy was performed along with the removal of the duplication disease,and the end-to-end anastomosis was done to restore the gastrointestinal tract continuity.Pathological examination showed ileal duplication with ectopic gastric mucosa.The patient experienced an eventless postoperative recovery and remained asymptomatic within 2 years of postoperative follow-up.
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.
