Multiple thoracic and abdominal foregut duplication cysts:A case report

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.

Segmental Duplications Are Common in Rice Genome

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.

Duplication of the Urethra in Boys: A Case Report

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.

Total colorectal and terminal ileal duplication presenting as intussusception and intestinal obstruction

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.

Alimentary tract duplications in newborns and children: Diagnostic aspects and the role of laparoscopic treatment

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.

The impact of tandem duplication on gene evolution in Solanaceae species

Whole genome duplication(WGD) and tandem duplication(TD) are important modes of gene amplification and functional innovation, and they are common in plant genome evolution. We analyzed the genomes of three Solanaceae species(Solanum lycopersicum, Capsicum annuum, and Petunia inflata), which share a common distant ancestor with Vitis vinifera, Theobroma cacao, and Coffea canephora but have undergone an extra whole genome triplication(WGT) event. The analysis was used to investigate the phenomenon of tandem gene evolution with(S. lycopersicum) or without WGT(V. vinifera). Among the tandem gene arrays in these genomes, we found that V. vinifera, which has not experienced the WGT event, retained relatively more and larger tandem duplicated gene(TDG) clusters than the Solanaceae species that experienced the WGT event. Larger TDG clusters tend to be derived from older TD events, so this indicates that continuous TDGs(absolute dosage) accumulated during long-term evolution. In addition, WGD and TD show a significant bias in the functional categories of the genes retained. WGD tends to retain dose-sensitive genes related to biological processes, including DNA-binding and transcription factor activity, while TD tends to retain genes involved in stress resistance. WGD and TD also provide more possibilities for gene functional innovation through gene fusion and fission. The TDG cluster containing the tomato fusarium wilt resistance gene I3 contains 15 genes, and one of these genes, Solyc07g055560, has undergone a fusion event after the duplication events. These data provide evidence that helps explain the new functionalization of TDGs in adapting to environmental changes.

Combined duplication of the colon and vermiform appendix in an adult patient

Combined duplication of the colon and vermiform appendix is one of the rare congenital anomalities of the alimentary tract. Only a few cases have been reported in the adult population. A 28-year-old man presented to the clinic with a mass in the right flank. Imaging showed only a hydronephrotic atrophic kidney. The f inal diagnosis was only available at exploration. Combined duplication of the tubular colon and vermiform appendix was conf irmed histopathologically. The patient was treated with nephrectomy and complete resection of the duplicated colon and vermiform appendix. The patient recovered uneventfully,and has done well for the past year. This is believed to be one of the first reports of combined duplication of the tubular colon and vermiform appendix as a cause of hydronephrotic atrophic kidney in an adult patient.

Endoscopic treatment of periampullary duodenal duplication cysts in children: Four case reports and review of the literature

BACKGROUND Duodenal duplications are rare congenital anomalies of the gastrointestinal tract.As the periampullary variant is much rarer,literature is scant and only few authors have reported their experience in diagnosis and treatment,particularly with operative endoscopy.CASE SUMARY To report our experience with the endoscopic treatment in a series of children with periampullary duodenal duplication cysts,focusing on the importance of obtaining an accurate preoperative anatomic assessment of the malformations.The pediatric periampullary duodenal duplication cyst literature is reviewed.We conducted a systematic review according to the PRISMA guidelines.The PubMed database was searched for original studies on“duodenal duplication”,“periampullary duplication”or“endoscopic management”published since 1990,involving patients younger than 18 years of age.Eligible study designs were case report,case series and reviews.We analyzed the data and reported the results in table and text.Fifteen eligible articles met the inclusion criteria with 16 patients,and analysis was extended to our additional 4 cases.Median age at diagnosis was 13.5 years.Endoscopic treatment was performed in 10(50%)patients,with only 2 registered complications.CONCLUSION Periampullary duodenal duplication cysts in pediatric patients are very rare.Our experience suggests that an accurate preoperative assessment is critical.In the presence of sludge or stones inside the duplication,endoscopic retrograde cholangio-pancreatography is mandatory to demonstrate a communication with the biliary tree.Endoscopic treatment resulted in a safe,minimally invasive and effective treatment.In periampullary duodenal duplication cyst endoscopically treated children,long-term follow-up is still necessary considering the potential malignant transformation at the duplication site.

Rare adult gastric duplication cyst mimicking a gastrointestinal stromal tumor

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.

Foregut duplication cysts of the stomach with respiratory epithelium

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).

Partial intestinal obstruction secondary to multiple lipomas within jejunal duplication cyst: A case report

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.

Duodenal duplication cyst causing severe pancreatitis:Imaging findings and pathological correlation

We here report a case of a 18-year-old man with a history of recurrent abdominal pain and a previous episode of severe acute pancreatitis. Abdominal ultrasonography, contrast enhanced multislice computer tomography, endoscopic retrograde cholangiopancreatography, endoscopic ultrasonography and magnetic resonance imaging demonstrated a cystic mass lesion. Only on delayed phase magnetic resonance images after GadoliniumBOPTA injection, it was possible to demonstrate the lesion's relationship with the biliary tree, differentiating the lesion from intraluminal duodenal diverticulum, and to achieve the diagnosis of duodenal duplication cyst, a recognized rare cause of acute pancreatitis. The diagnosis was confirmed by histology.

Intestinal duplication in adulthood: A rare entity, difficult to diagnose

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.

Foregut duplication cysts:A report of two cases with emphasis on embryogenesis

Duplication cyst of the stomach with a pseudostratifie columnar ciliated epithelium is extremely rare.We de scribe two cases of these cysts,with emphasis on the immunophenotype and embryogenesis.The first patien was a 29-year-old man who presented with crampin abdominal pain in his left lower quadrant.The secon patient was a 26-year-old woman who had a history over several years,of chronic epigastric abdominal pai radiating to her back.Both lesions were surgically re moved.They showed the same histomorphology.Th cysts were lined by a pseudostratified respiratory ep thelium with ciliated cells.The first cyst was connecte to the stomach,while the second cyst was not connect ed.Both cysts expressed thyroid transcription factor(TTF-1) and surfactant.In this report,we explore th possible embryogenesis of these lesions in the light o TTF-1 and surfactant expression.

Colonic duplication in an adult who presented with chronic constipation attributed to hypothyroidism

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.

Duplication cyst of the small intestine found by double-balloon endoscopy:A case report

A 35-year-old man was admitted due to bloody stool and anemia. The bleeding source could not be detected by esophagogastroduodenoscopy or colonoscopy. Double balloon endoscopy (DBE) revealed a diverticulum-like hole in which coagula stuck in the ileum at 1 meter on the oral side from the ileocecal valve. The adjacent mucosa just to the oral side of the hole was elevated like a submucosal tumor. The lesion was considered the source of bleeding and removed surgically. It was determined to be a cyst with an ileal structure on the mesenteric aspect accompanying gastric mucosa. The diagnosis was a duplication cyst of the ileum,which is a rare entity that can cause gastrointestinal bleeding. In the present case,DBE was used to fi nd the hemorrhagic duplication cyst in the ileum.

Colonic duplication in adults: Report of two cases presenting with rectal bleeding

Gastrointestinal duplication is an uncommon congenital abnormality in two-thirds of cases manifesting before the age of 2 years. Ileal duplication is common while colonic duplication, either cystic or tubular, is a rather unusual clinical entity that remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients,colonic duplication is encountered in adults only in a few cases. This study reports two cases of colonic duplication in adults. Both cases presented with rectal bleeding on admission. The study was focused on clinical, imaging,histological, and therapeutical aspects of the presenting cases. Gastrografin enema established the diagnosis in both cases. The cystic structure and the adjacent part of the colon were excised en-block. The study implies that colonic duplication, though uncommon, should be included in the differential diagnosis of rectal bleeding.

Duplication and expression analysis of multicopy miRNA gene family members in Arabidopsis and rice

To understand the expansion ofmulticopy microRNA （miRNA） families in plants, we localized the reported miRNA genes from Arabidopsis and rice to their chromosomes, respectively, and observed that 37% of 117 miRNA genes from Arabidopsis and 35% of 173 miRNA genes from rice were segmental duplications in the genome. In order to characterize whether the expression diversification has occurred among plant multicopy miRNA family members, we designed PCR primers targeting 48 predicted miRNA precursors from 10 families in Arabidopsis and rice. Results from RT-PCR data suggest that the transcribed precursors of members within the same miRNA family were present at different expression levels. In addition, although miRl60 and miR162 sequences were conserved in Arabidopsis and rice, we found that the expression patterns of these genes differed between the two species. These data suggested that expression diversification has occurred in multicopy miRNA families, increasing our understanding of the expression regulation of miRNAs in plants.

Colonic duplication in an adult mimicking a tumor of pancreas

Duplications of the alimentary tract are uncommon congenital malformations that can present diagnostic difficulties. We report a rare case of a cystic colonic duplication in a female adult. Preoperative investigations were suggestive of pancreatic tumor. The diagnosis was established based on the histopathological examination of the resected specimen. We concluded that, though uncommon, intestinal duplication should be considered in differential diagnosis of abdominal mass.

A case of a duodenal duplication cyst presenting as melena

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.