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At least 1,171 records · Page 65Linked to original sources
PubMed1999

Biliary tract duplication accompanied by choledocholithiasis: report of a case.

Duplication of the biliary tract is extremely rare. In fact, to the best of our knowledge, only four previous reports of pediatric patients with this disease have been documented in the Japanese literature. This anomaly was diagnosed by perioperative endoscopic retrograde cholangiopancreatography (ERCP) in three of these patients, and incidentally during surgery for congenital biliary dilatation in the other one. We report herein a case of biliary tract duplication which was diagnosed by T-tube cholangiography, only in the oblique view, after cholecystectomy and choledochotomy with T-tube drainage. The patient was a 13-year-old girl who was initially diagnosed as having choledocholithiasis based on the results of preoperative and intraoperative cholangiography; however, a postoperative T-tube cholangiography revealed residual stones. At this point, duplication of the biliary tract was diagnosed only in the first oblique view. Reoperation was carried out 26 days after the first operation. The biliary tract was dissected completely from the pancreaticobiliary junction to the left and right hepatic ducts in the porta hepatis and found to be duplicated from the level of porta hepatis to the suprapancreatic area. We report our experience of this case, followed by a discussion on the relevant literature.

Adolescent↗
PubMed2002

Mediastinal enteric duplication cyst containing aberrant pancreas.

OBJECTIVE: The purpose of the study is to report a unique association of clinical and pathological findings in a neonate. Foregut enteric duplication cysts--rare developmental anomalies that are associated with midline vertebral fusion anomalies. METHODS: We had a neonate with foregut duplication cyst who presented at birth with respiratory distress. The child also had associated communicating hydrocephalus. The patient underwent excision of the duplication cyst along with a ventriculo-peritoneal shunt. RESULT: The excised specimen revealed a duplication cyst lined by aberrant pancreatic tissue. CONCLUSION: The present case demonstrates histologically the presence of both pancreatic and gastric tissue.

Choristoma↗
PubMed2006

Embryologic preputial sinus remnant mimicking urethral duplication.

Urethral duplications are rare congenital anomalies. Approximately 200 cases of urethral duplications have been reported in literature. We present a seven-year-old-boy with an embryologic preputial sinus remnant which was mimicking urethral duplication. The clinical presentations and embryology of the urethral duplication and preputial sinus are discussed.

Child↗
PubMedDate not supplied

Cecal duplications: a rare cause for secondary intussusception.

Duplications of the alimentary tract are rare congenital anomalies that may occur at any level from mouth to anus. While the oesophagus and the ileum are the most common sites, duplications of the colon are rare. Two cases of ileocolic intussusceptions in 8-month-old girl and 6-month-old boy who were admitted to our hospital with acute abdomen findings are presented. Intraoperatively, cecal cystic duplications leading intussusception were revealed. Intussusception is one of the most important surgical emergence in infancy and typically, it does not involve a lead point in childhood. Although duplication cyst may act as lead point, the review of literature reveals its rarity.

Abdomen, Acute↗
PubMed2002

Analysis of the duplicated CHS1 gene related to the suppression of the seed coat pigmentation in yellow soybeans.

Seed coat color in soybean is controlled by the classically defined I ( Inhibitor) locus. The seeds of most commercial soybean varieties are yellow due to the presence of a dominant allele of the I locus ( I: yellow seed coat, or i(i) : pigmented hilum and yellow seed coat), which inhibits seed coat pigmentation. Analysis of spontaneous mutations from I (yellow seed coat) to i (pigmented seed coat) has shown that these mutations are correlated with the deletion of a duplicated chalcone synthase gene-1 ( CHS1) region. In the current study, we isolated the duplicated CHS1 region from a soybean cultivar with a I/I genotype (cv Miyagi shirome) and determined its structure. The results showed that the duplicated CHS1 contained intact regulatory and coding regions. We designated the duplicated CHS1 as ICHS1. In the hypocotyls of Miyagi shirome, the cDNA derived from ICHS1 mRNA was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) analysis, whereas in the immature seed coats it was suggested that the amount of transcripts from ICHS1 and/or another type of CHS1 ( CHS1.1) was very low. Interestingly, in the Miyagi shirome genome with a I/I genotype, ICHS1 was closely linked to the truncated CHS3, and sequence comparison showed that this cluster probably arose from the CHS1-CHS3 cluster by a 1.8-kb deletion event.

Journal Article↗
PubMed1996

Duplications and deletions of the human IGHC locus: evolutionary implications.

A limited number of deletions and duplications within the human immunoglobulin heavy chain constant locus (IGHC) has previously been reported. We studied the IGHC locus in about 500 individuals representing three major races of human, Negroid (Gambian), Mongoloid (Japanese and Chinese), and Caucasoid (Iranian and Swedish). The haplotype frequency of duplications is highest in the Mongoloid population (22%), followed by the Caucasian (10%) and Negroid (5%) populations. The corresponding frequency of deletions are 2, 1.5, and 3.5%, respectively. New types of multiple duplications were found in this study on different genetic (H haplotype and racial) backgrounds. The most common duplication, found in all populations studied, encompasses the IGHA1-IGHE genes. The only deletion common to all racial groups is an isolated deletion of the IGHG4 gene. Our data are consistent with the hypothesis that the Caucasoid-Mongoloid group diverged from the hominoid ancestor after development of the Negroid populations, with subsequent evolution within the respective groups thereafter.

Electrophoresis, Gel, Pulsed-Field↗
PubMed2003

Duplication of the clavicle with triplication of the coracoid process.

A very rare case of duplication of the clavicle and triplication of the coracoid process of the scapula is presented. Duplication of the clavicle has been described in only six reports based on a search of the world literature. There is no mention of duplication or triplication of the coracoid process of the scapula in the world literature and this would appear to be the first report of this kind. A combination of bifurcation and triplication of the clavicle and coracoid process, respectively, in the present case illustrates that even anomalous bones search for their counterpart to form a joint. The process of duplication or triplication is explained with a new hypothesis.

Adult↗
PubMed2006

Bilateral retrocaval ureters with IVC duplication.

We report a rare case of bilateral retrocaval ureters associated with duplicated inferior renal cava. A 69-year-old woman was sent to our emergency room for abdominal pain. Multidetector computed tomogram with multiplanar reconstruction revealed duplicated inferior renal cavae and the bilateral ureters were positioned behind the duplicated inferior vena cava. To our knowledge, coexistence of bilateral retrocaval ureters and duplicated inferior renal cavae has not been reported in the literature.

Aged↗
PubMed1998

Reciprocal translocation at duplicated RPL2 loci might cause speciation of Saccharomyces bayanus and Saccharomyces cerevisiae.

By a genomic comparison of two sibling yeasts, Saccharomyces bayanus and S. cerevisiae, we previously demonstrated that chromosomes II and IV of S. cerevisiae were rearranged into chromosomes 12 and 14 of S. bayanus or vice versa. In the present study we have delimited the translocation break sites in chromosomes II and IV by Southern hybridization using DNA fragments of S. cerevisiae cosmid clones as probes. The results suggest that the reciprocal translocation of chromosomes II and IV had occurred at duplicated RPL2 loci. Furthermore, the translocation sites in S. bayanus were confirmed by the cloning and sequence analysis of the regions flanking RPL2 loci. Several genes in the regions flanking the RPL2 loci were present in the order expected for a translocation at these loci between the two species. These results indicated that the reciprocal translocation between chromosomes II and IV was generated by homologous recombination at duplicated RPL2 loci on the two chromosomes. Therefore, we propose that duplicated genes or duplicated regions play an important role in altering genomic organization during the speciation of S. bayanus and S. cerevisiae.

Base Sequence↗
PubMed2002

Foregut duplications.

Twenty-one children were treated for foregut duplications at the Royal Hospital for Sick Children over a 42-year period. There were 11 males and 10 females. The mean age at diagnosis was 1 year 6 months; antenatal diagnosis was made in 1 case. Respiratory and gastrointestinal (GI) presentation predominated. The diagnosis was made by chest radiograph (10), barium swallow (5), at operation (4), and by ultrasound (2). All patients were treated surgically; the mortality was 10%. The histology of the epithelial lining of the duplications revealed gastric mucosa in 15 cases; in 5 the duplication cyst was lined by more than one cell type. Nine patients had other associated congenital anomalies, the majority of these were vertebral abnormalities. The size of this series emphasises that clinicians should be aware that duplication cysts occur and should be considered in a child with unusual respiratory or GI symptoms.

Child↗
PubMed2003

Experimental study of the embryogenesis of gastrointestinal duplication and enteric cyst.

The theory of gastrointestinal duplication and enteric cyst embryogenesis was verified by examining the developmental process of this experimentally induced anomaly. In Cynopus pyrrhogaster (amphibian) embryos (stage 18), the dorsal midline structures (including the neural plate and notochord) were split regionally to induce partial separation of the notochord and gut anlage endoderm herniation between the split elements of the notochord. Following this procedure, the embryonic development was traced morphologically and histologically. Control embryos were cultured without the procedure. Following the incubation and breeding period, gastrointestinal duplication and enteric cysts were observed with vertebral anomaly, spina bifida, split cord malformation and subcutaneous manifestations in the mature animals. The combination of anomalies that was observed in these experimental animals is consistent with that found in "split notochord syndrome." No abnormal morphology or histology was observed in the control group. The embryogenetic theory of gastrointestinal duplication and enteric cysts was thus verified by simulating the partial separation of the notochord, which induced split notochord syndrome in laboratory animals. The results indicate that gastrointestinal duplication and enteric cysts may arise through a process of herniation of the gut anlage endoderm between split elements of the notochord.

Amphibians↗
PubMed2004

Pyloric duplication in a neonate: a rare entity.

Duplications of the alimentary tract are rare anomalies that have been reported to occur all along the gastrointestinal tract. Of the various alimentary tract duplications, pyloric duplications are extremely rare. We report the case of a 3-day-old neonate who was antenatally diagnosed as having a cystic mass in the abdomen and who presented with vomiting on the 2nd day of life. At operation, a duplication cyst of the pylorus was removed successfully and a pyloroantrectomy performed.

Diagnosis, Differential↗
PubMed1999

Duplication of the urethra.

Accessory urethra or duplication of the urethra is a rare anomaly. The vast majority occur in the sagittal plane; however, collateral or side-by-side duplications in the absence of bladder duplication also exist. We report six cases of urethral duplications. The mode of presentation and the importance of complete examination are discussed.

Child↗
PubMed1997

Congenital caecal cystic duplication presenting with caecal volvulus in an elderly woman.

Congenital caecal cystic duplication of the gastrointestinal tract usually present during infancy or young childhood. We have identified a patient who presented at 91 years of life with a caecal volvulus caused by a large communicating caecal cystic duplication. Review of the literature shows that caecal cystic duplications become symptomatic early when they cause complications, but until this report, volvulus was not a recognised presentation of caecal cystic duplication.

Aged↗
PubMed2002

Complete bilateral crossed ureteral duplication observed during a radical hysterectomy with pelvic lymphadenectomy for ovarian cancer. A case report.

Complete bilateral ureteral duplication is a rare malformation. We report the case of a patient diagnosed with ovarian cancer, in which complete crossed bilateral ureteral duplication was observed during a planned radical hysterectomy with pelvic lymphadenectomy operation. If unilateral duplication is observed on one side, the existence of a similar malformation on the opposite side should always be suspected. Although bilateral ureteral duplication is an even rarer malformation than unilateral, it should be always considered as a differential diagnosis.

Acetabulum↗
PubMed1998

Fin duplications and deletions induced by disruption of retinoic acid signaling.

Retinoic acid (RA), a derivative of vitamin A, plays a critical role as a signaling molecule in axial patterning of vertebrates. Here we report that RA exposure of zebrafish (Danio rerio) and mummichog (Fundulus heteroclitus) embryos during gastrulation results in homeotic duplications of the pectoral fins in up to 94% of fish. We have observed three to four pairs of fins in an individual fish. Although some duplications are partial, many represent complete axial duplications of the pectoral girdle and fin and include coracoscapulae, proximal radials, and dermal fin elements. Fin duplications are observed only at a defined dose of RA. Inhibition of RA synthesis by exposure to citral during a narrow developmental window leads to fish which lack pectoral fins but can be rescued by addition of exogenous RA, suggesting that RA signaling is critical to fin specification during early development. The ability to consistently induce multiple fins in a large number of vertebrate embryos should contribute to the understanding of genetic regulation of the normal positioning of limbs during embryogenesis.

Animals↗
PubMed1999

Ring chromosome 9 with a 9p22.3-p24.3 duplication.

UNLABELLED: A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral clinodactyly. The typical facial dysmorphic features of 9p duplication, ascribed to trisomy of the band p22, were not present in this patient. Cytogenetic and molecular studies indicated that the duplicated region of band p22 in the ring is confined to the sub-band 22.3. CONCLUSION: The chromosome region responsible for the 9p duplication syndrome appears to be restricted to sub-bands p22. 1-22.2.

Chromosomes, Human, Pair 9↗
PubMed2002

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.

Paternal duplications of distal 11p result in Beckwith Wiedemann syndrome (BWS), whereas maternal duplications have not, to our knowledge, been reported previously in the literature. We present three unrelated patients with maternal duplications of distal 11p. Patient 1 is a 31-year-old female with a de novo inverted duplication of distal 11p, i.e. inv dup del(11)(qter-->p15.5::p15.5-->15.3); this rearrangement was shown to be maternal in origin by microsatellite analysis and methylation-specific polymerase chain reaction. Patient 2 is a 4-year-old female with a derived chromosome 20, which arose from adjacent 1 malsegregation of a maternal t(11;20)(p15.3;q13.33). Patient 3 presented as an intrauterine death with trisomy for the majority of chromosome 11p as a result of 3:1 segregation of a maternal t(11;15)(p11.2;q11.2). In view of the imprinted status of this region, it is pertinent that none of our patients showed features of BWS; indeed, all had growth retardation, in contrast to the overgrowth characteristic of BWS. It is of note that, of the living patients, Patient 1 went into early puberty at 9.5 years and Patient 2 showed breast development in infancy. Both patients shared some dysmorphological features, namely short palpebral fissures, a prominent nasal tip, a short philtrum and 5th finger clinodactyly.

Abnormalities, Multiple↗