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PubMed2000

FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group.

Genomic DNA from 106 cases of adult de novo acute myeloid leukaemia (AML) was screened by polymerase chain reaction (PCR) and gel electrophoresis for FLT3 internal tandem duplication (ITD) mutations within the juxtamembrane (JM) domain. FLT3 mutations were detected in 14 cases (13.2%) and occurred in FAB types M1 (4 out of 14 cases), M3 (1 out of 10 cases), M4 (5 out of 37 cases) and M5 (4 out of 11 cases). Sequence analysis of four cases with abnormal PCR electrophoretic patterns revealed in frame duplications in the region of exon 11 of between 27 and 111 base pairs. Three are predicted to result in the tandem duplication of adjacent amino acid residues and one to result in a tandem duplication plus insertion of a novel amino acid motif. Statistical analysis showed the FLT3 mutations to be a strong prognostic factor, with patients lacking the mutation surviving significantly longer from diagnosis (mean 29.1 months) than those with an ITD (mean 12.8 months; P = 0.0002). Thirteen of the 14 patients with FLT3 mutations died within 18 months of diagnosis. FLT3 mutations were of prognostic significance in good risk disease (P = 0.04), as well as in patients with standard risk disease (P = 0.0096). This study demonstrates that the FLT3 ITD mutation occurs in a significant percentage of adult AML cases and is an important adverse prognostic factor that appears independent of conventional karyotypic findings.

Acute Disease↗
PubMed1996

The plasmid replicator AMA1 in Aspergillus nidulans is an inverted duplication of a low-copy-number dispersed genomic repeat.

The AMA1 sequence was isolated from a genomic library of Aspergillus nidulans on the basis of its ability to enhance transformation frequency and generate phenotypically unstable transformants in this fungus. These properties were previously shown to be the result of extrachromosomal replication of AMA1-bearing plasmids. Here we demonstrate that AMA1 is an inverted duplication of a sequence which has other isolated genomic copies. These sequences (mobile Aspergillus transformation enhancers, or MATEs) share a high degree of sequence similarity and exhibit some features characteristic of mobile elements, including a potential Met-tRNA priming site, similar to that found in retrotransposons of the Ty-copia group. The nucleotide sequence does not encode any extended polypeptides but contains ARS-consensus matches and a multiply repeated 'Spe' motif, which may be described as a symmetrically duplicated topoisomerase I recognition site. This motif was shown to be a target for illegitimate recombination events. The mobility of members of the MATE family is inferred from the observation that their chromosomal locations are highly variable between wild Aspergillus isolates. The inverted duplication AMA1 is present in laboratory strains derived from the Glasgow isolate but not in other wild isolates tested. This indicates that the inverted duplication AMA1 is of recent evolutionary origin and probably does not exert any conserved function in the chromosome. We discuss possible connections between structural features of AMA1 and its ability to promote extrachromosomal plasmid replication.

Amino Acid Sequence↗
PubMed2003

Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

Kabuki syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome that heretofore has had an unknown etiology. Although several cases with KS features have been reported with different chromosome anomalies, none have had an autosomal cytogenetic aberration in common. We found an 8p22-8p23.1 duplication, using comparative genomic hybridization (CGH) in six unrelated patients diagnosed with KS. This observation was confirmed using BAC-FISH in all cases that delimited the duplicated region to approximately 3.5 Mb. No duplication of this region was found in two parents or 20 controls by either CGH or BAC-FISH. Two out of two mothers of KS patients and one out of 20 controls were found to have a heterozygous submicroscopic inversion at 8p23.1. As the six patients with KS represent different races, this duplication may represent a common etiologic basis for this disorder.

Abnormalities, Multiple↗
PubMed2000

Modified extravesical ureterocystoneostomy of the kidney transplant allograft with completely duplicated ureters.

BACKGROUND: The technique of ureterocystoneostomy for completely duplicated ureters has not yet been established. We report on a case of a living-related transplant recipient who successfully received his mother's kidney having completely duplicated ureters. METHODS/RESULTS: The recipient was a 33-year-old male patient introduced to hemodialysis due to focal glomerulosclerosis. The donor was his 60-year-old mother having left completely duplicated ureters. We adopted the modified extravesical ureterocystoneostomy technique. Postoperative drip infusion pyelography and voiding cystography of the recipient showed no evidence of urinary tract obstruction or vesicoureteral reflux. CONCLUSIONS: We conclude that this technique is suitable for the transplantation of the kidney with complete ureteral duplication.

Adult↗
PubMed1996

The prenatal sonographic appearance of enteric duplication cysts.

Enteric duplication cysts are rare lesions, and relatively few cases have been diagnosed prenatally. We report two cases with a distinctive presentation. One, a duplication of the antrum of the stomach, was adjacent to an extralobar pulmonary sequestration. The other, a duodenal duplication, appeared as a thick-walled right lower quadrant cyst. We observed distinct peristalsis in this cyst, a finding that helped us make a firm diagnosis of enteric duplication.

Adult↗
PubMed2003

Diagnosis and treatment of foregut duplications.

In its broadest sense, the term, foregut duplication encompasses the full spectrum of developmental aberrations of the embryonic foregut (bronchopulmonary and alimentary tract). Evidence is emerging that the notochord may have a pivotal role to play in foregut development through the Shh-GLi signalling pathway. The investigation and management of these lesions depends on the clinical presentation and the level of the foregut affected. The presentation of symptomatic foregut duplications also depends on any space-occupying effect they exert and where specific complications related to the malformation occur, such as when the mucosal lining contains acid-secreting cells. In a minority of cases, (eg, where they cause respiratory compromise or spinal cord compression) urgent intervention is required. In the remainder, precise diagnostic imaging according to the level and location of the foregut duplication provides the necessary information to plan surgical excision of the lesions. Magnetic resonance imaging best shows the relationships of complex bronchopulmonary foregut malformations and associated anomalies of the spine. eg, neurenteric canal. Most lesions can be excised with minimal morbidity. Minimal-access surgical techniques can be applied to the simpler cysts, particularly some bronchogenic cysts. Thoraco-abdominal duplications and neurenteric cysts require careful preoperative delineation and more complex surgery.

Abnormalities, Multiple↗
PubMed2001

Anal canal duplication in infants and children--a series of 6 cases.

The authors present a series of six anal canal duplications (ACD), duplications of the alimentary tract located along the posterior side of the anal canal, with a perineal opening just behind the anus. Five asymptomatic duplications were diagnosed before the age of one year, by simple perineal inspection. A twelve-year-old girl presented with perineal and anal pains and diarrhoea. Fistulography revealed a tubular structure in five cases and a cystic structure in one case, behind the normal anal canal, in one case communicating with it. A presacral sacrococcygeal teratoma was found in two children and in one case it was visualised by preoperative US in an infant with a lumbosacral myelomeningocele. Surgical excision was performed by a perineal approach in 5 cases, by a combined sacral and perineal approach in the last case, because of the associated teratoma. Non-invasive preoperative investigations, consisting of a pelvic X-ray, US examination, barium enema and fistulography, are sufficient in most cases; MRI is reserved for special indications. Surgical treatment restores a normal perineal aspect, without sequelae, and avoids complications like those described in other types of digestive duplications: infection, ulceration, bleeding, malignant changes during later adult life. Associated anomalies are frequently described in the literature, especially presacral tumours (16%) and anorectal malformations (21%); they can influence the management, the surgical approach and the functional prognosis.

Anal Canal↗
PubMed2003

Antenatal detection of a communicating duodenal duplication.

We report a case of a subhepatic cystic mass diagnosed in utero by antenatal ultrasonography (US) at 15 weeks' gestation which subsequently proved to be a communicating duodenal duplication. In this male foetus, the differential diagnosis was choledochal cyst, congenital biliary atresia, foregut duplication or omentum cyst. Neonatal US examination lead to a diagnosis of duodenal duplication, also confirmed by barium gastrointestinal series. He was operated on day 8 and recovered uneventfully. We discuss the accuracy of antenatal US in the diagnosis of such right upper quadrant cystic masses. Now that antenatal findings are becoming increasingly sensitive in the detection of foetal anomalies, and parents need to be informed about the suspected pathology and its prognosis, we tried to determine, in the light of this case and a review of the literature, how antenatal US findings can offer more accuracy in the diagnosis of duodenal duplication.

Adult↗
PubMedDate not supplied

Congenital duplication of the thumb.

Duplication or polydactyly of the thumb is among the most common congenital deformities that involve the hand. The purpose of this presentation is to review the Mayo Clinic experience with thumb duplication and to present preferred operative procedures to achieve the best clinical outcome and esthetic appearance for the hand. We propose that a combination or "best of parts", utilizing the components of both duplicates with retention of the ulnar duplicate as the base for reconstruction will provide the most functional clinical result. A clinical grading system and analysis of results from our personal experience during two different time frames provides the scientific support for our conclusions that combination procedures are preferred to simple excisions or to central joining of parts as in the Bilhaut-Cloquet procedure.

Child↗
PubMed2006

Completely isolated, noncontiguous duplication cyst.

Enteric duplication cysts are hollow, epithelium-lined, cystic, or tubular structures that are intimately attached to a portion of the gastrointestinal tract. Completely isolated duplication cysts are an extremely rare variety of gastrointestinal duplications with their own exclusive blood supply. Only two such previous cases have been reported in the literature so far. We report a third case of completely isolated, giant duplication cyst with a vascular pedicle in a four-day-old neonate with a review of the literature.

Cysts↗
PubMed1997

Perinatal management of enteric duplication cysts of the tongue.

Intra-oral enteric duplication cysts are rare. We recently treated two infants with prenatally diagnosed large sublingual enteric duplication cysts. Antenatal aspiration of the cyst was attempted in one infant without success. Because of the potential for airway obstruction and respiratory distress at delivery, preparation for an immediate tracheostomy was made in case oral intubation was impossible. Fortunately, aspiration of the cyst provided adequate access to the oropharynx for intubation in both infants. The placental cord was not divided until the airway was secured to minimize the potential for anoxic injury. Complete excision of the cyst was subsequently done in one patient. The other infant had an initial marsupialization and laser ablation of the cyst mucosa but the cyst recurred. Cyst excision at 9 months of age resolved the problem. Pathological examination revealed columnar-lined mucosa consistent with enteric duplication cysts. An enteric duplication cyst may present as a large sublingual mass with potential for airway obstruction in the newborn infant. Antenatal diagnosis allows for the proper preparation of personnel and equipment in the management of these neonates during delivery. If the airway is compromised, aspiration of the cyst can be done to improve the access to the oropharynx for intubation. Preparation for emergent tracheostomy should be done before delivery in case oral intubation is not possible. Subsequent complete cyst excision is the treatment of choice.

Airway Obstruction↗
PubMed1990

[Occurrence of cancers in duplications of the digestive tract].

Sometimes duplications of the digestive tract are diagnosed not before adulthood. Single cases of malignant tumours in combination with duplications have been described previously. The poor incidence of this entity is documented by less than 20 reports in the last 107 years. There are so far no reports concerning the development of carcinomas within tubulous duplications of the oesophagus. The case of an adult patient having oesophageal duplication with an adenocarcinoma is reported.

Adenocarcinoma↗
PubMed1986

Duplication of the entire small intestine--a case report.

The authors report a case of duplication of the entire small intestine manifested by frequent haemorrhages originating from a peptic ulcer located distally to the duplication. The peptic ulcer was provoked by the ectopic gastric mucosa of the duplication. Surgery consisted "stripping" the mucosa of the duplicated tract according to Wrenn's technique. Other surgical methods for treating this malformation are discussed in detail. The literature describing similar cases is reviewed.

Choristoma↗
PubMed1981

[A case each of complete duplication of the stomach and of the duodenum (author's transl)].

Previous reports of the very rare observations concerning complete duplication of the stomach and of the duodenum are reviewed and such a case is described. Radiological examination and gastroscopy showed complete duplication of the stomach, the abnormal organ being situated dorsal to the normal stomach and communicating with it at three separate points--fornix, body and antrum, and also through a duodenal diverticulum. In addition the authors describe complete duplication of the bulb and descending part of the duodenum, connecting through a duodenal diverticulum. The pathogenesis of these duplications and their relationship to duodenal diverticula is discussed.

Aged↗
PubMed1983

[Complete duplication of the small intestine in childhood].

The article reports on two cases of complete duplication of the small intestine in an infant of 7 months of age (female) and a boy aged 3 1/2 years. The almost complete lining of the duplicated small intestine with gastric mucosa resulted in massive haemorrhages. These haemorrhages, in conjunction with ileus, were the indications for an operation. Mucosectomy was performed in the region of the duplication. Such removal of the mucosa is recommended in complete duplication of the small intestine and in partial tubular forms.

Anemia↗
PubMed1992

Multiple intestinal duplications in a child with thoracic myelomeningocele and hydrocephalus.

An infant with thoracic spina bifida, myelomeningocele and hydrocephalus was found to have intrathoracic gastric duplication and noncontiguous tubular duplication along two-thirds of the small bowel. The myelomeningocele was closed and the hydrocephalus relieved with a shunt. The intrathoracic duplication was excised in toto and the intra-abdominal malformation successfully treated by stripping the entire mucosal tube from within the duplication.

Abnormalities, Multiple↗
PubMed1995

Spheric duodenal duplication in a 13-year-old child.

Duodenal duplications are rare. Modern imaging procedures demonstrate the relation of the duplication to the duodenum and the adjacent organs. Thus the surgical procedure can be selected preoperatively. Endoscopic ultrasound is an excellent technique for visualizing a duodenal duplication. A cystic duodenal duplication measuring 6 cm in diameter was resected in a 13-year-old boy.

Adolescent↗
PubMed1996

Total tubular duplication of the colon and distal ileum combined with transmesenteric hernia: surgical management and long-term-results.

A two-year-old male with total tubular duplication of the colon and distal ileum combined with transmesenteric hernia is presented. Recurrent abdominal pain, distention of the abdomen and chronic constipation were the main complaints. A side-to-side anastomosis created through the lowermost part of the common wall of the duplication and colon proper, plus closure of the mesenteric defect and excision of the duplicated ileal loops relieved the patient of all symptoms. Postoperative stagnation of the stool in the closed hollow end of the duplication caused distention developing into a prolapsing pouch which required excision by transanal approach six years after the laparotomy.

Child, Preschool↗