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At least 667 records · Page 37Linked to original sources
PubMed2005

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.

Age Factors↗
PubMed1999

[Duplications of the wing-hinge structures in the Pth mutants of drosophila melanogaster].

The Pth mutation of Drosophila melanogaster, a unique dominant mutation obtained by us, causes the notum duplications that are followed by the duplications of ventral and dorsal wing-hinge structures. The duplications of the wing hinge have a strictly coordinated structure, can be ranged in a continuous series, and are divided into four distinct types, none of which overlaps with the other. The order of the emergence of the ventral wing-hinge structures was determined in duplication forms, and the shape, size, and location of these structures were compared with normal parameters. The growth of the presumptive wing-hinge region was shown to have a vectorial mode; the directions of the main vectors and their center were determined. A geometrical model is proposed, which adequately explains the strict specificity in the structure of duplications as well as the agreement between the duplication forms to one another in each of the four types.

Animals↗
PubMed2002

[Intestinal duplications. A survey of 18 cases].

OBJECTIVE: The present study analyses the experience of two centers in the management of intestinal duplications in children. MATERIAL AND METHODS: We retrospectively reviewed the medical records of a series of 18 children with intestinal duplication (January 1993 to December 1999). The median age was 11 months (range: 9 days to 12 years). The variables analysed were: clinical presentation, diagnosis, localization, anatomic type, treatment, and complications. The relationship between age and clinical presentation was also analysed. RESULTS: Most cases were located in the ileum (n 14; 78 %) and presented with rectal bleeding (36 %) or intussusception (36 %). Most symptomatic cases in the first year of life presented with intussusception (n 5/6). All duplications, except one located in the ascending colon, were cystic. 99mTc-pertechnate abdominal scan was positive in three out of five patients. One case was diagnosed by prenatal ultrasonography. Diagnosis was confirmed by laparoscopy in three patients and by laparotomy in the remaining patients. In one patient, cystic esophageal duplication presented in the neonatal period as respiratory distress. Diagnosis as well as excision was performed by thoracoscopy. Of the two gastric duplications, one was diagnosed by prenatal ultrasonography and the other by laparotomy. Treatment consisted of segmental enterectomy (n 14) or excision of the lesion without enterectomy (n 4). No complications were found during a mean follow-up of 3 years. CONCLUSIONS: The onset of intestinal duplication may be late. The lesions were most commonly located in the ileum and were cystic. Clinical presentation was related to age. Minimally invasive surgery plays an important role in the management of these lesions.

Child↗
PubMedDate not supplied

[Urethral duplication in pediatric age. A case report].

Urethral duplication is a rare congenital anomaly, resulting from a wide range of malformations of the urogenital sinus. Generally, the duplication develops on the sagittal plane; the accessory urethra may run dorsally or ventrally to the orthotopic one. The duplication is defined as epispadic in the first case, and hypospadic in the second. In the medical literature approximately 150 cases have been reported. Relatively more frequent among males, it is often associated with other malformations of the urogenital tract or other organs. The authors present a case of a 4 year old child with a complete epispadic duplication, that is, two external meatus, one of which the dorsal aspect of the glans, and the other orthotopic. Clinically, duplication and weakening of the stream, urinary incontinence and UTI were present. US examination documented the normality of the upper urinary tract and of the bladder. Retrograde urethrocystography showed a completely permeable urethral duplication, with two external meatus. The excision of the accessory urethra was carried out together with the reconstruction of the hypospadic meatus with an "overlap anastomosis". The post-operatory period was uneventful, and one year after surgery the patient is asymptomatic, with normal uroflowmetric readings and echographically documented complete bladder emptying. In the opinion of the authors, the treatment is indicated in symptomatic forms and the surgical options varies, depending on the type and grade of malformation, its clinical manifestations and the presence of associated anomalies. Antibiotic treatment is not effective and other treatments, such as diathermocoagulation or the injection of caustic substances into the accessory duct have been abandoned.

Child, Preschool↗
PubMed2003

Prenatal sonographic findings of congenital duplication of the cecum.

BACKGROUND: Alimentary tract duplications are rare congenital lesions that may arise at any location throughout the gastrointestinal tract. The most common site of enteric duplications is the ileum, with only 13% of cases occurring in the colon. CASE: Prenatal sonography at 39 weeks' gestation showed a cystic structure with thick walls exhibiting clear peristaltic movements in the right lower fetal abdomen. Inner walls of the cystic structure had small folds suggestive of colonic haustra. The sonographic findings and location of the finding were consistent with duplication of the colon and, possibly, the cecum. Congenital duplication of the cecum was proven at neonatal laparotomy. Ileocecal resection with ileocolonic anatomosis was performed and congenital duplication of the cecum confirmed by pathology examination of the resected specimen. CONCLUSION: Unusual sites of alimentary tract duplications detected by prenatal ultrasound include the cecum.

Adult↗
PubMedDate not supplied

MR angiographic demonstration of bilateral duplication of the extracranial vertebral artery: unusual course and review of the literature.

Duplication of the vertebral artery is a rare developmental anomaly. Duplication and fenestration are terms often used incorrectly and interchangeably in the literature. To the best of our knowledge, this is the first report to describe bilateral duplication of the extracranial vertebral artery. Bilaterally, there are 2 separate origins of each vertebral artery from the corresponding subclavian artery, with one duplicated segment entering the C7 foramen transversarium bilaterally and the other segment entering the carotid space on either side. The duplicated vessels join together at C5-C6 disk level on the left and at C4-C5 disk level on the right before continuing as one vessel in the foramina transversaria on either side. Duplication is thought to represent failure of controlled regression of 2 intersegmental arteries and a segment of the primitive dorsal aorta. This case was discovered on a 2D time-of-flight and contrast-enhanced neck MR angiogram in an 83-year-old man with cognitive decline and appears as an incidental finding without obvious clinical implications.

Aged, 80 and over↗
PubMed1991

Duplication of a methionine within the glycoprotein Ib binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type IIB von Willebrand disease.

von Willebrand disease (vWD) type IIB is characterized by an increased reactivity of von Willebrand factor (vWF) with platelets and a lack of large multimers. Exon 28 of the vWF gene encodes for functional domains involved in the binding of vWF to GPIb, and it is presumed that the defects in type IIB vWD lie within or adjacent to these functional domains. We screened overlapping DNA fragments generated by the polymerase chain reaction (PCR) that spanned the 1,379 bp of exon 28 of a type IIB vWD patient using denaturing gradient gel electrophoresis (DGGE). To increase the power of DGGE to detect base changes, we used the PCR to attach a G + C-rich sequence. In the type IIB patient, a DNA fragment at the 5' end of exon 28 demonstrated homoduplex and heteroduplex complexes after DGGE, a pattern characteristic of heterozygous genes after melting and reannealing during the PCR. Sequencing of the cloned insert from the patient showed a duplication of an ATG in one gene coding for a Met at amino acids 540 to 541 in the mature vWF subunit. This duplication leads to three consecutive methionines in the patient's sequence. The duplicated Met resides within a disulfide bond loop proposed to be important in the function of the GPIb binding domain of vWF. The patient's nephew, who also has type IIB vWD, showed the same duplicated codon, linking the defect to the abnormal phenotype in this family. These nucleotide changes were not found in 100 chromosomes analyzed either by DGGE or hybridization with an allele specific oligonucleotide containing the duplicated ATG codon. In addition, the same oligonucleotide hybridized only to DNA from type IIB vWD individuals and not to DNA from normal members of the family. Therefore, we conclude that this duplicated Met modifies the GPIb binding domain of vWF and causes type IIB vWD in this family.

Base Sequence↗
PubMed1990

[Perforated tubular duplication of the sigmoid colon in adults].

Intestinal duplications are rare malformations and a diagnostic challenge. The case presented herein relates to a perforated tubular duplication of the sigmoid colon in a 23-year-old man with intermittent abdominal pain during 3 months and a bout of peritonitis which resolved spontaneously. This case is unusual since duplications generally spare adults, are seldom found in the colon, and do not perforate. The only cases of duplication which can be suspected preoperatively belong to the communicating type or those containing ectopic gastric mucosa. The intraoperative finding in this case of a malformative mesenteric cyst reminds us that duplications can be found in association with other intestinal, vertebral, or genitourinary tract malformations. In conclusion, intestinal duplications should be resected even when they are asymptomatic, as occasional cancerous transformation associated with a poor prognosis have been reported.

Abscess↗
PubMed1978

Gene duplication in Saccharomyces cerevisiae.

Five independent duplications of the acid-phosphatase (aphtase) structural gene (acp1) were recovered from chemostat populations of S. cerevisiae that were subject to selection for in vivo hyper-aphtase activity. Two of the duplications arose spontaneously. Three of them were induced by UV. All five of the duplication events involved the transpositioning of the aphtase structural gene, acp1, and all known genes distal to acp1 on the right arm of chromosome II, to the terminus of an arm of other unknown chromosomes. One of the five duplicated regions of the right arm of chromosome II was found to be transmitted mitotically and meiotically with very high fidelity. The other four duplicated regions of the right arm of chromosome II were found to be unstable, being lost at a rate of about 2% per mitosis. However, selection for increased fidelity of mitotic transmission was effective in one of these strains. No tandem duplications of the aphtase structural gene were found.

Acid Phosphatase↗
PubMed1986

[A case of primary ureteral carcinoma in the duplicated renal pelvis and ureter diagnosed by transurethral uretero-renoscopy].

We present a case of primary ureteral carcinoma in the duplicated renal pelvis and ureter diagnosed by transurethral uretero-renoscopy. The case was of a 78-year-old man with the complaint of sudden asymptomatic macrohematuria. An excretory urogram strongly suggested the presence of duplication of the right collecting system, and cystoscopy revealed a gross hematuria from the right ureteral orifice. A retrograde ureteropyelogram revealed incomplete duplication of the right renal pelvis and ureter fused at about the ureter crossing over the iliac vessels, and a polyp-like filling defect in the lower segment of duplicated ureter at about 4 cm from the fusion of the ureters. Transurethral uretero-renoscopy was employed to investigate the filling defect, and a papillary tumor extended into the lower segment of duplicated ureter was revealed. Tumor was resected by a rigid operating instrument under transurethral uretero-renoscopy. The pathological diagnosis was grade I-transitional cell carcinoma of the ureter, so that right total nephroureterectomy with partial cystectomy was carried out subsequently. Surgical specimen after right total nephroureterectomy with partial cystectomy showed no other tumor in the pelvis or ureter macroscopically, and histopathological studies of surgical specimens were no evidence of malignancy. We believe that transurethral uretero-renoscopy significantly increases the diagnostic accuracy in determining the nature of upper urinary tract lesions, and this procedure is indispensable in the diagnosis of ureteral tumors. The present case was the 7th case of primary ureteral carcinoma in the duplicated renal pelvis and ureter in the Japanese literature.

Aged↗
PubMed1984

Duplicated immunoglobulin gamma 2a genes in wild mice.

The Japanese wild mouse, Mus musculus molossinus, has duplicated immunoglobulin gamma 2a genes, whereas most of the laboratory-strain mice have single gamma 2a genes. This duplication provides a unique system in which molecular mechanisms of the evolutionary rearrangement of the immunoglobulin gene can be studied. For this purpose it is important to elucidate the organization of the immunoglobulin genes surrounding the duplicated gamma 2a genes. It is also interesting to assess the distribution of this haplotype among the wild mouse population. Partially overlapping chromosomal segments that encompass the gamma 2b, gamma 2a-1, gamma 2a-2, and epsilon genes were isolated from phage libraries containing DNA fragments from M. m, molossinus. The organization of this region has been elucidated as 5'-gamma 2b-(18 kb)-gamma 2a-1-(19 kb)-gamma 2a-2-(14 kb)-epsilon-3'. Both gamma 2a-1 and gamma 2a-2 genes have their own switch regions in the 5' flanking region. Two homology units of 13 kb, each containing the gamma 2a gene, were identified. The homology units alternate with repetitive sequences of low homology, making the location of the recombination site obscure. Seventeen of 31 Japanese and Chinese wild mice screened had duplicated gamma 2a genes, indicating a wide distribution of this genetic event in the Asian wild mouse population. Moreover, three alleles each of the gamma 2b and gamma 2a loci have been observed in this small sample population. An unequal crossing-over event between heterologous haplotypes is proposed to account for the duplication of the gamma 2a gene, and a candidate for one member of the pair was identified among wild mouse haplotypes. These results suggest that the immunoglobulin heavy-chain gene family of the Japanese and Chinese wild mouse subspecies has accumulated not only polymorphic divergence due to point mutations, but also dynamic rearrangements such as gene duplication, during its recent evolution since divergence of these subspecies from the European subspecies about one million years ago.

Animals↗
PubMed1978

[Renal duplication in childhood. Incidence and clinical significance (author's transl)].

Renal duplication is the most common malformation within the urinary tract system and as such a particular challenge to the pediatrician with regard to diagnosis and therapy. It is discovered either by chance or in relation to chronically recurring urinary tract infections. Urinary tract infection is the main clinical symptom in 2/3 of all the patients with renal duplication. Incidence, age-and sex-distribution, predilection of side or bilateral occurrence, configuration of the ureter and the statistically significant combination with vesico-uretral reflux show systematic regularities and are discussed in connection with the literature. Ureterocele, concrements, obstructions or hydronephrosis often are consequences of renal duplication or, as with hydronephrosis, correlated malformations like aplasia, hypoplasia, malrotation, horseshoe kidney or duplication of the urethra. There is a causative relation between renal duplication and tumors or tuberculosis. Other correlated malformations are particularly heart malformations or myelomeningocele. It depends on the severity of the disease whether therapy will be symptomatic or operative. Between 1968 and 1974 we saw 114 children with renal duplication.

Abnormalities, Multiple↗
PubMed1994

Gene duplications and the origins of vertebrate development.

All vertebrates possess anatomical features not seen in their closest living relatives, the protochordates (tunicates and amphioxus). Some of these features depend on developmental processes or cellular behaviours that are again unique to vertebrates. We are interested in the genetic changes that may have permitted the origin of these innovations. Gene duplication, followed by functional divergence of new genes, may be one class of mutation that permits major evolutionary change. Here we examine the hypothesis that gene duplication events occurred close to the origin and early radiation of the vertebrates. Genome size comparisons are compatible with the occurrence of duplications close to vertebrate origins; more precise insight comes from cloning and phylogenetic analysis of gene families from amphioxus, tunicates and vertebrates. Comparisons of Hox gene clusters, other homeobox gene families, Wnt genes and insulin-related genes all indicate that there was a major phase of gene duplication close to vertebrate origins, after divergence from the amphioxus lineage; we suggest there was probably a second phase of duplication close to jawed vertebrate origins. From amphioxus and vertebrate homeobox gene expression patterns, we suggest that there are multiple routes by which new genes arising from gene duplication acquire new functions and permit the evolution of developmental innovations.

Amino Acid Sequence↗
PubMed1995

Clustering of diverse replicated sequences in the MHC. Evidence for en bloc duplication.

The MHC contains clusters of polymorphic duplicated genes and gene sequences. It has been thought that these duplicated genes and sequences have arisen from single gene duplications. We compared the cloned region between TNF and HLA-B with the region in close proximity to HLA-A using sequence analysis and DNA hybridization. The results indicate that several sequences existing in the region centromeric of HLA-B are also present in close proximity to HLA-A. These include sequences belonging to the P5, BAT1, and PERB11 gene families as well as HLA class I gene sequences. Interestingly, when the two regions of approximately 200 kilobases are compared, the replicated sequences are organized similarly but in an inverted fashion suggesting the existence of an historical inverted en bloc duplication. Thus, we propose that the origin of these MHC gene clusters involves several mechanisms. In addition to single gene replication, a long-range duplication of a genomic block must have occurred. It is possible that a block at the telomeric end of the MHC represents a basic functional genomic unit conserved and duplicated en bloc.

Blotting, Southern↗
PubMed1993

Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a.

Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the peripheral myelin protein PMP 22 (the critical gene in this subtype of CMT1) is located within this duplication. To detect this duplication in chromosomal DNA from individuals thought to have CMT1, we compared the hybridization signals of two DNA probes within this duplication (VAW412R3a and VAW409R3a) with the signal of a reference probe (E3.9). When duplication was present, the signals from the first two probes increased from 100% (for nonduplicated samples) to 145% and 142%, respectively. The day-to-day variance was 3.7% and 5.1%, respectively. We demonstrated this DNA duplication in 49 of 95 DNA samples from unrelated individuals thought to have CMT1. Moreover, because hereditary neuropathy with liability to pressure palsies (HNPP) is based on a DNA deletion in the same area of chromosome 17, this quantitative test may be useful in establishing the presence of HNPP. In a preliminary investigation, four unrelated patients with HNPP yielded test values of 63% and 54%, respectively, of those for nonduplicated samples (CV 19% and 18%, respectively; n = 4), suggesting a deletion in 17p11.2.

Autoradiography↗
PubMed1996

[A case of intrapancreatic duodenal duplication communicating with the biliopancreatic channel].

Intestinal duplications are rare and are usually diagnosed in the first two years of infancy. They can occur at any level of the alimentary tract from the oral cavity to the anus. Duodenal duplication accounts for approximately 7% of all intestinal duplications. A previously healthy 4-year 6-month old boy was admitted with progressive increasing vomiting. Physical examination was normal, the serum amylase level was moderately increased. Upper gastrointestinal series showed an extrinsic compression defect of the proximal duodenum. Ultrasonography showed a 3 cm diameter cyst in the head of the pancreas. A duplication was suggested. Helical CT cholangiography showed a communication between duplication and the biliopancreatic common channel. The biliary tree was normal. Surgical resection of the intrapancreatic lesion was performed. Microscopic examination of the specimen revealed a duodenal duplication.

Child, Preschool↗
PubMed1996

Internal tandem duplication of the flt3 gene found in acute myeloid leukemia.

We analyzed mRNA expression of the flt3 gene in 30 patients with acute myeloid leukemia (AML) and 50 with acute lymphoblastic leukemia (ALL). Using reverse transcriptase-polymerase chain reaction (RT-PCR), expression of flt3 was observed in 61 patients; 22 (73%) with AML and 39 (78%) with ALL. Among these, five patients with AML (one M2, two M4, and two M5) showed unexpected longer transcripts with a primer combination which could amplify the transmembrane (TM) domain through the juxtamembrane (JM) domain. For those patients who expressed flt3 mRNA, the extracellular domain of the flt3 gene was also examined by RT-PCR, but no length abnormality was seen in this region. We further analyzed the TM domain through the second tyrosine kinase domain by genomic amplifications. The five patients who showed aberrant flt3 transcripts exhibited abnormal longer PCR products in addition to the germline products at a region corresponding to the JM through the first TK (TK1) domains. Sequence analyses of the abnormal RT-PCR products demonstrated that partial sequences were tandemly duplicated. Because all these altered transcripts were in-frame, deduced protein products could be expected. Sequence analyses of the genomic DNA revealed that three of the five patients showed a simple internal duplication within exon 11; one had an internal duplication (26 bp) with a 4-bp insertion; and in the fifth patient, a 136-bp sequence from the 3' part of exon 11 to intron 11 and the first 16-bp sequence of exon 12 were each duplicated with 1-bp insertion. In order to confirm the tumor specificity of these alterations, DNA samples obtained at complete remission were also analyzed in the three patients harboring an flt3 duplication, but no abnormal PCR product other than germline was detected in any of the samples. Our results suggest that an internal tandem duplication at the JM/TK1 domains of the flt3 gene is a somatic change detected preferentially in AML, possibly containing a monocytic component.

Acute Disease↗
PubMed1998

Middle cerebral artery variations: duplicated and accessory arteries.

PURPOSE: Our goal was to analyze the anatomic similarity between the duplicated middle cerebral artery (MCA) and the accessory MCA and their relationship to the early branches of the MCA. METHODS: We reviewed stereoscopic angiograms of duplicated MCAs in four patients and accessory MCAs in four patients with reference to the origin, size, and cortical supply of these anomalous vessels, along with the presence of perforating arteries and the recurrent artery of Heubner (RAH). RESULTS: The duplicated MCAs supplied the cortical territory of the temporopolar and the anterior temporal and/or middle temporal arteries. The accessory MCAs supplied the cortical territory of the orbitofrontal and/or prefrontal arteries. The duplicated MCAs had perforating arteries in three of four cases and coexisted with the RAH in three of four cases, whereas the main MCA had perforating arteries in all four cases. The accessory MCA had perforating arteries in all four cases and coexisted with the RAH in three of four cases, whereas the main MCA had perforating arteries in one of four cases. CONCLUSION: A consistent cortical supply by the duplicated MCA and the accessory MCA to the anterior temporal lobe and the anterior frontal lobe, respectively, and its similarity to the cortical supply by the early branches of the MCA suggest that development of duplicated and/or accessory MCAs is an anomalously early ramification of the early branches of the MCA.

Adult↗