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PubMed1982

Duplication of the müllerian ducts and genitourinary malformations. Part I: the value of excretory urography.

Forty-seven females with duplication of the uterus and cervix were retrospectively studied and their associated urinary tract malformations were analyzed. In 31 of the patients duplication of the müllerian ducts was diagnosed during the work-up for major genitourinary malformations that corresponded to three main complexes of anomalies: cloacal anomalies (16 patients), exstrophic deformities (4 patients), and renal malformation on the same side as an occluded müllerian duct (11 patients). Another five patients with normal kidneys had incomplete müllerian duct fusion discovered incidentally at autopsy, surgery, or during the work-up for urinary tract infections. None of the 11 women examined by excretory urography following the discovery of duplication of müllerian ducts by hysterosalpingography had urinary tract abnormalities. Therefore, although failure of fusion of the müllerian ducts frequently coexists with other genitourinary anomalies, the associated malformations manifest themselves clinically. Women who are found to have duplication of the reproductive tract during the work-up for infertility and who are otherwise asymptomatic and have a normal physical examination do not require urographic investigation.

Abdominal Muscles↗
PubMed1998

Duplicated superficial femoral veins: a source of error in the sonographic investigation of deep vein thrombosis.

PURPOSE: To determine whether the number of false-negative ultrasound (US) findings of thrombosis is larger when a duplicated femoropopliteal venous system is present. MATERIALS AND METHODS: A retrospective review was performed of 381 venograms obtained after initial US findings were considered negative for thigh or popliteal thrombosis in patients in whom deep vein thrombosis was suspected Venograms were evaluated for the presence of thrombosis and the presence and configuration of duplicated superficial femoral veins. RESULTS: Multiple superficial femoral veins were present on 177 (46%) of the 381 venograms; 149 (84%) were duplex systems. False-negative US findings occurred in four (2%) of 204 patients with single femoral veins and in 10 (6%) of 177 patients with duplicated femoral veins (P = .056, not statistically significant). CONCLUSION: The frequency of missed proximal thrombosis at sonography appears to be increased when duplicated superficial femoral veins are present. Data from clinical and imaging studies are insufficient to support the adoption of a totally noninvasive imaging strategy.

Congenital Abnormalities↗
PubMed2000

An unusual cause of recurrent pancreatitis: duodenal duplication cyst.

Intestinal duplications are rare anomalies that usually present in childhood. Of these, duodenal duplications are among the most uncommon. Although these usually present with obstructive symptoms or bleeding, pancreatitis may occur. A case of duodenal duplication cyst causing recurrent pancreatitis in a 12-year-old girl is presented. The literature on duodenal duplications, and their epidemiology, embryology and pathophysiology is reviewed.

Child↗
PubMed1998

Evolution of motor patterns in tetraodontiform fishes: does muscle duplication lead to functional diversification?

Several times within the teleost fish order Tetraodontiformes singular jaw adducting muscles have been effectively 'duplicated' by physical subdivision to produce new muscles. This morphological system provides an opportunity to investigate how the functional complexity of muscular systems changes with evolutionary increases in the number of component muscles. In this study we asked if muscle duplication has lead to functional diversification by comparing the motor patterns of muscles that result from subdivision events. The activity patterns of five different sets of duplicated muscles were quantified with electromyographic recordings (EMG) from four individuals in each of three species during processing of three prey types. Prey varied in durability and elusiveness (live fiddler crabs, pieces of squid tentacle and live paeneid shrimps). For each cycle of prey processing, measurements were made of the relative onset time of each adductor muscle, the duration of each burst of activity, and the relative intensity of each activity burst. Two types of functional divergence of muscles were observed in analyses of variance conducted on the EMG variables. In two of the 15 variables examined, the timing of activity of the descendant set of muscles differed. In another three of the 15 variables, there were significant interactions between muscle and prey type, indicating a prey effect which differed in the descendant muscles. Overall, evidence of motor divergence was found in three of five cases of muscle duplication. This indicates that muscle subdivision has led to increased functional complexity of the jaw-adductor muscle system in tetraodontiform fishes.

Animals↗
PubMed1999

Chromosome duplications and deletions and their mechanisms of origin.

Duplications and deletions of the same gene loci or chromosome regions are known to produce different clinical manifestations and are significant factors in human morbidity and mortality. Extensive cytogenetic and molecular cytogenetic studies with cosmid and YAC probes in two patients with unique mosaicism for reciprocal duplication-deletion allowed us to further understand the origin of these abnormalities. The first patient's mosaic karyotype was 46,XX, inv dup(11) (q23q13)/46,XX,del(11)(q13q23). The second patient had a 46,XY,dup(7)(p11.2p13)/46,XY,del(7)(p11.2p13)/46,XY karyotype. Fluorescence in situ hybridization studies on the first patient placed the two breakpoints near the folate-sensitive fragile sites FRA11A and FRA11B. The presence of repeated sequences responsible for these fragile sites may have been involved in the patient's duplication-deletion. Our investigation leads us to conclude that, in addition to known mechanisms (such as unequal crossovers between homologs, unequal sister chromatid exchanges, excision of intrachromatid loops, and meiotic recombination within a single chromatid), duplication-deletion can also arise by the formation of an overlying loop followed by an uneven crossover at the level of the DNA strand.

Abnormalities, Multiple↗
PubMedDate not supplied

Intrathoracic alimentary tract duplication cysts treated in utero by thoracoamniotic shunting.

Alimentary tract duplication cysts are rarely diagnosed in utero. We report two fetal patients that presented with intrathoracic alimentary tract duplication cysts, mediastinal shift and hydrops. In one fetus, the cyst continued into the fetal abdomen and pelvis through a left diaphragmatic hernia. Despite successful ultrasound-guided needle aspirations in both fetuses, there was rapid reaccumulation of the fluid and recurrence of the mediastinal shift, prompting the placement of a thoracoamniotic shunt. In one fetus, there was rapid resolution of the mediastinal shift with the disappearance of the hydrops within 2 weeks. The second fetus suffered an intrauterine demise 2 days after the shunt placement. Postnatal resection in the surviving infant revealed a large cyst consistent with an intrathoracic duplication of the stomach. The autopsy of the second fetus revealed an intrathoracic duplication cyst of the stomach and proximal small intestine.

Adult↗
PubMed2002

Neonatal intestinal occlusion due to duodenal duplication in association with malformed gallbladder sludge.

Duodenal duplications are rare observations which can be diagnosed during early pregnancy via US scan. In the neonate they are often cause for intestinal occlusions. Surgical treatment can be limited by the duplication's anatomical interrelationships with adjacent organs. Biliary sludge is an uncommon finding in the first year of life, and can readily regress spontaneously. The association between duodenal duplication and sludge has never been described in the literature in the neonatal period. Here, for the first time, we report on the case of a newborn infant with cystic duplication of the duodenum associated with sludge in a misshapen gallbladder.

Bile↗
PubMed2006

Modified extravesical ureteroneocystostomy for completely duplicated ureters in renal transplantation.

INTRODUCTION: Completely duplicated ureters are the most common congenital malformation of the upper urinary tract. However, there are very few reports on transplantation using kidneys with double ureters, and the technique of ureterocystoneostomy for completely duplicated ureters has not yet been established. PATIENTS AND METHODS: We treated 3 patients with completely duplicated ureters at our institutions from January 1998 to October 2005. We modified the extravesical technique for treating these 3 cases and evaluated the 52-month follow-up period for possible urological complications. RESULTS: Neither urological complications nor urinary tract infections occurred in the follow-up period after using our new technique. CONCLUSION: We conclude that this technique is an appropriate procedure for the transplantation of kidneys with completely duplicated ureters.

Cystostomy↗
PubMed1997

Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease.

Type 1A of Charcot-Marie-Tooth disease (CMT1A) is associated with a microduplication of chromosome 17 (region 17p11.2) which contains PMP22, an important gene for peripheral nerve myelination. Patients carrying two duplications are expected to have a more severe phenotype, close to the Dejerine-Sottas syndrome. In this article, we report a family of 5 CMT1A patients in whom the unrelated father and mother carry a 17p11.2 duplication. The 2 daughters carry only one duplication (one given by the father, the other given by the mother), but the son carries two 17p11.2 duplications. Interestingly, the clinical phenotype of the son is more severe (scoliosis) compared to those of his sisters, but his motor nerve conduction velocities are in the range of a heterozygote CMT1A patient. The mechanisms leading to a more severe phenotype for CMT1A are discussed and may not be strictly related to lower nerve conduction velocities.

Adult↗
PubMed1988

Unusual urethral duplication.

Urethral duplication is a rare congenital anomaly occurring almost exclusively in males. The described varieties include the sagital (Y-duplication), spindle, epispadiac, hypospadiac, complete, incomplete, abortive and collateral duplications. Whereas over 150 cases of this anomaly have been reported in the world literature, the associated findings of an adenocarcinoma of the urinary bladder and a urethral calculus have not been previously encountered. This case report describes the clinical presentation, the extraordinary intraoperative finding of an adenocarcinoma of the fundus of the urinary bladder, the investigative procedures, the management and follow-up of this most unusual complete urethral duplication.

Adenocarcinoma↗
PubMed1996

Duplications of the bulbous urethra: clinicoradiologic findings and therapeutic options.

OBJECTIVES: We evaluated the clinical and radiological aspects of isolated duplications of the bulbous urethra and assessed the results of surgical treatment. METHODS: The experience with 11 male patients presenting with duplications of the bulbous urethra is reported. The duplications were incomplete in 7 cases and complete in 4, the accessory channel was ventral in 8 patients and dorsal in 3. The presenting symptoms were seldom indicative of the condition. Surgical treatment was performed in 10 cases and consisted in transurethral resection of the septum between the two channels in 2 patients, one-stage urethroplasty in 6 and two-stage urethroplasty in 2. RESULTS: With a follow-up ranging between 1 and 4 years the results were considered satisfactory in 4 cases and excellent in 6. CONCLUSIONS: Duplications of the bulbous urethra deserve careful evaluation of the cost-benefit ratio when surgical treatment is considered. The goal of reconstructive surgery, which can be open or transurethral, should be a functional urethral channel.

Adolescent↗
PubMed1997

Endoscopic collagen injection: its limits in correcting vesico-ureteral reflux in duplicated ureters.

OBJECTIVE: The aim of this prospective study was to investigate whether it is possible, by endoscopic collagen injection, to treat vesicoureteral reflux in children with reflux into a totally duplicated ureter system. METHODS: For more than 7 years a prospective study has been in progress on children with grade III or IV reflux (international grading). Injections were made through a pediatric cytoscope, submucosally beneath the refluxing ureteral orifice. 0.2-1.5 ml collagen was injected. Reflux was controlled with direct radionuclide cystography 1 month later. Injections were repeated once or twice (within 3 months from the first injection) if reflux persisted. Additional controls with direct radionuclide cystography were made 6 months and 2 and 4 years later. RESULTS: Up to now, 24 children (27 ureter units) with reflux to a totally duplicated ureter have been treated. After 1 month, 11 out of 24 children were free from reflux; after 6 months only 6 out of 24, after 2 years only 5 out of 23, and after 4 years only 3 out of 13 children were free from the disorder. There was no statistical difference between 1-month, 6-month, 2-year, and 4-year follow-up results. The differences among children with duplicated and single ureters at each control visit were statistically highly significant. There was no significant difference between results in grade III and IV reflux. We had to treat the reflux operatively (Cohen) in 20 of these 24 children (83%). CONCLUSIONS: Most of the children with reflux into a duplicated ureter system cannot be cured by endoscopic collagen injection.

Child, Preschool↗
PubMed2000

Duplication of modules facilitates the evolution of functional specialization.

The evolution of simulated robots with three different architectures is studied in this article. We compare a nonmodular feed-forward network, a hardwired modular, and a duplication-based modular motor control network. We conclude that both modular architectures outperform the non-modular architecture, both in terms of rate of adaptation as well as the level of adaptation achieved. The main difference between the hardwired and duplication-based modular architectures is that in the latter the modules reached a much higher degree of functional specialization of their motor control units with regard to high-level behavioral functions. The hardwired architectures reach the same level of performance, but have a more distributed assignment of functional tasks to the motor control units. We conclude that the mechanism through which functional specialization is achieved is similar to the mechanism proposed for the evolution of duplicated genes. It is found that the duplication of multifunctional modules first leads to a change in the regulation of the module, leading to a differentiation of the functional context in which the module is used. Then the module adapts to the new functional context. After this second step the system is locked into a functionally specialized state. We suggest that functional specialization may be an evolutionary absorption state.

Adaptation, Physiological↗
PubMed1993

Evaluating the variability of duplicate breath alcohol analyses as a function of subject age.

The influence of the person's age upon reproducibility in duplicate breath alcohol analyses is investigated. A total of n = 30,324 duplicate results (with both > or = 0.01 g/210L) were selected and divided into eight age groups from 10-19, 20-29, and up through 80+. Two duplicate agreement criteria, +/- 10% of the mean and +/- 0.02 g/210L, were evaluated according to age. A X2 trend analysis was employed and resulted in: +/- 10% of mean criteria, P < 0.001 and +/- 0.02 g/210L criteria, P > 0.05. The proportions of duplicates not conforming to the two agreement standards along with 95% confidence intervals were: +/- 10% of mean, 0.026 (0.024 to 0.028) and +/- 0.02 g/210L, 0.052 (0.050 to 0.054). Depending on the agreement criteria selected there will be proportional differences, but neither appears to be importantly influenced by the subject's age. The breath sampling criteria employed in the instrument studied does not appear to inhibit acceptable agreement, even in elderly subjects where the risk of respiratory disfunction increases.

Adolescent↗
PubMedDate not supplied

Duplication of the hallux.

Sixteen patients with duplication of the hallux were reviewed. Follow-up averaged 21 years. Duplication may be classified into three groups: simple hallucal duplication, a transitional type with a short thick first metatarsal, and complete first ray duplication. Routine removal of the most medial hallux or ray is to be avoided. Careful preoperative assessment is necessary to compare hallucal function, cosmesis, and metatarsal weightbearing. Surgery should also correct the associated congenital hallux varus. Surgical complications include functionless hallucis from inappropriate selection and medial soft tissue contractures with either recurrence of the hallux varus or the gradual development of a hallux varus interphalangeus.

Adult↗
PubMed1995

High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.

Other investigators reported the presence of low levels of a 260-bp heteroplasmic duplication of mitochondrial DNA in patients with mitochondrial DNA deletions and their asymptomatic mothers. In this study, we were not able to detect this polymorphism in 30 patients with mitochondrial DNA deletions, but the 260-bp duplication was detected in relatively high levels (32% in muscle) in a patient with a slowly progressive mitochondrial myopathy. The duplication was also present in cultured fibroblasts (10%) and in WBC (< 1%). Mitochondrial dysfunction in this patient was evidenced in muscle by the presence of ragged-red fibers and a partial decrease in cytochrome c oxidase activity. We also detected low levels of mitochondrial DNA harboring a triplication of the 260-bp region, indicating that this polymorphism is unstable. Taken together, our results suggest that an unstable 260-bp duplication, which includes important mitochondrial DNA cis-acting regulatory sequences, may be pathogenic per se, if present at high levels.

Base Sequence↗
PubMed2003

Duplication of the abducens nerve at the petroclival region: an anatomic study.

OBJECTIVE: During its course between the brainstem and the lateral rectus muscle, the abducens nerve usually travels forward as a single trunk, but it is not uncommon for the nerve to split into two branches. The objective of this study was to establish the incidence and the clinical importance of the duplication of the nerve. METHODS: The study was performed on 100 sides of 50 autopsy materials. In 10 of 11 cases of duplicated abducens nerve, colored latex was injected into the common carotid arteries and the internal jugular veins. The remaining case was used for histological examination. RESULTS: Four of 50 cases had duplicated abducens nerve bilaterally. In seven cases, the duplicated abducens nerve was unilateral. In 9 of these 15 specimens, the abducens nerve emerged from the brainstem as a single trunk, entered the subarachnoid space, split into two branches, merged again in the cavernous sinus, and innervated the lateral rectus muscle as a single trunk. In six specimens, conversely, the abducens nerve exited the pontomedullary sulcus as two separate radices but joined in the cavernous sinus to innervate the lateral rectus muscle. In 13 specimens, both branches of the nerve passed beneath the petrosphenoidal ligament. In two specimens, one of the branches passed under the ligament and the other passed over it. In one of these last two specimens, one branch passed over the petrosphenoidal ligament and the other through a bony canal formed by the petrous apex and the superolateral border of the clivus. In all of the specimens, both branches were wrapped by two layers: an inner layer made up of the arachnoid membrane and an outer layer composed of the dura during its course between their dural openings and the lateral wall of the cavernous segment of the internal carotid artery. This finding was also confirmed by histological examination in one specimen. CONCLUSION: Double abducens nerve is not a rare variation. Keeping such variations in mind could spare us from injuring the VIth cranial nerve during cranial base operations and transvenous endovascular interventions.

Abducens Nerve↗
PubMed1996

Mouse embryos with paternal duplication of an imprinted chromosome 7 region die at midgestation and lack placental spongiotrophoblast.

Imprinted genomic regions have been defined by the production of mice with uniparental inheritance or duplication of homologous chromosome regions. With most of the genome investigated, paternal duplication of only distal chromosomes 7 and 12 results in the lack of offspring, and prenatal lethality is presumed. Aberrant expression of imprinted genes in these two autosomal regions is therefore strongly implicated in the periimplantation lethality of androgenetic embryos. We report that mouse embryos with paternal duplication of distal chromosome 7 (PatDup.d7) die at midgestation and lack placental spongiotrophoblast. Thus, the much earlier death of androgenones must involve paternal duplication of other autosomal regions, acting independently of or synergistically with PatDup.d7. The phenotype observed is similar, if not identical to, that resulting from mutation of the imprinted distal chromosome 7 gene, Mash2, which in normal midgestation embryos exhibits spongiotrophoblast-specific maternally active/paternally inactive (m+/p-) allelic expression. Thus, the simplest explanation for the PatDup.d7 phenotype is p-/p- expression of this gene. We also confirm that PatDup.d7 embryos lack H19 RNA and posses excess Igf2 RNA as might be expected from the parental-specific activities of these genes in normal embryos.

Animals↗