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PubMed2002

Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.

Duplication of distal 4p results in a recognizable clinical phenotype. We report here on a 3 year old girl with a de novo inverse duplication of the chromosome segment 4p16.3-p15.3. The symptoms in this patient are milder than those of previously described patients with 4p duplication syndrome and include a deep hairline, deep-set eyes, short pug nose, full cheeks, simian crease, clinodactily of the fifth digit, no speech development and a moderate psychomotor retardation. Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe confirmed that the extra material is of chromosome 4 origin. Further analysis with the Wolf-Hirschhorn critical region probe demonstrated the duplication of this region. The lysosomal hydrolase alpha-L-iduronidase (IDUA) gene which is mutated in mucopolysaccaridosis type I (MPS I) and mapped to 4p16.3 might be responsible for some of the MPS like facial features. A phenotype-genotype correlation analysis in combination with literature review was undertaken to allow a further delineation of partial trisomy 4p syndromes.

Abnormalities, Multiple↗
PubMedDate not supplied

[DOUBLE EPIDERMOID CARCINOMA IN A DUPLICATE SMALL INTESTINE. REPORT OF A CASE AND LITERATURE REVISION]

It is postulated that duplications of the intestinal tract have malignant potential. A case of double epidermoid carcinoma derived from a tubular duplication of the terminal ileum is described. The neoplasias came from areas of squamous metaplasia located in the mucosal lining at both ends of the duplication, invading the wall of the duplicated intestine. No metastasizing to the regional lymph nodes appeared. The 32-years-old patient has no longer the disease eleven years after the surgical treatment. The purpose of this paper is to review the literature focusing on etiology, diagnosis and treatment.

Journal Article↗
PubMed2001

[Necessary sites: identical duplication of living organisms].

The paper deals with the concept of the identity of living organisms, a concept used up until now very ambiguously. The discussion rests on the combination of two concepts, one proposed by Munzer (1993) and another derived from the considerations of Riedl (1975). The first is the proposal that the identity of living organisms depends on the properties of their elementary constituents, such as cells and tissues, and that these properties, in turn, depend on those of their DNA and RNA. It follows that the identity of a living organism remains constant or changes during life according to whether its DNA and RNA content also remains constant or changes. The second is the consideration that, during duplication of a cell population, the informational content of the population does not increase if the duplicated cells are identical (increase only of redundant DNA). On the other hand the informational content of the cell population increases if the duplicated cells are the result of a variation-selection process (increase of essential DNA). The changes of DNA and RNA content, occurring in the germinal cells during phylogenesis and in the somatic cells of the evolutionary systems during ontogenesis, lead, therefore, to the generation of new identities. Living organisms are suggested to reflect two types of identity, that of the deterministic and that of the evolutionary systems. Since the informational content of the deterministic systems (the essential DNA content) remains approximately constant during life, their identity also remains constant. The changes in the number of elementary constituents and cell volumes during the processes of hypertrophy and atrophy are accompanied only by changes in the amount of DNA (the redundant DNA). On the other hand the informational content of the evolutionary systems (the essential DNA), such as the brain-mind system, the immunological system and some receptor systems, undergo a marked increase during the ontogenic development: this leads to changes of identity of these systems. For example, in the immunological system the process of mutation and recombination of the DNA of the immunological cells leads to the generation of new proteins in the amount about 10,000 times larger than that produced through the decodification of the genome. Also the construction of the neural network, and of a number of synapses much larger than that of the neuronal cells, requires the generation of an amount of new information much larger than that contained in the genome. In short, the attribution of a double identity to living organisms reflects the simultaneous presence of systems developing either within strictly programmed limits or without programs and limits, say as closed or open projects. The difference between the two types of systems explains the different effects in the case of the transplants. The identity of the recipient of transplants is not altered in the case of transplants of a deterministic system but is so in case of transplants of evolutionary systems. There is now a widespread fear of the possibility of human cloning. It is argued that this fear is unjustified because a cloning process can never succeed in duplicating those parts which are essential for the characters of humans, namely those concerned with the properties of the evolutionary systems.

Animals↗
PubMed2003

Infected esophageal duplication cyst simulating empyema.

Duplications of the esophagus are the second most common duplication of the gastrointestinal tract. The children with esophageal duplication cyst usually present with respiratory distress or as asymptomatic thoracic mass found on incidental chest x-ray. We report a case of infected esophageal duplication cyst initially confused with empyema in a two years old boy.

Child, Preschool↗
PubMed1992

Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus.

The presence of 17p11.2 duplication in CMT 1 Italian families was studied. Fourteen families were tested with pVAW409R3a probe which detects the duplication at D17S122 locus. The duplication was found in all affected individuals, but not in the unaffected relatives and in the unrelated spouses. Also two sporadic cases were investigated: the duplication was present in both patients confirming this mutation as cause of the disease.

Charcot-Marie-Tooth Disease↗
PubMedDate not supplied

Laparoscopic treatment of a gastric duplication cyst: report of a case.

Gastric duplications are rare benign tumors that are mainly discovered in relatively young patients. Although laparoscopic surgery, a less invasive surgical procedure, should be used for this condition, its application in the treatment of this disease has not yet been reported. A 14-year-old girl visited our hospital with the chief complaint of repeated episodes of upper abdominal pain. Because diagnostic imaging revealed a cystic tumor in the dorsal stomach, laparoscopic surgery was performed. The cystoma was intraoperatively found to contiguous with the posterior wall of the gastric cardia and was thus diagnosed to be a gastric duplication. With the intraoperative aid of gastroscopy, we were able to remove the cystoma from the continuous gastric wall safely without causing either a perforation or any other injury to the stomach. Gastric duplication is a congenital disease, and thus the majority of such cases are diagnosed in childhood. A laparoscopic resection of a duplicated stomach is less invasive and esthetically superior to other methods, and therefore it is considered to be a useful therapeutic modality.

Adolescent↗
PubMed2003

Overcounting of black Africans in the UK: the problem of undetected record duplication.

Difficulties in recording unfamiliar African names, leading to inconsistent reporting of 'surname' code of the same individual, has raised concern that there is overcounting of newly diagnosed HIV-positive black Africans in the UK. Date of birth was used as a proxy indicator for duplication of entries of black Africans in the national HIV/AIDS patient database. Significantly more black Africans (59%) than whites (56%) share the same date of birth (p = 0.0023), and among black Africans certain birthdays occur at a very high frequency. Those born in Africa may not know their exact date of birth and so may be choosing, or have chosen for them, memorable or auspicious dates instead. After removal of individuals with birthdays consisting of the same number day and month, the evidence of disproportionate duplication of black Africans' dates of birth was weaker (p = 0.0129). Although this investigation provided evidence of selective failure to detect duplicated reports of the same individual among reports of HIV-positive black Africans, in practical terms, the relatively small proportion (2.4%) of remaining excess duplicates is equivalent to 141 black African individuals on the database, and would not impact on the overall picture of the HIV epidemic in the UK.

Humans↗
PubMed1992

[Various aspects of uretero-ureteral reflux in incomplete ureteral duplication].

This study is a complete review of the common complications related to incomplete ureteral duplication, and based on three clinical cases. These complications include: Recurrent urinary tract infections with pyelonephritis; non functioning of one or both kidney units; Urinary lithiasis and the uretero-ureteral reflux secondary to retrograde ureteral peristalsis. Finally, the surgical treatment of the uretero-ureteral reflux depends on the clinical and radiological symptoms of the patients. Heminephrectomy in case of a non functioning renal segment. Excision of one ureteral segment converting an incomplete ureteral duplication into a bifid pelvis. Conversion of an incomplete duplication into a complete ureteral duplication if the common segment is near the bladder. Nephroureterectomy should be considered in case of non functioning kidney with type IV vesico-ureteral reflux.

Adolescent↗
PubMed1992

[Gastric duplication associated with heterotopic pancreas].

Gastric duplications are the least frequent location for the alimentary tract duplications, these location is approximately 8%. We present a case of gastric duplication in a neonate, who had a palpable abdominal mass and feeding intolerance. Barium study of upper gastrointestinal tract and ultrasound showed an extrinsic compression of antrum and cyst abdominal mass. The surgical procedure consisted of total excision without violation of the gastric lumen. Gastric mucosal was found by hystological study. Heterotopic pancreatic tissue was also found on the major omentum closely gastric cyst duplication.

Choristoma↗
PubMed1992

No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

Three Down syndrome patients for whom karyotypic analysis showed a "mirror" (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region--namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B--by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation.

Adult↗
PubMed2003

Are electronic medical records trustworthy? Observations on copying, pasting and duplication.

As routine use of on-line progress notes in US Department of Veterans Affairs facilities grew rapidly in the past decade, health information managers and clinicians began to notice that authors sometimes copied text from old notes into new notes. Other sources of duplication were document templates that inserted boilerplate text or patient data into notes. Word-processing and templates aided the transition to electronic notes, but enabled author copying and sometimes led to lengthy, hard-to-read records stuffed with data already available on-line. Investigators at a VA center recognized for pioneering a fully electronic record system analyzed author copying and template-generated duplication with adapted plagiarism-detection software. Nine percent of progress notes studied contained copied or duplicated text. Most copying and duplication was benign, but some introduced misleading errors into the record and some seemed possibly unethical or potentially unsafe. High-risk author copying occurred once for every 720 notes, but one in ten electronic charts contained an instance of high-risk copying. Careless copying threatens the integrity of on-line records. Clear policies, practitioner consciousness-raising and development of effective monitoring procedures are recommended to protect the value of electronic patient records.

Hospitals, Veterans↗
PubMed1992

Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.

It has been suggested that partial distal 2p2----2pter duplication causes a relatively well defined clinical syndrome, mostly as regards craniofacial dysmorphism, musculoskeletal and genitalia anomalies. Duplications covering a larger portion of 2p i.e. 2p12 or 2p13----2pter are however less documented. The authors report a new case of partial 2p13----2pter duplication which supplies further evidence for short life expectancy due to the large number of malformations in these partial duplications.

Abnormalities, Multiple↗
PubMed1992

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a pluritissular disorder including diabetes mellitus, skin abnormalities, mitochondrial myopathy with ragged-red fibers, and cerebellar ataxia. Their mother had ptosis, ophthalmoplegia, and muscle weakness. Analysis of the mitochondrial respiratory chain showed a complex III deficiency in both skeletal muscle and lymphocytes of the second girl. Southern blot analysis provided evidence for a heteroplasmic partial duplication of the mtDNA (26 kb), involving one full-length and one partly deleted mitochondrial genome and with one single abnormal junction between the genes for ATPase 6 and cytochrome b. Using PCR amplification of lymphocyte DNA, we were able to detect minute amounts of duplicated molecules in the mother, which provided evidence for maternal inheritance of the partial duplication. While maternal transmission of point mutations have been reported in Leber disease, retinitis pigmentosa, and MERRF disease, this observation is, to our knowledge, the first example of a maternally inherited duplication of the mitochondrial genome in man.

Adenosine Triphosphatases↗
PubMed2005

Anesthetic management of a patient with a mediastinal foregut duplication cyst: a case report.

Foregut duplication cysts are rare. There is no mention of this type of mediastinal mass in searches of the anesthesia literature. A 42-year-old woman undergoing preoperative evaluation for elective bilateral breast augmentation was found by chest radiograph to have a mediastinal mass. She was referred for additional evaluation. After thorough radiographic and physical examination, the patient underwent successful resection of a foregut duplication cyst that involved esophageal, right lung, pericardial, and subcarinal tissues. The location of the foregut duplication cyst, its mass effect, and the anatomical structures involved with the cyst may present numerous challenges for anesthesia providers. Airway management, arterial cannulation, and central venous access may be difficult. In addition, patients with foregut duplication cysts are at risk for pneumothorax, pneumomediastinum, profound hemorrhage, esophageal injury or rupture, vascular lesions, neurologic injury, gastric aspiration, and cardiovascular collapse due to anatomical disturbances caused by the mass. Comprehensive evaluation and development of an anesthetic plan based on this evaluation will improve patient outcome and help prevent potentially catastrophic complications.

Adult↗
PubMed1992

The precision of duplicate prothrombin time and partial thromboplastin time assays in neonates.

An evaluation of duplicate prothrombin time (PT) and activated partial thromboplastin time (PTT) assays was performed in 277 neonatal samples. Performance criteria were analyzed to determine whether single vs duplicate procedures could be utilized reliably without exposing the neonates to the risk of erroneous PT and PTT results. In addition, we evaluated whether this approach might decrease phlebotomy and hence reduce the number of blood transfusions administered. For PT assays, 97.5% (270/277) of the duplicate results were different by 1 second or less. Only 2.5% (7/277) differed by 3 seconds. For PTT duplicates, 75.0% (207/277) of the values were different by 2 seconds or less and 13.0% (36/277) by 2 to 4 seconds. An additional 12.3% (34/277) were discrepant by as many as 4 seconds. The largest discrepancies occurred in specimens with markedly elevated PT and PTT results, indicative of a significant coagulopathy. In addition, heparin neutralization was performed successfully in 22 neonatal blood specimens showing either partial or full correction of PTT values due to heparin specimen contamination. This study indicates that single PT and PTT assays as well as heparin neutralization tests can be accurately performed and may be able to reduce blood donor exposure by as many as one blood transfusion every 2 to 3 days of hospitalization.

Heparin Antagonists↗
PubMed2006

Duodenal duplication cyst with profound elevation of intracystic carbohydrate antigen (CA 19-9) and carcinoembryonic antigen (CEA): a rare but important differential in the diagnosis of cystic tumours of the pancreas.

CONTEXT: Enteric duplication cysts are rare lesions of uncertain incidence and natural history. Pre-operative confirmation of diagnosis can be difficult. This case reports an adult duodenal duplication cyst presenting with grossly elevated intra-lesional levels of tumour markers. CASE REPORT: A 57-year-old female was found to have a complex cystic lesion of the head of the pancreas. Intra-lesional fluid analysis revealed a grossly elevated CA 19-9 and CEA. Resection was undertaken under the assumption that this was a cystic tumour. Macroscopic examination after opening the duodenum revealed a villous, circumferential tumour in the proximal duodenum measuring 4 cm in length. A cystic lesion was present in the medial wall of the tumour and did not communicate with the duodenal lumen. Microscopically, the tumour comprised Brunner's gland hyperplasia with associated mucosal thickening. The wall of the underlying cystic lesion was comprised of muscularis formed by the outer muscle coat of the duodenal wall. The final diagnosis was of a duodenal duplication cyst. There was no evidence of dysplasia or malignancy. CONCLUSION: This is the first report of a duodenal duplication cyst having elevated intra-cyst fluid levels of amylase, carbohydrate antigen CA 19-9 and carcinoembryonic antigen (CEA). Although rare, this is an important differential diagnosis in the management of cystic tumours of the pancreas.

Biomarkers, Tumor↗
PubMed1990

Tandem duplication of proximal 5q.

A 3.5-year-old boy with a de novo tandem duplication 5q11.1----5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11----q13.

Child, Preschool↗
PubMed1991

Pulsed-field electrophoresis screening for immunoglobulin heavy-chain constant-region (IGHC) multigene deletions and duplications.

Genome regions containing multiple copies of homologous genes, such as the immunoglobulin (Ig) heavy-chain constant-region (IGHC) locus, are often unstable and give rise to duplicated and deleted haplotypes. Analysis of such processes is fundamental to understanding the mechanisms of evolution of multigene families. In the IGHC region, a number of single and multiple gene deletions, derived from either unequal crossing-over or looping-out excision, have been described. To study these haplotypes at the population level, a simple and efficient method for preparing large numbers of DNA samples suitable for pulsed-field gel electrophoresis (PFGE) analysis was set up, and a sample of 110 blood donors was screened. Deletions were found to be frequent, as expected on the basis of previous serological surveys for homozygotes. Furthermore, a number of multigene duplications, never identified before, were detected. The total frequency of individuals bearing rearranged IGHC haplotypes was 10%. The genes involved in these deletions and duplications were assessed by densitometric analysis of standard Southern blots hybridized with several IGHC probes; two types of deletion and two types of duplication could thus be characterized. These data provide further evidence of the instability of the IGHC locus and demonstrate that unequal crossing-over is the most likely origin of rearranged IGHC haplotypes; they also suggest that such recombination events may be relatively frequent. Moreover, the simplicity and effectiveness of the large-scale PFGE screening approach will be of great help in the study of multigene families and of other loci involved in aberrant recombinations.

Chromosome Deletion↗