Complete Duplication Research Articles

Persistent Levoatriocardinal Vein in Association with Complete Duplication of SVC and IVC

AbstractPersistent levoatriocardinal vein (LACV) is a rare pulmonary venous anomaly characterized by persistence of embryonic pulmonary to systemic communication. It is commonly associated with obstructive lesions of the left heart, such as hypoplastic left heart syndrome and mitral atresia. Complete duplication of the superior vena cava (SVC) and inferior vena cava (IVC) is rare, and occurs due to aberrations in the multistep development of the cardinal venous system. Coexistence of double SVC and IVC has been reported in the literature; however, their occurrence with persistent levoatriocardinal vein is hitherto unreported. The current case describes a rare coexistence of these complex pulmonary and systemic venous anomalies: persistent levoatriocardinal vein in a child with double SVC and IVC. The embryological development and possible aberrations leading to these anomalies are also detailed.

Bilateral duplex kidney and ureter with multiple stones: a case report

BackgroundBilateral duplicated kidney and ureter is a rare condition in urology, and it is even rarer for patients to have multiple stones simultaneously. We delineate the diagnostic and therapeutic trajectory of a patient presenting with bilateral duplex kidneys and ureters, characterized by the presence of multiple stones. Notably, the left kidney is a complete duplication, whereas the right kidney exhibits an incomplete duplication.Case presentationA 47-year-old male patient was diagnosed with bilateral duplex kidney and ureter combined with multiple stones. Ureteral flexible lithotripsy and percutaneous nephrolithotomy were performed successively in our hospital. On the postoperative five day, he was discharged from the hospital without apparent discomfort.The double J tube was pulled out one month later, and no stone recurrence was found after 3 months of follow-up.ConclusionsBilateral duplicated renal ureteral malformations combined with multiple stones are very rare. Stones can be removed by ureteroscopic lithotripsy or percutaneous nephrolithotripsy and sometimes multiple procedures are required, which should be chosen according to the patient’s relevant condition.

Surgical management of 12-year-old with complete septate uterus with duplicated cervices and obstructed left hemivagina: A case report

Introduction: When a patient with an obstructed hemivagina presents in childhood, either hormonal suppression or a staged procedure is proposed for management of the obstruction. Case Report: This case report is a 12-year-old patient presenting for evaluation of hematocolpos with a complete septate uterus, duplicate cervices, bilateral kidneys, and obstructed left hemivagina who was surgically managed with a complete vaginal septum resection and hysteroscopic metroplasty in one procedure shortly after diagnosis. Conclusion: This anomaly is not only rare, and the first presented in the literature, but it also importantly demonstrates that if desired by the family after a consideration of benefits and risks, resection of both vaginal and uterine septa can be safely performed in a young post-menarchal patient without the need for a staged procedure later in life.

Asymptomatic Unilateral Duplex Collecting System with Complete Duplication of Ureters in Right Kidney: A Three-dimensional Computed Tomography Scan Findings

Asymptomatic Unilateral Duplex Collecting System with Complete Duplication of Ureters in Right Kidney: A Three-dimensional Computed Tomography Scan Findings

A real and rare type of complete portal vein duplication: a case description and literature analysis.

A real and rare type of complete portal vein duplication: a case description and literature analysis.

One Trocar-Assisted Retroperitoneoscopic Ureteroureterostomy for Ureteral Duplication.

Aim: To describe the operative technique and outcome of one trocar-assisted retroperitoneoscopic ureteroureterostomy (OTAU) in 40 cases of complete ureteral duplication in children. Patients and Methods: From September 2016 to December 2020, 40 patients (12 male and 28 female) less than 10 years of age underwent OTAU. A transverse skin incision of 12 mm in length was created approximately 1 cm above the iliac crest. Muscle was spared and retracted with stay sutures to expose the retroperitoneal space. Subsequently, a balloon trocar was then inserted, and pneumoperitoneum was achieved. A 10 mm operating laparoscope (Stema, Germany) with a Maryland was used to dissect and isolate the ureters from surrounding tissues. The ureters were then exteriorized and end-to-side ureteroureterostomy was performed using Polydioxanone (PDS) 6/0 running sutures. Patient's demographic, operative, and follow-up data were collected prospectively. Results: The mean age of patients was 25.2 months (range: 1-105 months). The mean operating time was 81.9 ± 11.3 minutes. There were no intraoperative conversions or complications. After a median follow-up time of 47.5 months, the differential renal function of the pathological upper pole moiety (UPM) was preserved in all patients. Ultrasound revealed a significant reduction in UPM's renal pelvis anterior-posterior diameter from 19.6 ± 9.1 mm preoperatively to 11.1 ± 6.7 mm postoperatively (p < 0.05), accompanied by a reduction in ureter's diameter from 10.8 ± 4.4 mm to 4.8 ± 1.2 mm (p < 0.05). Overall, all 32 patients with preoperative symptoms experienced complete symptom resolution. Conclusion: OTAU is a safe and feasible approach that yields excellent outcomes for complete ureteral duplication.

Unilateral complete ureteral duplication with ectopic ureteral opening inserting into urethra in a female patient without incontinence: a case description and review of the literature.

Unilateral complete ureteral duplication with ectopic ureteral opening inserting into urethra in a female patient without incontinence: a case description and review of the literature.

Replication fork barriers to study site-specific DNA replication perturbation

DNA replication ensures the complete and accurate duplication of the genome. The traditional approach to analysing perturbation of DNA replication is to use chemical inhibitors, such as hydroxyurea or aphidicolin, that slow or stall replication fork progression throughout the genome. An alternative approach is to perturb replication at a single site in the genome that permits a more forensic investigation of the cellular response to the stalling or disruption of a replication fork. This has been achieved in several organisms using different systems that share the common feature of utilizing the high affinity binding of a protein to a defined DNA sequence that is integrated into a specific locus in the host genome. Protein-mediated replication fork blocking systems of this sort have proven very valuable in defining how cells cope with encountering a barrier to fork progression. In this review, we compare protein-based replication fork barrier systems from different organisms that have been developed to generate site-specific replication fork perturbation.

Duplicated Heschl's gyrus associations with phonological decoding.

The reason(s) for why a complete duplication of the left hemisphere Heschl's gyrus (HG) has been observed in people with reading disability are unclear. This study was designed to replicate and advance understanding of the HG and phonological decoding association, as well as test competing hypotheses that this HG duplication association is specifically localized to the HG or could be due to co-occurring atypical development of other brain regions that support reading and language development. Participants were selected on the basis of having a duplicated left hemisphere HG (N = 96) or a single HG (N = 96) and matched according to age, sex, and research site in this multi-site study. Duplicated and single HG morphology specific templates were created to determine the extent to which HG sizes were related to phonological decoding within each HG morphology group. The duplicated HG group had significantly lower phonological decoding (F = 4.48, p = 0.04) but not verbal IQ (F = 1.39, p = 0.41) compared to the single HG group. In addition, larger HG were significantly associated with lower phonological decoding in the duplicated HG group, with effects driven by the size of the lateral HG after controlling for age, sex, research site, and handedness (ps < 0.05). Brain regions that exhibited structural covariance with HG did not clearly explain the HG and phonological decoding associations. Together, the results suggest that presence of a duplicated HG indicates some risk for lower phonological decoding ability compared to verbal IQ, but the reason(s) for this association remain unclear.

Bilateral Complete Ureteral Duplication with Obstructing Stones in Both Left Ureters: A Case Report and a Review of Literature

Congenital anomalies like duplex renal collecting systems are rare developmental conditions. Among these anomalies, ureteral duplication is rarely observed, with partial ureteral duplication comprising a majority of cases. Bilateral ureteral complete duplication, where fully duplicated ureters drain separately into the bladder via separate orifices, is extremely rare, making it a seldom-documented anomaly in the medical literature. A case of bilateral complete ureteral duplication complicated by calculi in both the upper and lower moieties of the left kidney presented to the urology outpatient department with complaints of left flank pain for one month. His computed tomography-urogram revealed complete duplication of bilateral collecting systems with bilateral double ureters with an 8.2×5.9 mm2 sized stone in the pelvi-ureteric junction of the left upper moiety and 11.9×5.6 mm2 sized stone in the proximal ureter of left lower moiety causing hydronephrosis of both upper and lower moiety pelvicalyceal system. Calculi in both the upper and lower moieties were cleared in a single setting using a Ureteroscopic Lithotripsy. Duplex renal systems, while often asymptomatic, are linked to a higher occurrence of treatable conditions like stones and renal reflux diseases. The duplicated structure may lead to stagnant urine, causing obstructions and consequently infections. Stones that obstruct the ureter for a prolonged period can cause renal impairment and require active intervention. Currently, flexible or semirigid ureteroscopy with laser lithotripsy is the standard procedure. Even in this case, both stones were effectively managed in a single session using a standard procedure.

Clinical case of complete duplication of the right kidney in combination with non-refluxing megaureter of the upper and hydronephrosis of the lower segments

Clinical case of complete duplication of the right kidney in combination with non-refluxing megaureter of the upper and hydronephrosis of the lower segments

Comparative analysis of laparoscopic and open ureteroureterostomy for the treatment of pediatric duplicated kidneys: a clinical efficacy and safety study.

Duplicated kidneys, though rare, are common in pediatric urinary issues. For children with complete kidney duplication and symptoms or complications, surgery is often needed. Ureteroureterostomy (UU) is a common procedure for this condition. This study aims to evaluate and compare the clinical efficacy and safety of laparoscopic ureteroureterostomy (LUU) and open ureteroureterostomy (OUU) in the treatment of pediatric duplicated kidneys. A retrospective study at Children's Hospital of Anhui Province from February 2017 to January 2023 included pediatric patients who underwent LUU or OUU for completely duplicated kidneys. Comparative measures included operative time, postoperative hospital stay, intraoperative blood loss, pre- and postoperative renal pelvis anteroposterior diameter, pre- and postoperative upper renal parenchymal thickness, pre- and postoperative upper ureteral diameter, and postoperative complications. There are 30 patients, 20 in the LUU group and 10 in the OUU group. All patients underwent surgery successfully, with no conversions to open surgery in the LUU group. Comparison between the LUU group (average age 3.7±3.4 years) and the OUU group (average age 1.6±1.3 years) showed that laparoscopic surgery had a mean duration of 178.8±60.71 min, intraoperative blood loss of 4.3±0.92 mL, drainage tube removal time of 1.8±0.6 days, and postoperative hospital stay of 4.2±2.2 days. In contrast, the OUU group had a mean surgery duration of 181.6±37.8 min, drainage tube removal time of 2.3±0.7 days, intraoperative blood loss of 6.4±4.06 mL, and postoperative hospital stay of 5.8±1.8 days. Although the LUU group had a shorter surgical duration, the difference was not statistically significant. However, intraoperative blood loss, drainage tube removal time, and postoperative hospital stay were significantly reduced in the LUU group, with statistical significance (P<0.05). After surgery, one case of urinary tract infection occurred in each group. Both groups had double-J stents placed postoperatively, which were removed cystoscopically 4-6 weeks later. Preoperative examinations showed no significant differences between the LUU and OUU groups in terms of upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness. However, in terms of postoperative recovery indicators, the LUU group outperformed the OUU group significantly, including upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness, with statistical significance (P<0.05). No hydronephrosis or worsening hydronephrosis was observed in the lower kidneys and ureters of the 30 patients postoperatively. Symptoms disappeared in patients with preoperative dribbling, and pain symptoms in the waist and abdomen relieved. No postoperative febrile urinary tract infections were observed. UU is an effective and safe method for treating pediatric completely duplicated kidneys. Compared to open surgery, laparoscopic surgery is associated with less trauma, faster postoperative recovery, and superior postoperative recovery of anatomical parameters (anteroposterior diameter, ureteral diameter, and parenchymal thickness) of the upper kidneys.

Partial facial duplication (diprosopus): a case report and review of the literature

BackgroundDiprosopus, or craniofacial duplication, is a rare entity that occurs in approximately 1 in 180,000 to 15 million live births. The degree of duplication varies from complete facial duplication to small facial structure duplication like the nose and eye. The cause of diprosopus is unknown though there are proposed factors.Case presentationOur African patient was a term 72 hours old female neonate who was referred to our center with impression of lower facial duplication with two oral cavity that are located side to side separated by large soft tissue, she also had flat nasal bridge with widely separated nostrils and widely spaced eyes. Besides the facial malformation she had multiple episodes of vomiting with aspiration. Her blood tests were normal. Precontract brain computed tomography (CT) scan confirmed partially duplicated mandible and maxilla, two oral cavity separated by large fatty tissue, brain tissue were well formed and the only abnormality was corpus callosum agenesis and interhemispheric lipoma. In her stay at hospital nasogastric tube (NG) tube feed was initiated and started with antibiotics for aspiration pneumonia. After 25th day the neonatal passed away with possible cause of death being respiratory failure.ConclusionCraniofacial duplication is a very rare anomaly with only a few cases reported. Most of these patients are stillborn, even if they survive the prognosis is often poor. Early prenatal diagnosis is very important as termination of pregnancy can sometimes be considered an option.

Abducens Nerve Duplication: Novel Intraoperative and Radiographic Observation of a Rare Anatomical Variant

Abstract Objectives The abducens nerve has a long, serpentine subarachnoid course with complex topographical relationships, rendering abducens nerve palsy the most common ocular motor cranial nerve palsy in adults and second most common in pediatric patients, with anatomical variants reported in the literature. Preoperative awareness of abducens nerve variant anatomy may help prevent inadvertent intraoperative injury. Design This study is a case report with a review of the abducens nerve anatomy and variants. Setting The study setting included outpatient, inpatient, and operating room in the neurosurgery department of a quaternary referral center. Participants The study included a woman in her early 30s with a diagnosis of petrous meningioma. Main Outcome Measures In vivo documentation of a type 3 abducens nerve duplication was carried out. Results A left extended retrosigmoid craniotomy was recommended for the petroclival meningioma resection. Intraoperatively, a complete duplication of the left abducens cisternal segment was encountered and photographed. The left unilateral abducens nerve duplication was confirmed with postoperative volumetric magnetic resonance imaging using the FIESTA (fast imaging employing steady-state acquisition) sequence, revealing the union of the duplicated cisternal abducens nerves into a single trunk from Dorello's canal distally. Conclusions Abducens nerve variants are uncommon, and although reported in the setting of cadaveric dissection, in vivo documentation of them is limited. This case report of an in vivo type 3 abducens nerve duplication with intraoperative photographic and radiographic images highlights the need for clinical awareness to avoid inadvertent intraoperative injury.

Caudal duplication syndrome: a rare entity

The rare caudal duplication syndrome is a spectrum of anomalies primarily involving partial or complete duplication of organs comprising the gastrointestinal, genitourinary and distal neural tube systems. These findings are considered to be a result of aberrant embryogenesis. We hereby report a case of an adult female with complete duplication of the genital and urinary systems (urethra and bladder), hindgut and lower end of vertebral column with no functional impairment. She presented in her first pregnancy at 36 weeks gestation, in labour. To the author's knowledge this is the first case of caudal duplication syndrome with pregnancy from Pakistan. Key Words: Caudal duplication, Genitourinary, Gestation, Hindgut.

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.

Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecular genetic testing for the FBN1 gene, like Sanger sequencing, may miss disease-causing mutations in the gene's regulatory regions or non-coding sequences, as well as partial or complete gene deletions and duplications. Next-generation sequencing, multiplex ligation-dependent probe amplification and gap PCR were conducted on two MFS patients to screen for disease-causing mutations. We identified two large deletions in FBN1 from two MFS patients. One patient had a 0.23 Mb deletion (NC_000015.9:g.48550506_48779360del) including 5'UTR-exon6 of FBN1. The other patient harbored a 1416 bp deletion (NC_000015.9:g.48410869_48412284del) affecting the last exon, exon 66, of the FBN1 gene. Our results expanded the number of large FBN1 deletions and highlighted the importance of screening for large deletions in FBN1 in clinical genetic testing, especially for those with the classic MFS phenotype.

Surgical Challenges of Bilateral Duplex Kidney with Ectopic Ureters

Abstract The bilateral duplex system is extremely uncommon, and only a few cases have been documented in the literature. It may manifest as a bifid renal pelvis and partial or complete ureteric duplication, with or without ectopic insertion of the ureter. An ectopic ureter is more problematic when there is significant vesicoureteral reflux, incontinence, and/or blockage. The optimal course of treatment is considered to be ureteral reimplantation rather than heminephrectomy. We describe the management strategy for a case of bilateral duplex kidneys with bilateral ectopic ureters in a growing female child.

Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes.

Factor IX (FIX) plays a critical role in blood coagulation. Complete deletion of F9 results in severe hemophilia B, whereas the clinical implications of complete F9 duplication and triplication remain understudied. To investigate the rearrangement mechanisms underlying complete F9 deletion (cases 1 and 2), duplication (cases 3 and 4), and triplication (case 5), and to explore their association with FIX expression levels and clinical impacts. Plasma FIX levels were detected using antigen and activity assays. CNVplex technology, optical genome mapping, and long-distance polymerase chain reaction were employed to characterize the breakpoints of the chromosomal rearrangements. Cases 1 and 2 exhibited FIX activities below 1%. Case 3 displayed FIX activities within the reference range. However, cases 4 and 5 showed a significant increase in FIX activities. Alu-mediated nonallelic homologous recombination was identified as the cause of F9 deletion in case 1; FoSTeS/MMBIR (Fork Stalling and Template Switching/microhomology-mediated break-induced replication) contributed to both F9 deletion and tandem duplication observed in cases 2 and 3; BIR/MMBIR (break-induced replication/microhomology-mediated break-induced replication) mediated by the same pair of low-copy repeats results in similar duplication-triplication/inversion-duplication (DUP-TRP/INV-DUP) rearrangements in cases 4 and 5, leading to complete F9 duplication and triplication, respectively. Large deletions involving the F9 gene exhibit no apparent pattern, and the extra-hematologic clinical phenotypes require careful analysis of other genes within the deletion. The impact of complete F9 duplication and triplication on FIX expression might depend on the integrity of the F9 upstream sequence and the specific rearrangement mechanisms. Notably, DUP-TRP/INV-DUP rearrangements significantly elevate FIX activity and are closely associated with thrombotic phenotypes.

5p15 Duplication: Clinical Features in a Preterm Infant

Trisomy 5p is a rare chromosomal abnormality that results from the partial or complete duplication of chromosome 5. Commonly reported clinical features of Trisomy 5p include congenital heart defects, respiratory failure, seizures, and developmental delay. To date, all reported cases of Trisomy 5p have been school-aged children or adults. We present the first case of an infant who was born preterm with multiple congenital anomalies and subsequently diagnosed with 5p15.1p11 duplication via whole exome sequencing. While our patient shares some of the major features of classic Trisomy 5p, the infant has other clinical features not previously described.

Tetrameric UvrD helicase is located at the E. coli replisome due to frequent replication blocks

DNA replication in all organisms must overcome nucleoprotein blocks to complete genome duplication. Accessory replicative helicases in Escherichia coli, Rep and UvrD, help remove these blocks and aid the re-initiation of replication. Mechanistic details of Rep function have emerged from recent live cell studies; however, the division of UvrD functions between its activities in DNA repair and role as an accessory helicase remain unclear in live cells. By integrating super-resolved single-molecule fluorescence microscopy with biochemical analysis, we find that UvrD self-associates into tetrameric assemblies and, unlike Rep, is not recruited to a specific replisome protein despite being found at approximately 80% of replication forks. Instead, its colocation with forks is likely due to the very high frequency of replication blocks composed of DNA-bound proteins, including RNA polymerase and factors involved in repairing DNA damage. Deleting rep and DNA repair factor genes mutS and uvrA, and inhibiting transcription through RNA polymerase mutation and antibiotic inhibition, indicates that the level of UvrD at the fork is dependent on UvrD’s function. Our findings show that UvrD is recruited to sites of nucleoprotein blocks via different mechanisms to Rep and plays a multi-faceted role in ensuring successful DNA replication.