Ectopic Insertion Research Articles

A Case of Chronic Back Pain: Revealing Complete Ureteral Duplicity in an Adult Woman

Ureteral duplication is a rare congenital anomaly, often diagnosed incidentally, characterized by the presence of two distinct ureters draining a single kidney. This condition can lead to complications such as vesicoureteral reflux or upper pole obstruction, often due to ectopic ureteral insertion or ureterocele. We report the case of a 40-year-old woman presenting with left-sided chronic low-back pain. Imaging studies, including ultrasound and CT urography, revealed bilateral ureteral duplication with significant left ureterohydronephrosis due to dysplasia and ectopic insertion of the upper ureter. Radiological imaging, especially CT urography, is essential for diagnosing ureteral duplication and identifying its complications. Timely imaging and intervention are critical for preserving renal function, with treatment options depending on the extent of renal impairment. These may include partial or total ureteronephrectomy or ureteral reimplantation.

Creating Meiotic Recombination-Regulating DNA Sites by SpEDIT in Fission Yeast Reveals Inefficiencies, Target-Site Duplications, and Ectopic Insertions.

Recombination hotspot-activating DNA sites (e.g., M26, CCAAT, Oligo-C) and their binding proteins (e.g., Atf1-Pcr1 heterodimer; Php2-Php3-Php5 complex, Rst2, Prdm9) regulate the distribution of Spo11 (Rec12)-initiated meiotic recombination. We sought to create 14 different candidate regulatory DNA sites via bp substitutions in the ade6 gene of Schizosaccharomyces pombe. We used a fission yeast-optimized CRISPR-Cas9 system (SpEDIT) and 196 bp-long dsDNA templates with centrally located bp substitutions designed to ablate the genomic PAM site, create specific 15 bp-long DNA sequences, and introduce a stop codon. After co-transformation with a plasmid that encoded both the guide RNA and Cas9 enzyme, about one-third of colonies had a phenotype diagnostic for DNA sequence changes at ade6. PCR diagnostics and DNA sequencing revealed a diverse collection of alterations at the target locus, including: (A) complete or (B) partial template-directed substitutions; (C) non-homologous end joinings; (D) duplications; (E) bp mutations, and (F) insertions of ectopic DNA. We concluded that SpEDIT can be used successfully to generate a diverse collection of DNA sequence elements within a reporter gene of interest. However, its utility is complicated by low efficiency, incomplete template-directed repair events, and undesired alterations to the target locus.

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.

Apical Dominance and Branching in Plantlets of Colt Cherry Lines Expressing Different Light and Auxin Signalling Sensitivities

The establishment of plant architecture requires coordination of distinct processes including shoot branching and apical dominance (AD). AD involves the bud apical shoot, mainly through indole-3-acetic acid (IAA) synthetized by the cells of the meristem and young leaves. The rootward flow generates an auxin gradient in the stem and buds, regulating lateral bud (LB) outgrowth. Phytochromes and AD are involved in the shade-avoidance syndrome in woody plants. However, the underlying mechanisms remain poorly understood. The aim of this study was to evaluate the sensitivity of cherry rootstocks to light, mediated by the photoreceptor phytochrome, and its effect on the role of auxin in driving branching by AD. Pharmacological treatments using transport inhibitors and a competitor of IAA were applied to transgenic lines of Colt cherry rootstock, which showed different sensitivities to light because of the ectopic expression of a rice phyA gene. Results showed different physiological behaviours among the transgenic lines and between themselves and the Colt-wt line. Exogenous IBA inhibited Colt-wt LB outgrowth, and this inhibition was less intense in transgenic lines. The IAA-inhibitors and IAA-competitor promoted branching. In in vitro phyA-transgenic plantlets, the ectopic gene induced greater branching and a higher number of buds developed in new shoots. This work confirms a positive action of phytochrome on lateral branching in cherry rootstock, playing a role in the regulation of AD. Moreover, we suggest that the confined in vitro system might now be used as a phenotyping screening to test the plasticity of the response, highlighting the behaviour of modified genotypes due to an ectopic insertion event by simple and rapid procedures.

Bilateral complete ureteropielocalicial duplicity associated with ectopic ureteral vaginal insertion in childhood: Case report

Ureteral duplication associated with ectopic ureteral insertion is a rare congenital anomaly clinically more common in females. Early urinary incontinence is the main symptom of ureteral ectopy in the first childhood of these patients. Contrast computed tomography and magnetic resonance imaging are the most effective imaging methods to rule out or confirm the diagnosis of ectopy associated with ureteral duplication. In cases where significant surgical functions are performed, the reconstructive surgical approach with reimplantation of the ureteral unit is the technique of choice. We present the case of a 6-year-old female patient who was diagnosed with bilateral complete ureteropielocalicial duplicity confirmed by intravenous pyelography. Confirmation of ureteral ectopy only occurred intraoperatively. The surgical correction consisted in reimplantation of the ectopic ureteral unit in the patient's bladder, since preserved renal functions evidenced in renal scintigraphy with DMSA. After performed the procedure, the patient remained asymptomatic and with normal urinary patterns. For the accomplishment of the present study, we used as data source the patient's medical records, useful for the realization of the clinical history from the diagnosis to the definitive surgical treatment that concluded the case. Ureteral duplication associated with ectopic ureteral insertion should be perfectly understood and had with a possible diagnosis for cases of urinary incontinence and recurrent urinary infections. Investigation through detailed physical examination and the use of appropriate imaging tests may help in the early detection of this rare anomaly of the genitourinary tract.

Zinner’s syndrome: to observe or to operate? a triplet of cases with varying clinical presentation

Zinner's syndrome is a rare condition that can be challenging to diagnose and manage. Limited knowledge about its natural history and optimal treatment further complicates matters. To shed more light on this condition, we present a case series of three patients with Zinner's syndrome, highlighting their clinical presentations, diagnostic workup, and treatment options. Our first patient was a 16-year-old male with left epididymo-orchitis and left renal agenesis. The second patient was a 25-year-old male with left epididymo-orchitis, left seminal vesicle cyst, and left renal agenesis. The third patient was a 65-year-old male with left seminal vesicle cysts and aplastic ectopic renal tissue with ectopic ureteral insertion into the seminal vesicle cyst causing acute urinary retention. The two patients who presented with epididymo-orchitis were managed conservatively while the one presenting with acute urinary retention required surgical exploration and excision. It is noted that diagnosis of Zinner's syndrome requires a high index of suspicion, and radiological imaging is crucial for confirmation. Surgical intervention is often necessary to treat symptomatic compression, and fertility counselling is necessary due to the potential for impaired semen quality. Close monitoring is needed due to the risk of renal impairment in the future.

Obstructed hemivagina and ipsilateral renal agenesis: magnetic resonance imaging findings in young Nepali females - a report of four cases.

The cases presented describe the imaging (ultrasound and MRI) findings of four young females who presented with dysmenorrhea and urinary complaints. All of them had solitary kidneys with a didelphic uterus and unilateral hematometrocolpos. A proximally blind-ending ureter with distal ectopic insertion, transverse vaginal septum, and left-sided endometrioma was seen. OHVIRA syndrome is associated with duplicated uterovaginal structure with OHVIRA. Ultrasound is the first line of investigation; however, MRI better delineates the anatomy and assists in preoperative planning. This report highlights that earlier clinical suspicion and imaging diagnosis of OHVIRA is crucial to prevent adverse outcomes and treating complications.

Identification and characterization of new proteins crucial for bacterial spore resistance and germination.

2Duf, named after the presence of a transmembrane (TM) Duf421 domain and a small Duf1657 domain in its sequence, is likely located in the inner membrane (IM) of spores in some Bacillus species carrying a transposon with an operon termed spoVA 2mob. These spores are known for their extreme resistance to wet heat, and 2Duf is believed to be the primary contributor to this trait. In this study, we found that the absence of YetF or YdfS, both Duf421 domain-containing proteins and found only in wild-type (wt) B. subtilis spores with YetF more abundant, leads to decreased resistance to wet heat and agents that can damage spore core components. The IM phospholipid compositions and core water and calcium-dipicolinic acid levels of YetF-deficient spores are similar to those of wt spores, but the deficiency could be restored by ectopic insertion of yetF, and overexpression of YetF increased wt spore resistance to wet heat. In addition, yetF and ydfS spores have decreased germination rates as individuals and populations with germinant receptor-dependent germinants and increased sensitivity to wet heat during germination, potentially due to damage to IM proteins. These data are consistent with a model in which YetF, YdfS and their homologs modify IM structure to reduce IM permeability and stabilize IM proteins against wet heat damage. Multiple yetF homologs are also present in other spore forming Bacilli and Clostridia, and even some asporogenous Firmicutes, but fewer in asporogenous species. The crystal structure of a YetF tetramer lacking the TM helices has been reported and features two distinct globular subdomains in each monomer. Sequence alignment and structure prediction suggest this fold is likely shared by other Duf421-containing proteins, including 2Duf. We have also identified naturally occurring 2duf homologs in some Bacilli and Clostridia species and in wt Bacillus cereus spores, but not in wt B. subtilis. Notably, the genomic organization around the 2duf gene in most of these species is similar to that in spoVA 2mob, suggesting that one of these species was the source of the genes on this operon in the extremely wet heat resistant spore formers.

V03-06 SINGLE PORT ROBOTIC-ASSISTED TRANSVESICAL EXCISION OF BILATERAL URETEROCELES WITH URETERAL RE-APPROXIMATION

You have accessJournal of UrologyCME1 Apr 2023V03-06 SINGLE PORT ROBOTIC-ASSISTED TRANSVESICAL EXCISION OF BILATERAL URETEROCELES WITH URETERAL RE-APPROXIMATION Labeeqa Khizir, Juliana E. Kim, Alain Kaldany, Sai Krishnaraya Doppalapudi, and Sammy E. Elsamra Labeeqa KhizirLabeeqa Khizir More articles by this author , Juliana E. KimJuliana E. Kim More articles by this author , Alain KaldanyAlain Kaldany More articles by this author , Sai Krishnaraya DoppalapudiSai Krishnaraya Doppalapudi More articles by this author , and Sammy E. ElsamraSammy E. Elsamra More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003241.06AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The patient is a 35-year-old female with prior medical history of recurrent urinary tract infections (UTI), who presented to the emergency department for severe right abdominal pain with difficulty urinating. On physical exam, the patient was found to have a non-tender prolapsed ureterocele per urethra causing transient bladder outlet obstruction. Subsequent MRI of the pelvis showed severe right-sided hydroureter with ectopic insertion of the right ureter at the bladder neck and associated ureterocele, as well as moderate left-sided hydroureter with associated ureterocele. Here, we present a minimally invasive and definitive robotic repair of bilateral ureteroceles. METHODS: The patient was prepped and draped in the usual sterile fashion. An anterior cystotomy measuring approximately 5 cm was made, and the bladder was emptied. A single port robotic access device was then placed directly into the bladder. The patient was placed in a slight Trendelenburg position and the robot was docked. Surgical footage highlights include: bilateral ureterocele excision using electrocautery, creation of a urothelial defect on the right ureter due to excision of the large ureterocele, ureteral re-approximation, and affixation of the ureter. The cystotomy was closed and the bladder was noted to be watertight. RESULTS: Total operative time was 123 minutes. The patient recovered with unremarkable post-operative course and was discharged on same day of surgery. Post-operative imaging showed resolution of symptoms and bilateral hydronephrosis thereafter. CONCLUSIONS: Single-port transvesical approach provided a better vantage point for robotic repair compared to more traditional endoscopic approaches. This approach also allowed for the mucosa to be oversewn easily, mitigating risk of future stricture formation or ureterocele recurrence. In addition, higher insufflation pressure within bladder allowed ureteroceles to be collapsed, yet visible, and aided in excision. In summary, single-port robotic-assisted transvesical excision with ureteral re-approximation allowed for minimally invasive and definitive repair of bilateral ureteroceles. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e247 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Labeeqa Khizir More articles by this author Juliana E. Kim More articles by this author Alain Kaldany More articles by this author Sai Krishnaraya Doppalapudi More articles by this author Sammy E. Elsamra More articles by this author Expand All Advertisement PDF downloadLoading ...

Multiple vaginal stones secondary to an ectopic ureter in an adult female patient: a case report

Vaginal stone is a rare case with low incidence. Ectopic ureter insertion into the vagina is one of the congenital abnormalities that may lead to vaginal stone formation. True incontinence persisting until adulthood might indicate an ectopic ureter, often associated with a complete duplex renal system. We reported an adult female that came with a chief complaint of true incontinence since she was young. However, it was left untreated due to limited healthcare facilities in her area and low socioeconomic status. The computed tomography examination revealed a right complete duplex renal system, with upper moiety inserted into the vagina, and multiple vaginal stones. Thus, stone removal and ureteroneocystostomy procedure were performed. No further complaints or complications were recorded after the hospital discharge.

Release-reinsertion of the biceps femoris tendon onto the fibula in biceps femoris impingement on the knee with or without snap

Ectopic insertions of the biceps femoris tendon at the knee can cause impingement with the fibular head, leading to pain with or without snap. There are several variant insertions that have recently been described and classified. Pain syndrome primarily affects athletic patients, often cyclists, disrupting sports practice. Diagnosis is difficult and often late. Medical treatment is often disappointing, leading to surgery. The aim of surgery is to remove the impingement between the ectopic insertion of the biceps tendon and the fibular head, by releasing the unduly anterior tendon, sometimes from the tibia and reinserting it in an anteroposterior tunnel in the fibular head. This reinsertion in a physiological zone without impingement is then fixed by an interference screw.

Development of a gene-targeting system using CRISPR/Cas9 and utilization of pyrG as a novel selectable marker in Lentinula edodes.

First, we attempted to recombine the Shiitake (Lentinula edodes) pyrG (ura3) gene homologously by introducing a donor vector containing a carboxin resistance gene (lecbxR) flanked by homologous sequences of pyrG into protoplasts of the fungus. However, all the carboxin-resistant transformants only contained ectopic insertions of the exogenous gene and no homologous insertions. Agaricomycetes are generally known for their low efficiency of homologous recombination, and a similar result was shown for L. edodes. We then co-introduced a Cas9 plasmid vector containing a CRISPR/Cas9 expression cassette targeting pyrG and donor plasmid vector. As a result, ∆pyrG strains containing the expected homologous recombination were obtained. However, only two of the seven ∆pyrG strains had the Cas9 sequence; the others did not. Our results suggest that genome editing occurred via the transient expression of the CRISPR/Cas9 cassette in the Cas9 plasmid vector introduced into the fungal cell. Transforming pyrG into a ∆pyrG strain (strain I8) resulted in prototrophic strains with an efficiency of 6.5 strains/experiment.

A rare case of unilateral ectopic insertion of ureter into the prostatic urethra demonstrated by 4D CT urography

A rare case of unilateral ectopic insertion of ureter into the prostatic urethra demonstrated by 4D CT urography

Unusual presentation of duplex kidney with poor functioning upper moiety in an adult patient a case report

Renal duplexing (also known as a duplicate collection system) occurs in about 1% of children and does not usually require medical attention. The condition results in two tubes rather than the normal single ureter tube for each kidney. Medical problems that warrant attention are obstruction of urine flow or the backflow of urine into the kidney (reflux). These double ureter tubes can join in a "y" shape before reaching the bladder (partial duplex) and combining their urine delivery. In other cases, each duplicate ureter empties into the bladder on its own (complete duplex). There is cause for concern when a duplex kidney is associated with urological conditions requiring treatment. Renal duplexing can cause urine to reflux into the kidney (vesicoureteral reflux) rather than going into the bladder and can cause subsequent Urinary Tract Infection (UTI). This can result in serious consequences like the loss of renal parenchyma (reflux nephropathy) and sometimes death in acute infections if not attended to in a timely manner. Weigert-Meyer postulated that rule i-e in a complete duplex system is mostly associated with reflux in lower moiety and obstruction in upper moiety with ectopic insertion and ureterocele. Ureteroceles may require simple management of symptoms or surgery, depending on the size of the ballooning, the functioning of the kidney and bladder and the degree of urine obstruction. An ectopic ureter is when the ureter opens and drains urine outside the bladder rather than inside.

Bilateral complete duplication of ureters with upper moiety PUJO and ectopic insertion: A rare case report

Duplication of the ureter and renal pelvis is one of the most common anomalies of the upper tracts with incidence reported to be approximately 2% [1]. An increased incidence of uretero-renal pathology has been documented with duplication anomalies. Here we present a case report of a 27-year-old married male who presented with a bilateral complete duplex system with ectopic insertion into the prostatic urethra. On evaluation he was found to have a non-functioning left upper moiety and a right upper moiety ureteropelvic junction obstruction. In this case report we discuss the complications and therapeutic implications of a duplicated system.

Pleiotropic roles of N-glycans for enzyme activities and stabilities of MIPC synthases, Csh1 and Sur1/Csg1, in Saccharomyces cerevisiae.

Mannosyl phosphorylceramide (MIPC) is a membrane lipid classified as a complex sphingolipid in Saccharomyces cerevisiae. MIPC is synthesized by 2 redundant enzymes, Sur1/Csg1 and Csh1, in the Golgi lumen. MIPC consists of 5 subtypes (A, B', B, C, and D-type) according to the position and number of hydroxyl groups on the ceramide moiety. Sur1 exerts higher impact on synthesis of MIPC-B and MIPC-C than Csh1. In this study, we elucidated the roles played by N-glycans attached to Sur1 and Csh1, and dissected the mechanisms underlying substrate recognition by these 2 enzymes. Sur1 carries an N-glycan on Asn-224, whereas Csh1 has N-glycans on Asn-51 and Asn-247. Although intracellular proteins usually harbor core-type N-glycans, the N-glycan on Asn-51 of Csh1 exhibited a unique mannan-like structure containing a long backbone of mannose. Sur1 N224Q and Csh1 N51Q mutants exhibited a decrease in the activity to synthesize specific MIPC subtypes for each enzyme, suggesting that these N-glycans play a role in substrate recognition through their catalytic domains. Moreover, ectopic insertion of an N-glycosylation consensus sequence (NST) at codon 51 of Sur1 (Sur1-NST51) resulted in an artificial modification with mannan, which markedly decreased protein stability. Our results suggest that the diminished stability of the Sur1-NST51 mutant protein could be attributable to potential structural alterations by the mannan. Collectively, the present study reveals essential luminal domains of Sur1 and Csh1 that dictate substrate specificity and/or the protein stabilities via mannan modification.

Laparoscopic Nephroureterectomy for Dysplastic Kidneys with Ectopic Ureters Opening Inside the Vagina

Urinary incontinence in girls could be due to ectopic ureteral insertion inside the vagina, a condition that is difficult to diagnose. In these patients, the urinary tract may be duplicated or single and be associated with a dysplastic kidney. We report two girls with dribbling of urine due to single ectopic ureteral insertion into the vagina. Computerised tomography urogram, retrograde contrast study and isotope scan revealed poorly functioning ectopic kidney. Hence, both patients underwent laparoscopic nephroureterectomy which led to the resolution of symptoms.

Building a Versatile Protein Production Platform Using Engineered Trichoderma reesei.

Trichoderma reesei has an extremely high capacity for synthesizing and secreting proteins, thus exhibiting promise as an expression platform for heterologous proteins. However, T. reesei secretes large amounts of native proteins, which hinders its widespread application for heterologous protein production. Here, we designed and built a series of T. reesei chassis using an iterative gene deletion approach based on an efficient genome editing system. Donor DNAs with specially designed construct facilitated screening of positive deletion strains without ectopic insertion. Finally, marker-free T. reesei chassis with lower rates of native protein secretion and low levels of extracellular protease activity were constructed after 11 consecutive rounds of gene deletion. Higher production levels of three heterologous proteins─a bacterial xylanase XYL7, a fungal immunomodulatory protein LZ8, and the human serum albumin HSA─were achieved with these chassis using the cbh1 promoter. It is possible that diverse high-value proteins might be produced at a high yield using this engineered platform.

Delineation of the Ancestral Tus-Dependent Replication Fork Trap.

In Escherichia coli, DNA replication termination is orchestrated by two clusters of Ter sites forming a DNA replication fork trap when bound by Tus proteins. The formation of a ‘locked’ Tus–Ter complex is essential for halting incoming DNA replication forks. However, the absence of replication fork arrest at some Ter sites raised questions about their significance. In this study, we examined the genome-wide distribution of Tus and found that only the six innermost Ter sites (TerA–E and G) were significantly bound by Tus. We also found that a single ectopic insertion of TerB in its non-permissive orientation could not be achieved, advocating against a need for ‘back-up’ Ter sites. Finally, examination of the genomes of a variety of Enterobacterales revealed a new replication fork trap architecture mostly found outside the Enterobacteriaceae family. Taken together, our data enabled the delineation of a narrow ancestral Tus-dependent DNA replication fork trap consisting of only two Ter sites.

Sequence Diversity, Locus Structure, and Evolutionary History of the SpTransformer Genes in the Sea Urchin Genome.

The generation of large immune gene families is often driven by evolutionary pressure exerted on host genomes by their pathogens, which has been described as the immunological arms race. The SpTransformer (SpTrf) gene family from the California purple sea urchin, Strongylocentrotus purpuratus, is upregulated upon immune challenge and encodes the SpTrf proteins that interact with pathogens during an immune response. Native SpTrf proteins bind both bacteria and yeast, and augment phagocytosis of a marine Vibrio, while a recombinant SpTrf protein (rSpTrf-E1) binds a subset of pathogens and a range of pathogen associated molecular patterns. In the sequenced sea urchin genome, there are four SpTrf gene clusters for a total of 17 genes. Here, we report an in-depth analysis of these genes to understand the sequence complexities of this family, its genomic structure, and to derive a putative evolutionary history for the formation of the gene clusters. We report a detailed characterization of gene structure including the intron type and UTRs with conserved transcriptional start sites, the start codon and multiple stop codons, and locations of polyadenylation signals. Phylogenetic and percent mismatch analyses of the genes and the intergenic regions allowed us to predict the last common ancestral SpTrf gene and a theoretical evolutionary history of the gene family. The appearance of the gene clusters from the theoretical ancestral gene may have been driven by multiple duplication and deletion events of regions containing SpTrf genes. Duplications and ectopic insertion events, indels, and point mutations in the exons likely resulted in the extant genes and family structure. This theoretical evolutionary history is consistent with the involvement of these genes in the arms race in responses to pathogens and suggests that the diversification of these genes and their encoded proteins have been selected for based on the survival benefits of pathogen binding and host protection.