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https://read.qxmd.com/read/33462046/a-wide-spectrum-of-rare-clinical-variants-of-zinner-syndrome
#1
Harkirat Singh Talwar, Ankur Mittal, Tushar Aditya Narain, Vikas Kumar Panwar
Congenital malformations of the seminal vesicles (SVs) are rare and are associated with abnormalities of the ipsilateral urinary tracts as embryologically both the ureteral buds and SVs arise from the mesonephric ducts. The triad of SV cysts, ipsilateral renal agenesis and ejaculatory duct obstruction is known as the Zinner syndrome. We, herein, present three very rare presentations of Zinner syndrome. Case 1 presented with haematuria, and was found to have a large SV cyst with stones and underwent a robotic cyst excision...
January 18, 2021: BMJ Case Reports
https://read.qxmd.com/read/33448012/prenatal-diagnosis-of-glutaric-acidemia-type-2-with-the-use-of-exome-sequencing-an-up-to-date-review-and-new-case-report
#2
Anna M Kucińska-Chahwan, Tomasz Roszkowski, Maciej Geremek, Magdalena A Paczkowska, Michał Ciebiera, Julia Bijok, Diana Massalska, Grzegorz Panek, Krzysztof Siemion, Beata A Nowakowska
INTRODUCTION: Inborn errors of metabolism (IEM) also called metabolic diseases constitute a large and heterogenous group of disorders characterized by a failure of essential cellular functions. Antenatal manifestation of IEM is absent or nonspecific, which makes prenatal diagnosis challenging. Glutaric acidemia type 2 (GA2) is a rare metabolic disease clinically manifested in three different ways: neonatal-onset with congenital anomalies, neonatal-onset without congenital anomalies and late-onset...
January 15, 2021: Ginekologia Polska
https://read.qxmd.com/read/33287893/recurrent-obstructive-uropathy-secondary-to-pyometrocolpos-in-an-8-month-old-infant-a-case-report
#3
Richard Kiritta, Georgina Balyorugulu, Maimuna Ahmed, Frank Christopher, Andrea Solnes Miltenburg, Albert Kihunrwa
BACKGROUND: Pyometrocolpos is accumulation of infected fluid in the uterus and vagina. It is rare in children, mostly seen after menarche as a result of obstructive congenital genital malformation that impairs free drainage of the uterine secretions. In a child, it may present as an acute illness that necessitates urgent and appropriate management and treatment of the underlying cause, which can be a challenge in a resource-limited setting. CASE PRESENTATION: We report a case of pyometrocolpos in an 8-month-old African infant who presented with fever, vomiting, decreased urine output, and abdominal distension of 12 days' duration...
December 7, 2020: Journal of Medical Case Reports
https://read.qxmd.com/read/33273782/contrast-enhanced-voiding-urosonography-cevus-as-a-novel-technique-for-evaluation-in-a-case-of-male-urethral-diverticulum
#4
Shabnam Bhandari Grover, Sayantan Patra, Hemal Grover, Anup Kumar
Male urethral diverticulum is an uncommon entity, the abnormality being more frequently encountered in females. The pathology may be congenital or acquired and the more frequent acquired type usually occurs following trauma. Afflicted patients usually lack specific symptoms, although in a few instances, symptoms of lower urinary tract obstruction, calculi, or infection may prevail. Imaging investigations utilizing a composite Retrograde urethrography (RGU)- Voiding cystourethrography (VCUG) protocol are accepted as standard approach and ultrasound is considered a secondary supplementary investigation...
July 2020: Indian Journal of Radiology & Imaging
https://read.qxmd.com/read/33269965/partial-urethral-duplication-in-a-cat
#5
Ashley M Power, Daniel L Frem, Danielle Thomas
CASE DESCRIPTION: A 3-year-old neutered male domestic shorthair cat with a history of urethral obstruction was evaluated at a veterinary referral center for acute onset of hunched posture and signs of discomfort on being handled. No evidence of urethral obstruction was found; signs initially responded to medical management, but the cat was presented to the primary care veterinarian < 48 hours after the initial examination with signs suggesting urethral obstruction. CLINICAL FINDINGS: No urinary calculi were detected radiographically...
December 15, 2020: Journal of the American Veterinary Medical Association
https://read.qxmd.com/read/33214068/contractile-function-of-detrusor-smooth-muscle-from-children-with-posterior-urethral-valves-the-role-of-fibrosis
#6
Navroop Johal, Kevin Cao, Callum Arthurs, Michael Millar, Christopher Thrasivoulou, Aamir Ahmed, Rita I Jabr, Dan Wood, Peter Cuckow, Christopher H Fry
INTRODUCTION: Posterior urethral valves (PUV) is the most common cause of congenital bladder outflow obstruction with persistent lower urinary tract and renal morbidities. There is a spectrum of functional bladder disorders ranging from hypertonia to bladder underactivity, but the aetiology of these clinical conditions remains unclear. AIMS AND OBJECTIVES: We tested the hypothesis that replacement of detrusor muscle with non-muscle cells and excessive deposition of connective tissue is an important factor in bladder dysfunction with PUV...
November 4, 2020: Journal of Pediatric Urology
https://read.qxmd.com/read/33168884/renal-developmental-genes-are-differentially-regulated-after-unilateral-ureteral-obstruction-in-neonatal-and-adult-mice
#7
Melanie J Kubik, Maja Wyczanska, Mojca Gasparitsch, Ursula Keller, Stefanie Weber, Franz Schaefer, Bärbel Lange-Sperandio
Congenital obstructive nephropathy hinders normal kidney development. The severity and the duration of obstruction determine the compensatory growth of the contralateral, intact opposite kidney. We investigated the regulation of renal developmental genes, that are relevant in congenital anomalies of the kidney and urinary tract (CAKUT) in obstructed and contralateral (intact opposite) kidneys after unilateral ureteral obstruction (UUO) in neonatal and adult mice. Newborn and adult mice were subjected to complete UUO or sham-operation, and were sacrificed 1, 5, 12 and 19 days later...
November 9, 2020: Scientific Reports
https://read.qxmd.com/read/33166705/-prenatal-path-of-care-following-the-diagnosis-of-a-malformation-for-which-a-novel-prenatal-therapy-is-available
#8
S Hautier, E Kermorvant, N Khen-Dunlop, D de Wailly, B Beauquier, R Corroenne, G Milani, D Bonnet, S James, N Vinit, T Blanc, Y Aigrain, C Colmant, L Salomon, Y Ville, J Stirnemann
OBJECTIVES: Fetal therapy is part of the available care offer for several severe malformations. The place of these emergent prenatal interventions in the prenatal path of care is poorly known. The objective of this study is to describe the decision-making process of patients facing the option of an emergent in utero intervention. METHODS: We have conducted a retrospective monocentric descriptive study in the department of maternal-fetal medicine of Necker Hospital...
November 6, 2020: Gynecologie, Obstetrique, Fertilite & Senologie
https://read.qxmd.com/read/33139211/can-serum-neutrophil-gelatinase-associated-lipocalin-and-kidney-injury-molecule-1-help-in-decision-making-for-surgery-in-antenatally-dedected-hydronephrosis
#9
Doğakan Yiğit, Hakan Taşkınlar, Dinçer Avlan
INTRODUCTION: Congenital obstructive uropathies are among leading reasons for renal failure in children. Answers to questions such as what the critical threshold of obstruction is or which degree of obstruction disrupts the development of the kidney still remain unclear. Several biomarkers such as Kidney Injury Molecule 1 (KIM-1) and Neutrophil Gelatinase Associated Lipocalin (NGAL) may help clinicians in the clinical evaluation and appropriate planning of the disease. OBJECTIVE: This study aimed to investigate whether serum and urinary KIM-1 and NGAL levels contribute to conventional methods in decision-making for surgery in the postnatal period of infants with antenatal hydronephrosis...
October 16, 2020: Journal of Pediatric Urology
https://read.qxmd.com/read/33117862/delayed-presentation-of-urethral-valves-a-diagnosis-that-should-be-suspected-despite-a-normal-prenatal-ultrasound
#10
Lisa B E Shields, Jeffrey T White, Ahmad Z Mohamed, Dennis S Peppas, Eran Rosenberg
Background. Congenital urethral obstruction occurs most frequently as a result of urethral valves. The diagnosis is usually confirmed pre- or neonatally. Though not ideal, delayed diagnosis can occur in childhood, adolescence, or adulthood. Despite a normal prenatal ultrasound, there may still be a delayed diagnosis of urethral valves. Methods. We present 4 patients with delayed diagnosis of posterior urethral valves (PUV) and 1 patient with delayed diagnosis of anterior urethral valves (AUV) who were evaluated by a pediatric urologist at our Institution...
2020: Global Pediatric Health
https://read.qxmd.com/read/33083233/missed-anterior-sacral-meningomyelocele-presenting-with-obstructive-uropathy
#11
Terry Zhu, Jullet Han, Evalynn Vasquez
A 2-month-old full-term female presented with a large anterior sacral meningomyelocele resulting in transient obstructive uropathy with bilateral hydronephrosis and acute kidney injury. After initial bladder decompression and surgical resection of the meningomyelocele, there was spontaneous resolution of bladder function confirmed with urodynamics. Anterior spinal meningomyelocele (ASM) is a rare neural tube defect that may present with urinary dysfunction secondary to compression of the bladder and sacral nerve roots or congenital defects to the bladder nervous supply...
January 2021: Urology Case Reports
https://read.qxmd.com/read/33031641/compound-heterozygous-loss-of-function-variants-in-myl9-in-a-child-with-megacystis-microcolon-intestinal-hypoperistalsis-syndrome
#12
Justin L Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox, Yuan Xue
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), or "visceral myopathy," is a severe early onset disorder characterized by impaired muscle contractility in the bladder and intestines. Five genes are linked to MMIHS: primarily ACTG2, but also LMOD1, MYH11, MYLK, and MYL9. Here we describe a three-year-old girl with bilateral hydronephrosis diagnosed at 20 weeks gestation and congenital mydriasis (both of which have been previously observed among individuals with MMIHS). A clinical diagnosis of MMIHS was made based upon the presence of megacystis, lack of urinary bladder peristalsis, and intestinal pseudo-obstruction...
October 8, 2020: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/32978001/fetal-bladder-outflow-obstruction-interventions-outcomes-and-management-uncertainties
#13
Marie-Klaire Farrugia
Fetal lower urinary tract obstruction (LUTO) is classically based on prenatal ultrasound identification of a dilated/ thick-walled bladder, bilateral hydronephrosis, dilated ureters and a dilated posterior urethra (also known as the "keyhole sign") in a male fetus. Although the most common underlying diagnosis is posterior urethral valves, the prenatal appearance may be similar with urethral atresia or stenosis, the Prune-Belly Syndrome, or even a cloacal anomaly in a female. These conditions form part of the Congenital Anomalies of Kidney and Urinary Tract (CAKUT) spectrum, which is the commonest cause of end-stage renal disease in children...
September 10, 2020: Early Human Development
https://read.qxmd.com/read/32939113/role-of-urinary-transforming-growth-factor-beta-b1-and-monocyte-chemotactic-protein-1-as-prognostic-biomarkers-in-posterior-urethral-valve
#14
Pranay Panigrahi, Sarita Chowdhary, Shyamendra Pratap Sharma, Rakesh Kumar, Neeraj Agarwal, Shiv Prasad Sharma
Background: Posterior Urethral Valves (PUV) are the most common cause of congenital LUT obstruction in males. Biomarkers of glomerular or tubular injury may be of particular value in predicting the need for surgical intervention or in tracing progression of chronic kidney disease. Measurement of biomarker in urine is relatively easy. Aim: To evaluate the changes in values of urinary Transforming Growth Factor Beta 1(TGF-B1) and Monocyte Chemotactic Protein (MCP-1) before and after valve ablation and its prognostic value in Posterior urethral valve...
July 2020: Journal of Indian Association of Pediatric Surgeons
https://read.qxmd.com/read/32933872/side-predilection-in-congenital-anomalies-of-the-kidney-urinary-and-genital-tracts
#15
REVIEW
Joshua Kirkpatrick, Vipul Upadhyay, S Ali Mirjalili, Kiarash Taghavi
BACKGROUND: There appear to be various patterns of sidedness with relation to the common urogenital malformations observed in pediatric urology. The objective of this statistical review was to synthesize this data and to assess if these patterns are significant. MATERIALS AND METHODS: Eighteen urogenital conditions were investigated and for each condition the five largest studies that noted laterality were included. The sidedness of each condition was then analysed for statistical significance...
August 8, 2020: Journal of Pediatric Urology
https://read.qxmd.com/read/32793867/serial-amnioinfusion-as-regenerative-therapy-for-pulmonary-hypoplasia-in-fetuses-with-intrauterine-renal-failure-or-severe-renal-anomalies-systematic-review-and-future-perspectives
#16
Simrit K Warring, Victoria Novoa, Sherif Shazly, Mari Charisse Trinidad, David J Sas, Brenda Schiltz, Mikel Prieto, Andre Terzic, Rodrigo Ruano
The aim of this study was to investigate the effect of serial amnioinfusion therapy (SAT) for pulmonary hypoplasia in lower urinary tract obstruction (LUTO) or congenital renal anomalies (CRAs), introduce patient selection criteria, and present a case of SAT in bilateral renal agenesis. We conducted a search of the MEDLINE, EMBASE, Web of Science, and Scopus databases for articles published from database inception to November 10, 2017. Eight studies with 17 patients (7 LUTO, 8 CRA, and 2 LUTO + CRA) were included in the study...
August 2020: Mayo Clinic Proceedings. Innovations, Quality & Outcomes
https://read.qxmd.com/read/32792017/incidentally-detected-pancake-kidney-a-case-report
#17
Sabyasachi Bakshi
BACKGROUND: Congenital anomalies of the urinary system are very common and have extremely varied presentation. Among them, the most rarely found structural anomaly is the pancake kidney. When both kidneys are fused along their medial surfaces to form a round-shaped single renal mass, it is termed as pancake kidney. In this case report, a pancake kidney was incidentally detected in a girl. The majority of individuals who have pancake kidney are usually asymptomatic but surgeons should be aware of coexisting malformation of other organs and its potential risk of developing malignancy...
August 14, 2020: Journal of Medical Case Reports
https://read.qxmd.com/read/32779427/xanthogranulomatous-pyelonephritis-due-to-calculi-in-a-5-year-old-girl
#18
Esra Nagehan Akyol-Önder, Mine Özkol, Nalan Neşe, Can Taneli, İpek Özünan
BACKGROUND: Xanthogranulomatous pyelonephritis is characterized by the inflammatory destruction of the renal parenchyma and intensive renal fibrosis. It is named because of its pathological appearance; that of its granulomatous inflammatory process with lipid-laden macrophages, which appear yellow, hence `xantho` which is Greek for yellow. Xanthogranulomatous pyelonephritis is predominantly a disease of adults. In children it is diagnosed sporadically and is extremely rare in infants...
2020: Turkish Journal of Pediatrics
https://read.qxmd.com/read/32774983/a-case-of-left-retroexternal-iliac-artery-megaureter-associated-with-additional-renal-and-vascular-congenital-anomalies
#19
Amin A Karadaghy, Matthew T Bell, Daniel T Daly, Yun Tan
Introduction . A number of rare anatomical anomalies, including retroexternal iliac ureter, extrarenal calyces (ERCs), and vascular anomalies, were observed in a 96-year-old female cadaver during a routine dissection. Description . A markedly dilated left extrarenal pelvis (ERP) with a diameter of 3.15 cm was noticed. Three major calyces were found outside of the normal-sized left kidney. The abdominal aorta (AA), instead of normal bifurcation, branched to the right common, left external, and left internal iliac arteries...
2020: Case Reports in Urology
https://read.qxmd.com/read/32717245/urethral-multiplicity-when-two-are-better-than-one
#20
Karmon Janssen, Edwin Smith, Andrew Kirsch
Urethral multiplicity is a rare congenital anomaly that may be associated with lower urinary symptoms, whereas congenital urethral diverticulum is even more rare and may predispose to obstructive uropathy and urinary sepsis. We report 2 cases of boys with urethral multiplicity, to include urethral duplication associated with duplicated urethral diverticula and a case of urethral triplication.
July 25, 2020: Urology
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