Renal Ultrasound Studies Research Articles

Risk stratification framework to improve the utility of renal ultrasound in acute kidney injury.

Acute kidney injury (AKI) is common among hospitalised patients and can lead to significant morbidity or mortality if not properly managed. Renal ultrasound (RUS) is often requested in the initial workup of AKI to rule out obstructive uropathy despite pre-renal aetiologies being implicated in most cases, especially in patients without risk factors for obstruction. Determine the utility of RUS in detecting bilateral hydronephrosis in the context of AKI, and identify risk factors that can be used to stratify patients to better guide patient management. Adults who underwent RUS for AKI between January 2019 and December 2021 were reviewed. Renal ultrasound studies that identified bilateral hydronephrosis and the patient characteristics associated with these studies were recorded. Seven hundred and fifty-eight RUS reports were included. Bilateral hydronephrosis was diagnosed in 43 patients (5.7%). Of these 43 patients, 39 (90.7%) had at least one risk factor for urinary tract obstruction. Bilateral hydronephrosis was only diagnosed in 4 (9.3%) patients without any risk factor for obstruction. The risk factors with the highest odds for being diagnosed with bilateral hydronephrosis included a history of previous ureteric stenting or nephrostomy tube insertion (OR 10.37), previous bilateral hydronephrosis (OR 14.56), or multiple risk factors (OR 23.06). Renal ultrasound has limited utility in the evaluation of AKI in low-risk patients. These risk factors can be used to assign patients to high- or low-risk categories to better guide management and reduce the number of unnecessary studies performed while still identifying clinically significant disease.

Artificial intelligence-aided ultrasound in renal diseases: a systematic review.

The development of artificial intelligence (AI) techniques has provided a novel strategy for improving the performance of renal ultrasound. To reflect the development of AI methods in renal ultrasound, we aimed to clarify and analyze the state of AI-aided ultrasound research in renal diseases. PRISMA 2020 guidelines have been used to guide all processes and results. AI-aided renal ultrasound studies (for both image segmentation and disease diagnosis) published up to June 2022 were screened through the databases of PubMed and Web of Science. Accuracy/Dice similarity coefficient (DICE), the area under the curve (AUC), sensitivity/specificity, and other indications were applied as evaluation parameters. The PROBAST was used to assess the risk of bias in the studies screened. Of 364 articles, 38 studies were analyzed, and could be divided into AI-aided diagnosis or prediction related studies (28/38) and image segmentation related studies (10/38). The output of these 28 studies involved differential diagnosis of local lesions, disease grading of, automatic diagnosis, and diseases prediction. The median values of accuracy and AUC were 0.88 and 0.96, respectively. Overall, 86% of the AI-aided diagnosis or prediction models were classified as high risk. An unclear source of data, inadequate sample size, inappropriate analysis methods, and lack of rigorous external validation were found to be the most frequent and critical risk factors in AI-aided renal ultrasound studies. AI is a potential technique in the ultrasound diagnosis of different types of renal diseases, but the reliability and availability need to be strengthened. The use of AI-aided ultrasound in chronic kidney disease and quantitative hydronephrosis diagnosis will be a promising possibility. The size and quality of sample data, rigorous external validation, and adherence to guidelines and standards should be considered in further studies.

V01-03 SINGLE-PORT MINI PFANNENSTIEL ROBOTIC EXTRAPERITONEAL PEDIATRIC PYELOPLASTY: INITIAL EXPERIENCE

You have accessJournal of UrologyCME1 Apr 2023V01-03 SINGLE-PORT MINI PFANNENSTIEL ROBOTIC EXTRAPERITONEAL PEDIATRIC PYELOPLASTY: INITIAL EXPERIENCE Jaya Sai Chavali, Brendan Frainey, Albert Geskin, Ethan Ferguson, Roxana Ramos, Audrey Rhee, and Jihad Kaouk Jaya Sai ChavaliJaya Sai Chavali More articles by this author , Brendan FraineyBrendan Frainey More articles by this author , Albert GeskinAlbert Geskin More articles by this author , Ethan FergusonEthan Ferguson More articles by this author , Roxana RamosRoxana Ramos More articles by this author , Audrey RheeAudrey Rhee More articles by this author , and Jihad KaoukJihad Kaouk More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003221.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: We aim to report our technique and functional and radiological outcomes of extra peritoneal robotic pediatric pyeloplasty through a mini-pfannenstiel (3 cm) incision using da-Vinci single-port (SP) robotic surgical system in pediatric population. METHODS: We present our initial series of 8 pediatric patients that underwent robotic SP pyeloplasty between 2020 - 2022. The case presented in current video is 1 year old male with known history antenatal hydronephrosis that presented with worsening postnatal hydronephrosis and renal function on split function and renal ultrasound imaging studies. The patient underwent cystoscopy, stent placement that confirmed severe ureteropelvic junction (UPJ) obstruction prior to proceeding with robotic surgery. He was placed in relaxed lateral position, extra peritoneal space was developed through mini pfannenstiel incision before docking the SP surgical system. The following robotic surgical steps were described: (1) development of extra peritoneal space, (2) identification of ureter and ureteropelvic junction, (3) dismemberment and reduction of redundant renal pelvis, (4) ureteropelvic junction anastomosis using running 5-0 Vicryl sutures. RESULTS: Overall operative time was 120 minutes and associated with minimal blood loss. No complications and patient discharged on POD1 and stent removed in 4 weeks as outpatient. The attached tables describe our study patient demographics, indications (Table 1) and outcomes among our study population (Table 2). All patients tolerated the surgery with minimal postsurgical pain and no narcotic requirement. CONCLUSIONS: Single port extra peritoneal pyeloplasty is a safe and feasible option for upper tract reconstruction in pediatric patients. All patients had complete resolution of symptoms both clinically and based on imaging upon follow up. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e79 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Jaya Sai Chavali More articles by this author Brendan Frainey More articles by this author Albert Geskin More articles by this author Ethan Ferguson More articles by this author Roxana Ramos More articles by this author Audrey Rhee More articles by this author Jihad Kaouk More articles by this author Expand All Advertisement PDF downloadLoading ...

Reasons why referring doctors order renal ultrasound contrast studies.

To determine the indications for CEUS for renal mass evaluation. This retrospective, single-center, IRB-approved, HIPAA compliant study analyzed data from 303 consecutive patients scheduled for a renal CEUS to determine the indications for the examination. A chart review was performed from 05/01/2020 through 05/31/2021 on all patients who received a renal CEUS. The patient demographics were extracted as well as the motivating factor for ordering the examination. From the 303 patients, 114 were referred because of an indeterminate mass seen on CT and 28 were referred for long-term follow-up of a mass defined as benign or malignant was identified on CT. 9 patients were referred for a CEUS follow-up due to an indeterminate mass on MRI and 6 patients were referred for long-term follow-up of a mass defined as benign or malignant on MRI. 34 patients were referred for follow-up for characterization of a lesion seen on unenhanced ultrasound. 48 patients and 21 patients were referred for long-term follow-up of a previously observed benign or malignant lesion, respectively, seen on CEUS. CEUS was ordered in 21 patients to follow-up a partial nephrectomy and 5 patients for follow-up of a thermal ablation. 7 patients were referred because of a clinical finding. The main reason for a renal CEUS referral is to characterize a mass which could not be characterized on CT or MRI. Another main indication is for long-term follow-up of lesions to decrease radiation dose. Referrals due to inability to receive CT or MRI contrast or renal insufficiency were minor indications.

Nephrocalcinosis in genetically proved dopa-responsive dystonia due to sepiapterin reductase deficiency in a Libyan Girl

Dopa-responsive dystonia (DRD) encompasses clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia and exhibit a robust and sustained response levodopa treatment. GCH1 gene mutations are the most frequent cause of DRD. Mutations in the TH or SPR gene less often cause this condition. The index case is a 12-year-old young girl presented to the pediatric neurology clinic at the age of 8 years with tiptoes walking and deterioration of her gait. She is the product of first-degree consanguineous marriage with insignificant history. The index case has two sisters, one of whom suffers from learning difficulties, epilepsy, and bilateral nephrocalcinosis. Her two uncles had severe axonal polyneuropathy and died in their forties of unknown cause. Her magnetic resonance imaging of the brain demonstrated agenesis of the corpus callosum. Renal ultrasound studies showed bilateral nephrocalcinosis. Genetic DNA evaluation (whole-exome sequencing) identified the heterozygous variant c.207C>G,p. (Asp69Glu) in the SPR gene (OMIM: 182125), which leads to an amino acid exchange. Nine out of ten bioinformatic in silica programs predict a pathogenic effect for this variant. Treatment with levodopa\ benserazide 4:1 (Madopar) has not made any changes to the girl's condition.

Is the lower pole crossing vessels transposition a valid option for the treatment of extrinsic ureteropelvic obstruction in children? Considerations from a single-centre experience

To assess the efficacy of the vascular hitch procedure in extrinsic ureteropelvic junction obstruction (UPJO) by crossing vessels in children, both by open and mini-invasive approach. Retrospective analysis on patients treated by open or mini-invasive vascular hitch during the period 2006–2020. Preoperative imaging included renal ultrasound (US) and functional studies by magnetic resonance or renogram. Crossing vessels obstruction and UPJ anatomy were evaluated at surgery. Success was defined as the resolution of symptoms and improvement of hydronephrosis at US or functional studies. Forty-eight patients were included with mean age at surgery of 7.6 years and 25% had an antenatal diagnosis. Aberrant vessels were suspected preoperatively in 72.9%; mean hydronephrosis and renal function were 30.9 mm and 38% respectively. Seven cases were treated by open approach, 37 by laparoscopy and 4 were robotassisted. Mean operative time was 58.3 min and mean hospital stay was 2 days. Mean follow-up was 16.9 months; success rate was 91.6% and 5 patients required secondary surgery. Vascular hitch shows to be a safe, feasible and effective alternative to pyeloplasty. Careful pre and intra-operative patients’ selection is essential to exclude any intrinsic cause of UPJO. Mini-invasive surgery could be helpful for better evaluation of UPJ anatomy and its relationships with crossing vessels. Complications and secondary surgeries could be related to incorrect patients’ selection.

Cardiac, cerebral, renal, optic nerve, and lung ultrasound study (CCROSS) protocol.

The use of echocardiography is very useful in the evaluation, treatment, and follow-up of the patient in critical condition. Along with clinic and the stethoscope, it is a tool that complements the act of the physician faced with the diversity of etiologies that determine the state of shock and increase morbidity and mortality, especially in post-cardiac surgery patients, in whom there are no management emergency post-surgical algorithms. In view of this situation, at the National Institute of Cardiology Ignacio Chávez, a management algorithm has been made and improved in cardiac post-surgical patients: through focused ultrasonography, including transthoracic echography, pulmonary ultrasound, optic nerve ultrasound, and renal ultrasound by evaluating renal resistive indices. Several societies have created their protocols for addressing patients in critical condition, so in the institute, specifically in cardiovascular intensive therapy, has created the cardiac, cerebral, renal, optic nerve, and lung ultrasound study (CCROSS) protocol for the initial approach of these patients, and a study is currently taking place for its validation, reproducibility, and efficacy.

P42 Delayed diagnosis in paediatric sarcoidosis: lessons we can learn

Abstract Background Sarcoidosis is a rare autoinflammatory systemic granulomatous disease that can affect any organ in the body. Paediatric literature does not give a prevalence of neurosarcoidosis. Clinical features can be tricky to identify and piece together to suggest the diagnosis and biochemical markers such as serum angiotensin converting enzyme lack sensitivity. Methods This case report of a 13 year-old boy demonstrates his journey to diagnosis as he bounced between multiple private and NHS care teams. Referral was to our paediatric rheumatology department with a single oesophageal granuloma and bilateral uveitis. Symptoms include nausea, vomiting, weight loss which was regained, fatigue, disturbed sleep, chronic dry cough, then worsening headaches. He had been treated privately with steroid eye drops for bilateral uveitis. Histology of the oesophageal granuloma showed no acute inflammation. A private paediatric rheumatologist review concluded idiopathic uveitis with no underlying systemic disease that could be delineated at that time. A private haematologist subsequently diagnosed him with a chronic systemic inflammatory process leading to an iron deficient anaemia. Results He represented to his ophthalmologist with a 3 week history of worsening headaches and was found to have papilloedema. He was urgently jointly reviewed in the NHS setting by a paediatric gastroenterologist, neurologist and rheumatologist. Clinically apart from the bilateral pappiloedema there were no signs of disease. Urgent MRI demonstrated widespread inflammation and oedema in both cerebellar hemispheres and within his white matter bilaterally, as well as some cortical patches. Magnetic resonance arteriogram and magnetic resonance venogram were normal. Tonsillar herniation and ventricular tightness due to raised intracranial pressure was noted. He was admitted urgently. Bloods showed normal inflammatory markers, iron deficient anaemia, ANCA negative, ACE 30 iu/L, Quantiferon negative. CXR was normal as were pulmonary function tests. A raised urinary calcium with raised calcium:creatinine ratio led to a renal tract ultrasound study that showed early nephrocalcinosis bilaterally. Ophthalmology review demonstrated granulomatous pan uveitis with macular oedema. NOD2 genetic testing was negative. Conclusion Neurosarcoidosis was diagnosed. He was treated with 2mg/kg IV Methylprednisolone over 3 consecutive days then a slow prednisolone wean starting at 60mg per day orally and 6 times a day Prednisolone eye drops. Weekly methotrexate 15mg subcutaneously and 5mg folic acid were started followed shortly by subcutaneous Adalimumab 40mg fortnightly. Repeated MRI brain scans after treatment commenced showed resolution of cerebral inflammation. Follow up ophthalmology reviews demonstrate resolution of his uveitis. Bilateral nephrocalcinosis has persisted despite normalised serum and urinary calcium. It was not until he was seen by an ophthalmologist with expertise in both areas that the severity and nature of the uveitis including it being granulomatous was picked up. The diagnosis was delayed due to the lack of joined up working between private and NHS sectors. Conflicts of Interest The authors declare no conflicts of interest.

Implications of Bacteriuria in Myelomeningocele Patients at Time of Urodynamic Testing.

Objective: To identify those myelomeningocele (MMC) patients at risk for post-urodynamic study (UDS) complications. We hypothesized that patients who manage their bladder with clean intermittent catheterization (CIC) would have a greater risk of post-instrumentation complications due to higher rates of bacteriuria compared to those who freely void (FV). Design/Methods: Urine was collected from patients with MMC without augmentation cystoplasty undergoing routine renal ultrasound or urodynamic study (UDS). Samples were divided into those with bacteriuria (urine culture ≥10,000 colony-forming units) and those without. Post-UDS complications were evaluated and compared between CIC and FV patients. Results: A total of 91 urine samples from 82 total MMC patients were included for evaluation. Significantly more patients on CIC than those who FV had bacteriuria (67% vs 33%, p = .0457). From these urine samples, 54 were obtained at time of UDS of which 45 were from patients on CIC and 9 from FV patients. More patients on CIC had bacteriuria at the time of UDS than those who FV (60% vs 33%, respectively), but this did not reach significance (p = .1416). No patient with bacteriuria on CIC had a complication after UDS while one FV patient with bacteriuria developed post-UDS pyelonephritis. Conclusion: MMC patients with bacteriuria on CIC did not have post-UDS complications. Patients with bacteriuria who FV may be at particular risk for post-instrumentation UTI, providing guidance as to which MMC patients should undergo urine testing prior to UDS in order to prevent post-instrumentation pyelonephritis.

Value of prior imaging review before ordering renal sonography in the evaluation of abnormal renal function.

To determine the prognostic relevance of prior imaging studies in the evaluation of patients referred for renal ultrasound (US) examination to investigate abnormal renal function tests. We conducted a retrospective study of 208 consecutive renal US examinations performed for abnormal renal function tests. 68% (142/208) of patients reviewed for the study had prior abdominal imaging with 15% (21/142) receiving that imaging within 1 month prior to the renal US study and 56% (80/142) within the prior year. Of all patients with prior imaging studies, only 6/142 (4%) demonstrated any significant interval change, with development of hydronephrosis, which was also clinically evident as a substantial rise in serum creatinine level. Review of prior imaging studies, in addition to other pertinent clinical data, should result in a significant reduction in the number of unnecessary renal US examinations performed in patients with abnormal renal function. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 45:537-541, 2017.

Prenatal myelomeningocele repair: Do bladders better?

Prenatal myelomeningocele (MMC) repair has been proven to significantly reduce the need for hydrocephalus shunting and improve lower-extremity motor outcomes. The aim of this study was to evaluate the effect of prenatal MMC repair on the urological outcome. All patients who underwent fetal MMC repair at our institution are followed prospectively. Assessments include medical history, renal and bladder ultrasound, voiding cystourethrogram and urodynamic study, need for clean intermittent catheterization (CIC) and anticholinergics, and the occurrence of urinary tract infections (UTI). Of the 30 patients who underwent prenatal MMC closure from December 2010 to December 2015, eight patients with a postnatal follow-up of at least 2 years were included in this study and compared with eight patients after postnatal MMC repair. The level of the bony spinal defect was similar in both groups. Urological evaluation at 2 years revealed normal bladder function in 50% after prenatal repair. Neurogenic bladder dysfunction requiring CIC and anticholinergic therapy was seen in 50% in the prenatal and in 100% in the postnatal group. Significant bladder wall thickening was found in 37.5% and 87.5%, respectively. Febrile UTIs occurred in 37.5% in the prenatal and 62.5% in the postnatal group during the observation period. Our data suggest a positive effect of prenatal MMC closure on lower urinary tract function. The long-term significance of these results remains unclear. Therefore, continued close monitoring of renal and bladder function are mandatory.

A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis

Introduction and Aims. Congenital absence of the vas deferens is an uncommon anomaly and this clinical condition is responsible for up to 1-2% of male infertility. It can be either unilateral or bilateral and the associated anomalies include cryptorchidism, seminal vesicles and ejaculatory ducts anomalies, and renal anomalies such as renal agenesis. We hereby present a case of congenital unilateral absence of vas deferens, which was found incidentally during an evaluation of undescended testis in a patient with ipsilateral renal agenesis. Case Presentation. A 10-month-old boy was referred to the urology clinic with an undescended right testis. Preoperative abdominal ultrasonography showed agenesis of the right kidney and the absence of right vas deferens and epididymis was confirmed during laparoscopic orchiectomy performed due to short right spermatic cord. There were no other concomitant anomalies of the genitourinary system observed in evaluation. Conclusion. Congenital unilateral absence of the vas deferens with cryptorchidism and renal agenesis is a rare diagnostic entity. Cryptorchidism or absent vas deferens found incidentally should lead the physician to evaluate the status of the contralateral vas deferens and conduct a renal tract ultrasound study.

Compare serum creatinine versus Renal 99mTc-DTPA scan determined glomerular filtration rates in veterans with traumatic spinal cord injury and meurogenic bladder

Objective: This observational study: (a) compared serum creatinine (estimated glomerular filtration rate (EGFR)) to renal isotope 99mTc-DTPA (GFR) determined glomerular filtration rate, and evaluated whether either method (b) better determined the state of renal function, and (c) predict urinary tract infection (UTI), renal and urological structural lesions or mortality in veterans with traumatic spinal cord injury (SCI) and neurogenic bladder (NGB).Design: Observational study.Setting: VA Medical Center affiliated with Oklahoma University.Participants: Veterans with SCI and regularly followed in SCI clinic. Demographic and clinical data, as well as, EGFR, GFR, blood urea nitrogen (BUN) and serum creatinine levels, and presence of UTI, renal and urinary bladder lesions on renal nuclear scan, renal ultrasound, and cystoscopy studies were recorded.Interventions: None.Main Outcome measures: Urological lesions, UTI, and Mortality.Results: For 161 patients with SCI and NGB the mean ± SD for EGFR was 104 ± 36 and 84 ± 32 for GFR. EGFR and GFR were positively correlated (r = 0.34, P = 0.015). GFR was significantly (P < 0.05) more sensitive and specific in determining renal functional state. Neither measures were significant indicator for UTI, renal or urological lesions; GFR was a significant predictor of risk of death (1.2 times increase in risk per 10 unit drop in GFR) even after adjusting for age (P = 0.040).Conclusion: While GFR and EGFR are comparable measures of glomerular filtration, GFR was a more informative measure of renal functional state and risk of mortality than EGFR. Neither method predicted the presence of UTI related renal or urological lesions.

Acute Kidney Injury

Acute Kidney Injury

Acute Kidney Injury

1. David T. Selewski, MD* 2. Jordan M. Symons, MD† 1. *Department of Pediatrics and Communicable Diseases, Division of Nephrology, C.S. Mott Children’s Hospital, University of Michigan, Ann Arbor, MI. 2. †Department of Pediatrics, Division of Nephrology, University of Washington School of Medicine, Seattle, WA. * Abbreviations: ACE: : angiotensin-converting enzyme AKI: : acute kidney injury AKIN: : Acute Kidney Injury Network ANCA: : antineutrophil cytoplasmic antibody ATN: : acute tubular necrosis ECG: : electrocardiogram FEurea: : fractional excretion of urea FENa: : fractional excretion of sodium KDIGO: : Kidney Disease: Improving Global Outcomes NSAID: : nonsteroidal anti-inflammatory drug RIFLE: : Risk, Injury, Failure, Loss, and End-stage The term acute kidney injury has replaced acute renal failure and represents a spectrum of clinically meaningful kidney damage. After completing this article, readers should be able to: 1. Recognize and define the spectrum of acute kidney injury (AKI). 2. Understand the diagnostic approach and be able to differentiate the main causes of AKI. 3. Understand the complications of AKI and the treatment of a child with AKI. Acute kidney injury (AKI), formerly called acute renal failure, is characterized by multiple abnormalities, including increases in serum creatinine and blood urea nitrogen, electrolyte abnormalities, acidosis, and difficulties with fluid management. We have come to realize that what was previously thought to be relatively minor damage to the kidney can have significant short-term effects on morbidity and mortality and potential long-term implications for the development of chronic kidney disease. Thus, the term acute kidney injury has replaced acute renal failure , suggesting the spectrum of kidney damage that can occur. ### Definition AKI is classically defined as an acute decrease in glomerular filtration rate, which results in an increase in serum creatinine. It is important to recognize the limitations of creatinine as a marker of AKI because an increase in creatinine can be delayed by as much as 48 hours after damage to the kidney has occurred. Despite this limitation, change in creatinine remains the gold standard for the diagnosis of AKI. An evolution in the definition of AKI to better understand, characterize, and study the disease spectrum, has occurred, which has sought to capture the clinical importance of even small variations in kidney function. In addition, previous definitions used in the literature were widely disparate; this …

Sonographic Finding of Persistent Renal Pelvic Wall Thickening in Children

Renal pelvic wall thickening (RPWT) is a sonographic finding, which is associated with urinary tract infection (UTI) and other genitourinary tract abnormalities. We aimed to determine the prevalence of RPWT and whether persistent RPWT related to vesicoureteral reflux (VUR). We retrospectively reviewed sonographic findings of RPWT in children and adolescents referred for renal ultrasound study from January 2010 to December 2011. A total of 502 patients showing RPWT were included, 372 of whom received follow-up sonograms. Among them, 86 children underwent both follow-up sonograms and voiding cystourethrography studies. The association between persistent RPWT and VUR was analyzed. A total of 602 sonograms with RPWT were identified, accounting for a prevalence of 11.4%. Follow-up sonograms, revealing that these patients had recovered from RPWT, was found in 93.7% (459/490) of renal units and in 92.7% (345/372) of the patients. Children with persistent RPWT had a strong association with VUR occurrence (p=0.018) and high VUR grading (p=0.006) compared to those without persistent RPWT. RPWT is a common finding in children and adolescents. Persistent RPWT is associated with VUR, especially with high grade VUR. Complementary uroradiological studies should be performed for children and adolescents with persistent RPWT.

Urinary Symptoms and Urodynamics Findings in Patients with Friedreich's Ataxia

To assess the prevalence of LUTS, urinary tract and urodynamics changes in patients with Friedreich's Ataxia (FA), the most common form of hereditary ataxia. This study evaluated 258 patients with genetically confirmed diagnoses of FA. Of the patients, 158 responded to a questionnaire which assessed their urinary symptoms. Patients with clinical changes underwent renal function examinations, ultrasound, and urodynamic studies (UDS). The sample analyzed showed that 82% of the patients complained of LUTS, although only 22% related the symptoms with quality of life impairment. Twenty eight (18%) of them agreed to undergo urodynamic evaluation. Urgency was the most common symptom. The exam was normal in 4 (14%) and detrusor underactivity was the most common finding. 14% (4 patients) presented with dilatation of the upper urinary tract at ultrasound scans. None of them had creatinine alterations. LUTS was found in a large percentage of patients with FA, but only a few related it to their quality of life impairment. Although creatinine levels was normal in this sample, some patients may show upper urinary tract abnormalities, with deserves close observation and proper care.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

A small supernumerary marker chromosome is often seen in patients with developmental disorders. Prior to array-based comparative genomic hybridization markers were rarely genotyped end to end. In this study, a valid genotype-to-phenotype correlation was possible because the supernumerary marker chromosomes were fully characterized by array-based comparative genomic hybridization in a genome-wide analysis. Ten consecutive de novo small supernumerary marker chromosome cases were systematically genotyped using G-banding, C-banding, AgNOR staining, whole-genome array-based comparative genomic hybridization, and fluorescence in situ hybridization. Among 10 small supernumerary marker chromosome cases studied, 4 (40%) were not identified by array-based comparative genomic hybridization because of low-level mosaicism or because they lacked euchromatin. One case (10%) was a simple pericentromeric marker extending from 5p13.3 to 5q11.2. Five (50%) markers showed unexpected complexity. Two cases had markers that were derivative acrocentric (AgNOR+) chromosomes with the euchromatin from chromosomes 18p or 19p. Each of the other three cases with complex markers had unusual characteristics including a marker from noncontiguous segments of chromosome 19q, a highly complex rearrangement involving a chromosome 20 homolog as well as the small supernumerary marker chromosome, and a mosaic duplication of a proximal 8p marker. Small supernumerary marker chromosomes are frequently complex on the basis of our small sample. Whole-genome array-based comparative genomic hybridization characterization of the small supernumerary marker chromosome provided informed genetic counseling.

Bladder Bulge: Unifying Old and New Sonographic Bladder Wall Abnormalities in Ureterolithiasis

As long as CT remains the first line imaging modality in suspected ureterolithiasis, emergency physicians will continue to perform the majority of renal colic ultrasound studies in a search for hydronephrosis. Hydronephrosis, however, is not always present and emergency physicians may not find it as useful as would be expected. Through this case series of seven patients, we present what we believe to be commonly present and easily acquired sonographic bladder wall findings in ureterolithiasis. These abnormalities are not routinely taught in emergency ultrasound and have not been reported in the emergency medicine literature. One variant, in fact, may be a novel finding unto itself. Due to their similar appearance, we propose to unify these findings under the name “bladder bulge.” This sign can be seen on axial views as an inward bulging or focal thickening of the bladder wall on the affected side, at the uretovesical junction. [West J Emerg Med. 2012;13(6):517-523]

Thickness of the renal pelvis smooth muscle indicates the postoperative course of ureteropelvic junction obstruction treatment

ObjetiveTo investigate the relationship between the histopathologic findings and the postoperative course of children surgically treated for ureteropelvic junction (UPJ) obstruction. Material and methodsTwenty-eight patients operated for unilateral UPJ obstruction from 1998 to 2005 with adequate histopathologic specimens and postoperative follow up were retrospectively reviewed. Specimens were stained using elastic van Geisson to differentiate smooth muscle from collagen and elastin. Postoperative follow up included renal ultrasound (U/S) and diuretic renogram studies. ResultsTwelve patients with mean renal pelvis smooth muscle thickness (mRPSMT) of 136.97±34.17 improved on the 6th postoperative month. Nine patients that improved after 9 months postoperatively had mRPSMT=173.61±33.91. The rest 7 patients that improved on the 12th postoperative month had mRPSMT=258.78±96.09. Correlation between renal pelvis smooth muscle and time of postoperative improvement was extremely significant (r=0.7928, p<0.0001). ConclusionThe thickness of the renal pelvis smooth muscle is significantly correlated to the postoperative course of patients with UPJ obstruction and can be used as a prognostic tool for the onset of their improvement.