Urogenital System Commons^™

Antiviral Activity And Mucosal Safety Of Novel Human-Milk-Inspired Antimicrobial Peptides, Nazita Yousefieh, Louise A. Ouattara, Maimoona Bhutta, Ishita M. Shah, Carolina Herrera, Gustavo F. Doncel

CONRAD Publications

Background: Sexually transmitted infections (STIs) remain a major global health concern, with over one million new curable cases reported daily and limited long-term treatment options. Additionally, there are limited treatment options for women with bacterial vaginosis (BV), a dysbiotic condition predisposing them to STIs. Computationally designed human-milk-inspired antimicrobial peptides (AMPs) are promising candidates for novel antiviral and antibacterial therapies. This study evaluated the cervicovaginal mucosal safety and antiviral activity of three human-milk-inspired AMPs (MAT-006, UCD-MAT-001, and UCD-MAT-002) previously shown to exhibit antimicrobial activity against BV-causing pathogens. Methods: AMP cytotoxicity and inflammatory responses were assessed in relevant genital tract cell lines …

Association Of Obesity Severity With Cardiometabolic And Renal Disease Burden In The United States, Florina Corpodean, Michael Kachmar, Shengping Yang, Steven B. Heymsfield, Peter T. Katzmarzyk, Philip R. Schauer, Michael W. Cook, Vance L. Albaugh

School of Medicine Faculty Publications

Objective This study examined the association between obesity severity and cardiometabolic and renal disease, using BMI as a surrogate for obesity severity. Methods This is a cross-sectional study using data from the United States Behavioral Risk Factor Surveillance System (BRFSS), 2011–2023. Survey-weighted logistic regression estimated odds ratios (OR) for the diagnosis of diabetes, hypertension, hyperlipidemia, kidney disease, myocardial infarction, stroke, and coronary artery disease among increasing BMI categories. Results Higher BMI was associated with increased odds of all conditions. For BMI ≥ 50 kg/m2, odds were notably elevated for diabetes (OR 8.32; 95% CI: 7.78–8.91), hypertension (OR 6.07; 95% CI: …

Increased Risk Of Renal Disease In Patients With Hidradenitis Suppurativa: A Retrospective Cohort Study Utilizing Trinetx, Tyler Hernandez, Christopher Haas

School of Medicine Faculty Publications

No abstract provided.

Acute Pancreatitis With Acute Kidney Injury Is Associated With Worse 30 And 90-Day Outcomes: A Multinational Multicenter Analysis, Donghyun Ko, Do Han Kim Md, Pedro Palacios Argueta Md, Wilhelm S. Basegoda Md, Frank J. Lukens Md, Paul T. Kroner Md

Posters

Acute kidney injury (AKI) in patients with acute pancreatitis (AP) has been consistently shown to impact clinical outcomes and is a marker of organ dysfunction, being a primary indicator and driver of disease severity. The cornerstone of management of AP is aggressive intravenous fluid administration, and AKI has traditionally been a surrogate measure of the adequacy of volume repletion and is even recommended by the current ACG guidelines to be monitored in 6-hour intervals for 24-48 hours from presentation. While having been proven to be a factor of paramount importance on prior studies, the aim of our study is to …

Association Of Perioperative Factors With Lymph Node Positivity In Bladder Cancer Following Radical Cystectomy, Alyssa Laguerta, Kimberly Toumazos, Virgil Kevin Demario, Vaishnavi Patel, Balaji Reddy, Mark Quiring, Evan Jones, Young Son, Ronald Clearie, Thomas Mueller

Rowan-Virtua Research Day

Introduction and objectives: The treatment of bladder carcinoma relies on a multimodal approach, including chemotherapy, radical cystectomy, and lymph node dissection, but clear guidelines for the optimal strategy remain ambiguous. Radical cystectomy is complex, with high morbidity and mortality, yet limited research has focused on its short-term implications for lymph node-positive bladder cancer. This study aims to address these gaps by identifying perioperative factors linked to lymph node positivity and comparing outcomes between lymph node-positive and negative patients.

Methods: We conducted a retrospective analysis of 4382 bladder cancer patients who underwent radical cystectomy, collecting comprehensive clinical and surgical data. Clinical …

Case Report: Pigtail Suprapubic Catheter Placement In A Patient With Acute Urinary Retention And Abdominal Mesh, Clara Keum, Zamran Masih, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Acute urinary retention (AUR) is a urological emergency that requires immediate bladder decompression and management of the underlying condition to prevent further complications such as urinary tract infection and renal failure. When standard urethral catheterization is not feasible, a suprapubic catheter can be used to achieve adequate bladder drainage. However, in patients with structural or anatomical challenges, such as the presence of surgical mesh, suprapubic catheter placement can be difficult. This case report presents the successful placement of an 8.5 French pigtail catheter and urinary drainage in an 86-year-old male with abdominal mesh who presented with AUR.

Simple And Epididymal-Sparing Orchiectomy For Surgical Castration In Stage Iv Prostate Cancer, Harrison Travis, Michael Dubic, Joseph Bardot, Blane Edwards, Jessie R. Gills, Scott E. Delacroix, Stephen Lacour, Matthew Mutter, Donald Bell, Mary E. Westerman

School of Medicine Faculty Publications

Background: Androgen deprivation therapy, the mainstay of treatment for patients with advanced prostate cancer, can be either medical or surgical. Surgery has cost benefits compared to medical treatment. In this study, we evaluated the use of simple and epididymal-sparing orchiectomy in 2 different practice settings for the treatment of metastatic prostate cancer. Methods: We reviewed patients who underwent surgical castration for metastatic prostate cancer between 2011 and 2022. The primary outcome was achieving castration-level total testosterone of /dL. We also compared the characteristics of patients who were seen at a public academic teaching hospital vs those who were seen at …

Renal Mass Imaging Modalities: Does Body Mass Index (Bmi) Matter?, Young Son, Mark E Quiring, Raeann M Dalton, Brian Thomas, Noah Davidson, Dayna Devincentz, Collin Payne, Sahil H Parikh, Benjamin A Fink, Thomas Mueller, Gordon Brown

Rowan-Virtua School of Osteopathic Medicine Departmental Research

PURPOSE: Accurate measurement of renal mass size is crucial in the management of renal cancer. With the burdensome cost of imaging yet its need for management, a better understanding of the variability among patients when determining mass size remains of urgent importance. Current guidelines on optimal imaging are limited, especially with respect to body mass index (BMI). The aim of this study is to discern which modalities accurately measure renal mass size and whether BMI influences such accuracy.

METHODS: A multi-institutional chart review was performed for adult patients undergoing partial or radical nephrectomy between 2018 and 2021, with 236 patients …

Improving Fertility: Evaluating The Addition Of Prednisone To Enhance The Effectiveness Of Clomid And Femara In Anovulatory Patients., Jeffrey Bradford

Biological Sciences Undergraduate Honors Theses

Chronic Anovulation and PCOS is a major infertility issue that affects the ability of many female patients to conceive and obtain a pregnancy. General anovulation is influenced by a combination of factors such as hypoandrogenism, hormonal imbalances, and an irregular menstrual cycle. The current methods of treatments include the usage of first-line medications such as Clomid and Femara or more expensive options such as menotropin regimens, Intrauterine Insemination (IUI), or In Vitro Fertilization (IVF). While Clomid and Femara remain the most common and successful method, an estimated 25% of general anovulation patients will fail to ovulate despite a maximum dosage …

Pessary Use In Urology Clinics, Kathy Z. Lu Bs, Emily Brodowsky Md, Alex Stephens Ms, Samantha Raffee Md, Humphrey Atiemo Md

Medical Student Research Symposium

Introduction: Pessaries are a non-invasive treatment option for patients with pelvic organ prolapse (POP) or stress urinary incontinence (SUI). There is currently limited data regarding pessary usage among urology patients. The aim of this study is to determine the patient characteristics that predict long term pessary usage versus surgical intervention.

Methods: A 10-year retrospective review of pessary usage in women with either SUI or POP was performed. Patients were stratified into pessary longevity of less than or greater than one year. Quality of life measures before and after pessary use included pads per day, incontinence symptom index (ISI) scores, and …

Clinical Pathway Using Arabic Written Medical Information To Improve Incontinence Healthcare Utilization, John F. Knapp, Codrut Radoiu, Emma Ross, Jack Vercnocke Md, Aron Liaw Md, Nivedita Dhar

Medical Student Research Symposium

Introduction and Objective: Metro Detroit holds ~13% of all Arabic speakers in the U.S.A. and 91% of those in Michigan. Evidence supports that patients who do not speak the local language have poor access to healthcare. This study describes our preliminary experience of managing Arabic only speaking women with bothersome stress urinary incontinence (SUI) from May 2022 to October 2023. These women routinely request same-sex interpreters, which is not always possible, leading to a lack of detailed translation. A potential solution is to use Arabic written medical information (AWMI). The purpose of the study was to retrospectively look at the …

Prostatic Utricle Presenting As A Midline Scrotal Mass, Kaitlyn E. Schultis, Bryant Van Leeuwen, John Makari

Graduate Medical Education Research Journal

The prostatic utricle is a remnant of the Müllerian duct located within the verumontanum. An enlarged, clinically significant prostatic utricle has classically been associated with hypospadias. Prostatic utricles often present with persistent lower urinary tract symptoms, recurrent infections, and urinary incontinence. We present a prostatic utricle that presented as a scrotal mass concerning for rhabdomyosarcoma in a male with normal external genitalia.

Association Of Prematurity And Urogenital Comorbidities With Postoperative Outcomes Of Ureteroneocystostomy For Vesicoureteral Reflux, Raeann Dalton, Young Son, Edward Wu, Leah Anderton, Matthew Eximond, Lance Earnshaw, Katelyn Klimowich, Gregory Dean

Rowan-Virtua Research Day

Background: It is estimated that 20-30% of congenital anomalies involve the kidney and ureter, and these rates are even higher in infants with low birth weights. Vesicoureteral reflux (VUR) occurs when there is a backflow of urine from the bladder to the kidney. Depending on severity, this condition may require surgical correction with ureteroneocystostomy (UNC). The impact of premature birth and presence of urogenital comorbidities on outcomes of UNC is not known. The objective of this study is to determine the relationship between premature birth and urogenital comorbidities with operative outcomes of UNC for VUR.

Methods: The 2020 American College …

The Vaginal Microbiome Post-Menopause And Urinary Tract Infections, Rifke Anolik, Julia Kiffel, Venkateswar Venkataraman

Rowan-Virtua Research Day

Background: Urinary Tract Infection (UTI) is a condition where pathogens invade the urinary tract and can travel up the urethra and into the bladder. UTIs occur more commonly in females compared to males and in the post-menopausal population this rate increases significantly. While these infections may be asymptomatic, they can also cause severe discomfort and lead to serious and even life threatening complications. Recent investigation into the vaginal microbiome has opened the doors to a possible mechanism behind the increased incidence of UTIs after menopause. Understanding the pathogenesis behind the increased risk of UTIs in the postmenopausal state will allow …

Ureterocutaneous Fistula In Setting Of Recurrent Gluteal Abscesses: A Case Report, Catherine Alapatt, Young Son, Benjamin Fink, Brian Thomas, Sean Coulson, Shawon Akanda, Jacob Thatcher, Thomas Mueller

Rowan-Virtua Research Day

Ureteral fistulas are a rare occurrence that can arise from iatrogenic trauma, radiation, malignancy, and inflammation. Treatment options of urinary tract fistulas are handled on a case-by-case basis and can necessitate a surgical approach. We present the case of an 85-year-old patient with a ureterocutaneous fistula where conservative management with PCN is a viable alternative to surgical intervention.

Sexual Dimorphism Of Glomerular Capillary Morphology In Rats, Zackarias Coker

Undergraduate Honors Theses

Chronic kidney disease (CKD) progresses faster in males than females; however, the underlying mechanisms remain poorly understood. Sex differences in glomerular capillary morphology has been hypothesized to contribute, in part, to the increased susceptibility to hypertension-induced renal injury and CKD progression in males, but this has not been investigated. The goal of the present study was to assess glomerular capillary morphology in male vs. female rats with intact kidneys and after uninephrectomy (UNX). We hypothesized that glomerular capillary radii (R_CAP) and length (L_CAP) would be greater in male rats.

Male (n=4) and female (n=4) with intact …

Neoadjuvant Chemotherapy As A Risk Factor For Urinary Anastomotic Leak In Patients Undergoing Radical Cystectomy, Young Son, Katelyn Klimowich, Joseph Flemming, Lance Earnshaw, Benjamin Fink, Brian Thomas, Thomas Mueller

Rowan-Virtua Research Day

Muscle-invasive bladder cancer (MIBC) represents approximately 25% of all bladder cancer and carries a significant risk of mortality. Neoadjuvant chemotherapy (NAC) and radical cystectomy (RC) is the standard of care for MIBC. One complication associated with RC is ureteral anastomotic leak with a predicted rate of 3%. The objective of this National Surgical Quality Improvement Project (NSQIP) database analysis is to determine if correlations exist between radiation (RAD) and/or NAC before RC and anastomotic leak in the treatment of MIBC.

Factors And Outcomes Contributing To Pelvic Lymph Node Dissection In Non-Muscle Invasive Bladder Cancer, Young Son, Brian Thomas, Lance Earnshaw, Mark Quiring, Erica Martel, Benjamin Fink, Raeann Dalton, Thomas Mueller, Philip Dorsey

Rowan-Virtua Research Day

Bladder cancer represents the 6th most common for men and is classified into muscle-invasive bladder cancer (MIBC) and non-muscle-invasive bladder cancer (NMIBC). NMIBC (T1, Ta, Tis), accounting for approximately 75% of new bladder cancer diagnoses, is limited to the mucosa, submucosa, and lamina propria. Studies have approximated the rate of recurrence in NMIBC between 50 - 70%, which sometimes progresses to muscle invasive disease. Management of NMIBC ranges from surveillance, intravesical chemotherapy to radical cystectomy (RC) and is dependent upon the TNM staging and grading of the tumor. Clinically, staging is determined via imaging, physical exam, and histology on transurethral …

The Impact Of Racial Disparities And Outcomes On Urinary Anastomotic Leak In Radical Prostatectomy, Young Son, Benjamin A. Fink, Lance Earnshaw, Brian Thomas, Fred Okoye, Ryan Moriarty, Kathryn Goettle, Thomas Mueller

Rowan-Virtua Research Day

Prostate cancer is the leading malignancy and third most common cause of cancer death among men. In the United States, racial disparities exist in prostate cancer incidence and mortality rates. According to the National Cancer Institute, African American (AA) men have a significantly increased incidence of prostate cancer compared to Caucasians or Asians. Urinary leak at the urethrovesical anastomosis has been cited as a complication of radical prostatectomy (RP), with incidence rates as high as 23%. Urinary anastomotic leak is associated with increased rates of ileus, prolonged hospitalization rates, and longer time to achieve continence. The etiology of risk factors …

Management Of Late-Stage Ewingoid Dedifferentiated Liposarcoma Of The Spermatic Cord With Emergent Complications: A Case Report, Raeann Dalton, Abdullah Junayed, Brian Thomas, Young Son, Megan Donlick, Kathryn Goettle, Lance Earnshaw, Thomas Mueller

Rowan-Virtua Research Day

Liposarcoma (LS), a malignant tumor of adipose origin, is the most common soft tissue sarcoma (STS), and can develop within any soft tissue. It rarely occurs in the paratesticular region, and accounts for 3-7% of spermatic cord tumors. Dedifferentiated liposarcoma (DDLS) and well-differentiated liposarcoma (WDLS) account for two of the five subtypes of LS, with dedifferentiation occurring in 20% of cases. There have been 66 cases of DDLS of the spermatic cord reported to date, but none present with a 22/22q trisomy without the fusion or rearrangement that commonly produces these aggressive tumors.

Accurate diagnosis of LS of the spermatic …

A Clinical Study Of Venereal And Non Venereal Genital Dermatoses In Women, Lakkireddygari Sujana, Savitha L. Beergouder, Alekhya Rallapalli, Prasanthi Chidipudi, Sujatha Alla

Engineering Management & Systems Engineering Faculty Publications

Background: Any genital lesion or related symptoms are erroneously considered to be sexually transmitted as it is the most covered regions of the body and seems truly to be a forgotten pelvic organ it is the significant and important group of dermatological conditions may be associated with considerable morbidity, discomfort, and embarrassment. The most common conditions seen in a Dermatology Clinic are vulvar dermatoses, which comprise of lichen sclerosis, lichen planus, vulvar eczema, and psoriasis. Other conditions such as vulvar pain syndromes, vulvar disorders associated with systemic diseases, and blistering diseases are also seen.

Materials and Methods: This was a …

The Onset Of Exercise-Associated Hyponatremia And Individual Differences In Inappropriate Arginine Vasopressin Excretion: A Review Of Proposed Mechanisms, Michelle Stehman, Stephen A. Maris

Topics in Exercise Science and Kinesiology

Topics in Exercise Science and Kinesiology Volume 2: Issue 1, Article 10, 2021. Exercise-associated hyponatremia (EAH) has been reported to develop during endurance events such as triathlons and marathons. As these events become more popular, the incidence of developing EAH also increases. The development of EAH is commonly associated with the overconsumption of hypotonic fluids such as water and tends to be more prevalent in females. There is also evidence to suggest the inappropriate secretion of arginine vasopressin (AVP) leading to water retention may predispose an individual for developing EAH, especially when coupled with the overconsumption of fluids. Recent research …

Retrospective Analysis Of Post-Operative Sepsis Rates, Stone Composition, And Ureteral Stent Duration After Ureteroscopy And Laser Lithotripsy During Covid-19, Young Son, Julia T. Scali, Ian Madison, Paul Chialastri, Thomas Mueller

Rowan-Virtua Research Day

Ureteroscopy with laser lithotripsy is routinely used to remove stones but results in manipulation of the genitourinary mucosa and has a well-established relationship with post-operative sepsis under certain conditions. Postoperative sepsis represents a significant morbidity and mortality cost to patients and the healthcare system. Several studies to determine risk factors for sepsis after ureteroscopy have been completed. Such risk factors include positive preoperative urine cultures, female gender, prolonged preoperative stent time > 1 month, and patients with sepsis at the time of initial stenting. To improve sepsis rates, procedural alterations such as the use of disposable ureteroscopes have been introduced, as …

Kidney Rupture: An Unusual Cause Of Abdominal Pain, Flank Pain And Hematuria In A 72-Year-Old Female, Monica Diep, Neelesh Parikh

Rowan-Virtua Research Day

Flank pain, abdominal pain and hematuria are common complaints in emergency medicine. We describe the case of a 72-year-old female who presented to the emergency department for worsening left lower quadrant abdominal pain and left flank pain associated with new-onset hematuria. The patient reports the pain started immediately after she accidentally tripped on a rock while trying to avoid a mailman in an attempt to socially distance due to the COVID-19 pandemic, which resulted in a forceful twist of her body and catching herself with her hands without any direct impact to her body. The patient reports the pain gradually …

Effectiveness Of Physical Therapy Interventions For Women With Dysmenorrhea: A Systematic Review, Emily Hammond, Abigail Applegate, Emma Caldwell, Hayley Witmer, Amy Tremback-Ball

Student Research Poster Presentations 2021

Background and aims: Primary dysmenorrhea, or painful menstruation, is common in menstruating females. However, in some, it can cause intense pain, disrupt activities of daily living, and impact quality of life. The treatment of dysmenorrhea does not traditionally include physical therapy. A systematic review was conducted to explore the role of physical therapy in treating dysmenorrhea. Methods: A search was performed in August 2020 and January 2021 using EBSCOhost, Academic Search Ultimate, CINAHL Complete, and MEDLINE. Search terms included exercise or physical activity or fitness AND dysmenorrhea or menstrual pain or painful menstruation. Inclusion criteria were articles that were peer-reviewed, …

Validation Of An Endometrial Tumor Diameter Model For Risk Assessment In The Absence Of Lymph Node Mapping, Mckayla J. Riggs, Callie M. Cox Bauer, Caela R. Miller, James K. Aden, Scott A. Kamelle

Journal of Patient-Centered Research and Reviews

Purpose: This study aimed to assess the optimal tumor diameter for predicting lymphatic metastasis and to determine intraoperatively the need for lymph node dissection in patients with endometrioid endometrial cancer.

Methods: Military beneficiaries diagnosed with stage I–III endometrioid endometrial cancer during 2003–2016 who had at least 7 pelvic and/or paraaortic lymph nodes removed during the time of hysterectomy were studied. Tumor diameter was compared against the presence of positive nodes, using the prior models of 20 mm (ie, Mayo model) and 50 mm (ie, Milwaukee model), to determine the false-negative rate of each threshold. A separate analysis was completed to …

Amiodarone Induced Epididymo-Orchitis, Yaser Khalid, Neethi Dasu, Sravan Panuganti, Stephen Daly

Rowan-Virtua Research Day

Amiodarone has a well-established and extensive side effect profile: pulmonary fibrosis, thyroid toxicity, corneal deposits, skin discoloration. However, in some rare instance, epididymitis/orchitis is a side effect of amiodarone. Amiodarone toxicity was first studied in (1, 2) Symptoms range from testicular pain to swelling and erythema (1,2) The mechanism of how this toxicity occurs is unknown. In this case report, we will discuss the case of an elderly patient who developed epididymitis and orchitis after several years of tolerating amiodarone without any adverse events. Our patient underwent a full workup with testicular ultrasound, evaluation by urology and cardiology specialists. Then …

Something Has Fallen: Pelvic Organ Prolapse Or Vaginal Cuff Dehiscence And Evisceration? A Case Report., Alexandra Nutaitis, Laurie Kane

Rowan-Virtua Research Day

="/">Learning Objectives: 1) Recognize late presenting complications of hysterectomy. 2) Include vaginal cuff dehiscence with evisceration (VCDE) in the differential diagnosis of women suspected of having acute pelvic organ prolapse (POP).3) Appreciate the relative rarity of VCDE in younger women.
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/="/">Case Summary: A 36 year old G0P0 female presented to the ED with a chief complaint of sudden onset excruciating epigastric pain, followed by diarrhea and visible vaginal bulge. Pertinent past medical and surgical history includes breast cancer diagnosed 15 months prior, status post bilateral mastectomy, radiation, chemotherapy, and robotic-assisted prophylactic hysterectomy and BSO 6 months prior. …

Dysmenorrhea Among High-School Students And It's Associated Factors In Kuwait, Sharefah Al-Matouq, Hessah Al-Mutairi, Ohood Al-Mutairi, Fatima Abdulaziz, Dana Al-Basri, Mona Al-Enzi, Abdullah Al-Taiar

Community & Environmental Health Faculty Publications

Background

Although dysmenorrhea is not a life-threatening condition, it can cause a substantial burden on individuals and communities. There is no data on the prevalence of dysmenorrhea in Kuwait. This study aimed to estimate the prevalence of dysmenorrhea among female public high-school students in Kuwait and investigate factors associated with dysmenorrhea.

Methods

A cross-sectional study using multistage cluster sampling with probability proportional to size method was conducted on 763 twelfth grade female public high-school students (aged 16–21 years). We used face-to-face interview with a structured questionnaire to collect data on dysmenorrhea and presumed risk factors. Weight and height of the …

The Copy Number Variation Landscape Of Congenital Anomalies Of The Kidney And Urinary Tract., Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-E-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, Simone Sanna-Cherchi

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, …