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renal agenesis

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https://www.readbyqxmd.com/read/29154793/trends-in-urologic-indications-for-pediatric-renal-transplantation-over-a-27-year-period-unos-database
#1
Pankaj Dangle, Utsav Bansal, Rajeev Chaudhry, Glenn M Cannon, Francis X Schneck, Michael C Ost
OBJECTIVE: To elucidate the trends in urological causes for renal transplant in the pediatric population using a national database. Little is known about the specific pediatric urologic conditions and resultant trends that precede renal transplantation. MATERIAL AND METHODS: We reviewed the United Network for Organ Sharing (UNOS) database for pediatric patients (<18 years old) who underwent renal transplantation from January 1988- September 2015. We included those patients who received a renal transplant due to a urologic condition...
November 14, 2017: Urology
https://www.readbyqxmd.com/read/29122828/referrals-to-a-perinatal-specialist-palliative-care-consult-service-in-ireland-2012-2015
#2
Des L McMahon, Marie Twomey, Maeve O'Reilly, Mary Devins
OBJECTIVE: To analyse the referral patterns of perinatal patients referred to a specialist palliative care service (SPCS), their demographics, diagnoses, duration of illness, place of death and symptom profile. DESIGN: A retrospective chart review of all perinatal referrals over a 4-year period to the end of 2015. SETTING: A consultant-led paediatric SPCS at Our Lady's Children's Hospital, Crumlin, Dublin, and the Coombe Women & Infants University Hospital, Dublin...
November 9, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29120500/oral-healthcare-in-fraser-syndrome
#3
Y Hassona, H Kharoub, C Scully
Fraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis. Oral manifestations are sparsely described in the literature, and patients with this syndrome might require special dental management considerations because of the associated cardiac, renal, and cognitive defects. In this report, we describe the oral/dental findings in a 22-year-old girl with Fraser syndrome, and discuss the dental management.
November 9, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#4
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29108145/framing-the-conversation-for-exploring-innovative-techniques-in-therapy-the-example-of-bilateral-renal-agenesis
#5
William Polzin
No abstract text is available yet for this article.
2017: Issues in Law & Medicine
https://www.readbyqxmd.com/read/29103260/-seminal-vesicle-abscess-associated-with-zinner-syndrome
#6
Sohei Kuribayashi, Go Tanigawa, Yohei Okuda, Masataka Kawamura, Nozomu Kishimoto, Kentaro Takezawa, Koichi Tsutahara, Tetsuya Takao, Seiji Yamaguchi
We report a case of seminal vesicle abscess associated with Zinner syndrome. A 26-year-old male was admitted to our hospital because of fever and right scrotal swelling. Ultrasound showed an enlarged epididymis and color Doppler ultrasound showed increased vascularity in the epididymis. We diagnosed the case as acute epididymitis and started intravenous antibiotic therapy. Four days after admission, remittent fever persisted and blood culture was positive for Staphylococcus aureus. We performed computed tomography, which showed a right seminal vesicle cyst abscess and right renal agenesis...
October 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/29100091/mutations-in-greb1l-cause-bilateral-kidney-agenesis-in-humans-and-mice
#7
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29100090/exome-wide-association-study-identifies-greb1l-mutations-in-congenital-kidney-malformations
#8
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna-Materna Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29094488/maternal-report-of-fever-from-cold-or-flu-during-early-pregnancy-and-the-risk-for-noncardiac-birth-defects-national-birth-defects-prevention-study-1997-2011
#9
Dorothy Kim Waller, Syed Shahrukh Hashmi, Adrienne T Hoyt, Hao T Duong, Sarah C Tinker, Michael Shayne Gallaway, Richard S Olney, Richard H Finnell, Jacqueline Tauber Hecht, Mark A Canfield
BACKGROUND: As maternal fever affects approximately 6-8% of early pregnancies, it is important to expand upon previous observations of an association between maternal fever and birth defects. METHODS: We analyzed data from the National Birth Defects Prevention Study, a multistate, case-control study of major structural birth defects. Telephone interviews were completed by mothers of cases (n = 17,162) and controls (n = 10,127). Using multivariable logistic regression, we assessed the association between maternal self-report of cold or flu with fever and cold or flu without fever during early pregnancy and 30 categories of non-cardiac birth defects...
November 2, 2017: Birth defects research
https://www.readbyqxmd.com/read/29089677/unilateral-renal-agenesis-with-subseptate-uterus-and-sacrococcygeal-teratoma-a-unique-triad
#10
Muhammad S Ahmed, Sheeza Imtiaz, Hina Pathan, Rahila Usman
Unilateral renal agenesis (URA) is a rare condition with a reported incidence of 0.93-1.8 per 1000 autopsies. It is commonly diagnosed as an incidental finding on imaging. URA is frequently associated with other genitourinary anomalies. Different associations have been described in both males and females, however, to our knowledge, it has not been reported with subseptate uterus (SSU) and sacrococcygeal teratoma (SCT) in the same individual. Here, we present a unique case of URA with SSU and SCT.
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29079659/novel-insights-into-the-pathogenesis-of-monogenic-congenital-anomalies-of-the-kidney-and-urinary-tract
#11
Amelie T van der Ven, Asaf Vivante, Friedhelm Hildebrandt
Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients...
October 27, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29072675/outcomes-of-prenatally-diagnosed-solitary-functioning-kidney-during-early-life
#12
M Davidovits, R Cleper, N Eizenberg, O Hocherman, R Mashiach
OBJECTIVE: To evaluate outcomes of congenital solitary functioning kidney (SFK) in early childhood. STUDY DESIGN: A retrospective study of 32 children diagnosed in utero with SFK owing to unilateral renal agenesis or multicystic dysplastic kidney and followed for 1 to 11.5 years. RESULTS: SFK length was in the compensatory hypertrophy range in 45% of fetal sonographic evaluations from mid-pregnancy, and in 85% on postnatal follow-up. Glomerular filtration rate was below normal range in 44...
October 26, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29064654/an-unusual-presentation-of-urethral-duplication-presenting-with-chronic-bladder-retention-left-scrotal-transposition-and-left-renal-agenesis
#13
Antonio Macedo, Marcela Leal da Cruz, João Luiz Gomes Parizi, Gustavo Marconi Caetano Martins, Riberto Liguori, Sérgio Leite Ottoni, Bruno Leslie, Gilmar Garrone
INTRODUCTION AND OBJECTIVE: Urethral duplication is a rare congenital anomaly, with roughly 200 cases reported in the literature (1). It is more frequent in males, with few cases reported in females. The clinical presentation differs according to the anatomical variant present. The duplication most commonly occurs in the sagittal plane with one urethra located ventrally and the other dorsally (2). Usually the ventral urethra is the more functional of both. Duplications occurring in the coronal plane are quite rare and they are usually associated with bladder duplication (3)...
October 24, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29030159/obstructive-m%C3%A3-llerian-anomalies-in-menstruating-adolescent-girls-a-report-of-22-cases
#14
Karina Kapczuk, Zbigniew Friebe, Kinga Iwaniec, Witold Kędzia
STUDY OBJECTIVE: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche DESIGN: A retrospective case series of adolescents who between 2009 and 2016 were treated for vaginal or uterine obstructive malformations diagnosed after menarche SETTING: Division of Gynecology, Poznań University of Medical Sciences, Poznań, Poland PARTICIPANTS: Twenty-two patients who, at the age of 11.4-18.2 (median 13.1) years, between 2 and 74 (median 7.5) months after menarche, underwent surgical repair of obstructive genital anomaly MAIN OUTCOME MEASURES: Müllerian defect type, presentation, radiologic findings, pre- and postoperative course RESULTS: Eighteen patients (81...
October 10, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29023893/analysis-of-renal-blood-flow-and-renal-volume-in-normal-fetuses-and-in-fetuses-with-a-solitary-functioning-kidney
#15
An Hindryckx, Anke Raaijmakers, Elena Levtchenko, Karel Allegaert, Luc De Catte
OBJECTIVE: To evaluate renal blood flow and renal volume for the prediction of postnatal renal function in fetuses with solitary functioning kidney (SFK). METHODS: Seventy-four SFK fetuses (unilateral renal agenesis [12], multicystic dysplastic kidney [36], and severe renal dysplasia [26]) were compared with 58 healthy fetuses. Peak systolic velocity (PSV), pulsatility index (PI), and resistance index (RI) of the renal artery (RA) were measured; 2D and 3D (VOCAL) volumes were calculated...
October 10, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29016431/incidence-of-congenital-spinal-abnormalities-among-pediatric-patients-and-their-association-with-scoliosis-and-systemic-anomalies
#16
Peter G Passias, Gregory W Poorman, Cyrus M Jalai, Bassel G Diebo, Shaleen Vira, Samantha R Horn, Joseph F Baker, Kartik Shenoy, Saqib Hasan, John Buza, Wesley Bronson, Justin C Paul, Ian Kaye, Norah A Foster, Ryan T Cassilly, Jonathan H Oren, Ronald Moskovich, Breton Line, Cheongeun Oh, Shay Bess, Virginie LaFage, Thomas J Errico
BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems...
October 9, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28979012/focal-dermal-hypoplasia-goltz-syndrome-a-cross-sectional-study-from-eastern-india
#17
Sudip Kumar Ghosh, Abhijit Dutta, Sharmila Sarkar, Shanka Subhra Nag, Surajit Kumar Biswas, Prabhakar Mandal
INTRODUCTION: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome. METHOLOGY: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India...
September 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28968868/international-multi-centre-study-of-pregnancy-outcomes-with-interleukin-1-inhibitors
#18
Taryn Youngstein, Patrycja Hoffmann, Ahmet Gül, Thirusha Lane, Rene Williams, Dorota M Rowczenio, Huri Ozdogan, Serdal Ugurlu, John Ryan, Len Harty, Sean Riminton, Alex P Headley, Joachim Roesler, Norbert Blank, Jasmin B Kuemmerle-Deschner, Anna Simon, Adrian S Woolf, Philip N Hawkins, Helen J Lachmann
Objective: To provide outcome data concerning pregnancies exposed to the Interleukin-1 (IL-1) inhibitors prior to conception in both men and women, during pregnancy and breast feeding. Methods: Retrospective data were collected from members of the International Society for Systemic Autoinflammatory diseases and collated in a single centre. A uniform data collection sheet was used to obtain standardized data including maternal age and diagnosis, type, duration of and response to IL-1 blockade, pregnancy duration, delivery, mode of feeding and neonatal development...
August 23, 2017: Rheumatology
https://www.readbyqxmd.com/read/28944335/successful-management-without-protective-colostomy-in-an-adult-patient-with-anorectal-mal-formation
#19
Cengiz Tavusbay, Hüdai Genç, İrfan Karaca, Kemal Atahan, Mehmet Hacıyanlı, Erdal Türk
Anorectal malformations are rare occurrences characterized by the absence or abnormal localization of the anus. Clinical manifestations can vary from mild forms that require only minor surgery to more complicated cases that must be managed with multi-staged surgery. In this report, our aim is to present the clinical characteristics, management, and treatment outcome of an adult patient with an anorectal malformation with a vestibular fistula that was successfully repaired by posterior sagittal anorectoplasty (PSARP) and to discuss the case in the light of the relevant literature...
2017: Turk J Surg
https://www.readbyqxmd.com/read/28878612/whole-exome-sequencing-reveals-fat4-mutations-in-a-clinically-unrecognizable-patient-with-syndromic-cakut-a-case-report
#20
Amelie T van der Ven, Shirlee Shril, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Kristen M Laricchia, Monkol Lek, Velibor Tasic, Friedhelm Hildebrandt
We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature...
August 2017: Molecular Syndromology
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