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renal agenesis

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https://www.readbyqxmd.com/read/28439388/herlyn-werner-wunderlich-syndrome-with-ureteric-remnant-abscess-managed-laparoscopically-a-case-report
#1
Aurus Dourado Meneses, Walberto Monteiro Neiva Eulálio Filho, Débora Maria Ribeiro Raulino, Eduardo Bruno Lobato Martins, Sabas Carlos Vieira
Herlyn-Werner-Wunderlich (HWW) syndrome is part of a spectrum of Müllerian duct anomalies that occur during embryonic development. The syndrome is characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Only few cases of this disease were reported worldwide. We present a 23-year-old female patient with chronic pelvic pain for years. The patient was diagnosed with HWW syndrome with a history of hematocolpos and vaginoplasty at the age of 12. Five months later, she sought urgent medical care due to intense pain, and a clinical picture suggestive of peritoneal irritation...
March 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/28436605/digeorge-like-syndrome-in-a-child-with-a-3p12-3-deletion-involving-mir4273-gene-born-to-a-mother-with-gestational-diabetes-mellitus
#2
Emilia Cirillo, Giuliana Giardino, Vera Gallo, Giovanni Galasso, Roberta Romano, Roberta D'Assante, Giulia Scalia, Luigi Del Vecchio, Lucio Nitsch, Rita Genesio, Claudio Pignata
Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS. In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. Recently, it has been reported that at least part of the TBX1 mutant phenotype is due to excessive bone morphogenetic proteins (BMP) signaling. Evidence suggests that miRNA may modulate the expression of critical T-box transcriptional regulators during midface development and Bmp-signaling...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28407634/minimally-invasive-approach-for-treatment-of-seminal-vesicle-cyst-associated-with-ipsilateral-renal-agenesis
#3
Eyal Kord, Amnon Zisman, Abd Elhalim Darawsha, Nasib Dally, Paul H Noh, Amos Neheman
OBJECTIVES: We reviewed the clinical presentation and approach for the treatment of symptomatic seminal vesicle cyst associated with ipsilateral renal agenesis while presenting our experience with a series of 5 patients treated with minimally invasive surgery for Zinner syndrome. MATERIALS AND METHODS: Between the years 2008 and 2016, we operated on 5 patients who presented with symptomatic seminal vesicle cyst and ipsilateral renal agenesis. Patients' charts and medical records were reviewed and compared with past published minimally invasive series...
April 14, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/28396109/association-of-unilateral-renal-agenesis-with-adverse-outcomes-in-pregnancy-a-matched-cohort-study
#4
Jessica Kendrick, John Holmen, Zhiying You, Gerard Smits, Michel Chonchol
BACKGROUND: Data regarding the effect of a solitary kidney during pregnancy have come from studies of living kidney donors. We evaluated the risk for adverse pregnancy outcomes in women with a single kidney from renal agenesis. STUDY DESIGN: Matched cohort study. SETTING & PARTICIPANTS: Using data from 7,079 childbirths from an integrated health care delivery system from 1996 through 2015, we identified births from women with renal agenesis...
April 7, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28390944/congenital-unilateral-fallopian-tube-and-renal-agenesis-in-a-patient-with-primary-infertility
#5
Nigel Pereira, Joshua D Stewart, Alexis P Melnick
The current case highlights the radiologic and hysteroscopic findings of congenital unilateral fallopian tube and renal agenesis in a patient with primary infertility.
April 5, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28386509/successful-treatment-of-recurrent-pulmonary-mucormycosis-in-a-renal-transplant-patient-a-case-report-and-literature-review
#6
Morgan S Martin, Alison A Smith, Monica Lobo, Anil S Paramesh
Background. We describe the unusual case of a recently transplanted cadaveric renal transplant recipient who presented with recurrent pulmonary mucormycosis. Case Report. An 18-year-old man with end stage renal disease secondary to congenital renal agenesis status after cadaveric kidney transplant 4 months before presented with acute onset of fever, hemoptysis, and back pain. The patient underwent an emergent left lower lobectomy due to the critical nature of his illness. He was also treated with amphotericin with resolution of his symptoms...
2017: Case Reports in Transplantation
https://www.readbyqxmd.com/read/28376421/congenital-absence-of-vas-deferens-and-ectopic-kidney
#7
Alobaidi Salwan, Alhmooze Abdelrahman
INTRODUCTION: Congenital absence of the vas deferens (CUAVD) is a rare clinical entity, usually discovered accidently during surgical procedures of the urogenital zone, CUAVD has the prevalence of 0.5-1.0% in male population and it is associated with various forms of congenital genitourinary malformations like renal agenesis. we present a case of a 21 years old, male, managed in our private hospital for varicoceles and discovered to have CUAVD and ectopic kidney. PRESENTATION OF CASE: A 21 years old male, with no significant medical or surgical history presented to our out-patient clinic complaining of scrotal heaviness and pain...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28344607/locally-advanced-adenocarcinoma-of-the-cervix-on-uterus-didelphys-a-case-report
#8
Abel Cordoba, Alexandre Escande, Pauline Comte, Ingrid Fumagalli, Lucie Bresson, Ndaye Mubiayi, Eric Lartigau
In November 2013, a woman with Herlyn-Werner-Wunderlich (HWW) syndrome was diagnosed with a locally advanced left cervical adenocarcinoma. The patient's malformation consisted of two uteri with two cervixes, a obstructed vagina, and a left renal agenesis. Classification FIGO: stage IIIa because of infiltration of the inferior third of the vagina wall. Locoregional management comprised an infrarenal lateral aortic lymphadenectomy followed by concomitant radio-chemotherapy to the pelvic (inguinal, pelvic, and infrarenal para aortic nodes) volumes...
February 2017: Journal of Contemporary Brachytherapy
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#9
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28303733/bi-parametric-magnetic-resonance-imaging-applied-to-obstetrics
#10
Lucia Manganaro, Valeria Vinci, Antonella Giancotti, Sandro Gerli, Denis A Cozzi, Teresa Pusiol, Michele Scialpi, Luca Roncati
Foetal magnetic resonance imaging (MRI) plays an increasingly important role in the diagnosis of foetal abnormalities. Over the years, we have successfully applied bi-parametric MRI (bp-MRI) to the following obstetric conditions: (1) neurologic vascular diseases; (2) assessment of lung parenchyma maturation; (3) renal pathologies, such as polycystic kidney, suspected renal infarction, unilateral or bilateral renal agenesis; (4) placental pathologies, as twin-twin transfusion syndrome or placenta accreta; (5) benignant and malignant congenital tumours or cysts of the liver, such as haemangioendothelioma, hepatoblastoma or metastatic neuroblastoma, of the kidney (e...
March 17, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28287880/does-the-serum-uric-acid-level-have-any-relation-to-arterial-stiffness-or-blood-pressure-in-adults-with-congenital-renal-agenesis-and-or-hypoplasia
#11
Raziye Yazici, İbrahim Guney, Lutfullah Altintepe, Mehmet Yazici
BACKGROUND: The relationship between serum uric acid and arterial stiffness or blood pressure is not clear. The serum uric acid level and its association with cardiovascular risk is not well known in patients with reduced renal mass. We aimed to investigate the relation between serum uric acid levels and arterial stiffness and also blood pressure in patients with congenital renal agenesis and/or hypoplasia. MATERIAL AND METHODS: In this single center, cross-sectional study, a total of 55 patients (39 (% 70...
2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28278526/-acute-kidney-failure-due-to-urachal-cyst
#12
I Klaassen, M Wolf, M J Kemper, S Riechardt, M Boettcher, J Herrmann, D Singer
A 34-year-old para V woman was referred to our centre at 35+1 weeks of gestation for an assumed fetal malformation with prenatal renal impairment and anhydramnios. Prenatal ultrasound demonstrated unilateral renal agenesis; the bladder was not detectable. The baby was born by caesarian section at 36+2 weeks of gestation because of placental insufficiency. Postnatal adaptation was uneventful, but the newborn presented external stigmas of trisomy 21 and progressive renal impairment with anuria. Nevertheless, the postnatal ultrasound showed two enlarged kidneys in loco typico with impaired perfusion but without signs of malformations...
March 9, 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#13
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28263220/ectopic-pelvic-fibroid-in-a-woman-with-uterine-agenesis-and-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#14
Thelina Amaratunga, Iain Kirkpatrick, Yi Yan, Fern Karlicki
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder characterized by aplasia or hypoplasia of the uterus and vagina due to arrest in the development of the müllerian ducts. Women with this syndrome have the normal 46 XX karyotype, normal female secondary sex characteristics, and primary amenorrhea. Only a few cases have been described in the literature where a fibroid develops from a rudimentary, nonfunctioning uterus in patients with MRKH syndrome. In even rarer instances, a fibroid can develop in patients with a congenitally absent uterus...
March 3, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28258603/incidence-of-an-aberrant-right-subclavian-artery-on-second-trimester-sonography-in-an-unselected-population
#15
Selen Gursoy Erzincan, Burcin Karamustafaoglu Balci, Cengiz Tokgoz, Ibrahim Halil Kalelioglu
OBJECTIVES: The aim of this study was to assess the incidence of an aberrant right subclavian artery (ARSA) among an unselected population during second-trimester sonography and to review the importance of this conotruncal variant as a marker of Down syndrome. METHODS: The presence or absence of an ARSA was assessed in an unselected population of 1913 second-trimester fetuses. RESULTS: Among the 1913 patients, an ARSA was detected in 20 fetuses (1...
May 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28228879/zinner-syndrome-diagnosed-by-magnetic-resonance-imaging-and-computed-tomography-role-of-imaging-to-identify-and-evaluate-the-uncommon-variation-in-development-of-the-male-genital-tract
#16
V Fiaschetti, L Greco, V Giuricin, D De Vivo, E Di Caprera, R Di Trapano, F Castellani, R Floris
Seminal vesicle cysts are a very rare condition and its often associated with ipsilateral renal agenesis. The diagnosis of seminal vesicle cysts may be delayed or missed because of the non-specific symptoms of this condition. This article reports a triad of right renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction (Zinner syndrome) in a 56 years old man.
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28222038/evidence-based-ethically-justified-counseling-for-fetal-bilateral-renal-agenesis
#17
Alana N Thomas, Laurence B McCullough, Frank A Chervenak, Frank X Placencia
BACKGROUND: Not much data are available on the natural history of bilateral renal agenesis, as the medical community does not typically offer aggressive obstetric or neonatal care asbilateral renal agenesis has been accepted as a lethal condition. AIM: To provide an evidence-based, ethically justified approach to counseling pregnant women about the obstetric management of bilateral renal agenesis. STUDY DESIGN: A systematic literature search was performed using multiple databases...
February 21, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28208931/pseudo-exstrophy-of-bladder-with-unilateral-renal-agenesis-a-rare-combination-of-two-anomalies
#18
Abdolhamid Amouei, Mohammad Baghi Yazdi, Fatemeh Ehsani, Mojtaba Babaei Zarch
Pseudo-exstrophy of bladder is an uncommon condition characterized by the major musculoskeletal defects without urinary system defects. A two-day-old female neonate was presented with pseudo-exstrophy of the bladder and unilateral renal agenesis- A rare combination of two anomalies. She was born at 37 weeks gestational age with caesarean section delivery. The X-ray of hip revealed pubic diastasis. Ultrasonography clearly showed absence of the left kidney with a normal right kidney. The patient was treated successfully with proper surgical management...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203451/case-report-a-rare-cause-of-complicated-urinary-tract-infection-in-a-woman-with-herlyn-werner-wunderlich-syndrome
#19
Jun-Li Tsai, Shang-Feng Tsai
INTRODUCTION: Urinary tract infection is a common disease in the general population. However, in patients with frequent urinary tract infection, it is important to determine any treatable cause to avoid recurrence. CASE PRESENTATION: Herlyn-Werner-Wunderlich syndrome or OHVIRA syndrome is a very rare congenital anomaly with uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The earliest presentation of this syndrome is hematocolpos that develops during menstruation and results in dysmenorrhea and a pelvic mass shortly after menarche...
November 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28161315/renal-development-in-the-fetus-and-premature-infant
#20
REVIEW
Stacy Rosenblum, Abhijeet Pal, Kimberly Reidy
Congenital abnormalities of the kidney and urinary tract (CAKUT) are one of the leading congenital defects to be identified on prenatal ultrasound. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. CAKUT are a major contributor to chronic and end stage kidney disease (CKD/ESKD) in children. Prenatal imaging is useful to identify CAKUT, but will not detect all defects. Both genetic abnormalities and the fetal environment contribute to CAKUT. Monogenic gene mutations identified in human CAKUT have advanced our understanding of molecular mechanisms of renal development...
April 2017: Seminars in Fetal & Neonatal Medicine
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