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congenital renal

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https://www.readbyqxmd.com/read/28431661/hwang-jh-do-ys-park-kb-chung-hh-park-hs-hyun-d-embolization-of-congenital-renal-arteriovenous-malformations-using-ethanol-and-coil-depending-on-angiographic-types-j-vasc-interv-radiol-2017-28-64-70
#1
(no author information available yet)
No abstract text is available yet for this article.
May 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28430913/prediction-of-adverse-events-after-catheter-based-procedures-in-adolescents-and-adults-with-congenital-heart-disease-in-the-impact-registry
#2
Ada C Stefanescu Schmidt, Aimee Armstrong, Kevin F Kennedy, David Nykanen, Jamil Aboulhosn, Ami B Bhatt
Aims: We sought to identify factors associated with major adverse events (MAE) after cardiac catheterization in adolescents and adults with congenital heart disease (CHD), and create the first model to individualize risk discussions in this growing population. Methods and results: Improving Pediatric and Adult Congenital Treatment (IMPACT), a National Cardiovascular Data Registry, contains congenital catheterization data from over 87 hospitals in the United States...
April 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28426529/diagnostic-utility-of-pax8-pax2-and-ngfr-immunohistochemical-expression-in-pediatric-renal-tumors
#3
Nicoleta C Arva, Jeffrey Bonadio, Elizabeth J Perlman, Mariana M Cajaiba
Pediatric renal tumors (PRT) with small round blue or spindle cell morphology can be diagnostically challenging and only a limited number of immunohistochemical markers have been documented to help in the diagnosis: paired box (Pax) 2 and nerve growth factor receptor (NGFR) positivity have been demonstrated in Wilms tumor (WT) and clear cell sarcoma of the kidney (CCSK), respectively. However, the immunohistochemical expression of these markers in other PRT remains unknown. This study investigated Pax8, Pax2, and NGFR immunophenotype in a large series of PRT...
April 19, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28422942/development-of-tandem-mass-spectrometry-based-creatinine-measurement-using-dried-blood-spot-for-newborn-mass-screening
#4
Masaru Nakano, Osamu Uemura, Masataka Honda, Tetsuya Ito, Yoko Nakajima, Shinji Saitoh
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent etiology of pediatric chronic kidney disease (CKD). However, no robust mass screening methods have been developed to detect patients with CAKUT, making early intervention to prevent progressive renal failure challenging. METHODS: We applied tandem mass spectrometry (MS/MS) to measure the creatinine (Cr) value from dried blood spot (DBS) analysis, which has been used for newborn mass screening...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28417852/nuclear-medicine-in-pediatric-nephro-urology-an-overview
#5
REVIEW
Iosif Mendichovszky, Bernardita Troncoso Solar, Naima Smeulders, Marina Easty, Lorenzo Biassoni
In the context of ante-natally diagnosed hydronephrosis, the vast majority of children with a dilated renal pelvis do not need any surgical treatment, as the dilatation resolves spontaneously with time. Slow drainage demonstrated at Tc-99m-mercaptoacetyltriglycine (MAG3) renography does not necessarily mean obstruction. Obstruction is defined as resistance to urinary outflow with urinary stasis at the level of the pelvic-ureteric junction (PUJ) which, if left untreated, will damage the kidney. Unfortunately this definition is retrospective and not clinically helpful...
May 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28413896/congenital-malformations-palliative-care-and-postnatal-redirection-to-more-intensive-treatment-a-review-at-a-swiss-tertiary-center
#6
Ulrich Pfeifer, Deborah Gubler, Eva Bergstraesser, Dirk Bassler
PURPOSE: The so-called lethal malformations pose ethical challenges. Most affected fetuses die before or at birth. Live-born neonates commonly receive palliative care. If the postnatal course is better than expected, redirection towards more treatment may occur. We aimed to analyze this in a Swiss patient cohort. MATERIALS AND METHODS: Over 6 years, fetal malformation was suspected in 1113 cases. We identified patients prenatally assigned to palliative care, assessed pre- and postnatal diagnoses, and outcomes...
April 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28407819/-association-between-fluid-overload-and-acute-renal-injury-after-congenital-heart-disease-surgery-in-infants
#7
De-Qiang Luo, Zi-Li Chen, Wei Dai, Feng Chen
OBJECTIVE: To study the association between fluid overload and acute kidney injury (AKI) after congenital heart disease surgery in infants. METHODS: A retrospective analysis was performed on 88 infants aged less than 6 months who underwent a radical surgery for congenital heart disease. The treatment outcomes were compared between the infants with AKI after surgery and those without. The effect of cumulative fluid overload on treatment outcomes 2 days after surgery was analyzed...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28403058/multiorgan-involvement-confounding-the-diagnosis-of-bartonella-henselae-infective-endocarditis-in-children-with-congenital-heart-disease
#8
Christopher P Ouellette, Sarita Joshi, Karen Texter, Preeti Jaggi
Two children with congenital heart disease status post surgical correction presented with prolonged constitutional symptoms, hepatosplenomegaly and pancytopenia. Concern for malignancy prompted bone marrow biopsies that were without evidence thereof. In case 1, echocardiography identified a multilobulated vegetation on the conduit valve. In case 2, transthoracic, transesophageal and intracardiac echocardiography were performed and were without evidence of cardiac vegetations; however, pulmonic emboli raised concern for infective endocarditis...
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28398236/genetics-of-congenital-anomalies-of-the-kidney-and-urinary-tract-the-current-state-of-play
#9
REVIEW
Valentina P Capone, William Morello, Francesca Taroni, Giovanni Montini
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of malformation at birth and represent the cause of 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. The pathogenesis of CAKUT is based on the disturbance of normal nephrogenesis, secondary to environmental and genetic causes. Often CAKUT is the first clinical manifestation of a complex systemic disease, so an early molecular diagnosis can help the physician identify other subtle clinical manifestations, significantly affecting the management and prognosis of patients...
April 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28390944/congenital-unilateral-fallopian-tube-and-renal-agenesis-in-a-patient-with-primary-infertility
#10
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
#11
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/28381549/a-dominant-mutation-in-nuclear-receptor-interacting-protein-1-causes-urinary-tract-malformations-via-dysregulation-of-retinoic-acid-signaling
#12
Asaf Vivante, Nina Mann, Hagith Yonath, Anna-Carina Weiss, Maike Getwan, Michael M Kaminski, Tobias Bohnenpoll, Catherine Teyssier, Jing Chen, Shirlee Shril, Amelie T van der Ven, Hadas Ityel, Johanna Magdalena Schmidt, Eugen Widmeier, Stuart B Bauer, Simone Sanna-Cherchi, Ali G Gharavi, Weining Lu, Daniella Magen, Rachel Shukrun, Richard P Lifton, Velibor Tasic, Horia C Stanescu, Vincent Cavaillès, Robert Kleta, Yair Anikster, Benjamin Dekel, Andreas Kispert, Soeren S Lienkamp, Friedhelm Hildebrandt
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of CKD in the first three decades of life. However, for most patients with CAKUT, the causative mutation remains unknown. We identified a kindred with an autosomal dominant form of CAKUT. By whole-exome sequencing, we identified a heterozygous truncating mutation (c.279delG, p.Trp93fs*) of the nuclear receptor interacting protein 1 gene (NRIP1) in all seven affected members. NRIP1 encodes a nuclear receptor transcriptional cofactor that directly interacts with the retinoic acid receptors (RARs) to modulate retinoic acid transcriptional activity...
April 5, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28376421/congenital-absence-of-vas-deferens-and-ectopic-kidney
#13
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/28368496/characterization-of-human-cytomegalovirus-genome-diversity-in-immunocompromised-hosts-by-whole-genomic-sequencing-directly-from-clinical-specimens
#14
E Hage, G S Wilkie, S Linnenweber-Held, A Dhingra, N M Suárez, J J Schmidt, P Kay-Fedorov, E Mischak-Weissinger, A Heim, A Schwarz, T F Schulz, A J Davison, T Ganzenmueller
Background: Advances in next-generation sequencing (NGS) technologies allow comprehensive studies of genetic diversity over the entire genome of human cytomegalovirus (HCMV), a significant pathogen for immunocompromised individuals. Methods: NGS was performed on target-enriched sequence libraries prepared directly from a variety of clinical specimens (blood, urine, breast-milk, respiratory samples, biopsies and vitreous humor) obtained longitudinally or from different anatomical compartments from 20 HCMV-infected patients (renal transplant recipients, stem cell transplant recipients and congenitally infected children)...
March 27, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28361230/acute-kidney-injury-and-fluid-overload-in-infants-and-children-after-cardiac-surgery
#15
David M Kwiatkowski, Catherine D Krawczeski
Acute kidney injury is a common and serious complication after congenital heart surgery, particularly among infants. This comorbidity has been independently associated with adverse outcomes including an increase in mortality. Postoperative acute kidney injury has a complex pathophysiology with many risk factors, and therefore no single medication or therapy has been demonstrated to be effective for treatment or prevention. However, it has been established that the associated fluid overload is one of the major determinants of morbidity, particularly in infants after cardiac surgery...
March 30, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28359409/surgical-management-of-urinary-stones-with-abnormal-kidney-anatomy
#16
Giray Ergin, Mustafa Kirac, Ali Unsal, Burak Kopru, Mustafa Yordam, Hasan Biri
In spite of the fact that urologic surgical techniques used by urologists are becoming more and more minimally invasive and easier because of developing technologies, surgical approaches for the urinary stones in kidneys with abnormal anatomy are still confusing. The objective of this article is to determine the treatment options in these kidneys. For this purpose, between 2005 and 2015, we retrospectively evaluated patients operated for urolithiasis with various congenital renal anomalies in five referral urology clinics in our country...
April 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28352027/successful-cadaveric-transplantation-of-a-splitted-crossed-fused-disc-type-ectopic-kidney-to-two-patients-with-end-stage-renal-disease
#17
Reza Mahdavi Zafarghandi, Nasser Mogharabian, Akram Asadpour
Cadaveric donors with congenital renal anomalies are often refused because of technical difficulties. As the waiting periods for kidney transplants continue to increase, transplant centers need to consider them also as potential donors. This paper describes transplantation of a crossed fused disc type ectopic kidney to two patients with end-stage renal disease, after parenchymal transection. The transplants were successful with minimal complications, and the recipients had immediate graft function. It is now one year from transplantation, with excellent renal functions...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28351191/acute-kidney-injury-after-percutaneous-nephrolithotomy-for-stones-in-solitary-kidneys
#18
Ahmed R El-Nahas, Diaa-Eldin Taha, Hussien M Ali, Ahmed M Elshal, Mohamed H Zahran, Nasr A El-Tabey, Ahmed M El-Assmy, Ahmed M Harraz, Hazem E Moawad, Mahmoud M Othman
OBJECTIVES: The aim of this study was to report the incidence, severity, outcome and risk factors of acute kidney injury (AKI) following percutaneous nephrolithotomy (PNL) in solitary kidneys. METHODS: The study included consecutive adult patients who underwent PNL for treatment of calculi in a solitary kidney between May 2012 and July 2015. Patients with congenital renal anomalies or with stages 4 and 5 chronic kidney disease (CKD) were excluded. Serum creatinine levels were measured the day before PNL, daily after PNL for 2-5 days and after 3 months...
March 29, 2017: Scandinavian Journal of Urology
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#19
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28339907/o-linked-%C3%AE-n-acetylglucosamine-modification-of-proteins-is-essential-for-foot-process-maturation-and-survival-in-podocytes
#20
Shinya Ono, Shinji Kume, Mako Yasuda-Yamahara, Kosuke Yamahara, Naoko Takeda, Masami Chin-Kanasaki, Hisazumi Araki, Osamu Sekine, Hideki Yokoi, Masashi Mukoyama, Takashi Uzu, Shin-Ichi Araki, Hiroshi Maegawa
Background.: O-linked β- N -acetylglucosamine modification O-GlcNAcylation) is a post-translational modification of intracellular proteins, serving as a nutrient sensor. Growing evidence has demonstrated its physiological and pathological importance in various mammalian tissues. This study examined the physiological role of O-GlcNAcylation in podocyte function and development. Methods.: O-GlcNAc transferase (Ogt) is a critical enzyme for O-GlcNAcylation and resides on the X chromosome...
February 27, 2017: Nephrology, Dialysis, Transplantation
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