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https://www.readbyqxmd.com/read/28203451/case-report-a-rare-cause-of-complicated-urinary-tract-infection-in-a-woman-with-herlyn-werner-wunderlich-syndrome
#1
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/28190559/use-of-renal-near-infrared-spectroscopy-measurements-in-congenital-diaphragmatic-hernia-patients-on-ecmo
#2
Patricio E Lau, Stephanie Cruz, Joseph Garcia-Prats, Milenka Cuevas, Christopher Rhee, Darrell L Cass, Sarah E Horne, Timothy C Lee, Stephen E Welty, Oluyinka O Olutoye
INTRODUCTION: This study tests the hypothesis that renal tissue oxygen saturation as measured by Near Infrared Spectroscopy (NIRS) would correlate with urine output in neonates with congenital diaphragmatic hernia (CDH) on extracorporeal membrane oxygenation (ECMO). METHODS: Between 2012 and 2015, neonates with CDH were enrolled as part of a comprehensive study that provided renal/cerebral/abdominal NIRS monitoring for the duration of ECMO support. Continuous NIRS measurements, mean arterial pressure, and urine output were recorded...
January 27, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28188379/a-novel-mutation-of-laminin-%C3%AE-2-lamb2-in-two-siblings-with-renal-failure
#3
Farah A Falix, Carlien A M Bennebroek, Bert van der Zwaag, Ruth Lapid-Gortzak, Sandrine Florquin, Michiel J S Oosterveld
: This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c.970T>C p.(Cys324Arg) mutation in the LAMB2 gene affects one of the eight highly conserved cysteine residues within the first EGF-like module of the laminin β2 protein. These residues form disulfide bonds in order to achieve a correct 3D structure of the protein. The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18 months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity...
February 10, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28185787/progression-of-renal-fibrosis-in-congenital-ckd-model-rats-with-reduced-number-of-nephrons
#4
Hidenori Yasuda, Yuki Tochigi, Kentaro Katayama, Hiroetsu Suzuki
A congenital reduction in the number of nephrons is a critical risk factor for both onset of chronic kidney disease (CKD) and its progression to end-stage kidney disease (ESKD). Hypoplastic kidney (HPK) rats have only about 20% of the normal number of nephrons and show progressive CKD. This study used an immunohistological method to assess glomerular and interstitial pathogenesis in male HPK rats aged 35-210days. CD68 positive-macrophages were found to infiltrate into glomeruli in HPK rats aged 35 and 70days and to infiltrate into interstitial tissue in rats aged 140 and 210days...
February 6, 2017: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/28181337/deficiency-of-the-sphingosine-1-phosphate-lyase-sgpl1-is-associated-with-congenital-nephrotic-syndrome-and-congenital-adrenal-calcifications
#5
Andreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris Krainer, Lukas A Huber, Michael W Hess, Yaacov Frishberg, Hila Barash, Shay Tzur, Nira Schreyer-Shafir, Rivka Sukenik-Halevy, Tania Zehavi, Annick Raas-Rothschild, Cungui Mao, Thomas Müller
We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1 encoding sphingosine-1-phosphate lyase 1...
February 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28175995/pediatric-urolithiasis-associated-with-acute-gastroenteritis-an-inpatient-database-study-in-japan
#6
Masato Takeuchi, Hideo Yasunaga, Hiroki Matsui, Kiyohide Fushimi
: Pediatric urolithiasis associated with acute gastroenteritis (AGE) has not been systematically investigated, including its prevalence, risk estimate, and outcome. Using a national inpatient database in Japan, we searched for children (≤59 months old) who were hospitalized for AGE and those complicated by urolithiasis over a 24-month period. We found 23 cases of urolithiasis among 62,800 children who were hospitalized for AGE (3.7 cases/10,000 AGE admissions). AGE was associated with an increased risk of urolithiasis (odds ratio 2...
February 8, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28168731/statistical-methodology-for-estimating-the-mean-difference-in-a-meta-analysis-without-study-specific-variance-information
#7
Patarawan Sangnawakij, Dankmar Böhning, Stephen Adams, Michael Stanton, Heinz Holling
Statistical inference for analyzing the results from several independent studies on the same quantity of interest has been investigated frequently in recent decades. Typically, any meta-analytic inference requires that the quantity of interest is available from each study together with an estimate of its variability. The current work is motivated by a meta-analysis on comparing two treatments (thoracoscopic and open) of congenital lung malformations in young children. Quantities of interest include continuous end-points such as length of operation or number of chest tube days...
February 6, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28164035/proximal-ureteral-atresia-a-rare-congenital-anomaly-incidental-finding-a-case-report
#8
Cosimo Bleve, Maria Luisa Conighi, Lorella Fasoli, Valeria Bucci, Francesco Battaglino, Salvatore Fabio Chiarenza
Ureteral atresia is a rare disease usually associated with a non-functioning dysplastic kidney. The condition may be unilateral or bilateral; focal, short or long and may involve any part of the ureter. Association with other urinary anomalies is rare. We report the case of a 10-month-old boy with prenatal diagnosis of multicystic right kidney. This suspicion was confirmed after birth by ultrasound and static scintigraphy; a right vesicoureteral reflux (VUR) was recorded at cystography. The boy presented a regular renal function but was hospitalized twice for suspected pyelonephritis between the 8th and the 10th month of life and were recorded occasional mild changes in blood pressure...
January 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28161315/renal-development-in-the-fetus-and-premature-infant
#9
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...
February 1, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28143953/hemolytic-anemia-repressed-hepcidin-level-without-hepatocyte-iron-overload-lesson-from-g%C3%A3-nther-disease-model
#10
Sarah Millot, Constance Delaby, Boualem Moulouel, Thibaud Lefebvre, Nathalie Pilard, Nicolas Ducrot, Cécile Ged, Philippe Lettéron, Lucia de Franceschi, Jean Charles Deybach, Carole Beaumont, Laurent Gouya, Hubert De Verneuil, Saïd Lyoumi, Hervé Puy, Zoubida Karim
Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of hemoglobin into the bloodstream, but the mechanism of hemoglobin handling has not been fully elucidated. Here, in a congenital erythropoietic porphyria mouse model, we evaluate the impact of hemolysis and regenerative anemia on hepcidin synthesis and iron metabolism. Hemolysis was confirmed by a complete drop in haptoglobin, hemopexin and increased plasma lactate dehydrogenase, an increased red blood cell distribution width and osmotic fragility, a reduced half-life of red blood cells, and increased expression of heme oxygenase 1...
February 2017: Haematologica
https://www.readbyqxmd.com/read/28137351/congenital-mesoblastic-nephroma-presenting-with-refractory-hypertension-in-a-premature-neonate-a-case-study
#11
Tracey Robertson-Bell, Desi M Newberry, Amy J Jnah, Stephen D DeMeo
The most common nonencapsulated solid renal tumor in the neonatal period is congenital mesoblastic nephroma. Mesoblastic nephroma is a solid lesion originating within or extending from the renal parenchyma. These tumors proliferate rapidly, typically within 3-6 months after birth. Mesoblastic nephromas are stratified by classification as either classical (benign) or atypical (malignant); masses composed of both benign and malignant cells are also reported. The hallmark clinical manifestation of mesoblastic nephroma is a palpable abdominal mass, which may be accompanied by hypertension, hypercalcemia, hematuria, and polyuria...
January 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28132691/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#12
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28124468/congenital-mesoblastic-nephroma-50-years-after-its-recognition-a-narrative-review
#13
S L Gooskens, M E Houwing, G M Vujanic, J S Dome, T Diertens, A Coulomb-l'Herminé, J Godzinski, K Pritchard-Jones, N Graf, M M van den Heuvel-Eibrink
Congenital mesoblastic nephroma (CMN) is a rare pediatric renal tumor with low malignant potential that most commonly occurs early in infancy. Treatment strategies are based on the few published CMN series, while a significant number of CMN patients have been described in case reports. The aim of this narrative review was to create an up-to-date overview of the literature. Complete surgical removal is curative in most cases. The risk of treatment-related mortality (both surgery- and chemotherapy-related) is relatively high in the first weeks of life, indicating that these young patients deserve special attention with respect to timing and type of treatment...
January 26, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28121514/genetic-drivers-of-kidney-defects-in-the-digeorge-syndrome
#14
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers, David A Fasel, Katarina Vukojevic, Rong Deng, Silvia E Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S Makar, Monica Bodria, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S Petrey, Barry Honig, Vladimir J Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M McDonald-McGinn, Terrence B Crowley, Elaine H Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L Furth, Bradley A Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P Lifton, Bernice E Morrow, Cecile Jeanpierre, Virginia E Papaioannou, Gian Marco Ghiggeri, Ali G Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi
Background The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. Methods We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies...
25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28112331/-detection-of-parainfluenza-virus-in-immunocompromised-and-immunocompetent-patients-in-a-tertiary-hospital-in-sao-paulo-brazil
#15
Sheila N Parmezan, Clarice Camargo, Aripuanã Watanabe, Patricio Godoy-Martínez, Celso Granato, Nancy Bellei
Parainfluenza virus infections (PIV) were evaluated in patients with mild and severe infections through real time PCR. One thousand and sixty-seven samples were collected from subjects as follows: 233 adult renal transplanted outpatients, 129 children with congenital heart disease, 381 with adult hematopoietic stem cell patients and 324 hospitalized patients suspected of influenza A (H1N1) pdm09 infection. PIV was detected in 74 (6.9%) samples. VPI-3 was the most frequent (60.8%) and a higher risk was observed for older adults (p = 0...
October 2016: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
https://www.readbyqxmd.com/read/28108282/hyperfiltration-associated-biomechanical-forces-in-glomerular-injury-and-response-potential-role-for-eicosanoids
#16
REVIEW
Mukut Sharma, Ram Sharma, Ellen T McCarthy, Virginia J Savin, Tarak Srivastava
Hyperfiltration is a well-known risk factor in progressive loss of renal function in chronic kidney disease (CKD) secondary to various diseases. A reduced number of functional nephrons due to congenital or acquired cause(s) results in hyperfiltration in the remnant kidney. Hyperfiltration-associated increase in biomechanical forces, namely pressure-induced tensile stress and fluid flow-induced shear stress (FFSS) determine cellular injury and response. We believe the current treatment of CKD yields limited success because it largely attenuates pressure-induced tensile stress changes but not the effect of FFSS on podocytes...
January 17, 2017: Prostaglandins & Other Lipid Mediators
https://www.readbyqxmd.com/read/28100158/double-inferior-vena-cava-ivc-with-intrahepatic-interruption-hemiazygos-vein-continuation-and-intrahepatic-venous-shunt
#17
Hilal Sahin, Yeliz Pekcevik, Ramazan Aslaner
The duplication of the inferior vena cava (IVC) is a rare congenital anomaly, which also has some variations regarding the complex embryological development of the IVC. In the typical form, infrarenal IVC segments are duplicated and the left IVC joins the left renal vein, which crosses anterior to the aorta in the normal fashion to join the right IVC. In variant forms, the interruption of the intrahepatic segment of the IVC, azygos or hemiazygos continuation, or retroaortic course of the renal vein may be seen...
January 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28099405/insights-in-transplanting-complex-paediatric-renal-recipients-with-vascular-anomalies
#18
Pankaj Chandak, Nicos Kessaris, Chris J Callaghan, Francis Calder, Jelena Stojanovic, Jonathon Olsburgh, Martin Drage, Helen Hume-Smith, Zubir Ahmed, Anna Adamusiak, Derek Roebuck, Colin Forman, Stephen D Marks, Nizam Mamode
BACKGROUND: Children with end-stage kidney disease may have co-existing iatrogenic or congenital vascular anomalies making transplantation difficult. We describe our approach in 5 recipients with vascular anomalies and significant co-morbidities, including one case of blood group incompatibility. METHODS: Five children aged 3 - 17 (median 7) years, weighing 14 - 34 (median 18) kg of whom 4 had occluded inferior vena cava or iliac veins and 2 had previous complex vascular reconstructions prior to transplantation for mid-aortic syndrome and multiple aortic aneurysms, respectively underwent renal transplantation...
January 17, 2017: Transplantation
https://www.readbyqxmd.com/read/28078995/sphingolipids-in-genetic-and-acquired-forms-of-chronic-kidney-diseases
#19
Norishi Ueda
Sphingolipids (SLs) regulate apoptosis, proliferation, and stress response. SLs, including ceramide, glycosphingolipids (glucosylceramide, lactosylceramide, and gangliosides) and sphingosine-1-phosphate (S1P), play a role in the pathogenesis and progression of genetic (lysosomal storage disease, congenital nephrotic syndrome and polycystic kidney disease) and non-genetic forms of chronic kidney diseases (CKDs). SLs metabolism defects promote complications (cardiovascular events, etc.) via oxidant stress in CKDs...
January 12, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28076021/radiologic-assessment-of-native-renal-vasculature-a-multimodality-review
#20
Sayf Al-Katib, Monisha Shetty, Syed Mohammad A Jafri, Syed Zafar H Jafri
A wide range of clinically important anatomic variants and pathologic conditions may affect the renal vasculature, and radiologists have a pivotal role in the diagnosis and management of these processes. Because many of these entities may not be suspected clinically, renal artery and vein assessment is an essential application of all imaging modalities. An understanding of the normal vascular anatomy is essential for recognizing clinically important anatomic variants. An understanding of the protocols used to optimize imaging modalities also is necessary...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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