Results 71 to 80 of about 726,961 (271)

Double Threat in a Newborn: High Anorectal Malformation with Pouch Colon and Bilateral Multicystic Dysplastic Kidneys – A Rare Case Report

Journal of Indian Association of Pediatric Surgeons
The coexistence of bilateral multicystic dysplastic kidneys (MCDKs) and high anorectal malformation with pouch colon is exceptionally rare. The combination results in a nonsurvivable condition due to complete renal failure, posing complex diagnostic and ...
Shweta Patil, Amit Kumar Sinha, Shreyas Dudhani, Nahil Najeeb   +3 more
doaj   +1 more source

Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound.
Chih-Ping Chen, Jian-Pei Huang, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Wayseen Wang, Chen-Chi Lee   +7 more
doaj   +1 more source

Percutaneous transluminal renal angioplasty application effect on renal function in patients with renal artery stenosis: A case report on 4 patients [PDF]

Vojnosanitetski Pregled, 2013
Introduction. Renal artery stenosis (RAS) is narrowing of one or both renal arteries or their branches. Clinically significant stenosis involves narrowing of the lumen, which is approximately 80%.
Mijušković Mirjana, Vavić Neven, Rusović Siniša, Ignjatović Ljiljana, Obrenčević Katarina, Radojević Milorad, Kovačević Zoran, Ćukić Zoran, Petrović Marijana, Pilčević Dejan, Tadić-Pilčević Jelena, Terzić Brankica   +11 more
doaj   +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt   +192 more
wiley   +1 more source

Squamous Cysts in Renal Dysplasia

Journal of Urology, 1986
We report two cases of renal dysplasia with squamous cysts. The histological features in one case suggest that the cysts may develop through metaplasia of the tubular epithelium.
J K, Chan, D, Saw, A, Myint, H C, Ho
openaire   +2 more sources

Elastic scattering spectroscopy accurately detects high grade dysplasia and cancer in Barrett's oesophagus [PDF]

, 2006
Background and aims: Endoscopic surveillance of Barrett’s oesophagus currently relies on multiple random biopsies. This approach is time consuming, has a poor diagnostic yield, and significant interobserver variability. Elastic scattering spectroscopy is
Lovat, L.B., Bigio, I., Johnson, K., Davies, S., Thorpe, S.M., Bown, S.G., Fitzgerald, R., Clark, B.R., Novelli, M.R., Mackenzie, G.D., Pickard, D., Fearn, T., Selvasekar, C., O’Donovan, M.   +13 more
core  

Further Predictors of Renal Dysplasia in Fetal Obstructive Uropathy - Bladder Pressure and Biochemistry of Fresh Urine

, 1991
Urine was aspirated on two consecutive days from the dilated bladder of nine fetuses with lower urinary tract obstruction. Gestational age ranged from 17 to 35 weeks.
Nicolini, U, Yuen Tannirandorn, Umberto Nicolini, Peter Nicolaidis, Nicholas M. Fisk, Tannirandorn, Y, Vaughan, J, Fisk, NM, Nicolaidis, P, Rodeck, CH, Janet Vaughan, Charles H. Rodeck   +11 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Renal infarction secondary to fibrous dysplasia and aneurysm formation of renal artery.

, 1990
We report a case of a previously healthy forty-year-old man with bilateral renal artery stenosis secondary to bilateral medial fibrous dysplasia. He was additionally found to have a dissecting aneurysm of the left upper renal artery branch with resultant
Siegelbaum, M H, Weiss, J P
core   +1 more source

Renal dysplasia in a Boxer dog: case report Displasia renal em um cão Boxer: relato de caso

Arquivo Brasileiro de Medicina Veterinária e Zootecnia, 2008
A 20-month-old female Boxer dog presented significant increase on the bilateral volume of the maxillaries. The necropsy revealed that the kidneys were reduced in size, pale, with lobular aspect, and reduced cortical-medullar ratio.
K.B. Brum, R.S. Juliano, M.A. Souza, L.F.F. Fleury, A.D. Damasceno   +4 more
doaj   +1 more source