Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

Autor: Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi

Publikováno v: Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)

Abstract We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive

Externí odkaz: https://doaj.org/article/051927d1f13244f69c11c6174e04afab

Longitudinal Changes in Health-Related Quality of Life in Primary Glomerular Disease: Results From the CureGN Study

Autor: Shannon L. Murphy, John D. Mahan, Jonathan P. Troost, Tarak Srivastava, Amy J. Kogon, Yi Cai, T. Keefe Davis, Hilda Fernandez, Alessia Fornoni, Rasheed A. Gbadegesin, Emily Herreshoff, Pietro A. Canetta, Patrick H. Nachman, Bryce B. Reeve, David T. Selewski, Christine B. Sethna, Chia-shi Wang, Sharon M. Bartosh, Debbie S. Gipson, Katherine R. Tuttle, Ali Gharavi, Wooin Ahn, Gerald B. Appel, Rupali S. Avasare, Revekka Babayev, Ibrahim Batal, Andrew S. Bomback, Eric Brown, Eric S. Campenot, Pietro Canetta, Brenda Chan, Vivette D. D’Agati, Bartosz Foroncewicz, Gian Marco Ghiggeri, William H. Hines, Namrata G. Jain, Krzysztof Kiryluk, Fangming Lin, Francesca Lugani, Maddalena Marasa, Glen Markowitz, Sumit Mohan, Krzysztof Mucha, Thomas L. Nickolas, Jai Radhakrishnan, Maya K. Rao, Renu Regunathan-Shenk, Simone Sanna-Cherchi, Dominick Santoriello, Michael B. Stokes, Natalie Yu, Anthony M. Valeri, Ronald Zviti, Larry A. Greenbaum, William E. Smoyer, Amira Al-Uzri, Isa Ashoor, Diego Aviles, Rossana Baracco, John Barcia, Sharon Bartosh, Craig Belsha, Michael C. Braun, Aftab Chishti, Donna Claes, Carl Cramer, Keefe Davis, Elif Erkan, Daniel Feig, Michael Freundlich, Melisha Hanna, Guillermo Hidalgo, Amrish Jain, Myda Khalid, Mahmoud Kallash, MD, Jerome C. Lane, John Mahan, Nisha Mathews, Carla Nester, Cynthia Pan, Hiren Patel, Adelaide Revell, Rajasree Sreedharan, Julia Steinke, Scott E. Wenderfer, Craig S. Wong, Ronald Falk, William Cook, Vimal Derebail, Agnes Fogo, Adil Gasim, Todd Gehr, Raymond Harris, Jason Kidd, Louis-Philippe Laurin, Will Pendergraft, Vincent Pichette, Thomas Brian Powell, Matthew B. Renfrow, Virginie Royal, Lawrence B. Holzman, Sharon Adler, Charles Alpers, Raed Bou Matar, Elizabeth Brown, Michael Choi, Katherine M. Dell, Ram Dukkipati, Fernando C. Fervenza, Crystal Gadegbeku, Patrick Gipson, Leah Hasely, Sangeeta Hingorani, Michelle A. Hladunewich, Jonathan Hogan, J. Ashley Jefferson, Kenar Jhaveri, Duncan B. Johnstone, Frederick Kaskel, Amy Kogan, Jeffrey Kopp, Kevin V. Lemley, Laura Malaga- Dieguez, Kevin Meyers, Alicia Neu, Michelle Marie O'Shaughnessy, John F. O’Toole, Rulan Parekh, Heather Reich, Kimberly Reidy, Helbert Rondon, Kamalanathan K. Sambandam, John R. Sedor, Jeffrey Schelling, John C. Sperati, Agnes Swiatecka-Urban, Howard Trachtman, Joseph Weisstuch, Olga Zhdanova, Brenda Gillespie, Matthias Kretzler, Bruce M. Robinson, Laura Mariani, Matthew Wladkowski, Lisa M. Guay-Woodford

Publikováno v: Kidney International Reports, Vol 5, Iss 10, Pp 1679-1689 (2020)

Introduction: Prior cross-sectional studies suggest that health-related quality of life (HRQOL) worsens with more severe glomerular disease. This longitudinal analysis was conducted to assess changes in HRQOL with changing disease status. Methods: Cu

Externí odkaz: https://doaj.org/article/22aaf2057cd54d10aa49074d880c6040

Fetal Nephrology: A Quaternary Care Center Experience

Autor: Auda M. Plaud Gonzalez, Catherine Joseph, Samantha R. Stover, Ahmed Nassr, Chester J. Koh, Joseph R. Angelo, Michael C. Braun

Publikováno v: Kidney360. 4:333-340

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a3044750f4a505188c97794bd8ce852
https://doi.org/10.34067/kid.0004782022

Dental and Maxillofacial Cone Beam CT—High Number of Incidental Findings and Their Impact on Follow-Up and Therapy Management

Autor: Michael J. Braun, Thaddaeus Rauneker, Jens Dreyhaupt, Thomas K. Hoffmann, Ralph G. Luthardt, Bernd Schmitz, Florian Dammann, Meinrad Beer

Publikováno v: Diagnostics, Vol 12, Iss 5, p 1036 (2022)

Cone beam computed tomography (CBCT) is increasingly used for dental and maxillofacial imaging. The occurrence of incidental findings has been reported, but clinical implications of these findings remain unclear. The study’s aim was to identify the

Externí odkaz: https://doaj.org/article/bca3182a0f3c4f479989fb334b3f252f

Measuring variation in the quality of systemic anti-cancer therapy delivery across hospitals: A national population-based evaluation

Autor: Jemma M. Boyle, Jan van der Meulen, Angela Kuryba, Thomas E. Cowling, Christopher Booth, Nicola S. Fearnhead, Michael S. Braun, Kate Walker, Ajay Aggarwal

Publikováno v: European Journal of Cancer. 178:191-204

To date, there has been little systematic assessment of the quality of care associated with systemic anti-cancer therapy (SACT) delivery across national healthcare systems. We evaluated hospital-level toxicity rates during SACT treatment as a means o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8b43f1443340227c3bf1976eead197f
https://doi.org/10.1016/j.ejca.2022.10.017