Article
Pediatrics
Peony Shih Pui Tan, Kylie-Ann Mallitt, Hugh J. McCarthy, Sean E. Kennedy
Summary: The study found that the impact of caring for a child with posterior urethral valves is complex and is strongly influenced by the severity of associated CKD. Caregivers generally rated the quality of care received as high, but there is room for improvement in information provision. Lower IOFS scores were significantly associated with receiving less respectful and supportive care.
Review
Biochemistry & Molecular Biology
Richard Klaus, Baerbel Lange-Sperandio
Summary: Posterior urethral valves are the most common form of lower urinary tract obstructions, causing irreversible damage to kidney and bladder development. Patients often develop chronic kidney disease and bladder dysfunction. The prognosis of these patients depends on prenatal and postnatal parameters.
Article
Biology
Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Filipa M. Lopes, Alina C. Hilger, Horia C. Stanescu, Catalin D. Voinescu, Glenda M. Beaman, William G. Newman, Marcin Zaniew, Stefanie Weber, Yee Mang Ho, John O. Connolly, Dan Wood, Carlo Maj, Alexander Stuckey, Athanasios Kousathanas, J. C. Ambrose, Robert Kleta, Adrian S. Woolf, Detlef Bockenhauer, Adam P. Levine, Daniel P. Gale, Gregory G. Germino
Summary: Posterior urethral valves (PUV) are the most common cause of end-stage renal disease in children, but the genetic architecture of this disorder is unknown. In a genome-wide association study, common and rare genetic variants associated with PUV were identified and mapped to genes related to urinary tract development. The study also found a correlation between rare structural variations and candidate regulatory elements. These findings provide new insights into the biology of PUV.
Article
Pediatrics
Aybike Hofmann, Maximilian Haider, Alexander Cox, Franziska Vauth, Wolfgang H. Roesch
Summary: In boys with posterior urethral valves, both valve ablation and secondary vesicostomy are equally effective in improving bladder function, reducing postoperative complications, and minimizing renal damage.
Article
Urology & Nephrology
Kristen M. Meier, Margret E. Bock, Nicholas J. Behrendt, Regina M. Reynolds, Mariana L. Meyers, Vijaya Vemulakonda
Summary: This report presents a case of a 17-year-old pregnant female with severe lower urinary tract obstruction and associated anhydramnios. The ethical questions raised by this case are discussed.
Article
Urology & Nephrology
Kristen M. Meier, Margret E. Bock, Nicholas J. Behrendt, Regina M. Reynolds, Mariana L. Meyers, Vijaya Vemulakonda
Summary: This report describes the case of a 17-year-old pregnant female with severe lower urinary tract obstruction and anhydramnios, highlighting the ethical questions it raised.
Article
Pediatrics
Prakorn Ekarat, Worapat Attawettayanon, Chompoonut Limratchapong, Praewa Sophark, Prayong Vachvanichsanong
Summary: This study examined the long-term outcomes of PUV boys in Thailand and found that UTI and CKD were the most common presentations and consequences. Lifelong follow-up for renal and bladder functions is essential for all PUV patients.
Article
Pediatrics
Loes F. M. van der Zanden, Carlo Maj, Oleg Borisov, Iris A. L. M. van Rooij, Josine S. L. T. Quaedackers, Martijn Steffens, Luca Schierbaum, Sophia Schneider, Lea Waffenschmidt, Lambertus A. L. M. Kiemeney, Liesbeth L. L. de Wall, Stefanie Heilmann, Aybike Hofmann, Jan Gehlen, Johannes Schumacher, Maria Szczepanska, Katarzyna Taranta-Janusz, Pawel Kroll, Grazyna Krzemien, Agnieszka Szmigielska, Michiel F. Schreuder, Stefanie Weber, Marcin Zaniew, Nel Roeleveld, Heiko Reutter, Wout F. J. Feitz, Alina C. Hilger
Summary: This study is the largest genetic study on PUV to date. No significant genome-wide locus was identified, but three loci showed suggestive associations with PUV.
FRONTIERS IN PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Nela Kelam, Anita Racetin, Mirjana Polovic, Benjamin Benzon, Marin Ogorevc, Katarina Vukojevic, Merica Glavina Durdov, Ana Dunatov Huljev, Ivana Kuzmic Prusac, Davor Caric, Fila Raguz, Sandra Kostic
Summary: This study investigates the expression patterns of candidate genes for kidney and urinary tract congenital anomalies in human fetal kidney development. The results reveal significant variations in the expression patterns of these genes, suggesting their involvement in CAKUT pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Beatriz Castello Branco, Bruno Wilnes, Pedro Alves Soares Vaz de Castro, Caio Ribeiro Vieira Leal, Ana Cristina Silva
Summary: The posterior urethral valve (PUV) is a rare but significant cause of congenital obstruction of the lower urinary tract in pediatrics, leading to chronic kidney disease (CKD). New diagnostic strategies, including biomarkers, are essential for better prognosis assessment in PUV patients.
CURRENT MEDICINAL CHEMISTRY
(2023)
Article
Pediatrics
Luke Harper, Nathalie Botto, Matthieu Peycelon, Jean-Luc Michel, Marc-David Leclair, Sarah Garnier, Pauline Clermidi, Alexis P. Arnaud, Anne-Laure Dariel, Eric Dobremez, Alice Faure, Laurent Fourcade, Nadia Boudaoud, Yann Chaussy, Fideline Collin, Laetitia Huiart, Cyril Ferdynus, Valery Bocquet, Frederique Sauvat
Summary: In boys with PUV, the presence of high-grade VUR is associated with a higher risk of fUTI. The rate of febrile UTIs seems to decrease after 9 months.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Jethro C. C. Kwong, Adree Khondker, Jin Kyu Kim, Michael Chua, Daniel T. Keefe, Joana Dos Santos, Marta Skreta, Lauren Erdman, Neeta D'Souza, Antoine Fermin Selman, John Weaver, Dana A. Weiss, Christopher Long, Gregory Tasian, Chia Wei Teoh, Mandy Rickard, Armando J. Lorenzo
Summary: This study successfully predicted clinically relevant outcomes in patients with posterior urethral valve using machine learning models, achieving better predictive performance than traditional statistical models.
PEDIATRIC NEPHROLOGY
(2022)
Article
Urology & Nephrology
Priyank Yadav, Mandy Rickard, John Weaver, Michael Chua, Jin Kyu Kim, Adree Khondker, Karen Milford, Daniel T. Keefe, Marisol Lolas, Joana Dos Santos, Lauren Erdman, Marta Skreta, Antoine Fermin Selman, Eran Ashwal, Bernarda Viteri, Greg Ryan, Gregory Tasian, Armando J. Lorenzo
Summary: This study compared the outcomes of pre- vs postnatally diagnosed posterior urethral valves (PUV) and found no significant difference between the two diagnostic methods. Further research and standardization of treatment pathways are needed.
Article
Pediatrics
Loes F. M. van der Zanden, Sander Groen in't Woud, Iris A. L. M. van Rooij, Josine S. L. T. Quaedackers, Martijn Steffens, Liesbeth L. L. de Wall, Michiel F. Schreuder, Wout F. J. Feitz, Nel Roeleveld
Summary: By investigating maternal risk factors, we found that posterior urethral valves (PUV) is a multifactorial disorder caused by both genetic and environmental factors. Family history, maternal age, and hypertension were associated with PUV development, while higher maternal age and gestational hypertension seemed to decrease the risk. The role of assisted reproductive techniques in PUV development needs further research.
FRONTIERS IN PEDIATRICS
(2023)
Article
Acoustics
F. Fontanella, H. Groen, L. K. Duin, S. Suresh, C. M. Bilardo
Summary: This study established reference values for fetal urinary bladder distension in pregnancy and used Z-scores to differentiate different lower urinary tract obstructions. The accuracy of Z-scores was validated through diagnostic results and anatomopathological findings.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Genetics & Heredity
Adrienne Sexton, Paul A. James
Summary: Metaphors play a crucial role in communication, learning, and creating meaning, and purposefully working with client-generated and counselor-generated metaphors can enhance the client-counselor relationship in genetic counseling.
JOURNAL OF GENETIC COUNSELING
(2022)
Article
Genetics & Heredity
Gillian Gregory, Kuheli Das Gupta, Bettina Meiser, Kristine Barlow-Stewart, Peter Geelan-Small, Rajneesh Kaur, Maatje Scheepers-Joynt, Simone McInerny, Shelby Taylor, Yoland Antill, Lucinda Salmon, Courtney Smyth, Mary-Anne Young, Paul A. James, Tatiane Yanes
Summary: In communicating polygenic risk (PR) for hereditary breast cancer, genetic health professionals tend to use a teaching model rather than a patient-centered approach, which differs from how monogenic risk (MR) is communicated. PR consultations involve significantly less exploration of counselees' reasons for attending genetic counseling or checking their information preferences, decision-making style, medical knowledge, understanding, or concerns compared to MR consultations.
JOURNAL OF GENETIC COUNSELING
(2022)
Article
Genetics & Heredity
Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin Van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper
Summary: The study aims to provide standardized practices for PCR-based RNA diagnostics using clinically accessible specimens. The results show that RNA diagnostics can provide meaningful data for most genetic cases, allowing for variant reclassification and important applications in genetic counseling, clinical care, and prenatal counseling.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi, Paolo Radice, Mads Thomassen, Thomas V. O. Hansen, Anne-Marie Gerdes, Henriette R. Nielsen, Sandrine M. Caputo, Alberto Zambelli, Ake Borg, Angela Solano, Abigail Thomas, Michael T. Parsons, Antonis C. Antoniou, Goska Leslie, Xin Yang, Georgia Chenevix-Trench, Trinidad Caldes, Ava Kwong, Inge Sokilde Pedersen, Charlotte K. Lautrup, Esther M. John, Mary Beth Terry, John L. Hopper, Melissa C. Southey, Irene L. Andrulis, Marc Tischkowitz, Ramunas Janavicius, Susanne E. Boonen, Lone Kroeldrup, Liliana Varesco, Ute Hamann, Ana Vega, Edenir Palmero, Judy Garber, Marco Montagna, Christi J. Van Asperen, Lenka Foretova, Mark H. Greene, Tina Selkirk, Pal Moller, Amanda E. Toland, Susan M. Domchek, Paul A. James, Heather Thorne, Diana M. Eccles, Sarah M. Nielsen, Siranoush Manoukian, Barbara Pasini, Maria A. Caligo, Conxi Lazaro, Judy Kirk, Barbara Wappenschmidt, Amanda B. Spurdle, Fergus J. Couch, Rita Schmutzler, David E. Goldgar
Summary: This study provides important implications for counseling high-risk women with missense pathogenic variants in BRCA1/2 genes, showing that the risks of breast cancer associated with missense variants are significantly lower than those associated with protein truncating variants.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Cristina Fortuno, Kelly McGoldrick, Tina Pesaran, Jill Dolinsky, Lily Hoang, Jeffrey N. Weitzel, Victoria Beshay, Huei San Leong, Paul A. James, Amanda B. Spurdle
Summary: Studies have shown that variants with low VAF in the TP53 gene may play a role in clonal hematopoiesis. Detection of variants with low VAF can be considered a predictor of TP53 variant pathogenicity, providing diagnostic value.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Paul A. James, Cristina Fortuno, Na Li, Belle W. X. Lim, Ian G. Campbell, Amanda B. Spurdle
Summary: For genes with reliable estimates of disease risk associated with loss-of-function variants, case-control data can be used to estimate the proportion of variants of typical risk effect. This study derived a calculation for estimating the proportion of pathogenic variants from case-control data and applied it to breast cancer studies, finding evidence of pathogenic variants among rare noncoding variants and variations in the proportion of pathogenic missense variants between genes. The study also revealed the predictive ability of missense variants' location for pathogenicity.
Article
Oncology
Belle W. X. Lim, Na Li, Simone M. Rowley, Ella R. Thompson, Simone McInerny, Magnus Zethoven, Rodney J. Scott, Lisa Devereux, Erica K. Sloan, Paul A. James, Ian G. Campbell
Summary: The study reveals that rare missense variants in the RAD51C gene are associated with increased familial breast cancer risk and are correlated with specific breast cancer subtypes and mutational characteristics.
Article
Genetics & Heredity
Bettina Meiser, Melissa Monnik, Rachel Austin, Cassandra Nichols, Elisa Cops, Lucinda Salmon, Amanda B. Spurdle, Finlay Macrae, Natalie Taylor, Nicholas Pachter, Paul James, Rajneesh Kaur
Summary: The study aimed to describe the acceptability and perceived barriers and enablers to establish a national registry targeting carriers of pathogenic variants in cancer susceptibility genes. Interviews with stakeholders showed enthusiasm and support for the registry, with carriers and healthcare professionals showing positive attitudes towards its potential research applications. Participants had differing opinions regarding consent approaches and data sharing, highlighting the need for careful consideration in developing and managing such a registry.
JOURNAL OF COMMUNITY GENETICS
(2022)
Article
Cell Biology
James van der Wolde, Kotaro Haruhara, Victor G. Puelles, David Nikolic-Paterson, John F. Bertram, Luise A. Cullen-McEwen
Summary: This study investigated the progressive loss of podocytes during healthy aging and how the remaining podocytes respond to podocyte depletion at different ages. The results showed that podocyte number per glomerulus did not change in control mice during the examined time period but control mice at 18 months had the largest podocytes and the lowest podocyte density. Podocyte depletion at different ages resulted in different levels of albuminuria and glomerulosclerosis. In addition, the study found that the mTORC1-mediated podocyte hypertrophy played an important role in both physiological aging and adaptive settings.
CELL AND TISSUE RESEARCH
(2022)
Article
Genetics & Heredity
Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J. Scott, Paul A. James, Ian G. Campbell
Summary: PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2. This study shows that a clinically important proportion of PALB2 pathogenic mutations in Australian patients with familial breast cancer are large genomic rearrangements (LGRs).
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Cardiac & Cardiovascular Systems
Elizabeth D. Paratz, Alexander van Heusden, Dominica Zentner, Natalie Morgan, Karen Smith, Tina Thompson, Paul James, Vanessa Connell, Andreas Pflaumer, Christopher Semsarian, Jodie Ingles, Sarah Parsons, Dion Stub, Andre La Gerche
Summary: The causes, circumstances, and preventability of young sudden cardiac arrest remain uncertain. This study found that approximately half of young out-of-hospital cardiac arrests (OHCAs) have a cardiac cause, with coronary disease and drug toxicity being the most common etiologies. OHCAs are more likely to occur during sleep, with a disproportionate occurrence during exercise compared to typical Australian days. Interestingly, most patients with a cardiac cause of OHCA had no standard modifiable cardiovascular risk factors and had not reported cardiac symptoms or been evaluated by a cardiologist prior to their OHCA.
Article
Genetics & Heredity
Joanne Isbister, Adrienne Sexton, Laura E. Forrest, Paul James, James Dowty, Jessica Taylor, Jehannine Austin, Ingrid Winship
Summary: Genetic counseling plays a critical role in supporting individuals and their families in adapting to psychiatric conditions. However, little data exists on the practice and attitudes of Australian genetic counselors regarding psychiatric genetic counseling (PGC). This survey found that most Australian genetic counselors do not specialize in psychiatric genetics and rarely see patients with a personal or family history of psychiatric disorders. While more than half of respondents believed there was sufficient evidence to support PGC, only a minority provided genetic counseling on this topic. Most respondents lacked confidence in providing risk assessments for psychiatric disorders but expressed interest in specialist training and incorporating PGC into their future practice.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Physiology
Sarah E. Gazzard, James van Der Wolde, Kotaro Haruhara, John F. Bertram, Luise A. Cullen-McEwen
Summary: This study found that an adverse intrauterine environment, caused by a low protein diet, can lead to reduced podocyte numbers and increased susceptibility to diabetes-induced renal injury. Growth-restricted offspring with low nephron number and normalized podocyte endowment were more susceptible to alterations in glomerular volume and podocyte density, leading to a more rapid onset of albuminuria and renal injury.
PHYSIOLOGICAL REPORTS
(2023)
Article
Genetics & Heredity
Cristina Fortuno, Marcy Richardson, Tina Pesaran, Amal Yussuf, Carolyn Horton, Paul A. James, Amanda B. Spurdle
Summary: Despite published evidence to the contrary, public resources like OMIM and MONDO still list CHEK2 as the gene-disease relationship for 'Li-Fraumeni syndrome 2', causing frustration among LFS clinical experts. The comparison of personal cancer characteristics between 2095 CHEK2 and 248 TP53 pathogenic variant carriers and 15,135 individuals with no known pathogenic variant at Ambry Genetics highlights clear differences in clinical presentation, with no evidence of CHEK2 being associated with any TP53-related LFS cancers. These findings emphasize the need to replace 'Li-Fraumeni syndrome 2' as the disease name associated with CHEK2 to avoid potential confusion.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Daniel R. Barnes, Valentina Silvestri, Goska Leslie, Lesley McGuffog, Joe Dennis, Xin Yang, Julian Adlard, Bjarni A. Agnarsson, Munaza Ahmed, Kristiina Aittomaki, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Bernd Auber, Jacopo Azzollini, Judith Balmana, Rosa B. Barkardottir, Daniel Barrowdale, Julian Barwell, Muriel Belotti, Javier Benitez, Pascaline Berthet, Susanne E. Boonen, Ake Borg, Aniko Bozsik, Angela F. Brady, Paul Brennan, Carole Brewer, Joan Brunet, Agostino Bucalo, Saundra S. Buys, Trinidad Caldes, Maria A. Caligo, Ian Campbell, Hayley Cassingham, Lise Lotte Christensen, Giulia Cini, Kathleen B. M. Claes, Jackie Cook, Anna Coppa, Laura Cortesi, Giuseppe Damante, Esther Darder, Rosemarie Davidson, Miguel de la Hoya, Kim De Leeneer, Robin de Putter, Jesus Del Valle, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Ros Eeles, Christoph Engel, D. Gareth Evans, Lidia Feliubadalo, Florentia Fostira, Megan Frone, Debra Frost, David Gallagher, Andrea Gehrig, Sophie Giraud, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Helen Gregory, Eva Gross, Eric Hahnen, Ute Hamann, Thomas V. O. Hansen, Helen Hanson, Julia Hentschel, Judit Horvath, Louise Izatt, Angel Izquierdo, Paul A. James, Ramunas Janavicius, Uffe Birk Jensen, Oskar Th Johannsson, Esther M. John, Gero Kramer, Lone Kroeldrup, Torben A. Kruse, Charlotte Lautrup, Conxi Lazaro, Fabienne Lesueur, Adria Lopez-Fernandez, Phuong L. Mai, Siranoush Manoukian, Zoltan Matrai, Laura Matricardi, Kara N. Maxwell, Noura Mebirouk, Alfons Meindl, Marco Montagna, Alvaro N. Monteiro, Patrick J. Morrison, Taru A. Muranen, Alex Murray, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Tu Nguyen-Dumont, Dieter Niederacher, Edith Olah, Olufunmilayo Olopade, Domenico Palli, Michael T. Parsons, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez-Segura, Paolo Peterlongo, Annabeth H. Petersen, Pedro Pinto, Mary E. Porteous, Caroline Pottinger, Miquel Angel Pujana, Paolo Radice, Juliane Ramser, Johanna Rantala, Mark Robson, Mark T. Rogers, Karina Ronlund, Andreas Rump, Ana Maria Sanchez de Abajo, Payal D. Shah, Saba Sharif, Lucy E. Side, Christian F. Singer, Zsofia Stadler, Linda Steele, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Alex Teule, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Stefania Tommasi, Angela Toss, Alison H. Trainer, Vishakha Tripathi, Virginia Valentini, Christi J. van Asperen, Marta Venturelli, Alessandra Viel, Joseph Vijai, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Anna Whaite, Ines Zanna, Kenneth Offit, Mads Thomassen, Fergus J. Couch, Rita K. Schmutzler, Jacques Simard, Douglas F. Easton, Georgia Chenevix-Trench, Antonis C. Antoniou, Laura Ottini
Summary: The study assessed the associations of polygenic risk scores with breast and prostate cancer risks for male BRCA1 and BRCA2 carriers, finding strong associations between the risk scores and the respective cancer risks. The estimated breast cancer odds ratios were larger after adjusting for family history of female relative breast cancer.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2022)
