Article
Transplantation
Sander Groen In 't Woud, Marleen M. H. J. van Gelder, Iris A. L. M. van Rooij, Wout F. J. Feitz, Nel Roeleveld, Michiel F. Schreuder, Loes F. M. van der Zanden
Summary: Congenital solitary functioning kidney is associated with hypertension, albuminuria, and chronic kidney disease. The study found that interactions between genetic and environmental factors, such as a specific gene mutation in conjunction with maternal overweight, may contribute to the etiology of CSFK. Further research is needed to explore these interactions and their potential impact on the development of the condition.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Review
Urology & Nephrology
Kamal Khan, Dina F. Ahram, Yangfan P. Liu, Rik Westland, Rosemary Sampogna, Nicholas Katsanis, Erica E. Davis, Simone Sanna-Cherchi
Summary: Despite the increasing number of reports on CAKUT, the genetic diagnostic yield remains low due to complex inheritance patterns and multigene interactions. Innovative genetic and molecular approaches are needed to overcome these challenges.
KIDNEY INTERNATIONAL
(2022)
Article
Medicine, General & Internal
Jing Dong, Lin-Liang Yin, Xue-Dong Deng, Chun-Ya Ji, Qi Pan, Zhong Yang, Ting Peng, Jiang-Nan Wu
Summary: Early supplementation of folic acid (FA) during pregnancy reduces the risk of congenital malformations, especially heart defects. Starting FA supplementation 1.5 months before conception and continuing for 4 months is the optimal option for prevention of congenital malformations.
Article
Nutrition & Dietetics
Estela Maldonado, Elena Martinez-Sanz, Teresa Partearroyo, Gregorio Varela-Moreiras, Juliana Perez-Miguelsanz
Summary: This study demonstrates that maternal folate deficiency can lead to various craniofacial malformations in embryos, with a higher risk of affecting cleft palate and nasal region development. The results show a significant reduction in the number of fetuses over time under FAD diet, along with various severe abnormalities, with nasal region dysmorphologies being the most frequent.
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)
Article
Environmental Sciences
Jin Chen, Mingxuan Zhang, Hongmei Zou, Stanley Aniagu, Yan Jiang, Tao Chen
Summary: Ambient fine particulate matter (PM2.5) is a global environmental health issue that can increase the risk of congenital heart diseases (CHDs) in offspring. In this study, we found that supplementation with folic acid (FA) and Resveratrol (RSV) can protect against heart defects caused by PM2.5 exposure in zebrafish embryos. This protective effect is achieved by targeting different signaling pathways and reducing reactive oxygen species (ROS) production. Additionally, vitamin C (VC) also exhibits a synergistic inhibitory effect with FA on apoptosis and heart defects induced by PM2.5.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2022)
Article
Cell Biology
Lihong Tan, Minghui Yu, Yaxin Li, Shanshan Xue, Jing Chen, Yihui Zhai, Xiaoyan Fang, Jialu Liu, Jiaojiao Liu, Xiaohui Wu, Hong Xu, Qian Shen
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) is a common birth defect caused by complex genetic and environmental factors. Recent studies have suggested the involvement of long non-coding RNAs in the development of the kidney and urinary tract system. Research using PB transposon-based mutagenesis found that abnormal expression of Rik may lead to a reduction in UB branches by downregulating Bmp4, contributing to the development of CAKUT.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Pediatrics
Laura Walawender, Brian Becknell, Douglas G. Matsell
Summary: Congenital anomalies of the kidney and urinary tract (CAKUT) are disruptions in normal kidney and urinary tract development during fetal life, and they are the most common cause of kidney failure in children worldwide. The causes of CAKUT are diverse, including gene mutations, environmental factors, and obstruction. The clinical outcomes vary depending on the timing and severity of the insult and obstruction. In this review, we discuss the common forms of CAKUT and their long-term complications, as well as the risk factors for kidney injury and disease progression.
PEDIATRIC NEPHROLOGY
(2023)
Article
Obstetrics & Gynecology
Anna-Karina Aaris Henningsen, Signe Opdahl, Ulla-Britt Wennerholm, Aila Tiitinen, Steen Rasmussen, Liv Bente Romundstad, Christina Bergh, Mika Gissler, Julie Lyng Forman, Anja Pinborg
Summary: This study investigated the risk of major congenital malformations in live-born singletons conceived with intracytoplasmic sperm injection (ICSI) compared to in vitro fertilization (IVF). The findings showed that the risk of major malformations was slightly higher in live-born singletons conceived with fresh ICSI compared to fresh IVF. Children conceived through ICSI also had a higher risk of respiratory and chromosomal malformations, but the number of cases was small in each group. The risk of hypospadias was higher when ICSI was performed solely due to male factor infertility. These findings should be considered when choosing assisted reproductive technology methods for couples without male factor infertility.
FERTILITY AND STERILITY
(2023)
Article
Urology & Nephrology
Ronit Calderon-Margalit, Gil Efron, Oren Pleniceanu, Dorit Tzur, Michal Stern-Zimmer, Arnon Afek, Tomer Erlich, Estela Derazne, Jeremy D. Kark, Lital Keinan-Boker, Gilad Twig, Asaf Vivante
Summary: The study revealed that individuals with congenital anomalies of the kidney and urinary tract (CAKUT) had a significantly increased risk of developing urinary tract (UT) cancer in adulthood, particularly before 45 years of age for women and after 45 years of age for men. Despite the increased risk, the incidence and absolute risk of UT cancer remained relatively low.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Biology
Xiaoyu Che, Jufen Liu, Gabriel L. Galea, Yali Zhang, Nicholas D. E. Greene, Le Zhang, Lei Jin, Linlin Wang, Aiguo Ren, Zhiwen Li
Summary: Neural tube defects are severe congenital malformations, and folic acid supplementation can reduce their prevalence in northern China. The presence of comorbid malformations suggests a shared etiology.
Article
Pediatrics
Anna Materna-Kiryluk, Katarzyna Wisniewska, Barbara Wieckowska, Jolanta Wierzba, Anna Jazdzewska, Beata Jaroszewska-Swiatek, Kinga Skotnicka, Anna Latos-Bielenska
Summary: A study in Poland found that low birth weight, prematurity, and maternal smoking history were strongly associated with isolated LRDs, along with other risk factors such as paternal education, gestational hypertension, upper respiratory tract infections, and exposure to anti-inflammatory drugs in the first trimester of pregnancy. However, no statistically significant spatial or spatiotemporal clusters were identified in Poland.
Review
Pediatrics
Lyda Jadresic, Howard Au, Christopher Woodhouse, Dorothea Nitsch
Summary: The study found a positive association between maternal obesity and the risk of congenital abnormalities of the kidney and urinary tract (CAKUT), particularly in cases of congenital hydronephrosis and multicystic kidney dysplasia. This suggests a potential link between pre-pregnancy obesity and increased risk of CAKUT at the population level.
PEDIATRIC NEPHROLOGY
(2021)
Article
Obstetrics & Gynecology
Josefine Theresia Koenigbauer, Laura Fangmann, Charlotte Reinhardt, Alexander Weichert, Wolfgang Henrich, Biskup Saskia, Heinz-Peter Gabriel
Summary: Objectives and background: Congenital malformations of the kidney and urinary tract (CAKUT) are common and have a genetic basis. This study aimed to determine the phenotypic presentation of CAKUT cases and the results of exome analysis (WES). Methods: Retrospective analysis of 63 fetal cases with CAKUT or DSD diagnosis was conducted. Results: Out of 1123 matched CAKUT phenotypes, 63 cases (5.6%) had renal parenchyma malformations. Pathogenic variants were detected in 15 out of 63 WES analyses (23.8%). In fetuses with isolated CAKUT, the rate of detecting a pathogenic variant was 11.4%. Conclusions: WES can increase the diagnosis of pathogenic variants in prenatally detected CAKUT cases, especially in those with extra-renal malformations.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2023)
Article
Pediatrics
Elizabeth Spiwak, Corina Nailescu, Andrew Schwaderer
Summary: There is no significant difference in the occurrence of UTIs after kidney transplant between children with structural kidney disease and those with non-structural kidney disease.
FRONTIERS IN PEDIATRICS
(2022)
Article
Oncology
Jennifer Eymael, Martijn van den Broek, Laura Miesen, Valerie Villacorta Monge, Bartholomeus T. van den Berge, Fieke Mooren, Vicky Luna Velez, Jelmer Dijkstra, Meyke Hermsen, Peter Bandi, Michiel Vermeulen, Saskia de Wildt, Brigith Willemsen, Sandrine Florquin, Roy Wetzels, Eric Steenbergen, Rafael Kramann, Marcus Moeller, Michiel F. Schreuder, Jack Fm Wetzels, Johan van der Vlag, Jitske Jansen, Bart Smeets
Summary: Scattered tubular cells (STCs) in the proximal tubule increase in number after acute kidney injury. STCs are preferentially located within the inner bends of the tubule and their number increases with age. STCs represent a transient state of dedifferentiated proximal tubule epithelial cells (PTECs) showing metabolic shift towards glycolysis, facilitating cellular survival after kidney injury.
JOURNAL OF PATHOLOGY
(2023)
Letter
Urology & Nephrology
Michiel F. Schreuder
KIDNEY INTERNATIONAL
(2023)
Letter
Urology & Nephrology
Pierluigi Marzuillo, Anna Di Sessa, Stefano Guarino, Cesare Polito
KIDNEY INTERNATIONAL
(2023)
Article
Psychology, Experimental
Federico Adolfi, Todd Wareham, Iris van Rooij
Summary: This article discusses the importance of computational feasibility in natural and artificial intelligence. It emphasizes the need for a formal assessment of cognitive system capacities and the complexity of cognitive subcomputation, using segmentation as a case study to illustrate this point.
TOPICS IN COGNITIVE SCIENCE
(2023)
Article
Public, Environmental & Occupational Health
Anton Schreuder, Ibtissam Mokadem, Nori J. L. Smeets, Marc E. A. Spaanderman, Nel Roeleveld, Angela Lupattelli, Marleen M. H. J. van Gelder
Summary: The use of oral contraceptives before or after conception is associated with increased risks of pregnancy complications and adverse birth outcomes, with the specific risks varying depending on the timing of discontinuation and the content of hormones.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Pediatrics
Sander Groen In 't Woud, Nel Roeleveld, Iris A. L. M. van Rooij, Wout F. J. Feitz, Michiel Schreuder, Loes F. M. van der Zanden
Summary: This case-control study identified maternal stress as a new risk factor for congenital solitary functioning kidney (CSFK), and confirmed associations with in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI), maternal infections, smoking during pregnancy, and parental CAKUT. However, previous associations with diabetes and obesity were not replicated. Folic acid supplement use and younger maternal age seemed to reduce the risk of CSFK.
PEDIATRIC NEPHROLOGY
(2023)
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
Robotics
Todd Wareham, Ronald de Haan, Andrew Vardy, Iris van Rooij
Summary: Over the past 20 years, researchers have examined the interaction between humans and robot swarms in order to address the challenges of controlling and coordinating these swarms through either human teleoperation or fully autonomous methods. This article contributes to this research by analyzing the computational complexity of problems associated with algorithm, environmental influence, and leader selection methods in controlling swarms performing distributed construction tasks. The study finds that these problems are generally intractable, remaining so even under various plausible restrictions on robot controllers, environments, target structures, and swarm control commands. The implications of these findings for swarm control assistance software tools and human control of swarms are also discussed.
ACM TRANSACTIONS ON HUMAN-ROBOT INTERACTION
(2023)
Article
Transplantation
Sander Groen In 't Woud, Marleen M. H. J. van Gelder, Iris A. L. M. van Rooij, Wout F. J. Feitz, Nel Roeleveld, Michiel F. Schreuder, Loes F. M. van der Zanden
Summary: Congenital solitary functioning kidney is associated with hypertension, albuminuria, and chronic kidney disease. The study found that interactions between genetic and environmental factors, such as a specific gene mutation in conjunction with maternal overweight, may contribute to the etiology of CSFK. Further research is needed to explore these interactions and their potential impact on the development of the condition.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Urology & Nephrology
Sander Groen in 't Woud, Ilse M. Rood, Eric Steenbergen, Brigith Willemsen, Henry B. Dijkman, Michel van Geel, Jeroen Schoots, Jack F. M. Wetzels, Dorien Lugtenberg, Jeroen K. J. Deegens, Ernie M. H. F. Bongers
Summary: This study investigated the phenotypic spectrum, kidney biopsy results, and segregation patterns of patients with mono-allelic variants in COL4A3/COL4A4. The results showed wide variability in phenotypes, ranging from isolated microscopic hematuria to kidney failure. No genotype-phenotype correlations were found.