Article
Biochemistry & Molecular Biology
Pedro Antunes Pousa, Tamires Sara Campos Mendonca, Larissa Marques Fonseca, Eduardo Araujo Oliveira, Andre Rolim Belisario, Ana Cristina Simoes e Silva
Summary: This study aimed to evaluate the association between ACE gene I/D polymorphisms, circulating levels of Ang II, and CAKUT. The study concluded that ACE I/D polymorphisms were not associated with CAKUT or specific CAKUT phenotypes, and there were no significant differences in plasma levels of Ang II between CAKUT patients and controls.
MOLECULAR BIOLOGY REPORTS
(2022)
Review
Medicine, General & Internal
Daisuke Tamura, Shintaro Narita, Misa Yamauchi, Rina Watanabe, Shota Yokoyama, Akane Kikuchi, Akihiro Shitara, Syuji Chiba, Fumiko Saito, Akihiro Sugita, Kazunari Sato, Akihiro Karube
Summary: This article reports a case of giant hydronephrosis associated with ureteropelvic junction obstruction detected during pregnancy, which was treated conservatively and underwent surgical treatment after delivery, and provides a literature review on the related topics.
Article
Pediatrics
Martina Frech-Doerfler, Sabrina Durand, Friederike Pruefer, Stefan Holland-Cunz, Christoph Rudin
Summary: This case report describes a baby boy with prenatal bilateral giant hydronephrosis, highlighting the successful treatment and restoration of kidney function through emergency interventions.
Article
Multidisciplinary Sciences
Zsuzsa Bartik, Ulla Sillen, Anna Djos, Anna Lindholm, Susanne Fransson
Summary: Vesicoureteral reflux (VUR) is a common urological problem in children with a hereditary nature. Whole-exome sequencing in 13 large families with at least three affected cases revealed 23 deleterious variants in 19 candidate genes associated with VUR or nephrogenesis. This study demonstrates a likely causal gene variant in 23% of the families and highlights the usefulness of whole-exome sequencing in understanding the pathogenesis and improving molecular diagnostics of VUR.
Article
Pediatrics
Maria Beatrice Damasio, Fiammetta Sertorio, Michela Cing Yu Wong, Irene Campo, Marcello Carlucci, Luca Basso, Lorenzo Anfigeno, Monica Bodria, Angela Pistorio, Giorgio Piaggio, Gian Marco Ghiggeri, Girolamo Mattioli
Summary: This study aims to introduce a new radiological score based on fMRU findings to differentiate surgical from non-surgical kidneys with UPJO. The study found that urographic phase, presence of abnormal vessels, and baseline anterior-posterior pelvic diameter >23 mm were significantly associated with surgery. The score showed high sensitivity and specificity in distinguishing surgical from non-surgical kidneys.
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
Pediatrics
Vijaya M. Vemulakonda
Summary: Ureteropelvic junction obstruction (UPJO) is a common cause of prenatal diagnosed hydronephrosis, with recent studies focusing on the use of ultrasound classification systems and MRI to stratify the risk in infants. Urinary biomarkers have also shown potential as a noninvasive alternative in identifying infants with clinically significant UPJO. Further research is needed to establish clear guidelines for evaluation and treatment to improve long-term outcomes for these patients.
CURRENT OPINION IN PEDIATRICS
(2021)
Article
Public, Environmental & Occupational Health
Jei-Wen Chang, Chin-Su Liu, Hsin-Lin Tsai
Summary: This study investigated the clinical factors associated with vesicoureteral reflux (VUR) in Taiwanese children with a first documented urinary tract infection (UTI). The results showed that age <1 year, renal anomalies, hydronephrosis, duplex collecting system/ectopic kidney/ectopic ureter, neuropathic bladder, and spina bifida were independent factors for VUR. Early diagnosis of VUR through ultrasound and voiding cystourethrography is important to prevent renal damage.
CLINICAL EPIDEMIOLOGY
(2022)
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
Masato Watanabe, Kaoru Yoshino, Yoshikazu Tsuji, Kimihiko Moriya, Yoshiaki Kinoshita, Tomoaki Taguchi, Takeshi Furuya, Takayuki Masuko, Kenichi Nishimura, Toshio Kamimura, Minoru Miyazato, Toshihiko Itesako, Takashi Ikeda, Yuichiro Yamazaki, Yasuyuki Naito, Yasuhiro Yamada, Yasuyuki Akita, Kenichi Mori, Fumi Matsumoto, Kazuyoshi Johnin, Akihiro Kawauchi, Kenichi Kobayashi, Sayaka Akiyama, Kenji Obara, Takashi Akiyama, Yoshifumi Sugita, Toshihiro Yanai, Morimichi Tani, Takashi Obara, Takaaki Imaizumi, Masahiko Urao, Yuki Ogasawara, Miyuki Kohno, Katsuji Yamauchi, Takeo Yonekura, Kiyoshi Sasaki, Takaharu Ichikawa, Takao Fujimoto, Shuji Sugimoto, Akira Tohda, Midori Ichino, Takafumi Goto, Yoshitsugu Nasu, Wataru Sakamoto, Yoshiki Morotomi, Hiroshi Murakami, Manabu Okawada, Atsuyuki Yamataka, Takuo Noda, Yutaro Hori, Kensuke Ohashi, Yoshinobu Iwamura, Hideshi Miyakita, Yutaka Hayashi, Hiroyuki Satoh, Osamu Segawa, Ryusuke Yamaguchi, Rie Yago
Summary: This study presents the results of a multi-institutional outcome analysis of endoscopic Deflux (R) injection for treating primary vesicoureteral reflux in Japan. The study found that Deflux (R) is the first-line treatment for primary vesicoureteral reflux in Japan and has a high cure rate.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Jia-Lu Liu, Qian Shen, Ming-Yan Wu, Guang-Hua Zhu, Yu-Feng Li, Xiao-Wen Wang, Xiao-Shan Tang, Yun-Li Bi, Yi-Nv Gong, Jing Chen, Xiao-Yan Fang, Yi-Hui Zhai, Bing-Bing Wu, Guo-Min Li, Yu-Bo Sun, Xiao-Jie Gao, Cui-Hua Liu, Xiao-Yun Jiang, Sheng Hao, Yu-Lin Kang, Ying-Liang Gong, Li-Ping Rong, Di Li, Si Wang, Duan Ma, Jia Rao, Hong Xu
Summary: Primary vesicoureteral reflux (VUR) is a common congenital anomaly in children, and this study identified genetic factors contributing to the condition. PAX2, TNXB, GATA3, and SLIT2 were found to be major genes associated with VUR, impacting renal survival. Extrarenal complications and impaired renal function were related to genetic factors, suggesting multiple genes may be responsible for isolated VUR.
WORLD JOURNAL OF PEDIATRICS
(2021)
Article
Biotechnology & Applied Microbiology
Shaokai Zheng, Pedro Amado, Dominik Obrist, Fiona Burkhard, Francesco Clavica
Summary: In this study, a simple in vitro bladder model was designed to simulate the dynamics of filling and voiding. The physio-mechanical condition of the model was verified using pressure-flow and reflux tests. Encrustation tests with artificial urine on double-J stents were conducted using the model, and the volumes of luminal encrustations were quantified. The results suggest that VUR is an important factor contributing to the dynamics in the upper urinary tract with indwelling stents, emphasizing its significance in future in vitro studies and clinical analyses.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Engineering, Biomedical
Jihun Lee, Jaebum Sung, Jung Ki Jo, Hongyun So
Summary: This paper presents novel umbrella-shaped flexible devices for preventing vesicoureteral reflux, particularly in patients with urinary stones. The devices mechanically attach to the stent and have been shown to be effective through experiments. The penta-shaped device exhibited the best anti-reflux performance, with maximum efficiency achieved when attached at a specific location.
INTERNATIONAL JOURNAL OF BIOPRINTING
(2022)
Article
Medicine, Research & Experimental
Wenbin Fu, Haibin Chen, Congcong Ren, Jianjun Zhao
Summary: Ureteropelvic junction obstruction (UPJO) is a common congenital malformation of the urinary system, often combined with hydronephrosis and kidney stones. This report describes a rare case of bilateral UPJO combined with bilateral renal stones, successfully treated with laparoscopy and ureteroscopy one-stage surgery.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2022)
Article
Medicine, General & Internal
Pierluigi Marzuillo, Pier Luigi Palma, Anna Di Sessa, Agnese Roberti, Giovanni Torino, Maeva De Lucia, Emanuele Miraglia del Giudice, Stefano Guarino, Giovanni Di Iorio
Summary: The aim of this study was to determine whether early measurements of serum aldosterone levels or plasmatic renin activity (PRA) could predict the need for surgical intervention in infants with obstructive congenital anomalies of kidney and urinary tract (CAKUT). A total of 20 infants aged 1-3 months with suspected obstructive CAKUT were prospectively enrolled and followed up for 2 years. The results showed that infants who required surgery had significantly higher levels of aldosterone at 1-3 months compared to those who did not require surgery (p = 0.006). The ROC curve analysis identified a cut-off of 100 ng/dL for aldosterone, which predicted the need for surgery with 100% sensitivity and 64.3% specificity. However, PRA measured at 1-3 months was not a predictor of surgery. In conclusion, early measurements of serum aldosterone levels can serve as a predictor for surgical intervention in infants with obstructive CAKUT.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Genetics & Heredity
Gabriel C. Dworschak, Jaya Punetha, Jeshurun C. Kalanithy, Enrico Mingardo, Haktan B. Erdem, Zeynep C. Akdemir, Ender Karaca, Tadahiro Mitani, Dana Marafi, Jawid M. Fatih, Shalini N. Jhangiani, Jill V. Hunter, Tikam Chand Dakal, Bhanupriya Dhabhai, Omar Dabbagh, Hessa S. Alsaif, Fowzan S. Alkuraya, Reza Maroofian, Henry Houlden, Stephanie Efthymiou, Natalia Dominik, Vincenzo Salpietro, Tipu Sultan, Shahzad Haider, Farah Bibi, Holger Thiele, Julia Hoefele, Korbinian M. Riedhammer, Matias Wagner, Ilaria Guella, Michelle Demos, Boris Keren, Julien Buratti, Perrine Charles, Caroline Nava, Delphine Heron, Solveig Heide, Elise Valkanas, Leigh B. Waddell, Kristi J. Jones, Emily C. Oates, Sandra T. Cooper, Daniel MacArthur, Steffen Syrbe, Andreas Ziegler, Konrad Platzer, Volkan Okur, Wendy K. Chung, Sarah A. O'Shea, Roy Alcalay, Stanley Fahn, Paul R. Mark, Renzo Guerrini, Annalisa Vetro, Beth Hudson, Rhonda E. Schnur, George E. Hoganson, Jennifer E. Burton, Meriel McEntagart, Tobias Lindenberg, Oeznur Yilmaz, Benjamin Odermatt, Davut Pehlivan, Jennifer E. Posey, James R. Lupski, Heiko Reutter
Summary: The study found that different PLXNA1 variants can cause a neurodevelopmental syndrome, with main symptoms including developmental delay, brain, and eye anomalies. Biallelic variants may impact receptor molecule function, while monoallelic variants may interfere with downstream signaling through a dominant-negative effect.
GENETICS IN MEDICINE
(2021)
Letter
Pediatrics
Daniela Hainz, Marcus Krueger, Daniela Reber, Karl Mehnert, Theresa Brunet, Gabriele Lederer, Sabine Langer-Freitag, Julia Hoefele
WORLD JOURNAL OF PEDIATRICS
(2021)
Article
Genetics & Heredity
Michaela Stippel, Korbinian M. Riedhammer, Barbel Lange-Sperandio, Michaela Gessner, Matthias C. Braunisch, Roman Gunthner, Martin Bald, Miriam Schmidts, Peter Strotmann, Velibor Tasic, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Julia Hoefele
Summary: This study investigated the presence of skeletal anomalies as an extrarenal manifestation in individuals with hereditary podocytopathies, ciliopathies or CAKUT, finding that 12% of the cohort presented with both kidney disease and additional skeletal phenotypes. Pathogenic variants in known disease-associated genes were identified in 63% of these cases, highlighting the genetic heterogeneity and clinical variability of hereditary nephropathies.
FRONTIERS IN GENETICS
(2021)
Article
Cardiac & Cardiovascular Systems
Brian D. Piening, Alexa K. Dowdell, Mengqi Zhang, Bao-Li Loza, David Walls, Hui Gao, Maede Mohebnasab, Yun Rose Li, Eric Elftmann, Eric Wei, Divya Gandla, Hetal Lad, Hassan Chaib, Nancy K. Sweitzer, Mario Deng, Alexandre C. Pereira, Martin Cadeiras, Abraham Shaked, Michael P. Snyder, Brendan J. Keating
Summary: The current clinical standard-of-care for heart transplant acute rejection (AR) relies on histopathological assessment, but this study demonstrates that adding RNA sequencing analysis of endomyocardial biopsies (EMBs) can improve the sensitivity and specificity of diagnosis. Furthermore, the study shows that transcriptional hallmarks of rejection can be detected months before the actual event, which is not visible using traditional histopathology.
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2022)
Article
Transplantation
Jan Boeckhaus, Julia Hoefele, Korbinian M. Riedhammer, Mato Nagel, Bodo B. Beck, Mira Choi, Maik Gollasch, Carsten Bergmann, Joseph E. Sonntag, Victoria Troesch, Johanna Stock, Oliver Gross
Summary: Early therapy in Alport syndrome individuals with missense variants may delay renal failure, improve life expectancy, and enhance quality of life.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Editorial Material
Biochemistry & Molecular Biology
Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata S. Lipska-Zietkiewicz, Julia Hoefele, Frances Flinter, Daniel P. Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torra, Jeff H. Miner, Laura Massella, Danica Galesic Ljubanovic, Rachel Lennon, Andre B. Weinstock, Bertrand Knebelmann, Agne Cerkauskaite, Susie Gear, Oliver Gross, A. Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri
Summary: Alport syndrome is an inherited kidney disease that affects males more severely than females and is sometimes associated with hearing loss. Three genes responsible for the disease were discovered in the late twentieth century. The international workshops in 2019 and 2021 discussed various topics related to the syndrome, including disease renaming, increasing the diagnostic rate, genotype-phenotype correlation, new therapeutics, and gene therapy.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Winston R. Becker, Stephanie A. Nevins, Derek C. Chen, Roxanne Chiu, Aaron M. Horning, Tuhin K. Guha, Rozelle Laquindanum, Meredith Mills, Hassan Chaib, Uri Ladabaum, Teri Longacre, Jeanne Shen, Edward D. Esplin, Anshul Kundaje, James M. Ford, Christina Curtis, Michael P. Snyder, William J. Greenleaf
Summary: Single-cell ATAC-seq and RNA-seq profiling were used to study the transformation process from healthy colon to precancerous adenomas to colorectal cancer. Most of the polyp and CRC cells exhibited a stem-like phenotype. The study identified a continuum of epigenetic and transcriptional changes that occur in stem-like cells as they progress from homeostasis to CRC. The results also revealed the presence of T cell exhaustion and specific fibroblast subtypes in advanced polyps and cancerous states. Additionally, DNA methylation changes were found to be negatively correlated with accessibility changes, providing potential regulatory markers for polyp staging.
Article
Materials Science, Multidisciplinary
A. El Kissani, D. Ait Elhaj, S. Drissi, A. Abali, A. Agdad, H. Ait Dads, L. Nkhaili, A. El Mansouri, H. Chaib, K. El Assali, A. Outzourhit
Summary: This study investigated the deposition of copper-cobalt tin sulfide thin films using a sol-gel spin-coating method. The annealing process at 300 degrees C in a nitrogen atmosphere for 60 minutes was found to produce pure CCTS thin films with promising properties for low-cost thin-film solar cells.
Correction
Biochemistry & Molecular Biology
Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata S. Lipska-Zietkiewicz, Julia Hoefele, Frances Flinter, Daniel P. Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torra, Jeff H. Miner, Laura Massella, Danica Galesic Ljubanovic, Rachel Lennon, Andre B. Weinstock, Bertrand Knebelmann, Agne Cerkauskaite, Susie Gear, Oliver Gross, A. Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Physics, Condensed Matter
Said Amounas, Abdellah Hbab, Hassan Chaib, Thami Ait-Taleb
Summary: In this study, the structural, electrical, and optical properties of barium titanate (BaTiO3) and lead titanate (PbTiO3) were investigated using the plane wave pseudopotential method and the PBESOL approximation in the framework of density functional theory (DFT). The calculations using different types of pseudopotentials show good agreement with experimental values, especially for ultrasoft pseudopotentials (USPP) and projector-augmented wave (PAW) pseudopotentials.
PHYSICA B-CONDENSED MATTER
(2023)
Article
Medicine, Research & Experimental
Jennifer A. Schaub, Fadhl M. AlAkwaa, Phillip J. McCown, Abhijit S. Naik, Viji Nair, Sean Eddy, Rajasree Menon, Edgar A. Otto, Dawit Demeke, John Hartman, Damian Fermin, Christopher L. O'Connor, Lalita Subramanian, Markus Bitzer, Roger Harned, Patricia Ladd, Laura Pyle, Subramaniam Pennathur, Ken Inoki, Jeffrey B. Hodgin, Frank C. Brosius III, Robert G. Nelson, Matthias Kretzler, Petter Bjornstad
Summary: This study analyzed kidney biopsies from type 2 diabetes patients and healthy controls, and found that SGLT2 inhibitor treatment mitigates diabetes-induced metabolic perturbations through suppression of the mTORC1 signaling pathway in kidney tubules. The treatment with SGLT2 inhibitors also affected transcriptional processes in different segments of the renal tubules.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Materials Science, Multidisciplinary
Mourad Najjaoui, Thami Ait-Taleb, Abdelhalim Abdelbaki, Zaki Zrikem, Hassan Chaib
Summary: This study optimizes the geometry of concrete hollow bricks to increase thermal resistance and reduce energy consumption. The aspect ratio does not affect the nature of fluid flow, but it does affect the extension of circulation cells. Cavities with a large aspect ratio significantly reduce heat transfer.
FDMP-FLUID DYNAMICS & MATERIALS PROCESSING
(2022)
Article
Materials Science, Multidisciplinary
Mourad Najjaoui, Thami Ait-taleb, Abdelhalim Abdelbaki, Zaki Zrikem, Hassan Chaib
Summary: This work presents steady-state numerical simulations on heat transfer in hollow blocks, considering the influence of coupled natural convection, conduction, and radiation. The study reveals that the number of holes in the hollow blocks has a significant impact on the heat transfer.
FDMP-FLUID DYNAMICS & MATERIALS PROCESSING
(2022)
Article
Endocrinology & Metabolism
Hendrik Vossschulte, Konrad Mohnike, Klaus Mohnike, Katharina Warncke, Ayse Akcay, Martin Zenker, Ilse Wieland, Ina Schanze, Julia Hoefele, Christine Foerster, Winfried Barthlen, Kim Stahlberg, Susann Empting
Summary: This case report discusses a patient with CHI. The study found two activity peaks in the patient's pancreas, and surgical resection of these areas resulted in normalized blood sugar levels. Analysis of tissue samples indicated that a second genetic hit in pancreatic precursor cells was responsible for the atypical pancreatic lesion. The study confirms that the resection of focal lesions can lead to complete cure in CHI patients.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Article
Biochemistry & Molecular Biology
Bart Appelhof, Matias Wagner, Julia Hoefele, Anja Heinze, Timo Roser, Margarete Koch-Hogrebe, Stefan D. Roosendaal, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Erin Torti, Henry Houlden, Reza Maroofian, Farrah Rajabi, Heinrich Sticht, Frank Baas, Dagmar Wieczorek, Rami Abou Jamra
Summary: This study describes eight children with Pontocerebellar hypoplasia (PCH) from four unrelated families carrying homozygous variants in the MINPP1 gene. These variants result in either a complete absence of MINPP1, impaired protein folding, destabilization of protein structure or reduction in protein stability, leading to the pathogenesis of the disease. This study presents MINPP1 as a novel autosomal recessive gene associated with PCH.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
