Article
Multidisciplinary Sciences
Rola Al Ghali, Carla El-Mallah, Omar Obeid, Ola El-Saleh, Linda Smail, Dalia Haroun
Summary: The urinary excretion of calcium, magnesium, and phosphorus among Emirati schoolchildren was found to be similar to levels in other countries. Fluoride excretion suggests that Emirati children have a low risk of fluorosis. The slightly elevated level of urinary iodine excretion requires close monitoring of salt iodization to prevent harmful effects of iodine overconsumption.
Review
Clinical Neurology
Sara A. Lewis, Sheetal Shetty, Bryce A. Wilson, Aris J. Huang, Sheng Chih Jin, Hayley Smithers-Sheedy, Michael C. Fahey, Michael C. Kruer
Summary: Genetic mutations play an important role in cerebral palsy, affecting the pathophysiology, with published results and criteria already established; Genes associated with CP can disrupt early brain development and are linked to environmental risk factors, as well as overlapping with other neurodevelopmental disorders; Identification of genetic etiologies improves our understanding of CP neurobiology, paving the way for mechanism-based interventions in the future.
FRONTIERS IN NEUROLOGY
(2021)
Article
Medicine, General & Internal
Xinru Guo, Wanling Wang, Yangyang Ma, Yanjun Liang, Yena Zhou, Guangyan Cai
Summary: This study examined the impact of 24-h urinary calcium excretion (UCaE) on renal function decline in hospitalized patients, including those with chronic kidney disease (CKD) and those without CKD. The results showed that increasing UCaE was associated with a decreased risk of renal function decline in both CKD and non-CKD patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Bingxin Zhao, Tengfei Li, Zirui Fan, Yue Yang, Juan Shu, Xiaochen Yang, Xifeng Wang, Tianyou Luo, Jiarui Tang, Di Xiong, Zhenyi Wu, Bingxuan Li, Jie Chen, Yue Shan, Chalmer Tomlinson, Ziliang Zhu, Yun Li, Jason L. Stein, Hongtu Zhu
Summary: Cardiovascular health is closely connected to cognitive and mental health. Through the use of multiorgan magnetic resonance imaging (MRI) data, we identified the genetic links between heart and brain systems. Our study revealed numerous associations between heart MRI traits and brain morphology, white matter structure, and functional networks. The shared genetic influences between cardiovascular and brain disorders were also observed. Our findings suggest a causal contribution of heart conditions to brain disorders, providing a comprehensive understanding of human health.
Review
Clinical Neurology
Ivana Dzinovic, Juliane Winkelmann, Michael Zech
Summary: Recent studies have found that neurodevelopmental abnormalities play a role in the pathophysiology of dystonia. Through whole-exome and whole-genome sequencing techniques, it has been discovered that over 50% of molecularly diagnosed dystonia cases may have variants in neurodevelopmental disorder-associated genes. Additionally, it has been shown that many newly reported monogenic neurodevelopmental disorders can present with prominent dystonic symptoms. These findings suggest that dystonia may be considered an expression of developmental brain dysfunction, highlighting the relationship between dystonia and neurodevelopmental disorders.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Endocrinology & Metabolism
Jing Liu, Maria Clarissa Tio, Ashish Verma, Insa M. Schmidt, Titilayo O. Ilori, Felix Knauf, Finnian R. Mc Causland, Sushrut S. Waikar
Summary: This study aimed to investigate predictors of urinary calcium excretion and its association with adverse clinical outcomes in chronic kidney disease (CKD). The results showed that estimated glomerular filtration rate (eGFR) was positively correlated with 24-hour urinary calcium excretion. The determinants of urinary calcium excretion differed between sexes and levels of CKD. Lower urinary calcium excretion was associated with higher risks of adverse outcomes, but these associations were greatly attenuated or nullified after adjustment for baseline eGFR.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Suyan Duan, Lianqin Sun, Huanhuan Zhu, Guangyan Nie, Chengning Zhang, Zhimin Huang, Bo Zhang, Changying Xing, Yanggang Yuan
Summary: In patients with T2DM, higher urinary calcium and phosphorus excretion were associated with a decreased risk of CKD progression, especially in patients with non-diabetic kidney disease (NDKD). This study suggests a potential protective effect of urinary calcium and phosphorus excretion on CKD progression in T2DM patients.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2021)
Review
Pharmacology & Pharmacy
Platon Megagiannis, Rahul Suresh, Guy A. Rouleau, Yang Zhou
Summary: This article reviews the progress in the diagnosis, etiology discovery, modeling, and mechanistic understanding of neurodevelopmental disorders (NDDs) from both fundamental and clinical research. It introduces breakthroughs in the reversal studies of NDDs using genetically engineered models and discusses the application and challenges of cutting-edge technologies in NDDs therapeutic development.
ADVANCED DRUG DELIVERY REVIEWS
(2022)
Article
Biochemistry & Molecular Biology
Justin J. Lee, Jawad Alzamil, Saba Rehman, Wanling Pan, Henrik Dimke, R. Todd Alexander
Summary: Activation of the basolateral calcium sensing receptor (CaSR) increases claudin-14 expression in the renal tubular thick ascending limb (TAL), leading to reduced paracellular calcium permeability and increased urinary Ca2+ excretion. This process involves signaling through PLC-stimulated p38 pathway and inhibition of Sp1-mediated repression.
Article
Multidisciplinary Sciences
Douglas Miller, Bryony Eagle-Hemming, Sophia Sheikh, Lathishia Joes-David, Adewale Adebayo, Florence Lai, Marius Roman, Tracy Kumar, Hardeep Aujla, Gavin Murphy, Marcin Wozniak
Summary: This study found that measuring changes in urinary levels of extracellular vesicles (EVs) and microRNAs (miRs) can predict the onset of acute kidney injury (AKI) in cardiac surgery patients. Pre-operative levels of podocalyxin-positive EVs, urinary particle concentrations, and miR-125a-5p have moderate predictive value for AKI. These findings suggest that urinary EVs and miRs may serve as potential biomarkers for AKI prediction in cardiac surgery patients.
SCIENTIFIC REPORTS
(2022)
Article
Urology & Nephrology
Jaime Uribarri, David S. Goldfarb, Kalani L. Raphael, Joshua L. Rein, John R. Asplin
Summary: Ammonium is an important parameter in urine that can provide important clues about the causes of metabolic acidosis. The urinary anion gap (UAG) is not a good predictor of UNH4, and measuring UNH4 is important in clinical nephrology.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2022)
Review
Hematology
Cornelis P. Tensen, Koen D. Quint, Maarten H. Vermeer
Summary: Significant progress has been made in understanding the pathogenesis of CTCLs in recent years, thanks to advancements in CTCL classifications and technical innovations. These studies have revealed extensive heterogeneity between different CTCL subtypes and identified recurrent alterations that are highly characteristic for specific diagnostic subgroups. These findings have potential implications for the development of targeted therapeutic strategies.
Article
Veterinary Sciences
L. Cheng, C. L. Goulven, B. R. Cullen, C. Clark, P. Gregorini, X. Z. Sun, S. Talukder
Summary: Climate variability and increasing drought events have raised concerns about body weight change in dairy heifers. This study examined the effects of grazing on drought-impacted pastures on dry matter intake, body weight change, urinary nitrogen excretion, and grazing behaviors of high and low genetic merit dairy heifers. The results showed higher nitrogen intake and urinary nitrogen excretion in high genetic merit heifers, but no advantages were found in terms of body weight performance.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Article
Endocrinology & Metabolism
Eric T. Rush, Britt Johnson, Swaroop Aradhya, Daniel Beltran, Sara L. Bristow, Scott Eisenbeis, Norma E. Guerra, Stan Krolczyk, Nicole Miller, Ana Morales, Prameela Ramesan, Soodabeh Sarafrazi, Rebecca Truty, Kathryn Dahir
Summary: X-linked hypophosphatemia (XLH) is a dominant genetic disorder caused by pathogenic variants in the PHEX gene, leading to symptoms such as rickets, osteomalacia, short stature, and musculoskeletal issues. A free genetic sequencing test was found to help confirm clinical diagnosis of XLH, and the study identified numerous novel variants in XLH genetics research.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Multidisciplinary Sciences
Anika Singanayagam, Dimitra Klapsa, Shirelle Burton-Fanning, Julian Hand, Thomas Wilton, Laura Stephens, Ryan Mate, Benjamin Shillitoe, Cristina Celma, Mary Slatter, Terry Flood, Robin Gopal, Javier Martin, Maria Zambon
Summary: Increasing detections of vaccine-derived poliovirus (VDPV) globally, including in countries previously declared polio free, is a public health emergency of international concern. Individuals with primary immunodeficiency (PID) can excrete polioviruses for prolonged periods, which could act as a source of cryptic transmission of viruses with potential to cause neurological disease. Systematic collection of stool from asymptomatic PID patients who are at high risk for poliovirus excretion could improve the ability to detect and contain iVDPVs.
NATURE COMMUNICATIONS
(2023)
Article
Physiology
Kristina S. LyngsO, Boye L. Jensen, Pernille B. L. Hansen, Henrik Dimke
Summary: The study found that aldosterone impairs endothelial function in a murine model of experimental diabetes through activation of endothelial cell mineralocorticoid receptors. This may explain the cardiovascular protection by mineralocorticoid receptor antagonists in diabetes.
Review
Physiology
R. T. Alexander, D. G. Fuster, H. Dimke
Summary: Nephrolithiasis is a global problem with calcium-containing kidney stones being the most common type. Hypercalciuria is the main risk factor for kidney stone formation. Understanding the mechanisms of renal calcium transport, as well as intestinal absorption and bone mobilization of calcium, is crucial for improving treatment and prevention of kidney stone formation.
ANNUAL REVIEW OF PHYSIOLOGY
(2022)
Article
Urology & Nephrology
Wouter H. van Megen, Megan R. Beggs, Sung-Wan An, Patricia G. Ferreira, Justin J. Lee, Matthias T. Wolf, R. Todd Alexander, Henrik Dimke
Summary: Through animal experiments and cell studies, it was found that gentamicin does not cause hypercalciuria by activating the CaSR-CLDN14 pathway or interfering with proximal tubular CLDN2-dependent calcium reabsorption, but rather by directly inhibiting the calcium channel TRPV5 in the distal nephron.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Multidisciplinary Sciences
Mikkel O. Norgard, Lasse B. Steffensen, Didde R. Hansen, Ernst-Martin Fuchtbauer, Morten B. Engelund, Henrik Dimke, Ditte C. Andersen, Per Svenningsen
Summary: The study successfully created an EV reporter mouse model that allows for Cre-dependent labeling of extracellular vesicles (EVs), enabling the study of cell-specific EVs in vivo and gaining insights into their physiological and pathophysiological function.
SCIENTIFIC REPORTS
(2022)
Editorial Material
Physiology
Henrik Dimke
Meeting Abstract
Biochemistry & Molecular Biology
Wouter H. van Megen, Megan R. Beggs, Sung-Wan An, Patricia G. Ferreira, Justin J. Lee, Matthias T. Wolf, R. T. Alexander, Henrik Dimke
Article
Biochemistry & Molecular Biology
Megan R. Beggs, Harneet Bhullar, Henrik Dimke, R. Todd Alexander
Summary: This article explores the role of the colon in maintaining calcium balance, highlighting the importance of colonic calcium absorption and describing the regulation of transcellular calcium absorption and paracellular calcium flux in the colon.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2022)
Article
Pediatrics
Jens Michael Hertz, Per Svenningsen, Henrik Dimke, Morten Buch Engelund, Hanne Norgaard, Anita Hansen, Niels Marcussen, Helle Charlotte Thiesson, Carsten Bergmann, Martin J. Larsen
Summary: We identified two different homozygous DZIP1L sequence variants: c.193 T > C; p.(Cys65Arg), and c.216C > G; p.(Cys72Trp) in four children with polycystic kidney disease. Functional analysis showed that the c.216C > G; p.(Cys72Trp) variant caused mislocalization of mutant DZIP1L. Our results suggest that the N-terminal domain plays a critical role in protein function. Including DZIP1L in multigene panels and whole-exome sequencing analysis is important for the diagnosis of cystic kidney diseases.
PEDIATRIC NEPHROLOGY
(2022)
Review
Physiology
R. Todd Alexander, Henrik Dimke
Summary: Central to the maintenance of calcium homeostasis is the regulated reabsorption of calcium along the nephron. Parathyroid hormone (PTH) acts through the PTH 1 receptor along the nephron to increase urinary phosphate excretion and decrease urinary calcium excretion. PTH inhibits phosphate reabsorption in the proximal tubule, decreases calcium reabsorption in the proximal tubule and increases calcium permeability in the thick ascending limb, and increases transcellular calcium reabsorption in the distal convolution.
Editorial Material
Physiology
Henrik Dimke
Article
Multidisciplinary Sciences
Henrik Dimke, Camille Griveau, Wung-Man Evelyne Ling, Gaelle Brideau, Lydie Cheval, Pravina Muthan, Dominik Mueller, Amr Al-Shebel, Pascal Houillier, Caroline Prot-Bertoye
Summary: The kidney plays a critical role in maintaining mineral balance in the body. Dysregulation of calcium and magnesium reabsorption in the renal tubules can lead to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), which is characterized by excessive wasting of calcium and magnesium. This study investigated the localization of claudin-19 (CLDN19), a protein involved in mineral reabsorption, in the kidneys and found that it is primarily located in the basolateral membrane of the renal tubules. Additionally, the study showed that CLDN19 interacts with claudin-16 (CLDN16) to regulate permeability in the tubules. These findings provide insights into the pathophysiology of FHHNC and highlight the importance of CLDN19 in maintaining mineral homeostasis in the kidney.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2023)
Editorial Material
Physiology
Henrik Dimke
Article
Physiology
Tate MacDonald, Megan R. Beggs, Debbie O'Neill, Kenji Kozuka, Henrik Dimke, R. Todd Alexander
Summary: Phosphorus is crucial for bone growth and young mice increase phosphorus absorption through both paracellular and transcellular pathways, while adult mice rely on the NaPiIIb-mediated transcellular pathway. The study shows that young mice have higher paracellular permeability and increased expression of NaPiIIb, leading to enhanced phosphorus absorption.
Review
Urology & Nephrology
Forough Chelangarimiyandoab, Priyanka Mungara, Manav Batta, Emmanuelle Cordat
Summary: Urinary tract infections are common in women, with more than 1 in 2 women experiencing it at some point in their lives. A significant proportion of these patients carry antibiotic-resistant strains, emphasizing the need for alternative treatments. This review focuses on the role of collecting duct intercalated cells in bacterial clearance in the urinary tract, highlighting the potential for new therapeutic strategies.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Cell Biology
Megan R. Beggs, Kennedi Young, Allen Plain, Debbie D. O'Neill, Ahsan Raza, Veit Flockerzi, Henrik Dimke, R. Todd Alexander
Summary: We found that intestinal permeability to calcium is higher in suckling animals due to increased expression of claudin-2, a calcium channel protein, which is stimulated by epidermal growth factor (EGF) in breast milk. Loss of the claudin-2 pathway leads to decreased bone mineralization in 2-week-old mice.
