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Dent's disease

Kms Kanhai, S C Goulooze, J Stevens, J L Hay, G Dent, A Verma, T Hankemeier, T de Boer, H Meijering, J C Chavez, A F Cohen, G J Groeneveld
Therapeutics promoting myelin synthesis may enhance recovery in demyelinating diseases, such as multiple sclerosis. However, no suitable method exists to quantify myelination. The turnover of galactosylceramide (myelin component) is indicative of myelination in mice, but its turnover has not been determined in humans. Here, six healthy subjects consumed 120 mL 70% D2 O daily for 70 days to label galactosylceramide. We then used mass spectrometry and compartmental modeling to quantify the turnover rate of galactosylceramide in cerebrospinal fluid...
October 15, 2016: Clinical and Translational Science
Terry McCormack, Ricardo Dent, Mark Blagden
BACKGROUND: Cardiovascular disease (CVD) is the leading cause of death in Europe and increased low-density lipoprotein cholesterol (LDL-C) is a major contributor to CVD risk. Extensive evidence from clinical studies of statins has demonstrated a linear relationship between LDL-C levels and CVD risk. It has been proposed that lower LDL-C levels than those currently recommended may provide additional clinical benefit to patients. AIM: This review summarises the genetic and clinical evidence on the efficacy and safety of achieving very low LDL-C levels...
October 14, 2016: International Journal of Clinical Practice
Maciej Banach, Tomas Stulc, Ricardo Dent, Peter P Toth
Although statin therapy has proven to be the cornerstone for prevention and treatment of cardiovascular disease (CVD), there are many patients for whom long-term therapy remains suboptimal. The aims of this article are to review the current complex issues associated with statin use and to explore when novel treatment approaches should be considered. Statin discontinuation as well as adherence to statin therapy remain two of the greatest challenges for lipidologists. Evidence suggests that between 40 and 75% of patients discontinue their statin therapy within one year after initiation...
September 26, 2016: International Journal of Cardiology
Marcin Zaniew, Arend Bökenkamp, Marcin Kołbuc, Claudio La Scola, Federico Baronio, Anna Niemirska, Maria Szczepańska, Julia Bürger, Angela La Manna, Monika Miklaszewska, Anna Rogowska-Kalisz, Jutta Gellermann, Argyroula Zampetoglou, Anna Wasilewska, Magdalena Roszak, Jerzy Moczko, Aleksandra Krzemień, Dariusz Runowski, Grzegorz Siteń, Iga Załuska-Leśniewska, Patrizia Fonduli, Franca Zurrida, Fabio Paglialonga, Zoran Gucev, Dusan Paripovic, Rina Rus, Valerie Said-Conti, Lisa Sartz, Woo Yeong Chung, Se Jin Park, Jung Won Lee, Yong Hoon Park, Yo Han Ahn, Przemysław Sikora, Constantinos J Stefanidis, Velibor Tasic, Martin Konrad, Franca Anglani, Maria Addis, Hae Il Cheong, Michael Ludwig, Detlef Bockenhauer
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. METHODS: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization...
October 5, 2016: Nephrology, Dialysis, Transplantation
William Wong, Gemma Poke, Maria Stack, Tonya Kara, Chanel Prestidge, Kim Flintoff
BACKGROUND: Dent disease 1 is a rare cause of chronic kidney disease (CKD) in childhood secondary to mutations in the gene encoding the chloride-proton exchanger, CLC-5, which is found mainly in the proximal tubule. Clinical manifestations are variable and there are no known genotype-phenotype correlations. CASE DIAGNOSIS/TREATMENT: The proband was identified as having a mutation in CLCN5. The extended family of the proband was invited to participate in a study of Dent disease after several males were noted to have a history of CKD...
October 3, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Xiangling Wang, Franca Anglani, Lada Beara-Lasic, Anila J Mehta, Lisa E Vaughan, Loren Herrera Hernandez, Andrea Cogal, Steven J Scheinman, Gema Ariceta, Robert Isom, Lawrence Copelovitch, Felicity T Enders, Dorella Del Prete, Giuseppe Vezzoli, Fabio Paglialonga, Peter C Harris, John C Lieske
BACKGROUND AND OBJECTIVES: Dent disease is a rare X-linked disorder characterized by low molecular weight proteinuria and often considered a renal tubular disease. However, glomerulosclerosis was recently reported in several patients. Thus, Dent disease renal histopathologic features were characterized and assessed, and their association with kidney function was assessed. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Clinical renal pathology reports and slides (where available) were collected from 30 boys and men in eight countries who had undergone clinical renal biopsy between 1995 and 2014...
October 3, 2016: Clinical Journal of the American Society of Nephrology: CJASN
Yoshio Ikeda, Shinya Furukawa, Takenori Sakai, Tetsuji Niiya, Hiroaki Miyaoka, Teruki Miyake, Shin Yamamoto, Hidenori Senba, Yasunori Yamamoto, Eiji Arimitsu, Sen Yagi, Hiroki Utsunomiya, Keiko Tanaka, Eiji Takeshita, Bunzo Matsuura, Yoshihiro Miyake, Yoichi Hiasa
BACKGROUND: Only limited epidemiological evidence exists regarding the relationship between age and gastroesophageal reflux disease (GERD) among Japanese patients with type 2 diabetes mellitus. AIM: The purpose of the present study is to investigate this issue among Japanese patients with type 2 diabetes mellitus. METHODS: A multicenter cross-sectional study was conducted in 847 Japanese patients with type 2 diabetes mellitus. Subjects were divided into quartiles according to age: (1) 19 ≤ age < 56, (2) 56 ≤ age < 64, (3) 64 ≤ age < 71, and (4) 71 ≤ age < 89...
September 22, 2016: Digestive Diseases and Sciences
W D Comper, L M Russo, J Vuchkova
In order to understand the mechanism of albuminuria we have explored how other plasma proteins are processed by the kidney as compared to inert molecules like Ficolls. When fractional clearances are plotted versus protein radius there is a remarkable parallelism between protein (molecular weight range 30-150kDa) clearance in healthy controls, in Dent's disease, in nephrotic states and the clearance of Ficolls. Although there are significant differences in the levels of fractional clearances in these states...
September 16, 2016: Journal of Theoretical Biology
Andrea R Zammit, Ali Ezzati, Molly E Zimmerman, Richard B Lipton, Michael L Lipton, Mindy J Katz
INTRODUCTION: Selective hippocampal (HC) subfield atrophy has been reported in older adults with mild cognitive impairment and Alzheimer's disease. The goal of this study was to investigate the associations between the volume of hippocampal subfields and visual and verbal episodic memory in cognitively normal older adults. METHODS: This study was conducted on a subset of 133 participants from the Einstein Aging Study (EAS), a community-based study of non-demented older adults systematically recruited from the Bronx, N...
September 16, 2016: Behavioural Brain Research
Amanda Tabib, Sailaja Vishwanathan, Andrei Seleznev, Peter C McKeown, Tim Downing, Craig Dent, Eduardo Sanchez-Bermejo, Luana Colling, Charles Spillane, Sureshkumar Balasubramanian
Triplet repeat expansions underlie several human genetic diseases such as Huntington's disease and Friedreich's ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 triplet expansion is an example of cryptic genetic variation as its phenotypic effects are seen only under genetic or environmental perturbation, with high temperatures resulting in a growth defect...
2016: Frontiers in Plant Science
Mike Saji, Gorav Ailawadi, Dale E Fowler, Damien J LaPar, John M Dent, Michael Ragosta, D Scott Lim
We describe a patient at high surgical risk who was successfully treated with a MitraClip (Abbott Vascular, Menlo Park, CA) without transmitral gradient. She received corticosteroid therapy for systemic lupus erythematosus, and progressive mitral stenosis developed late after MitraClip implantation. It gradually increased and reached 23 mm Hg at 28 months after the procedure; during the same period, her dose of prednisone had to be increased owing to lupus flare. Systemic inflammatory disease has the potential to result in mitral valve inflammation and fibrosis, ultimately causing thickening of the tissue bridge and worsening of the mitral valve obstruction...
August 2016: Annals of Thoracic Surgery
Thomas B Duguet, Claude L Charvet, Sean G Forrester, Claudia M Wever, Joseph A Dent, Cedric Neveu, Robin N Beech
Helminth parasites rely on fast-synaptic transmission in their neuromusculature to experience the outside world and respond to it. Acetylcholine plays a pivotal role in this and its receptors are targeted by a wide variety of both natural and synthetic compounds used in human health and for the control of parasitic disease. The model, Caenorhabditis elegans is characterized by a large number of acetylcholine receptor subunit genes, a feature shared across the nematodes. This dynamic family is characterized by both gene duplication and loss between species...
July 2016: PLoS Neglected Tropical Diseases
Michael Vieth, Luca Mastracci, Nimish Vakil, John Dent, Börje Wernersson, Irina Baldycheva, Jenny Wissmar, Magnus Ruth, Roberto Fiocca
BACKGROUND & AIMS: Histologic criteria have been refined for the diagnosis of gastroesophageal reflux disease (GERD). We aimed to evaluate these criteria for the assessment of GERD and to measure interassessor agreement. METHODS: We performed a post hoc analysis of data from the Diamond study (NCT 00291746), conducted in Europe and Canada on adults with frequent upper gastrointestinal symptoms who had not taken a proton pump inhibitor in the previous 2 months. GERD was diagnosed based on the presence of 1 or more of the following: reflux esophagitis, pathologic esophageal acid exposure, and/or positive symptom-acid association probability...
June 29, 2016: Clinical Gastroenterology and Hepatology
Puneet Goenka, Aditi Sarawgi, Kirti Asopa, Parvind Gumber, Samir Dutta
Cysticercosis is a condition in which a human acts as the intermediate host of the pork tapeworm Taenia solium. Although cysticercosis is a common disease in some regions of the world and can occur in any body site, oral lesions are rare. In this report, we document the case of oral cysticercosis in a 10-year-old boy who sought treatment for an asymptomatic nodule on the dorsal surface of the tongue. A detailed history, thorough clinical examination, morphological appearance and the histopathologic findings of the excised cyst formed the basis for the diagnosis of the lesion...
April 2016: International Journal of Clinical Pediatric Dentistry
Prasad Jathar, Amey M Panse, Madhura Jathar, Pritesh N Gawali
Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behavior, which results in partial or total destruction of oral and perioral tissues and/ or fingers. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Prevention of self-mutilation raises significant difficulties. A case of a 10-month-old boy with aggressive behavior and severe lower lip injuries is presented. How to cite this article: Jathar P, Panse AM, Jathar M, Gawali PN...
April 2016: International Journal of Clinical Pediatric Dentistry
Shankargouda Patil, Roopa S Rao, Barnali Majumdar, Mohammed Jafer, Mahesh Maralingannavar, Anil Sukumaran
Oral lesions in neonates represent a wide range of diseases often creating apprehension and anxiety among parents. Early examination and prompt diagnosis can aid in prudent management and serve as baseline against the future course of the disease. The present review aims to enlist and describe the diagnostic features of commonly encountered oral lesions in neonates. How to cite this article: Patil S, Rao RS, Majumdar B, Jafer M, Maralingannavar M, Sukumaran A. Oral Lesions in Neonates. Int J Clin Pediatr Dent 2016;9(2):131-138...
April 2016: International Journal of Clinical Pediatric Dentistry
Sean A Virani, Susan Dent, Christine Brezden-Masley, Brian Clarke, Margot K Davis, Davinder S Jassal, Christopher Johnson, Julie Lemieux, Ian Paterson, Igal A Sebag, Christine Simmons, Jeffrey Sulpher, Kishore Thain, Paaldinesh Thavendiranathan, Jason R Wentzell, Nola Wurtele, Marc André Côté, Nowell M Fine, Haissam Haddad, Bradley D Hayley, Sean Hopkins, Anil A Joy, Daniel Rayson, Ellamae Stadnick, Lynn Straatman
Modern treatment strategies have led to improvements in cancer survival, however, these gains might be offset by the potential negative effect of cancer therapy on cardiovascular health. Cardiotoxicity is now recognized as a leading cause of long-term morbidity and mortality among cancer survivors. This guideline, authored by a pan-Canadian expert group of health care providers and commissioned by the Canadian Cardiovascular Society, is intended to guide the care of cancer patients with established cardiovascular disease or those at risk of experiencing toxicities related to cancer treatment...
July 2016: Canadian Journal of Cardiology
Anne Blanchard, Emmanuel Curis, Tiphaine Guyon-Roger, Diana Kahila, Cyrielle Treard, Véronique Baudouin, Etienne Bérard, Gérard Champion, Pierre Cochat, Julie Dubourg, Renaud de la Faille, Olivier Devuyst, Georges Deschenes, Michel Fischbach, Jérôme Harambat, Pascal Houillier, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Chantal Loirat, Elodie Merieau, Patrick Niaudet, François Nobili, Robert Novo, Rémi Salomon, Tim Ulinski, Xavier Jeunemaître, Rosa Vargas-Poussou
Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or whether there is any phenotype-genotype relationship. To answer this we retrospectively analyzed data from 109 male patients with CLCN5 mutations (Dent-1) and 9 patients with mutation of the OCRL gene (Dent-2)...
August 2016: Kidney International
Birthe Kann, Christian Spengler, Karine Coradini, Lucas A Rigo, Martin L Bennink, Karin Jacobs, Herman L Offerhaus, Ruy C R Beck, Maike Windbergs
Increased molecular understanding of multifactorial diseases paves the way for novel therapeutic approaches requiring sophisticated carriers for intracellular delivery of actives. We designed and characterized self-assembling lipid-core nanocapsules for coencapsulation of two poorly soluble natural polyphenols curcumin and resveratrol. The polyphenols were identified as high-potential therapeutic candidates intervening in the intracellular inflammation cascade of chondrocytes during the progress of osteoarthritis...
July 19, 2016: Analytical Chemistry
Kaori Kubo, Tomomi Aizawa, Shojiro Watanabe, Koji Tsugawa, Kazushi Tsuruga, Etsuro Ito, Kensuke Joh, Hiroshi Tanaka
Focal glomerulosclerosis (FGS) is a histologic entity that causes significant proteinuria in children. Although its etiology varies, recent reports indicated that some young male patients with FGS had underlying Dent disease. We describe the case of a 14-year-old Japanese boy who presented with persistent non-nephrotic range proteinuria, hematuria, and renal insufficiency. The patient was initially diagnosed as having FGS associated with scattered tubulointerstitial fibrosis. Although he had neither nephrocalcinosis nor family history of renal disease including urolithiasis, increased excretion of urinary β2 microglobulin was noted...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
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