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Dent's disease

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https://www.readbyqxmd.com/read/28212688/incidence-and-survival-of-end-stage-kidney-disease-due-to-polycystic-kidney-disease-in-australia-and-new-zealand-1963-2014
#1
Mangalee R Fernando, Hannah Dent, Stephen P McDonald, Gopala K Rangan
BACKGROUND: The aim of this study was to determine whether the incidence and survival of patients with end-stage kidney disease (ESKD) due to polycystic kidney disease (PKD) has changed in Australia and New Zealand. METHODS: Data for all PKD patients who developed ESKD and commenced renal replacement therapy (RRT) was assessed using the Australia and New Zealand Dialysis and Transplant Registry from 1963 to 2014. RESULTS: A total 4678 patients with ESKD due to PKD received RRT during the study period...
February 17, 2017: Population Health Metrics
https://www.readbyqxmd.com/read/28203565/tubular-dysfunction-mimicking-dent-s-disease-in-2-infants-born-with-extremely-low-birth-weight
#2
Midori Awazu, Mie Arai, Shoko Ohashi, Hirotaka Takahashi, Takashi Sekine, Kazushige Ikeda
Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent's disease, performed in patient 1, was negative...
January 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28154153/diencephalic-size-is-restricted-by-a-novel-interplay-between-gcn5-acetyltransferase-activity-and-retinoic-acid-signaling
#3
Jonathan J Wilde, Julie A Siegenthaler, Sharon Y R Dent, Lee A Niswander
: Diencephalic defects underlie an array of neurological diseases. Previous studies have suggested that retinoic acid (RA) signaling is involved in diencephalic development at late stages of embryonic development, but its roles and mechanisms of action during early neural development are still unclear. Here we demonstrate that mice lacking enzymatic activity of the acetyltransferase GCN5 (Gcn5(hat/hat)), which were previously characterized with respect to their exencephalic phenotype, exhibit significant diencephalic expansion, decreased diencephalic RA signaling, and increased diencephalic WNT and SHH signaling...
February 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28143656/bone-marrow-transplantation-improves-proximal-tubule-dysfunction-in-a-mouse-model-of-dent-disease
#4
Sarah S Gabriel, Hendrica Belge, Alkaly Gassama, Huguette Debaix, Alessandro Luciani, Thomas Fehr, Olivier Devuyst
Dent disease is a rare X-linked tubulopathy caused by mutations in the endosomal chloride-proton exchanger (ClC-5) resulting in defective receptor-mediated endocytosis and severe proximal tubule dysfunction. Bone marrow transplantation has recently been shown to preserve kidney function in cystinosis, a lysosomal storage disease causing proximal tubule dysfunction. Here we test the effects of bone marrow transplantation in Clcn5(Y/-) mice, a faithful model for Dent disease. Transplantation of wild-type bone marrow in Clcn5(Y/-) mice significantly improved proximal tubule dysfunction, with decreased low-molecular-weight proteinuria, glycosuria, calciuria, and polyuria four months after transplantation, compared to Clcn5(Y/-) mice transplanted with ClC-5 knockout bone marrow...
January 28, 2017: Kidney International
https://www.readbyqxmd.com/read/28127173/crouzon-s-syndrome-a-rare-genetic-disorder
#5
Anupriya Kaushik, Hindpal Bhatia, Naresh Sharma
: Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early, then it may interfere with the growth of the brain...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28127170/dental-caries-status-of-institutionalized-orphan-children-from-jammu-and-kashmir-india
#6
Aasim F Shah, Pradeep Tangade, T L Ravishankar, Amit Tirth, Sumit Pal, Manu Batra
INTRODUCTION: It has been well documented that the absence of family support influences the general and oral health of the children. Factors that lead to the development of disease at a given point in time are likely to have their roots in a complex chain of environmental events that may have begun years before. A number of studies have examined the relationship between dental caries and material deprivation and found a positive association between them. Though orphans contribute to 2% of world's population, literature regarding their oral health status is very scarce...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28124099/evidence-based-goals-in-ldl-c-reduction
#7
REVIEW
Handrean Soran, Ricardo Dent, Paul Durrington
The evidence from trials of statin therapy suggests that benefits in cardiovascular disease (CVD) event reduction are proportional to the magnitude of low-density lipoprotein cholesterol (LDL-C) lowering. The lack of a threshold at which LDL-C lowering is not beneficial, in terms of CVD prevention observed in these trials, is supported by epidemiological and genetic studies reporting the cardio-protective effects of lifelong low exposure to atherogenic cholesterol in a graded fashion. Providing that intensive LDL-C lowering is safe, these observations suggest that many individuals even at current LDL-C treatment targets could benefit...
January 25, 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/28101447/functional-coupling-of-v-atpase-and-clc-5
#8
REVIEW
Nobuhiko Satoh, Masashi Suzuki, Motonobu Nakamura, Atsushi Suzuki, Shoko Horita, George Seki, Kyoji Moriya
Dent's disease is an X-linked renal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria and progressive renal failure. Disease aetiology is associated with mutations in the CLCN5 gene coding for the electrogenic 2Cl(-)/H(+) antiporter chloride channel 5 (CLC-5), which is expressed in the apical endosomes of renal proximal tubules with the vacuolar type H(+)-ATPase (V-ATPase). Initially identified as a member of the CLC family of Cl(-) channels, CLC-5 was presumed to provide Cl(-) shunt into the endosomal lumen to dissipate H(+) accumulation by V-ATPase, thereby facilitating efficient endosomal acidification...
January 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28035040/of-microtubules-and-memory-implications-for-microtubule-dynamics-in-dendrites-and-spines
#9
Erik W Dent
Microtubules (MTs) are cytoskeletal polymers composed of repeating subunits of tubulin that are ubiquitously expressed in eukaryotic cells. They undergo a stochastic process of polymerization and depolymerization from their plus ends termed dynamic instability. MT dynamics is an ongoing process in all cell types and has been the target for the development of several useful anticancer drugs, which compromise rapidly dividing cells. Recent studies also suggest that MT dynamics may be particularly important in neurons, which develop a highly polarized morphology, consisting of a single axon and multiple dendrites that persist throughout adulthood...
January 1, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28018608/digenic-mutations-of-human-ocrl-paralogs-in-dent-s-disease-type-2-associated-with-chiari-i-malformation
#10
Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L DiLuna, Murat Günel, Richard P Lifton, Kristopher T Kahle
OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/28008941/systemic-wound-healing-associated-with-local-sub-cutaneous-mechanical-stimulation
#11
Christine Nardini, Valentina Devescovi, Yuanhua Liu, Xiaoyuan Zhou, Youtao Lu, Jennifer E Dent
Degeneration is a hallmark of autoimmune diseases, whose incidence grows worldwide. Current therapies attempt to control the immune response to limit degeneration, commonly promoting immunodepression. Differently, mechanical stimulation is known to trigger healing (regeneration) and it has recently been proposed locally for its therapeutic potential on severely injured areas. As the early stages of healing consist of altered intra- and inter-cellular fluxes of soluble molecules, we explored the potential of this early signal to spread, over time, beyond the stimulation district and become systemic, to impact on distributed or otherwise unreachable injured areas...
December 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27993816/final-efficacy-and-updated-safety-results-of-the-randomized-phase-iii-beatrice-trial-evaluating-adjuvant-bevacizumab-containing-therapy-in-triple-negative-early-breast-cancer
#12
R Bell, J Brown, M Parmar, M Toi, T Suter, G G Steger, X Pivot, J Mackey, C Jackisch, R Dent, P Hall, N Xu, L Morales, L Provencher, R Hegg, L Vanlemmens, A Kirsch, A Schneeweiss, N Masuda, F Overkamp, D Cameron
PURPOSE: To assess the long-term impact of adding bevacizumab to adjuvant chemotherapy for early triple-negative breast cancer (TNBC). METHODS: Patients eligible for the open-label randomized phase III BEATRICE trial had centrally confirmed triple-negative operable primary invasive breast cancer (pT1a-pT3). Investigators selected anthracycline- and/or taxane-based chemotherapy for each patient. After definitive surgery, patients were randomized 1:1 to receive ≥4 cycles of chemotherapy alone or with 1 year of bevacizumab (5 mg/kg/week equivalent)...
December 19, 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/27918725/prevention-and-monitoring-of-cardiac-dysfunction-in-survivors-of-adult-cancers-american-society-of-clinical-oncology-clinical-practice-guideline
#13
Saro H Armenian, Christina Lacchetti, Ana Barac, Joseph Carver, Louis S Constine, Neelima Denduluri, Susan Dent, Pamela S Douglas, Jean-Bernard Durand, Michael Ewer, Carol Fabian, Melissa Hudson, Mariell Jessup, Lee W Jones, Bonnie Ky, Erica L Mayer, Javid Moslehi, Kevin Oeffinger, Katharine Ray, Kathryn Ruddy, Daniel Lenihan
Purpose Cardiac dysfunction is a serious adverse effect of certain cancer-directed therapies that can interfere with the efficacy of treatment, decrease quality of life, or impact the actual survival of the patient with cancer. The purpose of this effort was to develop recommendations for prevention and monitoring of cardiac dysfunction in survivors of adult-onset cancers. Methods Recommendations were developed by an expert panel with multidisciplinary representation using a systematic review (1996 to 2016) of meta-analyses, randomized clinical trials, observational studies, and clinical experience...
December 5, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27904828/dent-s-disease-complicated-by-nephrotic-syndrome-a-case-report
#14
Guohua He, Hongwen Zhang, Shanshan Cao, Huijie Xiao, Yong Yao
Dent's disease is an X-linked recessive proximal tubular disorder that mostly affects male patients in childhood or early adult life. The condition is caused by mutations in the CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes located on chromosome Xp11.22 and Xq25, respectively. In most male patients, proteinuria is subnephrotic but may reach nephrotic levels. Here, we report the first case of Dent's disease complicated by nephrotic syndrome. Dent's disease should be considered in the differential diagnosis of nephrotic syndrome, and especially in male patients with early onset of nephrotic syndrome...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27902333/plant-produced-anti-dengue-virus-monoclonal-antibodies-exhibit-reduced-antibody-dependent-enhancement-of-infection-activity
#15
Matthew Dent, Jonathan Hurtado, Amber M Paul, Haiyan Sun, Huafang Lai, Ming Yang, Adrian Esqueda, Fengwei Bai, Herta Steinkellner, Qiang Chen
The mAb E60 has the potential to be a desirable therapeutic molecule since it efficiently neutralizes all four serotypes of dengue virus (DENV). However, mammalian-cell-produced E60 exhibits antibody-dependent enhancement of infection (ADE) activity, rendering it inefficacious in vivo, and treated animals more susceptible to developing more severe diseases during secondary infection. In this study, we evaluated a plant-based expression system for the production of therapeutically suitable E60. The mAb was transiently expressed in Nicotiana benthamianaWT and a ∆XFT line, a glycosylation mutant lacking plant-specific N-glycan residues...
December 2016: Journal of General Virology
https://www.readbyqxmd.com/read/27895154/kidney-tubular-ablation-of-ocrl-inpp5b-phenocopies-lowe-syndrome-tubulopathy
#16
Kazunori Inoue, Daniel M Balkin, Lijuan Liu, Ramiro Nandez, Yumei Wu, Xuefei Tian, Tong Wang, Robert Nussbaum, Pietro De Camilli, Shuta Ishibe
Lowe syndrome and Dent disease are two conditions that result from mutations of the inositol 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney proximal tubule function. Genetic ablation of Ocrl in mice failed to recapitulate the human phenotypes, possibly because of the redundant functions of OCRL and its paralog type 2 inositol polyphosphate-5-phosphatase (INPP5B). Germline knockout of both paralogs in mice results in early embryonic lethality. We report that kidney tubule-specific inactivation of Inpp5b on a global Ocrl-knockout mouse background resulted in low molecular weight proteinuria, phosphaturia, and acidemia...
November 28, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27889724/phenotype-of-dent-disease-in-a-cohort-of-indian-children
#17
Swati Bhardwaj, Ranjeet Thergaonkar, Aditi Sinha, Pankaj Hari, Cheong Hi, Arvind Bagga
OBJECTIVE: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years. DESIGN: Case series. SETTING: Pediatric Nephrology Clinic at a referral center in Northern India. METHODS: The medical records of patients with Dent disease diagnosed and followed up at this hospital from June 2005 to April 2015 were reviewed. The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27865578/comparison-of-the-carlsson-dent-and-gerd-q-questionnaires-for-gastroesophageal-reflux-disease-symptom-detection-in-a-general-population
#18
R Contreras-Omaña, O Sánchez-Reyes, E Ángeles-Granados
INTRODUCTION: Gastroesophageal reflux disease (GERD) is an extremely common pathology in the general population and one of the main reasons for consultation in gastroenterology. There are different instruments for detecting its symptoms, but few studies comparing one tool with another have been conducted in Mexico. AIMS: To compare the effectiveness of the Carlsson-Dent questionnaire (CDQ) and the GERD-Q questionnaire (GQQ) in detecting GERD symptoms in a general population...
January 2017: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/27843263/goldenhar-syndrome-a-case-report-with-review
#19
Mridula Goswami, Urvashi Bhushan, Babita Jangra
: Goldenhar syndrome is a rare condition which is characterized by a multitude of anomalies involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Herein, we report a case of Goldenhar syndrome with hemifacial microsomia and microtia along with systemic involvement which was clinically and radio-graphically assessed. Many classical signs of the syndrome were present in the patient along with few rare ones...
July 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27843255/primary-oral-health-care-in-india-vision-or-dream
#20
REVIEW
Kotumachagi S Suresh, Pravin Kumar, Nagarathna Javanaiah, Shruti Shantappa, Pooja Srivastava
: The contemporary approach to dental caries management in children focuses on prevention than treatment. Pediatricians, general dentists and pediatric dentists must be involved in a detailed preventive program, which includes prenatal counselling, treatment of expectant mothers at risk for dental caries, infant oral health care and the establishment of the dental home, so that dental disease can be prevented in infants, starting at a young age. Various health care system and organizations in India must join together to promote oral health care for all the children and specially focused toward children from disadvantaged background and children with special health care needs...
July 2016: International Journal of Clinical Pediatric Dentistry
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