keyword
MENU ▼
Read by QxMD icon Read
search

Dent's disease

keyword
https://www.readbyqxmd.com/read/28323933/research-resource-transcriptional-dynamics-of-cultured-human-villous-cytotrophoblasts
#1
Joshua F Robinson, Mirhan Kapidzic, Matthew Gormley, Katherine Ona, Terrence Dent, Helia Seifikar, Emily G Hamilton, Susan J Fisher
During human pregnancy, cytotrophoblasts (CTBs) play key roles in uterine invasion, vascular remodeling, and anchoring of the feto-placental unit. Due to the challenges associated with studying human placentation in utero, cultured primary villous CTBs are used as a model of the differentiation pathway that leads to invasion of the uterine wall. In vitro, CTBs emulate in vivo cell behaviors, such as migration, aggregation and substrate penetration. While some of the molecular features related to these cell behaviors have been described, the underlying mechanisms, at a global level, remain undefined at mid-gestation...
March 8, 2017: Endocrinology
https://www.readbyqxmd.com/read/28318045/diagnosis-of-gastro-oesophageal-reflux-disease-is-enhanced-by-adding-oesophageal-histology-and-excluding-epigastric-pain
#2
N Vakil, M Vieth, B Wernersson, J Wissmar, J Dent
BACKGROUND: The diagnosis of gastro-oesophageal reflux disease (GERD) in clinical practice is limited by the sensitivity and specificity of symptoms and diagnostic testing. AIM: To determine if adding histology as a criterion and excluding patients with epigastric pain enhances the diagnosis for GERD. METHODS: Patients with frequent upper gastrointestinal symptoms who had not taken a proton pump inhibitor in the previous 2 months and who had evaluable distal oesophageal biopsies were included (Diamond study: NCT00291746)...
March 20, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28314577/nanotubes-the-fast-track-to-treatment-of-dent-disease
#3
Thomas E Willnow
Studies in mice have suggested bone marrow transplantation as a strategy to correct the endocytic dysfunction of the proximal tubules in renal Fanconi syndrome, yet the mode of action has remained mysterious. Using a mouse model of Dent disease, Gabriel et al. now show that rescue of the resorptive capacity in the diseased kidney involves cell-to-cell contact between engrafted and host cells via nanotubes, cellular projections that enable transfer of wild-type activity into mutant cells of the proximal tubule...
April 2017: Kidney International
https://www.readbyqxmd.com/read/28302290/statin-intolerance-and-risk-of-coronary-heart-events-and-all-cause-mortality-following-myocardial-infarction
#4
Maria-Corina Serban, Lisandro D Colantonio, Angelika D Manthripragada, Keri L Monda, Vera A Bittner, Maciej Banach, Ligong Chen, Lei Huang, Ricardo Dent, Shia T Kent, Paul Muntner, Robert S Rosenson
BACKGROUND: Many patients report adverse reactions to, and may not tolerate, statin therapy. These patients may be at increased risk for coronary heart disease (CHD) events and mortality. OBJECTIVES: This study evaluated the risk for recurrent myocardial infarction (MI), CHD events, and all-cause mortality in Medicare beneficiaries with statin intolerance and in those with high adherence to statin therapy. METHODS: We studied 105,329 Medicare beneficiaries who began a moderate- or high-intensity statin dosage after hospitalization for MI between 2007 and 2013...
March 21, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28256525/magnetic-nanoparticles-a-strategy-to-target-the-choroidal-layer-in-the-posterior-segment-of-the-eye
#5
Martina Giannaccini, Lucia Pedicini, Guglielma De Matienzo, Federica Chiellini, Luciana Dente, Vittoria Raffa
Despite the higher rate of blindness due to population aging, minimally invasive and selective drug delivery to the eye still remains an open challenge, especially in the posterior segment. The retina, the retinal pigment epithelium (RPE) and the choroid are posterior segment cell layers, which may be affected by several diseases. In particular, damages to the choroid are associated with poor prognosis in the most severe pathologies. A drug delivery approach, able to target the choroid, is still missing. Recently, we demonstrated that intravitreally injected magnetic nanoparticles (MNP) are able to rapidly and persistently localise within the RPE in an autonomous manner...
March 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28250051/systemic-autoimmunity-induced-by-the-tlr7-8-agonist-resiquimod-causes-myocarditis-and-dilated-cardiomyopathy-in-a-new-mouse-model-of-autoimmune-heart-disease
#6
Muneer G Hasham, Nicoleta Baxan, Daniel J Stuckey, Jane Branca, Bryant Perkins, Oliver Dent, Ted Duffy, Tolani S Hameed, Sarah E Stella, Mohammed Bellahcene, Michael D Schneider, Sian E Harding, Nadia Rosenthal, Susanne Sattler
Systemic autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) show significant heart involvement and cardiovascular morbidity, which can be due to systemically increased levels of inflammation or direct autoreactivity targeting cardiac tissue. Despite high clinical relevance, cardiac damage secondary to systemic autoimmunity lacks inducible rodent models. Here, we characterise immune-mediated cardiac tissue damage in a new model of SLE induced by topical application of the Toll-like receptor 7/8 (TLR7/8) agonist Resiquimod...
March 1, 2017: Disease Models & Mechanisms
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
#7
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
#8
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
#9
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...
March 8, 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
#10
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
#11
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. The disease is characterized by craniosynostosis, with associated dentofacial anomalies...
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
#12
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
#13
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...
April 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
March 10, 2017: 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
#20
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
keyword
keyword
4539
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"