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Dent's disease

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https://www.readbyqxmd.com/read/28101447/functional-coupling-of-v-atpase-and-clc-5
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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...
November 16, 2016: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/27843263/goldenhar-syndrome-a-case-report-with-review
#12
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
#13
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
https://www.readbyqxmd.com/read/27836059/primary-immune-deficiencies-in-the-adult-a-previously-underrecognized-common-condition
#14
Elli Rosenberg, Peter B Dent, Judah A Denburg
The large majority of classified primary immune deficiency (PID) diseases present in childhood. Yet, most patients with PID are adults, with a large proportion experiencing onset of symptoms beyond their childhood years. Most of these are diagnosed predominantly with antibody defects, but cellular and other disorders are increasingly being identified in older patients as well. Moreover, advances in clinical immunology are allowing pediatric patients, even those with severe disease, to reach adulthood. Because of differences in the physiology and pathophysiology of children and adults, the presentation, diagnosis, and management of a complex chronic disease could differ significantly between these patient populations and therefore require modifications in approach...
November 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27813447/fostering-innovative-product-development-for-neglected-tropical-diseases-through-partnerships
#15
Amy Starr, Katy M Graef, Jennifer Dent
Neglected tropical diseases are a group of infectious diseases that threaten and impact a significant portion of individuals living in low- and middle-income countries. Healthcare product R&D, which has been relatively limited for this group of infectious diseases, is timely and requires significant risk and resource investment by companies. Regardless of these costs, the global community has recognized the impact on human health that developing products for these diseases could have. Incentives, including 'push' and 'pull' funding, and platforms that support sharing of intellectual property through partnerships, such as The World Intellectual Property Organization Re:Search, are driving R&D...
September 2016: Pharmaceutical Patent Analyst
https://www.readbyqxmd.com/read/27790796/functional-characterization-and-rescue-of-a-deep-intronic-mutation-in-ocrl-gene-responsible-for-lowe-syndrome
#16
John Rendu, Rodrick Montjean, Charles Coutton, Mohnish Suri, Gaetan Chicanne, Anne Petiot, Julie Brocard, Didier Grunwald, France Pietri Rouxel, Bernard Payrastre, Joel Lunardi, Olivier Dorseuil, Isabelle Marty, Julien Fauré
Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is in addition defined by a bilateral congenital cataract, intellectual disability, and hypotonia. The pathology evolves in two decades to a severe condition with renal complications and a fatal issue. We describe here a proof of principle for a targeted gene therapy on a mutation of the OCRL gene that is associated with Lowe syndrome...
February 2017: Human Mutation
https://www.readbyqxmd.com/read/27766457/decreased-urinary-excretion-of-the-ectodomain-form-of-megalin-a-megalin-in-children-with-ocrl-gene-mutations
#17
Chikushi Suruda, Shoji Tsuji, Sohsaku Yamanouchi, Takahisa Kimata, Nguyen Thanh Huan, Hiroyuki Kurosawa, Yoshiaki Hirayama, Hiroyasu Tsukaguchi, Akihiko Saito, Kazunari Kaneko
BACKGROUND: The oculocerebrorenal syndrome of Lowe gene (OCRL) is located on chromosome Xq25-26 and encodes an inositol polyphosphate-5-phosphatase (OCRL-1). Mutations in this gene cause Lowe syndrome (LS) or type 2 Dent disease, of which low-molecular-weight (LMW) proteinuria is a characteristic feature. Megalin is considered to play an important role in the development of renal tubular proteinuria. Two forms of megalin are excreted into the urine: full-length megalin (C-megalin) and megalin ectodomain (A-megalin)...
October 20, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27763996/county-level-vulnerability-assessment-for-rapid-dissemination-of-hiv-or-hcv-infections-among-persons-who-inject-drugs-united-states
#18
Michelle M Van Handel, Charles E Rose, Elaine J Hallisey, Jessica L Kolling, Jon E Zibbell, Brian Lewis, Michele K Bohm, Christopher M Jones, Barry E Flanagan, Azfar-E-Alam Siddiqi, Kashif Iqbal, Andrew L Dent, Jonathan H Mermin, Eugene McCray, John W Ward, John T Brooks
OBJECTIVE: A recent HIV outbreak in a rural network of persons who inject drugs (PWID) underscored the intersection of the expanding epidemics of opioid abuse, unsterile injection drug use (IDU), and associated increases in hepatitis C virus (HCV) infections. We sought to identify US communities potentially vulnerable to rapid spread of HIV, if introduced, and new or continuing high rates of HCV infections among PWID. DESIGN: We conducted a multistep analysis to identify indicator variables highly associated with IDU...
November 1, 2016: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/27757584/proteinuria-in-dent-disease-a-review-of-the-literature
#19
Youri van Berkel, Michael Ludwig, Joanna A E van Wijk, Arend Bökenkamp
BACKGROUND: Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2). As a rule, total protein excretion (TPE) is low in tubular proteinuria compared with glomerular disease. Several authors have reported nephrotic-range proteinuria (NP) and glomerulosclerosis in Dent disease. Therefore, we aimed to analyze protein excretion in patients with documented CLCN5 or OCRL mutations in a systematic literature review. DESIGN: PubMed and Embase were searched for cases with documented CLCN5 or OCRL mutations and (semi-)quantitative data on protein excretion...
October 18, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27743499/quantifying-beta-galactosylceramide-kinetics-in-cerebrospinal-fluid-of-healthy-subjects-using-deuterium-labeling
#20
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...
December 2016: Clinical and Translational Science
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