keyword
MENU ▼
Read by QxMD icon Read
search

Dent's disease

keyword
https://www.readbyqxmd.com/read/29791050/a-novel-clcn5-pathogenic-mutation-supports-dent-disease-with-normal-endosomal-acidification
#1
Yohan Bignon, Alexi Alekov, Nadia Frachon, Olivier Lahuna, Carine Jean-Baptiste Doh-Egueli, Georges Deschênes, Rosa Vargas-Poussou, Stéphane Lourdel
Dent disease in an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl- /H+ exchanger ClC-5 have been reported in patients with Dent disease 1. In vivo studies in mice harboring an artificial mutation in the "gating glutamate" of ClC-5 (c.632A > C, p.Glu211Ala) and mathematical modeling suggest that endosomal chloride concentration could be an important parameter in endocytosis, rather than acidification as earlier hypothesized...
May 23, 2018: Human Mutation
https://www.readbyqxmd.com/read/29783585/re-dent-disease
#2
Dean G Assimos
No abstract text is available yet for this article.
June 2018: Journal of Urology
https://www.readbyqxmd.com/read/29780956/bilateral-corneal-denting-after-surgery-under-general-anesthesia-a-case-report
#3
Satsuki Obata, Akiko Miki, Hisanori Imai, Makoto Nakamura
Purpose: To report a case of temporary bilateral corneal denting in a patient who underwent cardiovascular surgery under general anesthesia. Observations: A 71-year-old male with no history of ophthalmological disease experienced bilateral corneal denting immediately after undergoing surgery for aneurysm of the thoracic aorta under general anesthesia. Anesthesia was induced with propofol and maintained with rocuronium bromide and remifentanil hydrochloride. The initial examination revealed significant denting on the surface of both the corneas and ocular hypotension...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29772577/incidental-detection-of-dent-2-disease-in-an-infant-with-febrile-proteinuria
#4
Shpetim Salihu, Katerina Tosheska, Svetlana Cekovska, Velibor Tasic
OBJECTIVE: Febrile proteinuria is functional proteinuria and is seen as a transitory phenomenon during acute febrile illness, mainly viral infections. It is a benign phenomenon and clears promptly with resolution of the infection. CLINICAL PRESENTATION AND INTERVENTION: In this report, we present a patient who was thought to have febrile proteinuria. Persistence of significant proteinuria after resolution of the infection prompted biochemical and genetic work-up which lead to the diagnosis of Dent-2 disease...
May 17, 2018: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/29761341/the-prevalence-of-developmental-defects-of-enamel-a-prospective-cohort-study-of-adolescents-in-western-sweden-a-barn-i-tanadvarden-bita-children-in-dental-care-study
#5
B Jälevik, A Szigyarto-Matei, A Robertson
AIM: To describe the prevalence of different types of developmental defects of the enamel (DDE) in varying age-cohorts and habitations, and to analyse if early trauma to the primary teeth and early subsequent serious health problems were related to DDE in the permanent dentition. Dental fear and anxiety, and aesthetic problems as a consequence of DDE were also investigated. METHODS: DDE was registered over 5 years annually in three age cohorts (796 children). The DDE index (FDI Commision on Oral Health, Research and Epidemiology, Int Dent J 42:411-426, 1992) was used...
May 14, 2018: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/29760697/hookworm-secreted-extracellular-vesicles-interact-with-host-cells-and-prevent-inducible-colitis-in-mice
#6
Ramon M Eichenberger, Stephanie Ryan, Linda Jones, Geraldine Buitrago, Ramona Polster, Marcela Montes de Oca, Jennifer Zuvelek, Paul R Giacomin, Lindsay A Dent, Christian R Engwerda, Matthew A Field, Javier Sotillo, Alex Loukas
Gastrointestinal (GI) parasites, hookworms in particular, have evolved to cause minimal harm to their hosts, allowing them to establish chronic infections. This is mediated by creating an immunoregulatory environment. Indeed, hookworms are such potent suppressors of inflammation that they have been used in clinical trials to treat inflammatory bowel diseases (IBD) and celiac disease. Since the recent description of helminths (worms) secreting extracellular vesicles (EVs), exosome-like EVs from different helminths have been characterized and their salient roles in parasite-host interactions have been highlighted...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29756720/a-novel-mutation-of-dent-s-disease-in-an-11-year-old-male-with-nephrolithiasis-and-nephrocalcinosis
#7
Ozlem Sancakli, Bahar Kulu, Onur Sakallioglu
Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29750180/reporting-of-coronary-artery-calcification-on-chest-ct-studies-in-breast-cancer-patients-at-high-risk-of-cancer-therapy-related-cardiac-events
#8
William J Phillips, Christopher Johnson, Angeline Law, Michele Turek, Alex R Small, Joao R Inacio, Susan Dent, Terrence Ruddy, Rob S Beanlands, Benjamin J W Chow, Gary R Small
Background: The identification of coronary artery calcification (CAC) detected coincidentally on chest CT exams could assist in cardiovascular risk assessment but may not be reported consistently on clinical studies. Cardiovascular risk factor stratification is important to predict short term cardiac events during cancer therapy and long term cardiac event free survival in cancer patients. We sought to determine the prevalence of CAC and clinical reporting rates in a cohort of cancer patients at high risk of cancer therapy related cardiac events...
March 2018: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/29739799/healthcare-utilization-and-statin-re-initiation-among-medicare-beneficiaries-with-a-history-of-myocardial-infarction
#9
John N Booth, Lisandro D Colantonio, Robert S Rosenson, Monika M Safford, Ligong Chen, Meredith L Kilgore, Todd M Brown, Benjamin Taylor, Ricardo Dent, Keri L Monda, Paul Muntner, Emily B Levitan
BACKGROUND: Contact with the healthcare system represents an opportunity for individuals who discontinue statins to re-initiate treatment. To help identify opportunities for healthcare providers to emphasize the risk-lowering benefits accrued through restarting statins, we determined the types of healthcare utilization associated with statin re-initiation among patients with history of a myocardial infarction. METHODS AND RESULTS: Medicare beneficiaries with a statin pharmacy fill claim within 30 days of hospital discharge for a myocardial infarction in 2007 to 2012 (n=158 795) were followed for 182 days postdischarge to identify treatment discontinuation, defined as 60 continuous days without statins (n=24 461)...
May 8, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29678045/approach-towards-an-evidence-oriented-knowledge-and-data-acquisition-for-the-optimization-of-interdisciplinary-care-in-dentistry-and-general-medicine
#10
Max W Seitz, Christian Haux, Petra Knaup, Ingrid Schubert, Stefan Listl
Associations between dental and chronic-systemic diseases were observed frequently in medical research, however the findings of this research have so far found little relevance in everyday clinical treatment. Major problems are the assessment of evidence for correlations between such diseases and how to integrate current medical knowledge into the intersectoral care of dentists and general practitioners. On the example of dental and chronic-systemic diseases, the Dent@Prevent project develops an interdisciplinary decision support system (DSS), which provides the specialists with information relevant for the treatment of such cases...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29622948/-an-unusual-and-fast-disappearing-opportunity-infectious-disease-indigenous-populations-and-new-biomedical-knowledge-in-amazonia-1960-1970
#11
Rosanna Dent, Ricardo Ventura Santos
In the twentieth century, biomedical researchers believed the study of Indigenous Amazonians could inform global histories of human biological diversity. This paper examines the similarities and differences of two approaches to this mid-century biomedical research, comparing the work of virologist and epidemiologist Francis Black with human geneticists James V. Neel and Francisco Salzano. While both groups were interested in Indigenous populations as representatives of the past, their perspectives on epidemics diverged...
September 2017: Perspectives on Science: Historical, Philosophical, Social
https://www.readbyqxmd.com/read/29614570/-clinical-features-and-genetic-variants-of-dent-disease-in-10-children
#12
S L Zhao, F Zhao, Y G Sha, Q X Chen, X Q Cheng, S M Huang
Objective: To summarize the clinical features and genetic analysis results of 10 children with Dent disease. Methods: The clinical data and gene test results of 10 boys aged from 8 months to 12 years with Dent disease diagnosed in Children's Hospital of Nanjing Medical University from January 2014 to July 2017 were analyzed retrospectively. Results: All patients had insidious onset, 5 cases were found to have proteinuria on routine urine examination after hospitalization duo to other diseases, 4 cases were admitted to hospital because increased foams in the urine, and 1 case was found to have proteinuria on health checkup...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29596858/a-novel-histochemical-method-of-simultaneous-detection-by-a-single-or-double-immunofluorescence-and-bielschowsky-s-silver-staining-in-teased-rat-sciatic-nerves
#13
Edith Segura-Anaya, Rommel Flores-Miranda, Alejandro Martínez-Gómez, Myrna A R Dent
BACKGROUND: The Golgi silver method has been widely used in neuroscience for the study of normal and pathological morphology of neurons. The method has been steadily improved and Bielschowsky's silver staining method (BSSM) is widely used in various pathological conditions, like Alzheimer's disease. NEW METHOD: In this work, teased sciatic nerves were silver impregnated using BSSM. We also developed simultaneous staining by silver impregnation and single- or double-immunofluorescence of the same section in teased nerve preparations...
March 27, 2018: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/29582554/genetic-counselors-on-the-frontline-of-precision-health
#14
Michael J Bamshad, Pilar L Magoulas, Karin M Dent
By enabling precise genetic diagnosis and treatment there is great potential for inexpensive, accurate, and widely accessible genomic information to transform health care and improve the general well-being of virtually every person. To maximize this potential, approaches to genetic counseling and the role of genetic counselors will need to adapt to fit changing clinical and commercial needs worldwide. This will require overcoming multiple challenges including an inadequate workforce; development and implementation of alternate models of service delivery; integration of new technologies to improve, extend, and expand services; and support for equitable education and counseling among all populations...
March 26, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29552446/the-ratio-of-urinary-%C3%AE-1-microglobulin-to-microalbumin-can-be-used-as-a-diagnostic-criterion-for-tubuloproteinuria
#15
Hongwen Zhang, Fang Wang, Huijie Xiao, Yong Yao
Low-molecular-weight proteinuria is one of the characteristic clinical manifestations of renal tubular and interstitial diseases. Low-molecular-weight proteinuria is defined as excessive urinary loss of α1-microglobulin, β2-microglobulin, or other low-molecular-weight plasma proteins. The current study examined the ratio of urinary α1-microglobulin to microalbumin in 24 Chinese pediatric patients with renal tubular and interstitial diseases, including 10 patients with Dent disease, 2 patients with Lowe syndrome, 6 patients with acute tubulointerstitial nephritis (ATIN), 4 patients with acute tubulointerstitial nephritis with uveitis syndrome (TINU), and 2 patients with nephronophthisis (NPHP)...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29534445/strengthening-preparedness-for-arbovirus-infections-in-mediterranean-and-black-sea-countries-a-conceptual-framework-to-assess-integrated-surveillance-in-the-context-of-the-one-health-strategy
#16
REVIEW
Maria Grazia Dente, Flavia Riccardo, Gloria Nacca, Alessia Ranghiasci, Camille Escadafal, Lobna Gaayeb, Miguel Angel Jiménez-Clavero, Jean-Claude Manuguerra, Marie Picard, Jovita Fernández-Pinero, Elisa Pérez-Ramírez, Vincent Robert, Kathleen Victoir, Silvia Declich
In the context of One Health, there is presently an effort to integrate surveillance of human, animal, entomological, and environmental sectors. This aims to strengthen the prevention of, and preparedness against, arbovirus infections, also in the light of environmental and climate changes that could increase the risk of transmission. However, criteria to define integrated surveillance, and to compare different systems, still need to be identified and tested. We conducted a scoping review to identify and examine surveillance systems for West Nile virus (WNV), chikungunya virus (CHKV), dengue virus (DENV), and Rift Valley fever virus (RVFV), which involve human, animal, entomological, and environmental sectors...
March 10, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29518834/-a-case-of-dent-2-disease
#17
Y Chen, H Y Deng, W Z Deng
No abstract text is available yet for this article.
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29480621/the-medically-compromised-patient-are-dental-implants-a-feasible-option
#18
A Vissink, Fkl Spijkervet, G M Raghoebar
In healthy subjects, dental implants have evolved to be a common therapy to solve problems related to stability and retention of dentures as well as to replace failing teeth. Although dental implants are applied in medically compromised patients, it is often not well known whether this therapy is also feasible in these patients, whether the risk of implant failure and developing peri-implantitis is increased, and what specific preventive measures, if any, have to be taken when applying dental implants in these patients...
March 2018: Oral Diseases
https://www.readbyqxmd.com/read/29478687/limited-longitudinal-evidence-suggests-that-socioeconomic-position-may-influence-periodontal-diseases-over-the-course-of-life
#19
Luisa N Borrell, Sharon P Joseph
ARTICLE TITLE AND BIBLIOGRAPHIC INFORMATION: Socioeconomic position during life and periodontitis in adulthood: a systematic review. Schuch HS, Peres KG, Singh A, Peres MA, Do LG. Community Dent Oral Epidemiol 2017; 45(3):201-8. SOURCE OF FUNDING: Brazilian Government Agency-CAPES: Coordination for the Improvement of Higher Education Personnel for the PhD Scholarship (HSS-Process 13374-13-1) TYPE OF STUDY/DESIGN: Systematic review.
March 2018: Journal of Evidence-based Dental Practice
https://www.readbyqxmd.com/read/29470710/risk-stratification-genomic-data-and-the-law
#20
REVIEW
Alison Hall, Thomas Finnegan, Susmita Chowdhury, Tom Dent, Mark Kroese, Hilary Burton
Risk prediction models have a key role in stratified disease prevention, and the incorporation of genomic data into these models promises more effective personalisation. Although the clinical utility of incorporating genomic data into risk prediction tools is increasingly compelling, at least for some applications and disease types, the legal and regulatory implications have not been examined and have been overshadowed by discussions about clinical and scientific utility and feasibility. We held a workshop to explore relevant legal and regulatory perspectives from four EU Member States: France, Germany, the Netherlands and the UK...
February 22, 2018: Journal of Community Genetics
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"