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Dent's disease

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
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
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
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
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
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
Shogo Minamikawa, Kandai Nozu, Yoshimi Nozu, Tomohiko Yamamura, Mariko Taniguchi-Ikeda, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Yuko Shima, Koichi Nakanishi, Masuji Hattori, Kyoko Kanda, Ryojiro Tanaka, Naoya Morisada, China Nagano, Nana Sakakibara, Hiroaki Nagase, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima
The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the androgen receptor gene at the genomic DNA level and does not reflect the ratio of either targeted gene directly or at the mRNA level. Here, we report four females with Dent disease, and we clarified the correlation between XCI and female cases of Dent disease using not only HUMARA assay but also a novel analytical method by RNA sequencing...
February 19, 2018: Journal of Human Genetics
Laxmi S Mehta, Karol E Watson, Ana Barac, Theresa M Beckie, Vera Bittner, Salvador Cruz-Flores, Susan Dent, Lavanya Kondapalli, Bonnie Ky, Tochukwu Okwuosa, Ileana L Piña, Annabelle Santos Volgman
Cardiovascular disease (CVD) remains the leading cause of mortality in women, yet many people perceive breast cancer to be the number one threat to women's health. CVD and breast cancer have several overlapping risk factors, such as obesity and smoking. Additionally, current breast cancer treatments can have a negative impact on cardiovascular health (eg, left ventricular dysfunction, accelerated CVD), and for women with pre-existing CVD, this might influence cancer treatment decisions by both the patient and the provider...
February 20, 2018: Circulation
Pierluigi Marzuillo, Vincenzo Piccolo, Massimo Mascolo, Andrea Apicella, Giuseppe Argenziano, Nicoletta Della Vecchia, Stefano Guarino, Emanuele Miraglia Del Giudice, Angela La Manna
Dent disease 2 (DD2) is a rare X-Linked disorder characterized by proximal tubule dysfunction. It is considered as mild variant of Lowe Syndrome (LS) and both conditions are secondary to OCRL1 gene mutations.1 Mutations in this gene drastically reduce (<10%) inositol polyphosphate 5-phosphatase (OCRL1) activity.1 This article is protected by copyright. All rights reserved.
February 11, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Roman Günthner, Matias Wagner, Tobias Thurm, Sabine Ponsel, Julia Höfele, Bärbel Lange-Sperandio
Patients with co-occurrence of two independent pathologies pose a challenge for clinicians as the phenotype often presents as an unclear syndrome. In these cases, exome sequencing serves as a powerful instrument to determine the underlying genetic causes. Here, we present the case of a 4-year old boy with proteinuria, microhematuria, hypercalciuria, nephrocalcinosis, livedo-like rash, recurrent abdominal pain, anemia and continuously elevated CRP. Single exome sequencing revealed the pathogenic nonsense mutation p...
January 29, 2018: Gene
Lorena Suarez-Artiles, Ana Perdomo-Ramirez, Elena Ramos-Trujillo, Felix Claverie-Martin
Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar proximal tubule dysfunction but only mild, or no additional clinical defects. It is not yet understood why some OCRL mutations cause the phenotype of Lowe syndrome, while others develop the milder phenotype of Dent-2 disease. Our goal was to gain new insights into the consequences of OCRL exonic mutations on pre-mRNA splicing...
January 4, 2018: Genes
S R Bailey, C L Townsend, H Dent, C Mallet, E Tsaliki, E M Riley, M Noursadeghi, T D Lawley, A J Rodger, P Brocklehurst, N Field
BACKGROUND: Few data are available to guide biological sample collection around the time of birth for large-scale birth cohorts. We are designing a large UK birth cohort to investigate the role of infection and the developing immune system in determining future health and disease. We undertook a pilot to develop methodology for the main study, gain practical experience of collecting samples, and understand the acceptability of sample collection to women in late pregnancy. METHODS: Between February-July 2014, we piloted the feasibility and acceptability of collecting maternal stool, baby stool and cord blood samples from participants recruited at prolonged pregnancy and planned pre-labour caesarean section clinics at University College London Hospital...
December 28, 2017: BMC Pregnancy and Childbirth
Emmanuel Marin Valdez-Solis, Claudia Ramírez-Rentería, Aldo Ferreira-Hermosillo, Mario Molina-Ayala, Victoria Mendoza-Zubieta, Víctor Rodríguez-Pérez
Background: Gastroesophageal pathologies are common and multifactorial in patients with type 1 diabetes (T1DM). The evaluation with endoscopy and 24 h pH esophageal monitoring is expensive and not always available in all medical centers, especially in developing countries so more cost-effective algorithms for diagnosis are required. Clinical questionnaires are easy to apply but its utility for gastroesophageal reflux disease screening in patients with long standing T1DM must be analyzed...
September 30, 2017: Colombia Médica: CM
Mariana A Nemezio, Katharina Mh De Oliveira, Priscilla C Romualdo, Alexandra M Queiroz, Francisco Wg Paula-E-Silva, Raquel Ab Silva, Erika C Küchler
Aim: To perform a systematic review and meta-analysis to establish if fever is associated with primary tooth eruption. Materials and methods: Literature searches involved Pubmed, MEDLINE, Web of Science, Scopus and Cochrane. The potentially relevant studies had the full text analyzed. Only studies concerning fever during eruption period of primary tooth in humans were included. Papers in non-English language, and papers that included syndromic patients or patients with any disease were excluded...
July 2017: International Journal of Clinical Pediatric Dentistry
Azhar Malik, Sumit Sabharwal, Aina Kumar, Praveen Singh Samant, Abishek Singh, Vineet Kumar Pandey
Introduction: For the prevention of oral health problems, health education of schoolchildren has a vital role. The oral health status of the children can be improved if health promotion in schools is conducted in a comprehensive and interesting manner. Objective: Effectivity of game-based oral health education over conventional on the oral health-related knowledge and oral hygiene status among 8- to 12-year-old schoolchildren. Materials and methods: A total of 150 children aged 8 to 12 years were divided into two groups...
July 2017: International Journal of Clinical Pediatric Dentistry
W Law, C Johnson, M Rushton, S Dent
INTRODUCTION: Patients with breast cancer (bca) who overexpress her2 (the human epidermal growth factor receptor 2) are at risk for cardiotoxicity when treated with anthracycline-based chemotherapy and her2-targeted agents. The Framingham risk score (frs) is a validated tool that stratifies patients into high-, intermediate-, or low-risk groups and calculates their 10-year risk of developing cardiovascular disease (cvd) based on past medical history, systolic blood pressure, and measurement of serum lipids...
October 2017: Current Oncology
Ya Zhang, Xiaoyan Fang, Hong Xu, Qian Shen
Dent's disease is an X-linked inherited renal disease. Patients with Dent's disease often carry mutations in genes encoding the Cl-/H+ exchanger ClC-5 and/or inositol polyphosphate 5-phosphatase (OCRL1). However, the mutations involved and the biochemical effects of these mutations are not fully understood. To characterize genetic changes in Dent's disease patients, in this study, samples from nine Chinese patients were subjected to genetic analysis. Among the nine patients, six were classified as having Dent-1 disease, one had Dent-2 disease, and two could not be classified...
December 2017: DNA and Cell Biology
H J Liu, L J Shi, F L Hu, H H Yao, Z G Li, Y Jia
OBJECTIVE: To detect the levels of serum C-C chemokine ligand 19 (CCL19) in patients with systemic lupus erythematosus (SLE) and to evaluate the correlation between CCL19 expression and clinical features and laboratory parameters, trying to reveal the possible role of CCL19 in the pathogenesis of systemic lupus erythematosus. METHODS: The levels of serum CCL19 were measured by enzyme linked immunosorbent assay (ELISA) in 90 patients with SLE and 30 healthy controls...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
W Birkhoff, J de Vries, G Dent, A Verma, J L Kerkhoffs, A H F van Meurs, M de Kam, M Moerland, J Burggraaf
OBJECTIVES: To explore the feasibility of a new quantitative method for microvascular function: non-invasive retinal function imaging (RFI). in sickle cell disease (SCD) patients and healthy controls and have it benchmarked against Laser Speckle Contrast Imaging (LSCI) measurements. METHODS: The variability of Microvascular measurements was assessed in 8 SCD patients and 8 healthy matched controls. Measurements were conducted twice on two different study days. RFI was performed for assessment of arterial and venous retinal blood flow...
March 2018: Microvascular Research
Katherine R Dobbs, Paula Embury, John Vulule, Peter S Odada, Bruce A Rosa, Makedonka Mitreva, James W Kazura, Arlene E Dent
BACKGROUND: Inflammation and monocytes are thought to be important to human malaria pathogenesis. However, the relationship of inflammation and various monocyte functions to acute malaria, recovery from acute malaria, and asymptomatic parasitemia in endemic populations is poorly understood. METHODS: We evaluated plasma cytokine levels, monocyte subsets, monocyte functional responses, and monocyte inflammatory transcriptional profiles of 1- to 10-year-old Kenyan children at the time of presentation with acute uncomplicated malaria and at recovery 6 weeks later; these results were compared with analogous data from asymptomatic children and adults in the same community...
September 21, 2017: JCI Insight
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