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https://www.readbyqxmd.com/read/28983876/novel-missense-lcat-gene-mutation-associated-with-an-atypical-phenotype-of-familial-lcat-deficiency-in-two-portuguese-brothers
#1
I Castro-Ferreira, Rute Carmo, Sérgio Estrela Silva, Otília Corrêa, Susana Fernandes, Susana Sampaio, Rodrigues-Pereira Pedro, Augusta Praça, João Paulo Oliveira
Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare recessive disorder of cholesterol metabolism, caused by loss-of-function mutations in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels.The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been reported in a few families worldwide.We describe an intermediate phenotype of LCAT deficiency, with CKD preceding the development of corneal clouding, in two Portuguese brothers apparently homozygous for a novel missense LCAT gene mutation...
October 6, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28975090/chronic-dietary-oxalate-nephropathy-after-intensive-dietary-weight-loss-regimen
#2
Gebran Khneizer, Ahmad Al-Taee, Meher S Mallick, Bahar Bastani
BACKGROUND: Hyperoxaluria has been associated with nephrolithiasis as well as acute and chronic kidney disease. We present a case of end stage renal failure caused by excessive dietary oxalate intake in a dietary weight loss regimen. CASE PRESENTATION: A 51-year-old Caucasian male with the past medical history of type 2 diabetes mellitus, gout, hypertension and morbid obesity was referred to the primary care clinic after being found pale and easily fatigued. The patient had lost 36 kg over a 7-month period by implementing exercise and intense dietary measures that included 6 meals of spinach, kale, berries, and nuts...
July 2017: Journal of Nephropathology
https://www.readbyqxmd.com/read/28879528/effects-of-chronic-kidney-disease-on-myocardial-washout-rate-of-thallium-201-in-patients-with-normal-myocardial-perfusion-on-single-photon-emission-computed-tomography
#3
Satoshi Kurisu, Yoji Sumimoto, Hiroki Ikenaga, Ken Ishibashi, Yukihiro Fukuda, Yasuki Kihara
BACKGROUND: Myocardial perfusion single photon emission computed tomography (SPECT) is often performed even in patients with chronic kidney disease (CKD). We assessed the effects of CKD on myocardial washout rate (WR) of thallium (Tl)-201 in patients with normal myocardial perfusion on SPECT. METHODS: Two hundred and fifty-six patients with normal myocardial perfusion were enrolled in this study. CKD was defined as estimated glomerular filtration rate (eGFR) <60 ml/min/1...
September 6, 2017: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/28839244/retinal-vascular-imaging-markers-and-incident-chronic-kidney-disease-a-prospective-cohort-study
#4
Wanfen Yip, Peng Guan Ong, Boon Wee Teo, Carol Yim-Lui Cheung, E Shyong Tai, Ching-Yu Cheng, Ecosse Lamoureux, Tien Yin Wong, Charumathi Sabanayagam
Retinal microvascular changes indicating microvascular dysfunction have been shown to be associated with chronic kidney disease (CKD) in cross-sectional studies, but findings were mixed in prospective studies. We aimed to evaluate the relationship between retinal microvascular parameters and incident CKD in an Asian population. We examined 1256 Malay adults aged 40-80 years from the Singapore Malay Eye Study, who attended both the baseline (2004-07) and the follow-up (2011-13) examinations and were free of prevalent CKD...
August 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28837736/prevalence-and-associations-of-retinal-emboli-with-ethnicity-stroke-and-renal-disease-in-a-multiethnic-asian-population-the-singapore-epidemiology-of-eye-disease-study
#5
Ning Cheung, Kelvin Teo, Wanting Zhao, Jie Jin Wang, Kumari Neelam, Nicholas Y Q Tan, Paul Mitchell, Ching-Yu Cheng, Tien Yin Wong
Importance: To our knowledge, population-based data on retinal emboli are limited in Asia. Besides its associations with traditional cardiovascular risk factors and stroke, associations between retinal emboli and renal disease and function remain unclear. Objective: To examine the prevalence of and risk factors for retinal emboli in a large, contemporary, multiethnic Asian population. Design, Setting, and Participants: This population-based cross-sectional study was conducted from 2004 to 2011 and included a total of 10 033 Chinese, Malay, and Indian persons aged 40 to 80 years residing in the general communities of Singapore...
October 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28819567/systemic-associations-with-residual-subretinal-fluid-after-ranibizumab-in-diabetic-macular-edema
#6
Meng-Ju Tsai, Yi-Ting Hsieh, Elizabeth P Shen, Yi-Jie Peng
PURPOSE: To investigate the impact of systemic diseases on the occurrence of subretinal fluid (SRF) in diabetic macular edema (DME) and prognostic factors for residual SRF following three consecutive monthly intravitreal ranibizumab. METHODS: Ninety-seven eyes from 68 patients with DME who completed 3 consecutive monthly injections of ranibizumab were enrolled. Systemic parameters mainly included chronic kidney disease (CKD), hypertension, HbA1c, and insulin dependence...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28754014/through-the-patients-eyes-the-experience-of-end-stage-renal-disease-patients-concerning-the-provided-nursing-care
#7
Areti Stavropoulou, Maria G Grammatikopoulou, Michail Rovithis, Konstantina Kyriakidi, Andriani Pylarinou, Anastasia G Markaki
Chronic kidney disease is a condition that affects both the physical and mental abilities of patients. Nursing care is of pivotal importance, in particular when end-stage renal disease (ESRD) patients are concerned, since the quality of the provided care may severely influence the patient's quality of life. This is why it is important to explore patient experiences concerning the rendered care. However, limited up-to-date studies have addressed this issue. The aim of the present study was to stress the experiences of ESRD patients concerning the provided nursing care in the hemodialysis unit at the University Hospital in Heraklion, Crete...
July 21, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28751957/vitamin-d-levels-in-subjects-with-or-without-chronic-kidney-disease-among-veterans-with-diabetes-in-north-east-united-states
#8
Subhashini Yaturu, Barbara Youngberg, Sonya Zdunek
AIM: To evaluate the prevalence of vitamin D deficiency and its relation to diabetes and kidney disease in Veterans residing in the North East United States (VISN 2). METHODS: In this retrospective study, we used data from the computerized patient record system at Stratton Veterans Administration Medical Center at Albany, NY (VHA) for those patients who had 25-hydroxyvitamin D levels and 1,25 (OH) vitamin D levels measured between 2007 and 2010. We collected demographic information including age, sex, body mass index and race; clinical data including diabetes, hypertension and CAD; and laboratory data including calcium, creatinine and parathyroid hormone (PTH) (intact)...
July 15, 2017: World Journal of Diabetes
https://www.readbyqxmd.com/read/28676281/chronic-kidney-disease-and-eye-diseases-the-beijing-eye-study
#9
Jost B Jonas, Ya Xing Wang, Wen Bin Wei, Jie Xu, Qi Sheng You, Liang Xu
No abstract text is available yet for this article.
July 1, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28495961/an-evolutionarily-conserved-role-of-presenilin-in-neuronal-protection-in-the-aging-drosophila-brain
#10
Jongkyun Kang, Sarah Shin, Norbert Perrimon, Jie Shen
Mutations in the Presenilin genes are the major genetic cause of Alzheimer's disease. Presenilin and Nicastrin are essential components of γ-secretase, a multi-subunit protease that cleaves Type I transmembrane proteins. Genetic studies in mice previously demonstrated that conditional inactivation of Presenilin or Nicastrin in excitatory neurons of the postnatal forebrain results in memory deficits, synaptic impairment, and age-dependent neurodegeneration. The roles of Drosophila Presenilin (Psn) and Nicastrin (Nct) in the adult fly brain, however, are unknown...
July 2017: Genetics
https://www.readbyqxmd.com/read/28472538/singapore-indian-eye-study-2-methodology-and-impact-of-migration-on-systemic-and-eye-outcomes
#11
Charumathi Sabanayagam, Wanfen Yip, Preeti Gupta, Riswana Bb Mohd Abdul, Ecosse Lamoureux, Neelam Kumari, Gemmy Cm Cheung, Carol Y Cheung, Jie Jin Wang, Ching-Yu Cheng, Tien Yin Wong
IMPORTANCE: Asian Indians are the fastest growing migration groups in the world. Studies evaluating the impact of migration on disease outcomes in this population are rare. BACKGROUND: We describe the methodology of the Singapore Indian Eye Study-2 (SINDI-2) aimed to evaluate the impact of migration status on diabetic retinopathy and other major age-related eye diseases in Asian Indians living in an urban environment. DESIGN: Population-based cohort study...
May 4, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28453510/is-aspirin-associated-with-diabetic-retinopathy-the-singapore-epidemiology-of-eye-disease-seed-study
#12
Yuan Shi, Yih-Chung Tham, Ning Cheung, Jacqueline Chua, Gavin Tan, Paul Mitchell, Jie Jin Wang, Yin Bun Cheung, Ching-Yu Cheng, Tien Yin Wong
BACKGROUND/AIMS: To determine the association between aspirin use and diabetic retinopathy (DR) among persons with diabetes, in a population-based, cross-sectional study. METHODS: Subjects with diabetes aged >40 years from the Singapore Epidemiology of Eye Diseases Study were enrolled in this study. Retinal photographs were graded for DR according to the modified Airlie House classification system. Vision threatening diabetic retinopathy (VTDR) was defined as the presence of severe non-proliferative DR, or proliferative DR, or clinically significant macular oedema...
2017: PloS One
https://www.readbyqxmd.com/read/28432745/safety-of-sitagliptin-in-patients-with-type-2-diabetes-and-chronic-kidney-disease-outcomes-from-tecos
#13
Samuel S Engel, Shailaja Suryawanshi, Susanna R Stevens, Robert G Josse, Jan H Cornel, Neli Jakuboniene, Axel Riefflin, Tsvetalina Tankova, Julio Wainstein, Eric D Peterson, Rury R Holman
AIMS: To characterize the incidence of diabetes-associated complications and assess the safety of sitagliptin in participants with chronic kidney disease (CKD) in the Trial Evaluating Cardiovascular Outcomes with Sitagliptin (TECOS). MATERIALS AND METHODS: For participants with baseline eGFR measurements (n = 14 528), baseline characteristics and safety outcomes were compared for the CKD cohort (eGFR < 60 mL/min per 1.73 m(2) ) vs those without CKD...
April 22, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28402694/serum-phosphate-and-retinal-microvascular-changes-the-multi-ethnic-study-of-atherosclerosis-and-the-beaver-dam-eye-study
#14
Rupal Mehta, Alexander Hodakowski, Xuan Cai, Kris E Lee, Bryan R Kestenbaum, Ian H de Boer, Amani Fawzi, Tien Yin Wong, Joachim Ix, Barbara Klein, Ronald Klein, Tamara Isakova
PURPOSE: Higher levels of serum phosphate are strongly linked to increased risk of cardiovascular disease and therapies aimed to lower serum phosphate are employed in the management of patients with chronic kidney disease (CKD). Data are limited, however, on serum phosphate as a risk factor for microvascular disease in community-based populations. It is important to determine the impact of novel risk factors, such as phosphate, on the microvasculature. METHODS: We conducted a prospective study of 3919 individuals in the Multi-Ethnic Study of Atherosclerosis (MESA) and 3544 individuals in the Beaver Dam Eye Study (BDES) to test the associations of serum phosphate with retinopathy and retinal vessel caliber, and change in retinopathy severity and change in retinal vessel caliber...
April 12, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28360983/association-between-serum-25-hydroxyvitamin-d-levels-and-dry-eye-in-korean-adults-a-study-based-on-korean-national-health-and-nutrition-examination-survey-2010-2011
#15
Min Ji Kim, Hye Rim Hwang, Yun-Jin Kim, Sang-Yeoup Lee, Jeong-Gyu Lee, Dong-Wook Jeong, Yun Hee Kim
BACKGROUND: Dry eye is a common disease. Many patients continue to experience residual symptoms despite optimal treatment. Thus, new treatment options are required. The purpose of this study was to evaluate the association between serum 25-hydroxyvitamin D [25(OH)D] levels and dry eye. METHODS: This study was performed using data from the fifth Korean National Health and Nutrition Examination Survey, which is a cross-sectional study of the Korean population that was conducted from 2010 to 2011...
March 2017: Korean Journal of Family Medicine
https://www.readbyqxmd.com/read/28245741/isfm-consensus-guidelines-on-the-diagnosis-and-management-of-hypertension-in-cats
#16
Samantha S Taylor, Andrew H Sparkes, Katherine Briscoe, Jenny Carter, Salva Cervantes Sala, Rosanne E Jepson, Brice S Reynolds, Brian A Scansen
Practical relevance: Feline hypertension is a common disease in older cats that is frequently diagnosed in association with other diseases such as chronic kidney disease and hyperthyroidism (so-called secondary hypertension), although some cases of apparent primary hypertension are also reported. The clinical consequences of hypertension can be severe, related to 'target organ damage' (eye, heart and vasculature, brain and kidneys), and early diagnosis followed by appropriate therapeutic management should help reduce the morbidity associated with this condition...
March 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/27942587/chorioretinal-thinning-in-chronic-kidney-disease-links-to-inflammation-and-endothelial-dysfunction
#17
Craig Balmforth, Job J M H van Bragt, Titia Ruijs, James R Cameron, Robert Kimmitt, Rebecca Moorhouse, Alicja Czopek, May Khei Hu, Peter J Gallacher, James W Dear, Shyamanga Borooah, Iain M MacIntyre, Tom M C Pearson, Laura Willox, Dinesh Talwar, Muriel Tafflet, Christophe Roubeix, Florian Sennlaub, Siddharthan Chandran, Baljean Dhillon, David J Webb, Neeraj Dhaun
BACKGROUND. Chronic kidney disease (CKD) is strongly associated with cardiovascular disease and there is an established association between vasculopathy affecting the kidney and eye. Optical coherence tomography (OCT) is a novel, rapid method for high-definition imaging of the retina and choroid. Its use in patients at high cardiovascular disease risk remains unexplored. METHODS. We used the new SPECTRALIS OCT machine to examine retinal and retinal nerve fiber layer (RNFL) thickness, macular volume, and choroidal thickness in a prospective cross-sectional study in 150 subjects: 50 patients with hypertension (defined as a documented clinic BP greater than or equal to 140/90 mmHg (prior to starting any treatment) with no underlying cause identified); 50 with CKD (estimated glomerular filtration rate (eGFR) 8-125 ml/min/1...
December 8, 2016: JCI Insight
https://www.readbyqxmd.com/read/27830398/relationships-between-vitreous-levels-of-soluble-receptor-for-advanced-glycation-end-products-srage-and-renal-function-in-patients-with-diabetic-retinopathy
#18
Makiko Katagiri, Jun Shoji, Satoshi Kato, Shigehiko Kitano, Yasuko Uchigata
PURPOSE: We investigated the relationship between vitreous levels of soluble receptor for advanced glycation end products (sRAGE) and vascular endothelial growth factor (VEGF) and renal function, and correlations between vitreous sRAGE levels and proliferative diabetic retinopathy (PDR) activity. METHODS: We examined 33 eyes from 33 patients with diabetes mellitus who underwent a vitrectomy (eight patients in the non-PDR [NPDR] group and 25 in the PDR group). Serum creatinine levels and estimated glomerular filtration rate (eGFR) were measured and classified according to the chronic kidney disease (CKD)-staging method...
November 9, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27621866/chronic-kidney-disease-and-the-severity-of-coronary-artery-disease-and-retinal-microvasculature-changes-a-cross-sectional-study
#19
Kevin Phan, Cheryl Au, Paul Mitchell, Gerald Liew, Adam J H Plant, Sarah B Wang, Joseph Chiha, Aravinda Thiagalingam, George Burlutsky, Bamini Gopinath
BACKGROUND: Prior studies have suggested the association between incidence of coronary artery disease (CAD) with chronic kidney disease (CKD) and poor glomerular filtration function. However to the best of our knowledge, few studies have specifically assessed this relationship based on the severity of CAD as quantified using Extent and Gensini scores. METHODS: Between June 2009 and January 2012, data were collected from 1,680 participants as part of the Australian Heart Eye Study (AHES) cohort...
August 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27600432/mitochondria-and-the-nlrp3-inflammasome-physiological-and-pathological-relevance
#20
REVIEW
Je-Wook Yu, Myung-Shik Lee
The NLRP3 inflammasome is assembled and activated in certain types of myeloid cells upon sensing microbe-derived toxins or host-derived danger signals. Activation of the NLRP3 inflammasome by endogenous ligands has been discovered in various disorders, including metabolic syndrome, type 2 diabetes, atherosclerosis, gout, reperfusion injury of the heart, neurodegeneration, such as Alzheimer's disease, chronic kidney diseases, and macular degeneration of the eyes. Despite the potential significance of the NLRP3 inflammasome in the pathogenesis of several diseases, details on the activation mechanism of the NLRP3 inflammasome by a variety of stimulators have yet to be reported...
November 2016: Archives of Pharmacal Research
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