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https://www.readbyqxmd.com/read/29784573/phactr1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#1
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most frequent autosomal codominant disease worldwide and is characterized by elevated low-density lipoprotein cholesterol and premature coronary artery disease (CAD). Polymorphisms in phosphatase and actin regulator 1 (PHACTR1) have been shown to be associated with cardiovascular risk in large genome-wide association studies studies. OBJECTIVE: The aim of the present study is to evaluate the association between the rs12526453 polymorphism in the PHACTR1 gene and the prevalence of CAD in FH patients...
April 30, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29782058/familial-aggregation-of-major-depressive-disorder-in-an-african-american-community
#2
Eleanor Murphy, James E Gangwisch, Janet T Matsunaga, Ruth Ottman
BACKGROUND: African Americans (AAs) with major depressive disorder (MDD) experience more impairment and poorer treatment outcomes relative to Whites, yet are underrepresented in family studies of MDD. This is the first study to investigate the familial aggregation of major depression among AAs. METHODS: Participants' reports of depression from clinical and family history (FH) interviews were used to examine depression rates among 435 first-degree relatives and half-siblings of 63 depressed cases and 222 relatives of 33 nondepressed controls...
May 21, 2018: Depression and Anxiety
https://www.readbyqxmd.com/read/29780067/cultural-barriers-in-the-treatment-of-dyslipidemia-a-survey-of-japanese-physician-attitudes
#3
Shizuya Yamashita, Daisaku Masuda, Hidenori Arai, Yuji Matsuzawa
AIMS: To gain a more accurate understanding of the current real-world management of dyslipidemia in Japan, an online survey was conducted in a variety of physicians from five medical fields. METHODS: A web-based survey with online questionnaire was designed, and members of an on-line information service for physicians were invited to participate. The survey enrolled 500 physicians, 100 in each of five categories: cardiology; diabetes, metabolism and endocrinology; neurology/neurosurgery/stroke medicine; general internal medicine (hospitals ≥20 beds), and general internal medicine (self-employed practitioners at clinics or small hospitals ≤19 beds)...
May 18, 2018: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/29779130/the-present-and-the-future-of-genetic-testing-in-familial-hypercholesterolemia-opportunities-and-caveats
#4
REVIEW
Amanda J Hooper, John R Burnett, Damon A Bell, Gerald F Watts
PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic...
May 19, 2018: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#5
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29777623/complement-factor-h-as-a-potential-atherogenic-marker-in-chronic-chagas-disease
#6
Kárita Cláudia Freitas Lidani, Thaisa Lucas Sandri, Fabiana Antunes Andrade, Lorena Bavia, Renato Nisihara, Iara J Messias Reason
AIMS: We aimed to investigate the association between plasma levels of complement Factor H (FH) with cardiac involvement, inflammatory and cardiometabolic parameters in patients with chronic Chagas disease (CD). METHODS: FH plasmatic levels were determined in 80 chronic CD patients. Glycemic index, lipidogram (high-density lipoprotein cholesterol HDL-C, low-density lipoprotein cholesterol LDL-C, triglycerides and total cholesterol), and Ultrasensitive C-Reactive Protein (uCRP) values were obtained from medical records...
May 19, 2018: Parasite Immunology
https://www.readbyqxmd.com/read/29774149/the-rome-iv-versus-rome-iii-criteria-for-heartburn-diagnosis-a-comparative-study
#7
Mengyu Zhang, Minhu Chen, Sui Peng, Yinglian Xiao
Background: The phenotypes of heartburn patients are heterogeneous. Objective: The objective of this study was to investigate the proportion of heartburn phenotypes in a Chinese population and to compare the Rome IV and III criteria for heartburn diagnosis. Methods: A retrospective study was performed among heartburn patients referred for upper endoscopy and esophageal function tests in a tertiary hospital. Their symptoms fulfilled Rome IV and III criteria...
April 2018: United European Gastroenterology Journal
https://www.readbyqxmd.com/read/29773885/metabolic-perturbations-of-post-load-hyperglycemia-vs-fasting-hyperglycemia
#8
Jing-Yi Lu, Jia-Hui Peng, Xiao-Jing Ma, Yi-Nan Zhang, Wei Zhu, Xing-Xing He, Ling-Wen Ying, Yu-Qian Bao, Jian Zhou, Wei-Ping Jia
There is evidence that post-load/post-meal hyperglycemia is a stronger risk factor for cardiovascular disease than fasting hyperglycemia. The underlying mechanism remains to be elucidated. The current study aimed to compare the metabolic profiles of post-load hyperglycemia and fasting hyperglycemia. All subjects received an oral glucose tolerance test (OGTT) and were stratified into fasting hyperglycemia (FH) or post-load hyperglycemia (PH). Forty-six (FH, n = 23; PH, n = 23) and 40 patients (FH, n = 20; PH, n = 20) were recruited as the exploratory and the validation set, respectively, and underwent metabolic profiling...
May 17, 2018: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/29773427/microphthalmia-associated-transcription-factor-mitf-promiscuous-staining-patterns-in-fibrohistiocytic-lesions-is-a-potential-pitfall
#9
Sambit K Mohanty, Shivani Sharma, Dinesh Pradhan, Shivani R Kandukuri, Navid Farahani, Catherine Barry, Julie M Wu, David Frishberg, Bonnie Balzer
Microphthalmia-associated transcription factor (MiTF) is used as a marker of melanocytic differentiation. However, MiTF immunoexpression has also been observed in histiocytes, macrophages, smooth muscle cells and fibroblasts, which raise the concern of fibrohistiocytic (FH) lesions being misdiagnosed as melanoma based on MiTF immunoreactivity. MiTF has been known to be positive in FH tumors, but this is the first study evaluating ninety-three fibrohistiocytic neoplasms to understand and delineate the staining pattern of MiTF in these tumors...
May 11, 2018: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29773150/anxiety-depression-and-health-related-quality-of-life-in-heterozygous-familial-hypercholesterolemia-a-systematic-review-and-meta-analysis
#10
Leo E Akioyamen, Jacques Genest, Shubham D Shan, Happy Inibhunu, Anna Chu, Jack V Tu
BACKGROUND: Heterozygous familial hypercholesterolemia (FH) is a common genetic disease predisposing affected individuals to a high risk of cardiovascular disease. Yet, considerable uncertainty exists regarding its impact on psychosocial wellbeing. OBJECTIVES: We performed a systematic review and meta-analysis of the association between FH and symptoms of anxiety and depression, and health-related quality of life (HRQL). METHODS: We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, PsycINFO, and PubMed for peer-reviewed literature published in English between January 1, 1990 and January 1, 2018...
June 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29770124/does-family-history-of-obesity-cardiovascular-and-metabolic-diseases-influence-onset-and-severity-of-childhood-obesity
#11
Domenico Corica, Tommaso Aversa, Mariella Valenzise, Maria Francesca Messina, Angela Alibrandi, Filippo De Luca, Malgorzata Wasniewska
Objectives: The objectives were to evaluate (1) the metabolic profile and cardiometabolic risk in overweight/obese children at first assessment, stratifying patients according to severity of overweight and age; and (2) to investigate the relationship between family history (FH) for obesity and cardiometabolic diseases and severity of childhood obesity. Methods: In this cross-sectional, retrospective, observational study, 260 children (139 female), aged between 2...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29767079/gluconeogenesis-during-starvation-and-refeeding-phase-is-affected-by-previous-dietary-carbohydrates-levels-and-a-glucose-stimuli-during-early-life-in-siberian-sturgeon-acipenser-baerii
#12
Xiaofang Liang, Jia Wang, Guan Gong, Min Xue, Yingchao Dong, Xiufeng Wu, Xin Wang, Chunshan Chen, Xufang Liang, Yuchang Qin
Gluconeogenesis responses was assessed during a short starvation period and subsequent refeeding in Siberian sturgeon ( Acipenser baerii ) previously fed different dietary carbohydrates levels and experienced to a glucose stimuli during early life. The sturgeon larvae were previously fed either a high glucose diet (G) or a low glucose diet (F) from the first feeding to yolk absorption (8 to 12 d post-hatching [dph]). Each group of fish was sub-divided into 2 treatments at 13 dph and was fed either a high-carbohydrate diet (H) or a low carbohydrate diet (L) until 20 wk...
September 2017: Animal nutrition
https://www.readbyqxmd.com/read/29764606/sex-and-family-history-of-cardiovascular-disease-influence-heart-rate-variability-during-stress-among-healthy-adults
#13
Charles F Emery, Catherine M Stoney, Julian F Thayer, DeWayne Williams, Andrew Bodine
OBJECTIVE: Studies of sex differences in heart rate variability (HRV) typically have not accounted for the influence of family history (FH) of cardiovascular disease (CVD). This study evaluated sex differences in HRV response to speech stress among men and women (age range 30-49 years) with and without a documented FH of CVD. METHODS: Participants were 77 adults (mean age = 39.8 ± 6.2 years; range: 30-49 years; 52% female) with positive FH (FH+, n = 32) and negative FH (FH-, n = 45) of CVD, verified with relatives of participants...
July 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29762450/three-dimensional-analysis-of-mandibular-angle-classification-and-aesthetic-evaluation-of-the-lower-face-in-chinese-female-adults
#14
Xiaoyan Mao, Xi Fu, Feng Niu, Ying Chen, Qi Jin, Jia Qiao, Lai Gui
BACKGROUND: Reduction gonioplasty is very popular in East Asia. However, there has been little quantitative criteria for mandibular angle classification or aesthetics. The aim of this study was to investigate the quantitative differences of mandibular angle types and determine the morphologic features of mandibular angle in attractive women. METHODS: We created a database of skull computed tomography and standardized frontal and lateral photographs of 96 Chinese female adults...
May 14, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29759419/circulating-complement-factor-h-related-protein-5-levels-contribute-to-development-and-progression-of-iga-nephropathy
#15
Li Zhu, Wei-Yi Guo, Su-Fang Shi, Li-Jun Liu, Ji-Cheng Lv, Nicholas R Medjeral-Thomas, Hannah J Lomax-Browne, Matthew C Pickering, Hong Zhang
IgA nephropathy (IgAN) is a disease associated with activation of the complement system. But the factors influencing complement activation in IgAN are not fully understood. Complement factor H (FH) is an essential negative regulator of complement C3 activation. Complement factor H-related protein (FHR)-5 shares high sequence similarity with factor H. However, unlike factor H, on binding to activated C3 it enables further activation to proceed. Previously, we reported the contribution of rare variants of the CFHR5 gene to IgAN susceptibility...
May 11, 2018: Kidney International
https://www.readbyqxmd.com/read/29759104/delayed-postprandial-tag-peak-after-intake-of-sfa-compared-with-pufa-in-subjects-with-and-without-familial-hypercholesterolaemia-a-randomised-controlled-trial
#16
Linn K L Øyri, Patrik Hansson, Martin P Bogsrud, Ingunn Narverud, Geir Florholmen, Lena Leder, Marte G Byfuglien, Marit B Veierød, Stine M Ulven, Kirsten B Holven
Postprandial hypertriacylglycerolaemia is associated with an increased risk of developing CVD. How fat quality influences postprandial lipid response is scarcely explored in subjects with familial hypercholesterolaemia (FH). The aim of this study was to investigate the postprandial response of TAG and lipid sub-classes after consumption of high-fat meals with different fat quality in subjects with FH compared with normolipidaemic controls. A randomised controlled double-blind cross-over study with two meals and two groups was performed...
May 2018: British Journal of Nutrition
https://www.readbyqxmd.com/read/29753733/coronary-computed-tomographic-angiography-findings-and-their-therapeutic-implications-in-asymptomatic-patients-with-familial-hypercholesterolemia-lessons-from-the-safeheart-study
#17
Leopoldo Pérez de Isla, Rodrigo Alonso, Ovidio Muñiz-Grijalvo, José Luis Díaz-Díaz, Daniel Zambón, José Pablo Miramontes, Francisco Fuentes, José Juan Gómez de Diego, Aurora González-Estrada, Nelva Mata, Adriana Saltijeral, Manuel Barreiro, Marta Tomás, Raimundo de Andrés, Rosa Argüeso, Maria Pilar Serrano Gotarredona, Silvia Navarro Herrero, Rosario J Perea Palazón, Teresa M de Caralt, Luisa Arrojo Suárez de Centi, Svetlana Zhilina, Simona Espejo Pérez, Teresa Padró, Pedro Mata
BACKGROUND: Familial hypercholesterolemia (FH) confers an increased risk of premature atherosclerotic disease. Coronary computed tomographic angiography (CTA) can assess preclinical coronary atherosclerosis. OBJECTIVES: To describe coronary CTA findings in asymptomatic molecularly defined FH individuals, to identify those factors related to its presence and extension, and to assess the impact of these results in patients' care and estimated risk. METHODS: Four hundred and forty individuals with FH, without clinical cardiovascular disease, were consecutively enrolled and underwent a coronary CTA that was used to analyze coronary atherosclerosis based on coronary calcium score (CCS), sum of stenosis severity, and plaque composition sum (PCS)...
April 17, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29751285/improving-identification-and-management-of-familial-hypercholesterolaemia-in-primary-care-pre-and-post-intervention-study
#18
Stephen Weng, Joe Kai, Jennifer Tranter, Jo Leonardi-Bee, Nadeem Qureshi
BACKGROUND AND AIMS: Familial hypercholesterolaemia (FH) is a major cause of premature heart disease but remains unrecognised in most patients. This study investigated if a systematic primary care-based approach to identify and manage possible FH improves recommended best clinical practice. METHODS: Pre- and post-intervention study in six UK general practices (population 45,033), which invited patients with total cholesterol >7.5 mmol/L to be assessed for possible FH...
April 30, 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29751283/coronary-heart-disease-mortality-in-treated-familial-hypercholesterolaemia-update-of-the-uk-simon-broome-fh-register
#19
S E Humphries, J A Cooper, M Seed, N Capps, P N Durrington, B Jones, I F W McDowell, H Soran, H A W Neil
BACKGROUND AND AIMS: Patients with familial hypercholesterolaemia (FH) have an elevated risk of coronary heart disease (CHD). Here we compare changes in CHD mortality in patients with heterozygous (FH) pre 1992, before lipid-lowering therapy with statins was used routinely, and in the periods 1992-2008 and 2008-2016. METHODS: 1903 Definite (DFH) and 1650 Possible (PFH) patients (51% women) aged 20-79 years, recruited from 21 lipid clinics in the United Kingdom and followed prospectively between 1980 and 2016 for 67,060 person-years...
May 1, 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29751097/investigating-the-effect-of-ascorbate-on-the-fe-ii-catalyzed-transformation-of-the-poorly-crystalline-iron-mineral-ferrihydrite
#20
Wei Xiao, Adele M Jones, Richard N Collins, T David Waite
The inorganic core of the iron storage protein, ferritin, is recognized as being analogous to the poorly crystalline iron mineral, ferrihydrite (Fh). Fh is also abundant in soils where it is central to the redox cycling of particular soil contaminants and trace elements. In geochemical circles, it is recognized that Fh can undergo Fe(II)-catalyzed transformation to form more crystalline iron minerals, vastly altering the reactivity of the iron oxide and, in some cases, the redox poise of the system. Of relevance to both geochemical and biological systems, we investigate here if the naturally occurring reducing agent, ascorbate, can effect such an Fe(II)-catalyzed transformation of Fh at 25 °C and circumneutral pH...
May 8, 2018: Biochimica et Biophysica Acta
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