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Desmond Leddin, David A Lieberman, Frances Tse, Alan N Barkun, Ahmed M Abou-Setta, John K Marshall, N Jewel Samadder, Harminder Singh, Jennifer J Telford, Jill Tinmouth, Anna N Wilkinson, Grigorios I Leontiadis
BACKGROUND AND AIMS: A family history (FH) of colorectal cancer (CRC) increases the risk of developing CRC. These consensus recommendations developed by the Canadian Association of Gastroenterology and endorsed by the American Gastroenterological Association, aim to provide guidance on screening these high-risk individuals. METHODS: Multiple parallel systematic review streams, informed by 10 literature searches, assembled evidence on 5 principal questions around the effect of a FH of CRC or adenomas on the risk of CRC, the age to initiate screening, and the optimal tests and testing intervals...
August 16, 2018: Gastroenterology
Benjamin Fh Ang, Henry Soeharno, Kong Hwee Lee, Shirlena Tk Wong, Denny Tt Lie, Paul Cc Chang
No abstract text is available yet for this article.
July 2018: Annals of the Academy of Medicine, Singapore
Anna E van Beek, Angela Kamp, Simone Kruithof, Ed J Nieuwenhuys, Diana Wouters, Ilse Jongerius, Theo Rispens, Taco W Kuijpers, Kyra A Gelderman
Complement is activated as part of the innate immune defense against invading pathogens. Also, it helps to remove apoptotic debris and immune complexes from the circulation. Impaired complement function due to aberrant plasma levels of complement proteins may be indicative for complement-mediated diseases or can be involved in susceptibility for infections. To determine whether plasma levels are abnormal, reference intervals (RIs) are used from adult healthy donors. Since many complement-mediated diseases have an onset during childhood, it is important to know whether these RIs can be extrapolated to children...
2018: Frontiers in Immunology
Lubna Bashir Munshi, Yumiko Tsushima, Kwan Cheng, Maria Brito
The hypothalamic-pituitary-adrenal (HPA) axis and the hypothalamic-pituitary-gonadal (HPG) axis are very sensitive and can be affected by external factors like stress, starvation, and medication. Medication-induced suppression of these axes can cause adrenal insufficiency (AI) and hypogonadism. Exogenous glucocorticoid use is the most common cause of iatrogenic AI. Our aim is to bring attention to another broadly prescribed medication, megestrol acetate (MA), as the cause of suppression of both these axes. We report a case of symptomatic hypogonadism and asymptomatic AI in a male patient secondary to MA...
2018: Case Reports in Endocrinology
Xinyao Cheng, Yifang Huang, Xueping Qiu, Xiaohuan Cheng, Yalei Jin, Yafei Hu, Bing Yang, Jingbo Zhao, Yuhua Lei, Fang Zheng
Mutations in the low density lipoprotein receptor (LDLR) gene serve a causative role in the pathophysiology of familial hypercholesterolemia (FH), a common autosomal inherited disorder characterized by abnormal lipid metabolism. The aim of the present study was to investigate genetic defects in a Chinese family with FH. Clinical features and family histories were collected, as were the results of various laboratory tests, including determinations of serum lipid concentrations, ultrasonography and angiography results...
August 2018: Experimental and Therapeutic Medicine
J E Cleophat, H Nabi, S Pelletier, K Bouchard, M Dorval
Background: Many tools have been developed for the standardized collection of cancer family history (fh). However, it remains unclear which tools have the potential to help health professionals overcome traditional barriers to collecting such histories. In this review, we describe the characteristics, validation process, and performance of existing tools and appraise the extent to which those tools can support health professionals in identifying and managing at-risk individuals. Methods: Studies were identified through searches of the medline, embase, and Cochrane central databases from October 2015 to September 2016...
August 2018: Current Oncology
Fiona J Kinnear, Rachel Perry, Aidan Searle, Julian P Hamilton-Shield, Fiona E Lithander
BACKGROUND: Heterozygous familial hypercholesterolaemia (FH) is a genetic disorder characterised by elevated levels of low density lipoprotein (LDL) cholesterol from birth, estimated to affect 1 in 250 of the UK population. Left untreated, FH substantially increases an individual's risk of premature coronary heart disease (CHD) and associated mortality. This risk can be minimised with timely diagnosis and successful treatment with medication and lifestyle changes, as advocated in national and international guidelines...
August 16, 2018: Systematic Reviews
Elisabeth Wurtmann, Julia Steinberger, Pat McCarthy Veach, Mindi Khan, Heather Zierhut
Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic...
August 14, 2018: Journal of Genetic Counseling
Rodrigo Toledo, Camilo Jimenez
Inactivating mutations of the succinate dehydrogenase subunit B ( SDHB ) gene and the subsequent stabilization and activation of the hypoxia-inducible factor 2-alpha (HIF2α) unit are recognized hallmarks associated with the development of metastatic pheochromocytomas and paragangliomas (MPPG). Despite this discovery, the development of systemic therapies for patients with MPPG has been very slow. The rarity of the disease, the lack of preclinical animal models, and the impracticable development of large clinical trials has hindered the therapeutic progress for MPPG...
2018: F1000Research
Xu Wang, Long Jiang, Li-Yuan Sun, Yue Wu, Wen-Hui Wen, Xi-Fu Wang, Wei Liu, Yu-Jie Zhou, Lu-Ya Wang
Background: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism which can lead to premature coronary heart disease (pCHD). There are about 3.8 million potential FH patients in China, whereas the clinical and genetic data of FH are limited. Methods: Dutch Lipid Clinic Network (DLCN) criteria was used to diagnose FH in outpatients with hypercholesterolemia. Resequencing chip analysis combined with Sanger sequencing validation were used to identify mutations in the definite FH patients according to DLCN criteria...
June 2018: Journal of Geriatric Cardiology: JGC
Jessy J Alexander, Jeyantt S Sankaran, Kenneth L Seldeen, Ramkumar Thiyagarajan, Alexander Jacob, Richard J Quigg, Bruce R Troen, Stefan Judex
Complement system is an important arm of the immune system that promotes inflammation. Complement Factor H (FH) is a critical regulator of the alternative complement pathway. Its absence causes pathology in different organs resulting in diseases such as age related macular degeneration and dense deposit disease. Recent studies suggest that the complement system plays a role in bone development and homeostasis. To determine the role of FH in bone architecture, we studied the FH knockout (fh-/-) mice. 3D reconstructions of femur from 16 week old fh-/- mice reveal significant changes, such as decreased BV/TV (4...
August 1, 2018: Immunobiology
Caixing Xiong, Krzysztof Kaczmarek, Janusz Zabrocki, Patricia V Pietrantonio, Ronald J Nachman
Insect kinins modulate aspects of diuresis, digestion, development, and sugar taste perception in tarsi and labellar sensilla in mosquitoes. They are, however, subject to rapid biological degradation by endogenous invertebrate peptidases. A series of α-aminoisobutyric (Aib) acid-containing insect kinin analogs incorporating sequences native to the Aedes aegypti mosquito aedeskinins were evaluated on two recombinant kinin invertebrate receptors stably expressed in cell lines, discovering a number of highly potent and biostable insect kinin mimics...
August 11, 2018: General and Comparative Endocrinology
Dominique Barbolosi, Joakim Crona, Raphaël Serre, Karel Pacak, David Taieb
Succinate dehydrogenase subunit B and D (SDHB and SDHD) mutations represent the most frequent cause of hereditary pheochromocytoma and paraganglioma (PPGL). Although truncation of the succinate dehydrogenase complex is thought to be the disease causing mechanism in both disorders, SDHB and SDHD patients exihibit different phenotypes. These phenotypic differences are currently unexplained by molecular genetics. The aim of this study is to compare disease dynamics in these two conditions via a Markov chain model based on 4 clinically-defined steady states...
2018: PloS One
Michel Hermans, Sylvie Ahn, Michel Rousseau
BACKGROUND: To establish the isolated and crossed impacts of familial histories (FH) of early-onset coronary heart disease (EOCHD) and type 2 diabetes mellitus (T2DM) on their diabetic offsprings. METHODS: The cardiometabolic phenotype of 1098 T2DM patients was analysed according to FHs of DM and/or EOCHD, including body composition, fasting insulinemia, insulin sensitivity, β-cell function (BCF), lipids, lipoprotein(a), high-density lipoprotein (HDL) number/functionality, and micro-/macrovascular complications...
August 13, 2018: Journal of Diabetes
Syunsuke Yamamoto, Yohei Kosugi, Hideki Hirabayashi, Toshiya Moriwaki
PURPOSE: This study was designed to investigate the effects of P-glycoprotein (P-gp) expressed in the intestine on the nonlinear pharmacokinetics (PK) of T-3256336, an inhibitor of apoptosis protein inhibitor, and food effects on its bioavailability in rats. METHODS: To investigate the factors that contribute to nonlinear PK of T-3256336 in the intestine and liver, rats double-cannulated in the portal vein and femoral artery (PS rats) were used. Fa Fg (Fa , absorption ratio; Fg , intestinal availability) and hepatic availability (Fh ) were simultaneously evaluated based on the difference between the portal and systemic blood area under the concentration-time curve (AUC)...
August 13, 2018: Pharmaceutical Research
Jaroslaw Jakub Jedrych, Sekhar Duraisamy, Arivarasan Karunamurthy
Aneurysmal fibrous histiocytoma (FH) is an uncommon variant of cutaneous benign fibrous histiocytoma/dermatofibroma1 typically presenting as a solitary, pigmented, up to several centimeters in size nodule on extremities or trunk of middle-aged adults.1,2 Some cases may be clinically concerning for melanoma or vascular neoplasia.1 The local recurrence rate is ~20%, if incompletely excised.1 This article is protected by copyright. All rights reserved.
August 10, 2018: Journal of Cutaneous Pathology
Isabelle Ruel, Diane Brisson, Sumayah Aljenedil, Zuhier Awan, Alexis Baass, Alexandre Bélanger, Jean Bergeron, David Bewick, James M Brophy, Liam R Brunham, Patrick Couture, Robert Dufour, Gordon A Francis, Jiri Frohlich, Claude Gagné, Daniel Gaudet, Jean C Grégoire, Milan Gupta, Robert A Hegele, G B John Mancini, Brian W McCrindle, Jing Pang, Paolo Raggi, Jack V Tu, Gerald F Watts, Jacques Genest
Familial hypercholesterolemia (FH) is an autosomal codominant lipoprotein disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease. Definitions for FH rely on complex algorithms that are on the basis of levels of total or LDL-C, clinical features, family history, and DNA analysis that are often difficult to obtain. We propose a novel simplified definition for FH. Definite FH includes: (1) elevated LDL-C (≥ 8.50 mmol/L); or (2) LDL-C ≥ 5...
May 19, 2018: Canadian Journal of Cardiology
P Barmpalexis, A Karagianni, I Nikolakakis, K Kachrimanis
The aim of the present study was to evaluate the thermodynamic properties of in-situ formation of cocrystal formulations by the melt-mixing method. Specifically, the thermodynamic mixing behaviour of carbamazepine-nicotinamide and ibuprofen-nicotinamide cocrystals prepared with the aid of Soluplus® (SOL) were evaluated using thermodynamic lattice-based solution theories. Thermodynamic miscibility of both cocrystals with SOL was predicted by calculating Gibb's free energy based on the Flory-Huggins (FH) interaction parameter (χ), while the activity coefficient of cocrystals estimated with the aid of solid-liquid equilibrium equation and FH lattice theory, showed good thermodynamic miscibility of the components at elevated temperatures used normally during melt-mixing based processes...
August 6, 2018: European Journal of Pharmaceutics and Biopharmaceutics
Qijing Bu, Shuo Li, Qiannan Wu, Lingling Bi, Dejun Wang, Xiaoxin Zou, Tengfeng Xie
Semiconductor electrodes integrated with cocatalysts are key components of photoelectrochemistry (PEC) based solar-energy conversion. However, efforts to optimize the PEC device have been limited by an inadequate understanding of the interface interactions between semiconductor-cocatalyst (sem|cat) and cocatalyst-electrolyte (cat|ele) interface. In our work, we used ferrihydrite (Fh) modified Ti-Fe2O3 as a model to explore the transfer process of photogenerated charge carriers between Ti-Fe2O3-Fh (Ti-Fe2O3|Fh) interface and Fh-electrolyte (Fh|ele) interface...
August 8, 2018: ChemSusChem
Albert Wiegman
PURPOSE OF REVIEW: To create awareness for the devastating influence of high cholesterol in familial hypercholesterolaemia (FH) on vessel walls. Persons with high LDL-C and a known mutation associated with FH have a 22-fold increase in CVD compared with those with a normal LDL-C and no genetic mutation. If the awareness of the need to diagnose and treat this genetic disorder at an early stage increases, great atherosclerotic impact later in life could be avoided. Every minute a child with heterozygous FH is born somewhere in the world and every day a child with homozygous FH is born...
August 9, 2018: Current Cardiology Reports
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