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https://www.readbyqxmd.com/read/29351853/cardiac-biomarkers-as-sensitive-tools-to-evaluate-the-impact-of-xenobiotics-on-amphibians-the-effects-of-anionic-surfactant-linear-alkylbenzene-sulfonate-las
#1
Monica Jones-Costa, Lilian Franco-Belussi, Felipe Augusto Pinto Vidal, Nathália Penteado Gongora, Luciano Mendes Castanho, Cleoni Dos Santos Carvalho, Elaine Cristina Mathias Silva-Zacarin, Fabio Camargo Abdalla, Iolanda Cristina Silveira Duarte, Classius De Oliveira, Cristiane Ronchi de Oliveira, Raquel Fernanda Salla
Amphibian populations have been experiencing a drastic decline worldwide. Aquatic contaminants are among the main factors responsible for this decline, especially in the aquatic environment. The linear alkylbenzene sulfonate (LAS) is of particular concern, since it represents 84% of the anionic surfactants' trade. In Brazil, the maximal LAS concentration allowed in fresh waters is 0.5mgL-1, but its potential harmful effects in amphibians remain unknown. Therefore, this study aimed to analyze the effects of a sublethal concentration of LAS (0...
January 16, 2018: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/29348113/genetics-in-endocrinology-the-expanding-genetic-horizon-of-primary-aldosteronism
#2
Silvia Monticone, Fabrizio Buffolo, Martina Tetti, Franco Veglio, Barbara Pasini, Paolo Mulatero
Aldosterone is the main mineralocorticoid hormone in humans and plays a key role in maintaining water and electrolyte homeostasis. Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction by the adrenal glands, affects 6% of the general hypertensive population and can be either sporadic or familial. Aldosterone producing adenoma (APA) and bilateral adrenal hyperplasia (BAH) are the two most frequent subtypes of sporadic PA, and 4 forms of familial hyperaldosteronism (FH-I to FH-IV) have been identified...
January 18, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#3
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29335492/assessing-the-effectiveness-of-nice-criteria-for-stratifying-breast-cancer-risk-in-a-uk-cohort
#4
Lucy A Littlejohn, Jim Gibbs, Lee B Jordan, Zosia H Miedzybrodzka, Christine Bell, David Goudie, Jacqueline Dunlop, Jonathan N Berg
Breast cancer risk is a common indication for referral to clinical genetics services. UK National Institute of Health and Care Excellence (NICE) guidelines use family history (FH) to stratify by 10-year risk of breast cancer from age 40. Patients are stratified into population risk (PR, 10-year risk <3%), moderate (MR, 3-8%) and high risk (HR, >8%). Women at increased risk are offered screening at or prior to age 40. To assess the clinical effectiveness of current risk stratification, FH data were obtained for all unaffected women with a FH of breast cancer aged <50, referred to cancer genetics from 2000-2010...
January 15, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29335241/the-mfhr1-fusion-protein-is-a-novel-synthetic-multitarget-complement-inhibitor-with-therapeutic-potential
#5
Stefan Michelfelder, Friedericke Fischer, Astrid Wäldin, Kim V Hörle, Martin Pohl, Juliana Parsons, Ralf Reski, Eva L Decker, Peter F Zipfel, Christine Skerka, Karsten Häffner
The complement system is essential for host defense, but uncontrolled complement system activation leads to severe, mostly renal pathologies, such as atypical hemolytic uremic syndrome or C3 glomerulopathy. Here, we investigated a novel combinational approach to modulate complement activation by targeting C3 and the terminal pathway simultaneously. The synthetic fusion protein MFHR1 links the regulatory domains of complement factor H (FH) with the C5 convertase/C5b-9 inhibitory fragment of the FH-related protein 1...
January 15, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29334954/association-between-non-cholesterol-sterol-concentrations-and-achilles-tendon-thickness-in-patients-with-genetic-familial-hypercholesterolemia
#6
Lucía Baila-Rueda, Itziar Lamiquiz-Moneo, Estíbaliz Jarauta, Rocío Mateo-Gallego, Sofía Perez-Calahorra, Victoria Marco-Benedí, Ana M Bea, Ana Cenarro, Fernando Civeira
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder that result in abnormally high low-density lipoprotein cholesterol levels, markedly increased risk of coronary heart disease (CHD) and tendon xanthomas (TX). However, the clinical expression is highly variable. TX are present in other metabolic diseases that associate increased sterol concentration. If non-cholesterol sterols are involved in the development of TX in FH has not been analyzed. METHODS: Clinical and biochemical characteristics, non-cholesterol sterols concentrations and Aquilles tendon thickness were determined in subjects with genetic FH with (n = 63) and without (n = 40) TX...
January 15, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29334840/transcallosal-conduction-in-paroxysmal-kinesigenic-dyskinesia
#7
Tayfun Kasikci, Semai Bek, Guray Koc, Mehmet Yucel, Yasar Kutukcu, Zeki Odabasi
OBJECTIVES: Detecting whether a possible disequilibrium between the excitatory and inhibitory interhemispheric interactions in paroxysmal kinesigenic dyskinesia (PKD) exists. METHODS: This study assessed measures of motor threshold, motor evoked potential latency, the cortical silent period, the ipsilateral silent period and the transcallosal conduction time (TCT) in PKD patients. Data were compared between the clinically affected hemisphere (aH) and the fellow hemisphere (fH)...
January 15, 2018: Somatosensory & Motor Research
https://www.readbyqxmd.com/read/29333370/the-efficacy-of-oral-habit-modification-on-headache
#8
Farzaneh Agha-Hosseini, Nafiseh Sheykhbahaei, Iraj Mirzaii-Dizgah, Farzad Fatehi
Objectives: Headache is the most common complaint of patients suffering from temporomandibular joint disorders (TMDs). Thus, temporomandibular joint (TMJ) examinations maybe necessary in patients with headache. Considering the high prevalence of bruxism and TMDs in patients with headache the effects of conservative TMD treatment on headache should be assessed. Materials and Methods: Patients were questioned about headaches in the past three months. Those responding affirmatively to this question were examined for TMD and bruxism...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29332133/fumarate-hydratase-fh-deficiency-in-uterine-leiomyomas-recognition-by-histological-features-versus-blind-immunoscreening
#9
Lisa Siegler, Ramona Erber, Stefanie Burghaus, Tobias Brodkorb, David Wachter, Nafisa Wilkinson, James Bolton, Helen Stringfellow, Florian Haller, Matthias W Beckmann, Arndt Hartmann, Abbas Agaimy
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare autosomal dominant disease caused by germline mutations in the fumarate hydratase (FH) gene. Affected individuals develop cutaneous and uterine leiomyomas and aggressive RCC. To date, only few publications described the frequency and morphology of FH-deficient uterine leiomyomas. We reviewed 22 cases collected over 8 years from routine and consultation files based on distinctive histological features. In addition, we screened 580 consecutive uterine leiomyomas from 484 patients, 23 extra-uterine and 8 uterine leiomyosarcomas, and 6 leiomyomas with bizarre nuclei for FH loss using immunohistochemistry (IHC) on tissue microarrays (TMAs)...
January 13, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29329392/risk-of-pancreatic-cancer-associated-with-family-history-of-cancer-and-other-medical-conditions-by-accounting-for-smoking-among-relatives
#10
E Molina-Montes, P Gomez-Rubio, M Márquez, M Rava, M Löhr, C W Michalski, X Molero, A Farré, J Perea, W Greenhalf, L Ilzarbe, M O'Rorke, A Tardón, T Gress, V M Barberà, T Crnogorac-Jurcevic, E Domínguez-Muñoz, L Muñoz-Bellvís, J Balsells, E Costello, J Huang, M Iglesias, J Kleeff, Bo Kong, J Mora, L Murray, D O'Driscoll, I Poves, A Scarpa, W Ye, M Hidalgo, L Sharp, A Carrato, F X Real, N Malats
Background: Family history (FH) of pancreatic cancer (PC) has been associated with an increased risk of PC, but little is known regarding the role of inherited/environmental factors or that of FH of other comorbidities in PC risk. We aimed to address these issues using multiple methodological approaches. Methods: Case-control study including 1431 PC cases and 1090 controls and a reconstructed-cohort study (N = 16 747) made up of their first-degree relatives (FDR)...
January 10, 2018: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29324814/comprehensive-molecular-profiling-of-advanced-metastatic-olfactory-neuroblastomas
#11
Jasmina Topcagic, Rebecca Feldman, Anatole Ghazalpour, Jeffrey Swensen, Zoran Gatalica, Semir Vranic
Olfactory neuroblastoma (ONB) is a rare, locally aggressive, malignant neoplasm originating in the olfactory epithelium in the nasal vault. The recurrence rate of ONB remains high and there are no specific treatment guidelines for recurrent/metastatic ONBs. This study retrospectively evaluated 23 ONB samples profiled at Caris Life Sciences (Phoenix, Arizona) using DNA sequencing (Sanger/NGS [Illumina], n = 15) and gene fusions (Archer FusionPlex, n = 6), whole genome RNA microarray (HumanHT-12 v4 beadChip, Illumina, n = 4), gene copy number assays (chromogenic and fluorescent in situ hybridization), and immunohistochemistry...
2018: PloS One
https://www.readbyqxmd.com/read/29323716/oxidative-burden-in-familial-hypercholesterolemia
#12
REVIEW
Hamid Mollazadeh, Federico Carbone, Fabrizio Montecucco, Matteo Pirro, Amirhossein Sahebkar
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high serum levels of low-density lipoprotein cholesterol (LDL-c). FH is characterized by accelerated development of atherosclerosis and represents the most frequent hereditary cause of premature coronary heart disease. Mutations of the LDL receptor gene are the genetic signature of FH, resulting in abnormal levels of circulating LDLs. Moreover, FH promotes the generation of reactive oxygen species (ROS) which is another key mechanism involved in atherosclerosis development and progression...
January 11, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29321389/aortic-root-calcification-score-as-an-independent-factor-for-predicting-major-adverse-cardiac-events-in-familial-hypercholesterolemia
#13
Hirofumi Okada, Hayato Tada, Kenshi Hayashi, Hiroki Kawashima, Tadanori Takata, Kenji Sakata, Atsushi Nohara, Hiroshi Mabuchi, Masakazu Yamagishi, Masa-Aki Kawashiri
AIM: The aims of this study were: 1) to determine whether the accumulation of aortic root calcification (ARC) assessed using coronary computed tomography angiography (CCTA) can predict future cardiovascular events, and 2) to estimate the onset and progression of ARC in patients with familial hypercholesterolemia (FH). METHODS: One hundred thirteen consecutive Japanese patients with heterozygous FH (male=54, mean age=52.1±15.6 years, mean LDL-C=299.0±94.6 mg/dL), without known coronary artery disease, who underwent 64-detector row CCTA were retrospectively evaluated...
January 10, 2018: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/29320718/adiposity-and-family-history-of-type-2-diabetes-in-an-admixed-population-of-adolescents-associations-with-insulin-sensitivity-beta-cell-function-and-hepatic-insulin-extraction-in-brams-study
#14
Daniella F Camilo, Ana Carolina J Vasques, Keila Hayashi, Andrea Tura, Cleliani de Cassia da Silva, Mariana P Zambon, Maria Ângela R de G Monteiro Antônio, Bruno Geloneze
AIMS: Insulin resistance and beta-cell dysfunction manifest differently across racial/ethnic groups, and there is a lack of knowledge regarding the pathophysiology of type 2 diabetes mellitus (T2DM) for ethnically admixed adolescents. This study aimed to investigate the influence of adiposity and family history (FH) of T2DM on aspects of insulin sensitivity, beta-cell function, and hepatic insulin extraction in Brazilian adolescents. METHODS: A total of 82 normoglycemic adolescents were assessed...
January 7, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29315779/trophic-transfer-of-cadmium-from-duckweed-lemna-minor-l-to-tilapia-oreochromis-mossambicus
#15
Yan Xue, Willie J G M Peijnenburg, Jin Huang, Dengjun Wang, Yan Jin
The transfer of the toxic heavy metal Cd from duckweed (Lemna minor L.) to the freshwater fish tilapia (Oreochromis mossambicus) was investigated. Concentrations of Cd in different chemical forms in duckweed and in different tissues (gut, edible muscle, and remnants) of tilapia, i.e., ethanol-extractable (FE ), HCl-extractable (FHCl ), and residual fractions (FR ) were quantified, and the bioaccumulation factors (BAF) of Cd in the tilapia body were calculated. Simple linear regression analysis was used to unravel the correlation and accumulation mechanisms of Cd along the short food chain...
January 5, 2018: Environmental Toxicology and Chemistry
https://www.readbyqxmd.com/read/29315685/hydrogen-bonding-in-the-mixed-hf-hcl-dimer-is-it-better-to-give-or-receive
#16
Sarah N Johnson, Gregory S Tschumper
The ClH⋯FH and FH⋯ClH configurations of the mixed HF/HCl dimer (where the donor⋯acceptor notation indicates the directionality of the hydrogen bond) as well as the transition state connecting the two configurations have been optimized using MP2 and CCSD(T) with correlation consistent basis sets as large as aug-cc-pV(5 + d)Z. Harmonic vibrational frequencies confirmed that both configurations correspond to minima and that the transition state has exactly one imaginary frequency. In addition, anharmonic vibrational frequencies computed with second-order vibrational perturbation theory (VPT2) are within 6 cm-1 of the available experimental values and deviate by no more than 4 cm-1 for the complexation induced HF frequency shifts...
January 9, 2018: Journal of Computational Chemistry
https://www.readbyqxmd.com/read/29310990/treatment-goal-attainment-in-children-with-familial-hypercholesterolemia-a-cohort-study-of%C3%A2-302-children-in-norway
#17
Martin P Bogsrud, Gisle Langslet, Cecilie Wium, Dan Johansen, Arne Svilaas, Kirsten B Holven
BACKGROUND: Consensus statements recommend that statin treatment in children with heterozygous familial hypercholesterolemia (FH) should be considered from 8 to 10 years of age. Although these recommendations are well known, less is known about actual treatment and treatment goal attainment in children with FH. OBJECTIVE: The objective of the study was to investigate if children with FH were treated according to current recommendations. METHODS: Retrospective collection of data from medical records of 302 children below 18 years visiting the Lipid Clinic, Oslo University hospital, during 2014 to 2016...
December 6, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29306457/cost-effectiveness-of-pcsk9-inhibition-in-addition-to-standard-lipid-lowering-therapy-in-patients-at-high-risk-for-vascular-disease
#18
Manon C Stam-Slob, Yolanda van der Graaf, Anthonius de Boer, Jacoba P Greving, Frank L J Visseren
BACKGROUND: As proprotein convertase subtilisin-kexin type 9 (PCSK9) monoclonal antibodies are entering the market, we assessed the cost-effectiveness of PCSK9 inhibition added to standard lipid-lowering therapy in patient groups at high risk for major adverse cardiovascular events (MACE). METHODS: A lifetime Markov Model was designed to estimate healthcare costs, quality-adjusted life years (QALYs) and incremental cost-effectiveness ratios (ICERs) for PCSK9 inhibition added to standard therapy in patients with Familial Hypercholesterolemia (FH), patients with vascular disease at high MACE recurrence risk, and patients with vascular disease with diabetes mellitus...
February 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29302811/gene-expression-analysis-in-peripheral-blood-cells-of-patients-with-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome-hlrcc-identification-of-nrf2-pathway-activation
#19
Carolina Arenas Valencia, Liliana Lopez Kleine, Andres M Pinzon Velasco, Andrea Y Cardona Barreto, Clara E Arteaga Diaz
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253-260, 2014). HLRCC is caused by germline mutations in the FH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. In FH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to be responsible for the malignant transformation (Yang et al...
January 4, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29300387/patient-understanding-of-satisfaction-with-and-perceived-utility-of-whole-genome-sequencing-findings-from-the-medseq-project
#20
J Scott Roberts, Jill O Robinson, Pamela M Diamond, Archana Bharadwaj, Kurt D Christensen, Kaitlyn B Lee, Robert C Green, Amy L McGuire
PurposeTo examine patients' experiences with clinical use of whole-genome sequencing (WGS).MethodsA randomized trial compared primary care and cardiology patients receiving WGS and family health history (FH) information or FH information alone. 202 patients were surveyed before (BL) and up to 6 months after disclosure of results (6M).ResultsPatients (mean age = 55 years; 50% female; 81% college graduates) reported low levels of decisional regret (mean: 7.1/100) and high satisfaction with physicians' disclosure of results (median: 29/30)...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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