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https://www.readbyqxmd.com/read/28211680/two-way-gold-nanoparticle-label-free-sensing-of-specific-sequence-and-small-molecule-targets-using-switchable-concatemers
#1
Longjiao Zhu, Xiangli Shao, Yunbo Luo, Kunlun Huang, Wentao Xu
A two-way colorimetric biosensor based on unmodified gold nanoparticles (GNPs) and a switchable double-stranded DNA (dsDNA) concatemer have been demonstrated. Two hairpin probes (H1&H2) were first designed that provided the fuels to assemble the dsDNA concatemers via hybridization chain reaction (HCR). A functional hairpin (FH) was rationally designed to recognize the target sequences. All the hairpins contained single-stranded DNA (ssDNA) loop and sticky-ends to prevent GNPs from salt-induced aggregation. In the presence of target sequence, the capture probe blocked in the FH recognizes the target to form a duplex DNA, which causes the release of the initiator probe by FH conformational change...
February 17, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28196407/comprehensive-genomic-and-phenotypic-characterization-of-germline-fh-deletion-in-hereditary-leiomyomatosis-and-renal-cell-carcinoma-hlrcc
#2
Cathy D Vocke, Christopher J Ricketts, Maria J Merino, Ramaprasad Srinivasan, Adam R Metwalli, Lindsay A Middelton, James Peterson, Youfeng Yang, W Marston Linehan
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a familial cancer syndrome associated with the development of cutaneous and uterine leiomyomas, and an aggressive form of type 2 papillary kidney cancer. HLRCC is characterized by germline mutation of the FH gene. This study evaluated the prevalence and clinical phenotype of FH deletions in HLRCC patients. Patients with phenotypic manifestations consistent with HLRCC who lacked detectable germline FH intragenic mutations were investigated for FH deletion...
February 14, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28195892/establishment-of-a-reliable-horizontal-reference-plane-for-3-dimensional-facial-soft-tissue-evaluation-before-and-after-orthognathic-surgery
#3
Peerasak Chortrakarnkij, Daniel Lonic, Hsiu-Hsia Lin, Lun-Jou Lo
BACKGROUND: This study aims to demonstrate the reliability of our proposed facial reference system in the horizontal axis using 3-dimensional photogrammetry and to find a correlation between this plane and the Frankfurt horizontal (FH) plane. METHODS: Forty-one patients were enrolled. Three-dimensional facial images were taken before and 6 months after orthognathic surgery. Superimposition was carried out, and differences in landmark position were evaluated. Two constant landmarks were selected to construct a reference system within a standardized reference frame...
February 14, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28186938/an-online-questionnaire-survey-of-uk-general-practitioners-knowledge-and-management-of-familial-hypercholesterolaemia
#4
See Kwok, Jing Pang, Safwaan Adam, Gerald F Watts, Handrean Soran
OBJECTIVE: Early diagnosis and treatment of heterozygous familial hypercholesterolaemia (HeFH) is known to be associated with reduced mortality from premature coronary artery disease, but HeFH remains underdiagnosed. This survey aims to determine knowledge and current management of HeFH in general practice. SETTING: An online questionnaire was administered to general practitioners' (GPs') in the North West of England to assess their knowledge and management of HeFH...
November 9, 2016: BMJ Open
https://www.readbyqxmd.com/read/28183791/appearance-of-qrs-fragmentation-late-after-mustard-senning-repair-is-associated-with-adverse-outcome
#5
Frederik Helsen, Bert Vandenberk, Pieter De Meester, Alexander Van De Bruaene, Charlien Gabriels, Els Troost, Marc Gewillig, Bart Meyns, Rik Willems, Werner Budts
OBJECTIVE: To evaluate if development of fragmented QRS (fQRS) complexes, a marker of inhomogeneous ventricular activation due to myocardial fibrosis, is associated with adverse outcome in adults after Mustard/Senning repair for d-transposition of the great arteries (d-TGA). METHODS: Adults with atrial switch repair for d-TGA were selected from the database of a tertiary care hospital. Exclusion criteria were systemic right ventricular (RV) assist device or heart transplantation (HTx) before the age of 16, or fQRS already present at first visit to the Adult Congenital Heart Disease clinic...
February 9, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28179607/half-a-century-tales-of-familial-hypercholesterolemia-fh-in-japan
#6
Hiroshi Mabuchi
Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. To prevent the under-diagnosis and under-treatment of FH, the diagnostic criteria should be more convenient and user-friendly...
February 8, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28171700/utility-of-prospective-pathologic-evaluation-to-inform-clinical-genetic-testing-for-hereditary-leiomyomatosis-and-renal-cell-carcinoma
#7
Ryan P Kopp, Kelly L Stratton, Emily Glogowski, Kasmintan A Schrader, Rohini Rau-Murthy, Paul Russo, Jonathan A Coleman, Kenneth Offit
BACKGROUND: Patients with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) resulting from fumarate hydratase (FH) mutations may present with skin, uterine, and renal tumors, with each having unique pathologic features. This study investigated the association between prospectively identified suspicious pathology (SP) and FH mutations when patients were referred for genetic testing. METHODS: This was an institutional review board-approved cohort study of patients receiving FH testing from 2008 to 2013...
February 7, 2017: Cancer
https://www.readbyqxmd.com/read/28165631/a-distinctive-low-grade-oncocytic-fumarate-hydratase-deficient-renal-cell-carcinoma-morphologically-reminiscent-of-sdh-deficient-renal-cell-carcinoma
#8
Steven C Smith, Deepika Sirohi, Chisato Ohe, Jonathan B McHugh, Jason L Hornick, Jigna Kalariya, Sushil Karia, Katie Snape, Shirley V Hodgson, Andi K Cani, Daniel Hovelson, Daniel J Luthringer, Guido Martignoni, Ying-Bei Chen, Scott A Tomlins, Rohit Mehra, Mahul B Amin
AIMS: Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a high grade, aggressive tubulopapillary carcinoma, arising predominantly in the setting of the hereditary leiomyomatosis-renal cell carcinoma syndrome of familial uterocutaneous leiomyomatosis and deficiency of fumarate hydratase. In contrast, succinate dehydrogenase (SDH)-deficient RCC is a lower grade oncocytic carcinoma with cytoplasmic flocculence/vacuolation and inclusions, arising mostly in individuals harboring germline mutations of subunit B of the SDH complex (SDHB)...
February 6, 2017: Histopathology
https://www.readbyqxmd.com/read/28165072/comparison-of-tetrel-bonds-in-neutral-and-protonated-complexes-of-pyridinetf3-and-furantf3-t-c-si-and-ge-with-nh3
#9
Mingxiu Liu, Qingzhong Li, Steve Scheiner
Ab initio calculations have been performed for the complexes H(+)-PyTX3NH3 and H(+)-furanTF3NH3 (T = C, Si, and Ge; X = F and Cl) with focus on geometries, energies, orbital interactions, and electron densities to study the influence of protonation on the strength of tetrel bonding. The primary interaction mode between α/β-furanCF3/p-PyCF3 and NH3 changes from an FH hydrogen bond to a CN tetrel bond as a result of protonation. Importantly, the protonation has a prominent enhancing effect on the strength of tetrel bonding with an increase in binding energy from 14 to 30 kcal mol(-1)...
February 6, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28164787/factor-h-specifically-capture-novel-factor-h-binding-proteins-of-streptococcus-suis-and-contribute-to-the-virulence-of-the-bacteria
#10
Quan Li, Caifeng Ma, Yang Fu, Yanan He, Yanfei Yu, Dechao Du, Huochun Yao, Chengping Lu, Wei Zhang
Factor H (FH), a regulatory protein of the complement system, can bind specifically to factor H-binding proteins (FHBPs) of Streptococcus suis serotype 2 (SS2), which contribute to evasion of host innate immune defenses. In the present study, we aimed to identify novel FHBPs and characterize the biological functions of FH in SS2 pathogenesis. Here, a method that combined proteomics and Far-western blotting was developed to identify the surface FHBPs of SS2. With this method, fourteen potential novel FHBPs were identified among SS2 surface proteins...
March 2017: Microbiological Research
https://www.readbyqxmd.com/read/28161202/analysis-of-children-and-adolescents-with-familial-hypercholesterolemia
#11
Ilenia Minicocci, Simone Pozzessere, Cristina Prisco, Anna Montali, Alessia di Costanzo, Eliana Martino, Francesco Martino, Marcello Arca
OBJECTIVE: To evaluate the effectiveness of criteria based on child-parent assessment in predicting familial hypercholesterolemia (FH)-causative mutations in unselected children with hypercholesterolemia. STUDY DESIGN: LDLR, APOB, and PCSK9 genes were sequenced in 78 children and adolescents (mean age 8.4 ± 3.7 years) with clinically diagnosed FH. The presence of polygenic hypercholesterolemia was further evaluated by genotyping 6 low-density lipoprotein cholesterol (LDL-C)-raising single-nucleotide polymorphisms...
February 1, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28157722/genotype-guided-diagnosis-in-familial-hypercholesterolemia-clinical-management-and-concerns
#12
Paul N Hopkins, Stacey R Lane
PURPOSE OF REVIEW: In this review, we examine benefits and concerns associated with genetic testing in the clinical management of familial hypercholesterolemia (FH). RECENT FINDINGS: Application of next-generation sequencing and other advances provide improved yield of causal mutations compared with older methods and help disclose underlying pathophysiology in many instances. Concerns regarding clinical application of genetic testing remain. SUMMARY: More widespread application of genetic testing for FH in the USA may be forthcoming...
February 2, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28155622/the-role-of-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-in-the-management-of-dyslipidemia
#13
Konstantinos Tziomalos
BACKGROUND: Treatment with statins substantially reduces cardiovascular morbidity and mortality both in patients with and without established cardiovascular disease. Accordingly, statins represent the cornerstone of lipid-lowering treatment. However, there are still unmet clinical needs in the management of dyslipidemia. Indeed, it is difficult to achieve low-density lipoprotein cholesterol (LDL-C) targets in many patients, particularly in those at very high cardiovascular risk or in those with very high baseline LDL-C levels [e...
February 1, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28152564/age-of-onset-and-family-history-as-indicators-of-polygenic-risk-for-major-depression
#14
Anna R Docherty, Alexis C Edwards, Fuzhong Yang, Roseann E Peterson, Chelsea Sawyers, Daniel E Adkins, Ashlee A Moore, Bradley T Webb, Silviu A Bacanu, Jonathan Flint, Kenneth S Kendler
BACKGROUND: The extent to which earlier age of onset (AO) is a reflection of increased genetic risk for major depression (MD) is still unknown. Previous biometrical research has provided mixed empirical evidence for the genetic overlap of AO with MD. If AO is demonstrated to be relevant to molecular polygenic risk for MD, incorporation of AO as a phenotype could enhance future genetic studies. METHODS: This research estimated the SNP-based heritability of AO in the China, Oxford and VCU Experimental Research on Genetic Epidemiology (CONVERGE) case-control sample (N = 9,854; MD case, n = 4,927)...
February 2, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28152478/cytotoxic-effect-of-ferrimagnetic-glass-ceramic-nanocomposites-on-bone-osteosarcoma-cells
#15
Amira M Gamal-Eldeen, Salwa A M Abdel-Hameed, Sherien M El-Daly, Mona A M Abo-Zeid, Menha M Swellam
This work pointed out the anti-cancer effect of ferrimagnetic glass ceramic nanocomposites (CaO-ZnO-Fe2O3-SiO2), which contain high amount of magnetite (∼60%), crystallite size <100nm, and different nucleating agents on bone cancer Saos-2 cells. The cell viability was inhibited by FH and FW to <50% and <25%, respectively, with/without magnetism, and both also reduced mitochondrial transmembrane potential (ΔYm), with/without magnetism (no influence of magnetism). Histone deacetylase (HDAC) activity was inhibited by FH, FW, and FHPNT, with/without magnetism...
January 30, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28151867/an-analysis-of-342-patients-with-refractory-gastroesophageal-reflux-disease-symptoms-using-questionnaires-high-resolution-manometry-and-impedance-ph-monitoring
#16
Fei Wang, Ping Li, Guo-Zhong Ji, Lin Miao, Zhining Fan, Sihong You, Xueqin Pan, Xia Chen
Symptoms of refractory gastroesophageal reflux disease (GERD) are commonly encountered in clinical practice. The aim of this study was to analyze the data obtained from questionnaires, high-resolution manometry (HRM), and ambulatory impedance-pH monitoring in patients with persisting GERD symptoms and to explore the possible underlying causes for this clinical presentation. After completing the questionnaires, the selected patients underwent endoscopy, HRM, and ambulatory impedance-pH monitoring. Based on the results of these investigations, we divided the patients into 4 groups: reflux esophagitis (RE), hypersensitive esophagus (HE), functional heartburn (FH), and nonerosive gastroesophageal reflux disease (NERD)...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28134048/surgical-treatment-for-pipkin-type-iv-femoral-head-fracture
#17
Yi-Hsun Yu, Yung-Heng Hsu, Ying-Chao Chou, I-Chuan Tseng, Chun-Yi Su, Chi-Chung Wu
PURPOSE: Pipkin type IV femoral head (FH) fracture was thought as poor prognosis. There were several surgical approaches and treatments for this difficult fracture. However, there was no one treatment superior to another. We reviewed a serious of patients with Pipkin type IV FH fracture underwent surgery via a modified Gibson approach. METHODS: We reviewed a consecutive series of nine patients with Pipkin type IV FH fracture under surgery via a modified Gibson approach between 2012 and 2013...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28131612/associations-between-occlusion-jaw-relationships-craniofacial-dimensions-and-the-occurrence-of-palatally-displaced-canines
#18
Fariborz Amini, Shayesteh Hamedi, Mona Haji Ghadimi, Vahid Rakhshan
BACKGROUND AND PURPOSE: Cephalometric and arch measurements might predict the occurrence of a palatally-displaced impacted maxillary canine (PDC). Despite their clinical importance, studies in this regard are limited and controversial. METHODS: In this case-control study, 35 PDC patients and 77 controls aged over 13 years were examined. Eleven cephalometric measurements: N-S, ANS-PNS, ANS-N, S-N-ANS, facial angle (FH/NPog), SNA, SNB, Y-axis (SN/SGn), gonial angle, Go-Gn/SN, and Jarabak Index were performed...
January 25, 2017: International Orthodontics
https://www.readbyqxmd.com/read/28128795/local-complement-activation-in-aqueous-humor-in-patients-with-age-related-macular-degeneration
#19
T Schick, M Steinhauer, A Aslanidis, L Altay, M Karlstetter, T Langmann, M Kirschfink, S Fauser
PurposeTo investigate complement activation in aqueous humor and in plasma of patients with neovascular age-related macular degeneration (nAMD).Patients and methodsAqueous humor and EDTA-plasma of 31 nAMD patients and 30 age-matched controls was collected. The levels of the complement factor 3 (C3), the regulators factor H (FH), and factor I (FI), and of the complement activation products Ba, C3a, and the terminal complement complex (sC5b-9) were measured. Associations between complement levels and phenotype were determined using Mann-Whitney U-test...
January 27, 2017: Eye
https://www.readbyqxmd.com/read/28123161/estimated-prevalence-of-heterozygous-familial-hypercholesterolemia-in-patients-with-acute-coronary-syndrome
#20
Hirotoshi Ohmura, Yoshifumi Fukushima, Atsushi Mizuno, Koichiro Niwa, Yohei Kobayashi, Toshiaki Ebina, Kazuo Kimura, Shun Ishibashi, Hiroyuki Daida
Heterozygous familial hypercholesterolemia (FH) represents a strong risk for development of premature coronary artery disease (CAD). However, the majority of patients with FH are undiagnosed and the prevalence likely represents an underestimate in most countries. In Japan, the possible contribution of FH to the development of CAD may be higher because of the low incidence of CAD among the general population. We estimated the prevalence of heterozygous FH by measuring Achilles tendon thickness (ATT) in patients with acute coronary syndrome (ACS)...
February 7, 2017: International Heart Journal
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