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https://www.readbyqxmd.com/read/28742866/contribution-of-factor-h-binding-protein-sequence-to-the-cross-reactivity-of-meningococcal-native-outer-membrane-vesicle-vaccines-with-over-expressed-fhbp-variant-group-1
#1
Arianna Marini, Omar Rossi, Maria Grazia Aruta, Francesca Micoli, Simona Rondini, Serafina Guadagnuolo, Isabel Delany, Ian R Henderson, Adam F Cunningham, Allan Saul, Calman A MacLennan, Oliver Koeberling
Factor H-binding protein (fHbp) is an important meningococcal vaccine antigen. Native outer membrane vesicles with over-expressed fHbp (NOMV OE fHbp) have been shown to induce antibodies with broader functional activity than recombinant fHbp (rfHbp). Improved understanding of this broad coverage would facilitate rational vaccine design. We performed a pair-wise analysis of 48 surface-exposed amino acids involved in interacting with factor H, among 383 fHbp variant group 1 sequences. We generated isogenic NOMV-producing meningococcal strains from an African serogroup W isolate, each over-expressing one of four fHbp variant group 1 sequences (ID 1, 5, 9, or 74), including those most common among invasive African meningococcal isolates...
2017: PloS One
https://www.readbyqxmd.com/read/28735998/assessment-of-spleen-filtrate-function-in-renal-transplant-recipients-using-technetium-99m-stannous-colloid-liver-spleen-scan
#2
N C Araújo, M B Neves, C A Mandarim-de-Lacerda, M M C Orlando
BACKGROUND: Functional hyposplenism (FH) is indicated by an anatomically present spleen that fails to take up radiolabeled colloid. The occurrence of FH has been reported in a small group of renal transplant recipients based on hematologic parameters. The aim of this study was to replicate this association in a larger group of renal transplant recipients with the use of technetium-99m-stannous colloid liver-spleen scan to assess the spleen function. METHODS: This survey based on single samples enrolled 101 unselected adult patients with functional kidney grafts >180 days after transplantation...
July 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28734274/genetic-analysis-of-iranian-patients-with-familial-hypercholesterolemia
#3
Mahdis Ekrami, Maryam Torabi, Soudeh Ghafouri-Fard, Javad Mowla, Bahram Mohammad Soltani, Feyzollah Hashemi-Gorji, Zahra Mohebbi, Mohammad Miryounesi
Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. Methods: Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome diagnostic criteria...
July 23, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28731911/expert-and-self-assessment-of-lifetime-symptoms-and-diagnosis-of-major-depressive-disorder-in-large-scale-genetic-studies-in-the-general-population-comparison-of-a-clinical-interview-and-a-self-administered-checklist
#4
Jessica Martin, Fabian Streit, Jens Treutlein, Maren Lang, Josef Frank, Andreas J Forstner, Franziska Degenhardt, Stephanie H Witt, Thomas G Schulze, Sven Cichon, Markus M Nöthen, Marcella Rietschel, Jana Strohmaier
Major depression disorder (MDD) is a complex neuropsychiatric disorder and an increasing number of genetic risk variants are being identified. Investigation of their influence in the general population requires accurate and efficient assessment of depressive symptoms. Here, clinical interviews conducted by clinicians are the gold standard. We investigated whether valid and reliable clinical phenotypes can be obtained efficiently using self-administered instruments. Lifetime depressive symptoms and lifetime MDD diagnosis were assessed in 464 population-based individuals using a clinical interview and a structured, self-administered checklist...
July 20, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28728569/parents-and-caregivers-experiences-and-behaviours-when-eating-out-with-children-with-a-food-hypersensitivity
#5
Fiona M Begen, Julie Barnett, Miriam Barber, Ros Payne, M Hazel Gowland, Jane S Lucas
BACKGROUND: For parents and caregivers of food hypersensitive (FH) children, accommodating their child's dietary needs when eating out can be a challenging experience. This study explored caregivers' experiences and behaviours when eating out with their FH child in order to gain insights into how they support and prepare their child in negotiating safe eating out experiences. METHODS: A cross-sectional, qualitative design was used. In depth, semi-structured interviews were carried out with 15 caregivers of children with FH...
July 20, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28728124/thin-ferrihydrite-sediment-capping-sequestrates-phosphorus-experiencing-redox-conditions-in-a-shallow-temperate-lacustrine-wetland
#6
Yuanchun Zou, Michael R Grace, Keryn L Roberts, Xiaofei Yu
Synthesized ferrihydrite (Fh) with the dosages of 0.3, 0.6 and 0.9 cm thickness (labeled as Fh, 2Fh and 3Fh respectively, equivalent to 248-774 g/m(2)) were deployed to serve as the reactive capping layer covering the Ornamental Lake sediments, the Royal Botanic Garden of Melbourne. The sediments were exposed to an alternating regime of oxic/anoxic conditions using laboratory reactors for 45 days. Dynamics of dissolved oxygen (DO), pH, filterable reactive phosphorus (FRP), filterable ammonium (NH4(+)), nitrate and nitrite (NOx), total dissolved nitrogen (TDN) and dissolved iron (Fe) of overlying water were examined...
July 12, 2017: Chemosphere
https://www.readbyqxmd.com/read/28725328/heterozygous-familial-hypercholesterolemia-with-apoe-haplotype-a-prospective-harbinger-of-a-catastrophic-cardiovascular-event
#7
Glenmore Lasam, Siddesh Shambhu, Robert Fishberg
We report a very young man with heterozygous familial hypercholesterolemia (FH) with APOE haplotype and a significant cardiac family history who underwent cardiac catheterization for intermittent episodes of exertional dyspnea and was noted to have a severe triple vessel coronary artery disease (CAD). He underwent coronary artery bypass graft (CABG) surgery which was uneventful. He was discharged on antiplatelet, beta blocker, nitrate, and statin. On routine health maintenance evaluation, he had no cardiac complaints and had been tolerating well his activities of daily living...
June 2017: Cardiology Research
https://www.readbyqxmd.com/read/28723755/comparison-of-free-hand-fluoroscopic-guidance-and-electromagnetic-navigation-in-distal-locking-of-femoral-intramedullary-nails
#8
Bing Han, Zhigang Shi, Yu Fu, Yong Ye, Juehua Jing, Jun Li
BACKGROUND: Although the method has been used widely, one of the greatest challenges for intramedullary nailing is to position the distal locking screw. A new technology, the electromagnetic navigation system, is a radiation-free way to locate the position of the drill bit and provide 3-dimensional real-time feedback of location and orientation of the drill bit relative to the locking holes. The purpose of our study was to evaluate the reliability and efficiency of the free-hand technique compared to the new electromagnetic navigation system...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28720665/targeted-exome-sequencing-of-krebs-cycle-genes-reveals-candidate-cancer-predisposing-mutations-in-pheochromocytomas-and-paragangliomas
#9
Laura Remacha, Iñaki Comino-Méndez, Susan Richter, Laura Contreras, Maria Currás-Freixes, Guillermo Pita, Rocío Letón, Antonio Galarreta, Rafael Torres-Pérez, Emiliano Honrado, Scherezade Jiménez, Lorena Maestre, Sebastian Moran, Manel Esteller, Jorgina Satrústegui, Graeme Eisenhofer, Mercedes Robledo, Alberto Cascon
Purpose: Mutations in Krebs cycle genes are frequently found in patients with pheochromocytomas/paragangliomas. Disruption of SDH, FH or MDH2 enzymatic activities lead to accumulation of specific metabolites, which give rise to epigenetic changes in the genome that cause a characteristic hypermethylated phenotype. Tumors showing this phenotype, but no alterations in the known predisposing genes, could harbor mutations in other Krebs cycle genes. <p>Experimental Design: We used downregulation and methylation of RBP1, as a marker of a hypermethylation phenotype, to select eleven pheochromocytomas and paragangliomas for targeted exome sequencing of a panel of Krebs cycle-related genes...
July 18, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28719663/the-prevalence-of-familial-hypercholesterolemia-in-the-west-siberian-region-of-the-russian-federation-a-substudy-of-the-esse-rf
#10
Alexandra I Ershova, Alexey N Meshkov, Stepan S Bazhan, Marina A Storozhok, Alexey Y Efanov, Irina V Medvedeva, Elena V Indukaeva, Yana V Danilchenko, Olga K Kuzmina, Olga L Barbarash, Alexander D Deev, Svetlana A Shalnova, Sergey A Boytsov
BACKGROUND: The prevalence of familial hypercholesterolemia (FH) in Russia has not previously been evaluated. The aim of our study was to investigate the prevalence of FH in the population of the West Siberian region of Russia, and then estimate the frequency of coronary artery disease (CAD) and treatment with cholesterol-lowering medication in FH patients. METHODS: The sample of our study consisted of participants from the population-based cohort of The Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study (ESSE-RF), conducted in the Tyumen and Kemerovo regions (1,630 and 1,622 people, respectively, aged 25-64)...
2017: PloS One
https://www.readbyqxmd.com/read/28717233/effect-of-ldl-cholesterol-statins-and-presence-of-mutations-on-the-prevalence-of-type-2-diabetes-in-heterozygous-familial-hypercholesterolemia
#11
Elisenda Climent, Sofía Pérez-Calahorra, Victoria Marco-Benedí, Nuria Plana, Rosa Sánchez, Emilio Ros, Juan F Ascaso, Jose Puzo, Fátima Almagro, Carlos Lahoz, Fernando Civeira, Juan Pedro-Botet
Patients with heterozygous familial hypercholesterolemia (HeFH) have been reported to be less vulnerable to type 2 diabetes mellitus (T2DM), although the mechanism is unknown. The aims of the present study were to assess the effects of low density lipoprotein (LDL) cholesterol concentration and the presence of FH-causing mutations on T2DM prevalence in HeFH. Data were collected from the Dyslipidemia Registry of the Spanish Arteriosclerosis Society. Inclusion criteria were definite or probable HeFH in patients aged ≥18 years...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28717089/an-autopsy-case-of-fulminant-hepatitis-in-a-patient-with-multiple-sclerosis-treated-by-interferon-beta-1a
#12
Yuichi Yamazaki, Aya Suzuki, Kimitoshi Hirayanagi, Yusuke Tsukagoshi, Ryota Uehara, Kazuhiko Horiguchi, Tatsuya Ohyama, Takuya Tomaru, Norio Horiguchi, Sumihito Nobusawa, Hayato Ikota, Ken Sato, Satoru Kakizaki, Motoyasu Kusano, Yoshio Ikeda, Hideaki Yokoo, Masanobu Yamada
A 44-year-old woman with multiple sclerosis (MS) receiving interferon (IFN)-beta-1a treatment was admitted to a local hospital for severe icterus and liver injury. She was transferred to our university hospital because fulminant hepatitis (FH) was suspected. She was diagnosed with acute-type FH based on hepatic coma, severe liver injury and liver failure, and she received plasma exchange and continuous hemodiafiltration therapy. On hospital day 6, she died from liver failure despite intensive care. An autopsy revealed histological findings consistent with FH...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28715059/the-cost-effectiveness-of-genetic-screening-for-familial-hypercholesterolemia-a-systematic-review
#13
A Rosso, E Pitini, E D'Andrea, A Massimi, C De Vito, C Marzuillo, P Villari
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder that leads to elevated plasma LDL-cholesterol levels and premature coronary heart disease (CHD). An understanding of the mutations responsible for FH and the effectiveness of statins in lowering the risk of CHD in FH patients has increased interest in genetic screening strategies to improve FH diagnosis. In this study, we aimed to evaluate the cost-effectiveness of such strategies. METHODS: We performed a systematic review of full economic evaluations that assessed the cost-effectiveness of FH genetic screening strategies...
September 2017: Annali di Igiene: Medicina Preventiva e di Comunità
https://www.readbyqxmd.com/read/28713105/evaluation-of-the-current-techniques-and-introduction-of-a-novel-approach-for-estimating-maxillary-anterior-teeth-dimensions
#14
Mohammed E Sayed, Amit Porwal, Nida A Al-Faraj, Amal M Bajonaid, Hassan A Sumayli
INTRODUCTION: Several techniques and methods have been proposed to estimate the anterior teeth dimensions in edentulous patients. However, this procedure remains challenging especially when preextraction records are not available. Therefore, the purpose of this study is to evaluate some of the existing extraoral and intraoral methods for estimation of anterior tooth dimensions and to propose a novel method for estimation of central incisor width (CIW) and length (CIL) for Saudi population...
July 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28709933/identification-of-novel-biomarker-and-therapeutic-target-candidates-for-diagnosis-and-treatment-of-follicular-carcinoma
#15
Xianyin Lai, Christopher B Umbricht, Kurt Fisher, Justin Bishop, Qiuying Shi, Shaoxiong Chen
Distinguishing follicular carcinoma from follicular adenoma, based on cytomorphological features, has always been challenging to cytopathologists. Identification of biomarkers for improving diagnostic accuracy is important for clinical management. Meanwhile, it is critical to identify therapeutic target candidates for treatment of follicular carcinoma. Currently, no reliable diagnostic protein biomarkers and therapeutic targets are available. To explore novel protein biomarker and therapeutic target candidates, a liquid chromatography-tandem mass spectrometry approach was applied to analyze control, follicular adenoma, and follicular carcinoma using formalin-fixed, paraffin-embedded tissue samples...
July 11, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28707765/tissue-microarray-methodology-identifies-complement-pathway-activation-and-dysregulation-in-progressive-multiple-sclerosis
#16
Sam Loveless, James W Neal, Owain W Howell, Katharine E Harding, Patrick Sarkies, Rhian Evans, Ryan J Bevan, Svetlana Hakobyan, Claire L Harris, Neil P Robertson, B Paul Morgan
BACKGROUND: The complement pathway has potential contributions to both white (WM) and grey matter (GM) pathology in Multiple Sclerosis (MS). A quantitative assessment of complement involvement is lacking. OBJECTIVE: Tissue MicroArray methodology was used in conjunction with immunohistochemistry to investigate the localization of complement pathway proteins in progressive MS cortical GM and subcortical WM. METHODS: Antibodies targeting complement proteins C1q, C3b, regulatory proteins C1 inhibitor (C1INH), complement receptor 1 (CR1), clusterin, factor H (FH) and the C5a anaphylatoxin receptor (C5aR) were utilised alongside standard markers of tissue pathology...
July 14, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28701632/clinical-features-and-gaps-in-the-management-of-probable-familial-hypercholesterolemia-and-cardiovascular-disease
#17
Barak Zafrir, Ayman Jubran, Gil Lavie, David A Halon, Moshe Y Flugelman, Chen Shapira
BACKGROUND: Familial hypercholesterolemia (FH) is associated with premature atherosclerotic cardiovascular disease (ASCVD). The introduction of potent therapeutic agents underlies the importance of improving clinical diagnosis and treatment gaps in FH.Methods and Results:A regional database of 1,690 adult patients with high-probability FH based on age-dependent peak-low-density lipoprotein cholesterol (LDL-C) cut-offs and exclusion of secondary causes of severe hypercholesterolemia, was examined to explore the clinical manifestations and current needs in the management of ASCVD, which was present in 248 patients (15%), of whom 83% had coronary artery disease (CAD); 19%, stroke; and 13%, peripheral artery disease...
July 12, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28701353/known-and-unknowns-in-the-care-of-paediatric-familial-hypercholesterolaemia
#18
Andrew C Martin, Samuel S Gidding, Albert Wiegman, Gerald F Watts
Familial hypercholesterolaemia (FH) is a common genetic disorder that causes elevated low-density lipoprotein (LDL)-cholesterol levels from birth. Untreated FH accelerates atherosclerosis and predisposes individuals to premature coronary artery disease (CAD) in adulthood. Mendelian randomization studies have demonstrated that LDL-cholesterol has both a causal and cumulative effect on the risk of CAD. This supports clinical recommendations that children with FH commence pharmacological treatment from age 8-10 years, to reduce the burden of hypercholesterolaemia...
July 12, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28700432/novel-fumarate-hydratase-mutation-in-siblings-with-early-onset-uterine-leiomyomas-and-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome
#19
Vinay Gunnala, Nigel Pereira, Mohamad Irani, Debra Lilienthal, Edyta C Pirog, Robert Soslow, Thomas A Caputo, Rony Elias, Isaac Kligman, Zev Rosenwaks
Hereditary leiomyomatosis renal cell cancer syndrome is an autosomal dominant disorder characterized by uterine and cutaneous leiomyomas and increased predisposition to renal cell carcinoma, papillary type II. The syndrome is caused by heterozygous mutations to the fumarate hydratase (FH) gene located on chromosome 1. Affected females generally present with early onset, atypical uterine leiomyomas and cutaneous findings, however, delays in diagnosis are very common in patients with isolated uterine findings...
July 11, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28700018/peripheral-vascular-resistance-impairment-during-isometric-physical-exercise-in-normotensive-offspring-of-hypertensive-parents
#20
Natália Portela, Josária Ferraz Amaral, Pedro Augusto de Carvalho Mira, Livia Victorino de Souza, Daniel Godoy Martinez, Mateus Camaroti Laterza
Background: A family history of hypertension is associated with vascular and autonomic abnormalities, as well as an impaired neurohemodynamic response to exercise. Objective: To test the hypothesis that normotensive individuals with a family history of hypertension present an impaired peripheral vascular resistance response to exercise. Methods: The study included 37 normotensive volunteers of both sexes who were sedentary, eutrophic, and nonsmokers, comprising 23 with (FH+; 24 ± 3 years) and 14 without (FH-; 27 ± 5 years) a family history of hypertension...
July 10, 2017: Arquivos Brasileiros de Cardiologia
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