keyword
MENU ▼
Read by QxMD icon Read
search

FH

keyword
https://www.readbyqxmd.com/read/28647177/infectious-diseases-in-solid-organ-transplant-recipients-analysis-of-autopsied-cases-in-japan
#1
Yuhko Suzuki, Akira Kenjo, Tomiteru Togano, Natsuo Yamamoto, Hitoshi Ohto, Hikaru Kume
BACKGROUND: With the improvements in immunosuppressive agents and graft survival, infections such as mycoses have become major complications after solid organ transplantation (SOT). METHODS: Our group has continuously updated an epidemiological database of visceral mycoses (VM) among autopsy cases in Japan since 1989. Data on infectious agents and clinical information were complied using similar procedures. RESULTS: Among the all autopsied cases studied, 356 undergone SOT...
June 21, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/28645073/analysis-of-ldlr-variants-from-homozygous-fh-patients-carrying-multiple-mutations-in-the-ldlr-gene
#2
Long Jiang, Asier Benito-Vicente, Ling Tang, Aitor Etxebarria, Wei Cui, Kepa B Uribe, Xiao-Dong Pan, Helena Ostolaza, Shi-Wei Yang, Yu-Jie Zhou, Cesar Martin, Lu-Ya Wang
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease with widespread global prevalence that partially accounts for the high prevalence of premature coronary heart disease. Although the majority of research on FH has focused on single heterozygous LDLR mutations, there have been limited reports of double LDLR mutations on the same chromosome. The aim of this study was to gain insight into the clinical consequences of the presence of multiple mutations in the LDLR gene...
June 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28637873/disease-linked-mutations-in-factor-h-reveal-pivotal-role-of-cofactor-activity-in-self-surface-selective-regulation-of-complement-activation
#3
Heather Kerr, Edwin Wong, Elisavet Makou, Yi Yang, Kevin Marchbank, David Kavanagh, Anna Richards, Andrew P Herbert, Paul N Barlow
Spontaneous activation enables the complement system to respond very rapidly to diverse threats. Activation is efficiently suppressed by complement factor H (CFH) on self surfaces but not foreign surfaces. The surface selectivity of CFH, a soluble protein containing 20 CCP modules (CCPs 1-20), may be compromised by disease-linked mutations. Which of the several functions of CFH drives its self-surface selectivity remains unknown. We made human CFH mutants in Pichia pastoris. In benchmark studies of CCP-1 variants, recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH while R53H-CFH, linked to atypical haemolytic uraemic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I-cofactor activity (CA)...
June 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28637589/elevated-factor-h-related-protein-1-and-factor-h-pathogenic-variants-decrease-complement-regulation-in%C3%A2-iga-nephropathy
#4
Agustín Tortajada, Eduardo Gutiérrez, Elena Goicoechea de Jorge, Jaouad Anter, Alfons Segarra, Mario Espinosa, Miquel Blasco, Elena Roman, Helena Marco, Luis F Quintana, Josué Gutiérrez, Sheila Pinto, Margarita Lopez-Trascasa, Manuel Praga, Santiago Rodriguez de Córdoba
IgA nephropathy (IgAN), a frequent cause of chronic kidney disease worldwide, is characterized by mesangial deposition of galactose-deficient IgA1-containing immune complexes. Complement involvement in IgAN pathogenesis is suggested by the glomerular deposition of complement components and the strong protection from IgAN development conferred by the deletion of the CFHR3 and CFHR1 genes (ΔCFHR3-CFHR1). Here we searched for correlations between clinical progression and levels of factor H (FH) and FH-related protein 1 (FHR-1) using well-characterized patient cohorts consisting of 112 patients with IgAN, 46 with non-complement-related autosomal dominant polycystic kidney disease (ADPKD), and 76 control individuals...
June 18, 2017: Kidney International
https://www.readbyqxmd.com/read/28637586/soluble-lr11-associates-with-aortic-root-calcification-in-asymptomatic-treated-male-patients-with-familial-hypercholesterolemia
#5
Ranitha Vongpromek, Sven Bos, Gert-Jan R Ten Kate, Hideaki Bujo, Meizi Jiang, Koen Nieman, Wolfgang Schneider, Jeanine E Roeters van Lennep, Adrie J M Verhoeven, Eric J G Sijbrands, Monique T Mulder
BACKGROUND AND AIMS: Despite statin treatment, a high prevalence of severe vascular calcification is found in patients with familial hypercholesterolemia (FH). We assessed the relation between the circulating soluble form of low-density lipoprotein receptor relative with 11 ligand-binding repeats (sLR11), a risk factor for cardiovascular disease, and vascular calcification in asymptomatic statin-treated heterozygous FH patients. METHODS: In 123 asymptomatic heterozygous FH patients (age 40-69 years), aortic root (ARC), aortic valve (AVC) and coronary artery calcification (CAC) were determined with CT-based calcium scoring expressed in Agatston units...
June 9, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28632283/the-impact-of-whole-genome-sequencing-on-the-primary-care-and-outcomes-of-healthy-adult-patients-a-pilot-randomized-trial
#6
Jason L Vassy, Kurt D Christensen, Erica F Schonman, Carrie L Blout, Jill O Robinson, Joel B Krier, Pamela M Diamond, Matthew Lebo, Kalotina Machini, Danielle R Azzariti, Dmitry Dukhovny, David W Bates, Calum A MacRae, Michael F Murray, Heidi L Rehm, Amy L McGuire, Robert C Green
Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value. Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care. Design: Pilot randomized trial. (ClinicalTrials.gov: NCT01736566). Setting: Academic primary care practices. Participants: 9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years...
June 27, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28628081/o-glcnacylation-of-fumarase-maintains-tumour-growth-under-glucose-deficiency
#7
Ting Wang, Qiujing Yu, Jingjie Li, Bin Hu, Qin Zhao, Chunmin Ma, Wenhua Huang, Lingang Zhuo, Houqin Fang, Lujian Liao, Y Eugene Chin, Yuhui Jiang
Chromatin-associated fumarase (FH) affects histone methylation via its metabolic activity. However, whether this effect is involved in gene transcription remains to be clarified. In this study, we show that under glucose deprivation conditions, AMPK phosphorylates FH at Ser75, which in turn forms a complex with ATF2 and participates in promoter activation. FH-catalysed fumarate in promoter regions inhibits KDM2A demethylase activity, and thus maintains the H3K36me2 profile and facilitates gene expression for cell growth arrest...
June 19, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#8
REVIEW
Kris Ann P Schultz, Surya P Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D Wasserman, Lisa R Diller, Laurence Brugières, Harriet Druker, Katherine A Schneider, Rose B McGee, William D Foulkes
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28619117/the-elevation-of-plasma-concentrations-of-apob-48-containing-lipoproteins-in-familial-hypercholesterolemia-is-independent-of-pcsk9-levels
#9
Jean-Philippe Drouin-Chartier, Jean-Charles Hogue, André J Tremblay, Jean Bergeron, Benoît Lamarche, Patrick Couture
BACKGROUND: Previous studies have reported high plasma concentrations of both intestinal apolipoprotein (apo) B-48-containing lipoproteins and PCSK9 in subjects with familial hypercholesterolemia (FH). However, the extent to which LDL receptor deficiency and PCSK9 levels influence plasma apoB-48 concentrations in humans remains to be fully characterized. The objective of the study was to assess the independent association between FH, PCSK9 concentrations and plasma apoB-48 levels in a large cohort of genetically defined FH heterozygotes (HeFH) and homozygotes (HoFH)...
June 15, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28606245/prefrontal-brain-responsiveness-to-negative-stimuli-distinguishes-familial-risk-for-major-depression-from-acute-disorder
#10
Nils Opel, Ronny Redlich, Dominik Grotegerd, Katharina Dohm, Dario Zaremba, Susanne Meinert, Christian Bürger, Leonie Plümpe, Judith Alferink, Walter Heindel, Harald Kugel, Peter Zwanzger, Volker Arolt, Udo Dannlowski
BACKGROUND: Identifying reliable trait markers of familial risk for major depressive disorder (MDD) is a challenge in translational psychiatric research. In individuals with acute MDD, dysfunctional connectivity patterns of prefrontal areas have been shown repeatedly. However, it has been unclear in which neuronal networks functional alterations in individuals at familial risk for MDD might be present and to what extent they resemble findings previously reported in those with acute MDD...
June 12, 2017: Journal of Psychiatry & Neuroscience: JPN
https://www.readbyqxmd.com/read/28606087/suppression-of-experimental-cerebral-malaria-by-disruption-of-malate-quinone-oxidoreductase
#11
Mamoru Niikura, Keisuke Komatsuya, Shin-Ichi Inoue, Risa Matsuda, Hiroko Asahi, Daniel Ken Inaoka, Kiyoshi Kita, Fumie Kobayashi
BACKGROUND: Aspartate, which is converted from oxaloacetate (OAA) by aspartate aminotransferase, is considered an important precursor for purine salvage and pyrimidine de novo biosynthesis, and is thus indispensable for the growth of Plasmodium parasites at the asexual blood stages. OAA can be produced in malaria parasites via two routes: (i) from phosphoenolpyruvate (PEP) by phosphoenolpyruvate carboxylase (PEPC) in the cytosol, or (ii) from fumarate by consecutive reactions catalyzed by fumarate hydratase (FH) and malate:quinone oxidoreductase (MQO) in the mitochondria of malaria parasites...
June 12, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28597895/investigation-of-plasmon-resonance-in-metal-dielectric-nanocavities-for-high-efficiency-photocatalytic-device
#12
Nitul S Rajput, Yang Shao-Horn, Xin-Hao Li, Sang-Gook Kim, Mustapha Jouiad
Photocatalytic nanostructures loaded with metallic nanoparticles are being considered as a potential candidate for designing efficient water splitting devices. Here, we aim to unveil the plasmonic behavior of a device made of Au-TiO2 nanostructures through in-depth investigations combining electron energy loss spectroscopy (EELS) and cathodoluminescence (CL). The experiments confirm the existence of Au bulk plasmon excitation, intrinsic interband transitions, and plasmon losses over a wide range of energies (0...
June 9, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28592388/characterization-of-clinical-cases-of-advanced-papillary-renal-cell-carcinoma-via-comprehensive-genomic-profiling
#13
Sumanta K Pal, Siraj M Ali, Evgeny Yakirevich, Daniel M Geynisman, Jose A Karam, Julia A Elvin, Garrett M Frampton, Xuan Huang, Douglas I Lin, Mark Rosenzweig, Doron Lipson, Philip J Stephens, Jeffrey S Ross, Vincent A Miller, Neeraj Agarwal, Brian Shuch, Toni K Choueiri, Jon H Chung
BACKGROUND: Papillary renal cell carcinoma (PRCC) is a rare subset of RCC. The Cancer Genome Atlas (TCGA) data largely reflect localized disease, and there are limited data for advanced PRCC. OBJECTIVE: To characterize the frequency of genomic alterations (GAs) in patients with advanced PRCC for whom comprehensive genomic profiling (CGP) was performed in the context of routine clinical care. DESIGN, SETTING, AND PARTICIPANTS: Formalin-fixed, paraffin-embedded tissue was obtained for 169 consecutive patients with confirmed PRCC...
May 30, 2017: European Urology
https://www.readbyqxmd.com/read/28586437/psychological-issues-and-cognitive-impairment-in-adults-with-familial-hypercholesterolemia
#14
Mariana Suárez Bagnasco
A literature review about depression, anxiety, illness perception and neurocognitive impairment in adults with familial hypercholesterolemia (FH) was performed. Through PubMed and PsycINFO published studies from 1980 until March 2017 were searched. Two papers assessed depression and anxiety. Four papers explored illness perception. Five studies assessed cognitive impairment. Mean depression and anxiety scores were within normal range. From the reviewed research, it can be concluded that deficits in executive functioning and memory appear in FH patients between 18 and 40 years old, and mild cognitive impairment in older than 50...
June 6, 2017: Family Practice
https://www.readbyqxmd.com/read/28585326/chicken-feather-hydrolysate-as-inexpensive-complex-nitrogen-source-for-pha-production-by-cupriavidus-necator-on-waste-frying-oils
#15
P Benesova, D Kucera, I Marova, S Obruca
The chicken feather hydrolysate (FH) has been tested as potential complex nitrogen source for the production of polyhydroxyalkanoates by Cupriavidus necator H16 when waste frying oil was used as a carbon source. The addition of FH into the mineral salt media with decreased inorganic nitrogen source concentration improved the yields of biomass and polyhydrohyalkanoates. The highest yields were achieved when 10 vol. % of FH prepared by microwave assisted alkaline hydrolysis of 60 g l(-1) feather was added. In this case the poly(3-hydroxybutyrate) (PHB) yields were improved by more than about 50% as compared with control cultivation...
June 5, 2017: Letters in Applied Microbiology
https://www.readbyqxmd.com/read/28584419/a-comparative-study-to-correlate-between-clinically-and-radiographically-determined-sagittal-condylar-guidance-in-participants-with-different-skeletal-relationships
#16
Sweta Singh, Samiran Das, Jayanta Bhattacharyya, Soumitra Ghosh, Preeti Goel, Kaushik Dutta
CONTEXT: Many authors have conducted studies that determine horizontal condylar guidance (HCG) using various methods, articulator systems, and recording materials. However, there is a dearth of literature on variability existing in HCG in individuals with different skeletal relationships. This study is an attempt to verify whether such a difference exists or not. AIMS: The aim of this study is to determine and correlate the HCG in individuals with Angle's Class I, Class II, and Class III malocclusion using radiographic and clinical methods...
April 2017: Journal of Indian Prosthodontic Society
https://www.readbyqxmd.com/read/28573560/phyto-management-of-cr-contaminated-soils-by-sunflower-hybrids-physiological-and-biochemical-response-and-metal-extractability-under-cr-stress
#17
Mujahid Farid, Shafaqat Ali, Nudrat Aisha Akram, Muhammad Rizwan, Farhat Abbas, Syed Asad Hussain Bukhari, Rashid Saeed
Chromium (Cr) is a biologically non-essential, carcinogenic and toxic heavy metal. The cultivation of Cr-tolerant genotypes seems the most favorable and environment friendly strategy for rehabilitation and remediation of Cr-contaminated soils. To prove this hypothesis and identify the Cr tolerance, the present study was performed to assess the physiological and biochemical response of sunflower genotypes to Cr stress. The seeds of six sunflower hybrids, namely FH-425, FH-600, FH-612, FH-614, FH-619, and FH-620, were grown in spiked soil for 12 weeks under increasing concentrations of Cr (0, 5, 10, and 20 mg kg(-1))...
June 1, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28572805/factor-h-family-proteins-in-complement-evasion-of-microorganisms
#18
REVIEW
Mihály Józsi
Human-pathogenic microbes possess various means to avoid destruction by our immune system. These include interactions with the host complement system that may facilitate pathogen entry into cells and tissues, expression of molecules that defuse the effector complement components and complexes, and acquisition of host complement inhibitors to downregulate complement activity on the surface of the pathogen. A growing number of pathogenic microorganisms have acquired the ability to bind the complement inhibitor factor H (FH) from body fluids and thus hijack its host protecting function...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28569739/endoscopic-guided-measurement-of-mucosal-admittance-can-discriminate-gastroesophageal-reflux-disease-from-functional-heartburn
#19
Tomoaki Matsumura, Hideaki Ishigami, Mai Fujie, Takashi Taida, Shingo Kasamatsu, Kenichiro Okimoto, Keiko Saito, Daisuke Maruoka, Tomoo Nakagawa, Takeshi Suzuki, Tatsuro Katsuno, Makoto Arai
OBJECTIVES: A novel catheter that can measure mucosal admittance (MA), the inverse of impedance, was developed recently. In this pilot study, we aimed to clarify the usefulness of measuring MA for diagnosing gastroesophageal reflux disease (GERD). METHODS: We conducted two prospective studies. In the first study, esophageal MA was evaluated in 120 participants (24 with erosive esophagitis, 82 with heartburn but non-erosive esophagitis, and 14 healthy volunteers) and compared with the endoscopic findings...
June 1, 2017: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/28555288/-congenital-disorders-of-lipoprotein-metabolism
#20
W März, T B Grammer, G Delgado, M E Kleber
Congenital disorders of lipid metabolism are caused by a wide range of variants of the genes for receptors, apolipoproteins, enzymes, transfer factors, and cellular cholesterol transporters. Clinically most relevant are autosomal dominant familial hypercholesterolemia (FH) and familial combined hyperlipoproteinemia (FCHL). FH has a prevalence of 1:250. It is due to mutations of the low density lipoprotein (LDL) receptor, less often to mutations of the apolipoprotein B (APOB), the proprotein convertase subtilisin/kexin type 9 (PCSK9), or the signal transducing adapter family member 1 (STAP1)...
May 29, 2017: Herz
keyword
keyword
104237
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"