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https://www.readbyqxmd.com/read/29138824/genetic-mutational-testing-of-chinese-children-with-familial-hematuria-with-biopsy%C3%A2-proven-fsgs
#1
Yongzhen Li, Ying Wang, Qingnan He, Xiqiang Dang, Yan Cao, Xiaochuan Wu, Shuanghong Mo, Xiaoxie He, Zhuwen Yi
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease, with a diverse etiology. FSGS may result from genetic and non‑genetic factors. FSGS is considered a podocyte disease due to the fact that in the majority of patients with proven‑FSGS, the lesion results from defects in the podocyte structure or function. However, FSGS does not result exclusively from podocyte‑associated genes, however also from other genes including collagen IV‑associated genes. Patients who carry the collagen type IVA3 chain (COL4A3) or COL4A4 mutations usually exhibit Alport Syndrome (AS), thin basement membrane neuropathy or familial hematuria (FH)...
November 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29136173/high-levels-of-gsk-3%C3%AE-signaling-reduce-osteogenic-differentiation-of-stem-cells-in-osteonecrosis-of-femoral-head
#2
Lu Huang, Ying Wang, Yangzi Jiang, Yan Wu, Changchang Hu, Hongwei Ouyang
Osteonecrosis of the femoral head (ONFH) is a common but intractable disease. In this study, we investigated the mechanisms regulating alterations in mesenchymal stem cell (MSC) differentiation in ONFH. Five patients who were diagnosed with ONFH were enrolled in this study. BMSCs were isolated from the osteonecrotic zone in the femoral head (FH-pMSCs) and from the normal zone in the pelvis (hMSCs) of the same patient. Morphology, cell proliferation, and expression of mediators of the Wnt signaling pathway were evaluated...
November 10, 2017: Journal of Biochemistry
https://www.readbyqxmd.com/read/29133167/patterns-of-lymph-node-sampling-and-the-impact-of-lymph-node-density-in-favorable-histology-wilms-tumor-an-analysis-of-the-national-cancer-database
#3
A F Saltzman, A Carrasco, A Amini, J H Aldrink, R Dasgupta, K W Gow, R D Glick, P F Ehrlich, N G Cost
INTRODUCTION: There is controversy about the role of lymph node (LN) sampling or dissection in the management of favorable histology (FH) Wilms tumor (WT), specifically how it performed and how it may impact survival. OBJECTIVE: The objective of this study was to analyze factors affecting LN sampling patterns and the impact of LN yield and density (number of positive LNs/LNs examined) on overall survival (OS) in patients with advanced-stage favorable histology Wilms tumor (FHWT)...
October 31, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29131663/factors-associated-with-long-term-vertical-skeletal-changes-induced-by-facemask-therapy-in-patients-with-class-iii-malocclusion
#4
Hee-Jong Kwak, Hae-Jin Park, Yoon-Ji Kim, Dong-Yul Lee
OBJECTIVES: This study investigated the long-term vertical skeletal changes induced by facemask therapy in patients with Class III malocclusion and different vertical skeletal patterns. MATERIALS AND METHODS: A total of 54 patients (20 boys and 34 girls; mean age, 7.7 ± 2.0 years) with Class III malocclusion who were successfully treated with facemask therapy were included in this study. Vertical skeletal changes (overbite depth indicator, angle between the Sella-Nasion (SN) plane and Gonion-Gnathion (GoGn) line, angle between the Frankfort horizontal (FH) plane and mandibular plane, gonial angle, and angle between the SN plane and palatal plane) were measured on lateral cephalograms from before treatment (T0) to after facemask therapy (T1) and from T0 to after retention (T2)...
November 13, 2017: Angle Orthodontist
https://www.readbyqxmd.com/read/29130076/crispr-correction-of-a-homozygous-low-density-lipoprotein-receptor-mutation-in-familial-hypercholesterolemia-induced-pluripotent-stem-cells
#5
Linda Omer, Elizabeth A Hudson, Shirong Zheng, James B Hoying, Yuan Shan, Nolan L Boyd
Familial hypercholesterolemia (FH) is a hereditary disease primarily due to mutations in the low-density lipoprotein receptor (LDLR) that lead to elevated cholesterol and premature development of cardiovascular disease. Homozygous FH patients (HoFH) with two dysfunctional LDLR alleles are not as successfully treated with standard hypercholesterol therapies, and more aggressive therapeutic approaches to control cholesterol levels must be considered. Liver transplant can resolve HoFH, and hepatocyte transplantation has shown promising results in animals and humans...
November 2017: Hepatol Commun
https://www.readbyqxmd.com/read/29129821/association-between-lipoprotein-a-and-proprotein-convertase-substilisin-kexin-type-9-in-patients-with-heterozygous-familial-hypercholesterolemia-a-case-control-study
#6
Di Sun, Sha Li, Xi Zhao, Na-Qiong Wu, Cheng-Gang Zhu, Yuan-Lin Guo, Ying Gao, Ping Qing, Chuan-Jue Cui, Geng Liu, Jing Sun, Qian Dong, Jian-Jun Li
BACKGROUND: Recent data have suggested an important role of lipoprotein (a) [Lp(a)] and proprotein convertase substilisin/kexin type 9 (PCSK9) in the development of atherosclerotic cardiovascular disease (ASCVD) in both general population and family hypercholesterolemia (FH), while the relation of Lp(a) to PCSK9 has not been examined. OBJECTIVE: The aim of the present study was to investigate the association between plasma PCSK9 and Lp(a)in patients with heterozygous FH (HeFH)...
November 9, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29129455/plasma-palmitoyl-carnitine-ac16-0-is-a-marker-of-increased-postprandial-nonesterified-incomplete-fatty-acid-oxidation-rate-in-individuals-with-type-2-diabetes
#7
Fatima-Zahra Bouchouirab, Mélanie Fortin, Christophe Noll, Jean Dubé, André C Carpentier
OBJECTIVES: Enhanced mitochondrial fatty acid utilization is known to increase radical oxidative stress and induce insulin resistance. An increased level of plasma acylcarnitine (AC) has been proposed to indicate mitochondrial energy substrate overload, a possible mechanism leading to insulin resistance. The aim of our study was to determine fasting and postprandial plasma acetyl-carnitine (AC2:0), palmitoyl-carnitine (AC16:0), oleoyl-carnitine (AC18:1) and linoleoyl-carnitine (AC18:2) levels and their relationships with plasma nonesterified fatty acid appearance and oxidation rates and insulin sensitivity in participants with type 2 diabetes and normoglycemic offspring of 2 parents with type 2 diabetes (FH+) compared to healthy participants without family histories of type 2 diabetes (FH-)...
November 9, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/29127338/identification-and-in-vitro-characterization-of-two-new-pcsk9-gain-of-function-variants-found-in-patients-with-familial-hypercholesterolemia
#8
Maria Donata Di Taranto, Asier Benito-Vicente, Carola Giacobbe, Kepa Belloso Uribe, Paolo Rubba, Aitor Etxebarria, Ornella Guardamagna, Marco Gentile, Cesar Martín, Giuliana Fortunato
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among PCSK9 variants, only Gain-of- Function (GOF) variants lead to FH. Greater attention should be paid to the classification of variants as pathogenic. Two hundred sixty nine patients with a clinical suspect of FH were screened for variants in LDLR and the patients without pathogenic variants were screened for variants in PCSK9 and APOB...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29126458/epidemiology-of-hypertension-in-fulani-indigenous-populations-age-gender-and-drivers
#9
Clement Kufe Nyuyki, George Ngufor, George Mbeh, Jean Claude Mbanya
BACKGROUND: Hypertension is a public health problem and the main contributor to cardiovascular mortality and morbidity. Little is known about hypertension among the minority, diverse and socially disadvantaged 23-24 million Fulani/Peul populations dispersed in West, Central and East Africa, undergoing a transition from traditional to transitional and modern lifestyle. This study describes age and gender variations in blood pressure and drivers of hypertension among rural Fulani population of Cameroon...
November 10, 2017: Journal of Health, Population, and Nutrition
https://www.readbyqxmd.com/read/29124354/parathyroid-thyroid-and-recurrent-laryngeal-nerve-anatomy-in-an-indian-rhinoceros-rhinoceros-unicornis
#10
R Udelsman, S B Citino, M Prasad, P I Donovan, D V Fredholm
INTRODUCTION: The parathyroid gland was first identified in the Indian rhinoceros in 1849 by Sir Richard Owen. We performed a necropsy in an Indian rhinoceros, recapitulating Owen's dissection and display what appear to be the initial identification of the recurrent laryngeal nerve in situ and the anatomy and histology of the largest rhinoceros parathyroid glands yet identified. MATERIALS AND METHODS: Patrick T. Rhino, a 41-year-old Indian rhinoceros was born in 1974...
November 9, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29114919/circulating-progenitor-cells-in-patients-with-familial-hypercholesterolemia
#11
P B Sandesara, V Ramjee, N Ghasemzadeh, Y Guo, N Bhatia, Q Li, L Vaughn, C Nell-Dybdahl, E K Waller, E A Mahar, K Brigham, P W F Wilson, A Quyyumi, N-A Le, L S Sperling
OBJECTIVE: Familial hypercholesterolemia (FH) is a genetic disease with very high levels of circulating low density lipoprotein cholesterol (LDL-C) levels that leads to accelerated atherosclerosis. Lipoprotein apheresis is an effective treatment option for patients with FH and results in reduced cardiovascular morbidity and mortality. Circulating progenitor cells (CPCs) are markers of overall vascular health and diminished levels have been associated with decreased reparative potential and worse outcomes...
November 8, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29110694/effects-of-freezer-storage-time-on-levels-of-complement-biomarkers
#12
Angharad R Morgan, Caroline O'Hagan, Samuel Touchard, Simon Lovestone, B Paul Morgan
BACKGROUND: There is uncertainty regarding how stable complement analytes are during long-term storage at - 80 °C. As part of our work program we have measured 17 complement biomarkers (C1q, C1 inhibitor, C3, C3a, iC3b, C4, C5, C9, FB, FD, FH, FI, TCC, Bb, sCR1, sCR2, Clusterin) and the benchmark inflammatory marker C-reactive protein (CRP) in a large set of plasma samples (n = 720) that had been collected, processed and subsequently stored at - 80 °C over a period of 6.6-10.6 years, prior to laboratory analysis...
November 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29110233/preparation-and-application-of-unhairing-enzyme-using-solid-wastes-from-the-leather-industry-an-attempt-toward-internalization-of-solid-wastes-within-the-leather-industry
#13
Renganath Rao Ramesh, Vimudha Muralidharan, Saravanan Palanivel
Usage of the animal fleshing waste as the source of carbon and nitrogen for animal skin unhairing protease (EC 3.4.21) production along with agro-industrial wastes like wheat bran has been investigated. Thermal hydrolysis of delimed fleshing waste for 3 h yielded a fleshing hydrolysate (FH) having a protein content of 20.86 mg/mL and total solids of 46,600 ppm. The FH was lyophilized and spray dried to obtain fleshing hydrolysate powder (FHP) to be used along with wheat bran and rice bran for protease production...
November 6, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29107202/defining-the-phenotype-of-young-adults-with-family-histories-of-alcohol-and-other-substance-use-disorders-studies-from-the-family-health-patterns-project
#14
Ashley Acheson, Andrea S Vincent, Andrew J Cohoon, William R Lovallo
Individuals with a family history of alcohol and other drug use disorders (FH+) are at increased risk for developing substance use disorders themselves relative to those with no such histories (FH-). Here we sought to identify key characteristics associated with FH+ status and alcohol and other drug use disorder status in a large cohort of FH+ and FH- young adults. We conducted principal component analyses on demographic, temperament, and cognitive measures differentiating 506 FH+ and 528 FH- young adults. Three principal components were identified, and these component scores were then used to predict the odds of being FH+ and the odds of having an alcohol or other drug use disorder...
October 20, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/29106543/survival-in-homozygous-familial-hypercholesterolaemia-is-determined-by-the-on-treatment-level-of-serum-cholesterol
#15
Gilbert R Thompson, Dirk J Blom, A David Marais, Mary Seed, Gillian J Pilcher, Frederick J Raal
Aims: Homozygous familial hypercholesterolaemia (FH) is a rare inherited disorder characterized by extreme hypercholesterolaemia from birth, accelerated atherosclerosis, and premature death. Many forms of lipid-lowering therapies have been used in the past, but definitive evidence of benefit has been lacking. We therefore undertook a retrospective survey of lipid levels and clinical outcomes of FH homozygotes treated with a combination of lipid-lowering measures between 1990 and 2014 in South Africa and the UK...
July 1, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29105114/cortical-thickness-in-adolescents-with-a-family-history-of-alcohol-use-disorder
#16
Kate E Henderson, Jatin G Vaidya, John R Kramer, Samuel Kuperman, Douglas R Langbehn, Daniel S O'Leary
BACKGROUND: Individuals with a family history (FH+) of alcohol use disorder (AUD) have a higher risk for developing an AUD than those with no family history (FH-) of AUD. In addition, FH+ individuals tend to perform worse on neuropsychological measures and show heightened impulsivity, which may be due to underlying differences in brain structure such as cortical thickness. The primary aim of this study was to investigate differences in cortical thickness in FH+ compared to FH- adolescents...
November 3, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29102496/plasma-inducible-degrader-of-the-ldlr-soluble-low-density-lipoprotein-receptor-and-proprotein-convertase-subtilisin-kexin-type-9-levels-as-potential-biomarkers-of-familial-hypercholesterolemia-in-children
#17
Josefa Girona, Cèlia Rodríguez-Borjabad, Daiana Ibarretxe, Mercedes Heras, Nuria Amigo, Albert Feliu, Luis Masana, Nuria Plana
BACKGROUND: Familial hypercholesterolemia (FH) in children is under-detected. Plasma biomarkers associated with low-density lipoprotein receptor (LDLR) function could help identifying FH children. OBJECTIVES: We aim to assess the clinical value of inducible degrader of the LDLR (IDOL), soluble LDLR (sLDLR), and proprotein convertase subtilisin/kexin type 9 (PCSK9) plasma concentrations in children with FH compared with control children (CCh). METHODS: This was a cross-sectional study performed in a Lipid Unit from a University hospital...
October 12, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29096865/cascade-screening-for-familial-hypercholesterolemia-practical-consequences
#18
Leonora Louter, Joep Defesche, Jeanine Roeters van Lennep
Familial Hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the LDLR gene, resulting in elevated serum cholesterol levels and elevated risk of premature cardiovascular disease (CVD). Timely treatment with lipid lowering medication can lower the risk of CVD to the same level of the normal population. Currently the incidence of FH is estimated at 1 in 240 persons in the Caucasian population. A diagnosis of FH can be made on the basis of clinical criteria (including LDL cholesterol and family history) or DNA testing...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29096864/care-high-cascade-screening-and-registry-for-high-cholesterol-in-germany
#19
Nina Schmidt, Tanja Grammer, Ioanna Gouni-Berthold, Ulrich Julius, Ursula Kassner, Gerald Klose, Christel König, Ulrich Laufs, Britta Otte, Elisabeth Steinhagen-Thiessen, Christoph Wanner, Winfried März
INTRODUCTION: Familial hypercholesterolemia (FH) is an inherited disorder of the LDL metabolism, leading to cardiovascular disease, even at young age. This risk can be significantly lowered by early diagnosis and treatment. About 270,000 patients affected in Germany are not diagnosed correctly and only a small number is treated properly. To improve FH diagnosis in the general population a cascade screening and registry data is warranted, yet missing in Germany. This project aims to fill this gap...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29096862/analysis-of-lipid-metabolism-and-its-impact-on-the-risk-of-ischemic-heart-disease-in-patients-with-definite-familial-hypercholesterolemia
#20
Viktoria Korneva, Tatiana Kuznetsova, Ulrich Julius
AIM: to analyze the relationship between lipid disturbance, including lipoprotein(a) (Lp(a)) levels, and development of ischemic heart disease (IHD) in patients with familial hypercholesterolemia (FH). MATERIALS AND METHODS: 81 patients (middle age was 39.1 ± 0.4 years, 33 males, 48 females) with a definite FH were examined. The concentration of Lp(a) was determined by immunoturbidimetric method. Lipid profiles were estimated by enzymatic colorimetric method...
November 2017: Atherosclerosis. Supplements
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