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Hypocholesterolemia

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https://www.readbyqxmd.com/read/27876360/the-role-of-high-density-lipoprotein-in-type-1-gaucher-disease
#1
Salmas Watad, Niroz Abu-Saleh, Awni Yousif, Abed Agbaria, Hanna Rosenbaum
Type I Gaucher Disease (GD1) is known to be associated with hypocholesterolemia and reduced levels of low density lipoprotein (LDL) and high density lipoprotein (HDL). In this study we aimed to correlate disease severity with HDL levels and to evaluate the effect of enzyme replacement therapy (ERT) on HDL levels as well as estimating the frequency of cardiovascular events in GD. Two groups of GD1 patients were evaluated: 30 untreated and 36 patients on ERT. Disease severity, biomarkers of GD and lipid levels were evaluated in the two groups...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27812518/associations-of-obesity-and-dyslipidemia-with-intake-of-sodium-fat-and-sugar-among-koreans-a-qualitative-systematic-review
#2
Yoon Jung Kang, Hye Won Wang, Se Young Cheon, Hwa Jung Lee, Kyung Mi Hwang, Hae Seong Yoon
A qualitative systematic review was performed to identify associations of obesity and dyslipidemia with intake of sodium, fat, and sugar among Koreans. We reviewed 6 Korean research databases (KMbase, KoreaMed, NDSL, DBpia, RISS, KISS) with the keywords "sodium intake," "fat intake," and "sugar intake." Total of 11 studies were investigated in this present study. Of these articles, 7 studies were related to sodium intake, 2 studies had a relation to fat intake, and 2 studies were associated with sugar intake...
October 2016: Clinical Nutrition Research
https://www.readbyqxmd.com/read/27614835/identification-of-a-haplotype-associated-with-cholesterol-deficiency-and-increased-juvenile-mortality-in-holstein-cattle
#3
S Kipp, D Segelke, S Schierenbeck, F Reinhardt, R Reents, C Wurmser, H Pausch, R Fries, G Thaller, J Tetens, J Pott, D Haas, B B Raddatz, M Hewicker-Trautwein, I Proios, M Schmicke, W Grünberg
Over the last decades, several genetic disorders have been discovered in cattle. However, the genetic background of disorders in calves is less reported. Recently, German cattle farmers reported on calves from specific matings with chronic diarrhea and retarded growth of unknown etiology. Affected calves did not respond to any medical treatment and died within the first months of life. These calves were underdeveloped in weight and showed progressive and severe emaciation despite of normal feed intake. Hallmark findings of the blood biochemical analysis were pronounced hypocholesterolemia and deficiency of fat-soluble vitamins...
September 7, 2016: Journal of Dairy Science
https://www.readbyqxmd.com/read/27520363/establishment-of-reference-values-of-%C3%AE-tocopherol-in-plasma-red-blood-cells-and-adipose-tissue-in-healthy-children-to-improve-the-management-of-chylomicron-retention-disease-a-rare-genetic-hypocholesterolemia
#4
Charlotte Cuerq, Lioara Restier, Jocelyne Drai, Emilie Blond, Adeline Roux, Sybil Charriere, Marie-Caroline Michalski, Mathilde Di Filippo, Emile Levy, Alain Lachaux, Noël Peretti
BACKGROUND: Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. In these patients, plasma vitamin E concentration is significantly reduced due to defects of chylomicron secretion. Vitamin E in adipose tissue (AT) and red blood cells (RBC) have been proposed as potential relevant biomarkers of vitamin E status but no reference values in children are available...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27496869/biology-of-proprotein-convertase-subtilisin-kexin-9-beyond-low-density-lipoprotein-cholesterol-lowering
#5
REVIEW
Giuseppe Danilo Norata, Hagai Tavori, Angela Pirillo, Sergio Fazio, Alberico L Catapano
Proprotein convertase subtilisin kexin 9 (PCSK9) is a key regulator of low-density lipoprotein receptor levels and LDL-cholesterol levels. Loss-of-function mutations in PCSK9 gene are associated with hypocholesterolaemia and protection against cardiovascular disease, identifying PCSK9 inhibition as a valid therapeutic approach to manage hypercholesterolaemia and related diseases. Although PCSK9 is expressed mainly in the liver, it is present also in other tissues and organs with specific functions, raising the question of whether a pharmacological inhibition of PCSK9 to treat hypercholesterolaemia and associated cardiovascular diseases might be helpful or deleterious in non-hepatic tissues...
October 2016: Cardiovascular Research
https://www.readbyqxmd.com/read/27429465/hypoadrenocorticism-mimicking-protein-losing-enteropathy-in-4-dogs
#6
Janne G Lyngby, Rance K Sellon
Four dogs referred for suspected protein-losing enteropathy based on clinical signs, severe hypoalbuminemia, and hypocholesterolemia, and in 2 dogs, abdominal effusion or peripheral edema, were diagnosed with hypoadrenocorticism. Dogs with hypoadrenocorticism may have features of protein-losing enteropathy, including ascites or peripheral edema, which have not been described in dogs with hypoadrenocorticism.
July 2016: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/27354333/featured-article-alterations-of-lecithin-cholesterol-acyltransferase-activity-and-apolipoprotein-a-i-functionality-in-human-sickle-blood
#7
Eric Soupene, Mark S Borja, Mauricio Borda, Sandra K Larkin, Frans A Kuypers
In sickle cell disease (SCD) cholesterol metabolism appears dysfunctional as evidenced by abnormal plasma cholesterol content in a subpopulation of SCD patients. Specific activity of the high density lipoprotein (HDL)-bound lecithin cholesterol acyltransferase (LCAT) enzyme, which catalyzes esterification of cholesterol, and generates lysoPC (LPC) was significantly lower in sickle plasma compared to normal. Inhibitory amounts of LPC were present in sickle plasma, and the red blood cell (RBC) lysophosphatidylcholine acyltransferase (LPCAT), essential for the removal of LPC, displayed a broad range of activity...
November 2016: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27340626/alteration-of-lipid-profile-in-patients-with-head-and-neck-malignancy
#8
Vijay Kumar Poorey, Pooja Thakur
Lipids are the major cell membrane components, essential for various biological functions including cell growth and division for the maintenance of cell integrity of normal and malignant tissues. The changes in lipid profile have been associated since long with cancer and hypocholesterolemia has been observed in patients with cancers of various organs. The objective of the present study is to evaluate the alterations and clinical significance of plasma lipid profiles in untreated head and neck malignancies...
June 2016: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/27291420/hyperlipidemia-and-hepatitis-in-liver-specific-creb3l3-knockout-mice-generated-using-a-one-step-crispr-cas9-system
#9
Yoshimi Nakagawa, Fusaka Oikawa, Seiya Mizuno, Hiroshi Ohno, Yuka Yagishita, Aoi Satoh, Yoshinori Osaki, Kenta Takei, Takuya Kikuchi, Song-Iee Han, Takashi Matsuzaka, Hitoshi Iwasaki, Kazuto Kobayashi, Shigeru Yatoh, Naoya Yahagi, Masaaki Isaka, Hiroaki Suzuki, Hirohito Sone, Satoru Takahashi, Nobuhiro Yamada, Hitoshi Shimano
cAMP responsive element binding protein 3-like 3 (CREB3L3), a transcription factor expressed in the liver and small intestine, governs fasting-response energy homeostasis. Tissue-specific CREB3L3 knockout mice have not been generated till date. To our knowledge, this is the first study using the one-step CRISPR/Cas9 system to generate CREB3L3 floxed mice and subsequently obtain liver- and small intestine-specific Creb3l3 knockout (LKO and IKO, respectively) mice. While LKO mice as well as global KO mice developed hypertriglyceridemia, LKO mice exhibited hypercholesterolemia in contrast to hypocholesterolemia in global KO mice...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27279263/clinicopathological-phenotype-of-autosomal-recessive-cholesterol-deficiency-in-holstein-cattle
#10
T Mock, K Mehinagic, F Menzi, E Studer, A Oevermann, M H Stoffel, C Drögemüller, M Meylan, N Regenscheit
BACKGROUND: Cholesterol deficiency (CD), a newly identified autosomal recessive genetic defect in Holstein cattle, is associated with clinical signs of diarrhea, failure to thrive, and hypocholesterolemia. HYPOTHESIS/OBJECTIVES: The objective is to describe the clinicopathological phenotype of affected Holstein cattle homozygous for the causative apolipoprotein B gene (APOB) mutation. ANIMALS: Six Holstein cattle, 5 calves with a clinical history of chronic diarrhea, and 1 heifer with erosions in the buccal cavity and neurologic symptoms were admitted to the Clinic for Ruminants...
July 2016: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/27206948/novel-apob-missense-variants-a224t-and-v925l-in-a-black-south-african-woman-with-marked-hypocholesterolemia
#11
Sharon A Miller, Amanda J Hooper, George A Mantiri, David Marais, Donald M Tanyanyiwa, James McKnight, John R Burnett
BACKGROUND: One genetic cause of markedly low plasma concentrations of apolipoprotein (apo) B and low density lipoprotein (LDL)-cholesterol is familial hypobetalipoproteinemia. OBJECTIVE: We aimed to determine the molecular basis for the marked hypocholesterolemia consistent with heterozygous familial hypobetalipoproteinemia in a black female subject of Xhosa lineage. METHODS: Coding regions of APOB, MTTP, PCSK9,ANGPTL3, SAR1B and APOC3 were sequenced, and APOE was genotyped...
May 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27161696/po-08-venous-thrombosis-and-cancer-about-an-algerian-series
#12
M Berrah-Bennaceur, A Berrah, M Arrada
INTRODUCTION: Venous thromboembolism (VTE) and cancer is an association with increasing progression and poor prognosis. It always raises many issues including the question what is the exact incidence of occult cancer in a VTE? Is there a simple biological marker with a predictive value of this combination? Can we define a strategy thromboprophylaxis in cancer patients? AIM: To try to answer these questions we conducted a prospective study. MATERIALS AND METHODS: We collected 140 patients with VTE, 70 of neoplastic origin ( group A) and 70 of other etiologies (Group B)...
April 2016: Thrombosis Research
https://www.readbyqxmd.com/read/27136033/rapid-communication-cholesterol-deficiency-associated-apob-mutation-impacts-lipid-metabolism-in-holstein-calves-and-breeding-bulls
#13
J J Gross, A-C Schwinn, F Schmitz-Hsu, F Menzi, C Drögemüller, C Albrecht, R M Bruckmaier
During the last months, the number of reports on Holstein calves suffering from incurable idiopathic diarrhea dramatically increased. Affected calves showed severe hypocholesterolemia and mostly died within days up to a few months after birth. This new autosomal monogenic recessive inherited fat metabolism disorder, termed cholesterol deficiency (CD), is caused by a loss of function mutation of the bovine gene. The objective of the present study was to investigate specific components of lipid metabolism in 6 homozygous for the mutation (CDS) and 6 normal Holstein calves with different genotypes...
April 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27013658/inactivation-of-tm6sf2-a-gene-defective-in-fatty-liver-disease-impairs-lipidation-but-not-secretion-of-very-low-density-lipoproteins
#14
Eriks Smagris, Shenise Gilyard, Soumik BasuRay, Jonathan C Cohen, Helen H Hobbs
A missense mutation (E167K) in TM6SF2 (transmembrane 6 superfamily member 2), a polytopic protein of unknown function, is associated with the full spectrum of fatty liver disease. To investigate the role of TM6SF2 in hepatic triglyceride (TG) metabolism, we inactivated the gene in mice. Chronic inactivation of Tm6sf2 in mice is associated with hepatic steatosis, hypocholesterolemia, and transaminitis, thus recapitulating the phenotype observed in humans. No dietary challenge was required to elicit the phenotype...
May 13, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26983896/transcriptional-profiling-of-breast-cancer-cells-in-response-to-mevinolin-evidence-of-cell-cycle-arrest-dna-degradation-and-apoptosis
#15
Ali M Mahmoud, Mourad A M Aboul-Soud, Junkyu Han, Yazeed A Al-Sheikh, Ahmed M Al-Abd, Hany A El-Shemy
The merging of high-throughput gene expression techniques, such as microarray, in the screening of natural products as anticancer agents, is considered the optimal solution for gaining a better understanding of the intervention mechanism. Red yeast rice (RYR), a Chinese dietary product, contains a mixture of hypocholesterolemia agents such as statins. Typically, statins have this effect via the inhibition of HMG‑CoA reductase, the key enzyme in the biosynthesis of cholesterol. Recently, statins have been shown to exhibit various beneficial antineoplastic properties through the disruption of tumor angiogenesis and metastatic processes...
May 2016: International Journal of Oncology
https://www.readbyqxmd.com/read/26938916/role-of-the-bahd1-chromatin-repressive-complex-in-placental-development-and-regulation-of-steroid-metabolism
#16
Goran Lakisic, Alice Lebreton, Renaud Pourpre, Olivia Wendling, Emanuele Libertini, Elizabeth J Radford, Morwenna Le Guillou, Marie-France Champy, Marie Wattenhofer-Donzé, Guillaume Soubigou, Slimane Ait-Si-Ali, Jean Feunteun, Tania Sorg, Jean-Yves Coppée, Anne C Ferguson-Smith, Pascale Cossart, Hélène Bierne
BAHD1 is a vertebrate protein that promotes heterochromatin formation and gene repression in association with several epigenetic regulators. However, its physiological roles remain unknown. Here, we demonstrate that ablation of the Bahd1 gene results in hypocholesterolemia, hypoglycemia and decreased body fat in mice. It also causes placental growth restriction with a drop of trophoblast glycogen cells, a reduction of fetal weight and a high neonatal mortality rate. By intersecting transcriptome data from murine Bahd1 knockout (KO) placentas at stages E16...
March 2016: PLoS Genetics
https://www.readbyqxmd.com/read/26937082/an-unusual-case-of-nephrotic-syndrome
#17
M Sahay, P S Vali, K Ismal, S Gowrishankar, M D Padua, M Swain
Nephrotic syndrome can be rarely due to inherited disorders of enzymes. One such variety is lecithin cholesterol acyltransferase deficiency. It leads to accumulation of unesterified cholesterol in the eye and other organs. We report a case of nephrotic syndrome with cloudy cornea and hypocholesterolemia with foam cells and lipid deposits on renal biopsy. Awareness about this rare disease may help in the early institution of specific measures to prevent progression to end-stage renal disease.
January 2016: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/26922723/discovering-peptide-inhibitors-of-human-squalene-synthase-through-screening-the-phage-displayed-cyclic-peptide-c7c-library
#18
David Shiuan, Yue-Hao Chen, Hwan-Kang Lin, Kao-Jean Huang, Da-Fu Tai, Ding-Kwo Chang
Many drugs for the treatment of hypercholesterolemia are targeting the enzymes involved in human cholesterol biosynthesis pathway. Squalene synthase, the rate-limiting enzyme located at the downstream of cholesterol synthesis pathway, has become a better candidate to develop next-generation hypocholesterolemia drugs. In the present study, we cloned and expressed the recombinant human squalene synthase (hSQS) as the lure to isolate potential peptide inhibitors from screening the conformation-constrained phage-displayed cyclic peptide c7c library...
June 2016: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/26899131/serum-lipid-profile-in-oral-squamous-cell-carcinoma-alterations-and-association-with-some-clinicopathological-parameters-and-tobacco-use
#19
S Acharya, P Rai, K Hallikeri, V Anehosur, J Kale
Hypocholesterolemia has been observed in patients with cancers of various organs; however the potential role of alterations in serum lipid profile in oral cancer remains controversial. Hence, this study aimed to evaluate the serum lipid profile in oral squamous cell carcinoma (OSCC) and its prognostic significance. Ninety untreated OSCC patients, who reported to the craniofacial unit for treatment between 2011 and 2014, were identified to obtain clinicopathological data and preoperative blood investigations including lipid profile...
June 2016: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/26806364/altered-cholesterol-metabolism-and-hypocholesterolemia-in-patients-with-single-ventricle-following-fontan-palliation
#20
COMPARATIVE STUDY
Wendy Whiteside, Meng Tan, Richard E Ostlund, Sunkyung Yu, Lina Ma, Albert Rocchini
OBJECTIVE: To assess whether an abnormality in cholesterol absorption or synthesis may be associated with hypocholesterolemia in patients with single ventricle anatomy following Fontan palliation. STUDY DESIGN: This is a cross-sectional study of 21 patients with hypocholesterolemia following Fontan procedure and age/sex-matched healthy controls, with median age of 13.4 (IQR 10.6-16.1) years. Laboratory values of several biomarkers, including phytosterols and 5-α-cholestanol (for cholesterol absorption) and lathosterol (for cholesterol biosynthesis), as well as cholesterol levels, inflammatory markers, and indices of liver function were compared between patients following Fontan procedure and controls...
April 2016: Journal of Pediatrics
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