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Eungu Kang, Yoon-Myung Kim, Minji Kang, Sun-Hee Heo, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo, Beom Hee Lee
BACKGROUND: Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identification of FAODs became feasible. This study describes the clinical, biochemical and molecular characteristics of FAODs patients detected by newborn screening (NBS) compared with those of 9 patients with symptomatic presentations. METHODS: Clinical and genetic features of FAODs patients diagnosed by NBS and by symptomatic presentations were reviewed...
March 8, 2018: BMC Pediatrics
Li Zhang, Guangxian Nan, Ying Mao, Lumei Chi
RATIONALE: Intracranial arterial dissection is a rare cause of ischemic stroke, and isolated middle cerebral artery dissection (MCAD) is extremely rare, having been described only in sparse case reports. The etiology, clinicoradiological features, and treatment strategies are not yet well understood. PATIENT CONCERNS: A 49-year-old man presented with rapidly progressive aphasia and motor disturbance of the right limbs. DIAGNOSES: Neuroimaging evaluation confirmed a diagnosis of MCAD and cerebral infarction...
January 2018: Medicine (Baltimore)
Bianca C Bernardo, Kate L Weeks, Thawin Pongsukwechkul, Xiaoming Gao, Helen Kiriazis, Nelly Cemerlang, Esther Jh Boey, Yow Keat Tham, Chad J Johnson, Hongwei Qian, Xiao-Jun Du, Paul Gregorevic, Julie R McMullen
We previously showed that medium chain acyl-coenzyme A dehydrogenase (MCAD, key regulator of fatty acid oxidation) is positively modulated in the heart by the cardioprotective kinase, phosphoinositide 3-kinase [PI3K(p110α)]. Disturbances in cardiac metabolism are a feature of heart failure patients, and targeting metabolic defects is considered a potential therapeutic approach. The specific role of MCAD in the adult heart is unknown. To examine the role of MCAD in the heart and to assess the therapeutic potential of increasing MCAD in the failing heart, we developed a gene therapy tool using recombinant adeno-associated viral vectors (rAAV) encoding MCAD...
January 22, 2018: Clinical Science (1979-)
Tadahiro Shimazu, Tamio Furuse, Shabeesh Balan, Ikuko Yamada, Shuzo Okuno, Hiroko Iwanari, Takehiro Suzuki, Takao Hamakubo, Naoshi Dohmae, Takeo Yoshikawa, Shigeharu Wakana, Yoichi Shinkai
METTL20 is a seven-β-strand methyltransferase that is localised to the mitochondria and tri-methylates the electron transfer flavoprotein (ETF) β subunit (ETFB) at lysines 200 and 203. It has been shown that METTL20 decreases the ability of ETF to extract electrons from medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) and glutaryl-CoA dehydrogenase in vitro. METTL20-mediated methylation of ETFB influences the oxygen consumption rate in permeabilised mitochondria, suggesting that METTL20-mediated ETFB methylation may also play a regulatory role in mitochondrial metabolism...
January 19, 2018: Scientific Reports
Andraz Smon, Urh Groselj, Marusa Debeljak, Mojca Zerjav Tansek, Sara Bertok, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Tadej Battelino, Barbka Repic Lampret
Objective The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected the first two patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the country. Two novel ACADM mutations are also described. Methods Both patients were diagnosed clinically; follow-up involved analysis of organic acids in urine, acylcarnitines in dried blood spots, and genetic analysis of ACADM. Cut-off values of acylcarnitines in newborns were established using analysis of 10,000 newborns in a pilot screening study...
January 1, 2018: Journal of International Medical Research
Sze Chern Lim, Makiko Tajika, Masaru Shimura, Kirstyn T Carey, David A Stroud, Kei Murayama, Akira Ohtake, Matthew McKenzie
Medium-chain acyl-Coenzyme A dehydrogenase (MCAD) is involved in the initial step of mitochondrial fatty acid β-oxidation (FAO). Loss of function results in MCAD deficiency, a disorder that usually presents in childhood with hypoketotic hypoglycemia, vomiting and lethargy. While the disruption of mitochondrial fatty acid metabolism is the primary metabolic defect, secondary defects in mitochondrial oxidative phosphorylation (OXPHOS) may also contribute to disease pathogenesis. Therefore, we examined OXPHOS activity and stability in MCAD-deficient patient fibroblasts that have no detectable MCAD protein...
January 9, 2018: Scientific Reports
Marc-Alexander Ohlow, Ahmed Farah, Thomas Kuntze, Bernward Lauer
BACKGROUND: The decision for coronary artery bypass grafting (CABG) or percutaneous coronary intervention (PCI) in patients with multi-vessel coronary artery disease (mCAD) is currently made by a heart-team approach. Patients' preference is less well investigated. METHODS: All consecutive patients with prior CABG and at least 2 PCI procedures were interviewed whether they would elect bypass surgery or staged PCI in case of a hypothetical scenario in which they had mCAD and CABG or PCI will equally improve symptoms and survival...
January 9, 2018: International Journal of Clinical Practice
Bin Tang, Jin-Guo Zhang, Hong-Yong Tan, Xi-Qing Wei
Chronic heart failure (CHF) is the end-stage of many cardiovascular diseases and severely affects the patients' lifespan. Inhibiting ventricular remodeling is thus a primary treatment target for CHF patients. Astragaloside IV (AS-IV) can improve cardiac function and protect myocardial cells. The study aims to investigate the effects of AS-IV on ventricular remodeling and explore its role in regulating energy metabolism using a rat CHF model. Sprague Dawley rats were divided into 5 groups (N=20 per group):  CHF + benazepril hydrochloride, CHF + low-dose (30 mg...
January 4, 2018: Bioscience Reports
Beth K Potter, Brian Hutton, Tammy J Clifford, Nicole Pallone, Maureen Smith, Sylvia Stockler, Pranesh Chakraborty, Pauline Barbeau, Chantelle M Garritty, Michael Pugliese, Alvi Rahman, Becky Skidmore, Laure Tessier, Kylie Tingley, Doug Coyle, Cheryl R Greenberg, Lawrence Korngut, Alex MacKenzie, John J Mitchell, Stuart Nicholls, Martin Offringa, Andreas Schulze, Monica Taljaard
BACKGROUND: Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which are in part due to challenges in conducting randomized controlled trials (RCTs) for rare diseases. Registry-based RCTs present a unique opportunity to address these challenges provided the registries implement standardized collection of outcomes that are important to patients and their caregivers and to clinical providers and healthcare systems...
December 19, 2017: Trials
Xianxin Yan, Guijuan Zhang, Fengjie Bie, Yanhong Lv, Yi Ma, Min Ma, Yurong Wang, Xiaoqian Hao, Naijun Yuan, Xuefeng Jiang
Alteration in cellular energy metabolism plays a critical role in the development and progression of cancer. Targeting metabolic pathways for cancer treatment has been investigated as potential preventive or therapeutic methods. Eugenol (Eu), a major volatile constituent of clove essential oil mainly obtained from Syzygium, has been reported as a potential chemopreventive drug. However, the mechanism by which Eu regulates cellular energy metabolism is still not well defined. This study was designed to determine the effect of Eu on cellular energy metabolism during early cancer progression employing untransformed and H-ras oncogene transfected MCF10A human breast epithelial cells...
October 10, 2017: Scientific Reports
Zhiyuan Niu, Qian Shi, Wenlong Zhang, Yuxin Shu, Nanfei Yang, Bing Chen, Qingsong Wang, Xuyang Zhao, Jiajia Chen, Nan Cheng, Xiujing Feng, Zichun Hua, Jianguo Ji, Pingping Shen
Tumor-associated macrophages are increasingly viewed as a target of great relevance in the tumor microenvironment, because of their important role in cancer progression and metastasis. However, the endogenous regulatory mechanisms underlying tumor-associated macrophage differentiation remain largely unknown. Here, we report that caspase-1 promotes tumor-associated macrophage differentiation by cleaving peroxisome proliferator-activated receptor gamma (PPARγ) at Asp64, thus generating a 41 kDa fragment. This truncated PPARγ translocates to mitochondria, where it directly interacts with medium-chain acyl-CoA dehydrogenase (MCAD)...
October 3, 2017: Nature Communications
Yuping Wang, Partha Mukhopadhyay, Zongxian Cao, Hua Wang, Dechun Feng, György Haskó, Raphael Mechoulam, Bin Gao, Pal Pacher
Cannabidiol (CBD) is a non-psychoactive component of marijuana, which has anti-inflammatory effects. It has also been approved by FDA for various orphan diseases for exploratory trials. Herein, we investigated the effects of CBD on liver injury induced by chronic plus binge alcohol feeding in mice. CBD or vehicle was administered daily throughout the alcohol feeding study. At the conclusion of the feeding protocol, serums samples, livers or isolated neutrophils were utilized for molecular biology, biochemistry and pathology analysis...
September 21, 2017: Scientific Reports
Stefan Wirz, Gerhard J Molderings
Systemic mast cell activation disease (MCAD, a subclass of mastocytosis), which has a prevalence of around 17% (at least in the German population), is characterized by accumulation of genetically altered dysfunctional mast cells with abnormal release of these cells' mediators. Since mast cells affect functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing, this disease has to be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity of a generally inflammatory and allergic theme...
September 2017: Pain Physician
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Rita Christopher, Narayanappa Gayathri, Archana Natarajan, Mahadevappa Manjunath, Saraswati Nashi, Chandrajit Prasad, Atchayaram Nalini
Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here...
November 2017: Neuromuscular Disorders: NMD
Fanqi Yi, Junping Zheng, Qiongyu Li, Siming Jiao, Yuguang Du, Yun Ye, Hongtao Liu
The inhibitory effect of NACOS on dyslipidemia and potential molecular mechanisms by in vitro and in vivo experiments were investigated. For in vitro study, four experimental groups were designed by using HepG2 cells, including the control group, palmitic acid (PA) treatment alone group, NACOS treatment alone group and NACOS + PA treatment group. For in vivo study, male C57BL/6 mice were divided into four groups (n=5) at random including the normal control group (NCD), high fat diet (HFD) group, NACOS treatment alone group, NACOS+HFD group, which were treated for 20 weeks...
April 25, 2017: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
Qi Zhao, Rui Yang, Jing Wang, Dan-Dan Hu, Fei Li
Intrahepatic cholestasis induced by drug toxicity, bile salt export pump (BSEP) deficiency, or pregnancy frequently causes cholestatic liver damage, which ultimately may lead to liver fibrosis and cirrhosis. Here, the preventive and therapeutic effects of peroxisome proliferator-activated receptor α (PPARα) signaling activated by fenofibrate was evaluated on cholestatic liver damage. Metabolomic analysis revealed that alpha-naphthyl isothiocyanate (ANIT)-induced intrahepatic cholestasis resulted in the accumulation of serum long-chain acylcarnitines and triglyceride, and the reduced expression of four fatty acid β-oxidation (β-FAO) relevant genes (Cpt1b, Cpt2, Mcad and Hadha), indicating the disruption of β-FAO...
August 30, 2017: Scientific Reports
Lorenzo Figà Talamanca, Luca Pasquini, Antonio Napolitano, Daniela Longo
BACKGROUND: Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is the most common genetic disorder of fatty acid oxidation, which presents before the age of 2 with the onset of acute hypoketotic hypoglycemia, and is typically precipitated by stress. CASE PRESENTATION: We report serial brain magnetic resonance imaging (MRI) changes, including MR spectroscopy (MRS) and diffusion weighted imaging (DWI), in a patient with a classical MCAD presentation, compared with five healthy controls...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
Olivier Le Bacquer, Kristell Combe, Christophe Montaurier, Jérôme Salles, Christophe Giraudet, Véronique Patrac, Carla Domingues-Faria, Christelle Guillet, Katie Louche, Yves Boirie, Nahum Sonenberg, Cédric Moro, Stéphane Walrand
SCOPE: In recent years, several studies reported the role of eIF4E-binding proteins (4E-BPs) on the development of diet-induced obesity and insulin resistance. Our aim was to investigate the effect of 4E-BP protein deletion on lipid accumulation and metabolism in skeletal muscle in response to a high-fat diet induced obesity in 4E-BP1/2 DKO mice. METHODS AND RESULTS: Diet-induced obesity engendered increased ectopic accumulation of lipotoxic species in skeletal muscle of 4E-BP1 and 4E-BP2 double knockout mice (4E-BP1/2 DKO), namely diacylglycerols and ceramides...
May 21, 2017: Molecular Nutrition & Food Research
Su-Youn Cho, Wi-Young So, Hee-Tae Roh
Although regular Taekwondo (TKD) training has been reported to be effective for improving cognitive function in children, the mechanism underlying this improvement remains unclear. The purpose of the present study was to observe changes in neuroplasticity-related growth factors in the blood, assess cerebral blood flow velocity, and verify the resulting changes in children's cognitive function after TKD training. Thirty healthy elementary school students were randomly assigned to control (n = 15) and TKD (n = 15) groups...
April 25, 2017: International Journal of Environmental Research and Public Health
Baolei Guo, Kai Hou, Daqiao Guo, Xin Xu, Zhenyu Shi, Yan Shan, Peng Lv, Weiguo Fu
OBJECTIVE: Clinical outcomes after thoracic endovascular aortic repair (TEVAR) for patients with multichanneled aortic dissection (MCAD) are poorly understood but seem substantially different from those for patients with double-channeled aortic dissection (AD). This study compared the anatomic and clinical factors for patients with MCAD who underwent TEVAR with or without full true lumen (TL) collapse. METHODS: From January 2012 to March 2016, 54 of 644 consecutive type B AD patients (8...
October 2017: Journal of Vascular Surgery
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