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Creatine disorders

Kenji Yamada, Hideaki Shiraishi, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Kota Ono, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato
Introduction: Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty acid oxidation (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on the in vitro FAO capacity has been reported, the in vivo efficacy remains controversial. Therefore, we conducted a clinical trial of bezafibrate in Japanese patients with FAODs. Materials and methods: This trial was an open-label, non-randomized, and multicenter study of bezafibrate treatment in 6 patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and 2 patients with carnitine palmitoyltransferase-II (CPT-2) deficiency (median age, 8...
June 2018: Molecular Genetics and Metabolism Reports
Chi-Hyeon Yoo, Song-I Lim, Kyu-Ho Song, Dong-Cheol Woo, Bo-Young Choe
Although recent investigations of major depressive disorder (MDD) have focused on the monoaminergic system, accumulating evidences suggest that alternative pathophysiological models of MDD and treatment options for patients with MDD are needed. Animals subjected to chronic forced swim stress (CFSS) develop behavioral despair. The purpose of this study was to investigate the in vivo effects of CFSS on systems other than the monoamine system in the rat prefrontal cortex (PFC) with 7T and short-echo-time (16.3 ms) proton magnetic resonance spectroscopy (1 H MRS)...
March 9, 2018: Neurochemistry International
Eman A Alraddadi, Ryan Lillico, Jonathan L Vennerstrom, Ted M Lakowski, Donald W Miller
Creatine is an ergogenic compound used by athletes to enhance performance. Supplementation with creatine monohydrate (CM) has been suggested for musculoskeletal and neurological disorders. Until now, little is known about its pharmacokinetic profile. Our objective was to determine the oral bioavailability of CM and the influence of dose on oral absorption. Rats were dosed orally with low dose (10 mg/kg) or high dose (70 mg/kg)13 C-labeled CM. Blood samples were removed at various time points. Muscle and brain tissue were collected at the conclusion of the study...
March 8, 2018: Pharmaceutics
Brent M Kious, Douglas G Kondo, Perry F Renshaw
After participating in this activity, learners should be better able to:• Assess epidemiologic evidence that increased altitude of residence is linked to increased risk of depression and suicide• Evaluate strategies to address hypoxia-related depression and suicidal ideation ABSTRACT: Suicide and major depressive disorder (MDD) are complex conditions that almost certainly arise from the influences of many interrelated factors. There are significant regional variations in the rates of MDD and suicide in the United States, suggesting that sociodemographic and environmental conditions contribute...
March 2018: Harvard Review of Psychiatry
Toshiaki Isogai, Tsutomu Yoshikawa, Tetsuro Ueda, Tetsuo Yamaguchi, Yoichi Imori, Yuichiro Maekawa, Konomi Sakata, Tsutomu Murakami, Hiroki Mochizuki, Kenshiro Arao, Akihisa Kimura, Ken Nagao, Takeshi Yamamoto, Morimasa Takayama
BACKGROUND: Although the typical apical form of Takotsubo syndrome and anterior acute myocardial infarction have similar electrocardiographic and echocardiographic presentations, data on the clinical differences between the two disorders are limited. METHODS: Using the Tokyo Cardiovascular Care Unit network registry, we identified patients hospitalised with apical Takotsubo syndrome ( n=540; 2010-2014) or anterior acute myocardial infarction ( n=2,806; 2013-2014) and created 522 age and sex-matched pairs (mean age 74...
March 1, 2018: European Heart Journal. Acute Cardiovascular Care
Yannay Khaikin, Sarah Sidky, Jose Abdenur, Arnaud Anastasi, Diana Ballhausen, Sabrina Buoni, Alicia Chan, David Cheillan, Nathalie Dorison, Alice Goldenberg, Jennifer Goldstein, Floris C Hofstede, Marie-Line Jacquemont, Dwight D Koeberl, Laurence Lion-Francois, Allan Meldgaard Lund, Karine Mention, Helen Mundy, Declan O'Rourke, Gaele Pitelet, Miquel Raspall-Chaure, Maria Tassini, Thierry Billette de Villemeur, Monique Williams, Gajja S Salomons, Saadet Mercimek-Andrews
PURPOSE: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment consists of creatine, ornithine and arginine-restricted diet. We initiated an international treatment registry using Research Electronic Data Capture (REDCap) software to evaluate treatment outcome. METHODS: Physicians completed an online REDCap questionnaire...
February 16, 2018: European Journal of Paediatric Neurology: EJPN
Evgenia Sklirou, Uta Lichter-Konecki
Phenylketonuria is a defect in phenylalanine metabolism resulting in the excretion of phenylketones and severe intellectual disability. The principle of eliminating the offending amino acid from the diet as a successful treatment strategy was demonstrated. The development of a low methionine diet to treat homocystinuria was established after identifying the transsulfuration pathway resulting in cysteine synthesis. Both conditions are examples of disorders of amino acid metabolism. Lesch-Nyhan syndrome, a rare disorder of purine metabolism resulting in intellectual disability and self-injurious behavior, is a classical inborn error of metabolism...
April 2018: Pediatric Clinics of North America
Chi-Hyeon Yoo, Kyu-Ho Song, Song-I Lim, Dong-Cheol Woo, Bo-Young Choe
Recent evidence suggests that the glutamate system plays an important role in the pathogenesis of major depressive disorder (MDD). The aim of this study was to investigate the effects of light deprivation (LD) in the prefrontal cortex (PFC) of animals with depression-like behavior, targeting the glutamate system, using in vivo proton magnetic resonance spectroscopy (1 H MRS). Male Sprague-Dawley rats were housed in constant darkness for six weeks (n = 12; LD group), while controls (n = 8) were housed under normal light cycles...
March 1, 2018: Brain Research
Ling Li, Haisong Yang, Jian Li, Yunli Yu, Fan Wang, Xianghui Zhu, Guicheng Liu
RATIONALE: Idiopathic hypoparathyroidism (IHP) is a rare endocrine condition, which is frequently represented by neuropsychiatric disorders. Hence, the misdiagnosis rate of the disease is rather high, especially for neurologists. PATIENT CONCERNS: We reported a case of misdiagnosed, atypical IHP. In addition, the literature on IHP and the misdiagnosis published in China in the past 2 decades has been reviewed and summarized. DIAGNOSES: Blood testing confirmed that parathyroid hormone (PTH) = 0 pg/mL and the final diagnosis was IHP...
March 2018: Medicine (Baltimore)
Ajai Kumar Singh, Pradeep Kumar Maurya, Dinkar Kulshreshtha, Mayur Deepak Thakkar, Anup Kumar Thacker
OBJECTIVE: Acute neuromuscular weakness related to hypokalemia is a readily treatable disorder associated with diverse aetiologies. In this study we aim to report clinical pattern and biochemical features to identify the different aetiologies of the hypokalemic neuromuscular weakness. METHODS: Retrospective reviews of the medical record were analysed. Evaluation included demography, clinical features, investigations performed to ascertain the aetiologies. All the patients were categorised in to 3 groups; Idiopathic hypokalemic paralysis (IHP), dengue associated hypokalemic paralysis (DHP) and secondary group (SG) which included renal tubular acidosis (RTA- 1 and 2), thyrotoxic periodic paralysis (TPP) and Gitelman's syndrome (GS)...
September 15, 2017: Acta Neurologica Taiwanica
Laure Gallay, Arnaud Hot, Philippe Petiot, Françoise Thivolet-Bejui, Delphine Maucort-Boulch, Nathalie Streichenberger
OBJECTIVE: To better define in a cohort study the clinical and pathologic features of focal myositis (FM). METHODS: With the use of the usual clinicopathologic definition, each confirmed case of FM in the Lyon University Hospital's myopathologic database between 2000 and 2016 was retrieved. Clinical, pathologic, imaging, serologic, and therapeutic data were collected. When data were missing but feasible, appropriate pathologic analyses were performed. RESULTS: Of the 924 patients included in the database, 37 (4%) had confirmed FM (14 female, 23 male patients)...
February 21, 2018: Neurology
Xiaotang Cai, Dan Yu, Yongmei Xie, Hui Zhou
RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood. PATIENT CONCERNS: A Chinese boy initially presented with severe stunting and partial growth hormone deficiency (PGHD) at 3 years old and was initially treated with growth hormone replacement therapy...
February 2018: Medicine (Baltimore)
Kushan Karunaratne, Dimitri Amiras, Matthew C Pickering, Monika Hofer, Stuart Viegas
Statins lower serum cholesterol concentrations by inhibiting the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). Muscle side effects are relatively common and include asymptomatic elevation of serum creatine kinase (CK), myalgia, proximal muscle weakness and rhabdomyolysis. More recently, a subset of cases of immune-mediated necrotising myopathy has been found to have antibodies against HMGCR. It is often an aggressive and debilitating myopathy and has a complex pathogenesis characterised by fibre necrosis, usually with minimal associated inflammation...
February 8, 2018: Practical Neurology
Theodora U J Bruun, Sarah Sidky, Anabela O Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, Dwight D Koeberl, Diogo Luísa, Marie-Cecile Nassogne, Siobhan O'Sullivan, Katrin Õunap, Andreas Schulze, Lionel van Maldergem, Gajja S Salomons, Saadet Mercimek-Andrews
To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual disability; 2) seizures; 3) behavioural disorder. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
February 12, 2018: Metabolic Brain Disease
Anita MacDonald, Rachel Webster, Matthew Whitlock, Adam Gerrard, Anne Daly, Mary Anne Preece, Sharon Evans, Catherine Ashmore, Anupam Chakrapani, Suresh Vijay, Saikat Santra
BACKGROUND: Children with long-chain fatty acid β-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with a specialist infant formula, with medium chain triglyceride (MCT) mainly replacing long chain triglyceride (LCT). It is essential that the safety and efficacy of any new specialist formula designed for LCFAOD be tested in infants and children. METHODS: In an open-label, 21-day, phase I trial, we studied the safety of a new MCT-based formula (feed 1) in six well-controlled children (three male), aged 7-13 years (median 9 years) with LCFAOD (very long chain acyl CoA dehydrogenase deficiency [VLCADD], n=2; long chain 3-hydroxyacyl CoA dehydrogenase deficiency [LCHADD], n=2; carnitine acyl carnitine translocase deficiency [CACTD], n=2)...
February 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Osman Perez, Kairavee Dave, Aimee Almanzar, Tajul Prodhan, Livasky Concepion
Neuropsychiatric systemic lupus erythematosus (NPSLE) has a wide variety of neurologic and psychiatric features. NPSLE symptoms and the psychotic features of primary psychiatric disorders often overlap with each other. These psychotic features often mask and delay the diagnosis of NPSLE. We present the case of a 59-year-old female previously diagnosed with bipolar disorder and generalized anxiety disorder presenting with altered mental status (AMS), subsequently diagnosed with neuropsychiatric lupus. Initially, medication overdose was suspected as an empty bottle of trazodone was found beside her...
October 23, 2017: Curēus
Nicole Ebner, Stephan von Haehling
This article highlights the updates from preclinical and clinical studies into the field of wasting disorders that were presented at the 10th Cachexia Conference held in Rome, Italy, in December 2017. This year's conference saw some interesting results of larger-scale studies and clinical trials and new therapeutic targets. Herein, we summarize the biological and clinical significance of different markers and new diagnostic tools and cut-offs for the detection of skeletal muscle wasting, including micro RNAs, the ubiquitin-proteasome system, mTOR signalling, news in body composition analysis including the D3-creatine dilution method, and new biomarkers...
February 2018: Journal of Cachexia, Sarcopenia and Muscle
Tania Bitar, Sylvie Mavel, Patrick Emond, Lydie Nadal-Desbarats, Antoine Lefèvre, Hanna Mattar, Michel Soufia, Hélène Blasco, Patrick Vourc'h, Walid Hleihel, Christian R Andres
We analyzed for the first time the metabolic profile of Lebanese children affected by autistic disorders to compare this profile to other metabolomics studies and to identify the associated metabolic disturbances. Urine samples of 40 patients with Autism spectrum disorder (ASD) and 40 healthy matched controls were analyzed using nuclear magnetic resonance (NMR) and liquid chromatography coupled to high-resolution mass spectrometry (LC-MS). Multivariate analysis on analytical data fusion was conducted on the training set of 50 urine samples, and then validated with a test set of 30 samples, this repeated 10 times...
January 29, 2018: Journal of Pharmaceutical and Biomedical Analysis
Chitra Subramani, Arivukkodi Rajakkannu, Arunadevi Rathinam, Sudesh Gaidhani, Ilavarasan Raju, Dhiman Vaidya Kartar Singh
Premna integrifolia Linn. is a medicinal plant used in "Dhasamula" drug preparation of Ayurvedic systems of medicine in the treatment of various ailments like bronchitis, dyspepsia, liver disorders, piles, constipation, hyperlipidemia and fever. The anti-atherosclerotic activity of hydroalcoholic extract (HAE) of root bark of P. integrifolia was evaluated in high fat diet induced atherosclerosis rats. Sixty Wistar rats were divided into six groups: the first group served as control, the second group was fed with high fat diet and the other three groups were fed with high fat diet along with various concentrations of HAE and the last group was treated with atorvastatin for 30 days...
April 2017: Journal of Pharmaceutical Analysis
Halil Ibrahim Aydin
BACKGROUND: Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. CASE CHARACTERISTICS: Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation. OUTCOME: Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems...
January 15, 2018: Indian Pediatrics
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