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Creatine disorders

Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Esra Dikoglu, Jennifer L Silhavy, Caner Caglar, Damir Musaev, Beate Albrecht, Kevin P Campbell, Tobias Willer, Mariam Almuriekhi, Ahmet Okay Çağlayan, Jiri Vajsar, Kaya Bilgüvar, Gonul Ogur, Rami Abou Jamra, Murat Günel, Joseph G Gleeson
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan...
October 14, 2016: American Journal of Human Genetics
Hiroko Kubo, Masahito Nakataki, Satsuki Sumitani, Jun-Ichi Iga, Shusuke Numata, Naomi Kameoka, Shin-Ya Watanabe, Hidehiro Umehara, Makoto Kinoshita, Masatoshi Inoshita, Mai Tamaru, Masashi Ohta, Chiaki Nakayama-Yamauchi, Yasuhiro Funakoshi, Masafumi Harada, Tetsuro Ohmori
BACKGROUND: Previous studies of patients with bipolar disorder (BD) using magnetic resonance spectroscopy (MRS) have shown neurophysiological abnormalities related to the glutamate (Glu)-glutamine (Gln) cycle, membrane turnover, and neuronal integrity, although the results were neither consistent nor conclusive. Recently it has been reported the Gln/Glu ratio is the most useful index, quantifying neuronal-glial interactions and the balance of glutamatergic metabolites In this MRS study, we elucidated the abnormalities of metabolites in a larger sample of patients with BD with a high-field MRI system...
October 8, 2016: Journal of Affective Disorders
Timo-Benjamin Baumeister, Ingo Wickenbrock, Christian A Perings
Methylphenidate (Ritalin(®)) is an increasingly used medication in the treatment of attention-deficit hyperactivity disorder (ADHD). Cardiovascular adverse effects like vasospasm or myocardial infarction are described as very rare adverse effects. We present the case of a 21-year-old man diagnosed with ADHD who recently started therapy with Ritalin(®) Adult 20 mg for at least 3 days. Afterwards he presented with chest pain, elevated troponin and creatine kinase, and posterolateral ST elevations. A myocarditis was initially supposed...
December 2016: Drug Saf Case Rep
Jaspinder Kaur, Dileep Kumar, Mostafa Alfishawy, Ricardo Lopez, Issac Sachmechi
Paliperidone, an active metabolite of risperidone, is a new atypical antipsychotic agent. Syndrome of inappropriate antidiuretic hormone (SIADH), neuroleptic malignant syndrome (NMS), and rhabdomyolysis are the uncommon side effects of psychotropic drugs. We report a case of 35-year-old male with schizoaffective disorder who was admitted for acute-on-chronic exacerbation of his psychotic disorder for which intramuscular paliperidone 234 mg injection was given. Two days later, the patient developed hyponatremic seizures secondary to SIADH which was treated with hypertonic saline...
2016: Case Reports in Critical Care
Marwan El Ghoch, Simona Calugi, Riccardo Dalle Grave
This case report describes the management of a 49-year-old female with restricting-type anorexia nervosa and excessive compulsive exercising associated with rhabdomyolysis, high levels of serum creatine kinase (CK) (3,238 U/L), and marked hyponatremia (Na(+): 123 mEq/L) in the absence of purging behaviours or psychogenic polydipsia; it is the first case report to describe exercise-associated hyponatremia in a patient with anorexia nervosa. The patient, who presented with a body mass index (BMI) of 13.4 kg/m(2), was successfully treated by means of an adapted inpatient version of an enhanced form of cognitive behavioural therapy (CBT-E)...
2016: Case Reports in Medicine
Russell G Port, William Gaetz, Luke Bloy, Dah-Jyuu Wang, Lisa Blaskey, Emily S Kuschner, Susan E Levy, Edward S Brodkin, Timothy P L Roberts
Autism spectrum disorder (ASD) is hypothesized to arise from imbalances between excitatory and inhibitory neurotransmission (E/I imbalance). Studies have demonstrated E/I imbalance in individuals with ASD and also corresponding rodent models. One neural process thought to be reliant on E/I balance is gamma-band activity (Gamma), with support arising from observed correlations between motor, as well as visual, Gamma and underlying GABA concentrations in healthy adults. Additionally, decreased Gamma has been observed in ASD individuals and relevant animal models, though the direct relationship between Gamma and GABA concentrations in ASD remains unexplored...
October 1, 2016: Autism Research: Official Journal of the International Society for Autism Research
Chiun-Chieh Yu, Meng-Hsiang Chen, Cheng-Hsien Lu, Yung-Cheng Huang, Hsiu-Ling Chen, Nai-Wen Tsai, Hung-Chen Wang, I-Hsiao Yang, Shau-Hsuan Li, Wei-Che Lin
Parkinson's disease (PD) is the most second common neurodegenerative movement disorder. Neuroinflammation due to systemic inflammation and elevated oxidative stress is considered a major factor promoting the pathogenesis of PD, but the relationship of structural brain imaging parameters to clinical inflammatory markers has not been well studied. Our aim was to evaluate the association of magnetic resonance spectroscopy (MRS) measures with inflammatory markers. Blood samples were collected from 33 patients with newly diagnosed PD and 30 healthy volunteers...
2016: Oxidative Medicine and Cellular Longevity
E C McKenzie, L V Eyrich, M E Payton, S J Valberg
A previous report suggests a substantial incidence of exertional rhabdomyolysis (ER) in Arabian horses performing endurance racing. This study compared formalin histopathology and clinical and metabolic responses to a standardised field exercise test (SET) between Arabians with and without ER. Arabian horses with (n = 10; age 15.4 ± 5.6 years) and without (n = 9; 12.9 ± 6.1 years) prior ER were stall-rested for 24-48 h, after which paired ER and control horses were fitted with a telemetric ECG and performed a 47 min submaximal SET...
October 2016: Veterinary Journal
Gerhard S Drenthen, Evelien M Barendse, Albert P Aldenkamp, Tamar M van Veenendaal, Nicolaas A J Puts, Richard A E Edden, Svitlana Zinger, Geert Thoonen, Marc P H Hendriks, Roy P C Kessels, Jacobus F A Jansen
Previous studies have suggested that alterations in excitatory/inhibitory neurotransmitters might play a crucial role in autism spectrum disorder (ASD). Proton magnetic resonance spectroscopy ((1)H-MRS) can provide valuable information about abnormal brain metabolism and neurotransmitter concentrations. However, few (1)H-MRS studies have been published on the imbalance of the two most abundant neurotransmitters in ASD: glutamate (Glu) and gamma-aminobutyric acid (GABA). Moreover, to our knowledge none of these published studies is performed with a study population consisting purely of high-functioning autism (HFA) adolescents...
October 30, 2016: Psychiatry Research
Yuki Kageyama, Takaoki Kasahara, Hiromasa Morishita, Nobuko Mataga, Yasuhiko Deguchi, Munehide Tani, Kenji Kuroda, Kotaro Hattori, Sumiko Yoshida, Koki Inoue, Tadafumi Kato
AIMS: There is an urgent need for diagnostic biomarkers of bipolar disorder (BD) and schizophrenia (SZ); however, confounding effects of medication on hamper biomarker discovery. In this study, we conducted metabolome analyses to identify novel plasma biomarkers in drug-free patients with BD and SZ. METHODS: We comprehensively analyzed plasma metabolites using capillary electrophoresis time-of-flight mass spectrometry (CE-TOFMS) in patients with SZ (n = 17), BD (n = 6), and major depressive disorder (n = 9), who had not received psychotropics for at least two weeks, and in matched healthy controls (n = 19)...
September 27, 2016: Psychiatry and Clinical Neurosciences
Burç Aydin, Ayşegül Yurt, Necati Gökmen, Perry Renshaw, David Olson, Ayşegül Yildiz
BACKGROUND: Neurochemical changes are responsible for bipolar disorder (BD) pathophysiology. Despite current progress in BD research, mood- and trait-related alterations in BD continue to elicit further investigation. METHODS: In this study, we report a longitudinal proton magnetic resonance spectroscopy study evaluating dorsomedial prefrontal cortex (DMPFC) metabolites N-acetylaspartate (NAA), creatine plus phosphocreatine (total creatine [tCr]), phosphorylcholine plus glycerophosphocholine, myo-inositol, and glutamate plus glutamine levels of manic and euthymic adult BD type I patients (n=48) treated with standard antimanic medicines, compared to matching healthy controls (n=44)...
September 9, 2016: Journal of Affective Disorders
Daouia I Larabi, Edith J Liemburg, Gerdina H M Pijnenborg, Anita Sibeijn-Kuiper, Annerieke E de Vos, Leonie Bais, Henderikus Knegtering, Branislava Ćurčić-Blake, André Aleman
Insight is impaired in most patients with psychosis and has been associated with poorer prognosis. The exact neural basis of impaired insight is still unknown, but it may involve disrupted prefrontal neural connectivity. Numerous studies have indeed found white matter (WM) abnormalities in psychosis. The association between prefrontal WM abnormalities and insight has not been studied yet by means of proton magnetic resonance spectroscopy ((1)H-MRS). (1)H-MRS can be used to measure N-acetylaspartate (NAA), which is considered to be a marker of neuronal integrity...
September 19, 2016: Schizophrenia Research
L Su, A M Blamire, R Watson, J He, L Hayes, J T O'Brien
Magnetic resonance spectroscopy has demonstrated metabolite changes in neurodegenerative disorders such as Alzheimer's disease (AD) and dementia with Lewy bodies (DLB); however, their pattern and relationship to clinical symptoms is unclear. To determine whether the spatial patterns of brain-metabolite changes in AD and DLB are regional or diffused, and to examine whether the key metabolite levels are associated with cognitive and non-cognitive symptoms, we acquired whole-brain spatially resolved 3T magnetic resonance spectroscopic imaging (MRSI) data from subjects with AD (N=36), DLB (N=35) and similarly aged controls (N=35)...
August 30, 2016: Translational Psychiatry
Erika F Augustine, E Ray Dorsey, Robert A Hauser, Jordan J Elm, Barbara C Tilley, Karl K Kieburtz
BACKGROUND: Communicating with trial participants is an important aspect of study conduct, relevant for informed consent and respect for participants. Group teleconferences are one means to convey information to trial participants. We used group teleconferences during an ongoing large-scale clinical trial to communicate important trial updates. METHODS: The National Institute of Neurological Disorders and Stroke Exploratory Trials in Parkinson's Disease Longitudinal Study-1 trial studied creatine for treatment of early-stage Parkinson's disease...
August 29, 2016: Clinical Trials: Journal of the Society for Clinical Trials
Liliana Ramona Demenescu, Lejla Colic, Meng Li, Adam Safron, B Biswal, Coraline Danielle Metzger, Shijia Li, Martin Walter
Abnormal anterior insula (AI) response and functional connectivity (FC) is associated with depression. In addition to clinical features, such as severity, AI FC and its metabolism further predicted therapeutic response. Abnormal FC between anterior cingulate and AI covaried with reduced glutamate level within cingulate cortex. Recently, deficient glial glutamate conversion was found in AI in major depression disorder (MDD). We therefore postulate a local glutamatergic mechanism in insula cortex of depressive patients, which is correlated with symptoms severity and itself influences AI's network connectivity in MDD...
August 25, 2016: European Archives of Psychiatry and Clinical Neuroscience
Phillip L Pearl
Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably treatable severe pediatric epilepsies allows for early identification, testing, and treatment. These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalopathy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood...
May 2016: Seminars in Pediatric Neurology
Mónica Alejandra Anaya-Segura, Héctor Rangel-Villalobos, Gabriela Martínez-Cortés, Benjamín Gómez-Díaz, Ramón Mauricio Coral-Vázquez, Edgar Oswaldo Zamora-González, Silvia García, Luz Berenice López-Hernández
Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK) allow tracking of the at-risk haplotype and evidence muscle damage, respectively. Such approaches are useful for carrier detection in cases of unknown mutations. The lack of informative markers and the inaccuracy of CK affect carrier detection. Therefore, herein we designed novel mini-STR (Short Tandem Repeats) assays to amplify 10 loci within the DMD gene and estimated allele frequencies and the polymorphism information content among other parameters in 337 unrelated individuals from three Mexican populations...
2016: International Journal of Molecular Sciences
David Kitzenberg, Sean P Colgan, Louise E Glover
The creatine/phosphocreatine pathway plays a conserved and central role in energy metabolism. Compartmentalization of specific creatine kinase enzymes permits buffering of local high energy phosphates in a thermodynamically favorable manner, enabling both rapid energy storage and energy transfer within the cell. Augmentation of this metabolic pathway by nutritional creatine supplementation has been shown to elicit beneficial effects in a number of diverse pathologies, particularly those that incur tissue ischemia, hypoxia or oxidative stress...
December 2016: Clinical and Translational Medicine
Mariann Bombicz, Daniel Priksz, Balazs Varga, Rudolf Gesztelyi, Attila Kertesz, Peter Lengyel, Peter Balogh, Dezso Csupor, Judit Hohmann, Harjit Pal Bhattoa, David D Haines, Bela Juhasz
The present investigation evaluates the capacity of Allium ursinum (wild garlic) leaf lyophilisate (WGLL; alliin content: 0.261%) to mitigate cardiovascular damage in hypercholesterolemic rabbits. New Zealand rabbits were divided into three groups: (i) cholesterol-free rabbit chow (control); (ii) rabbit chow containing 2% cholesterol (hypercholesterolemic, HC); (iii) rabbit chow containing 2% cholesterol + 2% WGLL (hypercholesterolemic treated, HCT); for eight weeks. At the zero- and eight-week time points, echocardiographic measurements were made, along with the determination of basic serum parameters...
2016: International Journal of Molecular Sciences
Duygu Kirtaş, Rukiye Filiz Karadağ, Melike Ceyhan Balci Şengül, Yılmaz Kiroğlu
BACKGROUND/AIM: The aim of this study was to compare metabolite levels of the dorsolateral prefrontal cortex (DLPFC), anterior cingulate gyrus (ACG), thalamus, and hippocampus in patients with chronic schizophrenia (CSPs) and first psychotic episode patients (FEPs) by the use of magnetic resonance spectroscopy (MRS). MATERIALS AND METHODS: Thirty CSPs, 20 FEPs, and 30 healthy subjects participated in this study. N-Acetylaspartate (NAA), creatine, choline (Cho), and myoinositol levels of the DLPFC, ACG, thalamus, and hippocampus were measured by 1H-MRS...
2016: Turkish Journal of Medical Sciences
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