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https://www.readbyqxmd.com/read/27853989/proposed-recommendations-for-diagnosing-and-managing-individuals-with-glutaric-aciduria-type-i-second-revision
#1
REVIEW
Nikolas Boy, Chris Mühlhausen, Esther M Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R Greenberg, Inga Harting, Georg F Hoffmann, Daniela Karall, David M Koeller, Michael B Krawinkel, Jürgen G Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines)...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27835968/a-case-of-rapid-onset-dystonia-parkinsonism-accompanied-by-pyramidal-tract-impairment
#2
Yanqiu Liu, Yan Lu, Xinqing Zhang, Shuping Xie, Tingting Wang, Tianwen Wu, Chaoyan Wang
BACKGROUND: Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. To date, fewer than 75 RDP cases have been reported worldwide. Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski sign. CASE PRESENTATION: We report a 24-year-old Chinese female with RDP who exhibited a strikingly asymmetric, predominantly dystonic movement disorder with a rostrocaudal gradient of involvement and parkinsonism...
November 11, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27833231/acute-dystonia-after-single-dose-of-bupropion
#3
Forouzan Elyasi, Elham Mahtiyan
Bupropion is an antidepressant that is effective in the treatment of major depressive disorders, smoking cessation, and sexual side effects of selective serotonin reuptake inhibitors. Acute dystonia is characterized by prolonged muscle contraction often represented by spasms of the head and neck muscles as well as occasional jaw clenching and temporomandibular joint syndrome. Although it is believed that dystonia is the result of an abnormality of the basal ganglia, its pathophysiology is still unclear. A few cases of dystonia resulting from bupropion have been reported in prior research papers...
September 2016: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/27664338/an-unusual-cause-of-cervical-kyphosis
#4
Mamtha S Raj, Joseph H Schwab
BACKGROUND CONTEXT: Acute fixed cervical kyphosis may be a rare presentation of conversion disorder, psychogenic dystonia, and potentially as a side effect from typical antipsychotic drugs. Haldol has been associated with acute dystonic reactions. In some cases, rigid deformities ensue. We are reporting a case of a fixed cervical kyphosis after the use of Haldol. PURPOSE: To present a case of a potential acute dystonic reaction temporally associated with Haldol ingestion leading to fixed cervical kyphosis...
September 21, 2016: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/27593209/mixed-mania-associated-with-cessation-of-breastfeeding
#5
Kristen A Schmidt, Brian A Palmer, Mark A Frye
BACKGROUND: This case chronicles the unique presentation of psychotic mixed mania in a female 5 months after parturition and 1 week following breastfeeding discontinuation, highlighting a rarely recognized mania risk factor that is temporally delayed from parturition: breastfeeding discontinuation. CASE PRESENTATION: A 25-year-old G1P1 female with a past psychiatric history of a depressive episode in adolescence presented to the Emergency Department with her 5-month-old daughter, fiancée, and family 1 week after breastfeeding cessation...
December 2016: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/27566001/neuropsychological-and-fdg-pet-profiles-in-vgkc-autoimmune-limbic-encephalitis
#6
Alessandra Dodich, Chiara Cerami, Sandro Iannaccone, Alessandra Marcone, Pierpaolo Alongi, Chiara Crespi, Nicola Canessa, Francesca Andreetta, Andrea Falini, Stefano F Cappa, Daniela Perani
BACKGROUND: Limbic encephalitis (LE) is characterized by an acute or subacute onset with memory impairments, confusional state, behavioral disorders, variably associated with seizures and dystonic movements. It is due to inflammatory processes that selectively affect the medial temporal lobe structures. Voltage-gate potassium channel (VGKC) autoantibodies are frequently observed. In this study, we assessed at the individual level FDG-PET brain metabolic dysfunctions and neuropsychological profiles in three autoimmune LE cases seropositive for neuronal VGKC-complex autoantibodies...
October 2016: Brain and Cognition
https://www.readbyqxmd.com/read/27504896/deep-brain-stimulation-for-status-dystonicus-a-case-series-and-review-of-the-literature
#7
Sharona Ben-Haim, Virginia Flatow, Tyler Cheung, Catherine Cho, Michele Tagliati, Ron L Alterman
BACKGROUND: Status dystonicus (SD) is a rare and potentially life-threatening complication of primary or secondary dystonia, characterized by acute worsening of dystonic movements. There is no consensus regarding optimal treatment, which may be medical and/or surgical. METHODS: We present our experience with pallidal deep brain stimulation (DBS) in 5 DYT1-positive patients with SD and provide a review of the literature to examine optimal management. RESULTS: Of the 5 patients treated with pallidal DBS, all experienced postoperative resolution of their dystonic crisis within a range of 1-21 days...
2016: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/27408805/nonconvulsive-status-epilepticus-cases-arising-in-connection-with-cephalosporins
#8
Ibrahim Bora, Aylin Bican Demir, Pinar Uzun
Cephalosporins, particularly cefepime, exert neurotoxic side effects that can lead to status epilepticus. These neurotoxic side effects include myoclonus, dystonic movements, tremor, asterixis, seizure, status epilepticus, encephalopathy, and sometimes coma. Status epilepticus, particularly nonconvulsive status epilepticus (NCSE), is a well-known but unusual complication in patients with altered renal function who were receiving treatment with intravenous cephalosporins, especially cefepime. We reviewed the clinical and electroencephalographic (EEG) characteristics of 7 patients with renal failure who developed consciousness alterations with changes in EEG activity while being treated with cephalosporins...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27378932/insights-into-the-pathology-of-the-%C3%AE-3-na-k-atpase-ion-pump-in-neurological-disorders-lessons-from-animal-models
#9
REVIEW
Thomas H Holm, Karin Lykke-Hartmann
The transmembrane Na(+)-/K(+) ATPase is located at the plasma membrane of all mammalian cells. The Na(+)-/K(+) ATPase utilizes energy from ATP hydrolysis to extrude three Na(+) cations and import two K(+) cations into the cell. The minimum constellation for an active Na(+)-/K(+) ATPase is one alpha (α) and one beta (β) subunit. Mammals express four α isoforms (α1-4), encoded by the ATP1A1-4 genes, respectively. The α1 isoform is ubiquitously expressed in the adult central nervous system (CNS) whereas α2 primarily is expressed in astrocytes and α3 in neurons...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27314757/pathophysiological-concepts-and-treatment-of-camptocormia
#10
N G Margraf, A Wrede, G Deuschl, W J Schulz-Schaeffer
Camptocormia is a disabling pathological, non-fixed, forward bending of the trunk. The clinical definition using only the bending angle is insufficient; it should include the subjectively perceived inability to stand upright, occurrence of back pain, typical individual complaints, and need for walking aids and compensatory signs (e.g. back-swept wing sign). Due to the heterogeneous etiologies of camptocormia a broad diagnostic approach is necessary. Camptocormia is most frequently encountered in movement disorders (PD and dystonia) and muscles diseases (myositis and myopathy, mainly facio-scapulo-humeral muscular dystrophy (FSHD))...
June 16, 2016: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/27154343/asenapine-induced-acute-dystonia-in-an-adolescent-male
#11
Dhrubajyoti Bhuyan, Soumitra Ghosh, Arnab Bhattacharya, Samir Kumar Praharaj
Asenapine is a sublingually absorbed newer second-generation antipsychotic that is approved for the treatment of schizophrenia and bipolar disorder in patients, with a lower extrapyramidal adverse effect potential. We report an adolescent boy having schizophrenia who developed an acute dystonic reaction after 4 days when the dose of asenapine was increased from 10 to 15 mg per day.
May 6, 2016: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/27062528/a-retrospective-analysis-of-triptan-and-dhe-use-for-basilar-and-hemiplegic-migraine
#12
Paul G Mathew, Regina Krel, Bhuvin Buddhdev, Hossein Ansari, Shivang G Joshi, Warren D Spinner, Brad C Klein
BACKGROUND: Patients with basilar migraine (BM) and hemiplegic migraine (HM) have been excluded from triptan and DHE clinical trials due to a potential risk of ischemic vascular events, and the FDA mandates that package labeling state that they are contraindicated in BM and HM. The objective of this study was to demonstrate that triptans and DHE can be used for the abortive treatment of BM and HM without significant adverse ischemic vascular events. METHODS: A retrospective chart review of patients with BM features or HM who received acute abortive treatment with either triptans or DHE was conducted at 4 headache centers to assess the frequency of ischemic vascular events after administration...
April 8, 2016: Headache
https://www.readbyqxmd.com/read/26955276/tetrabenazine-induced-oculogyric-crisis-a-rare-complication-in-the-treatment-of-gilles-de-la-tourette-syndrome
#13
Piotr Janik, Monika Figura
Tetrabenazine is used in the treatment of chorea, tardive dyskinesia, tics, and dystonia. It rarely causes acute eyeball dystonia and the description of this complication in Gilles de la Tourette syndrome is limited. We provide a description of an acute oculogyric crisis caused by tetrabenazine in a patient with severe tics. The patient had never developed acute dystonic reactions, although he was previously exposed to numerous dopamine receptor-blocking agents. After 8 days of therapy with tetrabenazine at a dose of 62...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/26847429/the-long-term-treatment-of-a-patient-with-type-1-diabetes-mellitus-and-glutaric-aciduria-type-1-the-effect-of-insulin
#14
Monica Del Rizzo, Alfonso Galderisi, Andrea Celato, Francesca Furlan, Laura Giordano, Chiara Cazzorla, Ilaria Fasan, Carlo Moretti, Johannes Zschocke, Alberto B Burlina
UNLABELLED: The coexistence of two diseases associated with different metabolic disorders is a very rare event. Some associations, although sporadic, can be particularly challenging both in terms of diagnostic and therapeutic management and in terms of theoretical perspective. Here, we report a child affected by type 1 diabetes mellitus (T1DM) and glutaric aciduria type 1 (GA1). The child was diagnosed with classical T1DM at 15 months of age, with a tendency toward hypoglycemia. A few months later, during an acute intercurrent infective episode, the child displayed acute hypotonia of the lower limbs and limbs dystonia...
August 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/26807375/bilateral-reversible-basal-ganglia-changes-associated-with-dystonia-and-hemifacial-spasms-in-central-nervous-system-lupus
#15
Kit Wu, Loucas Christodoulou, Ata Siddiqui, David D'Cruz, Thomasin Andrews
We report a 40-year-old woman with systemic lupus erythematosus (SLE) and associated inflammatory polyarthritis who presented with acute facial dystonic spasms. Her speech was also affected. An MRI brain showed bilateral symmetrical basal ganglia signal change on T2. This movement disorder was due to an acute manifestation of her lupus. Her symptoms resolved rapidly following treatment with (oral) steroids. Repeat MRI brain at 1 month showed complete resolution of the basal ganglia signal change. This is the first time that facial spasms and dystonia with corresponding MRI changes are reported as a presentation of lupus affecting the central nervous system (CNS lupus)...
December 2015: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/26715798/trimethoprim-sulfamethoxazole-induced-rhabdomyolysis-gabapentin-induced-hypoglycemia-in-diabetic-and-nondiabetic-patients-purple-glove-syndrome-after-oral-phenytoin-administration-acute-dystonic-reaction-after-methylphenidate-initiation-serotonin-syndrome-with
#16
Michael A Mancano
The purpose of this feature is to heighten awareness of specific adverse drug reactions (ADRs), discuss methods of prevention, and promote reporting of ADRs to the US Food and Drug Administration's (FDA's) MedWatch program (800-FDA-1088). If you have reported an interesting, preventable ADR to MedWatch, please consider sharing the account with our readers. Write to Dr. Mancano at ISMP, 200 Lakeside Drive, Suite 200, Horsham, PA 19044 (phone: 215-707-4936; e-mail: mmancano@temple.edu). Your report will be published anonymously unless otherwise requested...
September 2015: Hospital Pharmacy
https://www.readbyqxmd.com/read/26631408/uremic-parkinsonism-with-atypical-phenotypes-and-radiologic-features
#17
Jee-Eun Yoon, Ji Sun Kim, Jeong-Ho Park, Kyung-Bok Lee, Hakjae Roh, Sung Tae Park, Jin Whan Cho, Moo-young Ahn
Uremic encephalopathy with bilateral basal ganglia lesions has been reported as an acute neurometabolic disease which shows reversible clinical course and brain imaging features. The exact nature and pathophysiology have not been well established. We encountered two patients who showed a relapsing and aggravating course and an atypical phenotype including parkinsonism with paroxysmal dystonic head tremor and acute onset monoparesis of the lower extremity. They also showed unusual radiological findings which revealed combined lesions in the basal ganglia and cortex, persistent hemorrhagic transformation, and focal ischemic lesion in the internal capsule...
April 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/26605035/acute-dystonia-in-a-patient-with-22q11-2-deletion-syndrome
#18
Konstantinos Kontoangelos, Antonis Maillis, Maria Maltezou, Sofia Tsiori, Charalambos C Papageorgiou
The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia...
September 30, 2015: Mental Illness
https://www.readbyqxmd.com/read/26564300/acute-dystonic-reaction-due-to-dexketoprofen-trometamol
#19
Afsin Emre Kayipmaz, Tufan Akin Giray, Suleyman Serdar Tasci, Suleyman Serdar Tasci, Cemil Kavalci, Ummu Gulsum Kocalar
Dexketoprofentrometamol (DKP), is a tromethamine salt of the water-soluble S-enantiomer of ketoprofen. As with all other non-steroidal anti-inflammatory agents, the most common side effect of DKP is gastric complications. In this paper, we report a case of dystonic reaction after intravenous DKP use. A 24-year-old man was admitted to our hospital after suffering a leg burn from boiling oil. He had no drug hypersensitivity. An intravenous preparation containing the active ingredient DKP was injected for analgesia, after which the patient experienced an involuntary flexion response in both upper extremities...
November 2015: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/26450637/modulation-of-muscle-tone-and-sympathovagal-balance-in-cervical-dystonia-using-percutaneous-stimulation-of-the-auricular-vagus-nerve
#20
Stefan Kampusch, Eugenijus Kaniusas, Jozsef C Széles
Primary cervical dystonia is characterized by abnormal, involuntary, and sustained contractions of cervical muscles. Current ways of treatment focus on alleviating symptomatic muscle activity. Besides pharmacological treatment, in severe cases patients may receive neuromodulative intervention such as deep brain stimulation. However, these (highly invasive) methods have some major drawbacks. For the first time, percutaneous auricular vagus nerve stimulation (pVNS) was applied in a single case of primary cervical dystonia...
October 2015: Artificial Organs
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