Results 41 to 50 of about 1,346,685 (174)

RCNI Rape Crisis Statistics 2020 [PDF]

open access: yes, 2021
Annual data entered by Rape Crisis Centres into the RCNI Data Collection ...
Mears, Elaine
core  

Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

open access: yesJIMD Reports, 2020
Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10‐month‐old infant who was symptomatic since 5 months of age and who received ...
Sunita Bijarnia‐Mahay   +2 more
doaj   +1 more source

Metoclopramide-Induced Acute Dystonic Reaction: A Case Report

open access: yesEurasian Journal of Medicine, 2019
The aim of this case report is to draw attention to the frequent occurrence of metoclopramide-induced movement disorders. We report a case of an acute dystonic reaction to metoclopramide in a patient treated for hepatitis A.
Gul Karagoz   +5 more
doaj   +1 more source

Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

open access: yesMolecular Genetics and Metabolism Reports, 2021
Aromatic L-amino acid decarboxylase (AADCD) deficiency is an autosomal recessive neurometabolic disorder, caused by biallelic mutations in the DDC gene, that impairs the synthesis or metabolism of neurotransmitters leading to severe motor dysfunction ...
Francyne Kubaski   +8 more
doaj   +1 more source

Metoclopramide-induced acute oculogyric crisis treated with biperiden: A case report [PDF]

open access: yes, 1970
Metoclopramide is an antiemetic prescribed in general medical practice. The drug can cause acute dystonic reactions. Here, we described the case of a 23-year-old young woman with a chief complaint of blurred vision and later dystonic, oculogyric ...
Domina, Elisabetta, Saponara, Riccardo
core   +1 more source

Acute Laryngeal Dystonia Mimicking Anaphylaxis Following Antipsychotic Initiation: A Case Report. [PDF]

open access: yesCase Rep Psychiatry
Acute laryngeal dystonia (ALD) is an uncommon but potentially life‐threatening adverse effect of dopamine D2 receptor–blocking agents. Because airway symptoms predominate, it may be misdiagnosed as anaphylaxis. A 24‐year‐old woman developed recurrent episodes of throat tightness, dysphonia and stridor within days of antipsychotic initiation and ...
Wadhwa D.
europepmc   +2 more sources

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

open access: yesEpileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Acute Dystonic Reaction Following General Anesthetic Agent Use

open access: yesTremor and Other Hyperkinetic Movements, 2017
Background: A 36-year-old Thai female who underwent a thymectomy under general anesthesia developed acute abnormal movements in the craniofacial region immediately after awakening with preserved consciousness.Phenomenology: Intermittent ...
Jiraporn Jitprapaikulsan   +1 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad   +2 more
wiley   +1 more source

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