keyword
https://read.qxmd.com/read/37168666/gpi-dbs-treatment-outcome-in-children-with-monogenic-dystonia-a-case-series-and-review-of-the-literature
#21
Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
INTRODUCTION: Dystonia is the third most common pediatric movement disorder and is often difficult to treat. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been demonstrated as a safe and effective treatment for genetic dystonia in adolescents and adults. The results of DBS in children are limited to individual cases or case series, although it has been proven to be an effective procedure in carefully selected pediatric cohorts. The aim of our study was to present the treatment outcome for 7- to 9-year-old pediatric patients with disabling monogenic isolated generalized DYT- THAP1 and DYT- KMT2B dystonia after bilateral GPi-DBS...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37057297/clinical-presentation-and-management-of-acute-dystonia-from-drug-abuse-or-misuse-in-adolescents-and-young-adults-a-retrospective-cohort-study-in-bangkok-thailand
#22
JOURNAL ARTICLE
Pootipong Wongveerasin, Rittirak Othong, Akkasil Pinchumponsang, Warunya Hungspruke, Peerarin Jongjaroenwit
OBJECTIVES: To describe the clinical presentation of acute dystonia (AD) from drug abuse or misuse, as well as the emergency department (ED) management and outcomes in adolescents and young adults. METHODS: This was a retrospective cohort study of patients aged 10-25 years who were admitted to the ED for AD due to intentional abuse or misuse from January 1, 2014, to June 30, 2017. Data were collected from electronic medical records by three investigators with excellent interrater reliability (0...
2023: Emergency Medicine International
https://read.qxmd.com/read/36949784/social-cognition-in-parkinson-s-disease-a-case-control-study
#23
JOURNAL ARTICLE
Govinda Siripurapu, Bhawna Verma, Deblina Biswas, Anandapadmanabhan Reghu, Aayushi Vishnoi, Divya Madathiparambil Radhakrishnan, Arunmozhimaran Elavarasi, Anu Gupta, Venugopalan Yamuna Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Manjari Tripathi, Achal Srivastava, Madakasira Vasantha Padma Srivastava, Roopa Rajan
BACKGROUND: Social cognition is the study of how people make sense of themselves and others. Impairment in several domains of social cognition is increasingly being recognized in Parkinson's disease (PD). OBJECTIVES: We aimed to study multiple domains of social cognition in Indian PD patients using a culturally appropriate, validated instrument. METHODS: We recruited 52 individuals with PD and 31 healthy volunteers (HV) and used the Social Cognition Rating Tools in Indian Setting (SOCRATIS) tool to assess theory of mind (ToM), attributional biases and social cue perception...
March 2023: Movement Disorders Clinical Practice
https://read.qxmd.com/read/36861586/a-case-of-parinaud-syndrome-in-a-patient-with-parkinson-s-disease-causal-association-or-co-incidental
#24
Souvik Dubey, Ritwik Ghosh, Biman Kanti Ray, Consuelo Gutiérrez-Ortiz, Julián Benito-León
BACKGROUND: Parinaud syndrome is a dorsal mid-brain syndrome characterized by upgaze paralysis, convergence retraction nystagmus, and pupillary light-near dissociation. Infarctions or hemorrhages involving the mid-brain are the most frequent causes in older adults. OBJECTIVE: To report a novel case of a patient who presented with classical parkinsonian signs and Parinaud syndrome. MATERIAL AND METHODS: Patient data were obtained from medical records from the Department of General Medicine, Burdwan Medical College and Hospital, Burdwan, West Bengal, India...
2023: Neurology India
https://read.qxmd.com/read/36858562/-changes-in-test-methods-for-internationalization-in-the-japanese-pharmacopoeia-part-3-establishment-of-a-quantitative-method-for-sodium-cromoglicate-and-trihexyphenidyl-hydrochloride-using-hplc-analysis
#25
JOURNAL ARTICLE
Genichiro Tsuji, Takahito Ito, Nahoko Uchiyama, Junko Hosoe, Yosuke Demizu, Yukihiro Goda
The Japanese Pharmacopoeia (JP) is an official normative publication for establishing the authenticity and properties and maintaining the quality of pharmaceutical products in Japan. The JP is revised every five years and partially revised in order to respond to the progress of science and technology, the demand for medical care, and international harmonization. Thus, "Internationalization of the JP" is one of the most important issues to address for the revision of the JP, which is also referred to the basic principles for the preparation of the JP 19th edition...
2023: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://read.qxmd.com/read/36705216/status-dystonicus-with-atypical-presentation-in-developmentally-delay-child-a-case-report
#26
JOURNAL ARTICLE
Shailendra Kumar Yadav, Pratibha Yadav, Gyabina Maharjan, Sujata Dahal, Nirajan Khati
UNLABELLED: Status dystonicus is characterised by involuntary sustained or intermittent muscle contractions of muscles causing repetitive twisting movements, abnormal postures of the body, or both is a rare but life-threatening movement disorder. Early diagnosis and management of status dystonicus prevent serious complications. We report a 2 years old previously developmental delay diagnosed girl who presented with generalised contractions of the whole body. Tightening of limbs is aggravated by touching her backside which is a very unique feature...
August 1, 2022: JNMA; Journal of the Nepal Medical Association
https://read.qxmd.com/read/36401901/effects-of-trihexyphenidyl-on-prefrontal-executive-function-and-spontaneous-neural-activity-in-patients-with-tremor-dominant-parkinson-s-disease-an-fnirs-study
#27
JOURNAL ARTICLE
Hai-Yang Wang, Xinqing Hao, Ren Lu, Tao Li, Lanlan Pu, Wei Liu, Zhanhua Liang
INTRODUCTION: The use of the anti-parkinsonian drug trihexyphenidyl (THP) to treat patients with Parkinson's disease (PD), particularly those with tremor-dominant PD (tdPD), has been well documented. Despite growing concerns about THP causing cognitive decline in tdPD patients, the underlying neural correlates remain unclear. Therefore, we investigated the effects of THP on prefrontal executive function and spontaneous neural activity in patients with tdPD by utilizing functional near-infrared spectroscopy (fNIRS)...
November 12, 2022: Parkinsonism & related Disorders
https://read.qxmd.com/read/36373299/trihexyphenidyl-in-young-children-with-dystonic-cerebral-palsy-a-single-arm-study
#28
JOURNAL ARTICLE
Lavanya Rajkumar, Abhinaya Ventatakrishnan, Smitha Sairam, Megha Khosla, Ritu Khanna, Biswajit Das, Devendra Mishra, Monica Juneja
PURPOSE: The incidence of dystonic cerebral palsy causing significant morbidity is on the rise. There is a paucity of evidence for the management of dystonia in children. METHODS: Forty-one children aged 6 months-5 years with predominantly dystonic cerebral palsy were started on a predetermined protocol of trihexyphenidyl (0.25-0.52 mg/kg) and followed up at 3, 6 and 12 weeks. Dystonia severity, motor function and developmental age at baseline and 12 weeks were compared using the Global Dystonia Scale (GDS), the Gross Motor Function Measure (GMFM), and Fine Motor/Perceptual Subscale of the Early Developmental Profile-2...
November 7, 2022: Journal of Pediatric Rehabilitation Medicine
https://read.qxmd.com/read/36329866/electrophysiological-characterization-of-the-striatal-cholinergic-interneurons-in-dyt1-%C3%AE-gag-knock-in-mice
#29
JOURNAL ARTICLE
Hong Xing, Fumiaki Yokoi, Ariel Luz Walker, Rosemarie Torres-Medina, Yuning Liu, Yuqing Li
DYT1 dystonia is an inherited early-onset movement disorder characterized by sustained muscle contractions causing twisting, repetitive movements, and abnormal postures. Most DYT1 patients have a heterozygous trinucleotide GAG deletion mutation ( ΔGAG ) in DYT1/TOR1A, coding for torsinA. Dyt1 heterozygous ΔGAG knock-in (KI) mice show motor deficits and reduced striatal dopamine receptor 2 (D2R). Striatal cholinergic interneurons (ChIs) are essential in regulating striatal motor circuits. Multiple dystonia rodent models, including KI mice, show altered ChI firing and modulation...
July 2022: Dystonia
https://read.qxmd.com/read/36059322/woodhouse-sakati-syndrome-presenting-with-psychotic-features-after-starting-trihexyphenidyl-a-case-report
#30
Mohammed A Aljaffer, Ahmad H Almadani, Mohammad AlMutlaq, Abdulaziz Alhammad, Ahmed S Alyahya
Woodhouse-Sakati syndrome is a rare, autosomal recessive, multisystemic disorder first identified as a constellation of hypogonadism, mental retardation, diabetes, alopecia, deafness, and electrocardiogram abnormalities.  We report a case of a 33-year-old woman who was born to consanguineous parents. She is suffering from hypergonadotropic hypogonadism, extrapyramidal symptoms, hypothyroidism, alopecia, and sensorineural hearing loss. Her MRI showed iron depositions in globus pallidus bilaterally. She underwent genetic testing and was diagnosed with Woodhouse-Sakati syndrome...
August 2022: Curēus
https://read.qxmd.com/read/36042765/adrenocorticotropic-hormone-induced-status-dystonicus-in-a-child-with-west-syndrome
#31
Jasmine Singh, Roosy Aulakh
Dystonia is a movement disorder characterized by involuntary sustained or intermittent muscle contraction causing repetitive twisting movements and abnormal postures. Status dystonicus (SD) is an enigmatic disease of cryptic etiology. We hereby report a child with West syndrome (WS) who went on to develop SD following intramuscular adrenocorticotropic hormone (ACTH) injection. An 11-month-old male child presented with complaints of flexor spasms for 2 months. The diagnosis of WS was confirmed by electroencephalography (EEG), which showed hypsarrhythmia...
August 2022: Indian Journal of Critical Care Medicine
https://read.qxmd.com/read/35973600/trihexyphenidyl-increases-delta-activity-in-non-rapid-eye-movement-sleep-without-impairing-cognitive-function-in-rodent-models
#32
JOURNAL ARTICLE
Ji Chuan Zhou, Jian Bo Jiang, Han Guo, Su Rong Yang, Chun Feng Liu, Wei Min Qu, Zhi Li Huang, Feng Fei Ding
Both human and rodent studies suggest the link between non-rapid eye movement (NREM) sleep and cognition. Recent study indicated that selective activation of cholinergic neurons in basal forebrain inhibits electroencephalogram (EEG) delta power and shortens NREM sleep. In the current study, we aimed to test the pharmacological effect of trihexyphenidyl (THP), a selective muscarinic M1 receptor antagonist, on EEG power spectra and sleep with or without the selective activation of basal forebrain cholinergic neurons...
August 13, 2022: Neuropharmacology
https://read.qxmd.com/read/35867274/gabapentin-as-add-on-therapy-to-trihexyphenidyl-in-children-with-dyskinetic-cerebral-palsy-a-randomized-controlled-trial
#33
JOURNAL ARTICLE
Sonu Kumar, Jaya Shankar Kaushik, Savita Verma, Surekha Dabla
OBJECTIVE: To compare the efficacy of gabapentin as add-on therapy to trihexyphenidyl in the treatment of children with dyskinetic cerebral palsy (CP). METHODS: An open-labelled, randomized, controlled trial was conducted among children aged 3-9 y with dyskinetic CP [Gross Motor Functional Classification System (GMFCS) 4-5]. Participants were assigned into two groups: gabapentin with trihexyphenidyl (n = 30) and trihexyphenidyl alone (n = 30). Dyskinesia Impairment Scale (DIS), Dystonia Severity Assessment Plan (DSAP), and International Classification of Functioning, Disability, and Health-Children and Youth Version (ICF-CY) were measured at baseline, 4 and 12 wk...
July 22, 2022: Indian Journal of Pediatrics
https://read.qxmd.com/read/35688992/pharmacological-management-of-nightmares-associated-with-posttraumatic-stress-disorder
#34
REVIEW
Christoff Geldenhuys, Leigh L van den Heuvel, Petrus Steyn, Soraya Seedat
Posttraumatic stress disorder (PTSD) can be a chronic and disabling condition. Post-traumatic nightmares (PTNs) form a core component of PTSD and are highly prevalent in this patient population. Nightmares in PTSD have been associated with significant distress, functional impairment, poor health outcomes, and decreased quality of life. Nightmares in PTSD are also an independent risk factor for suicide. Nightmare cessation can lead to improved quality of life, fewer hospital admissions, lower healthcare costs, and reduced all-cause mortality...
July 2022: CNS Drugs
https://read.qxmd.com/read/35655240/type-1-neurodegeneration-with-brain-iron-accumulation-a-case-report
#35
JOURNAL ARTICLE
Pedro Enrique Labrada-Aguilera, David Armando Guach-Hevia, Carlos Rafael Almira-Gómez, Daniel Alejandro González-Lago
BACKGROUND: Type 1 neurodegeneration with brain iron accumulation is a rare neurological disorder with estimated prevalence of one to two per million persons worldwide, characterized by progressive degeneration of basal ganglia, globus pallidus, and reticular part of substantia nigra, produced by brain iron accumulation due to a defect in the gene producing pantothenate kinase 2. Clinical presentations include dystonia, dysarthria, dysphagia, dementia, severe mental retardation, and severe movement disability at later stages...
June 3, 2022: Journal of Medical Case Reports
https://read.qxmd.com/read/35651920/evolving-concepts-in-our-understanding-and-treatment-of-holmes-tremor-over-100-years-in-the-making
#36
REVIEW
Grace Hey, Wei Hu, Joshua Wong, Takashi Tsuboi, Matthew R Burns, Adolfo Ramirez-Zamora
Holmes Tremor (HT) is an irregular, slow-frequency (<4.5 Hz) tremor characterized by a combination of resting, postural, and action tremors mostly of the upper extremities. Symptoms of HT typically emerge 4 weeks to 2 years after a brain injury caused by a spectrum of etiologies. HT pathophysiology is thought to result from aberrant collateral axonal sprouting and synaptic dysfunction following neuronal damage. To date, the dopaminergic nigrostriatal system, cerebello-thalamo-cortical pathway, and dentate-rubro-olivary pathway have all been implicated in the clinical manifestations of HT...
2022: Tremor and Other Hyperkinetic Movements
https://read.qxmd.com/read/35599670/anticholinergic-treatment-for-sialorrhea-in-children-a-systematic-review
#37
JOURNAL ARTICLE
Peng You, Julie Strychowsky, Karan Gandhi, Breanna A Chen
BACKGROUND: Sialorrhea in children can be associated with adverse physical and social effects. Treatment using anticholinergic medications has been shown to offer symptomatic relief, but there is no consensus regarding which treatment is the most efficacious. OBJECTIVE: To examine the effectiveness of anticholinergic medications for sialorrhea in children. METHODS: A systematic review was carried out in Medline, EMBASE, Cochrane, Scopus, and the Web of Science from inception until April 29, 2020...
May 2022: Paediatrics & Child Health
https://read.qxmd.com/read/35481315/antipsychotic-drug-utilization-and-adverse-drug-reaction-profiling-in-patients-with-schizophrenia-at-a-tertiary-care-hospital-in-western-india
#38
JOURNAL ARTICLE
Raakhi K Tripathi, Snehalata Gajbhiye, Sharmila Jalgaonkar, Nishtha Khatri, Mohsin Sayyed, Shubhangi Parkar
Introduction Prescription pattern studies conducted in patients with schizophrenia have shown variability in the utilization of antipsychotics based on the geographical location of the study setting. Moreover, there is only a sparse number of studies specifically related to adverse drug reactions (ADRs) in schizophrenia. Hence, a need was felt to study the antipsychotic utilization pattern and adverse drug reactions in patients with schizophrenia in our setting. Methods This was a cross-sectional, observational study conducted at the psychiatry outpatient department (OPD) of a tertiary care hospital in India...
March 2022: Curēus
https://read.qxmd.com/read/35418819/-kmt2b-related-dystonia-challenges-in-diagnosis-and-treatment
#39
Ayşe Aksoy, Özlem Yayıcı Köken, Ahmet Cevdet Ceylan, Özge Toptaş Dedeoğlu
In this study, we report the first known Turkish case of a novel nonsense mutation c.2453dupT (p.M818fs*28) in the KMT2B (NM_014727.2) gene diagnosed in a male patient with KMT2B -related dystonia (DYT- KMT2B , DYT-28, Dystonia*-28), which is a complex, childhood-onset, progressive, hereditary dystonia. The patient, who is followed up from 9 to 13 years of age, had dysmorphic features, developmental delay, short stature, and microcephaly, in addition to focal dystonia and hemichorea (in the right and left lower extremities)...
February 2022: Molecular Syndromology
https://read.qxmd.com/read/35314320/blockade-of-m4-muscarinic-receptors-on-striatal-cholinergic-interneurons-normalizes-striatal-dopamine-release-in-a-mouse-model-of-tor1a-dystonia
#40
JOURNAL ARTICLE
Anthony M Downs, Yuping Donsante, H A Jinnah, Ellen J Hess
Trihexyphenidyl (THP), a non-selective muscarinic receptor (mAChR) antagonist, is commonly used for the treatment of dystonia associated with TOR1A, otherwise known as DYT1 dystonia. A better understanding of the mechanism of action of THP is a critical step in the development of better therapeutics with fewer side effects. We previously found that THP normalizes the deficit in striatal dopamine (DA) release in a mouse model of TOR1A dystonia (Tor1a+/ΔE knockin (KI) mice), revealing a plausible mechanism of action for this compound, considering that abnormal DA neurotransmission is consistently associated with many forms of dystonia...
June 15, 2022: Neurobiology of Disease
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