Search results for "Dyskinesia"

Oxidative stress in ciliated nasal epithelial cells from patients with primary ciliary dyskinesia

2016

Background: Primary ciliary dyskinesia (PCD) is a rare disorder characterized by dysfunction of respiratory cilia and impaired mucociliary clearance leading to recurrent airway infection and chronic inflammation appearing in childhood. Rationale and aims: Chronic inflammation has been associated to oxidative stress (OS). Moreover, evidence of increased OS in the airways of stable children with PCD has been shown (Zihlif, N. et al . Pediatr Pulmonol 2006; 41:509-14). We hypothesize that OS would be increased in ciliated nasal epithelial cells (CNEC) from patients with PCD. This study was aimed to assess the OS profile in CNEC isolated from children with PCD. Methods: CNEC were obtained from …

Knowledge of alpha-1 deficiency and primary ciliary dyskinesia by medical students and health professionals

2016

Background: Under-diagnosis and delayed diagnosis are common features in rare diseases, which have negative effects on the patients9 prognosis. A possible explanation could be lack of awareness and education of the health professionals involved in the managements of these patients. Alpha-1-antitrypsin deficiency (AATD) and primary ciliary dyskinesia (DCP) are under-diagnosed rare diseases showing a median diagnosis delay of five to ten years. Methods: A survey was undertaken in paediatricians (general, paediatric pulmonologists and paediatric gastroenterologist) and medical school students to assess their knowledge on AATD and PCD. Results: A total of 624 surveys on AATD and 457 on PCD were…

Nitric oxide modulation of the basal ganglia circuitry: therapeutic implication for Parkinson's disease and other motor disorders.

2011

Several recent studies have emphasized a crucial role for the nitrergic system in movement control and the pathophysiology of the basal ganglia (BG). These observations are supported by anatomical evidence demonstrating the presence of nitric oxide synthase (NOS) in all the basal ganglia nuclei. In fact, nitrergic terminals have been reported to make synaptic contacts with both substantia nigra dopamine-containing neurons and their terminal areas such as the striatum, the globus pallidus and the subthalamus. These brain areas contain a high expression of nitric oxide (NO)-producing neurons, with the striatum having the greatest number, together with important NO afferent input. In this pape…

Cerebellar magnetic stimulation decreases levodopa-induced dyskinesias in Parkinson disease

2009

BACKGROUND: The neural mechanisms and the circuitry involved in levodopa-induced dyskinesia (LID) are still partially obscure. LID can be considered the consequence of an abnormal pattern or code of activity that originates and is conveyed from the basal ganglia to the thalamus and the cortical motor areas. However, not only striatothalamocortical motor circuits but also other interconnected pathways could be implicated in its pathogenesis. METHODS: In a series of experiments, we applied repetitive transcranial magnetic stimulation (rTMS) over the lateral cerebellum in a group of patients with advanced Parkinson disease, to investigate whether modulation of cerebellothalamocortical circuits…

Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia

2021

Abstract Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. Methods This was a multicenter cross-sectional study of patients with a high suspicion of PCD according to European Respiratory Society criteria. We designed a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. Results We includ…

Pregabalin as add-on treatment to botulinum toxin in idiopathic hemifacial spasm

2007

Botulinum toxin (BTX) is the medical therapy of choice in hemifacial spasm (HFS). However, in some patients, its therapeutic effect is insufficient. ### Patient 1. A 64-year-old man with a 10-year history of left-sided HFS was treated with BTX over a period of 6 years with good results. However, in the last 2 years the spasms were never sufficiently relieved by BTX. The patient felt significantly impaired, but declined to undergo neurosurgical intervention. The EDB test showed a decrease in the CMAP amplitude of 60%. Without changing the BTX regime, pregabalin (initially 75 mg/day increased every 5 days by 75 mg to 150 mg twice daily) was added for a 1-month trial period in the absence of a…

Improvement of wound healing after hemorrhoidectomy: a double-blind, randomized study of botulinum toxin injection.

2005

PURPOSE: Hemorrhoidectomy is usually associated with significant pain during the postoperative period. The spasm of the internal sphincter seems to play in important role in the origin of pain. This study was designed to evaluate the effectiveness of intrasphincter injection of botulinum toxin after hemaorrhoidectomy in reducing the maximum testing pressure of the anal canal, accelerating wound healing, and decreasing postoperative pain when resting and during defecation. METHODS: Thirty patients with hemorrhoids of third and fourth degree were included in the study and randomized in two groups. Anorectal manometry was performed preoperatively and 5 and 30 days afterward ill all patients un…

Cognitive impairment and levodopa induced dyskinesia in Parkinson’s disease: a longitudinal study from the PACOS cohort

2021

AbstractAim of the study was to evaluate possible associations between cognitive dysfunctions and development of Levodopa Induced Dyskinesia (LID). PD patients from the Parkinson’s disease Cognitive impairment Study cohort who underwent a baseline and follow-up neuropsychological evaluations were enrolled. Mild Cognitive Impairment (PD-MCI) was diagnosed according to MDS level II criteria. The following cognitive domains were evaluated: episodic memory, attention, executive function, visuo-spatial function and language. A domain was considered as impaired when the subject scored 2 standard deviation below normality cut-off values in at least one test for each domain. Levodopa equivalent dos…

2021

IntroductionPrimary ciliary dyskinesia (PCD) is a rare, genetic, multiorgan disease with an estimated prevalence of 1 in 10 000. It affects mainly the upper and lower airways due to impaired mucociliary clearance. Almost all patients have sinonasal or otologic (ear–nose–throat, ENT) problems, although the ENT clinical phenotype may present great variability. Despite that, data on PCD ENT manifestations are scarce and based on small single-centre studies. To date, we know little about the spectrum and severity of PCD ENT disease, its association with lung disease, its course over life and its determinants of prognosis.This study protocol describes the aims and methods of the first prospectiv…

Alterations in striatal neuropeptide mRNA produced by repeated administration of L-DOPA, ropinirole or bromocriptine correlate with dyskinesia induct…

2002

Chronic administration of L-DOPA to MPTP-treated common marmosets induces marked dyskinesia while repeated administration of equivalent antiparkisonian doses of ropinirole and bromocriptine produces only mild involuntary movements. The occurrence of dyskinesia has been associated with an altered balance between the direct and indirect striatal output pathways. Using in situ hybridisation histochemistry, we now compare the effects of these drug treatments on striatal preproenkephalin-A (PPE-A) and adenosine A(2a) receptor mRNA expression as markers of the indirect pathway and striatal preprotachykinin (PPT) mRNA and preproenkephalin-B (PPE-B, prodynorphin) mRNA expression as markers of the d…