Search results for "dyskinesia"
showing 10 items of 60 documents
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…
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutat…
2008
Monocarboxylate transporter 8 (MCT8 or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular hypertonia at his current age of 9 years. Additionally, the patient has a lesion in the left putamen region revealed by magnetic resonance imaging and elevated serum T3 levels. The male appeared to have a hemizygous mutation (R271H)…
Primary ciliary dyskinesia and psychological well-being in adolescence.
2020
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease with low prevalence in pediatrics. Health studies have not sufficiently analyzed the role of psychological variables in rare diseases such as PCD. This paper studies the psychological characteristics of a group of pediatric patients diagnosed with PCD compared to their healthy peers. The sample consisted of 48 preadolescents-adolescents, aged 9-18 years (M = 12.96; SD = 2.71), with similar distribution by sex, and 25% of the patients having dyskinesia. Clinical anxiety-depression, self-esteem and psychological well-being were evaluated using questionnaires: the Adolescent Psychological Well-being Scale (BIEPS-J), the Hos…
Midventricular dyskinesia during clozapine treatment?
2009
This is the case of a young man suffering from schizophrenia and treated with clozapine. He developed acute heart failure associated with pericardial effusion and midventricular dyskinesia with severe systolic dysfunction and left ventricular dilatation at echocardiogram, readily resolved after the suspension of clozapine therapy. The segmental wall motion abnormalities observed at echocardiogram in this case are peculiar and have never been described before. The possible cardiotoxic effects of clozapine have been reported previously in the literature. Because of its serious potential side effects this drug is not considered the first choice for treatment of schizophrenia. Before beginning …
Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?
2022
Diagnosis testing for primary ciliary dyskinesia (PCD) requires a combination of investigations that includes study of ciliary beat pattern by high-speed video-microscopy, genetic testing and assessment of the ciliary ultrastructure by transmission electron microscopy (TEM). Historically, TEM was considered to be the “gold standard” for the diagnosis of PCD. However, with the advances in molecular genetic techniques, an increasing number of PCD variants show normal ultrastructure and cannot be diagnosed by TEM. During ultrastructural assessment of ciliary biopsies of patients with suspicion of PCD, we observed an axonemal defect not previously described that affects peripheral doublets tilt…
Impact of Minimally Invasive Surgery in the Spectrum of Current Achalasia Treatment Options
2011
Minimally invasive Heller myotomy has evolved the “gold standard” procedure for achalasia in the spectrum of current treatment options. The laparoscopic technique has proved superior to the thoracoscopic approach due to improved visualization of the esophagogastric junction. Operative controversies most recently include the length of the myotomy, especially of its fundic part, with respect to the balance between postoperative persistent dysphagia and development of gastroesophageal reflux, as well as the type of the added antireflux procedure. Perioperative mortality should approach 0%, and favorable long-term results can be achieved in > 90%.
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
2020
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspic…
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…
Primary ciliary dyskinesia. Ciliopathies
2008
Abstract Primary ciliary dyskinesia is a genetically inherited syndrome characterised by ciliary immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections from birth, male sterility by spermatozoid immotility and situs inversus in 40%–50% of patients (Kartagener's syndrome). Diagnosis is made by analysing ciliary motility with high-speed digital video and ciliary ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia.