Search results for "Kinesia"

New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.

2012

Background Primary ciliary dyskinesia (PCD) is a congenital hereditary disease affecting 1/20,000–60,000 people that causes chronic sinusitis, bronchiectasis, sinus hypoplasia, secretory otitis media, and low fertility. The complexity and heterogeneity of the disease make diagnosis difficult. Although the genetic origin of PCD is clear, mutations in only five genes have been associated with the disease, and, to date, no disease-causing gene has been identified. Recently, low levels of AK7 gene expression have been linked to PCD. This study was designed to determine the mutational status of the AK7 gene in 31 PCD (17 PCD and 14 Kartagener syndrome diagnosed) patients compared with 40 healthy…

Segmental dyskinesia in Wolff–Parkinson–White syndrome: A possible cause of dilatative cardiomyopathy

2006

Wolff-Parkinson-White (WPW) is a syndrome characterized by the presence of an accessory pathway that skipping A-V node may lead the electrical stimulus from the atrium directly to the ventricle. Some studies reported the finding of myocardial dyskinesia in the segments precociously activated by the accessory pathway, at echocardiogram and at nuclear cardiac study. Soria et al. reported, in 1985, an increased incidence of dilative cardiomyopathy in patients with WPW. The pathophysiological pathway that leads to ventricular dilation may be due to the increase of end-diastolic pressure secondary to a tachycardia-induced cardiomyopathy. Tachycardia-induced cardiomyopathy is usually secondary to…

Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.

2010

Background Adenylate kinase 7 (AK7) mediates the reaction 2ADP ↔ ATP + AMP, providing energy for the beating of cilia. A study recently showed that AK7 expression may be correlated with the primary ciliary dyskinesia (PCD) phenotype in mice. In this study, we characterized AK7 expression in vitro in an air–liquid interface (ALI) model and in middle nasal turbinate biopsy specimens from a cohort of patients with PCD to elucidate whether AK7 expression is correlated with ciliary malfunction. Methods AK7 expression was measured by real-time reverse-transcription polymerase chain reaction and Western blotting. In vitro differentiated nasal human epithelial cell siRNA experiments were performed …

Dyskephalie-Katarakt-Hypotrichose-Syndrom (Synonyma: DCH; Ullrich-Fremerey-Dohna; Hallermann-Streiff; Francois)

1976

In a 43-year-old man dyscephalia, cataracta congenita, and hypotrichosis were the outstanding features. These signs were first described in 1953 by Ullrich and Fremerey-Dohna as a clinical entity. Since 1958 the DCH syndrome was published under the synonyms of “Francois syndrome” and of “Hallermann-Streiff syndrome”. However, as these authors did not add any essential details relevant for the classification of the syndrome we prefer to retain the term “Ullrich-Fremerey-Dohna syndrome”. In our case in addition to the above mentioned and well known manifestations, extrapyramidal hyperkinesia of the choreoanthetotic type and servere mental deficiency accompanied by mild cerebral atrophy (revea…

RISK FACTORS FOR DYSKINESIAS IN PATIENTS WITH PARKINSON'S DISEASE

2011

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…

Both Short- and Long-Acting D-1/D-2 Dopamine Agonists Induce Less Dyskinesia than l-DOPA in the MPTP-Lesioned Common Marmoset (Callithrix jacchus)

2002

Abstract The current concept of dyskinesia is that pulsatile stimulation of D-1 or D-2 receptors by l -DOPA or short-acting dopamine agonists is more likely to induce dyskinesia compared to long-acting drugs producing more continuous receptor stimulation. We now investigate the ability of two mixed D-1/D-2 agonists, namely pergolide (long-acting) and apomorphine (short-acting), to induce dyskinesia in drug-naive MPTP-lesioned primates, compared to l -DOPA. Adult common marmosets ( Callithrix jacchus ) were lesioned with MPTP (2 mg/kg/day sc for 5 days) and subsequently treated with equieffective antiparkinsonian doses of l -DOPA, apomorphine, or pergolide for 28 days. l -DOPA, apomorphine, …

GDNF reverses priming for dyskinesia in MPTP-treated, L-DOPA-primed common marmosets

2001

Parkinson's disease (PD) is associated with a progressive loss of dopamine neurons in the substantia nigra and degeneration of dopaminergic terminals in the striatum. Although L-DOPA treatment provides the most effective symptomatic relief for PD it does not prevent the progression of the disease, and its long-term use is associated with the onset of dyskinesia. In rodent and primate studies, glial cell line-derived neurotrophic factor (GDNF) may prevent 6-OHDA- or MPTP-induced nigral degeneration and so may be beneficial in the treatment of PD. In this study, we investigate the effects of GDNF on the expression of dyskinesia in L-DOPA-primed MPTP-treated common marmosets, exhibiting dyskin…

Correction: The genomic and clinical landscape of fetal akinesia

2020

Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?

2020

Gene therapy is an alternative therapy in many respiratory diseases with genetic origin and currently without curative treatment. After five decades of progress, many different vectors and gene editing tools for genetic engineering are now available. However, we are still a long way from achieving a safe and efficient approach to gene therapy application in clinical practice. Here, we review three of the most common rare respiratory conditions—cystic fibrosis (CF), alpha-1 antitrypsin deficiency (AATD), and primary ciliary dyskinesia (PCD)—alongside attempts to develop genetic treatment for these diseases. Since the 1990s, gene augmentation therapy has been applied in multiple clinical tria…