Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

ConclusionWe speculate that theDRC1 deletion is a recurrent or perhaps founder mutation in Asians. The simple PCR method could be a useful screening tool.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Conditions:   Primary Ciliary Dyskinesia;   Cystic Fibrosis Interventions:   Other: Measurement of functional capacity;   Other: pulmonary function test;   Other: Functional capacity;   Other: Peripheral muscle strength;   Other: Respiratory muscle strength Sponsor:   Bezmialem Vakif University Not yet recruiting
Source: - Category: Research Source Type: clinical trials
ConclusionFor the first time, we described the PKD phenotype in association with CTA/CTG expansion, suggesting that CTA/CTG expansion might play a role in the pathogenesis of paroxysmal dyskinesia symptoms.
Source: Journal of Neurology - Category: Neurology Source Type: research
ConclusionPCD caused by theDRC1 defect is not readily identified by either high ‐speed video‐microscopy or ciliary ultrastructure analysis, posing significant difficulties in reaching a correct diagnosis without the aid of genetic tests. Careful investigation of the causes of sinopulmonary diseases is warranted in Asian populations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Doušová T, Pohunek P Abstract BACKGROUND: Bronchial epithelial reticular basement membrane (RBM) thickening occurs in diseases with both eosinophilic [allergic bronchial asthma (AB)] and neutrophilic [cystic fibrosis (CF), primary ciliary dyskinesia (PCD)] chronic airway inflammation; however, lung function and airway remodelling relationship remains unclear. The aim of the study was to test whether ventilation inhomogeneity is related to RBM thickening. METHODS: Multiple breath washout test, endobronchial biopsy, and bronchoalveolar lavage were performed in 24 children with CF, 11 with PCD, 15...
Source: Chest - Category: Respiratory Medicine Authors: Tags: Chest Source Type: research
This case presented by Agin-Liebes and colleagues demonstrates how the clinical phenotype of a patient with LRRK2-related Parkinson's disease (PD) due to p.G2019S mutation can be indistinguishable from idiopathic PD. To date, at least 3 large studies have compared the clinical features of LRRK2 G2019S PD (N  = 97 to 516 subjects) and idiopathic PD [1–3]. These features included age-of-onset, motor features, cognitive impairment, depression, other non-motor features, levodopa response, and dyskinesia.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
Abstract Abnormal dopaminergic modulation of the cortico-basal ganglia motor loops results in the emergence of levodopa-induced dyskinesia (LID). We focused on alterations in the gray matter (GM) volume and the cortical thickness of the brain, especially in cortico-basal ganglia motor loops, in Parkinson's disease (PD) with diphasic dyskinesia. 48 PD patients with diphasic dyskinesia, 60 PD patients without dyskinesia and 48 healthy controls (HC) were included. Voxel-based morphometry (VBM) was applied to get GM images from MRI brain images. FreeSurfer was used to get cortical thickness. Distinct analyses of covar...
Source: Aging - Category: Biomedical Science Authors: Tags: Aging (Albany NY) Source Type: research
Pharmacogenomics, Ahead of Print.
Source: Future Medicine: Pharmacogenomics - Category: Genetics & Stem Cells Authors: Source Type: research
In this study, an accurate, sensitive, and selective analytical method was developed and successfully applied to assess the pharmacokinetic behavior of trepibutone in rats. Trepibutone and carbamazepine (internal standard, IS) were quantified using multiple reaction monitoring (MRM) mode with the transitions of m/z 311.09→265.08 and m/z 237.06→194.08, respectively. The linearity, precision, accuracy, extraction recovery, matrix effect, and stability of the established method were all excellent within acceptable range. A total of 30 metabolites were identified in plasma and urine by Q-Exactive high resolution mass...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 1 November 2019Source: NeuroscienceAuthor(s): Rita L. Vaz, Diana Chapela, Joana E. Coelho, Luísa V. Lopes, Joaquim J. Ferreira, Nuno D. Afonso, Sara Sousa, Tiago F. OuteiroAbstractThe motor features in Parkinson’s disease (PD) are associated with the degeneration of dopaminergic cells in the substantia nigra in the brain. Thus, the gold-standard in PD therapeutics still consists of dopamine replacement with levodopa. However, as the disease progresses, this therapeutic option becomes less effective and can be accompanied by levodopa-induced complications. On the other hand, s...
Source: Neuroscience - Category: Neuroscience Source Type: research
This article summarizes our knowledge about a new third-generation COMT inhibitor, namely opicapone (OPC) (Search period: 2016-2019). The authors detail the pharmacological profile of OPC and summarize the results of completed clinical trials. In addition, they briefly summarize the achievements of the past few years.Expert opinion: Based on clinical trials conducted so far, OPC is an effective and safe new drug. In comparison to entacapone and tolcapone, it does not require close laboratory monitoring or multiple oral administrations, which may result in better adherence. No serious adverse event was reported during the d...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
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