Search results for "SENSORY DISORDERS"
showing 10 items of 37 documents
Postoperative Repositioning of Inverted Descemet Membrane Endothelial Keratoplasty Grafts
2019
Item does not contain fulltext PURPOSE: To present 4 cases of postoperative repositioning of inverted grafts after Descemet membrane endothelial keratoplasty (DMEK). METHODS: Retrospective case reports of 4 patients presenting with subtotal to total graft detachment after DMEK, most probably owing to upside-down graft positioning. Graft repositioning was performed 1 to 14 days after initial DMEK surgery. In 3 cases (cases 1, 3, and 4), repositioning was performed without removing the graft from the anterior chamber (AC), whereas for case 2, the graft had to be removed from the AC to attain correct graft orientation. RESULTS: In all 4 cases, the initially upside-down DMEK grafts could be suc…
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
2017
Item does not contain fulltext Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequ…
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebel…
2018
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgene…
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
2007
Contains fulltext : 53618.pdf (Publisher’s version ) (Closed access) Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photore…
Can loss of sensory attenuation be accurately demonstrated using two effectors simultaneously?
2015
Sir, Recently, Parees and colleagues (2014) compared patients with functional (psychogenic) movement disorders and healthy subjects who were asked to match a force delivered to their left finger by pressing on it directly, or by operating a joystick to press down on it, with the other hand. They observed that healthy subjects generated more force than required when pressing directly on their finger (compared with using the joystick), whereas patients did not. They interpreted and discussed this result as a loss of sensory attenuation that typically occurs in healthy subjects during self-generated movements and suggested by return, that it illustrates an altered sense of agency for the patie…
MOTOR DYSFUNCTION OF THE "NON AFFECTED" LOWER LIMB: A KINEMATIC COMPARATIVE STUDY BETWEEN HEMIPARETIC STROKE AND TOTAL KNEE PROSTHESIZED PATIENTS
2009
In patients with hemispheric stroke, abnormal motor performances are described also in the ipsilateral limbs. They may be due to a cortical reorganization in the unaffected hemisphere; moreover, also peripheral mechanisms may play a role. To explore this hypothesis, we studied motor performances in 15 patients with hemispheric stroke and in 14 patients with total knee arthroplasty, which have a reduced motility in the prosthesized leg. Using the unaffected leg, they performed five superimposed circular trajectories in a prefixed pathway on a computerized footboard, while looking at a marker on the computer screen. The average trace error was significantly different between the groups of pat…
Incidence of oral health in paediatric patients with disabilities: Sensory disorders and autism spectrum disorder. Systematic review II
2016
Introduction We are currently witnessing an increase in the number of disabled patients, creating the need for knowledge of each of the pathologies and of the different oral and dental conditions they present, in order to achieve efficient management and treatment. Objectives To analyse the existing scientific literature on the oral conditions of children with autism spectrum disorder (ASD) and children with sensory deficits (SD), in comparison with the healthy child population. Material and Methods The bibliographic search was carried out in Pubmed/Medline, Scopus and Cochrane Library and included articles taking a sample of children between 0 and 18 years of age diagnosed with the aboveme…
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
2016
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases. Two hundred and seventeen tagged human ciliary proteins create a final landscape of 1,319 proteins, 4,905 interactions and 52 complexes. Reverse tagging, repetition of purifications and statistical analyses, produce a high-resolution network that reveals organelle-specific interactions and complexes not apparent in larger studies, and links vesicle transport, the cytoskeleton, signalling and ubiquitination to ciliary signalling and proteostasis. We observe sub…
CiliaCarta: An integrated and validated compendium of ciliary genes
2019
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse…
Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa
2021
Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) with an overall prevalence of 1 in 4000 individuals. Mutations in EYS (Eyes shut homolog) are among the most frequent causes of non-syndromic autosomal recessively inherited RP and act via a loss-of-function mechanism. In light of the recent successes for other IRDs, we investigated the therapeutic potential of exon skipping for EYS-associated RP. CRISPR/Cas9 was employed to generate zebrafish from which the region encompassing the orthologous exons 37-41 of human EYS (eys exons 40-44) was excised from the genome. The excision of these exons was predicted to maintain the open reading frame and to result in the removal of exactl…