Search results for "Axia"

Effect of contact lenses on ocular biometric measurements based on swept-source optical coherence tomography

2019

ABSTRACT Purpose: To determine the reliability of swept- source optical coherence tomography in cases in which soft contact lenses cannot be removed when acquiring biometric measurements. Methods: Eight subjects were included and only one eye per participant was analyzed. Each eye was measured six times by swept-source optical coherence tomography with the IOLMaster 700 instrument (Carl Zeiss Meditec, Jena, Germany). Axial length, central corneal thickness, anterior chamber depth, lens thickness, and keratometric measurements were evaluated for the naked eye and while wearing soft contact lenses of three different powers (-1.5, -3.0, and +2.0 D). Results: There were statistically significan…

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

2000

Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…

"Only Spinal Fixation" as Surgical Treatment of Cervical Myelopathy Related to Ossified Posterior Longitudinal Ligament: Review of 52 Cases.

2020

Background Ossification of the posterior longitudinal ligament (OPLL) is a hyperostotic condition resulting in a progressive narrowing of the spinal canal and subsequent neurologic deficits. Although systemic and local factors in combination with genetic abnormality have been considered in its etiopathogenesis, OPLL remains a poorly understood pathology. Surgical management of OPLL and the choice of the most appropriate treatment are still controversial issues. Here the authors report a series of OPLL-affected patients treated by “only-fixation” technique. Methods Between June 2012 and June 2019, 52 patients having OPLL were treated by a surgical strategy involving only spinal fixation with…

Stability of the upper neck during isometric neck exercises in rheumatoid arthritis patients with atlantoaxial disorders.

2008

To study the effect of isometric neck strength exercises on upper cervical stability in patients with rheumatoid arthritis (RA).Twenty patients with a mean (SD) age of 58 (9) years and duration of RA of 27 (10) years volunteered for the study. Lateral radiographs of the cervical spine were taken to measure the current atlantoaxial distance (AAD) in flexion and extension. Maximal isometric neck flexion and extension strength values were measured by a dynamometer. Thereafter, AADs were measured from radiographs taken at 80-90% resistance of maximal strength.According to the full flexion radiographs at baseline, the patients were classified into three groups: eight patients without anterior at…

Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients

2017

AbstractMicroRNAs (miRNAs) are noncoding RNAs that contribute to gene expression modulation by regulating important cellular pathways. In this study, we used small RNA sequencing to identify a series of circulating miRNAs in blood samples taken from Friedreich’s ataxia patients. We were thus able to develop a miRNA biomarker signature to differentiate Friedreich’s ataxia (FRDA) patients from healthy people. Most research on FDRA has focused on understanding the role of frataxin in the mitochondria, and a whole molecular view of pathological pathways underlying FRDA therefore remains to be elucidated. We found seven differentially expressed miRNAs, and we propose that these miRNAs represent …

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

2018

Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

2009

Background: Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes, SPG11 ( spatacsin ) and SPG15 ( spastizin ), associated with autosomal recessive HSP, were identified. Clinically, both are characterised by complicated HSP and a rather similar phenotype consisting of early onset spastic paraplegia, cognitive deficits, thin corpus callosum (TCC), peripheral neuropathy and mild cerebellar ataxia. Objective: To compare the frequency of SPG11 and SPG15 in patients with early onset complicated HSP and to further characterise the phenotype of SPG11 and SPG15. Results: A sample of 36 index patients with early onset complicated HSP and …

Cardiac involvement in Friedreich's ataxia: our experience.

2009

Repeatability assessment of biometric measurements with different refractive states and age using a swept-source biometer

2018

Background We aim to assess if refractive error or age may influence the repeatability of measurements using a swept-source biometer. Methods A total of 61 subjects were evaluated with IOLMaster 700 acquiring measurements of axial length (AL), central corneal thickness (CCT), white-to-white distance (WTW), anterior aqueous depth (AQD), lens thickness (LT), and keratometry (K) readings. Repeatability was evaluated classifying the sample according to the refractive state and age by the calculation of the within-subject standard deviation (Sw), coefficient of repeatability, and intraclass correlation coefficient. Results Very similar Sw was acquired among groups for AL, CCT, and WTW. Differenc…

Association of Low Birth Weight With Altered Corneal Geometry and Axial Length in Adulthood in the German Gutenberg Health Study

2019

IMPORTANCE: Low birth weight is associated with altered ocular organ development in childhood, including the morphology of the eye. However, no population-based data exist about this association in adulthood. OBJECTIVE: To evaluate whether low birth weight has a long-term association with anterior segment anatomy and axial length in adulthood. DESIGN, SETTING, AND PARTICIPANTS: The Gutenberg Health Study is a population-based, observational cohort study in Germany. All participants underwent ocular biometry. Among the participants with follow-up and self-reported birth weight available, associations were assessed between low birth weight and anterior segment anatomy and axial length using m…