Search results for "Axia"
showing 10 items of 638 documents
Altered lipid metabolism in a Drosophila model of Friedreich's ataxia
2010
13 páginas, 5 figuras.-- et al.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurologi…
2019
Abstract KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, and pathogenic gain-of-function variants in this gene have been associated with a dominant form of generalized epilepsy and paroxysmal dyskinesia. Here, we genetically and functionally characterize eight novel loss-of-function (LoF) variants of KCNMA1. Genome or exome sequencing and the participation in the international Matchmaker Exchange effort allowed for the identification of novel KCNMA1 variants. Patch clamping was used to assess functionality of mutant BK channels. The KCNMA1 variants p.(Ser351Tyr), p.(Gly356Arg), p.(Gly375Arg), p.(Asn449fs) and p.(Ile663Val) abolished the …
Immunological investigations in two brothers with ataxia telangiectasia Louis-Bar
1976
Two of three brothers with the classical signs of ataxia telangiectasia were investigated for their immunological disorders at the ages of 13 and 16 years, respectively. The elder brother also suffers from autoimmune hemolytic anemia, a complication which has not yet been described in the course of ataxia telangiectasia. Immunological investigations made in both brothers showed a reduction in the number and function of T lymphocytes. The number of B lymphocytes was normal, among which there were cells staining for IgA, although serum IgA was absent. It seems possible that this phenomenon is caused by a disturbance in the process of maturation of lymphoid cells with a lack of differentiation…
Agreement between intraoperative anterior segment spectral-domain OCT and 2 swept-source OCT biometers.
2021
Purpose: To evaluate the agreement of different biometric parameters obtained using intraoperative spectral-domain optical coherence tomography (SD-OCT) and two swept-source optical coherence tomog...
Complications in Craniovertebral Junction Instrumentation: Hardware Removal Can Be Associated with Long-Lasting Stability. Personal Experience
2017
Background The causes of craniovertebral junction (CVJ) instabilities include trauma, rheumatological diseases, tumors, infections, congenital malformations, and degenerative disease processes; these complex pathologies often require CVJ instrumentation. Hardware complications were analyzed in a personal series of 48 treated patients. In light of the analysis of very unusual radiological and clinical findings, the authors tried to better investigate the related mechanisms and to reach possible useful conclusions. Methods In a series of 48 patients who underwent CVJ instrumentation and fusion procedures in our Institution, we describe three cases of hardware failure, due to: (1) infection; (…
Efficacy and safety of decompressive craniectomy with non-suture duraplasty in patients with traumatic brain injury.
2020
AbstractBackgroundDecompressive craniectomy is an important surgical treatment for patients with severe traumatic brain injury (TBI). Several reports have been published on the efficacy of non-watertight sutures in duraplasty performed in decompressive craniectomy. This study aims to evaluate the effectiveness of dura closure without sutures (non-suture duraplasty) in decompressive craniectomy for TBI.MethodsOne hundred and six patients were enrolled at a single trauma center between January 2017 and December 2018. We retrospectively collected the data and classified the patients into non-suture and suture duraplasty craniectomy groups. We compared the characteristics of patients and their …
SPG10 is a rare cause of spastic paraplegia in European families.
2008
Contains fulltext : 71099.pdf (Publisher’s version ) (Closed access) BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype. PATIENTS AND METHODS: 80 index patients from families with autosomal dominant HSP were investigated for SPG10 mutations by direct sequencing of the KIF5A motor domain. Additionally, the whole gene was sequenced in 20 of these families. RESULTS: Th…
Functional and Prognostic Implications of the Main Pulmonary ArteryDiameter to Aorta Diameter Ratio from Chest Computed Tomography inKorean COPD Pati…
2016
Background The ratio of the diameter of the main pulmonary artery (mPA) to the diameter of the aorta (Ao) on chest computed tomography is associated with diverse clinical conditions. Herein, we determined the functional and prognostic implications of the mPA/Ao ratio in Korean chronic obstructive pulmonary disease (COPD) patients. Methods The study population comprised 226 chronic obstructive pulmonary disease patients from the Korean Obstructive Lung Disease cohort who underwent chest computed tomography. We analyzed the relationships between the clinical characteristics, including pulmonary function, echocardiography findings, St. George's Respiratory Questionnaire, 6-minute walking (6MW)…
A method for automatic forensic facial reconstruction based on dense statistics of soft tissue thickness.
2019
In this paper, we present a method for automated estimation of a human face given a skull remain. The proposed method is based on three statistical models. A volumetric (tetrahedral) skull model encoding the variations of different skulls, a surface head model encoding the head variations, and a dense statistic of facial soft tissue thickness (FSTT). All data are automatically derived from computed tomography (CT) head scans and optical face scans. In order to obtain a proper dense FSTT statistic, we register a skull model to each skull extracted from a CT scan and determine the FSTT value for each vertex of the skull model towards the associated extracted skin surface. The FSTT values at p…
Association of ocular, cardiovascular, morphometric and lifestyle parameters with retinal nerve fibre layer thickness.
2017
BACKGROUND Glaucoma is a neurodegenerative disease, leading to thinning of the retinal nerve fibre layer (RNFL). The exact influence of ocular, cardiovascular, morphometric, lifestyle and cognitive factors on RNFL thickness (RNFLT) is unknown and was analysed in a subgroup of the Gutenberg Health Study (GHS). METHODS Global peripapillary RNFLT was measured in 3224 eyes of 1973 subjects (49% female) using spectral-domain optical coherence tomography (SD-OCT). The association of age, sex, ocular, cardiovascular, morphometric, lifestyle and cognitive factors on RNFLT was analysed using Pearson correlation coefficient and fitting a linear mixed model. RESULTS In the univariable analysis highest…