Search results for "Axia"

Cerebellar granule-cell-specific GABAAreceptors attenuate benzodiazepine-induced ataxia: evidence from α6-subunit-deficient mice

1999

Benzodiazepine- and alcohol-induced ataxias in rodents have been proposed to be affected by the gamma-aminobutyric acid type A (GABAA) receptor alpha 6 subunit, which contributes to receptors specifically expressed in cerebellar granule cells. We have studied an alpha 6 -/- mouse line for motor performance and drug sensitivity. These mice, as a result of a specific genetic lesion, carry a precise impairment at their Golgi-granule cell synapses. On motor performance tests (rotarod, horizontal wire, pole descending, staircase and swimming tests) there were no robust baseline differences in motor function or motor learning between alpha 6 -/- and alpha 6 +/+ mice. On the rotarod test, however,…

Agreement between 2 swept-source OCT biometers and a Scheimpflug partial coherence interferometer

2020

PURPOSE To evaluate the agreement between different parameters obtained with 2 swept-source optical coherence tomography (SS-OCT)-based biometers and 1 Scheimpflug camera with partial coherence interferometry (PCI). SETTING Single center, Oftalvist, Alicante, Spain. DESIGN Prospective case series. METHODS Biometry was performed in 49 eyes using 3 optical biometers: ANTERION SS-OCT, IOLMaster 700 SS-OCT, and Pentacam AXL PCI. Keratometry (K), J0 and J45 vectors, anterior chamber depth (ACD), central corneal thickness (CCT), white-to-white (WTW), lens thickness (LT), and axial length (AL) were measured with each device. Bland-Altman analysis was applied. RESULTS This study comprises 49 eyes o…

Comparison of physical activity and sedentary behaviours between young haemophilia A patients and healthy adolescents

2011

In recent studies, adolescent haemophilia A patients and healthy adolescents have been encouraged to participate in physical activity (PA) based on its many established health benefits. However, none of the studies to date has used objective measures of PA and sedentary behaviour. The aims of the current study included: (i) to determine the amount and intensity of habitual PA among haemophilia A and healthy adolescents, and in haemophilia A patients with and without bleeding episodes in the previous year, and (ii) to identify the type and determine the time spent in sedentary activities in which both groups participate to obtain a broadened view of their daily activities. A total of 41 adol…

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

2020

ObjectiveTo define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.MethodsPatients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/−) to determine the sequence of events in seizure-related cardiac death.ResultsNinety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities…

Axial propeller flaps: A proposal for update of the "Tokyo consensus on propeller flaps".

2017

LETTER TO EDITOR

Inpatient Step Counts, Symptom Severity, and Perceived Health Status After Lung Resection Surgery.

2020

BACKGROUND The clinical relevance of inpatient step counts after lung surgery remains unknown. OBJECTIVE The aim of this study was to identify those factors related to physical activity measured by step count, during the inpatient stay, and its relationship with symptom severity and perceived health status at hospital admission, discharge, and 1 month after discharge. METHODS We studied the inpatient step count of 73 participants who underwent lung resection surgery. The number of steps was measured using a triaxial accelerometer. The health status and the severity of symptoms were examined at hospital admission, discharge, and 1 month after discharge. RESULTS Of the 73 participants, 35 wer…

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12

2011

A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical of AT such as frequent, severe infections of the respiratory tract. In contrast, she showed symptoms not generally related to AT, including microcephaly, profound motor and mental retardation, small hands and feet, severely and progressively reduced muscle tone with slackly protruding abdomen and undue drooling, excess fat on her upper arms, and severe oligoarthritis. A cranial…

2021

Introduction Niemann-Pick type C (NPC) is a lysosomal storage disease that is progressive and life-limiting, with an estimated incidence of 1:120,000 live births. In addition to systemic manifestation with (hepato-)splenomegaly, there are a number of neurological manifestations (ataxia, dysarthria, dementia, cataplexy, epileptic seizures, and psychiatric disorders). Characteristic is vertical supranuclear gaze palsy, which is often overlooked. Early diagnosis and start of therapy improve quality of life. This study aimed to characterize oculomotor dysfunction of NPC patients, and to provide ophthalmologic data including retinal imaging. Methods Eighteen patients with biochemically or genet…

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

2021

Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with biallelic pathogenic SPG7 mutations. Mean age at onset was 37.4 years (SD ± 14.3). The most frequent phenotype was spastic ataxia (57%), followed by pure spastic paraplegia (19%) and complex phenotypes (19%). Isolated patients presented with focal or multifocal dystonia, subclinical myopat…

Vertigo and multiple sclerosis: aspects of differential diagnosis.

2002

Equilibrium disorders caused by involvement of brainstem and cerebellar structures are common in patients with multiple sclerosis (MS), but peripheral conditions such as benign paroxysmal positional vertigo (BPPV) can be sometimes confused with those of a central origin. Therefore, an accurate otoneurologic investigation paying attention to differential diagnosis aspects should be performed in these subjects. Among available diagnostic tools, electro-oculography, posturography and vestibular evoked myogenic potentials (VEMPs) are especially suited to assess vestibulo-oculomotor and vestibulospinal systems. This paper briefly describes the most recent otoneurologic diagnostic strategies for …