Search results for "DEGENERATION"
showing 10 items of 601 documents
Wilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries
2021
[ES] Objetivo: Evaluar las fuentes de información empleadas por los Registros Autonómicos de Enfermedades Raras (RAER) para la captación de la enfermedad de Wilson en España, calcular su prevalencia y mortalidad, y describir las características sociodemográficas de las personas afectadas. Método: Estudio epidemiológico transversal, periodo 2010-2015. Se captaron los posibles casos mediante los códigos 275.1 (CIE-9-MC), E83.0 (CIE-10) y 905 ORPHA en 15 RAER y el Registro de Pacientes de Enfermedades Raras del Instituto de Salud Carlos III. Los diagnósticos fueron validados revisando la documentación clínica. Se calcularon el valor predictivo positivo (VPP) de las fuentes de información, la p…
Cervical Spondylotic Myelopathy: When and Why the Cervical Corpectomy?
2020
Background: Cervical spondylotic myelopathy (CSM) is a degenerative disease that represents the most common spinal cord disorder in adults. The best treatment option has remained controversial. We performed a prospective study to evaluate the clinical, radiographic, and neurophysiologic outcomes for anterior cervical corpectomy in the treatment of CSM. Methods: From January 2011 to January 2017, 60 patients with CSM were prospectively enrolled in the present study. The patients were divided according to the modified Japanese Orthopaedic Association scale (mJOA) score into 2 groups: group A, patients with mild to moderate CSM (mJOA score ≥13); and group B, patients with severe myelopathy (mJ…
Association of low birth weight with myopic refractive error and lower visual acuity in adulthood: results from the population-based Gutenberg Health…
2017
PurposeLow birth weight (BW) is linked to impaired organ development in childhood, including altered ocular morphological and functional development. The aim of this study was to evaluate whether low BW has long-term effects on visual acuity and refraction in adulthood.MethodsThe Gutenberg Health Study is a population-based, observational cohort study in Germany, including 15 010 participants aged between 35 and 74 years. These participants were divided into three different BW groups (low: <2500 g; normal: between 2500 and 4000 g; and high: >4000 g). Best-corrected visual acuity and objective refraction were examined. We used multivariable linear regression models with adjustment for …
Prevalence of myopic maculopathy in the German population: results from the Gutenberg health study.
2019
AimsTo determine the prevalence of myopic maculopathy in the general population in Germany and to analyse potential associations with ocular and systemic factors.DesignThe Gutenberg Health Study is a population-based study, including 15 010 participants aged 35–74 years.MethodsMyopic maculopathy was graded in phakic eyes with spherical equivalent ≤−6 D by assessing fundus photographs according to a recent international photographic classification system (META-PM). 801 eyes of 519 participants (mean age 51.0±0.77 years) met the conditions and had gradable fundus photographs. Age-specific prevalence estimates were computed. Multivariable logistic regression analysis was used to assess associa…
Lifetime exercise and disk degeneration: an MRI study of monozygotic twins.
1997
Participation in some competitive sports has been shown to increase disk degeneration; however, the long-term effects of recreational physical activities are unclear. We investigated the effects of endurance exercise and power sports on disk degeneration in monozygotic male twins with contrasting lifetime exercise histories. The effects of endurance exercise were studied in 22 discordant twin pairs (mean lifetime frequencies of 3.9 vs 1.1 times/wk), and the effects of power sports were investigated in 12 discordant pairs (2,300 vs 200 h of weightlifting). The age range of the twins was from 35 to 69 yr. No differences in MRI findings between co-twins discordant for endurance exercise were f…
Does Hybrid Surgery Improve Quality of Life in Multilevel Cervical Degenerative Disk Disease? Five-Year Follow-up Study.
2020
Background: Patient satisfaction is becoming an increasing factor worthy of consideration when evaluating the surgical quality. The correlation between patient satisfaction and surgical outcomes 5 years after cervical hybrid surgery (HS), which incorporates anterior cervical decompression and fusion and cervical disk arthroplasty techniques in multilevel cervical degenerative disk disease, has not been evaluated. Methods: The aim of this study was firstly to analyze prospectively collected data from a sample of patients (n = 50) treated with cervical HS for selected cases of radiculopathy and myelopathy in order to evaluate pain levels of patients, using the Neck and Arm Pain scale as an ex…
Clinical and radiological features of hybrid surgery in multilevel cervical degenerative disc disease.
2015
Purpose: Although several studies have established the safety and efficacy of cervical disc arthroplasty (CDA) as compared to anterior cervical discectomy and fusion (ACDF), few studies have investigated the role of hybrid surgery (HS) that incorporates ACDF and CDA techniques in multilevel cervical degenerative disc disease (MLCDDD). Methods: This prospective study enrolled patients with MLCDDD who underwent HS. Twenty consecutive patients who underwent HS were compared with patients who underwent ACDF and CDA at the same level of surgery. Patients were followed up for more than 2 years. Intraoperative parameters, clinical features and outcome scores were recorded. Radiological assessments…
Outcomes of Liver Transplant for Adults With Wilson’s Disease
2020
Wilson's disease (WD) is a rare genetic disorder with protean manifestations. Even if liver transplantation (LT) could represent an effective therapeutic option for patients with end-stage liver disease, it has remained controversial in the presence of neuropsychiatric involvement. This study aimed to examine the frequency of adult LT for WD in Italy, focusing on the disease phenotype at the time of LT. A retrospective, observational, multicenter study was conducted across Italy exploring the frequency and characteristics of adults transplanted for WD between 2006 and 2016. A total of 29 adult WD patients underwent LT during the study period at 11 Italian LT centers (accounting for 0.4% of …
Morphologic diagnosis in neuronal ceroid lipofuscinosis.
1997
Morphologic pathology in NCL is marked by two processes, the interaction of which has not yet been completely clarified: 1) degeneration of nerve cells, foremost in the cerebral cortex, resulting in considerable cerebral atrophy in early childhood forms, likely responsible for clinical and neuroradiological findings; 2) widespread accumulation of autofluorescent lysosomal lipopigments of varying ultrastructure, the demonstration of which is still largely responsible for diagnostic recognition of an individual patient's NCL. Numerous tissues and organs are available for biopsy, among them brain (historical), rectum (still favoured by some), skeletal muscle and peripheral nerves (largely by c…
The impact of isolated lesions on white-matter fiber tracts in multiple sclerosis patients
2015
Infratentorial lesions have been assigned an equivalent weighting to supratentorial plaques in the new McDonald criteria for diagnosing multiple sclerosis. Moreover, their presence has been shown to have prognostic value for disability. However, their spatial distribution and impact on network damage is not well understood. As a preliminary step in this study, we mapped the overall infratentorial lesion pattern in relapsing–remitting multiple sclerosis patients (N = 317) using MRI, finding the pons (lesion density, 14.25/cm3) and peduncles (13.38/cm3) to be predilection sites for infratentorial lesions. Based on these results, 118 fiber bundles from 15 healthy controls and a subgroup of 23 …