Search results for "Axia"
showing 10 items of 638 documents
Regional deprivation and non-cancer related computed tomography use in pediatric patients in Germany: Cross-sectional analysis of cohort data.
2016
BACKGROUND: Conflicting findings were observed in recent studies assessing the association between patients' area-level socio-economic status and the received number of computed tomography (CT) examinations in children. The aim was to investigate the association between area-level socio-economic status and variation in CT examination practice for pediatric patients in Germany. METHODS: Data from Radiology Information Systems for children aged 0 to < 15 years without cancer who had at least one CT examination between 2001 and 2010 were extracted in 20 hospitals across Germany. The small-area German Index of Multiple Deprivation (GIMD) was used to assess regional deprivation. The GIMD …
Disease and patient characteristics in NP-C patients: findings from an international disease registry.
2013
Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. We report data recorded at enrolment in an ongoing international NP-C registry initiated in September 2009 to describe disease natural history, clinical course and treatment experience of NP-C patients in clinical practice settings. Methods The NPC Registry is a prospective observational cohort study. Participating sites are encouraged to evaluate all consecutive patients with a confirmed diagnosis of NP-C, regardless of their treatment status. All patients undergo clinical assessments and medical care as determined by their physicians. D…
Adolescent idiopathic scoliosis screening: Could a school-based assessment protocol be useful for an early diagnosis?
2020
BACKGROUND: Adolescent idiopathic scoliosis screening still needs a considerable implementation, particularly throughout a school-based assessment protocol. OBJECTIVE: This study aims to evaluate the effectiveness of clinical examinations currently in use for the diagnosis of adolescent idiopathic scoliosis, through a survey carried out in secondary schools to standardize a screening protocol that could be generalized. METHODS: In their classrooms, the adolescents underwent an idiopathic scoliosis screening through three examinations: Adam’s test, axial trunk rotation (ATR) and plumb line. In case of single positivity to one of the three examinations, a column X-ray examination was recommen…
Niemann-Pick disease type C symptomatology: an expert-based clinical description
2013
Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early dise…
Management of intracranial hemorrhage in adult patients on extracorporeal membrane oxygenation (ECMO): An observational cohort study.
2017
Background Intracranial hemorrhage (ICH) is a common complication in adults treated with extracorporeal membrane oxygenation (ECMO). The aim of this study was to identify predictors of outcome and investigate intervention strategies following ICH development in ECMO-treated adult patients. Methods We conducted a retrospective review of adult patients (≥18 years) who developed an ICH during ECMO treatment at the Karolinska University Hospital (Stockholm, Sweden) between September 2005 and May 2017. Outcome was assessed by 30-day mortality and Glasgow Outcome Scale (GOS) after 6 months. The statistical analysis was supplemented by a case series of patients who were surgically treated for an I…
Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.
2006
The variability and mutational changes of the CAG microsatellite in the TATA-box binding protein gene (TBP) were studied. We sequenced the microsatellite of the TBP gene of 25 unrelated individuals from northern Germany (10 SCA17 patients and 15 unaffected control individuals). In addition, the microsatellites were sequenced from individuals of 10 northern German families with at least one family member affected by SCA17. To study also the evolutionary history of this CAG/CAA microsatellite in nonhuman primates, the homologous regions were analysed from Pan troglodytes, Gorilla gorilla, Pongo pygmaeus, P. abellii, Hylobates lar, Nomascus leucogenys, Symphalangus syndactylus, Macaca mulatta,…
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
2020
Abstract Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare. Case presentation A clinical, molecular, neuroradiological, neuropsy…
Genetic variants associated with human eye size are distinct from those conferring susceptibility to myopia
2021
Purpose: Emmetropization requires coordinated scaling of the major ocular components, corneal curvature and axial length. This coordination is achieved in part through a shared set of genetic variants that regulate eye size. Poorly coordinated scaling of corneal curvature and axial length results in refractive error. We tested the hypothesis that genetic variants regulating eye size in emmetropic eyes are distinct from those conferring susceptibility to refractive error.Methods: A genome-wide association study (GWAS) for corneal curvature in 22,180 adult emmetropic individuals was performed as a proxy for a GWAS for eye size. A polygenic score created using lead GWAS variants was tested for…
Optical coherence tomography angiography evaluation of peripapillary microvascular changes after rhegmatogenous retinal detachment repair
2021
PURPOSE To evaluate the radial peripapillary capillary plexus (RPCP) vessel density (VD) and the retinal nerve fiber layer (RNFL) thickness in eyes successfully treated with pars plana vitrectomy for primary rhegmatogenous retinal detachment. METHODS In this cross-sectional multicenter clinical study, eyes with a minimum 12-month follow-up were reexamined. The RPCP VD and RNFL thickness in the rhegmatogenous retinal detachment subfields of the affected eye (study group) were compared with the corresponding areas of the healthy fellow eyes (control group). RESULTS Fifty-three eyes were included in the study. A significantly lower RPCP VD and RNFL thickness were observed in those subfields af…
Corneal Biomechanics, Retinal Nerve Fiber Layer, and Optic Disc in Children
2014
Purpose. To evaluate the possible associations between corneal biomechanical parameters, optic disc morphology, and retinal nerve fiber layer (RNFL) thickness in healthy white Spanish children. Methods. This cross-sectional study included 100 myopic children and 99 emmetropic children as a control group, ranging in age from 6 to 17 years. The Ocular Response Analyzer was used to measure corneal hysteresis (CH) and corneal resistance factor. The optic disc morphology and RNFL thickness were assessed using posterior segment optical coherence tomography (Cirrus HD-OCT). The axial length was measured using an IOLMaster, whereas the central corneal thickness was measured by anterior segment opti…