Search results for " Error."

Trichostasis spinulosa misdiagnosed as alopecia areata.

2020

Heredity of interocular similarities in components of refraction: a population-based twin study among 66- to 79-year-old female twins.

2019

Purpose: To examine genetic influences on interocular similarities in ocular refraction and components of refraction among elderly female twins. Methods: Refraction was assessed in 94 monozygotic (MZ) and 74 dizygotic (DZ) female twins aged 66–78 years. Absolute values of interocular differences (Aniso variables) in spherical refraction (SR), refractive astigmatism (AST), spherical equivalent (SE), corneal refractive power (CR), corneal astigmatism (CAST), anterior chamber depth (ACD) and axial length (AL) were calculated. The differences between sisters in each of the Aniso variables were calculated and graded into two categories, best differentiating the groups, here isometropic and aniso…

A case of combined Farber and Sandhoff disease

1989

We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots. Until the age of 2 years her motor and physical condition deteriorated distinctly, however her mental state remained unchanged. A biopsied skin nodule disclosed lysosomal inclusions within storage cells that were typical of Farber disease (curved tubular structures). However, other inclusions (e.g. zebra bodies) were also found. Biochemical findings included ceramide accumulation in skin nodules and cultured…

Diagnostic of craniofacial asymmetry : literature review

2009

Facial asymmetry is a common feature in many syndromes, and requires surgery as the only valid treatment option. Routine diagnostic methods (frontal RX, panoramic RX and submentovertex RX) have serious limitations mainly due to the transfer from a three dimensional image to a two dimensional plane. The feasibility of such methods is poorly supported due to inherent projection errors (image magnification, cranial rotation) and identification errors (image quality, precision and reproducibility). The use of computer tomographies represents a substantial improvement in the sense of skeletal and soft tissue structures? reproduction precision. The interpretation of this new data source makes evi…

Medication errors and risk areas in a critical care unit

2020

The aim of this study was to identify the main medication errors, their causality and the highest risk areas in critical care.A descriptive, longitudinal and retrospective study.We performed a systematic analysis of the prescription, transcription and administration records of 2,634 dose units of medications that were administered to a total of 87 critically ill patients during 2018.Final results have shown important medication errors and a high number of significant drug interactions; prescription phase had the highest mistake rate (71%) and cause of errors (68%); transcription stage had a more variable error typology. A significant correlation was observed between the presence of causes a…

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

2015

Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared with published findings for untreated patients with Fabry disease. Data were extracted from FOS, a Shire-sponsored database, for comparison with data from three published studies. Outcomes evaluated were the annualized rate of change in estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) as well as time to and ages at a composite morbidity endpoint and at death. FOS data were extracted for 740 treated patients who were followed for a median of ~ 5 years. Compared with no trea…

Individualized Monitoring of Muscle Recovery in Elite Badminton

2019

\(\bf Purpose:\) Individualized reference ranges for serum creatine kinase (CK) and urea are a promising tool for the assessment of recovery status in high-level endurance athletes. In this study, we investigated the application of this approach in racket sports, specifically for the monitoring of elite badminton players during the preparation for their world championships. \(\bf Methods:\) Seventeen elite badminton players were enrolled of which 15 could be included in the final analysis. Repeated measurements of CK and urea at recovered (R) and non-recovered (NR) time points were used for the stepwise individualization of group-based, prior reference ranges as well as for the evaluation o…

Strategies for identifying dysplasia in Barrett's oesophagus

2012

Abstract Early neoplastic changes in Barrett's oesophagus are often only recognizable visually as discrete mucosal irregularities. With timely diagnosis, the prognosis is excellent, in contrast to advanced tumours in Barrett's oesophagus. The international specialist societies therefore recommend regular endoscopic surveillance for patients who have been diagnosed with Barrett's oesophagus. Following the 1993 Seattle Protocol, the various guidelines consistently require four-quadrant biopsy sampling every 1–2 cm over the entire Barrett's segment and additional biopsies from visually suspicious-appearing areas. This approach is time-consuming and costly, and inevitably involves sampling erro…

Implantation of a custom intraocular lens with a 30-diopter torus for the correction of high astigmatism after penetrating keratoplasty.

2003

Abstract We present a 62-year-old woman who had implantation of an intraocular lens (IOL) with a torus of 30.0 diopters (D) in an eye after penetrating keratoplasty. The patient presented with cataract and a best corrected visual acuity of 20/400. Penetrating keratoplasty was performed in 1975 because of decompensated keratoconus. With a clear but inferiorly decentered corneal graft, visual acuity was limited because of keratoplasty-related high corneal astigmatism of 22.5@156 that could not be successfully treated with spectacles or contact lenses. A custom toric IOL with –30.0 D of cylindrical power was implanted in the capsular bag via a sclerocorneal tunnel incision. Additionally, a sph…

Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells

2012

Progressive chronic kidney disease (CKD) is common in lysinuric protein intolerance (LPI), a primary inherited aminoaciduria characterized by massive Lysine excretion in urine. However, by which mechanisms Lysine may cause kidney damage to tubule cells is still not understood. This study determined whether Lysine overloading of human proximal tubular cells (HK-2) in culture enhances apoptotic cell loss and its associated mechanisms. Overloading HK-2 with Lysine levels reproducing those observed in urine of patients affected by LPI (10 mM) increased apoptosis (+30%; p < 0.01 vs.C), as well as Bax and Apaf-1 expressions (+30-50% p < 0.05), while downregulated Bcl-2 (-40% p < 0.05). Apoptosis …