2,785 research outputs found
Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report
Novel Mutation in the Apob Gene (Apo B-15.56): A Case ReportFamilial hypobetalipoproteinemia (FHBL) is a rare co-dominant genetic disorder characterized by decrease of plasma low density lipoprotein-cholesterol (LDL-c) or apolipoprotein B (Apo-B) equal to or less than the 5th percentile for the population. We describe a 48-year-old male who presented with fatty liver disease (FLD), insulin resistance (IR), obesity and hypertension. Our patient thus met the latest diagnostic criteria of the metabolic syndrome (MS) proposed by the Adult Treatment Panel and the International Diabetes Federation. However, he had very low plasma concentration of LDL-c and Apo-B. DNA sequencing showed that he and two first-degree relatives affected by obesity and mild IR were heterozygous for a single nucleotide deletion on exon 15 of the APOB gene, which was predicted to form a truncated Apo-B designated Apo B-15.56
Osteopathic Manipulative Treatment and Cardiovascular Autonomic Parameters in Rugby Players: A Randomized, Sham-Controlled Trial
Objective: The purpose of this study was to investigate the effects of osteopathic manipulative treatment (OMT) on cardiovascular autonomic parameters after a rugby match. Methods: Resting and reactivity (ie, response to orthostasis) measures of mean arterial pressure, heart rate, and heart rate variability were assessed in 23 male players after a single session of OMT, both 18 to 20 hours after a rugby match and in a corresponding no-match condition, in a randomized, sham-controlled, crossover design. Results: Signs of reduced heart rate variability and elevated mean arterial pressure and heart rate were found 18 to 20 hours after a rugby match compared with the no-match condition. A significant increase in heart rate variability and a significant reduction in mean arterial pressure were observed after OMT in both the after-match and no-match conditions. Heart rate and heart rate variability responses to orthostasis were not affected by previous match competition, but were significantly larger after OMT compared with sham treatment. Conclusion: This study suggests the presence of cardiovascular autonomic alterations in rugby players after a competitive match, which may be indicative of prolonged fatigue and incomplete recovery. In these players, favorable changes in cardiovascular autonomic parameters were observed following a single session of OMT
A review of clinical decision-making: Models and current research
Aims and objectives: The aim of this paper was to review the current literature with respect to clinical decision-making models and the educational application of models to clinical practice. This was achieved by exploring the function and related research of the three available models of clinical decision making: information processing model, the intuitive-humanist model and the clinical decision making model.
Background: Clinical decision-making is a unique process that involves the interplay between knowledge of pre-existing pathological conditions, explicit patient information, nursing care and experiential learning. Historically, two models of clinical decision making are recognised from the literature; the information processing model and the intuitive-humanist model. The usefulness and application of both models has been examined in relation the provision of nursing care and care related outcomes. More recently a third model of clinical decision making has been proposed. This new multidimensional model contains elements of the information processing model but also examines patient specific elements that are necessary for cue and pattern recognition.
Design: Literature review
Methods: Evaluation of the literature generated from MEDLINE, CINAHL, OVID, PUBMED and EBESCO systems and the Internet from 1980 – November 2005
Age-Related Changes in Cardiac Autonomic Modulation and Heart Rate Variability in Mice
Objective: The aim of this study was to assess age-related changes in cardiac autonomic modulation and heart rate variability (HRV) and their association with spontaneous and pharmacologically induced vulnerability to cardiac arrhythmias, to verify the translational relevance of mouse models for further in-depth evaluation of the link between autonomic changes and increased arrhythmic risk with advancing age. Methods: Heart rate (HR) and time- and frequency-domain indexes of HRV were calculated from Electrocardiogram (ECG) recordings in two groups of conscious mice of different ages (4 and 19 months old) (i) during daily undisturbed conditions, (ii) following peripheral β-adrenergic (atenolol), muscarinic (methylscopolamine), and β-adrenergic + muscarinic blockades, and (iii) following β-adrenergic (isoprenaline) stimulation. Vulnerability to arrhythmias was evaluated during daily undisturbed conditions and following β-adrenergic stimulation. Results: HRV analysis and HR responses to autonomic blockades revealed that 19-month-old mice had a lower vagal modulation of cardiac function compared with 4-month-old mice. This age-related autonomic effect was not reflected in changes in HR, since intrinsic HR was lower in 19-month-old compared with 4-month-old mice. Both time- and frequency-domain HRV indexes were reduced following muscarinic, but not β-adrenergic blockade in younger mice, and to a lesser extent in older mice, suggesting that HRV is largely modulated by vagal tone in mice. Finally, 19-month-old mice showed a larger vulnerability to both spontaneous and isoprenaline-induced arrhythmias. Conclusion: The present study combines HRV analysis and selective pharmacological autonomic blockades to document an age-related impairment in cardiac vagal modulation in mice which is consistent with the human condition. Given their short life span, mice could be further exploited as an aged model for studying the trajectory of vagal decline with advancing age using HRV measures, and the mechanisms underlying its association with proarrhythmic remodeling of the senescent heart
Epidemiology of distal radius fractures: a detailed survey on a large sample of patients in a suburban area
Background: Literature lacks data on correlations between epidemiology and clinical data of patients with distal
radius fractures (DRFs).
Aim: The aim of this study was to present a detailed epidemiologic survey of a large consecutive series of patient
with DRFs.
Materials and Methods: This retrospective study included 827 consecutive patients (579 females, 248 men) who
sustained a DRFs in the last 5 years. All fractures were radiographically evaluated. DRFs were classifed according to
Association of Osteosynthesis classifcation. Data on age, gender, side, period in which fracture occurred, and fracture
mechanism were collected. Statistical analysis was performed.
Results: The patients’ mean age was 60.23 [standard deviation (SD) 16.65] years, with the left side being most frequently involved (56.1%). The mean age of females at the time of fracture was signifcantly higher than that of males.
The most frequent pattern of fracture was the complete articular fracture (64.3%), while the most represented fracture
type was 2R3A2.2 (21.5%). Regarding the period in which the fracture occurred, 305 DRFs (37.5%) were observed in
the warmer months and 272 (33.4%) in the colder months. Low-energy trauma occurring outside home was found to
be the major cause of DRF throughout the year.
In both genders, trauma mechanism 2 was more frequent (59.4% F; 31.9% M; p<0.01).
A bimodal distribution of fracture mechanisms was found in males when considering the patient’s age with a highenergy mechanism of fracture (3 and 4), identifed in 21% (n=52) of males aged 18–45 years, and a low-energy
mechanism (1 and 2) was observed in 39.9% (n=99) of males aged>45 years. A signifcant correlation between all
trauma mechanisms (from 1 to 6) and diferent fracture patterns (complete, partial, and extraarticular) was found
(p value<0.001). The mean age of patients with extraarticular fractures (mean age 61.75 years; SD 18.18 years) was
higher than that of those with complete (mean age 59.84 years; SD 15.67 years) and partial fractures (mean age
55.26 years; SD 18.31 years). Furthermore, considering diferent fracture patterns and patient age groups, a statistically
signifcant diference was found (p<0.001).
Conclusions: DRFs have a higher prevalence in females, an increase in incidence with older age, and no seasonal
predisposition. Low-energy trauma occurring at home is the main cause of fracture among younger males sustaining fractures after sports trauma; Complete articular is the most frequent fracture pattern, while 2R3A2.2 is most frequent
fracture type.
Level of evidence: Level IV; case series; descriptive epidemiology stud
Comparison of amsler–krumeich and sandali classifications for staging eyes with keratoconus
Keratoconus (KC) is the most common corneal ectasia characterized by progressive corneal thinning, protrusion, and irregular astigmatism. The Amsler–Krumeich classification based on the analysis of corneal topography, corneal thickness, refraction and biomicroscopy is the most commonly used; recently, a new classification based on anterior segment Optical Coherence Tomography was introduced by Sandali and colleagues. Since there is no information about the possible agreement between these two classifications, the aim of this study is to compare the stratification of consecutive KC patients using the Amsler–Krumeich and Sandali classifications, and to further ascertain KC cases in which one classification is preferred over the other. Overall, 252 eyes of 137 patients (41.45 ± 16.93 years) were analyzed: in 156 eyes (61.9%), the Amsler and Sandali staging differed in one stage while in 75 cases (29.8%) it differed in two or more stages. In 222 eyes (88.1%), the Sandali staging was higher compared to the Amsler one. These results show that the two classifications are not fully interchangeable: the Amsler–Krumeich classification is more appropriate in identifying and longitudinally monitoring patients with early stages of KC, while the Sandali classification for the diagnosis and follow-up of patients with more advanced stages, particularly when a surgical planning has to be chosen
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