Caracterización del HLA en una familia colombiana endogámica con síndrome de Usher

Resumen El síndrome de Usher es una enfermedad autosómica recesiva que se caracteriza por presentar retinitis pigmentosa, hipoacusia neurosensorial congénita y disfunción vestibular. El propósito de este trabajo es realizar la caracterización de hla en una familia colombiana endogámica que presenta síndrome de Usher. La metodología consiste en que con un previo consentimiento informado se realizó una genealogía de la familia y a cuatro pacientes confirmados clínicamente con síndrome de Usher y a cuatro fenotípicamente sanos se les tomó 5 ml de sangre periférica en tubos de venopunción con edta para luego realizar el aislamiento del dna por la técnica de salting out, conservados en buffer te a -8 °C y ajustada la muestra a una concentración de 8 μg/ml. Posteriormente a través de la técnica de pcr-ssp de mediana resolución se caracterizaron los antígenos de hla *a, *b, *drb1 y *dqb1. Los resultados obtenidos indican que la familia oriunda del Departamento del Huila presenta una marcada endogamia detectándose que todos los hermanos afectados, sus padres son hermanos también y una de las parejas a su vez tuvo una niña afectada, por lo que sus abuelos y padres son hermanos. En lo referente al hla, los alelos más frecuentemente encontrados fueron a30 b42 dr1 dq5 y a3 b45 dr12 y dq7, que no están asociados a la enfermedad. Estos resultados sugieren que dada la endogamia que muestra esta familia se presenta una gran acumulación de polimorfismos y mutaciones, por lo que es necesario realizar un proceso de asesoría genética para disminuir el riesgo de recurrencia. Abstract Usher syndrome is an autosomal recessive disease characterized by retinitis pigmentosa, congenital sensorineural hearing loss and vestibular dysfunction. The purpose of this work was to characterize hla in an inbred Colombian family that presents Usher Syndrome. The Methodology consisted in that a genealogy of the family was made and previous informed consent, from four patients clinically confirmed with Usher Syndrome and four phenotypically healthy patients 5 ml of peripheral blood were taken in venipuncture tubes with edta and then the dna isolation was performed with the technique of salting out, preserved in te buffer at -8 °C and adjusted the sample to a concentration of 8 μg/ml. The hla *A, *B, *DRB1 and *DQB1 antigens were then characterized by the medium-resolution pcr-ssp techniqu

Caracterización del HLA en una familia colombiana endogámica con síndrome de Usher

Resumen El síndrome de Usher es una enfermedad autosómica recesiva que se caracteriza por presentar retinitis pigmentosa, hipoacusia neurosensorial congénita y disfunción vestibular. El propósito de este trabajo es realizar la caracterización de hla en una familia colombiana endogámica que presenta síndrome de Usher. La metodología consiste en que con un previo consentimiento informado se realizó una genealogía de la familia y a cuatro pacientes confirmados clínicamente con síndrome de Usher y a cuatro fenotípicamente sanos se les tomó 5 ml de sangre periférica en tubos de venopunción con edta para luego realizar el aislamiento del dna por la técnica de salting out, conservados en buffer te a -8 °C y ajustada la muestra a una concentración de 8 μg/ml. Posteriormente a través de la técnica de pcr-ssp de mediana resolución se caracterizaron los antígenos de hla *a, *b, *drb1 y *dqb1. Los resultados obtenidos indican que la familia oriunda del Departamento del Huila presenta una marcada endogamia detectándose que todos los hermanos afectados, sus padres son hermanos también y una de las parejas a su vez tuvo una niña afectada, por lo que sus abuelos y padres son hermanos. En lo referente al hla, los alelos más frecuentemente encontrados fueron a30 b42 dr1 dq5 y a3 b45 dr12 y dq7, que no están asociados a la enfermedad. Estos resultados sugieren que dada la endogamia que muestra esta familia se presenta una gran acumulación de polimorfismos y mutaciones, por lo que es necesario realizar un proceso de asesoría genética para disminuir el riesgo de recurrencia. Abstract Usher syndrome is an autosomal recessive disease characterized by retinitis pigmentosa, congenital sensorineural hearing loss and vestibular dysfunction. The purpose of this work was to characterize hla in an inbred Colombian family that presents Usher Syndrome. The Methodology consisted in that a genealogy of the family was made and previous informed consent, from four patients clinically confirmed with Usher Syndrome and four phenotypically healthy patients 5 ml of peripheral blood were taken in venipuncture tubes with edta and then the dna isolation was performed with the technique of salting out, preserved in te buffer at -8 °C and adjusted the sample to a concentration of 8 μg/ml. The hla *A, *B, *DRB1 and *DQB1 antigens were then characterized by the medium-resolution pcr-ssp techniqu

Caracterización del HLA en una familia colombiana endogámica con síndrome de Usher

El síndrome de Usher es una enfermedad autosómica recesiva que se caracteriza por presentar retinitis pigmentosa, hipoacusia neurosensorial congénita y disfunción vestibular. El propósito de este trabajo es realizar la caracterización de hla en una familia colombiana endogámica que presenta síndrome de Usher. La metodología consiste en que con un previo consentimiento informado se realizó una genealogía de la familia y a cuatro pacientes confirmados clínicamente con síndrome de Usher y a cuatro fenotípicamente sanos se les tomó 5 ml de sangre periférica en tubos de venopunción con edta para luego realizar el aislamiento del dna por la técnica de salting out, conservados en buffer te a -8 °C y ajustada la muestra a una concentración de 8 μg/ml. Posteriormente a través de la técnica de pcr-ssp de mediana resolución se caracterizaron los antígenos de hla *a, *b, *drb1 y *dqb1. Los resultados obtenidos indican que la familia oriunda del Departamento del Huila presenta una marcada endogamia detectándose que todos los hermanos afectados, sus padres son hermanos también y una de las parejas a su vez tuvo una niña afectada, por lo que sus abuelos y padres son hermanos. En lo referente al hla, los alelos más frecuentemente encontrados fueron a30 b42 dr1 dq5 y a3 b45 dr12 y dq7, que no están asociados a la enfermedad. Estos resultados sugieren que dada la endogamia que muestra esta familia se presenta una gran acumulación de polimorfismos y mutaciones, por lo que es necesario realizar un proceso de asesoría genética para disminuir el riesgo de recurrencia

X-ray computed tomography for additive manufacturing: a review

In this review, the use of x-ray computed tomography (XCT) is examined, identifying the requirement for volumetric dimensional measurements in industrial verification of additively manufactured (AM) parts. The XCT technology and AM processes are summarised, and their historical use is documented. The use of XCT and AM as tools for medical reverse engineering is discussed, and the transition of XCT from a tool used solely for imaging to a vital metrological instrument is documented. The current states of the combined technologies are then examined in detail, separated into porosity measurements and general dimensional measurements. In the conclusions of this review, the limitation of resolution on improvement of porosity measurements and the lack of research regarding the measurement of surface texture are identified as the primary barriers to ongoing adoption of XCT in AM. The limitations of both AM and XCT regarding slow speeds and high costs, when compared to other manufacturing and measurement techniques, are also noted as general barriers to continued adoption of XCT and AM

Echocardiographic findings and subsequent risk of native valve endocarditis

Background: The association of echocardiographic findings and subsequent risk of left-sided native valve endocarditis (LS-NVE) is undefined. The aim of this study was to determine if transthoracic echocardiographic (TTE) measurements are associated with the subsequent development of LS-NVE in patients without cardiac predisposing conditions. Methods: Institutional databases were evaluated for adults diagnosed with LS-NVE from 2008 to 2020. Patients with prosthetic valves, cardiovascular implantable electronic devices, intracardiac devices, injection drug use, and predisposing cardiac conditions were excluded. Only patients who had a TTE performed 6 months to 3 years before the development of LS-NVE were included as cases. Controls were patients within the same Mayo location with a TTE report and were matched in a 1:3 ratio according to age, gender, Charlson Comorbidity Index, and echocardiography date. Results: There were 148 cases and 431 matched controls. As compared to controls, IE cases had a higher prevalence of diabetes mellitus (46.6% vs. 30.4%) and chronic kidney disease (46.6% vs. 28.1%) (p<0.001). Left ventricular outflow tract velocity (p=0.017), left ventricular ejection fraction (p=0.018), and E: e’ ratio (p=0.050) were associated with LS-NVE. Conclusions: Echocardiographic measurements were associated with subsequent LS-NVE development in this pilot study. A larger cohort of LS-NVE patients, however, is needed to validate these findings

Normal Global Longitudinal Strain: An Individual Patient Meta-Analysis

peer reviewed[No abstract available

Vertebroplasty: patient and treatment variations studied through parametric computational models

Background Vertebroplasty is increasingly used in the treatment of vertebral compression fractures. However there are concerns that this intervention may lead to further fractures in the adjacent vertebral segments. This study was designed to parametrically assess the influence of both treatment factors (cement volume and number of augmentations), and patient factors (bone and disc quality) on the biomechanical effects of vertebroplasty. Methods Specimen-specific finite element models of two experimentally-tested human three-vertebral-segments were developed from CT-scan data. Cement augmentation at one and two levels was represented in the respective models and good agreement in the predicted stiffness was found compared to the corresponding experimental specimens. Parametric variations of key variables associated with the procedure were then studied. Findings The segmental stiffness increased with disc degeneration, with increasing bone quality and to a lesser extent with increasing cement volume. Cement modulus did not have a great influence on the overall segmental stiffness and on the change in the elemental stress in the adjoining vertebrae. However, following augmentation, the stress distribution in the adjacent vertebra changed, indicating possible load redistribution effects of vertebroplasty. Interpretation This study demonstrates the importance of patient factors in the outcomes of vertebroplasty and suggests that these may be one reason for the variation in clinical results

The impact of rheumatoid foot on disability in Colombian patients with rheumatoid arthritis

<p>Abstract</p> <p>Background</p> <p>Alterations in the feet of patients with rheumatoid arthritis (RA) are a cause of disability in this population. The purpose of this research was to evaluate the impact that foot impairment has on the patients' global quality of life (QOL) based on validated scales and its relationship to disease activity.</p> <p>Methods</p> <p>This was a cross-sectional study in which 95 patients with RA were enrolled. A complete physical examination, including a full foot assessment, was done. The Spanish versions of the Health Assessment Questionnaire (HAQ) Disability Index and of the Disease Activity Score (DAS 28) were administered. A logistic regression model was used to analyze data and obtain adjusted odds ratios (AORs).</p> <p>Results</p> <p>Foot deformities were observed in 78 (82%) of the patients; hallux valgus (65%), medial longitudinal arch flattening (42%), claw toe (lesser toes) (39%), dorsiflexion restriction (tibiotalar) (34%), cock-up toe (lesser toes) (25%), and transverse arch flattening (25%) were the most frequent. In the logistic regression analysis (adjusted for age, gender and duration of disease), forefoot movement pain, subtalar movement pain, tibiotalar movement pain and plantarflexion restriction (tibiotalar) were strongly associated with disease activity and disability. The positive squeeze test was significantly associated with disability risk (AOR = 6,3; 95% CI, 1.28–30.96; P = 0,02); hallux valgus, and dorsiflexion restriction (tibiotalar) were associated with disease activity.</p> <p>Conclusion</p> <p>Foot abnormalities are associated with active joint disease and disability in RA. Foot examinations provide complementary information related to the disability as an indirect measurement of quality of life and activity of disease in daily practice.</p

Looking through the 'window of opportunity': is there a new paradigm of podiatry care on the horizon in early rheumatoid arthritis?

Over the past decade there have been significant advances in the clinical understanding and care of rheumatoid arthritis (RA). Major paradigm changes include earlier disease detection and introduction of therapy, and 'tight control' of follow-up driven by regular measurement of disease activity parameters. The advent of tumour necrosis factor (TNF) inhibitors and other biologic therapies have further revolutionised care. Low disease state and remission with prevention of joint damage and irreversible disability are achievable therapeutic goals. Consequently new opportunities exist for all health professionals to contribute towards these advances. For podiatrists relevant issues range from greater awareness of current concepts including early referral guidelines through to the application of specialist skills to manage localised, residual disease activity and associated functional impairments. Here we describe a new paradigm of podiatry care in early RA. This is driven by current evidence that indicates that even in low disease activity states destruction of foot joints may be progressive and associated with accumulating disability. The paradigm parallels the medical model comprising early detection, targeted therapy, a new concept of tight control of foot arthritis, and disease monitoring