RESUMEN
Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular, ophthalmological or musculoskeletal. We describe a 70 year-old patient affected by recurrent arthralgias, hypoesthesia and hyposthenia in all 4 limbs and severe hypokalemia, complicated by atrial flutter. Moreover, our patient reported eating large amounts of licorice, and was treated with medium-high dosages of furosemide, thus making diagnosis very challenging. Genetic analysis demonstrated a novel heterozygous mutation in the SLC12A3 gene; therefore, we diagnosed GS and started potassium and magnesium replacement. GS combined with chondrocalcinosis and neurological involvement is quite common, but this is the first case of an EMG-proven severe neuropathy associated with GS. Herein, we underline the close correlation between hypomagnesemia, chondrocalcinosis and neurological involvement. Moreover, we report a new heterozygous mutation in exon 23 (2738G>A), supporting evidence of a large genetic heterogeneity in this late-onset congenital tubulopathy.
Asunto(s)
Condrocalcinosis/complicaciones , Síndrome de Gitelman/complicaciones , Enfermedades del Sistema Nervioso/complicaciones , Miembro 3 de la Familia de Transportadores de Soluto 12/genética , Anciano , Electromiografía , Furosemida/administración & dosificación , Síndrome de Gitelman/diagnóstico , Síndrome de Gitelman/genética , Glycyrrhiza/efectos adversos , Humanos , Hipercalciuria/complicaciones , Masculino , Nefrocalcinosis/complicaciones , Enfermedades del Sistema Nervioso/diagnóstico , Defectos Congénitos del Transporte Tubular Renal/complicaciones , Inhibidores del Simportador de Cloruro Sódico y Cloruro Potásico/administración & dosificaciónRESUMEN
BACKGROUND AND OBJECTIVE: Serum tryptase (ST) decreases during long-term venom immunotherapy (VIT). ST also exhibits a circadian variation, with a small decrease after sting challenge. Both findings have been related to successful VIT. Objective: To assess whether variation (increase or decrease) in ST on the first day of VIT is associated with the likelihood of future systemic adverse reactions (SARs) during treatment. METHODS: We prospectively studied patients who underwent cluster VIT, which was continued for at least 6 months. ST was measured on the first day of VIT, before the first dose (pre-IT tryptase) and after the last dose (post-IT tryptase). Differences between patient groups (with and without SAR) were analyzed. RESULTS: A total of 160 courses of VIT were administered to 150 patients. The median baseline ST value was 4.3 µg/L. A total of 25 courses (15.6%) were associated with SAR. In 64% of the 25 patients with SAR, the post-IT tryptase value was higher than the pre-IT tryptase level; the median increment was 19% in these patients. We found a significant association between the increase in ST on the first day of VIT and future SARs (risk ratio, 7.6). This elevation was independent of the scheduled VIT day, severity of the SAR, and baseline ST value. CONCLUSIONS: A slight increase in tryptase on the first day of VIT is an independent variable that is strongly related to a high risk of future SAR. This simple biomarker could improve patient safety.
Asunto(s)
Venenos de Artrópodos/inmunología , Himenópteros/inmunología , Adulto , Animales , Femenino , Humanos , Inmunoterapia/métodos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Estudios Prospectivos , Triptasas/sangre , Triptasas/inmunologíaRESUMEN
OBJECTIVE: To analyze the effectiveness and safety of intravenous immunoglobulin (IVIG) given in routine care to patients with systemic sclerosis (SSc). METHODS: A retrospective multicenter observational study was conducted in SSc patients treated with IVIG. We collected data on epidemiological parameters and clinical outcomes. Firstly, we assessed changes in organ manifestations during IVIG treatment. Secondly, we analyzed the frequency of adverse effects. The following parameters were collected from baseline to the last follow-up: the patient's weight, modified Rodnan Skin Score (mRSS), modified manual muscle strength scale (MRC), laboratory test(creatine kinase(CK), hemoglobin and protein levels), The University of California Los Angeles Scleroderma Clinical Trials Consortium gastrointestinal tract 2.0 (UCLA GIT 2.0) questionnaire, pulmonary function tests, and echocardiography. RESULTS: Data were collected on 78 patients (82% females; 59% with diffuse SSc). Inflammatory idiopathic myopathy was the most frequent concomitant overlap disease (41%). The time since Raynaud's phenomenon and SSc onset were 8.8 ± 18 and 6.2 ± 6.7 years respectively. The most frequent IVIG indication was myositis (38/78), followed by gastrointestinal (27/78) and cutaneous (17/78) involvement. The median number of cycles given were 5. 54, 53 and 9 patients have been treated previously with glucocorticoids, synthetic disease-modifying antirheumatic drugs and biologic therapies respectively. After IVIG use we found significant improvements in muscular involvement (MRC ≥ 3/5 92% IVIG, p = 0.001 and CK levels from 1149 ± 2026 UI to 217 ± 224 UI, p = 0.02), mRSS (15 ± 12.4 to 13 ± 12.5, p = 0.015) and improvement in total score of UCLA GIT 2.0 (p = 0.05). None Anti-RNA polymerase III patients showed an adequate response in gastrointestinal involvement (0/7) in comparison with other antibodies (0 vs. 25, p = 0,039). Cardiorespiratory involvement remained stable. A total of 12 adverse events were reported with only one withdrawn due to serious adverse effect. CONCLUSIONS: this study suggest that IVIG may improve myositis, gastrointestinal and skin involvement in SSc patients treated in routine care and seems to have a good safety profile.
Asunto(s)
Miositis , Esclerodermia Sistémica , Femenino , Humanos , Masculino , Inmunoglobulinas Intravenosas/uso terapéutico , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/tratamiento farmacológico , Estudios Retrospectivos , Piel , Miositis/tratamiento farmacológico , Estudios Multicéntricos como Asunto , Estudios Observacionales como AsuntoRESUMEN
This study demonstrates that appropriate measurement procedures can detect differences in head movement in a near reading task when using three different progressive addition lenses (PALs). The movements were measured using an anatomical reference system with a biomechanical rationale. This reference system was capable of representing rotations for comparing head flexion relative to trunk, head flexion relative to neck, head rotation relative to trunk and trunk flexion. The subject sample comprised 31 volunteers and three PAL designs with different viewing zones were selected. Significant differences were found between the lenses for three of the seven movement parameters examined. The differences occurred for both vertical and horizontal head movements and could be attributed to aspects of the PAL design. The measurement of the complete kinematic trunk-neck-head chain improved the number of differences that were found over those in previous studies. STATEMENT OF RELEVANCE: The study proposes a methodology based on a biomechanical rationale able to differentiate head-neck-trunk posture and movements caused by different progressive addition lens designs with minimum invasiveness. This methodology could also be applied to analyse the ergonomics of other devices that restrict the user's field of view, such as helmets, personal protective equipment or helmet-mounted displays for pilots. This analysis will allow designers to optimise designs offering higher comfort and performance.
Asunto(s)
Anteojos , Movimientos de la Cabeza/fisiología , Cabeza/fisiología , Cuello/fisiología , Postura/fisiología , Campos Visuales/fisiología , Adulto , Factores de Edad , Anciano , Envejecimiento , Análisis de Varianza , Fenómenos Biomecánicos , Femenino , Cabeza/anatomía & histología , Humanos , Masculino , Persona de Mediana Edad , Cuello/anatomía & histología , LecturaRESUMEN
The new multislice computed tomography (CT) machines require some new methods of shielding calculation, which need to be analysed. NCRP Report No. 147 proposes three shielding calculation methods based on the following dosimetric parameters: weighted CT dose index for the peripheral axis (CTDI(w, per)), dose-length product (DLP) and isodose maps. A survey of these three methods has been carried out. For this analysis, we have used measured values of the dosimetric quantities involved and also those provided by the manufacturer, making a comparison between the results obtained. The barrier thicknesses when setting up two different multislice CT instruments, a Philips Brilliance 16 or a Philips Brilliance 64, in the same room, are also compared. Shielding calculation from isodose maps provides more reliable results than the other two methods, since it is the only method that takes the actual scattered radiation distribution into account. It is concluded therefore that the most suitable method for calculating the barrier thicknesses of the CT facility is the one based on isodose maps. This study also shows that for different multislice CT machines the barrier thicknesses do not necessarily become bigger as the number of slices increases, because of the great dependence on technique used in CT protocols for different anatomical regions.
Asunto(s)
Diseño Asistido por Computadora , Modelos Teóricos , Protección Radiológica/instrumentación , Protección Radiológica/métodos , Radiometría/métodos , Tomografía Computarizada por Rayos X/instrumentación , Tomografía Computarizada por Rayos X/métodos , Simulación por Computador , Diseño de Equipo , Análisis de Falla de Equipo , Dosis de Radiación , Dispersión de RadiaciónAsunto(s)
Anestesia Intravenosa/métodos , Atracurio/análogos & derivados , Carcinoma de Células Escamosas/cirugía , Neoplasias Laríngeas/cirugía , Laringectomía/métodos , Síndrome de Miller Fisher/fisiopatología , Bloqueantes Neuromusculares/administración & dosificación , Atracurio/administración & dosificación , Atracurio/efectos adversos , Biopsia , Carcinoma de Células Escamosas/complicaciones , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Epilepsias Parciales/complicaciones , Hernia Hiatal/complicaciones , Humanos , Neoplasias Laríngeas/complicaciones , Neoplasias Laríngeas/diagnóstico , Neoplasias Laríngeas/patología , Masculino , Persona de Mediana Edad , Monitoreo Intraoperatorio , Disección del Cuello , Bloqueantes Neuromusculares/efectos adversos , Piperidinas/administración & dosificación , Propofol/administración & dosificación , Enfermedad Pulmonar Obstructiva Crónica/complicaciones , Remifentanilo , Prevención Secundaria , TraqueostomíaRESUMEN
La leucemia infantil es el cáncer pediátrico principal, a pesar del éxito en el tratamiento, la causa de esta enfermedad aún no tiene un mecanismo molecular completamente conocido. Los mecanismos epigenéticos pueden causar cambios en la función de los genes y participar en el desarrollo del cáncer, por ejemplo la leucemia. Además la hipótesis sobre la infección está ganando más evidencia en el rol de la patogénesis de la leucemia. Asimismo las aberraciones cromosómicas, en particular las translocaciones y sus correspondientes fusiones de genes, juegan un papel importante en las etapas iniciales de la tumorogénesis. Todo este conocimiento aumentará sustancialmente con el advenimiento de nuevas y poderosas herramientas para la investigación que permita detectar reordenamientos citogenéticos.