Síndrome de Marfan. Presentación de un caso / Marfan syndrome. A case report

RESUMEN El síndrome de Marfan es una enfermedad genética autosómica dominante del tejido conectivo, caracterizada por una combinación variable de manifestaciones cardiovasculares, músculo-esqueléticas y oftalmológicas. A pesar del descubrimiento de las mutaciones causales, su diagnóstico resulta complejo, al exhibir una gran diversidad en su presentación clínica y carecer de características patognomónicas. El diagnóstico actual de síndrome de Marfan se basa en una serie de criterios clínicos y genéticos denominados Criterios Gante revisados. Se describe el caso de una paciente de 44 años de edad, con antecedentes de luxación del cristalino, miopía y escoliosis, sin antecedentes patológicos familiares y que cumplió con los criterios diagnósticos actuales. Se sugiere la pesquisa etiológica de afecciones como luxación del cristalino y escoliosis, por parte de las especialidades correspondientes, como traducción orgánica de una enfermedad sistémica como el síndrome de Marfan.

ABSTRACT Marfan syndrome is an autosomal dominant genetic disease of connective tissue, characterized by a variable combination of cardiovascular, musculoskeletal, and ophthalmologic manifestations. Despite the discovery of the causal mutations, its diagnosis is complex, as it exhibits great diversity in its clinical presentation and lacks pathognomonic characteristics. The current diagnosis of Marfan syndrome is based on a series of clinical and genetic criteria called the revised Ghent Criteria. The case of a 44-years-old female patient with a history of lens dislocation, myopia and scoliosis, with no family pathological history and who met current diagnostic criteria is described. The etiological investigation of conditions such as lens dislocation and scoliosis is suggested, by the corresponding specialties, as an organic translation of a systemic disease such as Marfan syndrome.

Biomarcadores séricos del estado de salud en jóvenes universitarios de acuerdo a su nivel de actividad física / Serum biomarkers of health status in university students according to their level of physical activity

El objetivo del estudio fue categorizar el riesgo a sufrir enfermedades cardiometabólicas a partir del uso de biomarcadores del metabolismo de los lípidos y proteínas en estudiantes deportistas o sedentarios de la Universidad Central de Venezuela. Se determinó en suero de 103 sujetos (55 deportistas y 48 sedentarios), por método colorimétrico: creatinina (Cr), proteína total (Pt), albúmina (Al), triglicéridos (Tg), colesterol total (Col-T), y lipoproteínas de alta densidad (HDL-C), mientras que la de baja densidad (LDL-C) se obtuvo por la fórmula de Friedewald y las globulinas por la resta entre Pt y Al. Los niveles séricos de los biomarcadores se encontraron dentro de los rangos de referencia. Sólo en las HDL-C y las globulinas no se observaron diferencias significativas entre sedentarios y deportistas. En estos últimos se consiguieron los Tg notablemente bajos, mientras que el Col-T fue alto, principalmente a expensa de la LDL-C. En este grupo, la condición de los diferentes componentes del perfil lipídico y del índice Col-T/HDL-C estuvieron influenciadas por una distorsión transitoria de la lipemia, posiblemente asociada a procesos inflamatorios mediados por respuesta inmune que se presenta en actividad física de alta intensidad. Se detectó baja proporción de HDL-C elevado en sedentarios y deportistas. Apenas 2,1 por ciento de los sedentarios y 1,0 por ciento de la muestra total tuvieron albúmina sérica baja, la cual está asociada a riesgo incrementado a sufrir enfermedades cardiovasculares (ECV). Una pequeña proporción de la muestra evaluada pudiera ser susceptible a sufrir algún tipo de enfermedad cardiometabólica

The main objective of this study was to categorize the risk of suffering of cardiometabolic disease. For this, lipids and proteins metabolic biomarkers were used on sporting or sedentary students from Universidad Central de Venezuela. The following parameters were determined by colorimetric methods: Creatinine (Cr), Total protein (Tp), Albumin (Al), Triglycerides (Tg), Total cholesterol (T-Cho) and High density lipoproteins (HDL-C). The low density lipoproteins (LDL-C) were calculated by using the Friedewald formulae and globulins values were obtained by subtracting Tp from Al. The seric biomarkers levels were in the normal reference ranges. There were not significant differences on the HDL-C and globulins values between sporting and sedentary students. The sporting group showed very low Tg levels, with high T-Cho, due mainly to LDL-C. In this group, the conditions of the different components of the lipidic profile and T-Cho/HDL-C rate were influenced by a transitory lipemic distortion, possibly due to inflammatory mechanism mediated by immune response, which is observed in physical activity of high intensity. Low levels of HDL-C were obtained from both studied groups. Only 2,1 percent from the sedentary group and 1,0 percent of total sample showed low levels of albumin, which is associated to high risk of suffering from cardiovascular disease. Only a small part of the evaluated sample could be susceptible of suffering cardiometabolic disease

Biological tissue characterization by magnetic induction spectroscopy (MIS): requirements and limitations.

Magnetic induction spectroscopy (MIS) aims at the contactless measurement of the passive electrical properties (PEP) sigma, epsilon, and mu of biological tissues via magnetic fields at multiple frequencies. Whereas previous publications focus on either the conductive or the magnetic aspect of inductive measurements, this article provides a synthesis of both concepts by discussing two different applications with the same measurement system: 1) monitoring of brain edema and 2) the estimation of hepatic iron stores in certain pathologies. We derived the equations to estimate the sensitivity of MIS as a function of the PEP of biological objects. The system requirements and possible systematic errors are analyzed for a MIS-channel using a planar gradiometer (PGRAD) as detector. We studied 4 important error sources: 1) moving conductors near the PGRAD; 2) thermal drifts of the PGRAD-parameters; 3) lateral displacements of the PGRAD; and 4) phase drifts in the receiver. All errors were compared with the desirable resolution. All errors affect the detected imaginary part (mainly related to sigma) of the measured complex field much less than the real part (mainly related to epsilon and mu). Hence, the presented technique renders possible the resolution of (patho-) physiological changes of the electrical conductivity when applying highly resolving hardware and elaborate signal processing. Changes of the magnetic permeability and permittivity in biological tissues are more complicated to deal with and may require chopping techniques, e.g., periodic movement of the object.