Estrés miocárdico en pacientes con síndrome de apneas grave / Myocardial stress in patients with severe apnea syndrome during sleep

Introducción: El síndrome de apneas-hipopneas del sueño (SAHS) es un factor de riesgo cardiovascular y puede producir estrés miocárdico. Objetivos: Evaluar si un SAHS grave produce estrés miocárdico valorado este mediante marcadores séricos. Pacientes y métodos: Estudio prospectivo, observacional longitudinal realizado en pacientes con sospecha de padecer trastornos del sueño a los que se les solicitó una poligrafía cardiorrespiratoria. Fueron excluidos aquellos sujetos con patología pulmonar o extrapulmonar grave. Según el índice de apneas-hipopneas (IAH) los sujetos se asignaron al grupo con SAHS grave (IAH > 30) o al grupo sin SAHS (IAH < 5). Se compararon las cifras séricas de troponina I y mioglobina en ambos grupos. Resultados: Fueron incluidos 48 sujetos, 29 con SAHS grave y 19 sin SAHS, ambos grupos presentaron datos similares en edad, género e índice de masa corporal. Los enfermos con SAHS mostraron un número mayor de factores de riesgo vascular que fue estadísticamente significativo en la hipertensión arterial (p = 0,041). Respecto al grupo sin SAHS, los pacientes mostraron cifras de troponina I y mioglobina similares (p > 0,5). En el SAHS grave tampoco hubo correlación significativa entre los valores séricos de troponina I y mioglobina, y las variables de saturación periférica de oxígeno nocturna. Conclusiones: Respecto a los pacientes sin SAHS, en aquellos con un SAHS grave no se observaron cambios significativos en los marcadores séricos relacionados con estrés miocárdico. Los valores que determinan el grado de hipoxemia nocturna no mostraron correlación con las cifras séricas de troponina I ni mioglobina (AU)

Introduction: The apnea-hypopnea syndrome (SAHS) is a cardiovascular risk factor and can lead to myocardial stress. Objectives: Assess whether a myocardial stress produces severe SAHS rated this by serum markers. Patients and methods: this is a prospective, observational study of patients with suspected sleep disorders who were asked a polygraphy. We excluded those patients with severe pulmonary or extrapulmonary disease. According to the apnea-hypopnea index (AHI), subjects were assigned to the group with severe SAHS (AHI > 30) or the group without SAHS (AHI <5). We compared the serum levels of troponin I and myoglobin in both groups. Results: we included 48 subjects, 29 with severe SAHS and 19 without SAHS, both groups reported similar in age, gender and body mass index. Patients with SAHS showed an increased number of vascular risk factors, that was statistically significant for hypertension (p = 0.041). For the group without SAHS, patients showed troponin I and myoglobin similar (p > 0.5). In the severe SAHS also was no significant correlation between serum levels of troponin I and myoglobin and the variables of peripheral oxygen saturation at night. Conclusions: Compared to patients without SAHS, those with severe SAHS showed no significant changes in serum markers associated with myocardial stress. The values that determine the degree of nocturnal hypoxemia did not correlate with serum levels of troponin I and myoglobin (AU)

PLP1 gene analysis in 88 patients with leukodystrophy.

Pelizaeus-Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. Eighty-eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex Ligation-dependent Probe Amplification technique and DNA sequencing, and, in duplicated cases of PLP1, gene dosage was completed by using array-CGH. We have identified 21 patients with mutations in the PLP1 gene, including duplications, short and large deletions and several point mutations in our cohort. A customized array-CGH at the Xq22.2 area identified several complex rearrangements within the PLP1 gene region. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.

Papel de la proteómica en la identificación de proteínas diferenciales en pacientes con SAHS / No disponible

Objetivo: Se diseña un estudio con el objetivo de valorar el papel de la proteómica en la identificación de proteínas diferenciales en pacientes con SAHS. Pacientes y métodos: Fueron incluidos 37 enfermos con sintomatología sugestiva de SAHS y un IAH ≥ 5 y un grupo control compuesto por 18 sujetos roncadores, emparejados por IMC, género y edad con el grupo con SAHS en los que se descartó un SAHS (IAH < 5). En ambos grupos se excluyeron a los sujetos que estaban diagnosticados de enfermedad crónica avanzada. En primer lugar se efectuó electroforesis bidimensional que comparó los geles de ambos grupos y estableció los spots diferenciales (sobreexpresión > 2,5 veces el grupo control y subexpresión < 0,5 veces por debajo del grupo control). Posteriormente se realizó espectrometría de masas mediante MALDI /TOF-TOF (matrix laser assisted desorption- time of flight).Resultados: Respecto al grupo control, IAH = 3,5 (3-4,1), en los enfermos con SAHS, IAH = 53 (27-74), mediante MALDI/TOF-TOF se identificó una proteína sobreexpresada, la haptoglobina que se ha relacionado con mayor riesgo vascular en pacientes con SAHS. Igualmente se identificaron dos proteínas subexpresadas, la albúmina y serotransferrina, proteínas que pueden facilitar una disminución de las defensas antioxidantes en el SAHS. Conclusiones: Se aporta el primer perfil proteómico diferencial en pacientes adultos con SAHS. Se demuestra la validez de la proteómica para identificar un conjunto de proteínas diferenciales que puedan ser útiles para el diagnóstico o para establecer un perfil de riesgo vascular (AU)

Objective: a study was designed to assess the role of proteomics in the identification of differential proteins in patient with obstructive sleep apnea-hypopnea syndrome (OSAH). Patients and methods: Thirty seven patients with symptoms suggestive of OSAH and a apnea-hypopnea index (AHI) ≥ 5 were included in the study, and a control group was made up of 18 snorers, matched for BMI, gender and age with the OSAH group in which one OSAH was discarded (AHI < 5). Subjects diagnosed with advanced chronic disease were excluded from both groups. First, two-dimensional electrophoresis was performed, which compared the gels of both groups and established the differential spots (over-expression > 2.5 times the control group and under-expression < 0.5 times below the control group). Subsequently, a mass spectrometry was performed by means of MALDI / TOF-TOF (matrix laser assisted desorption - time of flight). Results: Regarding the control group, mean AHI = was 3.5 (3-4.1), and in those affected with OSAH it was, AHI = 53 (27-74). , Aan over-expressed protein, haptoglobin, was identified by means of MALDI/TOF-TOF, which has been related with a greater vascular risk in patient with OSAH. Likewise, two under-expressed proteins, albumin and serotransferrin, were identified, proteins that can facilitate a decrease of the anti-oxidant defences in OSAH. Conclusions: An initial differential proteomic profile in mature patients with OSAH was found. The legitimacy of proteomics to identify a group of differential proteins that could be useful to diagnosis or establish a profile of vascular risk has been demonstrated (AU)

Valoración de la sobreexpresión proteica en pacientes con SAHS leve / Assessment of the excessive protein expression in patients with minor AHSS

Introducción: El síndrome de apneas-hipopneas del sueño (SAHS) es una enfermedad frecuente y asociada a morbimortalidad en estadios graves. Se postula que el SAHS puede tener una expresión proteíca diferencial respecto a un grupo de pacientes sin SAHS. Se diseña un trabajo para determinar si un estudio proteómico es capaz de identificar proteínas sobreexpresadas en enfermos con SAHS leve. Métodos: A los sujetos se les realizó una historia clínica, exploración física, bioquímica general, polisomnografía diagnóstica y estudio proteómico mediante iTRAQ (isobaric tags for relative and absolute quantification). Se incluyeron 11 pacientes con SAHS, índice de apneas-hipopneas (IAH) ≥ 5, cuyos resultados fueron comparados con un grupo sin SAHS (IAH < 5). Fueron excluidos aquellos con SapO2 ≤ 93% y enfermedad grave de órgano. Resultados: los pacientes presentaron un índice de apneashipopneas de 12 ± 3 y una edad media de 44 ± 7 años. En el SAHS se observaron 3 proteínas sobreexpresadas (ratio > 1.3) respecto al grupo control. Estas proteínas fueron la PRO0684 (gi-6855601), la immunoglobulina lambda de cadena corta VLJ (gi-21669561) y el kininogeno HMW precursor (gi-68785). Las principales funciones y procesos biológicos en los que están involucrados son la inflamación, respuesta inmune y coagulación. Conclusiones: Respecto a un grupo control, en los pacientes con SAHS se observan proteínas sobreexpresadas. Estas proteínas pueden ser de ayuda para el diagnóstico o para aumentar el conocimiento en procesos fisiopatológicos subyacentes. No obstante, son datos preliminares, cuyo alcance debe establecerse en estudios posteriores (AU)

Introduction: The apnea-hypopnea sleep syndrome (AHSS) is a frequent illness, associated to morbidity and mortality in its most serious stages. It has been postulated that AHSS may have a differential protein expression with regards to a group of patients without AHSS. A study has been designed to determine whether or not a proteomic study is able to identify the overly expressed proteins in patients with minor AHSS. Method: Full clinical background was noted for the subjects, as well as physical examination, general biochemical tests, diagnostic polysomnography and proteomic study using iTRAQ (isobaric tags for relative and absolute quantification). Included in the study were 11 patients with AHSS, an apnea-hypopnea index (AHI) ≥ 5, whose results were compared to a control group without AHSS (AHI < 5). Those with SapO2 ≤ 93% and serious organ disease were excluded. Results: the patients presented an apnea-hypoapnea index of 12 ± 3 and an average age of 44 ± 7 years. In AHSS, 3 overly expressed proteins were observed (ratio > 1.3) with regards to the control group. These proteins were PRO0684 (gi-6855601), short immunoglobulin lambda chain VLJ (gi-21669561) and the kininogen HMW precursor (gi-68785). The main functions and biological processes include inflammation, immune response and coagulation. Conclusions: With regards to the control group, patients with AHSS showed overly expressed proteins. These proteins may be helpful in the diagnosis or in increasing knowledge about underlying physical-pathological processes. Nevertheless, this data is preliminary, with scope of which must establish future studies (AU)