Distrofia torácica asfixiante, o síndrome de Jeune, asociada a una malformación espinal cervical / Asphyxiating thoracic dystrophy or Jeune syndrome associated to cervical spine malformation

La distrofia torácica asfixiante, o síndrome de Jeune, es una displasia ósea de herencia autosómica recesiva, con expresión fenotípica variable. El diagnóstico es fundamentalmente clínico y radiológico. Se caracteriza por la presencia de un tórax estrecho y acampanado, polidactilia, costillas horizontalizadas y huesos iliacos cortos, con una alteración típica del techo acetabular en tridente, y suele asociar otras complicaciones: nefrocalcinosis, hepatopatía colestásica, anomalías pancreáticas y retinianas. La distrofia torácica produce hipoplasia pulmonar secundaria e insuficiencia respiratoria restrictiva que puede ser mortal en etapas precoces de la vida. Aunque la existencia de malformaciones espinales no es un hallazgo frecuente, en este caso, el paciente presentaba una malformación de C1 que producía compresión medular. Se realizó una descompresión quirúrgica y, posteriormente, la evolución del paciente ha sido muy favorable. Concluimos que debe realizarse siempre el cribado de malformaciones espinales en pacientes afectados de este síndrome, ya que su tratamiento puede contribuir significativamente a mejorar su pronóstico y calidad de vida(AU)

Asphyxiating thoracic dystrophy-Jeune syndrome is an autosomal recessive disease. It is part of a group of skeletal dysplasias with great clinical variability. Diagnosis is based on clinical and radiographic findings: the syndrome is characterized by a small, narrow chest, variable limb shortness, postaxial polydactyl, horizontally oriented ribs, and short iliac bones with a typical trident appearance of the acetabula. Renal, hepatic, pancreatic and ocular complications may occur later in life. As result of the thoracic dystrophy a lung hypoplasia is produced and a lethal respiratory distress during neonatal and infancy period may occur as well as multiple respiratory infections. Despite spine malformations are not frequently associated, we present a patient who had C1 malformation with cord compression. Surgical cord decompression was done and probably was determinant in his course. We concluded that the screening of spinal malformation in these patients should be always done because it treatment could improve their prognosis and quality of life(AU)

Ictus isquémico tras infección por varicela / Ischemic stroke after varicella infection

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Alteración pulmonar y renal en síndrome de Stevens-Johnson de evolución fatal. Estudio anatomopatológico / Fatal respiratory and renal manifestation of Stevens-Johnson syndrome. Pathological anatomical study

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Hipoxemia y oxigenoterapia no invasiva / Hypoxemia and non-invasice oxygen therapy

En este trabajo se exponen los diferentes dispositivos existentes para mejorar la oxigenación de forma no invasiva. Asimismo se hace una revisión acerca de los mecanismos fisiopatológicos de la hipoxia y la hipexemia, así como de sus manifestaciones clínicas: cianosis central y periférica y síntomas sistémicos. También hacemos referencia a los diferentes métodos de diagnóstico y monitorización: gasometría arterial, venosa y capilar, monitor transcutáneo de oxígeno y pulsioxímetro. Finalmente se describen los sistemas de administración de oxígeno no invasivos, exponiendo sus indicaciones, ventajas e inconvenientes, mencionando la terapia con Helliox (AU)

[Microalbuminuria in arterial hypertension]. / Microalbuminuria en la hipertensión arterial.

Microalbuminuria is a considerable good indicator of atherogenic disease and cardiovascular risk. In the arterial hypertension, the main centre organ is the kidney. Structural and functional changes that happen in the hypertensive nephropathy are going to cause alterations m the albumin urinary excretion. The authors have done a revision of the main factors which can origin the existence of microalbuminuria in patients with arterial hypertension, and they conclude that this is an useful biochemist indicator in order to evaluate the degree of renal disease in these patients.

[Objective evaluation of a pediatric intensive care unit without continuous attendance (I)]. / Valoración objetiva de una UCI pediátrica de referencia sin atención continuada. (I).

Eight-hundred and nine consecutive admissions have been reexamined by means of analysis of record cards made out at the moment of discharge from the ICU, in which, among other data, the TISS and PSI maximum for the first six hours from admission are included. The results obtained are the following: 50% of the admissions were classified as medium care (PSI < 5, TISS < 20), 28% were grade IV (PSI > 12, TISS > 40), and half were of grade III with a PSI of 9.38 and a TISS of 20.29. The overall mortality was 8.9%. However, the mortality for grades III+IV was 13.4% and gave a good correlation with the PSI, but not with the TISS. The PSI/TISS ratio was 0.45 and the predicted mortality rate according to the PSI was 6.1% for grade III and greater than 12% for grade IV. We conclude the following: (1) Of the illness, 28% were grade IV. (2) We observed a deficient PSI/TISS ratio. (3) The evaluation has to be done by objective means in which the capability of carrying out different methodologies has not been taken into account.