Neuropatía sensitiva autonómica hereditaria tipo IIA: manifestaciones neurológicas y esqueléticas tempranas / Hereditary sensory and autonomic neuropathy type II A: Early neurological and skeletal findings

Las neuropatías sensitivas autonómicas son parte de las neuropatías periféricas y se deben a disfunción de genes involucrados en el funcionamiento de las neuronas sensoriales y autonómicas. Se conocen 6 variantes clínicas con subtipos determinados por anormalidad en 11 genes, los diferentes fenotipos varían en la edad de inicio, presencia de disautonomías y patrón de herencia, que con excepción del tipo i son autosómicas recesivas. La neuropatía sensitiva autonómica tipo II se caracteriza por déficit de la sensibilidad al dolor, temperatura y propiocepción. Puede manifestarse al nacer o iniciar entre los 10 y 20 años de edad con úlceras, mutilaciones y amputaciones acrales. En el presente estudio se describe a 3 miembros de una familia con mutación en el gen WNK1 causante de la forma IIA de esta neuropatía hereditaria

The hereditary sensory and autonomic neuropathies are genetic disorders characterized by the loss of sensation including pain, tactile and temperature. Its clinical and molecular features vary widely; the symptoms may begin from birth or be noticed in the first or second decade, with different types of complications of trauma to the extremities such as ulcers, mutilations and acral amputations. They are classified into six groups from I to VI, determined by the abnormality in eleven genes leading to phenotypic variations in the age of onset and the presence or absence of dysautonomia signs. With the exception of type I, all are autosomal recessive. The type II of these neuropathies is characterized by insensitivity to pain, heat and proprioception. We describe three members of a Mexican family with WNK1 gene mutation that caused hereditary neuropathy IIA

Enfermedad periodontal y su relación con estallido respiratorio de los leucocitos polimorfonucleares en pacientes pediátricos con síndrome de Down / No disponible

Objetivo. Comparar el estallido respiratorio de los leucocitos pollimorfonucleares en sangre periférica y conocer su asociación con enfermedad periodontal (EP) en pacientes con síndrome de Down (SD), teniendo un grupo control de sujetos sanos con y sin EP. Métodos. Se efectuó un estudio transversal analítico, incluyendo tres grupos de pacientes: A. 20 pacientes con SD con EP

Objective. To compare the metabolic burst activity of polymorphonuclear leukocytes in peripheral blood and to know its association with periodontal disease (PD) in patents with Down síndrome (DS), having a control group of healthy subjects with and without PD. Methods. A cross sectional study was carried out; patients were divided in three groups: A. 20 DS patients with PD, B. 20 patients without DS but with PD, and C. 20 patients without DS and without PD. To evaluate periodontal disease the following indexes were used: plaque, calculus, gingival, mobility, attachment level, bleeding on probing and marginal bone loss. Burst activity of polymorphonuclear leukocytes in peripheral blood was estimated by flow cytometric assay. Results. Means of final and increased fluorescence showed that there was a statistically significant difference among groups (p=0.0001). All indexes related with PD were increased in DS group; these data shown that DS patients have a diminished function of polymorphonuclear leukocytes. Pronostic stratification indicated that PD is closely associated with SD, independently of the oral hygiene degree. Conclusion. High prevalence and severity of PD in patients with DS suggested that there is a compromised host response that could increase the risk of PD and other oral infections (AU)