Schindler disease is a recently recognized infantile neuroaxonal dystrophy resulting from the deficient activity of the lysosomal hydrolase, alpha-N-acetylgalctosaminidase (alpha-GalNAc). The recent...Full Text Available
SummaryCongenital lobar emphysema (CLE) characterized by over distension and air-trapping in the affected lobe is one of the causes of infantile respiratory distress requiring...Full Text Available
y la gripe La diabetes y la gripe Las enfermedades cardÃacas y la gripe El VIH (SIDA) y la gripe Personas con incapacidades Adultos mayores Cuidadores Viajeros Personas que...
Lobar emphysema is an uncommon cause of respiratory distress in infancy. Congenital heart disease is seen in about 20% of the patients with infantile (congenital) lobar emphysema. We described six infants with lobar emphysema. In three of them a congenital heart disease was demonstrated by cardiac catheterization and cineangiography; two had a tetralogy of Fallot with right aortic arch and the third infant a ventricular septal defect. The pulmonary angiography showed stretching of the arteries with very poor filling of the peripheral arteries and a characteristic smaller pulmonary vein in the affected lobe. In all the six patients the pulmonary artery pressure was normal. All the patients underwent lobectomy with good results. We feel that a preoperative cardiac catheterization and cineangiography is of value in this very sick group of infants. (orig.).
Objetivo Estudiar la evolucion de un grupo de neumonias extrahospitalarias causadas por germenes atipicos (Mycoplasma pneumoniae, Legionella spp., Coxiella burnetii y Chlamydophila pneumoniae) en funcion del tratamiento empirico recibido. Pacientes y metodos Entre enero de 1996 y febrero de 2001 ingresaron en nuestra unidad 390 casos de neumonia, de los que 89 estaban causados por germenes atipicos. Los pacientes se dividieron retrospectivamente en 2 grupos segun el tratamiento empirico pautado: grupo A, al que se habia proporcionado cobertura frente a germenes atipicos (quinolonas o macrolidos), y grupo B, al que no se habia proporcionado dicha cobertura. Se estudio la evolucion segun las diferencias entre ambos grupos en la estancia hospitalaria, la resolucion radiologica, el reingreso e...
We followed 183 infants for two years, 31 of whom were breast fed less than three and a half months (median 70 days; short breast feeding group) and a further 31 of whom were exclusively breast fed...Full Text Available
The objective of this work is to verify whether the home-made teas form Brazilian plants, used for control of childish diarrhea have been efficient reaching the composition recommended by World Health Organizations (WHO). This work has been carried out using the neutron activation analysis and the TRIGA MARK I reactor, the IPR-R1, in the Centro de Desenvolvimento da Tecnologia Nuclear - CDTN. (author). 4 refs., 2 tabs.
Resumen Estudios epidemiologicos recientes, muestran claramnete la incidencia de la disfuncion erectil con la edad. Por lo tanto, los profesionales sanitarios que se ocupan de las personas de edad avanzada, deberian preparar cuidadosamente el diagnostico y el abordaje de la disfuncion erectil. Es innegable que la introduccion de los inhibidores de la fosfodisterasa tipo 5 (PDE5Is) ha revolucionado el tratamiento de la disfuncion erectil. Los clinicos deberian conocer el potencial de los efectos adversos asociados con el uso de PDE5Is cuando se aconseja a los pacientes. Otras terapias suplementarias y de segunda/tercera linea para la disfuncion erectil, que incluyen las inyecciones intracavernosas, la aplicacion transuretral de medicacion, la testosterona, los sistemas de vacion peneano, la...
Introduccion y objetivos La enfermedad renal oculta (ERO) es una entidad que define los estadios mas iniciales de insuficiencia renal y no se detecta con los metodos usados habitualmente. El objetivo es determinar la prevalencia de ERO en los pacientes hipertensos en consultas de cardiologia y su relacion con los distintos factores de riesgo y tratamientos cardiovasculares. Metodos. Estudio observacional, transversal, retrospectivo y multicentrico que se llevo a cabo en 1.214 hipertensos de consultas de cardiologia. Resultados . Se analizo a 1.190 pacientes (98%). El filtrado glomerular (FG) fue calculado (MDRD) por el cardiologo responsable en el 11% de los pacientes. Tras su determinacion a posteriori, el 9,5% presentaba ERO, mas probablemente mujeres, con mas edad, mas antecedents de di...
Characterisation of the classification of brain tumours authorised by the WHO. Method of appraisal: This classification was revised and published in its second version. In the revision, some tumours were regrouped histogenetically and some tumour variants were added. Radiologically relevant changes of the classification include the differentiation of four new tumour entities that are easily distinguished by MR imaging. These four tumours belong to the group of childhood tumours or tumours occurring in early adulthood and are characterized by a good prognosis after extirpation. Results of appraisal: Central neurocytomas are small-cyst ventricular tumours associated with the foramen of Monroi and show moderate contrast enhancement. Infantile desmoplastic gangliogliomas/astrocytomas commonly consist of a solid tumour portion related to the leptomeninges with pronounced contrast enhancement and a typically very large cyst. Pleomorphic xanthostrocytomas are ...
Placental insufficiency, inducing hypoxia-ischaemia, is considered a major cause of neuronal injury and impaired post natal development. Placental insufficiency alters the metabolism of arachidonic acid and its oxidation products. Premature labour and low-birth-weight infants are associated with reduced intrauterine blood-flow and infections of the reproductive tract. Thyroidal activity is depressed in undernutrition (placental insufficiency). Premature infants require extra vitamin C for normal tyrosine metabolism (tyrosine is the thyroxine precursor). Among the symptoms indicating infantile cretinism, which appear during 3-5 months of age are: delayed union of skull bones, torpid behaviour, slow feeding, cyanosis during feeding, excessive sleepiness, enlarged tongue, umbilical herniation, flabby musculature, short stature and delayed development. These symptoms have all been described in low-birth-weight infants and sudden infant death syndrome victims by various ...
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. Despite seizure control most patients have intellectual disability. Folinic acid responsive seizures (FARS) are genetically identical to ATQ deficiency. ATQ functions as an aldehyde dehydrogenase (ALDH7A1) in the lysine degradation pathway. Its deficiency results in accumulation of ?-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF. To interrupt seizures a dose of 100mg of pyridoxine-HCl is given intravenously, or orally/enterally with 30mg/kg/day. First administration may result in respiratory arrest in responders, and thus treatment should be performed with support of respiratory management. To make sure that late and masked response is not missed, treatment with oral/enteral pyridoxine should be continued until ATQ ...
Macrocephaly was defined as a head measuring larger than 98th percentile. We have evaluated CT findings and head growth curves in 25 infants with large heads. Ten (40%) of 25 infants with large heads were normal developmentally and neurologically. Five (20%) of those were mentally retarded. The other 10 infants (40%) included hydrocephalus (4 cases), malformation syndrome (3 cases), brain tumor (1 case), metabolic disorder (1 case) and degenerative disorder (1 case). Their head growth curves were typed as (I), (II) and (III): Type (I) (excessive head growth curve to 2 SDs above normal); Type (II) (head growth curve gradually approached to 2 SDs above normal); Type (III) (head growth curve parallel to 2 SDs above normal). Ten of macrocephaly with normal psychomotor development were studied clinically and radiologically in details. They were all male. CT pictures of those showed normal or various abnormal findings: ventricular dilatations, wide frontal and temporal subdural spaces, wide ...