Search PubMed⌕ Search

Biomedical subjects

A Nuutila

Publications and source records attributed to A Nuutila.

30 records · Page 2Linked to original sources
PubMed1971

A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, x-chromosomal retinoschisis and grouped pigments of the retina.

1) Dystrophia retinae dysacusis syndrome: Two different recessively inherited forms have been observed among 133 cases diagnosed in Finland--a country with a population of 4.6 million. 2) X-chromosomal retinoschisis: A series of 179 ophthalmoscopically verified familial cases is reported. The loci for Xg and retinoschisis are within measurable distance on the X-chromosome, but deutan dyschromatopsia is far from these. 3) Grouped pigments of the retina: No evidence of heredity was detected among 23 cases on the basis of the last four to six generations. The sex ratio is 15:8.

Adolescent↗
PubMedDate not supplied

Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings.

Six patients with a variant type of Jansky-Bielschowsky (JBVD) disease were examined using 3 different imaging methods. Five of the patients underwent computed tomography, 4 magnetic resonance imaging, and 5 single photon emission computed tomography. All patients had brain atrophy that was most severe in the cerebellum. Magnetic resonance imaging demonstrated the parenchymal abnormalities well; all patients had hyperintense periventricular white matter, especially around the bodies and atria of the lateral ventricles, and a significant decrease in signal intensity in the thalami and/or putamina. Single photon emission computed tomography disclosed hypoperfusion of the cerebellum in all patients. Neuroimaging examinations are valuable in the diagnosis of JBVD. It may be difficult to divide patients with neuronal ceroid-lipofuscinosis disorders into clinical subtypes in the early stage of the disease. Magnetic resonance imaging, especially when combined with a typical clinical pattern, makes the diagnosis of JBVD highly likely. Radiologic examinations of the brain may also prove important in following the progression, as well as in investigating the pathophysiology, of the disease.

Atrophy↗
PubMedDate not supplied

West syndrome: individualized ACTH therapy.

Individualized ACTH treatment of the West syndrome (WS) was assessed in a prospective multicenter study, in which each patient's dosage was increased stepwise according to response. Our series included six patients with cryptogenic and 24 with symptomatic infantile spasms. During the treatment period the total ACTH dose ranged from 58 to 373 i.u./kg. In the cryptogenic group one patient responded to pre-ACTH pyridoxine and four to the lowest dosage of ACTH (3 i.u./kg daily) with cessation of spasms and good outcome; one patient needed the highest dosage (12 i.u./kg daily) for cessation of seizures and became developmentally retarded. In the symptomatic group, 21 of the 24 patients needed 6-12 i.u./kg daily; 12 became seizure-free or having infrequent non-IS fits. Complications such as arterial hypertension, cerebral ventricle dilatation, cardiac hypertrophy, and prolonged adrenocortical hyporesponsiveness were related to the dose. The individualization provides all the benefits of ACTH treatment with minimal side effects and cost.

Adrenocorticotropic Hormone↗