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Biomedical subjects

H Heiskala

Publications and source records attributed to H Heiskala.

29 records · Page 2Linked to original sources
PubMed1989

Comparison of the clinical courses in patients with juvenile neuronal ceroid lipofuscinosis receiving antioxidant treatment and those without antioxidant treatment.

Juvenile neuronal ceroid-lipofuscinosis (JNCL) is a progressive encephalopathy characterized by a neural and extraneural accumulation of ceroid and lipofuscin like storage cytosomes and by an autosomal recessive inheritance. It begins with a gradual loss of vision at the age of 4-7 years and is accompanied by epilepsy, a loss of motor function, and a progressive dementia (Santavuori 1988). We have studied 26 Finnish JNCL patients treated with vitamins E, B2, B6 and sodium selenite (antioxidant treatment) by using a JNCL disease specific scoring system introduced by Kohlschütter et al. (1988). Scores were given for the problems of vision, intellect, language, motor function, as well as epilepsy, and compared with the data of 17 German JNCL patients not treated with antioxidants (Kohlschütter et al. 1988). Loss of vision began at the same time among the Finnish and the German JNCL patients. However, loss of intellectual, language, and motor functions and total blindness occurred later among the group of Finnish JNCL patients treated with antioxidants. Courses of the epileptic seizures were rather heterogenous and slightly favouring the Finnish patients. This study supports the theory that antioxidant treatment retards JNCL disease. The study design, however, contains many possible biases, so that the results must be interpreted cautiously.

Antioxidants↗
PubMed1988

Placental pathology and prenatal diagnosis of infantile type of neuronal ceroid-lipofuscinosis.

Five term placentae from pregnancies at risk of infantile neuronal ceroid-lipofuscinosis (INCL) were studied electron-microscopically to determine if diagnostic cytoplasmic inclusions could be detected in this tissue. In 4 placentae no inclusions were found, and the infants born from these pregnancies have developed normally, the shortest observation time being 15 months. In the fifth placenta numerous cytosomes pathognomonic of INCL were found in the amniotic cells and the endothelium of the capillaries of the chorionic villi. The diagnostic significance of this finding was confirmed by the presence of typical inclusions in the autonomic ganglion cells and other cells in a rectal mucosal biopsy specimen of this male infant at the age of 3 months. Electron microscopic study of chorionic villus biopsy specimens appears to be a promising possibility for prenatal diagnosis of INCL.

Chorionic Villi↗
PubMed1988

Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses.

The neuronal ceroid-lipofuscinoses (NCLs) are a group of recessively inherited neurodegenerative lysosomal storage diseases, the pathogenesis of which is unknown. In the present study, we have measured iron and cooper in cerebrospinal fluids (CSF) using methods that detect these metals in a "loosely bound" form, complexable to the chelators bleomycin and 1,10-phenanthroline. We studied 25 children with NCL, 21 children with encephalopathy of some other type, and 5 control children without neurological complications. The CSF concentrations of loosely bound iron at neutral pH values and of loosely bound copper did not correlate with the clinical diagnosis of the patients, nor did they parallel degenerative symptoms in NCL, such as mental impairment, visual loss, motor handicap, and epilepsy. However, the concentrations of loosely bound iron and copper increased significantly with the age of the patient; this is a novel finding and may represent increasing tissue destruction with age. Our present findings do not support a major role for primary iron toxicity in the development of neuronal degeneration. To investigate any secondary pathological role for malplaced transition metals, further research is required.

Biomarkers↗
PubMed1988

Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease.

During the last 17 yr, 74 patients with Spielmeyer-Sjögren disease were treated in Finland with antioxidant supplementation. Twenty-seven patients received a combination of vitamin E, vitamin C, methionine and BHT. As the disease began to progress, the treatment was changed to a combination of sodium selenite and vitamin E in 14 of the 27 patients. The same combination was also given to 47 children (During the last 5-6 yr, vitamins B2 and B6 were also added.) who had not received previous antioxidant supplementation. The latter combination (called the Westermarck formula) appeared to be helpful to some patients. Statistical correlations between various neurological items and relevant laboratory data were sought. In the older patients a significant correlation was found between neurological dysfunction and ceruloplasmin, and also between epilepsy and ceruloplasmin, while a negative correlation was noticed between neurological dysfunction and glutathione peroxidase. In the younger patients, a negative correlation was observed between superoxide dismutase and epilepsy. Serum apolipoprotein B levels were below the normal range in the 6 patients investigated. So far the Westermarck formula seems to have been the best treatment devised yet in Spielmeyer-Sjögren disease, but further studies are needed for a better understanding of the pathogenesis of neuronal ceroid-lipofuscinoses disorders.

Adolescent↗
PubMed1988

Microangiopathy with encephalopathy, hearing loss and retinal arteriolar occlusions: two new cases.

Two young women developed encephalopathy, hearing loss and retinal arteriolar occlusions. Their behaviour became immature and cognitive functions were severely impaired. One of the patients underwent brain biopsy, which showed several microinfarcts in both white and grey matter and microangiopathic changes, with thickened arteriolar segments staining intensely for laminin and fibronectin. These findings support the concept of a new type of microangiopathy involving the brain, inner ear and retina.

Adult↗
PubMed1986

Superoxide dismutase isoenzymes in cerebrospinal fluid and plasma from patients with neuronal ceroid-lipofuscinoses.

The neuronal ceroid-lipofuscinoses is a group of diseases characterized by a widespread accumulation in the body of pigments believed to be end-products of lipid-peroxidation damaged organelles. It was recently shown that cerebrospinal fluid from patients with infantile and juvenile neuronal ceroid-lipofuscinosis were less protective against superoxide radical-induced hydroxyl radical formation compared with controls. The content of superoxide dismutase isoenzymes in cerebrospinal fluid and in plasma from patients with different forms of neuronal ceroid-lipofuscinosis was analysed. No significant difference from controls could be demonstrated in samples from patients with juvenile neuronal ceroid-lipofuscinosis. The few samples from patients with infantile and late infantile neuronal ceroid-lipofuscinosis analysed all fell within the range defined by the controls.

Adult↗
PubMed1976

Plasma free tryptophan variation during oestrous cycle of the rat.

The concentration of plasma free tryptophan was shown to undergo a regular and statistically significant fluctuation through the four phases of the oestrous cycle of the rat. The highest concentration of plasma free tryptophan was observed during oestrus. During metoestrus the concentration of plasma free tryptophan decreased by 25% to the lowest observed level; thereafter it gradually increased during dioestrus and pro-oestrus. The concentration of plasma total tryptophan was found to be unchanged during the oestrous cycle of the rat.

Animals↗
PubMedDate not supplied

Brain perfusion SPECT in children with frequent fits.

We studied 14 children with frequent fits using 99mTc-HM-PAO single photon emission computed tomography (SPECT). There were 11 patients with partial secondary generalized epilepsy (PSGE) and 3 with Lennox-Gastaut syndrome (LGS). The typical regional cerebral blood flow (rCBF) finding in PSGE was a single area of abnormally low perfused cortex, and that in LGS, multiple hypoperfused areas. Clinically, the LGS patients were more severely affected. SPECT was more sensitive in detecting abnormalities than EEG, CT or MRI. Extensive impairment of rCBF may thus indicate unfavourable development of intellectual performance and poor seizure control.

Adolescent↗
PubMedDate not supplied

Cortical sensory evoked potentials and communicative forebrain functions.

Cortical evoked potentials were measured to visual, auditory and somatosensory stimuli in 20 subjects with serious neurodevelopmental impairments due to various etiologies. The results were compared with behavioral observations to find out whether the absence/presence of the responses corresponded to the level of social functioning. No cortical evoked potentials were elicited in two subjects, responses to the stimulation of one modality were missing in three subjects (retinal b-waves and brainstem auditory and somatosensory evoked potentials were, however, preserved in them). No communicative behavior was observed in subjects with absent responses. Ten subjects had marked deviations in the evoked potentials, the behavioral observations in them, ranging from no communication to sentenced speech. Five subjects had normal response patterns and they showed a great variety of communicative skills, including speech. The results support the view that bilateral loss of cortical somatosensory, visual, and auditory evoked potentials is a sign of loss of neural substrates of communication.

Adolescent↗
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↗