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Biomedical subjects

J Leisti

Publications and source records attributed to J Leisti.

At least 55 records · Page 3Linked to original sources
PubMed1992

Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.

A family having two boys with progressive encephalomyopathy and fumaric aciduria due to fumarase deficiency is described. Both patients initially presented with polyhydramnios and enlarged cerebral ventricles in utero, with subsequent cerebral atrophy, severe developmental delay, infantile spasms, and hypsarythmia on electroencephalogram. Fumarase activity in blood mononuclear cells and in the mitochondrial and cytosolic fractions of cultured skin fibroblasts was less than 0.5% of the control mean or undetectable. The older boy died at the age of 5 years and 4 months and the younger one is now 2 years and 10 months. The unrelated parents are symptomless and the other three children in the family are clinically healthy. Fumarase activities in the blood mononuclear cells of the father, mother, sister, and two brothers were 59%, 52%, 52%, 120%, and 44% of the control mean, respectively. The results strongly support autosomal recessive inheritance of fumarase deficiency and suggest its consideration in children with congenital hydrocephalus, progressive brain atrophy, and infantile spasms.

Cells, Cultured↗
PubMed1991

Uridine enhances expression of the fragile X chromosome in human lymphocytes.

We have studied the effect of uridine on the expression of fragile X (fra[X]) in lymphocyte cultures established in the folate and thymidine deficient medium TC199. The results indicate that uridine enhances the expression of fra(X) and gives a higher mitotic rate. The excess of uridine during DNA synthesis might further promote the previously suggested cycle of misincorporation and removal of deoxyuridine monophosphate when the pool of deoxythymidine triphosphate is continuously depleted.

Culture Media↗
PubMed1990

Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population.

Three polymorphic loci APOC2, CKMM and p134C were used to haplotype 15 Finnish dystrophia myotonica (DM) families representing about one third of all DM patients in this isolated population. Compound APOC2 and CKMM haplotypes reveal linkage disequilibrium: 90% of DM chromosomes co-occur with the haplotypes that occur in 31% of normal chromosomes only. The same disequilibrium is present when only polymorphisms occurring at the APOC2 locus are used. Surprisingly, no statistically significant linkage disequilibrium was discovered at the CKMM locus alone. Of the meiotic events, 84% were informative when both APO2 and CKMM loci were used. When studied selectively, 60% of meiotic events were informative at the APOC2 locus, whereas CKMM alone resulted in 65% meiotic informativeness. The distal marker p134C was found to have an unfortunately low information content in our population.

Alleles↗
PubMed1990

Prenatal diagnosis of single gene disorders in northern Finland.

Prenatal diagnosis of single gene disorders is challenging because of the multidisciplinary diagnostic approach and the genetic counselling needed. Out of 3100 pregnancies of northern Finnish women studied for early detection of congenital defects or genetic disease, 110 were at risk for and 15 were unexpectedly found to carry a fetus with a single gene disorder. Seven of the 21 diseases studied were typically representative of inherited diseases in northern Finland. The diagnostic approaches used included fetal ultrasonography, analysis of the components of the amniotic fluid, fetal enzyme analysis, fetal karyotyping for the fragile X syndrome, and fetal DNA analysis. Altogether, 50 pregnancies were found to be affected; 11 of these were continued because the diagnosis was too late for termination, and seven because the parents wanted it. Prenatal diagnosis of severe hereditary disease can be enhanced by improving the detection of pregnancies at risk, and by developing methods for earlier fetal diagnosis.

Adult↗
PubMed1989

Muscle-eye-brain disease (MEB)

Clinical features of a rare congenital myopathy, muscle-eye-brain (MEB) disease, are described in 19 patients. The pedigree data suggest an autosomal recessive inheritance. The patients presented with congenital hypotonia and muscle weakness. Serum CK was elevated, EMG was myopathic and muscle biopsy showed slight or moderate changes compatible with muscular dystrophy. Ophthalmological findings included severe visual failure and uncontrolled eye movements associated with severe myopia. The flash VEPs were exceptionally high, whereas non-corneal ERG was unrecordable. The EEG showed progressive abnormalities after the age of 6 months. Psychomotor development was slow during the first years of life, and mental retardation was severe. Most patients began to deteriorate around age 5 years. This change included spasticity and joint contractures. CT scans showed ventricular dilatations and abnormally low white matter density in several patients. Spasticity, high VEPs and ocular manifestations differentiate MEB from the Fukuyama type congenital muscular dystrophy.

Adolescent↗
PubMed1988

Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma.

A rare malignant lymphoepithelial lesion (MLEL) of the parotid gland is described in a mother and daughter within one Finnish family. Several cases of dominantly inherited trichoepithelioma were observed in the same family. This is the third published case of familial MLEL, and the first in whites. The simultaneous occurrence of MLEL with hereditary trichoepithelioma is a new finding and may suggest a common genetic background and/or etiology.

Female↗
PubMed1988

A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases.

We performed a neuropathological study on 5 fetuses with an autosomal recessive, lethal syndrome of congenital contractures diagnosed by fetal hydrops on ultrasonography. The fetuses showed a typical pattern of malpositioning of hips and knees with occasional pterygia of the neck and elbows. The muscles were hypoplastic and the spinal cords showed severe thinning, most markedly affecting the ventral half. A total loss of axons in the ventral and lateral funiculi, subtotal loss of anterior horn motor neurons with accompanying astrocytosis and astrogliosis, and similar but less severe changes at the brain stem level suggested a degenerative rather than a dysmorphogenetic mechanism. Sensory nuclei and pathways were distinctly less severely affected, if at all. The findings further delineate this condition as a genetically and pathoanatomically distinct autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1987

Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures.

An ultrasonic diagnosis of a lethal, autosomally recessive syndrome of multiple congenital contractures was made in seven high-risk pregnancies on the 13rd to 17th gestational weeks. The diagnostic findings were the development of progressive subcutaneous oedema from the 13th gestational week on and the decrease of fetal limb movements.

Abnormalities, Multiple↗
PubMed1987

Prevalence of the fragile X syndrome in four birth cohorts of children of school age.

The prevalence of the fragile X syndrome among 12,882 children (6594 boys and 6288 girls) born during the years 1969-1972 in Kuopio province in eastern central Finland has been studied retrospectively. Mentally retarded children were selected from normal schools by using school achievement tests and from registers of mentally retarded individuals. In the present study fragile X syndrome was found in 6/111 mentally retarded children (5.4%), in 4/61 boys and in 2/50 girls, respectively. It was not detected in the control group of 85 healthy children. The corrected prevalence of fragile X syndrome among boys in four successive birth cohorts was estimated to be 1 in 1210 or 0.8/1000, and that among girls, 1 in 2418 or 0.4/1000. The overall prevalence was calculated to be 1 in 1612 or 0.6/1000 children.

Child↗
PubMed1987

A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.

Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles. The conclusion is that the peculiar myopathic and degenerative findings in the muscle biopsy are a consistent morphological feature in the clinical entity of the patients and the syndrome is distinctive from Marinesco-Sjögren syndrome.

Adolescent↗
PubMed1986

Frequency of rare fragile sites among mentally subnormal schoolchildren.

The frequency of rare fragile sites was studied among 240 children in special schools for subnormal intelligence (IQ 52-85). 1/130 boys studied (0.8%) had the fragile site at Xq27.3 while it was not found in any girl (0/110). In two children an autosomal rare fragile site at 2q11.2 (2/240, 0.8%) was seen. In addition a constitutional chromosome abnormality was found in a further seven children (7/240, 2.9%).

Adolescent↗
PubMed1985

A lethal autosomal recessive syndrome of multiple congenital contractures.

We describe 16 cases of a lethal syndrome with multiple congenital contractures from ten families. The main clinical findings included intrauterine growth retardation with marked fetal hydrops, multiple contractures, and facial abnormalities, especially micrognathia. At autopsy, pulmonary hypoplasia and muscular atrophy were present. There was a paucity of anterior horn motor neurons in the four studied cases. We think that the cases represent the same clinical entity, probably caused by homozygosity of an autosomal recessive gene. The syndrome resembles the Pena-Shokeir I syndrome, but seems to differ in some respects, including length of survival and presence of hydrops. Prenatal diagnosis of this syndrome is possible after the 16th week of pregnancy with ultrasound.

Contracture↗
PubMed1985

The incidence of Down syndrome in northern Finland with special reference to maternal age.

The incidence of live-born children with Down syndrome was found to be 1.73/1000 (1:578) in northern Finland over the years 1965 to 1979. Despite a marked reduction in the proportion of older mothers, no significant change in the incidence was observed. Instead, an age-specific rise in the incidence for mothers aged 25 to 29 years could be shown during the last five-year period in years 1975 to 1979.

Adult↗
PubMed1985

Partial trisomy 12q: clinical and cytogenetic observations.

High resolution chromosome banding showed a male infant with profound mental retardation, hypertonia and multiple congenital anomalies to have the karyotype 46,XY,-der (2),t(2;12)(q37.3;q24.13)pat. Most of the clinical findings were compatible with those of the previously described cases with partial trisomy 12q. Some of the clinical features seem to disappear with increasing age.

Child↗