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Biomedical subjects

S Similä

Publications and source records attributed to S Similä.

At least 19 recordsLinked to original sources
PubMed1991

Underweight and overweight cases among the mentally retarded.

The body mass index (BMI) was calculated at the age of 20 for all the 132 survivors (83%) out of the 159 mentally retarded individuals born in 1966 in Northern Finland. Reliable information was acquired for 112 cases (84.8%). The mean BMI for these cases did not deviate significantly from that for an average Finnish population at age 20-29 years. It was found that 41.5% of the slightly retarded cases (IQ 35-70) and 28.6% of the seriously retarded ones (IQ less than 35) were of ideal weight (BMI 20-24), while 9.8% of all the retarded individuals were moderately obese (BMI greater than 30) and 7.1% seriously so (BMI greater than or equal to 32). Ninety-one per cent of the seriously obese cases lived with their parents and did not participate in any occupational therapy or work. A total of 29.5% of the mentally retarded subjects were underweight (BMI less than 20), a condition which would seem to be above all a problem for seriously retarded individuals and an obvious consequence of the different feeding and dietary problems connected with their multiple disabilities.

Adult↗
PubMed1990

Development of bowel and bladder control in the mentally retarded.

For the mentally retarded, bowel and bladder control are important prerequisites for an independent life. A study of these functions was made in a cohort of children born in Northern Finland in 1966. Relevant data up to the age of 20 years were obtained for 105 of the 132 children with mental retardation (IQ less than 70) who were alive at that age. 80 per cent had attained bowel control at a mean age of 4.2 years, but 30.5 per cent were still encopretic at seven years, and 19 per cent at the age of 20 years. Full bladder control had been achieved by 62.9 per cent at the age of seven and by 82.9 per cent at the age of 20. It is concluded that systematic, appropriate toilet training could improve these figures markedly.

Adult↗
PubMed1990

Coexistence of celiac disease and Down syndrome.

Three patients with Down syndrome and celiac disease were described. The incidence of celiac disease among patients with Down syndrome was calculated to be 8 per 1,000 live-born cases, a figure 20 times greater than in children without Down syndrome, indicating that it should be kept in mind when examining patients suffering from recurrent diarrhea and/or delayed puberty.

Adolescent↗
PubMed1989

Coping with a coeliac diet after adolescence.

42 out of 45 adults aged 18-26 years (93%) diagnosed in childhood as having coeliac disease (CD) returned a questionnaire reviewing how they coped with the diet. 27 (64%) still continued to take a strict gluten elimination diet, five had failed completely and ten partly keep it up. Those adhering to the diet more often demonstrated a good knowledge of both CD and the diet. Neither age at the time of diagnosis nor social class, education of the patients or present social status was observed to have any positive correlation with compliance with the diet. The results indicate a need for more practical education of patients in terms of short refreshment courses.

Adaptation, Psychological↗
PubMed1988

Neuropathology of Salla disease.

A neuropathological study was performed on two patients with Salla disease, one male and one female, from different families. They both died at the age of 41 years. Both patients showed increased excretion of free sialic acid in the urine, psychomotor retardation starting in the 1st year of life, ataxia and spasticity. Several family members of both families were affected with the same disease indicating the hereditary character of the disorder. The neuropathological investigation revealed strikingly similar changes in the two cases. Macroscopically the cerebral white matter was severely reduced. Histologically marked loss of axons and myelin sheaths was accompanied by pronounced astrocytic proliferation. The remaining axons frequently showed ovoid swellings surrounded by a myelin sheath. The reduction of the number of myelin sheaths seemed proportional to the numerical reduction of axons. Many cortical nerve cells displayed in relation to age an abnormal amount of lipofuscin. Neurofibrillary tangles were observed in nerve cells of the neo-cortex, nucleus basalis of Meynert and locus ceruleus. Cerebellum showed moderate loss of Purkinje cells. In the spinal cord axonal degeneration was observed in both ascending and descending tracts.

Adult↗
PubMed1986

Mortality of mentally retarded children to 17 years of age assessed in a prospective one-year birth cohort.

Mortality among children with mental retardation (IQ less than 71) and mental subnormality (IQ: 71-85) up to the age of 17 years was studied in the 1966 one-year birth cohort of Northern Finland. The 12,058 liveborn children included 97 children, 8.0 per thousand, with severe mental retardation (IQ less than 50) and 68 children or 5.6 per thousand with mild mental retardation (IQ: 50-70). In addition, there were 162 children or 13.4 per thousand who were mentally subnormal (IQ: 71-85). The death rate among the children with mental retardation was 158 per thousand as compared to 22.6 per thousand among children with normal intelligence and was significantly higher among the mentally retarded of all ages. This is mainly an effect of the very high mortality in children with severe mental retardation, predominantly cases of Down's syndrome. It is concluded that mental retardation per se is not necessarily associated with an increased death rate, but the underlying etiology or additional complicating disorders may predispose the child to infections in particular, these being the leading cause of death among the mentally retarded children studied here.

Adolescent↗
PubMed1985

Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes.

In this study peripheral blood smears from 29 patients (17 males and 12 females; mean age 28 years, range 3-65 years) with a confirmed diagnosis of the Finnish type of sialic acid storage disease (FSASD) and 200 controls with mental retardation without any evidence of metabolic disease were examined for the presence of vacuolated lymphocytes. Urine samples were analysed by thin-layer chromatography for free sialic acid. Only 62% of the patients with FSASD had a clearly increased percentage of vacuolated lymphocytes (greater than normal mean + 2 s.d.). In thin-layer chromatography all the FSASD patients gave a positive test result. No false positive or negative results were obtained. Electronmicroscopical examination of peripheral blood lymphocytes demonstrated only non-specific changes in a few cells. Examination of peripheral lymphocytes for vacuoles is not a reliable screening test for FSASD. The screening method of choice is the analysis of free sialic acid by thin-layer chromatography.

Adolescent↗
PubMed1985

Antipyretic effect of tenoxicam and paracetamol in febrile children.

The antipyretic activity of tenoxicam was compared with that of paracetamol. Thirty-eight inpatients aged between 6 months and 16 years, with a rectal temperature of above 38.5 degrees C, were divided into four groups. Patients received tenoxicam (0.3, 0.6 or 1.2 mg/kg) or paracetamol (10 mg/kg) in a single oral dose. Rectal temperatures were recorded before admission, 30 min and 1, 2, 3, 4, 5 and 6 h after administration of the drug. The fall in temperature was significant in the paracetamol group and in one tenoxicam group with a dose of 1.2 mg/kg. Doses of 0.3 and 0.6 mg/kg of tenoxicam had only a slight effect. It was concluded that tenoxicam has a slight antipyretic effect, but is not an alternative to paracetamol as an antipyretic drug in the treatment of fever in children.

Acetaminophen↗
PubMed1983

Problems of prenatal diagnosis of non-ketotic hyperglycinaemia.

Non-ketotic hyperglycinaemia (NKH) is a rare disorder of amino acid metabolism, causing severe, frequently lethal neurological symptoms in the neonatal period. There is no curative therapy, and attempts at prenatal diagnosis have been unsuccessful. In the present study the usefulness of the determination of the glycine/serine ratio in the prenatal diagnosis of NKH was studied. The glycine/serine ratio of the amniotic fluid of the last trimester of pregnancies with a fetus affected with NKH was higher (8.5 +/- 3.3; mean +/- SD) than in pregnancies of NKH-heterozygote mothers with a healthy fetus (4.1 +/- 1.7) or than in pregnancies of healthy mothers (4.3 +/- 1.5). There is, however, overlapping of individual values, which limits the usefulness of this test for prenatal diagnosis of NKH.

Amino Acid Metabolism, Inborn Errors↗
PubMed1983

Propionic acidaemia. First case in the Finnish population.

Propionic acidaemia is a defect of propionyl-CoA-carboxylase activity characterized by urinary excretion of propionic acid, its metabolites and hyperglycinaemia. The clinical picture of this autosomally, recessively inherited disorder, which has been reported in the literature in 63 patients varies from overwhelming metabolic crisis in the neonate to an almost asymptomatic disease responding to protein restriction and biotin supplementation. The first Finnish patient with propionic acidaemia had a severe type of disease with neonatal onset simulating nonketotic hyperglycinaemia. In spite of protein restriction and biotin supplementation this infant developed progressive psychomotor retardation and died of intercurrent infection at the age of 8.5 months. The definite, correct diagnosis was not reached until a severe infection occurred, during which the pathognomonic organic aciduria manifested. This delay in the diagnosis illustrates the importance of performing the analysis of urinary excretion of organic acids during stress situations, such as infections, since the metabolic block may be undetectable under normal conditions.

Amino Acid Metabolism, Inborn Errors↗
PubMed1982

Cholic acid, chenodeoxycholic acid, alpha-1-fetoprotein and alpha-1-antitrypsin serum concentrations in breast-fed infants with prolonged jaundice.

Thirteen breast-fed one-month-old infants with prolonged jaundice not due to known causes were included in this study. All infants were investigated at one and twelve months of age. Serum concentrations of total (TB) and conjugated bilirubin (CB), aspartate (ASAT) and alanine aminotransferase (ALAT), alkaline phosphatase (AP), alpha-1-antitrypsin (alpha-1-AT), alpha-1-fetoprotein (AFP) and the two primary bile acids; cholic (CA) and chenodeoxycholic acid (CDCA) were determined at both ages. The Pi-phenotype of alpha-1-AT was determined at the age of twelve months. The serum concentrations of TB, CB, AP and AFP were elevated at the age of one month but were normal at the age of twelve months. No changes in the serum concentrations of ASAT or ALAT were observed between one and twelve months of age, and the values were within the reference ranges. The serum concentrations of alpha-1-AT were within the reference range at both ages. Two infants were heterozygous for MZ, and they had normal serum alpha-1-AT concentrations. The serum concentrations of CA and CDCA were elevated at the age of one month and were still significantly elevated at the age of twelve months indicating that the infants had slight cholestasis at the age of one month, and that the cholestasis had largely subsided by the end of the first year of life.

Alanine Transaminase↗
PubMed1981

Chronic lung damage caused by adenovirus type 7: a ten-year follow-up study.

Twenty-seven children aged 0.6 to 7.0 (mean 2.1) years were admitted to the hospital in 1967 and 1968 with type 7 adenoviral pneumonia. All ran a prolonged course. Type 7 adenovirus was isolated from 14 children, and in the other 13, the rise in the titer of complement-fixing antibodies to adenovirus was fourfold or greater. The outcome of the disease in these 27 children was reassessed in 1979, 9.6 to 12.1 (mean 10.7) years after the adenovirus type 7 pneumonia. Twenty-two were examined clinically and roentgenographically and all had lung function tests. Twelve had abnormal chest roentgenograms, and of these, six had bronchiectasis. Six of the ten children with normal chest x-ray films and ten of the 12 with abnormal chest roentgenograms had abnormal pulmonary function tests. Of the six patients with bronchiectasis, four showed no discernible cause of bronchiectasis other than the antecedent type 7 adenoviral infection. The other two patients had bronchial asthma, which can be a risk factor for bronchiectasis.

Acute Disease↗