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Biomedical subjects

S Similä

Publications and source records attributed to S Similä.

At least 37 records · Page 2Linked to original sources
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↗
PubMed1982

Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.

Two brothers with typical clinical findings of the COFS-syndrome are described. In the cranial CT performed on the younger patient at the age of 2 years and 6 months, foci of intracranial calcification located symmetrically in the region of the lenticular nucleus and hemispheric white matter were noted. This finding is clearly distinguishable from the other known patterns of intracranial calcification and could be pathognomonic of the COFS-syndrome.

Abnormalities, Multiple↗
PubMed1982

Alpha-1-antitrypsin: the PiM subtypes and serum concentrations in Finnish newborns.

Pi phenotypes were classified by isoelectric focusing of the sera of 200 full-term Finnish newborns at the age of 3--5 days. The phenotype PiM was found in 95% of the neonates. The frequencies of the alleles PiM1, PiM2 and PiM3 were 0.682, 0.189 and 0.129, respectively. The serum concentration (mean +/- SD) of alpha-1-antitrypsin (alpha 1-AT) in the whole study group was 2.72 +/- 0.61 g/l. The concentration of alpha 1-AT in the newborns with the phenotype PiM3 (1.79 +/- 0.65 g/l) was significantly lower (p less than 0.025) than in other PiM subtypes. No difference in serum concentrations of alpha 1-AT between boys (2.78 +/- 0.66 g/l) and girls (2.66 +/- 0.55 g/l) was observed.

Alleles↗
PubMed1982

The incidence of coeliac disease and pyloric stenosis in children in Northern Finland.

The incidences of symptomatic coeliac disease (CD) and pyloric stenosis (PS) in children born 1960-1979 were studied retrospectively in Northern Finland. The total incidence of CD was 42.3, and of PS 122.7 per 100,000 live births. The figure for CD was lower than in studies from other industrial countries during the same period. The incidence of CD was highest in the early 1970s, and has decreased significantly, at least in children under two years of age, during the late 1970s. In the city of Oulu the incidence of CD was significantly higher than that in the surrounding countryside. Active search, with small intestinal biopsies, should reveal over 90% of cases with CD before the age of two years. Of 78 children diagnosed as having CD during the observation period, 75% were breast-fed for less than three months, 18% had signs of allergy at the time of diagnosis and seven % had IgA deficiency. In four patients CD was associated with diabetes. The incidence of PS varied from 107 per 100,000 live births in the early 1960S to 153 per 100,000 in the late 1960s. No significant seasonal variance was observed in the analysis of 226 children with PS in the study.

Adolescent↗
PubMed1982

Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation.

Argininosuccinic aciduria (ASA-uria) is a rare inborn error of the urea cycle, in which there is massive excretion of argininosuccinic acid (ASA) in the urine together with elevated concentrations of ASA in the plasma and the CSF. The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation. The present patient, the first Finnish one to be reported, was a 49-year-old woman. She was hospitalized at the age of 26 with a diagnosis schizophrenia and mental retardation. Her clinical symptoms consisted of ataxia, disturbance of coordination, clumsiness, intention treMor and a positive Romberg's sign. The laboratory findings were consistent with the mild, late-onset type of ASA-uria.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia.

Heterozygotes for nonketotic hyperglycinemia (NKH), a disorder of glycine degradation, have a slightly abnormal metabolism of glycine. As the severe neurological symptoms which are characteristic for the homozygotes are at least partially due to a disturbance of glycine function as a neurotransmitter, minor neuronal dysfunctions might be expected also in heterozygotes. Although their general health was within normal limits in these 13 heterozygotes, slight neurological symptoms and signs were observed. Neurophysiological investigations revealed disturbance of the vestibular function in six subjects, preponderance of beta-wave activity in five, subnormal amplitude of a-wave, and shortening of implicit time of the first oscillatory potential (OPI) in the retinography. Functioning of peripheral nerves appeared normal in measurements of motor conduction velocity, distal latency and amplitude of muscle response. These minor dysfunctions of the central nervous system may well be due to a slightly abnormal degradation of glycine in heterozygotes for nonketotic hyperglycinemia.

Adult↗
PubMed1981

Serum cholic acid and chenodeoxycholic acid concentrations in neonatal hyperbilirubinemia.

Primary bile acid concentrations were measured in serum of 332 newborns with neonatal hyperbilirubinemia (serum total bilirubin level greater than 200 mumol/l) and compared with those of 95 nonhyperbilirubinemic neonates (serum total bilirubin level less than 200 mumol/l). The serum concentrations (mumol/l; mean +/- SEM) for cholic acid (8.78 +/- 0.44) and chenodeoxycholic acid (10.5 +/- 0.68) were significantly higher (p less than 0.001) in the hyperbilirubinemic group than in the controls (7.16 +/- 0.48 and 6.67 +/- 0.48, respectively). 80 (24%) of the hyperbilirubinemic newborns had true cholestasis (serum levels of cholic and/or chenodeoxycholic acid higher than mean +/- 2 SD in the reference group). The ratio of cholic to chenodeoxycholic acid was significantly higher (p less than 0.05) in the cholestatic group than in the hyperbilirubinemic newborns without cholestasis. There was no significant differences in the serum concentrations of alkaline phosphatase or lactate dehydrogenase between the cholestatic and noncholestatic groups. In the hyperbilirubinemic newborns, the primary bile acids were indiscriminately raised. Only 8 infants from the 332 newborns had jaundice at the age of 1 month. Of these 8 infants only 2 had neonatal cholestatic hyperbilirubinemia. It thus appears that measurement of serum primary bile acid concentrations has only limited diagnostic value in assessing the severity or prognosis of neonatal hyperbilirubinemia.

Chenodeoxycholic Acid↗
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↗
PubMed1981

Thrombocytopenia in allergic protein-losing gastroenteropathy. Report of an infant with Down's syndrome.

An eleven week old boy with Down's syndrome displayed the typical picture of protein-losing enteropathy, which was complicated by thrombocytopenia. The production of thrombocytes in the bone marrow specimen had increased. After withdrawal of cow's milk form the diet, the concentration of serum albumin and the number of blood thrombocytes normalised within two weeks. We take the view that hypercoagulability, due to the excessive loss of inhibitors of the coagulation system into the intestinal lumen, is the possible mechanism in the excessive consumption of the thrombocytes.

Animals↗