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Biomedical subjects

I Ozalp

Publications and source records attributed to I Ozalp.

At least 37 records · Page 2Linked to original sources
PubMed1994

Infantile spasms as the initial symptom of biotinidase deficiency.

Two patients with biotinidase deficiency had diagnoses of infantile spasms made at 1 month of age. Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms.

Amidohydrolases↗
PubMed1994

Allele frequencies of Mp6D-9 and GATT markers in 32 Turkish cystic fibrosis families.

The allele frequency of GATT and Mp6D-9 markers was investigated in 32 cystic fibrosis (CF) families. The GATT6 allele was found to be significantly associated with the delta F508 mutation. The Mp6D-9 allele 2/GATT6 haplotype was the major haplotype of the mutant alleles. Further analysis of CF alleles for population-specific mutations is underway so that a more direct approach can be taken, especially for families seeking prenatal diagnosis.

Alleles↗
PubMed1993

Mutation analysis in Turkish phenylketonuria patients.

Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.8%), 158arg-gly (2.3%), 252arg-trp (1.1%), 280glu-lys (-), and 272gly-stop (-) were the other mutations that were screened.

Alleles↗
PubMed1992

Biotinidase deficiency: a rare cause of laryngeal stridor.

A case of a child with a biotinidase deficiency who had a laryngeal stridor as a leading symptom is presented. This rare disease is distressing for diagnosis but easily treatable, if recognized. This condition, unless suspect clinically, could easily be overlooked and unnecessary tracheotomy could be done.

Abnormalities, Multiple↗
PubMed1991

Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method.

Blood obtained by finger prick from 209 presumed normal homozygotes and 42 heterozygotes for classical PKU was analyzed for plasma phenylalanine (Phe) and tyrosine (Tyr) by a fluorimetric method. Subjects were tested near midday and 3 hours after a protein-rich breakfast. The plot of Phe/Tyr (micromolar ratio) against Phe2/Tyr, permitted the detection of 11 heterozygotes among 209 controls. The accuracy of this method was checked by computation of a stepwise multivariate discriminant analysis, using Phe and Tyr (mumol/L), Phe/Tyr micromolar ratio and Phe2/Tyr as variables. Ten of the 11 subjects were recovered with a percentage of correct classification of over 90%, while one case had a percentage of 89.45%. The PKU gene frequency was found to be 1/19. This emphasizes the importance of a screening programme for PKU gene carrier status in Turkey.

Adolescent↗
PubMed1990

Scleroderma-like skin lesions in two patients with phenylketonuria.

Two patients with phenylketonuria and scleroderma-like skin lesions are presented. Since scleroderma is a rare collagen disease of childhood, the occurrence of these two disorders in the same patient does not seem to be coincidental but raises the possibility of a causal relationship. Improvement in the skin lesions of the patients after the commencement of a low-phenylalanine diet supports this hypothesis.

Female↗
PubMed1990

Investigation of serum vitamin A levels of children who had a history of recurrent diarrhoea and acute respiratory infections in Ankara.

Vitamin A deficiency is considered a widespread public health problem among preschool children in the developing countries. A limited number of studies reveal an association between xerophthalmia and significant systemic diseases including protein-energy malnutrition, diarrhoea, and acute respiratory infections. The present study was carried out to assess the vitamin A status of preschool children who have a history of recurrent acute respiratory infections and diarrhoea. We have already shown that serum vitamin A levels of all the study groups were lower than the control group (P less than 0.001) and the detailed statistical analyses made clear that malnutrition is the major contributing factor (P less than 0.001) although infections also have a negative effect on serum vitamin A levels (P less than 0.01). We have also shown that subclinical vitamin A deficiency is a problem of public health importance in this region, since about 64 per cent of the children examined were found to have low levels of serum vitamin A (less than 20 micrograms/dl).

Acute Disease↗