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Biomedical subjects

D Mardesić

Publications and source records attributed to D Mardesić.

At least 19 recordsLinked to original sources
PubMed1996

Complex disorder of neuronal migration in an infant with possible congenital cytomegalovirus infection.

A ten-months-old girl was evaluated for developmental delay, increased muscle tone and seizures. CT and MRI revealed un uncommon combination of two different manifestations of neuronal migration disturbance: agyria/pachygyria and subcortical laminar heterotopia ("double cortex" syndrome). The occurrence of these two manifestations of neuronal migration dosorders in the same individual is quite unusual. The possible pathogenesis of such a complex disorder could probably be established only by histologic examination of the brain. A positive serologic reaction for cytomegalovirus in the infant at the age of 11 months and in the mother suggested but did not prove the cytomegalovirus infection in early gestation as the cause of the disorder.

Brain↗
PubMed1992

Corticosterone methyloxydase deficiency type II in a Croatian girl.

This is a brief case report on a four-month-old girl who was admitted for failure to thrive and moderate dehydration. On admission she was mildly dehydrated and undernourished but with otherwise normal physical findings. Laboratory investigation disclosed mild but constant hyponatremia and hyperkalemia, very high plasma renin activity (greater than 900 ng/mL per hour) and low plasma aldosterone concentration (2.5 ng/dL). The plasma 18-hydroxycorticosterone (18-OH-B) was very high (1,682 ng/dL), producing thus an abnormally elevated 18-OH-B to aldosterone ratio of 542 (normally 6.3 +/- 3.6). The diagnosis of corticosterone methyloxydase deficiency type II was made, and the administration of fluorohydrocortisone resulted in rapid weight gain with normalization of blood electrolytes and gradual decrease in plasma renin activity. A very efficient catch-up growth resulted in normal body weight and length at the age of 2 years. This is the first well documented case of the disease in the population of Yugoslavia.

Cytochrome P-450 CYP11B2↗
PubMed1990

Immunological aspects of progeria (Hutchinson-Gilford syndrome) in a 15-month-old child.

A thorough analysis of the immunological status was conducted in a 15-month-old child with progeria (Hutchinson-Gilford syndrome). Total leukocyte and neutrophil counts were slightly increased, and monocytes were decreased. Percentage and numbers of CD4+ cells in the blood were mildly decreased as well as the CD4/CD8 cell ratio. CD20 (B-cell marker) bearing cells and cells bearing Ia-antigens were increased, as well as CD16 and CD56 marker-bearing cells (natural-killer cells, NK). Lymphocyte proliferation upon stimulation with phytohaemagglutinin and purified protein derivative were decreased, and with pokeweed mitogen increased. NK cell activity appeared increased, particularly at lower effector: target cell ratios.

Agammaglobulinemia↗
PubMed1990

Screening of newborns for congenital hypothyroidism in Croatia--organization and first results.

In 1985 a newborn screening programme for the detection of congenital hypothyreosis was introduced in Croatia in addition to the already existing one for phenylketonuria. The paper delineates the organization of the screening programme, the method used, and the first results. Clinical manifestations, somatic and mental development, as well as laboratory findings of the first eleven children with congenial hypothyroidism detected by the screening programme and followed-up regularly are presented in more detail.

Congenital Hypothyroidism↗
PubMed1985

'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population.

Five individuals with the asymptomatic, 'non-classical', 'cryptic' form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency from 5 unrelated families were discovered during hormonal studies and HLA-typing performed in a series of 24 families with CAH due to 21-OH deficiency. Four of the 5 individuals with the 'cryptic' form of CAH belong to families where the index case was a patient with the classical form of CAH due to 21-OH deficiency. The fifth one originated from a family where the index case was a girl with the 'non-classical', 'late-onset' form of the disease. All the 5 individuals had no clinical symptoms in spite of clearcut biochemical signs of 21-OH deficiency: increased 17-OH-progesterone (17-OHP), dehydroepiandrosterone and androstenedione levels, particularly after ACTH-stimulation. The 17-OHP response upon ACTH stimulation of heterozygotes for this 'non-classical' form of 21-OH deficiency did not differ from the response of heterozygous individuals for the classical form of the disease. The results of this study confirm the hypothesis that individuals with the 'cryptic' form of CAH due to 21-OH deficiency are genetic compounds bearing one allele for the severe, classical form, and on the homologous locus, another one for the mild 'non-classical' form of CAH due to 21-OH deficiency. Their genotype was 21-OH severe/21-OH mild.(ABSTRACT TRUNCATED AT 250 WORDS)

17-alpha-Hydroxyprogesterone↗
PubMed1984

Acute polyneuropathy with severe generalized rigidity in a child aged 16 months. Preliminary report.

A case of acute severe generalized muscle rigidity in a 16-month-old child is described. The arm flexors and leg extensors were the most severely involved, with all stretch reflexes absent. Motor conduction velocities on the arms and legs were very slow and nerve potentials were not elicited. The rigidity and electromyographically recorded spontaneous activity almost disappeared on carbamazepine treatment, with nerve conduction velocities remaining unchanged.

Acute Disease↗
PubMed1984

Coincidence of pseudohypoaldosteronism with gluten-enteropathy.

This is a 21-month-old boy with pseudohypoaldosteronism (PHA) in coincidence with celiac disease. The diagnosis of PHA was made on the basis of hyponatremia, hyperkalemia and large urinary salt losses, as well as high renin activity and aldosterone levels and increased urinary plasma aldosterone. Whereas mineralocorticoid therapy was ineffective, salt therapy has proven successful. The patient's HLA type was found to be characteristic of gluten-enteropathy (A1, B8, DR3). The combination of PHA and celiac disease has not yet been described and is probably a coincidence. However, it is suggested that other PHA patients be typed in order to investigate the segregation between HLA type, PHA and celiac disease.

Aldosterone↗
PubMed1982

Plasma renin activity and plasma aldosterone concentration in infants with various potassium intakes.

Plasma renin activity (PRA) and aldosterone concentration (PA) were measured in 20 healthy infants from 1 to 12 months of age during normal (3.03 mmol/kg/d) and high (5.20 mmol/kg/d) potassium intake. PRA did not change between regimes. PA rose significantly from 618 pg/ml during normal to 1136 pg/ml during high potassium intake. It is concluded that the potassium intake should be taken into consideration when studying plasma aldosterone in infancy.

Aldosterone↗
PubMed1979

Plasma renin activity and plasma aldosterone concentration in infants with various sodium intakes.

Plasma renin activity (PRA) and plasma aldosterone concentration (PA) were measured in 20 healthy infants 2-12 months of age, after taking a commercial modified cow's milk formula with 8.2 mmol/l sodium for at least five days, and after at least five days on a home-made, undiluted acidified cow's milk formula with 12.6 mmol/l sodium. The mean sodium intakes were 1.20 and 1.87 mmol/kg of body weight per day respectively. The arithmetic means for the corresponding PRA were 6.16 and 1.08 ng/ml . h (difference not significant) and the corresponding arithmetic means for PA were 603 and 355 pg/ml, the difference being highly significant (P less than 0.01). It is concluded that one has to consider the sodium intake in the milk formula when studying plasma aldosterone in infancy.

Aldosterone↗
PubMed1979

Hereditary tyrosinemia.

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Amino Acid Metabolism, Inborn Errors↗