Biomedical subjects

K Hollódy

Publications and source records attributed to K Hollódy.

7 recordsLinked to original sources

PubMed2000

[Refsum disease].

For the first time in literature the authors interpret the pathography of Refsum's disease, in the case of their patient, as pseudo-hypervitaminosis A. The biochemical basis of the clinical picture is a defect in the activity of phytanic-acid-alpha-hydrolase belonging to the peroxisomal system. As a consequence, phytanic acid accumulates in the serum and in the parenchymal tissues. Retinol, an alcohol with high molecular weight, is a natural ligand of nuclear RXR (retinoid-X-receptor), which plays an important role in the regulation of peroxisoma synthesis. In Refsum's disease the phytanic acid accumulated because of the enzyme defect competes with the biotransformation derivates (all-trans-retinoic acid, 9-cis-retinoic acid) of the all-trans-retinol (vitamin A) for the nuclear RX receptor binding sites, and as a very potent receptoractivator it causes the intestinal symptoms of hypervitaminosis A. The authors review the procedure of fatty-acid chromatography necessary for the establishment of the diagnosis and discuss--in addition to dietary restrictions--recent therapeutic possibilities, like plasmapheresis, cascade filtration, lipapheresis and oral batylalcohol treatment.

Child, Preschool↗

PubMed1997

[Hallervorden-Spatz disease].

Based on the history of a 5-year-old boy, the clinical picture and the natural history of Hallervorden-Spatz disease are reviewed. In the past, the diagnosis of Hallervorden-Spatz disease has usually been made only post mortem. In the T2 weighted MRI images "eye of the tiger" sign is seen. This is due to iron-accumulation in the pallidum and it makes the earlier, in vivo diagnosis of the disease possible.

Child, Preschool↗

PubMed1997

[PEHO syndrome (progressive encephalopathy, edema, hypsarrhythmia. optic atrophy)].

The authors report the case of a now 2-year-old boy with PEHO syndrome. The syndrome is rare and it has not been published yet in Hungary. The syndrome was named after the first letters of its main characteristic signs: progressive encephalopathy, edema, hypsarrhythmia and optic atrophy. The aetiology of the syndrome is still unknown. Autosomal recessive inheritance is likely. The prognosis is poor. Intractable infantile spasms and the arrest of the psychomotoric and mental development can be expected.

Abnormalities, Multiple↗

PubMed1996

[A case of herpes simplex encephalitis requiring surgical management].

The authors report about surgical treatment of herpes simplex encephalitis, although conservative management of this disease is the method of choice in the first place. They draw a lesson from this case that certain cases of large space occupying lesions of infectious origin leading to brain stem compression may require surgical management, even if they customary treatment is conservative.

Adolescent↗

PubMed1992

Ewing's sarcoma in the occipital bone. Case report.

The head is a very rare primary site for Ewing's sarcoma which occurs most often in the long bones of the extremities and in the pelvis. This report describes an unusual case of Ewing's sarcoma arising from the occipital bone in a seven year old girl. The tumour compressed the venous sinuses, thus lowering the intracranial pressure resulted in temporary recovery which made the diagnosis difficult.

Bone Neoplasms↗

PubMed1990

[Glucosylated proteins and perinatal growth].

The concentration of HbA1c and glycosylated serum proteins were measured colorimetrically in 30 and 29 newborn infants of various gestational age, at the postnatal age of 0-24 hrs and 19-23 days, respectively. No relationship was found either between the maturity and the prenatal and early postnatal growth of the studied infants or the concentration of glycosylated haemoglobin and serum proteins.

Birth Weight↗

PubMed1989

[Concentration of C-reactive protein in neonatal pathology].

C-reactive protein concentration was measured in 56 preterm and 61 full term newborn infants with various pathology, at the postnatal age of 0-24 hrs and 1, 2, 3, 4 weeks. One third of all study babies had an increased (greater than 10 mg/l) CRP level measured within 24 hrs of birth. On the first day, CRP concentration in neonates with a pronounced perinatal asphyxia was as high as in those who suffered from perinatal infection. Further postnatal changes in CRP level need individual evaluation in every case, considering the diagnosis, clinical course and treatment. In connection with the results the clinical usefulness of CRP determinations in neonatal medicine is shortly discussed.

Asphyxia Neonatorum↗