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Biomedical subjects

L Chakova

Publications and source records attributed to L Chakova.

13 recordsLinked to original sources
PubMed1999

Myotonic dystrophy: a report of two cases from one family.

The authors report two cases of a brother and sister who suffered myotonic dystrophy and had a family history of the disease. Muscular dystrophy--more severe in the boy and mild in the girl--was the clinical manifestation. EMG findings corresponded to a primary muscle disorder, coinciding with myotonic activity in case 1. The genealogical study of four generations of this family revealed a descent pattern of inheritance. Anticipation--a characteristic phenomenon of the disease expressed in the occurrence of the disorder at earlier ages and in more severe forms in the successive generations--was also observed.

Child↗
PubMed1998

Comparative drug monitoring of carbamazepin suspension (TroyaPharm) and Tegretol syrup (Ciba Geigy) in epileptic children.

INTRODUCTION: Administration of antiepileptic therapy requires use of proper drugs. The introduction and implementation of home carbamazepine preparations has substantial economic and social effects for Bulgaria. METHODS: Fifty nine epileptic children were enrolled in the trial. The serum concentrations of Carbamazepin suspension (TroyaPharm, Bulgaria) and Tegretol syrup (Ciba Geigy, Switzerland) were evaluated by gas-chromatographic analysis. RESULTS: Steady-state serum antiepileptic drug concentrations (4-12 micrograms/ml) were maintained during the 3-month period of administration of both preparations. At the end of the first month of trial serum drug concentrations below the therapeutic range were observed in 15.2% of the patients on carbamazepin therapy and in 33.3% of the patients treated with Tegretol. At the end of the third month these indices changed to 21.2% and 13.3%, respectively. At the end of the first month serum level above the therapeutic range was found in 3.0% of the carbamazepin-treated patients and in none of those receiving Tegretol, while at the end of the third month in none of the blood samples did serum concentration of both drugs exceed the therapeutic range. Both preparations showed quick and substantial absorption in the first two hours after administration. It was determined by the indirect pharmacokinetic variable delta, representing the difference CSS2I- CssminI and expressed as a percentage of CssminI. This variable was 45.43% for Carbamazepin suspension and 41.00% for Tegretol syrup. CONCLUSIONS: No statistically significant differences in the examined pharmacokinetic parameters were found between both preparations.

Administration, Oral↗
PubMed1998

Congenital chloride diarrhoea (presentation of two cases).

Two cases of congenital chloride diarrhoea in newborn infants are presented. The diagnosis was made by a combination of clinical findings--hydramnios, low birth weight, large abdomen, severe dehydration, dyselectrolytemia with hypochloremia and hypokalemia, and metabolic alkalosis. A crucial finding for the confirmation of the diagnosis was the fourfold rise of faecal CI exceeding the sum of sodium and potassium concentrations.

Chlorides↗
PubMed1998

Effect of antiepileptic drugs on the thyroid gland in children with epilepsy (preliminary report).

Description of the side effects of antiepileptic drugs is commonly encountered in paediatric practice. In view of this we investigated the structural and functional changes undergone by the thyroid glands of epileptic children during the course of a long-term antiepileptic treatment. The study included 22 children with epilepsy aged 3.5 to 15 years. The thyroid status was assessed using clinical, ultrasound, and radioimmunological examinations. Clinical signs of initial hyperplasia of the thyroid gland were observed in 3 children. Volume abnormalities of the thyroid gland were found in 4 (18.2%) of the children. Abnormalities in the thyroid hormones and thyrotropin serum concentration were found in 5 children. The ultrasound examination revealed slight structural changes, decreased colloid uptake, and strip-like sprouts in 63.6% of the cases. These changes were significantly more common in children undergoing anticonvulsant polytherapy (12 of 22 children). The most general mechanisms of influence of the antiepileptic drugs on the thyroid status are discussed.

Adolescent↗
PubMed1998

Thalassemia intermedia in an infant.

We present a case of a two year old infant with jaundice in the neonatal period, anemia and splenohepatomegaly. Hemoglobin electrophoresis of the child and siblings revealed double heterozygosity of Lepore/beta thalassemia in the child and father, and heterozygous beta-thalassemia in the uncle. Structural variants giving rise to thalassemia phenotype are discussed.

Female↗
PubMed1998

West's syndrome--etiology, treatment and prognosis.

Forty two children with West's syndrome who had been treated in the Clinic of Paediatrics, Higher Medical Institute, Plovdiv in the last 10 years were entered into the present study. Analysis is made of the aetiology of the disease, the results of treatment and development of the children. All children were followed up from 6 months to 10 years. The West's syndrome was idiopathic in four children and symptomatic in 38 children (90.5%). It had perinatal aetiology in 76.5% of the patients, prenatal in 21%, and postnatal in 2.6%. Complete seizure control was achieved in 17 children (40.5%) treated only with antiepileptic drugs. Synacthen was included in the treatment of the remaining 22 children in three therapeutic doses--0.0125 mg/kg/day (n = 8), 0.025 mg/kg/day (n = 8), and > or = 0.05 mg/kg/day (n = 6). Treatment with different doses of Synacthen showed no statistically significant differences in the three groups. The side effects of the treatment occurred more frequently and were more severe in the groups with a high-dose Synacthen treatment. The follow-up established mental retardation and/or neurological deficit in 88.1% of the children. One infant died during the treatment with Synacthen and another two with severe mental retardation--one year after treatment. In about one third of the cases transition was observed to other epileptic syndromes. Synacthen is concluded to be efficacious in the treatment of West's syndrome. If antiepileptic drugs fail to produce any effect Synacthen should be included in the therapy in due time, preferably in small doses in order to avoid severe and unwanted side effects.

Cosyntropin↗
PubMed1996

On a rare form of epilepsy in infants--Ohtahara syndrome.

We report 15 children with clinical and electroencephalographic evidence of Ohtahara syndrome. The onset of seizures in most of them was within the first week of life. The seizures were predominantly polymorphic and refractory to treatment with ACTH and anticonvulsants. Suppression-burst patterns were recorded on the EEG in all cases. The outcome in all children was grave--four died in the neonatal period, and three-in the infancy period. Five of the survivors evolved into the West syndrome and three-into the Lennox-Gastaut syndrome. It is concluded that early detection of Ohtahara syndrome is of essential importance for the prognosis of newborns and little infants with seizures.

Epilepsy↗
PubMed1996

Studies on the frequency and clinical manifestations of epilepsy in infancy and early childhood.

The frequency, clinical manifestations and prognosis of epileptic seizures were analysed in 149 epileptic children aged up to three years. The frequency of epileptic seizures was found to have increased four-fold for the period of study. The generalised forms of epilepsy was found to have the greatest occurrence rate (65.8%). In infants the infantile spasms prevailed, and in children over the age of one year-the generalised tonic-clonic seizures. Partial seizures were observed in 24.1%, and mixed forms of epilepsies-in 10.1% of the cases. The prognosis of the children was comparatively good. Remission was achieved in 80.5% of the cases with primary generalised seizure, in 65% for those with partial seizures and in 40% of the children with mixed forms of seizures. The secondary generalised forms had the poorest prognosis--remission was achieved here only in 13.3% of the cases.

Child, Preschool↗
PubMed1996

Glanzmann's thrombasthenia in 11 cases of one family.

We report here the largest family in Bulgaria with Glanzmann's thrombasthenia which is inherited in an autosomal recessive manner. Eleven children in four successive generations were followed up. Clinically, the disease manifested in mucocutaneous haemorrhages. Five of the children died due to severe haemorrhagic episodes. The diagnosis was confirmed by haemostasic investigation; in some of the children the thrombocytes were examined by electron microscopy. Necessity of prenatal diagnosis is suggested.

Adolescent↗
PubMed1996

Solid tumours in newborns and infants.

Thirty two cases of solid tumours in newborns and infants were observed by the authors over a 15 year period. The most common type of tumours were soft tissue tumours (n = 8), neuroblastomas (n = 7), nephroblastomas (n = 5) and germ cell tumours (n = 5). Other types of embryonal tumours such as retinoblastoma and hepatoblastoma were observed in four children and non-Hodgkin's lymphomas in three children. Of 25 children followed up 18 survived. Five children died of their tumours and two children died of causes unrelated to their basic disease. Analysis of the fate of the patients and the effect of the therapy is made. It is concluded that malignant tumours prevail in infancy (90.6% of all cases). The percentage of patients treated successfully with insignificant risk for consequences from radiotherapy and chemotherapy is also high (72%).

Female↗