Frequency and association of 1691 (G>A) FVL, 20210 (G>A) PT and 677 (C>T) MTHFR with deep vein thrombosis in the population of Bosnia and Herzegovina.

The 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population. This study included 111 thromboembolic patients and 207 healthy subjects with absence of known risk factors for venous thromboembolism. Genotyping of the 1691, 20210 and 677 mutations was done by polymerase chain reaction (PCR), followed by restriction digestion with MnlI, HindIII and HinfI enzymes. Out of the 111 patients, 18.0% were heterozygous and 2.70% were homozygous for the 1691 mutation. Among 207 healthy controls, 3.86%, were heterozygous for the 1691 mutation. This study confirmed the association of the 1691 mutation with deep vein thrombosis in the Bosnian population odds ratio (OR) [95% confidence interval (CI)] = 6.0 (2.62-14.14); p = 0.0001). The 20210 mutation was detected in 2.70% of patients and it was totally absent in the control group. Allele and genotype frequency of 677 did not differ significantly between the cases and controls (χ2 = 1.03; p = 0.309).

Therapeutic feeding in Sarajevo during the war.

OBJECTIVE: To monitor the growth of underweight children enrolled in a therapeutic feeding programme in Sarajevo during the war. DESIGN: About 17% of the total child population in the age group one to 14 years were assessed for eligibility to join a therapeutic feeding programme. All those who were found to be underweight (weight for age < 10th percentile), or suffering from certain diseases or disabilities were included in the programme. SETTING: Monitoring took place in health centres and clinics in besieged Sarajevo. SUBJECTS: A total of 49,780 children aged one to 14 years were estimated to be living in Sarajevo between May 1993 and March 1994 and 8361 (16.8%) were assessed during this period. Of these, 1283 (2.6% of the total child population) were found to be underweight and enrolled in the programme. INTERVENTIONS: The public were informed about the therapeutic feeding programme through the media. All children who came forward for initial assessment were weighed, had their heights measured and were medically examined by a team of medical personnel. Those found to be underweight were included in the programme which provided high quality food items, donated as food parcels. Children were re-weighed at three monthly intervals. When a child's weight increased to 0.5 kg above 10th percentile, the child left the programme. RESULTS: Of 1283 children enrolled in the programme, 650 (50.7%) were suffering from chronic diseases while the remaining 633 (49.3%) were underweight only. Undernutrition was highest in the four to six year old age group (19.3% with low weight for age). Over half (58.3%) of the children who were underweight but not sick gained a satisfactory weight during the study period and left the programme. CONCLUSIONS: The results suggest that the therapeutic feeding programme was successful in improving growth in a self-selected sample of underweight children.

[Tetralogy of Fallot: postoperative monitoring of patients]. / Tetralogija Fallot: postoperativno pracenje pacijenata.

In 25 patients, 13 boys and 12 girls, median age 5.5 years, in 1990-2000, surgical reparation of their heart defects were performed. Median age of diagnostic Tetralogy of Fallot was 3.2 months, range 1 day-2 years. Anoxic spells were present in three patients. Ten patients (median age 3 years, range 3 months-10 years) initially palliated with a modified Blalock-Taussig shunt, underwent a reparation at a median of 4.5 years after palliation. Median follow up was 4.2 years, range 3 months-10 years. The 30-day mortality rate was 16%. Mean right ventricular outflow tract gradient on echocardiography was 20.20 +/- 4.78, and mean oxygen saturation was 96% +/- 1.3. Two patients had non significant residual ventricular septal defect with left to right shunt, 7 right ventricular enlargement and almost all mild pulmonary regurgitation. Also two patients had Blalock-Taussig shunt's thrombosis. Before surgical reparation, one boy showed pulmonary valve's endocarditis. Complete atrioventricular block has been developed on one girl. No patient required reintervention during follow up and there was no late mortality. Almost all of our patients were asymptomatic, had normal activity, regularly exercised and some of them participated in school sport programs. Complete correction of Tetralogy of Fallot showed good results with normal life expectancy for the patients.

[Review of patients with congenital heart anomalies treated at the University Clinical Center in Sarajevo 1997-2000]. / Prikaz pacijenata sa kongenitalnim anomalijama srca tretiranih u Klinickom centru Univerziteta u Sarajevu u toku 1997.-2000. godine.

During April 1997 to October 2000, 65 children (61.5% female and 38.5% male) have been operated at KCU Sarajevo at the Hospital for Cardiac surgery. Diagnostic procedures, preoperative and postoperative treatment have been carried out at Pediatric hospital, Clinical center University of Sarajevo. The average age of establishing the diagnosis was 20 months and 4.5 years was the average age of surgical treatment. The most frequent defects were: Atrial septal defect 27.69%, Tetralogy of Fallot 16.92%, Patent ductus arteriosus 16.92%, Coarctatation of the aorta 7.69%, combination of more simple defects 7.69%, Atrioventricular septal defects 6.15%, Ventricular septal defect 4.61%, Pulmonary stenosis 4.61%, Anomalous pulmonary venous connection 4.61% and the other complex defects 3.07%. Among all cases 10.76% were associated with some of the syndromes. In 86.13% of cases total correction have been performed and palliative in 13.84% of cases. Death rate was 10.76%, and postoperative complications 21.53%. Catheterizations was performed on 14 patients (21.53%), and three of them had therapeutic interventional cardiac catheterization (coil, umbrella, balloon dilatation). The average timing of: preoperative procedures was 3.5 days, postoperative following 7.5 days and intensive care 2.2 days.

[Single ventricle--case report]. / "Single ventricle"--prikaz jednog slucaja.

A case of congenital heart disease (single ventricle) has been reported in nine and half years old child. This congenital heart disease is uncommon, but its diagnosis and treatment are complex. Complete noninvasive and invasive diagnostic procedure has been performed with this child. This congenital heart disease is proclaimed as inoperable because pulmonary hypertension has been developed.

[Hypertrophic idiopathic subaortic stenosis]. / Hipertroficna idiopatska subaortalna stenoza.

In 1990 at the Pediatric Clinic in Sarajevo, based upon physical examination EKG, RTG and complete ECHO examinations, HISS was diagnosed with a five years-old boy. The diagnosis: Stenosis aorte valvularis gr. majoris, Aorta bivelaris, and Stenosis r. sinistri ar. pulmonalis have been confirmed by the invasive method. The surgical intervention was proposed. Due to war circumstances surgery operation was done in Cambridge, in 1993. The child is well now.

[Ewing's soft-tissue sarcoma--case report]. / Ewingov mekotkivni sarkom--prikaz jednog slucaja.

This paper reports a very rare case of 5-years old girl with a tumor of the right kidney and metastatic changes in the inferior vena cava and right heart. Following the nefrectomy Wilms' tumour diagnosis was established. There was no an adequate answer on chemotherapy according to SIOP i.v. protocol. Three months later metastatic changes spreaded to lungs, pelvic bones and distant lymphonodes of the neck and axillas. The patient in a very severe condition was evacuated to England (Alder Hay Children's Hospital, Liverpool). After numerous tests the diagnosis of Wilms's tumor was excluded and diagnosis of Ewing's sarcoma (soft tissue) was established.

[Frequency of congenital anomalies in neonates in Bosanska Krajina (1985-1988)]. / Ucestalost kongenitalnih anomalija u novorodencadi Bosanske Krajine (1985-1988).

The following can be stated on the basis of an incidence analysis of the results of birth defects in the sample of newborn infants of Bosanska krajina (1981-1985) and their distribution in the observed sample and infants' sex: In the analysed sample of newborn infants of Bosanska krajina (N = 40,450) there were 1454 newborn infants with birth defects--1375 with one and 79 with multiple defects (every 28th newborn), out of which there were 1344 full-term, 98 premature and 12 stillborn infants. The relative incidence of birth defects in the analysed sample of newborns of Bosanska krajina (3.57%) and its subsamples (full-term 3.53%; premature 14.55%; and stillborn 2.55%) coincides with the variation range registered in the samples of Yugoslav and world populations. Significant differences in the incidence of birth defects with respect to the "status" of the newborn occur in comparisons of subsamples of full-term and premature infants (0.01 greater than p greater than 0.001) and the premature and total observed sample of newborns of Bosanska krajina (p less than 0.001). The incidence analysis by newborns' sex shows significant differences in the incidence of defects between female and male newborns (p less than 0.001).

[Postoperative left ventricular function in patients with transposition of the great blood vessels]. / Postoperativna funkcija lijeve komore kod pacijenata sa transpozicijom velikih krvnih sudova.

UNLABELLED: During August 1996 to August 1998 at the Paediatric Clinic in Sarajevo, 8 patients (pts) have been diagnosed to have a Transposition of the Great Arteries (TGA), age 10 hrs to 31 days. First Group (n = 4) had a simple TGA and in II Group in 3 pts TGA was associated with double inlet left ventricle (DILV) and subpulmonary artery stenosis and in 1 with double outlet right ventricle (DORV) and subpulmonary artery stenosis. Anatomical correction of TGA-arterial switch has been performed in Group I, mean age 15.5 days (7-18). In Group II palliative correction has been completed in: atrioseptectomy (1/4), pulmonary artery banding (3/4), right Blalock-Tausing modified shunt and also partial correction: Glenn anastomosis, mean age 4.7 months. Pts have been followed from 3 to 19 months postoperatively. All pts are well, except 1 pt who died following the arterial switch (mortality rate 12.5%). The aim of this study is to evaluate left ventricle (LV) function pre and postoperatively with electrocardiographic monitoring. Electrocardiographically there was no significant rhythm disorders. Using M mode echocardiography techniques, LV function was measured including internal dimensions of the LV as well as a wall thickness and than compared with the others comparable to the age and body weight. LV function in pts post anatomical correction has returned to normal values faster, with statistically significant difference of p = 0.02, than in pts post palliative-partial correction. CONCLUSION: Echocardiographically LV function in pts with TGA post arterial switch returned faster to normal values than in pts following the palliative-partial correction.

[Multicenter pediatric therapeutic interventional heart catheterization 1996-1998]. / Multicentricna pedijatrijska terapeutska intervencijska srcana kateterizacija u toku 1996.-1998. godine.

The aim of the study is to evaluate choice, efficacy and safety of transcatheter therapy in patients (pts) with congenital heart disease which has been performed in Europe on pts from the Paediatric Clinic of Sarajevo. From January 1996 to August 1998 out of 20 transcatheter therapeutic interventions, 5 have been done in pts whose congenital heart lesions: ductus arteriosus persistence (DAP), atrial septal defect (ASD), pulmonary artery valve stenosis (PS), aortic valve stenosis (AS), were diagnosed in first year of life. Pts were followed 11 months post interventions (the longest period of follow-up 19 months). All pts are well and asymptomatic. DAP closure has been done using "coil" devices in 2 pts (in Italy and Monaco) age 5 and 7.5 years. Duct diameter was 3.5 mm and 4 mm with percent of success within 24 hrs of 100%. With PW Doppler no residual ductual shunt has been proven. Transcatheter closure of ASD type secundum diameter 9 mm, using the "amplatz" device has been performed in Germany. No residual shunt has been proven by echocardiography. Balloon pulmonary valvuloplasty successfully was done in 1 pt in Austria age 3/12 with normal flow of right ventricle outflow tract post intervention. Balloon aortic valvuloplasty was performed in Sweden in neonate with decrease of pressure gradient of AS for 70%. Using Pencil Doppler, 8/12 post intervention in that pt restenosis occurred. The therapeutic catheterizational technique has been successful in alternating surgical approach to resolve congenital heart disease. With further development of catheter systems, techniques and longer periods of follow-up, possibilities of simpler, faster, safer and more efficient solvation of cardiac lesions will brightening up the future of paediatric interventional catheterisation.

[Echocardiographic changes in patients with chronic renal insufficiency on hemodialysis]. / Ehokardiografske promjene kod pacijenata sa hronicnom bubreznom insuficijencijom na hemodijalizi.

Cardiovascular diseases cause death in 40% patients on the chronic haemodialysis program. Our aim was to assess the heart changes in these patients by echocardiography. We have tested 40 patients, but 34 of them accomplished criteria for this study. There were 19 (55.88%) females and 15 (44.12%) males. The average age was 44 years and average duration of haemodialysis treatment was 4.72 years. The research was made with ultrasound device TOSHIBA SSH 65 A SONOLAYER and transducers 3.5 and 2.75 MHz. Twenty patients (58.82%) have had pathological echocardiogram. Ten patients (29.42%) have had conditionally normal echocardiogram while four patients (11.76%) have had completely normal echocardiogram. In patients with pathological echocardiogram, some of the left ventricle hypertrophy forms dominated. Echocardiography is a useful method in morphologic and functional cardiac assessment at the last stage renal disease patients on the chronic haemodialysis program. Using the aforementioned method we are able to select the patients who need intensive cardiac care.