Radivoj Brdar

Degree of genetic homozygosity and distribution of AB0 blood types among patients with spina bifida occulta and spina bifida aperta

Introduction Assuming that spina bifida (SB) is a genetically controlled disease, the aim of our study was to evaluate the degree of genetic homozygosity and the distribution of AB0 blood types among patients with SB occulta and SB aperta by the homozygously recessive characteristics (HRC) test. Material and methods Our study included an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morpho-physiological traits in a sample of 100 patients with SB (SB occulta N = 50 and SB aperta N = 50) and a control group of individuals (N = 100). Results We found a statistically significant difference between the mean values for genetic homozygosity (SB 4.5 ±0.3; control 3.0 ±0.2, p < 0.001) and also differences in the presence of certain individual combinations of such traits. In 12 (80.0%) of the 15 observed characteristics, recessive homozygosity was expressed to a greater degree among the group of SB patients, while for 9 (60.0%) of the traits this level of difference was statistically significant (Σχ 2 = 266.3, p < 0.001). There was no difference in average homozygosity of such genetic markers between groups of SB occulta and SB aperta patients, but the type of individual variation in the two studied groups significantly differed. In the group of patients with SB the frequency of 0 blood group was significantly increased while B blood group was significantly decreased. Conclusions Our results clearly show that there is a populational genetic difference in the degree of genetic homozygosity and variability between the group of patients with SB and individuals without clinical manifestations, indicating a possible genetic component in the aetiopathogenesis of spina bifida.

Distribution of affected muscles and degree of neurogenic lesion in patients with spina bifida

Introduction Patients with spina bifida in the lumbosacral region usually have various degrees of motor and sensory dysfunctions of the lower extremities and anal sphincter. The aim of our study was to evaluate the distribution and differences in frequencies of affected muscles, number of affected muscles and degree of neurogenic lesion between patients with spina bifida occulta (SBO) and spina bifida aperta (SBA). Material and methods In 100 patients with SB, 6 muscles in the lower limbs were separately analysed. Due to the number of affected muscles, we evaluated 5 groups of patients: with 1 affected muscle, 2 affected muscles, 3 affected muscles, 4 affected muscles and 5 affected muscles. Three degrees of neurogenic lesions were assessed: mild, moderate and severe. Results The tibialis anterior muscle was most frequently affected in SB patients. The outer anal sphincter was frequently affected in the group of SBA patients. Single muscle affection is frequent in the group of patients with SBO, while in the group of patients with SBA, 4 muscles were significantly frequently affected. The great majority of patients (45.46%) with affected outer anal sphincter (OAS) in the group of SBO were without affection of other muscles, while for the SBA group it was for every third patient. Mild neurogenic lesion was significantly frequent in SBO patients, while severe form was significantly frequent in SBA patients. Conclusions Patients with SBO usually present with mild to moderate clinical presentation, while multiple root involvement and severe degree of neurogenic lesion is associated more frequently with SBA.

Population genetic analyses of susceptibility to increased body weight.

Introduction Obesity is a complex condition with multifactorial origin. Assuming that such a state is genetically controlled, the aim of our study was to evaluate the degree of genetic homozygosity among overweight and obese individuals by the homozygously recessive characteristics (HRC) test. Material and methods We analysed the presence, distribution and individual combination of 15 selected genetically controlled recessive phenotype traits in a sample of 140 individuals with increased body mass index (overweight individuals n = 100 and obese individuals n = 40) and a control group of normal weight individuals (n = 300). Results Obese individuals have significantly higher mean values for genetic homozygosity than those with normal weight (normal weight: 3.61 ±1.48; obese: 4.13 ±1.47, p < 0.05) and difference in the presence of certain individual combinations of evaluated phenotype traits (Σχ2 = 76.9; p < 0.01). There was no difference in average homozygosity of such genetic markers between groups of normal weight and overweight individuals (normal weight: 3.61 ±1.48; overweight: 3.93 ±1.51, p > 0.05) and between groups of overweight and obese individuals (overweight: 3.93 ±1.51; obese: 4.13 ±1.47, p > 0.05). There is no difference in the presence of certain individual combinations of evaluated phenotype traits between overweight and obese individuals (Σχ2 = 20.6; p > 0.05). Conclusions There is a populational genetic difference in the degree of genetic homozygosity and variability between the group of normal weight and group of obese individuals, indicating a possible genetic component. Overweight and obese individuals have a genetic predisposition, but different expression of genetic loads could be one of the possible explanations for different susceptibility to increase of fat mass and body mass index.

Femoral neck fractures in children and the role of early hip decompression in final outcome

BACKGROUND Femoral neck fractures in children are very rare and account for about 1% of all paediatric fractures. The aim of this retrospective study was to analyse the clinical and radiographic outcome in paediatric femoral neck fracture and to review the role of early decompression of the hip in the final outcome. PATIENTS AND METHODS The study was performed at the Department of Paediatric Orthopaedics and Traumatology, University Childrens Hospital in Belgrade, Serbia from January 1996 to January 2010. The study included 28 patients, 12 female and 16 male, aged 4-14 years. Patients who were aged over 14 years or who had pathological femoral neck fractures or metabolic disturbances were excluded from the study. The type of neck fracture was determined according to the Delbet and Colonna classification. The patients were treated using different surgical procedures: closed reduction and cast immobilisation, closed reduction and percutaneous fixation with Kirschner wires (K-wires), closed reduction and fixation with cannulated screws and open reduction with Wagner plate stabilisation. The final outcome was evaluated using the clinical outcome (based on the Howorth-Ferguson scale), radiographic outcome and occurrence of complications. RESULTS The median age of patients included in the study was 10.75 years and the average follow up was 9 years. According to the Delbet classification, there was one patient with type I, eight patients with type II, 16 patients with type III and three patients with type IV femoral neck fracture. Based on the Colonna classification, there were 23 displaced and five non-displaced femoral neck fractures. Decompression of the hip was performed in 21 patients. Avascular necrosis (AVN) developed as the main complication in 11 patients. The final outcome was excellent in 14 patients, good in four patients and poor in 14 patients. CONCLUSION Our study unequivocally confirms the positive effect of urgent treatment on the incidence of AVN as well as on the outcome. We have established a 12-hour interval after injury as an optimal time limit for commencing treatment. Unambiguously positive effects of hip decompression on the incidence of AVN were also noted. We found similar efficiency for open and needle hip decompression.

Pyogenic arthritis of sacroiliac joint in children

INTRODUCTION Pyogenic infection of sacroiliac joint (SIJ) is very rare in children. It is the result of haematogenous spread primarily affecting the joint. The process is usually monoarticular. By rule, sequestra are rarely formed, there are no greater bone destructions, but there is usually early bone sclerosing. CASE OUTLINE Due to the pain in the lumbosacral area spreading down the right leg and positive Lazarevics sign, a 13-year-old boy was referred to a neuropaediatrician. He was suffering from lumbosciatica. In the first three sick days, laboratory tests were done as well as X-ray examination. High febrility and laboratory results indicated the existence of infection of unknown localisation. Diagnostic examination: radiography of the lungs and heart, computerized tomography (CT), nuclear magnetic resonance (NMR), ultrasound (US) of hips and painful sacroiliac area and US of abdomen could not localise the infection. Radiography of SIJ (Barschoni) focused the attention on SIJ). Scintigraphy of the skeleton with 99mTc-DPD pointed to the intensified collection of radiopharmaceuticals in the area around SIJ. Localised changes, erythema and signs of abscess in the projection of SIJ appeared the fifth day since the appearance of the disease. Incision was performed as well as evacuation of purulent content, and bacterial analysis isolated Staphylococcus aureus. Therapy with antibiotics was applied according to the antibiogram three weeks parenterally (intravenously) and two weeks per os. After five weeks, clinical and laboratory results were normal. The patient has been monitored for eight months since the appearance of the disease. Conclusion In children with symptoms and signs of lumbosciatica, among other things, attention should be paid, differentially and diagnostically speaking, to pyogenic infection of SIJ. The skeletal scintigraphy helps early diagnosis of pyogenic infection of SIJ, when localised clinical signs have not been formed yet. In our patient, the infection was caused by localised spreading from a skin abrasion.

The Effect of Clinical, Radiographic and Functional Scores on the Total Score in the Evaluation of Congenital Clubfoot

Introduction: The use of radical surgical treatments in treating congenital clubfoot is decreasing. Minimally invasive surgical treatment (MIST) is a way of treating congenital clubfoot, which is a kind of compromise between a radical surgical treatment and non-operational one. A few protocols of different authors McKay, Macnicol, Stevens, Meyer, G.W.Simons and Laaveg-Ponseti were used in the evaluation of the results. SCIENTIFIC OBJECTIVE: To determine the importance and role of groups of parameters (clinical, radiographic and functional) in the evaluation of the results in patients treated with the two methods (radical operation and MIST). Subjects and methods: This paper covers children who were treated for structural (idiopathic) form of PEVC. The testing is a prospective study and was conducted in two groups of patients. Group A (radical surgical treatment) – control group, where the total number of subjects was 50, out of which 35 male (70%) and 15 female (30%). The number of feet tested was 88. Group B (minimally invasive surgical treatment–MIST)–experimental group. The total number of subjects was 48, out of which 35 male (73%) and 13 female (27%). The number of feet tested was 84. For the analysis of the results, we used a questionnaire. The total number of parameters was fifteen, clinical, radiographic and functional, five parameters of each. Normal findings or measured value was determined by 0 points. The range of the total score (TS-a- total score range) 0-27 points, and the results were sorted out into the folowing categories: good result (0-5) satisfactory (6-11), poor (12-19) and deformity recrudescence (20-27) points. Results: The proportion of good results at 88 feet in group A was 0,477 as at 84 feet in group B it was significantly higher and came to 0,893. The difference between these proportions is statistically highly significant (t = 5.84, p <0.001). Chi-square test (χ2 = 30.083 df = 1 N = 172, p <0.001) indicated that there is a highly significant correlation between the method of treatment used and results of treatment. Good results of treatment in group A were observed in 48% and in group B in 88% of cases. The Charles Spearman nonparametric method showed that the rank correlation coefficients for the group A are positive, quite high (between 0.70 and 0.85), similar and statistically highly significant (p <0.001). The influence of radiographic scores on the total score is the lowest, and clinical score on the overall score is the highest. Rank correlation coefficients for group B were also positive but somewhat smaller than in group A (between 0.55 and 0.75) and statistically highly significant (p <0.001). It is possible to notice the difference here and say that the impact of functional scores on the total score is the highest and of radiographic score the lowest. Conclusion: Minimally invasive surgical treatment (MIST) gives better functional results in the treatment of congenital clubfoot than radical surgical treatment. The role of radigraphic parameters in the evaluation of the results of the treatment was the slightest regardless of whether the treatment was radical surgery or MIST. We believe that radiography for routine analysis of the results of treatment need not be used.

Clinical characteristics and survival of children with langerhans cell hystiocytosis

INTRODUCTION Langerhans cell histiocytosis is a rare disease in children, initial presentation is variable, clinical course, prognosis and survival are mostly unpredictable. OBJECTIVE To summarise clinical characteristics and treatment results in children with Langerhans cell histiocytosis. METHOD Retrospectively there were analysed patients with LCH diagnosed and treated at Haematology Department of University Childrens Hospital in Belgrade from 1990 to 2006. Clinical presentation, therapy and survival according to Kaplan-Meiers statistical test was analysed. RESULTS 30 patients were treated, aged from 4 months to 14 years, mean 3.9 years, median 2.3 years, 18 (60%) males, 12 (40%) females. A single system disease was diagnosed in 16 (53%) patients, of whom 6 patients with multifocal bone disease. All patients were in complete remission averagely following 162 and 82 months respectively. Multisystem disease was found in 14 (47%) patients. The lymph nodes and skin were more frequently involved organs than the central nervous system (diabetes insipidus), lung, liver and spleen. The number of involved organs ranged from 2 to 8, mean 4.2. Four patients died due to disease progression 3, 16, 36 and 66 months after diagnosis. Nine patents with multisystem disease were in remission with 117 months of follow-up. One patient was lost on follow-up. CONCLUSION The clinical course of patients with a single system disease is usually benign while a multisystem disease has to be aggressively treated with precise initial evaluation and staging before therapy.