Gender and morphogenetic variability of patients with spina bifida occulta and spina bifida aperta: prospective population-genetic study.

BACKGROUND: Aim of our study was to evaluate degree of genetic homozygosity in male and female gender of spina bifida (SB) occulta and SB aperta patients. PATIENTS AND METHODS: We evaluated 95 patients with SB occulta and 51 with SB aperta. Degree of genetic homozygosity was evaluated by direct observation of 15 homozygously recessive characteristics (HRC) by HRC-test separately for SB occulta and SB aperta participants. Additionally 370 individuals without SB from Serbia were randomly selected and evaluated as control group. Male and female gender was separately evaluated for assessing degree of genetic homozygosity. RESULTS: There was no significant difference in mean values of HRC between male and female gender in control group (male gender -3.9±1.2, female gender -4.0±1.4, z=0.39; p>0.05), SB occulta (male gender -4.1±1.5, female gender -4.7±1.4, z=1.87, p>0.05) and SB aperta patients (male gender -4.3±1.6, female gender -4.5±1.4, z=0.66, p>0.05), while there was significantly increased recessive homozygosity in female SB occulta group versus control female group (Females: SB occulta -4.7±1.4, Control group -4.0±1.4, z=3.16, p<0.01) and female SB aperta group versus control female group (Females: SB aperta -4.5±1.4, Control group -4.0±1.4, z=2.05, p<0.05). CONCLUSION: There is increased recessive homozygosity in tested female SB occulta and female SB aperta individuals versus SB male participants and significantly increased recessive homozygosity in female groups of SB patients versus control female group. These findings could lead to the possible assumption that different genes in different degree might be expressed in SB occulta and SB aperta patients.

[Developmental dysplasia of the hip - epidemiological determinants and age assessment regarding time of surgical correction]. / Vývojová dysplázie kycelního kloubu - epidemiologické urcující faktory a zhodnocení veku vzhledem k dobe chirurgické lécby.

PURPOSE OF THE STUDY: Aim of the study was to analyze age structure of the patients with developmental dysplasia of the hip (DDH) at the time of the operation and epidemiological determinants: gender distribution, proportion of left or right hip affection, type of delivery and mode of labor presentation. MATERIAL AND METHODS: The population of 78 children with DDH was evaluated. Three age groups were analyzed: first group younger than 24 months of life, second group between 24 and 48 months and third group older than 48 months of life. Male and female gender was separately evaluated as well as type of delivery and mode of labor presentation. Separately, 2 groups regarding affected hip were analyzed: group with affected left hip and group with affected right hip. Radiographic findings (Collodiaphyseal angle, Hilgenreiner angle and Wibergs center-edge angle) and clinical findings (positive Trendelenburgs sign, reduced flexion angle (<114°), pain in the hip and incomplete crouch) were evaluated regarding: age of the patients, gender, mode of presentation and type of delivery. RESULTS: There was 33.3% of patients in the first age group, 46.2% of patients in second group and 20.5% of patients in third age group, and regarding gender, 17.9% of males and 82.1% of females. Vaginal delivery was predominant mode with distribution of 87.2% as well as head presentation with distribution of 71.8%. Distribution of children with affected left hip was 46.2% and right hip 53.9%. DISCUSSION: Majority of patients in the study were in the age group between 24 and 48 months of life, suggesting delay in on-time diagnostics of DDH. Female gender was more frequently affected by DDH and vaginal delivery as well as head presentation of newborn was significantly frequent in patients with DDH. It is shown that Collodiaphyseal, Hilgenreiner and Wibergs center-edge angles values are in correlation with the age structure of the patients with DDH at the time of diagnosis. Male gender tends more frequently to present with clinical findings. Reduced flexion angle of the hip is the frequent clinical finding for children with DDH that were born by breech presentation or delivered by Caesarean section. CONCLUSION: Female gender can be taken as one of possible risk factors during clinical examination of newborn regarding diagnostics of DDH, while breech presentation has been shown not to be one of possible risk factors. Early diagnostics and prompt treatment are beneficial in overall outcome for children with DDH. Therefore, there is great need for countinous education of orthopedic surgeons and pediatricians.

Double innominate osteotomy and the Smith-Petersen technique in the treatment of developmental hip disorder.

PURPOSE: The purpose of our study was to present results of different surgical orthopaedic approaches in the treatment of children with developmental hip disorder. MATERIAL AND METHODS: At the University Childrens Hospital in Belgrade, 21 young adults diagnosed with developmental hip disorder were treated with double osteotomy and with a modified Smith-Peterson approach during a period of 10 years, from 1997 to 2007. All patients were clinically and radiographically evaluated. RESULTS: We were successful with 23 hips in 20 patients, since some patients underwent surgery of both hips. The evaluation of improvement was done according to the Merle d'Aubigne and Postel system which indicated very satisfied outcome in five patients, satisfied in 8, fair in 7 and poor in one patient. CONCLUSIONS: In this paper we discuss the advantages and disadvantages of double osteotomy procedures compared with others that are used in the correction of developmental hip disorder. The best solution is adequate and timely diagnosis with proper correction of the deformity.

Individual phenotype trait variability as genetic markers of gender susceptibility to spina bifida.

We compared individual trait variability in 65 male and 81 female patients with spina bifida occulta (SBO) or spina bifida aperta (SBA) against 170 male and 200 female subjects randomly selected Serbian subjects without these conditions. Variability was evaluated by direct observation of 15 homozygous recessive traits (HRT), while gender was evaluated separately. Individual trait variations between genders in SBO patients (4/15 HRT) and in SBA patients (12/15 HRT) showed remarkable differences. Individual trait variations between the male control group and SBO (9/15 HRT), between the female control group and SBO (5/15 HRT), between the male control group and SBA (8/15 HRT), between the female control group and SBA (9/15 HRT), between male SBO and SBA patients (6/15 HRT), between female SBO and SBA patients (6/15 HRT), also indicated remarkable differences. These differences could be explained by different expression of genes that may contribute to expression of spina bifida (SB).

Physical therapy of non-neurogenic voiding dysfunction in children with occult spinal dysraphism.

BACKGROUND: In children with occult spinal dysraphism one of the symptoms is disbalance in bladder emptying and filling. Goal of our study was to estimate the correlation of medicamentous treatment alone and combined medicamentous and physical treatment in patients that are diagnosed with occult spinal dysraphism with non-neurogenic bladder dysphunction. METHODS: We evaluated 69 patients aged from 4 to 12 years treated at the University children's Hospital in Belgrade during 2005-2008 years period. In the first group of 29 patients only medicamentous therapy was implemented. In the second group of 40 patients combined medicamentous and physical therapy were applied. Physical therapy methods that were used included: transcutaneal electric nerve stimulation and exponential current. We monitored daily enuresis, enuresis nocturna, urgency and frequency. Urodynamic evaluation included: bladder capacity, onset of unstable contractions, residual urine and detrusor sphincter dyssynergia. RESULTS: Statistical analysis showed that there is significant improvement (p < 0.001) in all evaluated symptoms after 6 months and for urgency there was significant improvement (p < 0.05) after 3 months from the beginning of the treatment with combined therapy. Our study pointed out significant improvement in the group treated with combined therapy for detrusor sphincter dyssynergia and unstable contractions after 3 months while after 6 months from the beginning of the treatment there was significant improvement (p < 0.001) for all urodynamic parameters. CONCLUSIONS: Combined medicamentous and physical treatment is more beneficial for patients with non-neurogenic bladder instead of medicamentous treatment alone (Tab. 2, Ref. 11).

Congenital muscular torticollis in children: distribution, treatment duration and out come.

AIM: The aim of the study was to evaluate the proportion of left and right congenital muscular torticollis (CMT) in both genders and age groups of the patients as well as to evaluate the duration of physical therapy and treatment outcome in observed population. METHODS: In our study, 980 children with CMT without hematoma were treated at University children's Hospital of Belgrade (Serbia). They were divided into 2 groups: group with left torticollis and group with right torticollis. Boys and girls were separately evaluated. Patients were classified into 5 age groups: group of children less than one month of life, group above one to 3 months, group above 3 months to 6 months, group above 6 months to 12 months and group of children above 12 months of life. Optimal time for physical therapy was analyzed in every age group. RESULTS: We diagnosed 496 torticollis in boys and 484 torticollis in girls. There were 458 children with left torticollis and 522 children with right torticollis. In group of children less than one month of life median duration of physical therapy was 1.5+/-0.3 months, in group above one to 3 months of life 5.9+/-0.6, in group above 3 to 6 months 7.2+/-0.6, in group above 6 to 12 months 9.8+/-0.6 and in group of children above 12 months of life 10.3+/-0.8 months. CONCLUSION: Right torticollis is frequent in both genders and age groups. Younger children have lower treatment duration and better treatment outcome. Boys have longer treatment duration and not significantly better treatment outcome.

Orthopaedic patterns of retroperitoneal tumors in pediatric population.

The paper presents three children of various ages with tumors of different histology localized in the retroperitoneum. The children underwent investigation as orthopedic cases at the Orthopedic Department of the Belgrade University Childrens' Hospital. All children had orthopedic symptoms and several similar clinical findings: high or increased red blood cell (RBC) sedimentation, increased lactate dehydrogenase (LDH) and hypochromic anemia. Retroperitoneal tumors were diagnosed by echosonography. Further investigations were targeted towards histological verification and treatment protocol for retroperitoneal tumor. Since the children were presented chronologically to the deparmtent, diagnosis was reached more rapidly. It is our aim to draw attention to the possibility that various retroperitoneal tumors can be presented as orthopedic diseases. If symptomatology of retroperitoneal tumors is suspected and particularly in insufficiently clear cases, one should always perform echsonography of the retroperitoneum as a non-agressive, simple, readily available and reliable diagnostic method. This reduces examination time, direction of patients to further treatment according to pathology and also in reduction of risk both for patient and orthopedic surgeon who normally are presented with such diseases (Fig. 2, Ref. 10). Full Text (Free, PDF) www.bmj.sk.

Rehabilitation protocols in children with corrected congenital heart defects due to the presence of pulmonary complications.

BACKGROUND: The Aim of our study was to present early rehabilitation protocols for children with and without pulmonary complications after the correction of congenital heart defects and to estimate the optimal time for the initiation of early rehabilitation in both groups of children. METHODS: In our study, 176 children treated at the University Children's Hospital in Belgrade were evaluated during the period 2003-2007. All patients were children with the corrected congenital heart defects from birth to 12 months of life. RESULTS: In the group of patients without pulmonary complications we administered 3.64 +/- 1.02 exercises and in the group with present pulmonary complications we implemented 2.71 +/- 0.79 exercises. The optimal time for the initiation of early rehabilitation is 1.54 +/- 1.37 days for the group of children that did not have pulmonary complications, but for the other group the period was longer: 2.27 +/- 1.68 days. DISCUSSIONS: The optimal number of exercises in children younger than one year of life is from 2 to 4 and the early rehabilitation should start as soon as possible. A desirable time for beginning of such program is within 24 to 48 hours post surgery but it cannot be limited to this interval due to possible complications stating that every child should have an individual approach (Tab. 3, Ref. 14).

[The influence of duration of Kleinert immobilization on the functional recovery of primarly reconstructed flexor tendons in children and adult patients].

Flexor tendon repair in the hand is very often complicated by the formation of peritendinous adhesions that result in loss of normal tendon gliding, digital stiffnes and functional disability. While stability is critical for a successful tendon repair, mobility is also important, as motion of the repaired tendon decreases the formation of postoperative adhesions and increases the strength of the repair. Immobilization and its duration, can ensure the integrity of the repair but can also lead to scaring, stiffness, and joint contractures. This study included 20 children and 39 adult patients, in the period from January 2000 to April 2003., with flexor tendon ruptures of the hand. Tendons were primary repaired using direct tennoraphy, and postoperately patients were treated with Kleinert dynamic imobilization. The aim of this study was to investigate the influence of the duration of the dynamic immobilization on successful postoperative functional recovery, separately in children and adult patients. Research in this area has been directed at achieving the optimal balance between stability and mobility, without compromising one for the other.

[Postoperative rehabilitation in patients with peripheral nerve lesions]. / Postoperativna rehabilitacija bolesnika sa lezijom perifernih nerava.

UNLABELLED: Injuries of extremities can be followed by various neuromuscular complications. Injury of peripheral nerves directly depended on the topographic localization of injury (fractures, cuts, contusions). The neuromuscular complications were diagnosed and under follow-up, based on clinical, x-ray, neurologic and neurophysiological findings. The timing of physical treatment and assessment of the necessary neurosurgical intervention depended on the obtained findings. After surgeries, we continued to apply physical treatment and rehabilitation. The aim of the paper was to assess the significance of proper timing for surgery and adequate postoperative rehabilitation, as well as treatment results, depending on the extent of peripheral nerve injury. MATERIAL AND METHODS: Based on the study condocted in the period from 2000-2002, most surgeries were done on the ulnar nerve (4 pts), median nerve (4 pts), radial nerve (3 pts), peroneal nerve (2 pts) and plexus brachialis (3 pts). Paresis and peripheral nerve paralysis, associated with sensibility disorders, predominated in clinical features. In most patients surgery was done during the first 3-6 months after injury. In early postoperative Postoperative rehabilitation in patients with peripherial treatment positioning of extremities with electrotherapy were most often used in early postoperative treatment, Bioptron and dosed kinesitherapy. Depending on the neurophysiological findings, in later treatment stage we included electrostimulation, thermotherapy, kinesitherapy and working therapy, with the necessary application of static and dynamic orthroses. Study results showed that the success of treatment depended on the extent of injury, i.e. whether suture of liberalization of the nerve had been done, on the adequate timing of surgery, as well as on the adequate timing and application of physical therapy and rehabilitation. More rapid and complete functional recovery was achieved if the interval between injury and surgery was shorter, as well as physical therapy was applied early. Based on the analysis of the achieved results, we concluded that peripheral nerve lesions after fractures and contusions had better prognosis in relation to isolated sections of peripheral nerves, having in mind that these were mostly conductive block transfer and nerve stretching lesion, which do not leave sequelae after completed treatment After neurorrhaphies and applied therapy, motor and sensitive deficit mostly depended on good timing of surgery and continual psychiatric treatment. It is also important to point out the significance of team-work among neurosurgeon, neurologist and psychiatrist necessary in early detection and successful treatment of numerous sequelae and invalidity in patients with peripheral nerve lesions.

[Kinesitherapy in the treatement of paralysis of plexus brachialis in the newborn]. / Mogucnosti kineziterapije oduzetosti pleksusa brahijalica kod novoredjenceta.

In the treatment of this deformity in a newborn infant, the priority is given to physical therapy with additional orthopaedic treatment, such as adduction splints. In our opinion the treatment of such a defect should start as soon as possible, i.e., immediately after birth. This kind of treatment is usually long and persistent. By this treatment muscular atrophy, muscular corrective contractures wich cause serious invalidism in these young patients, should be prevented. In fact, inadequately treated children remain invalids for their whole life because a deformed arm will never be in complete function. Furthermore, from the aesthetic point of view, such an arm provokes a negative feeling in other persons. Therefore, we insist on the early appropriate treatment which is the only guarantee for good results.

Detrusor function with lesions of the cauda equina, with special emphasis on the bladder neck.

A total of 13 patients with proved lesions of the cauda equina underwent neurological evaluation. All patients had video urodynamic testing, while 9 underwent a varying combination of pelvic floor electromyography, lumbosacral evoked potentials to tibial nerve stimulation and the sympathetic skin response from the perineum. All patients had detrusor areflexia with varying degrees of bladder neck incompetence. Reports of clinical and experimental studies are discussed in relation to the pathophysiology of bladder neck function following lesions of the pudendal and preganglionic pelvic nerve to explain why there have been conflicting reports in the literature regarding bladder neck function with lesions of the cauda equina. The adaptive changes observed in the experimental animal, consisting of random regeneration of the cholinergic neuroeffective junctions, adrenergic hyperinnervation and an increased sensitivity of the prejunctional inhibitory muscarinic receptors on the adrenergic nerve, may explain the degree of variability of bladder neck incompetence observed clinically.

[The importance of physical therapy in the treatment of Volkmann's contracture in children]. / Znacaj fizikalne terapije u lecenju Folkmanove kontrakture kod dece.

Over the period from 1981 to 1991 twenty-eight children were treated for neurovascular posttraumatic complications (Volkman's contracture), in the Centre for rehabilitation and physical medicine of the Children's surgical department in Belgrade. The success of the treatment depended on how a patient was examined for the first time, and how soon a proper diagnosis was established. On the basis of our experience we insist on an early physical treatment, i.e. while the injured segment is immobilized. An early kinesitherapy followed later by electrotherapy, parafino-therapy, vitamin B therapy and use of corrective plaster cast splints is the best way in treating lesions. The treatment lasted from 3 to 6 months depending on the seriousness of an injury. If there was no good result with physical therapy we carried out surgery followed by physical therapy upon the removal of immobilisation devices.