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).

[Congenital pseudoarthrosis of the tibia treated with the free microvascular fibula].

Congenital pseudoarthrosis (CPT) of the lower leg is still a considerable therapeutic problem. There are many surgical and other procedures to manage pseudoarthrosis, but the results are not always satisfactory, unfortunately, and are accompanied by a big number of complications, even limb amputation in some cases. The most complicated surgical procedure is transplantation of the autogenous free microvascular fibula coil which has had the best results momentarily. We are showing a case of a 2.5-year old patient with congenital pseudoarthrosis of the lower leg previously treated unsuccessfully by a conventional surgical method. This is at the same time the first case of such operative treatment of CPT in the territory of Serbia and Montenegro as well as former Yugoslavia. The patient was operated in October 1992.

Bladder exstrophy and anterior pelvic osteotomy.

Between August 1988 and December 1991, 36 children with bladder exstrophy underwent surgery for primary bladder reconstruction. Each child was either untreated or had already been treated unsuccessfully. The operative technique involved bilateral osteotomy of the superior ramus of the pubic bone. In infants the cartilaginous ischiopubic junction, acting as an articulation, allowed symphyseal approximation, while in older children this was achieved by fracture of the inferior ramus of the pubic bone. The bladder was either closed or, in most cases, the exstrophic bladder plate was inserted deep into the pelvis, allowing subsequent epithelialisation of the bladder and further formation and growth. Follow-up up for 3.5 years showed bladder capacities of 40 to 150 ml. Some patients underwent an additional augmentation enterocystoplasty. Primary bladder reconstruction remained uncompromised in 7 patients who developed moderate (and 1 complete) rediastasis of the pubic bones. All exstrophic bladders are reconstructible, particularly in older children.

Effects of triple prevention of CDH, stimulated by distribution of "baby packages".

Triple prevention of congenital dislocation of the hip (CDH) consists of screening and earliest treatment in newborns, universal wide diapering in all presumably healthy hips, and repeated screening and early treatment in infants. Preventive activity proved to be decisively stimulated by introduction of "baby packages," containing equipment for wide diapering, which are being distributed to every newborn free of charge. Since the introduction of baby packages, prevalence of CDH dropped from 1.3 to 0.7% despite incomplete distribution. Likewise, incidence of surgery for CDH decreased sevenfold.