Clinical Characteristics and Whole Exome Sequencing Analysis in Serbian Cases of Clubfoot Deformity-Single Center Study.

BACKGROUND: Recognized as one of the most serious musculoskeletal deformities, occurring in 1-2 per 1000 newborns, 80% of clubfeet are idiopathic while 20% present with associated malformations. The etiopathogenesis of clubfoot is described as multifactorial, including both genetic and environmental risk factors. The aim of this study was to analyze possible genetic causes of isolated and syndromic clubfoot in Serbian children, as well as to correlate clinical and genetic characteristics that would provide insight into clubfoot etiopathogenesis and possibly contribute to global knowledge about clinical features of different genetically defined disorders. METHODS: We evaluated 50 randomly selected, eligible children with clubfoot aged 3 to 16 years that were initially hospitalized and treated at University Children's Hospital between November 2006 and November 2022. The tested parameters were gender, age, dominant foot, affected foot, degree of deformity, treatment, neuromuscular disorders, positive family history, and maternal smoking. According to the presence of defined genetic mutation/s by whole exome sequencing (WES), patients were separated into two groups: positive (with genetic mutation/s) and negative (without genetic mutation/s). RESULTS: Seven patients were found to be positive, i.e., with genetic mutation/s. A statistically significant difference between categorical variables was found for families with a history of clubfoot, where more than half (57.14%) of patients with confirmed genetic mutation/s also had a family history of genetic mutation/s (p = 0.023). CONCLUSIONS: The results from this study further expand the genetic epidemiology of clubfoot. This study contributes to the establishment of genetic diagnostic strategies in pediatric patients with this condition, which can lead to more efficient genetic diagnosis.

Sports Games and Motor Skills in Children, Adolescents and Youth with Intellectual Disabilities.

(1) Background: Sports games are one of the best ways of engaging in physical activity for individuals with intellectual disabilities (ID) and Down syndrome (DS). This systematic review of the current literature aims to identify and sum relevant data on motor skills and clarify whether there are positive effects of sports programs in motor skills games in children, adolescents, and youth with ID and DS. (2) Methods: The systematic review of the papers was carried out following the methodological guidelines and by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) consensus. The following electronic databases were researched: PubMed, MEDLINE, Google Scholar, ScienceDirect, and ERIC from 2001 to 2023. (3) Results: The basketball test battery can be used to improve and monitor basketball training. Basketball players with lower levels of ID achieved better results, especially those with disabilities of the II and III degrees. Futsal has a positive impact on the coordination, and the differences between the test results of the vertical jump with and without an arm swing, that can be seen indirectly as a coordination factor, were statistically significant. (4) Conclusions: Basketball is recommended as an effective and practical rehabilitation program for children, adolescents, and youth with ID and DS. Futsal is an interesting and helpful activity for individuals with ID as well.

Morphometric Parameters and MRI Morphological Changes of the Knee and Patella in Physically Active Adolescents.

Background and Objectives: The immature skeleton in a pediatric population exposed to frequent physical activity might be extremely prone to injuries, with possible consequences later in adulthood. The main aim of this study is to present specific morphometric parameters and magnetic resonance imaging (MRI) morphological changes of the knee and patella in a physically active pediatric population. Additionally, we wanted to investigate the morphological risk factors for patellar instability. Materials and Methods: The study included the MRI findings of 193 physically active pediatric patients with knee pain. The participants underwent sports activities for 5 to 8 h per week. Two divisions were performed: by age and by patellar type. We evaluated three age groups: group 1 (age 11-14), group 2 (age 15-17), and group 3 (age 18-21 years). In addition, participants were divided by the patellar type (according to Wiberg) into three groups. The following morphometric parameters were calculated: lateral trochlear inclination (LTI), the tibial tubercle-trochlear groove distance (TT-TG), trochlear facet asymmetry (TFA), Insall-Salvati index, modified Insall-Salvati index, Caton-Deschamps index, articular overlap, morphology ratio and contact surface ratio. Results: We found a statistically significant association between patellar type groups in LTI (p < 0.001), TFA (p < 0.001), Insal-Salvati (p = 0.001) index, and Caton-Deschamps index (p = 0.018). According to age groups, we found statistical significance in the Caton-Deschamps index (p = 0.039). The most frequent knee injury parameter, according to Wiberg, in physically active pediatric patients was patella type 2 in boys and type 3 in girls. Conclusions: The MRI morphometric parameters observed in our study might be factors of prediction of knee injury in physically active children. In addition, it might be very useful in sports programs to improve the biomechanics of the knee in order to reduce the injury rate in sports-active children.

Participation in Bullying and Associated Health Characteristics, Risk Factors and Leisure Activities: A Profile of School-Age Children in Serbia.

The aim of this study was to examine the prevalence and association of school-age children's participation in bullying, focusing on their health characteristics, risk factors, and leisure activities. We performed a secondary analysis of the original data of the 2017 HBSC study to examine participation in bullying once and multiple times among school-age children in Serbia. For this purpose, a nationally representative sample of 3267 children from 64 primary and high schools in the Republic of Serbia was evaluated. The outcome variable of interest in our study was participation in bullying. Further groups of individual variables such as health characteristics, risk factors, and leisure activities were assessed. Multivariate regression analysis indicated that children who felt everyday stomach pain, irritability or bad mood, and nervousness were more likely to participate in bullying at least once compared with those who rarely or never had such symptoms by 1.46, 1.58, and 1.58 times, respectively. School-age children who reported being drunk two to three times, and four or more times in life were more likely to participate in bullying than those who reported never being drunk by 1.53 and 1.74 times, respectively. Children who reported to watch TV or other media for five or more hours per day were 2.34 times more likely to be involved in bullying at least once. Multiple regression analysis showed that students with daily stomach pain, back pain, nervousness, and dizziness were more likely to be involved in multiple bullying by 1.16, 1.62, 1.82, and 1.70 times, respectively. Students who had nightly meetings or reported being drunk four or more times in the last 30 days were more likely to be involved in multiple bullying by 2.54 and 3.47, respectively. Students who reported playing games five or more times per day were 2.70 times more likely to be involved in this multiple bullying. This study highlights the importance of professional and family education programmes for early identification of specific health symptoms in the pediatric population, as well as integration with interventions aimed at reducing alcohol abuse among school-age children.

Vitamin D and Forearm Fractures in Children Preliminary Findings: Risk Factors and Correlation between Low-Energy and High-Energy Fractures.

Background: The forearm is the most common fracture site in childhood, accounting for every fourth pediatric fracture. It is well described that vitamin D is involved in the regulation of bone mineralization and skeletal homeostasis by the regulation of calcium absorption. The aim of our study was to determine the influence of 25-hydroxyvitamin D levels on forearm fracture falls in a pediatric population, depending on level of energy impact. Additionally, we also aimed to evaluate the correlation between 25-hydroxyvitamin D levels and other tested risk factors for pediatric fractures. Methods: We evaluated 50 eligible children aged 3 to 12 years with a forearm fracture. According to energy impact, patients were grouped into low-energy fractures (LEF) and high-energy fractures (HEF) groups. The general characteristics of the patients included age, gender, sport participation, and fractured bone and its localization. We analyzed 25-hydroxyvitamin D, parathyroid hormone (PTH), calcium, magnesium, phosphate, C-reactive protein (CRP) levels, and body mass index (BMI). Results: There is a significant difference in the 25-hydroxyvitamin D levels distribution between LEF and HEF (p < 0.001) and PTH levels (p = 0.002). For magnesium levels, calcium levels, phosphate levels, and CRP levels, there were no significant differences in their frequency distribution. For the group of patients with LEF, there is a significantly positive correlation between 25-hydroxyvitamin D and calcium levels (p = 0.019) and a borderline significantly positive correlation between 25-hydroxyvitamin D and magnesium levels (p = 0.050). For the group of patients with HEF, there was only a significantly positive correlation between 25-hydroxyvitamin D and PTH levels (p < 0.001). Conclusions: Children with LEF were more frequently insufficient in 25-hydroxyvitamin D levels but had normal calcium levels, compared to the ones with HEF. These findings suggest that LEF and HEF in children might to a certain degree have different pathophysiological mechanisms.

Brachial plexopathy as a consequence of nerve root swelling after shoulder trauma in a patient following an acute seizure.

BACKGROUND: Epileptic seizures might be associated with an increased risk of fractures, either as a result of trauma after a fall or as a result of excessive muscle contraction. In the pediatric population, excessive muscle contraction is a more significant risk factor for fractures, due to the lack of maturity in the musculoskeletal system, while antiepileptic therapy itself can lead to a reduction of bone density. Proximal humeral fractures in the pediatric population are not frequent but both proximal humeral fractures and shoulder dislocation increase the chance of brachial plexus injuries and peripheral nerve lesions. CASE: In this case report, we present a patient who suffered both avulsive greater tuberosity humeral fracture and anterior shoulder dislocation, initially diagnosed by radiography, with consequent brachial plexus injury of the left arm after an epileptic seizure followed by excessive muscle contraction. Electromyoneurography initially showed amplitudes` reduction in tested nerves along with signs of muscle denervation as well as clinical examination signs of the left arm muscular hypotrophy and hypoesthesia, especially in the left humero-scapular region. Electrotherapy and kinesitherapy as well as intramuscular dexamethasone injections administered three weeks after the injury finally improved the clinical examination findings in the patient. CONCLUSION: The early detection of swelling compression, accompanied with appropriate therapy may prevent the progression of axonal damage and preserve the functional status of the affected limb.

Sociodemographic predictors of pain in old people : Serbian population-based study.

BACKGROUND: With the growing increase in the older proportion of the world population, there is also an increase in specific age-related chronic diseases and conditions, including pain. We aimed to evaluate the association of sociodemographic factors with the presence and different degrees of pain intensity in people aged 65 years and older. METHODS: The population-based study, conducted in 2013, included 3540 individuals from Serbia. As pain predictors, we analyzed further sociodemographic characteristics: gender, age, body mass index, level of education, marital status, and wealth index. For pain assessment, we used the pain domain of the SF-36 version 2.0 questionnaire. RESULTS: People over the age of 85 years are 27% more likely to have moderate pain than younger respondents; however, pain is less likely reported by men (by 42%), persons with overweight (by 23%) or obesity (by 21%), respondents with secondary (by 50%) or university education (29%), as well as those belonging to the upper household wealth index (by 22%), than by their counterparts. CONCLUSION: Pain is less likely in people of age below 85 years, male gender, those with higher educational level and higher wealth index, as well as overweight or obese individuals. Also, we have demonstrated that sociodemographic predictors differently correlate with the onset of the pain and its severity degree in persons of 65 years and older.

Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida.

AIMS: In this study we analyzed the degree of genetic homozygosity among spina bifida patients with different degrees of neurogenic lesion (N = 82), as well as their clinical and neurological characteristics, compared to healthy control individuals (N = 100). METHODS: According to clinical and electromyographic findings, we separately assessed the type of neurogenic lesion (paresis or paralysis). Regarding the degree of neurogenic lesion, patients were classified into three groups: mild, moderate and severe. We analyzed six muscles. For assessing the degree of individual genetic homozygosity, we tested the presence and distribution of 15 homozygous recessive characteristics (HRC). RESULTS: The predominant type of neurogenic lesion was paresis. Every third evaluated muscle was affected in the group with mild neurogenic lesion, while more than half were affected in the group with severe neurogenic lesion. The average values of HRCs among different groups of patients and the control showed the population-genetic differences that exist among them (control HRC/15=3.0±0.2; mild HRC/15=3.6±0.2; moderate HRC/15=4.8±0.3; severe neurogenic lesion HRC/15=5.0±0.3). CONCLUSIONS: Spina bifida patients have a significant increase of recessive homozygosity and a decreased variability compared to the control group. As neurogenic lesions are more severe, more affected muscles are present, as well as the increase of individual recessive homozygosity.