Abnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene.

Mutations in pank2 gene encoding pantothenate kinase 2 determine a pantothenate kinase-associated neurodegeneration, a rare disorder characterized by iron deposition in the globus pallidus. To extend our previous work, we performed microinjections of a new pank2-specific morpholino to zebrafish embryos and thoroughly analyzed vasculature development. Vessels development was severely perturbed in the head, trunk, and tail, where blood accumulation was remarkable and associated with dilation of the posterior cardinal vein. This phenotype was specific as confirmed by p53 expression analysis and injection of the same morpholino in pank2-mutant embryos. We can conclude that pank2 gene is involved in vasculature development in zebrafish embryos. The comprehension of the underlining mechanisms could be of relevance for understanding of pantothenate kinase-associated neurodegeneration.

Longitudinal Development of Segmental Trunk Control in Full Term and Preterm Infants- a Pilot Study: Part I.

Purpose: No previous study examined trunk control development in preterm infants. The present study examined the longitudinal development of segmental trunk control from 4 to 12 months of (corrected) age in preterm infants in comparison with full-term infants.Methods: Thirty-one preterm infants and 30 full-term infants were recruited. All infants were tested monthly using the Segmental Assessment of Trunk Control and the Alberta Infant Motor Scale at 4, 8 and 12 months of age.Results: Segmental trunk control development was significantly delayed in the preterm infants. Statistically significant positive correlations were found between trunk control status and gross motor skills.Conclusion: This was first study showing that segmental trunk control development was significantly different in preterm infants. Segmental trunk control and gross motor performance were coupled in young infants. A dual focus on training upright trunk control and specific motor skills may maximise therapy outcomes for infants with motor delay.

Longitudinal Development of Segmental Trunk Control in Full Term and Preterm Infants- a Pilot Study: Part II.

Purpose: To explore the relationship between segmental trunk control and specific gross motor skills at 4, 8 and 12 months of (corrected) age in young infants.Methods: Thirty-one preterm infants and 30 full-term infants were recruited by convenience. All infants were tested using the Segmental Assessment of Trunk Control and the Alberta Infant Motor Scale at 4, 8 and 12 months of age.Results: The gross motor function in supine at 4 months and in the standing position at 12 months was significantly delayed in the preterm infants. Positive correlations were found between segmental trunk control levels and specific motor skills in prone, supine, sitting and standing positions at 8 and 12 months of age.Conclusion: This report was the first to demonstrate the association between segmental trunk control and specific gross motor skills in young infants. This new information provides clinicians with greater understanding about infant development.

Trunk Growth in Early-Onset Idiopathic Scoliosis Measured With Biplanar Radiography.

STUDY DESIGN: Cross-sectional and longitudinal retrospective study. OBJECTIVES: To measure thoracic dimensions and volume during growth in early-onset idiopathic scoliosis (EOIS) patients and to compare them to a population of asymptomatic adults and to the previous literature. SUMMARY OF BACKGROUND DATA: Data on trunk growth for scoliotic children between 6 and 14 years of age is sparse in the literature. METHODS: Thirty-six patients (29 girls and 7 boys, between 3 and 14 years old, average Cobb angle 33°±15°) were included, all with a minimum two-year follow-up. Sixty-one asymptomatic girls and 54 asymptomatic adults were included as control groups. All subjects underwent biplanar radiography and 3D reconstruction of the spine, pelvis, and rib cage. EOIS patients repeated their radiologic examination every six months. Cobb angle, rib cage volume, anteroposterior and transverse diameters, thoracic index, thoracic perimeter, pelvic incidence, and T1-T12 and T1-S1 distance were calculated. Reproducibility of measurement was assessed. RESULTS: Measurement reliability in such young patients was comparable to previous studies in adolescents and adults. Geometrical parameters of EOIS patients increased linearly with age. For instance, rib cage volume in girls with EOIS increased from 2200 cm3 at six to seven years of age to 4100 cm3 at 13-14 years (65% of adult values, 294 cm3/y). Comparison with asymptomatic girls showed that EOIS could affect growth spurt. Longitudinal analysis on a cohort of six girls who had a follow-up of six years confirmed the cross-sectional data. CONCLUSIONS: In this longitudinal and cross-sectional study, trunk growth between 3 and 14 years of age was characterized, for the first time, with biplanar radiography and 3D reconstruction. The results can be useful to estimate patient growth and thus have potential application in the surgical planning of EOIS patients. LEVEL OF EVIDENCE: Level II, retrospective study.

Relationship Between Trajectories of Trunk Fat Development in Emerging Adulthood and Cardiometabolic Risk at 36 Years of Age.

OBJECTIVE: This study examined trajectories of trunk fat mass (FM) accrual during emerging adulthood of individuals categorized, at 36 years of age, as having higher compared with lower scores of (1) metabolic risk and (2) blood pressure risk. METHODS: Fifty-five individuals from the Saskatchewan Pediatric Bone Mineral Accrual Study (1991-2017) were assessed from adolescence (mean [SD], 11.5 [1.8] years) through emerging adulthood (26.2 [2.2] years) and into early adulthood (35.6 [2.2] years) (median 11 visits per individual). Sex-specific median splits of continuous standardized risk scores at 36 years of age were created. Dual-energy x-ray absorptiometry-assessed trunk FM trajectories were analyzed using multilevel random effects models. RESULTS: Higher risk scores of blood pressure risk and metabolic risk had significantly steeper trajectories of fat development (0.45 [0.11] and 0.44 [0.11] log g, respectively) than the lower risk scores. Dietary fat was not related (P > 0.05). Physical activity was negatively related (-0.04 [0.02] physical activity score) to trunk FM development during emerging adulthood. CONCLUSIONS: Young adults with higher metabolic risk at 36 years of age had greater trunk FM development during both adolescence and emerging adulthood, supporting the need for intervention at both these critical periods of fat accrual.

[Growth Guidance System in Treatment of Early Onset Scoliosis]. / Systémy usmernovaného rustu v lécbe raných detských skolióz.

PURPOSE OF THE STUDY The Growth Guidance System (GGS) represent a relatively new alternative to the traditional growing systems used for the treatment of early onset scoliosis. Ranking among the main aims of this surgical treatment is a three-dimensional correction of the deformity, maintenance of spinal growth and postponement of the necessity of final treatment by spondylodesis. MATERIAL AND METHODS Our study retrospectively evaluates the results of surgical correction in a group of 35 patients treated by GGS technique. The group consisted of patients with idiopathic, neuromuscular and syndromic spine deformity with the average age of 8 years and 2 months at the time of the surgery. The time of the follow-up is 3 years and 5 months on average. We evaluated the correction of the curve itself, the growth of the spine measured in the thoracic and lumbar part separately, and the growth of the trunk as a whole in the mentioned range on X-ray pictures. RESULTS The average correction of the scoliotic curve was 67%, from 75 preoperative degrees to 20 postoperative degrees. After the first operation 11% elongation of the trunk (from 321 mm to 356 mm) was reached, the thoracic spine was elongated by 10% (from 196 to 217 mm) and the lumbar spine was elongated by 11% (from 125 to 139 mm). The elongation of the trunk by 16% (from 322 to 375 mm) was observed in the cohort of patients with two years postoperative follow-up (21 patients). The total protraction of the trunk by 21% (from 318 to 386 mm) was reached in patients treated by definitive fusion (7 patients). DISCUSSION There is a very low number of studies analysing the long-term clinical results with the use of GGS. The first pilot results indicate that it is a technique allowing to achieve at least comparable results in correction of frontal plane compared with the distraction type of instrumentations. A negative aspect of this method is the abrasion of metal followed by metallosis. The new types of fixation screws enable more effective sliding of rods, maintenance of continuity of body grow by the shifting of rods as well as lower abrasion of the instrumentation. CONCLUSIONS The main advantage of GGS is the limited continuous growth of the spine, partial three-dimensional correction of the deformity, minimisation of inevitable reoperations under general anaesthesia and the possibility to quit a brace. Key words: growth guided system, early onset scoliosis, distraction, spinal growth, spondylodesis.

Segmental Assessment of Trunk Control in infants from 4 to 9 months of age- a psychometric study.

BACKGROUND: Efficient trunk control is crucial in infant motor development when infants first learn how to move against gravity. Traditional assessments of trunk control commonly treat the trunk as one unit but the Segmental Assessment of Trunk Control (SATCo) assesses trunk control segment by segment. Good reliability and validity of the SATCo have been proved in children with neuro-disability but not yet validated in young infants. The present study was to examine if the SATCo was reliable, valid and responsive for infants aged 4 to 9 months. METHODS: Infants born at full-term and at less than 30 weeks of gestation were recruited and assessed using the SATCo monthly from 4 to 9 months of age (corrected for prematurity). Intra-class correlation coefficients (ICC) were used to examine intra- and inter-rater reliability between 2 raters. The ability of the SATCo to demonstrate differences between the full-term and preterm infants was examined using the Mann Whitney U test. The responsiveness of the SATCo on the full-term infants was tested using the Friedman test. RESULTS: Twenty full-term (mean gestation = 38.7 weeks; birthweight = 3019.9 g) and 20 preterm infants (mean gestation = 27.2 weeks; birthweight = 989.6 g) were recruited. The intra and inter-rater reliability of the SATCo levels on full-term infants was good (all ICC > 0.75), except inter-rater reliability at 6 months. The preterm infants scored significantly lower in reactive trunk control at 8 months (Mann Whitney U = 102.0, p = 0.016) but this was the only difference noted. A significant developmental trend was shown in the static, active and reactive trunk control of the full-term infants (Chi-square = 81.4, 75.6 and 79.5 respectively, all p < 0.001. CONCLUSIONS: The SATCo was reliable and responsive in assessing trunk control in young infants aged from 4 to 9 months. Care should be exercised when testing infants aged 5 to 6 months, who are more likely to use subtle hand support, and for those who have already achieved independent sitting. The SATCo could differentiate the reactive trunk control between the full-term and preterm infants at 8 months but not earlier. Psychometric properties of the SATCo in infants with motor disorders requires further investigation.

Identifying the level of trunk control of healthy term infants aged from 6 to 9 months.

This study identified the level of trunk control of healthy term infants aged from six to nine months. This cross-sectional study included fifty-five infants aged from six to nine months. The levels of trunk control was investigated by using the Segmental Assessment Trunk Control (SATCo). The infants remained seated on a wooden bench and a neutral pelvic position was maintained. The SATCo score was considered as dependent variable. The results showed that infants aged six and seven months presented levels of trunk control in the thoracic region while infants aged from eight to nine months presented full trunk control. These results demonstrate that younger infants present less levels of trunk control while older infants present full trunk control, confirming that trunk control development takes place in a segmental way and in a cephalocaudal direction. These results also might be used as a reference to distinguish infants that show a delay in trunk control from those who have suitable motor development and, thus intervene at an early stage to minimize later delays in these infants global motor development.

Upper limb and trunk muscle activation during an unexpected descent on the outstretched hands in young and older women.

Falling on the outstretched hands (FOOSH), a protective mechanism to arrest the body and avoid injury, requires upper limb and trunk motor control for effective body descent. The purpose of this study was to investigate muscle activity during three phases of an unexpected FOOSH in healthy older and younger women. Twenty young (mean age 22.9yrs, SD±3.7) and 20 older females (mean age 68.1yrs, SD±5.0) performed five trials of unexpected FOOSHs. Surface electromyography (EMG) determined muscle activations for left shoulder girdle, elbow and abdominal muscles during an unexpected FOOSH. Root mean squared EMG data were calculated during three phases: (1) baseline (BL; 500msprior to release), (2) the preparatory phase (PRE; time between release and impact) (mean 257±37ms) and post-impact (POST; 200msafter impact). A mixed MANOVA determined differences between phases and age groups. There was a significant multivariate interaction effect of age and time phase on muscle activity (p=0.001). Younger women had significantly higher internal oblique/transversus abdominus activity during PRE (p=0.006) as well as variations in muscle activity of shoulder girdle and elbow muscles. The age differences observed may lead to poorer preliminary trunk activation and greater arm bracing in older women, potentially increasing risk of fallrelated injury.

Comparison of impedance measurements near the skin of newborns and adults.

Electrical impedance tomography (EIT) is a non-invasive imaging technology that has been extensively studied for monitoring lung function of neonatal and adult subjects, especially in neonatal intensive care unit (NICU) and intensive care unit (ICU) environments. The sources of the total impedance in these applications include internal organs, near-boundary tissues, electrode-skin impedance, electrodes and conducting wires. This total impedance must be considered for system design and setting voltage gain since it will contribute to the measured voltage. To adapt a single instrument for use on infants and adults, we studied the difference between the impedance near the skin in both classes of patients. We used a simultaneous multi-source EIT (SMS-EIT) system to make impedance measurements. Characteristic resistance was calculated for two different current patterns: one that is more sensitive to boundary region impedance and another that is more sensitive to interior changes. We present ratios of these resistances to assess the relative contribution of near-skin effects to the overall impedance. Twenty adult ICU subjects (10 male, 10 female, age: 49.05 ± 16.32 years (mean ± standard deviation)) and 45 neonates (23 male, 22 female, gestational age: 37.67 ± 2.11 weeks, postnatal age, 2.56 ± 2.67 d) were studied at Columbia University Medical Center. Impedance measurements at 10 kHz were collected for approximately one hour from each subject. The characteristic resistance ratio for each subject was computed and analyzed. The result shows the impedance at or near the skin of newborns is significantly higher than in adult subjects.

Age-related differences in pelvic and trunk motion and gait adaptability at different walking speeds.

This study aimed at investigating age-related changes in gait kinematics and in kinematic adaptations over a wide range of walking velocities. Thirty-four older adults and 14 younger adults walked on a treadmill; the treadmill velocity was gradually increased in increments of 0.2miles/hour (mph) (1.1-1.9mph) and then decreased in the same increments. Pelvic, trunk, upper limbs and lower limbs angular total ranges of motion (tROM), stride time, stride length, and step width were measured. The older adults had lower pelvic, trunk tROM and shorter strides and stride time compared with the younger adults. As the treadmill speed was gradually increased, the older adults showed an inability to change the pelvic list angular motions (3.1±1.3° to 3.2±1.4°) between different walking velocities, while the younger adults showed changes (5.1±1.8° to 6.3±1.7°) as a function of the walking velocity. As the walking velocity increased, the older adults increased their stride length (from 57.0±10cm to 90.2±0.1cm) yet stride times remained constant (from 1.17±0.3sec to 1.08±0.1sec), while the younger adults increased stride length and reduced stride times (from 71.4±10cm to 103.0±7.9m and from 1.45±0.2sec to 1.22±0.1sec, respectively). In conclusion, the older adults were unable to make adaptations in pelvic and trunk kinematics between different walking speeds (rigid behavior), while the younger adults showed more flexible behavior. Pelvic and trunk kinematics in different walking speeds can be used as variables in the assessment of gait in older adults.

Dermatofibrosarcoma gigante de la pared torácica anterior / Giant Dermatofibrosarcoma Protuberans of the Anterior Chest Wall

No disponible

Early generalized overgrowth in autism spectrum disorder: prevalence rates, gender effects, and clinical outcomes.

OBJECTIVE: Although early head and body overgrowth have been well documented in autism spectrum disorder (ASD), their prevalence and significance remain unclear. It is also unclear whether overgrowth affects males and females differentially, and whether it is associated with clinical outcomes later in life. METHOD: To evaluate prevalence of somatic overgrowth, gender effects, and associations with clinical outcomes, head circumference, height, and weight measurements were collected retrospectively between birth and 2 years of age in toddlers with ASD (n = 200) and typically developing (TD; n = 147) community controls. Symptom severity, verbal, and nonverbal functioning were assessed at 4 years. RESULTS: Abnormalities in somatic growth in infants with ASD were consistent with early generalized overgrowth (EGO). Boys but not girls with ASD were larger and exhibited an increased rate of extreme EGO compared to community controls (18.0% versus 3.4%). Presence of a larger body at birth and postnatal overgrowth were associated independently with poorer social, verbal, and nonverbal skills at 4 years. CONCLUSION: Although early growth abnormalities in ASD are less common than previously thought, their presence is predictive of lower social, verbal, and nonverbal skills at 4 years, suggesting that they may constitute a biomarker for identifying toddlers with ASD at risk for less-optimal outcomes. The results highlight that the search for mechanisms underlying atypical brain development in ASD should consider factors responsible for both neural and nonneural tissue development during prenatal and early postnatal periods, and can be informed by the finding that early overgrowth may be more readily observed in males than in females with ASD.

Role of intensive training in the growth and maturation of artistic gymnasts.

Short stature and later maturation of youth artistic gymnasts are often attributed to the effects of intensive training from a young age. Given limitations of available data, inadequate specification of training, failure to consider other factors affecting growth and maturation, and failure to address epidemiological criteria for causality, it has not been possible thus far to establish cause-effect relationships between training and the growth and maturation of young artistic gymnasts. In response to this ongoing debate, the Scientific Commission of the International Gymnastics Federation (FIG) convened a committee to review the current literature and address four questions: (1) Is there a negative effect of training on attained adult stature? (2) Is there a negative effect of training on growth of body segments? (3) Does training attenuate pubertal growth and maturation, specifically, the rate of growth and/or the timing and tempo of maturation? (4) Does training negatively influence the endocrine system, specifically hormones related to growth and pubertal maturation? The basic information for the review was derived from the active involvement of committee members in research on normal variation and clinical aspects of growth and maturation, and on the growth and maturation of artistic gymnasts and other youth athletes. The committee was thus thoroughly familiar with the literature on growth and maturation in general and of gymnasts and young athletes. Relevant data were more available for females than males. Youth who persisted in the sport were a highly select sample, who tended to be shorter for chronological age but who had appropriate weight-for-height. Data for secondary sex characteristics, skeletal age and age at peak height velocity indicated later maturation, but the maturity status of gymnasts overlapped the normal range of variability observed in the general population. Gymnasts as a group demonstrated a pattern of growth and maturation similar to that observed among short-, normal-, late-maturing individuals who were not athletes. Evidence for endocrine changes in gymnasts was inadequate for inferences relative to potential training effects. Allowing for noted limitations, the following conclusions were deemed acceptable: (1) Adult height or near adult height of female and male artistic gymnasts is not compromised by intensive gymnastics training. (2) Gymnastics training does not appear to attenuate growth of upper (sitting height) or lower (legs) body segment lengths. (3) Gymnastics training does not appear to attenuate pubertal growth and maturation, neither rate of growth nor the timing and tempo of the growth spurt. (4) Available data are inadequate to address the issue of intensive gymnastics training and alterations within the endocrine system.

Segmental trunk control acquisition and reaching in typically developing infants.

This study explored the influence of an external support at the thoracic and pelvic level of the trunk on the success of reaching, postural stability and reaching kinematics while infants reached for a toy. Seventeen infants (4-6 months) were clustered into two groups according to their trunk control assessed with the Segmental Assessment of Trunk Control. Major differences were seen between groups with pelvic support, whereas with thoracic support, all infants showed similar quality reaching behaviors. With the external pelvic support, infants who had acquired trunk control in the lumbar region were more accurate in their reaching movements (less movement time, improved straightness of reach, less movement units and increased path length per movement unit) and were more stable (decreased trunk and head displacement) during a reach than infants who had only acquired trunk control in the thoracic region. These results support the hypothesis that trunk control influences the quality of reaching behavior.

Changes in torso muscle endurance profiles in children aged 7 to 14 years: reference values.

OBJECTIVE: To establish torso muscle endurance values in children aged 7 to 14 years, as well as ratios between torso extensors, flexors, and lateral torso flexors, with applications in clinical assessment, rehabilitation, physical education targets, and athletic training program designs. It was hypothesized that boys and girls mature differently in terms of torso muscle endurance. DESIGN: Measurements of torso muscle endurance were performed by using 4 tests in healthy children. SETTING: Elementary school in Novi Sad, Province of Vojvodina, Republic of Serbia. PARTICIPANTS: Children from 1 elementary school (N=753, n=394 boys and n=359 girls) were grouped into 8 age strata. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Four tests established isometric physical endurance: Biering-Sørensen test for extensor endurance, flexor endurance test, and right- and left-side bridge tests. The mean, ratio, standard deviation, and 25th, 50th, and 75th percentile scores were determined for each sex/age stratum. RESULTS: A 2-way analysis of variance indicated that girls had higher mean endurance times for torso extension and torso flexion than did boys. For example, times measured by using Biering-Sørensen and right-side bridge tests were significantly greater for girls than for boys across all age groups (P<.023). Boys can sustain the side torso test longer than can girls. Furthermore, 3-dimensional torso muscle endurance is under significant impact of age. Tukey Honestly Significant Difference post hoc tests confirmed that within and between sex exist significant differences in mean endurance times in all age strata at the significance level P=.05. CONCLUSION: Both age and sex influence differences in torso endurance in children aged 7 to 14 years. These data of endurance times, their ratios, and percentiles in healthy subjects form a database that may be useful for providing training and rehabilitation targets.

Cross- and triple-ratios of human body parts during development.

Recently developed landmark-based geometric morphometry has been used to depict the morphological development of organisms. In geometry, four landmarks can be mapped to any other four by Möbius transformations, if the cross-ratio of the landmarks is invariant and vice versa. To geometrically analyze the morphological development of the human body, we examined the cross-ratio of three consecutive body parts that are segmented by four landmarks in their configuration. Moreover, we introduced the triple-ratio of five landmarks that segments four consecutive parts (e.g., the shoulder, upper arm, forearm, and hand) and examined their growth patterns. The cross- and triple-ratios of the upper limb and shoulder girdle in fetuses were constant when biomechanical landmarks were used, although the cross-ratio of the upper limb varied when anatomical landmarks were used. The cross-ratios of the lower limbs, trunk, and pelvic girdles in fetuses differed from their corresponding cross-ratios in adults. These results suggest Möbius growth in the fetal upper limb and shoulder girdle but not in the other body parts examined. However, the growth balance of the three contiguous body parts was represented by the developmental change in the cross-ratio. Therefore, the cross- and triple-ratios may be applicable for simple but significant assessments of growth balance or proportion of the body parts.