Effect of Whole-body Vibration frequency on muscle tensile state during graded plantar flexor isometric contractions.

Background: Acute physiological and biomechanical alterations have been reported following whole-body vibration (WBV). Stiffening of muscles has only been anecdotally reported in response to WBV. Accordingly, this study investigated active plantar flexor muscle stiffness in response to a single WBV bout at four mechanical vibration frequencies. Methods: Thirteen healthy adults (37.1 ± 14.4 years old) randomly received WBV in 4 different frequencies (6, 12, 24, and 0 Hz control) for 5 min. Shear wave speed (SWS) in longitudinal and transverse projections, architecture, and electric muscle activity were recorded in the medial gastrocnemius (MG) and soleus (SOL) muscle during graded plantar flexor contraction. Subjective rating of perceived muscle stiffness was assessed via Likert-scale. Results: SWS of the MG at rest was enhanced in response to 5 min of 24 Hz WBV (p = 0.025), while a small reduction in SOL SWS was found during contraction (p = 0.005) in the longitudinal view. Subjective stiffness rating was increased following 12 Hz intervention. After 24 Hz WBV, pennation angle for MG was decreased (p = 0.011) during contraction. As a secondary finding, plantar flexor strength was significantly increased with each visit, which, however, did not affect the study's main outcome because of balanced sequence allocation. Conclusion: SWS effects were solely limited to 24 Hz mechanical vibration and in the longitudinal projection. The observed effects are compatible with an interpretation by post-activation potentiation, warm-up, and force-distribution within the triceps surae muscles following 5 min WBV. The outcome may suggest SWS as a useful tool for assessing acute changes in muscle stiffness.

Jumping Mechanography: Reference Centiles in Childhood and Introduction of the Nerve-Muscle Index to Quantify Motor Efficiency.

Jumping mechanography provides robust motor function indicators among children. The study aim was to develop centiles for the single 2-leg jump (S2LJ) in German children and adolescents and to identify differences in children with obesity. Data were collected in 2004-2021 through the German DOrtmund Nutritional and Anthropometric Longitudinally Designed (DONALD) study. All participants (6-18 years, mean age 11.4) performed annually an S2LJ aiming for maximum height on a Ground Reaction Force Platform. LMS (lambda-mu-sigma), including resampling, was used to develop centiles for velocity (vmax), jump height (hmax), relative force (Fmax/BW), relative power (Pmax/mass), impulse asymmetry and a new parameter to describe jump efficiency, the Nerve-Muscle Index (NMI), defined as vmax/(Fmax/BW). Data from 882 children and adolescents were analyzed (3062 measurements, median 3 per individual). In females, Fmax/BW values were higher in younger age but remained constant in adolescence. vmax, hmax and Pmax/mass increased in childhood, reaching a plateau in adolescence. In males, vmax, hmax and Pmax/mass showed a constant increase and the Fmax/BW remained lower. Children with obesity showed lower Fmax/BW, hmax, vmax and the NMI, hence, lower velocity per relative force unit and less efficient jump. The centiles should be used to monitor motor development in childhood. The NMI is a surrogate for motor efficiency.

Curvature of gastrocnemius muscle fascicles as function of muscle-tendon complex length and contraction in humans.

It has been shown that muscle fascicle curvature increases with increasing contraction level and decreasing muscle-tendon complex length. The analyses were done with limited examination windows concerning contraction level, muscle-tendon complex length, and/or intramuscular position of ultrasound imaging. With this study we aimed to investigate the correlation between fascicle arching and contraction, muscle-tendon complex length and their associated architectural parameters in gastrocnemius muscles to develop hypotheses concerning the fundamental mechanism of fascicle curving. Twelve participants were tested in five different positions (90°/105°*, 90°/90°*, 135°/90°*, 170°/90°*, and 170°/75°*; *knee/ankle angle). They performed isometric contractions at four different contraction levels (5%, 25%, 50%, and 75% of maximum voluntary contraction) in each position. Panoramic ultrasound images of gastrocnemius muscles were collected at rest and during constant contraction. Aponeuroses and fascicles were tracked in all ultrasound images and the parameters fascicle curvature, muscle-tendon complex strain, contraction level, pennation angle, fascicle length, fascicle strain, intramuscular position, sex and age group were analyzed by linear mixed effect models. Mean fascicle curvature of the medial gastrocnemius increased with contraction level (+5 m-1 from 0% to 100%; p = 0.006). Muscle-tendon complex length had no significant impact on mean fascicle curvature. Mean pennation angle (2.2 m-1 per 10°; p < 0.001), inverse mean fascicle length (20 m-1 per cm-1 ; p = 0.003), and mean fascicle strain (-0.07 m-1 per +10%; p = 0.004) correlated with mean fascicle curvature. Evidence has also been found for intermuscular, intramuscular, and sex-specific intramuscular differences of fascicle curving. Pennation angle and the inverse fascicle length show the highest predictive capacities for fascicle curving. Due to the strong correlations between pennation angle and fascicle curvature and the intramuscular pattern of curving we suggest for future studies to examine correlations between fascicle curvature and intramuscular fluid pressure.

Impaired Physical Performance in X-linked Hypophosphatemia Is not Caused by Depleted Muscular Phosphate Stores.

CONTEXT: X-linked hypophosphatemia (XLH) is a rare genetic disease, characterized by renal phosphate wasting and complex musculoskeletal manifestations including decreased physical performance. OBJECTIVE: To characterize muscular deficits in patients with XLH and investigate phosphate stores in muscles. METHODS: Case-control study (Muscle fatigability in X-linked Hypophosphatemia [MuXLiH]) with a 1-time assessment at the German Aerospace Center (DLR), Cologne, from May to December 2019, including patients with XLH cared for at the Osteology Department, University of Wuerzburg. Thirteen patients with XLH and 13 age/sex/body weight-matched controls aged 18-65 years were included. The main outcome measure was 31P-magnetic resonance spectroscopy (31P-MRS)-based assessment of phosphate metabolites in the soleus muscle at rest. Further analyses included magnetic resonance imaging-based muscle volume measurement, laboratory testing, isokinetic maximum voluntary contraction (MVC), fatigue testing, and jumping mechanography. RESULTS: By means of 31P-MRS, no significant differences were observed between XLH and controls regarding phosphate metabolites except for a slightly increased phosphocreatine to inorganic phosphate (PCr/Pi) ratio (XLH: 13.44 ± 3.22, control: 11.01 ± 2.62, P = .023). Quadriceps muscle volume was reduced in XLH (XLH: 812.1 ± 309.0 mL, control: 1391.1 ± 306.2 mv, P < .001). No significant differences were observed regarding isokinetic maximum torque (MVC) adjusted to quadriceps muscle volume. Jumping peak power and jump height were significantly reduced in XLH vs controls (both P < .001). CONCLUSION: The content of phosphoric compounds within the musculature of patients with XLH was not observed to be different from controls. Volume-adjusted muscle strength and fatiguability were not different either. Reduced physical performance in patients with XLH may result from long-term adaptation to reduced physical activity due to skeletal impairment.

Changes in cardiovascular risk factors among children and young adults with type 1 diabetes during the COVID-19 pandemic compared to previous years-Results from the German DPV registry.

BACKGROUND: The diverse stages of the COVID-19 pandemic led to several social circumstances that influenced daily life and health behavior. PURPOSE: To evaluate changes in cardiovascular risk factors and physical activity among children and young adults with type 1 diabetes (T1D) during the COVID-19 pandemic in Germany compared to previous years. METHODS: A total of 32 785 individuals aged 6-21 years at baseline with T1D from the German diabetes patient follow-up (DPV) registry contributed data on 101 484 person-years between 2016 and 2021. The first treatment year of each individual within this period was considered as baseline. Based on trends from 2016 to 2019, we estimated differences in body mass index-SD score (BMI-SDS), blood pressure (BP-SDS), and lipid levels (non-high-density lipoprotein [non-HDL]) between observed and predicted estimates for the years 2020 and 2021 using linear regression analysis standardized for age, diabetes duration, sex, and migratory background. The proportion doing organized sports and smoking cigarettes was analyzed using multivariable logistic regression models. RESULTS: BMI-SDS increased constantly from 2016 to 2021 without a significant increase above expected values for 2020/2021. Systolic BP-SDS (difference observed vs. expected with 95% confidence interval, 2020: 0.10 [0.07-0.14], 2021: 0.17 [0.14-0.20]) and non-HDL (2020: 2.7 [1.3-4.1] mg/dl, 2021: 4.1 [2.7-5.5] mg/dl) were significantly increased (all p < .001) in both pandemic years. The proportion of subjects participating in organized sports was reduced from over 70% in prepandemic years to 35%-65% in diverse stages/waves of the COVID-19 pandemic. The percentage smoking cigarettes did not change. CONCLUSIONS: We describe an increase in BP and atherogenic lipid levels coinciding with a reduction in physical activity but no acceleration of the prepandemic increases in BMI-SDS among young people with T1D during the COVID-19 pandemic.

Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study.

We assessed lower-limb geometry in adults with X-linked hypophosphatemia (XLH) and controls. We found large differences in multiple measures including femoral and tibial torsion, bowing and cross-sectional area and acetabular version and coverage which may contribute to clinical problems such as osteoarthritis, fractures and altered gait common in XLH. PURPOSE: Individuals with X-linked hypophosphatemia (XLH) are at risk of lower-limb deformities and early onset of osteoarthritis. These two factors may be linked, as altered biomechanics is a risk factor for osteoarthritis. This exploratory evaluation aims at providing clues and concepts for this association to facilitate future larger-scale and longitudinal studies on that aspect. METHODS: For this observational study, 13 patients with XLH, aged 18-65 years (6 female), were compared with sex-, age- and weight-matched healthy individuals at a single German research centre. Femoral and hip joint geometry, including femoral and tibial torsion and femoral and tibial shaft bowing, bone cross-sectional area (CSA) and acetabular version and coverage were measured from magnetic resonance imaging (MRI) scans. RESULTS: Total femoral torsion was 29° lower in individuals with XLH than in controls (p < 0.001), mainly resulting from lower intertrochanteric torsion (ITT) (p < 0.001). Femoral lateral and frontal bowing, tibial frontal bowing, mechanical axis, femoral mechanical-anatomical angle, acetabular version and acetabular coverage were all greater and tibial torsion lower in individuals with XLH as compared to controls (all p < 0.05). Greater femoral total and marrow cavity CSA, greater tibial marrow cavity CSA and lower cortical CSA were observed in XLH (all p < 0.05). DISCUSSION: We observed large differences in clinically relevant measures of tibia and particularly femur bone geometry in individuals with XLH compared to controls. These differences may plausibly contribute to clinical manifestations of XLH such as early-onset osteoarthritis, pseudofractures and altered gait and therefore should be considered when planning corrective surgeries.

Influence of motivational placebo-related factors on the effects of exercise treatment in depressive adolescents.

Recent meta-analyses reveal a moderate effect of physical activity (PA) in the treatment of adolescent depression. However, not only the underlying neurobiological mechanisms, also the influences of placebo-related motivational factors (beliefs and expectancies in sporting, enjoyment and prior sports experiences), are still unclear. Based on the data of our prior study "Mood Vibes", we hypothesized that placebo-inherent factors like positive prior sports experiences and motivational factors, (positive beliefs, expectancies, and enjoyment related to PA), would increase the effects of an add-on exercise-therapy in juvenile depression. From 64 included depressed adolescents, 41 underwent an intensive add-on PA-therapy. Motivational factors were assessed using sport-specific scales. The changes in depression scores under treatment were rated by self-rating scale (German "Childhood Depression Inventory", (DIKJ)). A mixed model for repeated measures (MMRM) was used to analyze the effects of the different motivational variates on DIKJ. While prior sports experiences had no impact, motivational factors showed a significant effect on PA-induced changes in DIKJ scores (p = 0.002). The demotivated participants improved less, whereas it was sufficient to be neutral towards sporting to benefit significantly more. Motivational placebo-related factors (beliefs, expectancies and enjoyment regarding PA) affected the outcomes of an exercise treatment in depressed adolescents. Yet, a neutral mindset was sufficient to profit more from PA. Prior sporting in the sense of positive conditioning and as a protective factor did not play a role. Knowledge about these influences could in a second step help to develop tailored therapies.

Longitudinal relationship of particulate matter and metabolic control and severe hypoglycaemia in children and adolescents with type 1 diabetes.

BACKGROUND: Evidence for the metabolic impact of long-term exposure to air pollution on diabetes is lacking. We investigated the association of particulate matter <10 µm (PM10) and <2.5 µm (PM2.5) with yearly averages of HbA1c, daily insulin dose (IU/kg) and rates of severe hypoglycaemia in type 1 diabetes (T1D). METHODS: We studied data of 44,383 individuals with T1D < 21 years which were documented in 377 German centres within the diabetes prospective follow-up registry (DPV) between 2009 and 2018. Outcomes were aggregated by year and by patient. PM10-and PM2.5-yearly averages prior to the respective treatment year were linked to individuals via the five-digit postcode areas of residency. Repeated measures linear and negative binomial regression were used to study the association between PM-quartiles (Q1 lowest, Q4 highest concentration) and yearly averages of HbA1c, daily insulin dose and rates of severe hypoglycaemia (confounders: sex, time-dependent age, age at diabetes onset, time-dependent type of treatment, migratory background, degree of urbanisation and socioeconomic index of deprivation). RESULTS: Adjusted mean HbA1c increased with PM10 (Q1: 7.96% [95%-CI: 7.95-7.98], Q4: 8.03% [8.02-8.05], p-value<0.001) and with PM2.5 (Q1: 7.97% [7.95-7.99], Q4: 8.02% [8.01-8.04], p < 0.001). Changes in daily insulin dose were inversely related to PM (PM10 and PM2.5: Q1 0.85 IU/kg [0.84-0.85], Q4: 0.83 IU/kg [0.82-0.83], p < 0.001). Adjusted rates of severe hypoglycaemia increased with PM-quartile groups (PM10 Q1:11.2 events/100 PY [10.9-11.5], PM10 Q4: 15.3 [14.9-15.7], p < 0.001; PM2.5 Q1: 9.9 events/100 PY [9.6-10.2], PM2.5 Q4: 14.2 [13.9-14.6], p < 0.001). DISCUSSION: Air pollution was associated with higher HbA1c levels and increased risk of severe hypoglycaemia in people with T1D, consequently indicating a higher risk of diabetes complications. Further studies are needed to explore causal pathways of the observed associations.

Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism - experiences from the DGKED/AQUAPE study group for quality improvement in Germany.

Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German and Austrian newborn screening. For both diseases, there are registries for quality improvement, based on standardized observational data from long-term patient follow-up, under the auspices of the DGKED study group. By September 2021, the CH registry HypoDOK includes datasets from 23,348 visits of 1,840 patients, and the CAH registry contains datasets from 36,237 visits of 1,976 patients. Here, we report on the recruitment process, patient characteristics, and research contributions from the registries, and underline that the registries are an important tool to improve patient care and outcomes. Registries for rare conditions should thus be considered as an important public health measure and they should be adequately institutionalized and funded.

Differential effects of ergometer-cycling and Whole-Body-Vibration training on serological BDNF and IGF-1 in the treatment of adolescent depression - is there an impact of BDNFp.Val66Met variants?

BACKGROUND: Pathogenesis and treatment of adolescent depression may be influenced by growth-factors, including brain-derived neurotrophic factor (BDNF) and insulin-like growth factor 1 (IGF-1). We investigated, if treatment response to two different add-on exercise-therapies in juvenile depression, differ in the changes of BDNF and IGF-1 serology. A subgroup analysis for genetic variations in BDNF p.Val66Met-variants was added. METHODS: Included subjects in the study (N = 64), aged 13 to 17 years, were diagnosed with major depression, controls received inpatient treatment as usual (TAU). Intervention groups performed as add-on to TAU two different forms of exercise-therapy: endurance ergometer cycling (EC) and muscle strengthening whole body vibration (WBV). We expected both exercise-forms to increase BDNF and IGF-1 serology and by this pathway to improve depression scores significantly stronger than the control group. RESULTS: None of the experimental groups showed significant changes in BDNF between measurement time points. However, after 6 weeks exercise, BDNF of both intervention groups were significantly higher compared to TAU,. The IGF-1 increase after 6 weeks intervention was significant for EC only. No correlations of BDNF and IGF-1 to depression scores were found. Group analysis in BDNF p.Val66Met variants showed a trend for better response in depression scores to exercise-treatment for the Val66Val group. LIMITATIONS: A small sample size, the non-randomized controls and the neglect of psychosocial factors have to be considered as limitations. CONCLUSIONS: Endurance and muscle strengthening trainings seem to influence serological BDNF and IGF-1 differentially. However, the changes in growth factors did not correlate to the decreases in depression scores. BDNF p.Val66Val variant seems to be more receptive for exercise treatment. Identifying biomarkers (growth factors, genetic variants) in adolescent depression could help to develop tailored treatment strategies.

Effects of long-term immobilisation on endomysium of the soleus muscle in humans.

NEW FINDINGS: What is the central question of this study? While muscle fibre atrophy in response to immobilisation has been extensively examined, intramuscular connective tissue, particularly endomysium, has been largely neglected: does endomysium content of the soleus muscle increase during bed rest? What is the main finding and its importance? Absolute endomysium content did not change, and previous studies reporting an increase are explicable by muscle fibre atrophy. It must be expected that even a relative connective tissue accumulation will lead to an increase in muscle stiffness. ABSTRACT: Muscle fibres atrophy during conditions of disuse. Whilst animal data suggest an increase in endomysium content with disuse, that information is not available for humans. We hypothesised that endomysium content increases during immobilisation. To test this hypothesis, biopsy samples of the soleus muscle obtained from 21 volunteers who underwent 60 days of bed rest were analysed using immunofluorescence-labelled laminin γ-1 to delineate individual muscle fibres as well as the endomysium space. The endomysium-to-fibre-area ratio (EFAr, as a percentage) was assessed as a measure related to stiffness, and the endomysium-to-fibre-number ratio (EFNr) was calculated to determine whether any increase in EFAr was absolute, or could be attributed to muscle fibre shrinkage. As expected, we found muscle fibre atrophy (P = 0.0031) that amounted to shrinkage by 16.6% (SD 28.2%) on day 55 of bed rest. ENAr increased on day 55 of bed rest (P < 0.001). However, when analysing EFNr, no effect of bed rest was found (P = 0.62). These results demonstrate that an increase in EFAr is likely to be a direct effect of muscle fibre atrophy. Based on the assumption that the total number of muscle fibres remains unchanged during 55 days of bed rest, this implies that the absolute amount of connective tissue in the soleus muscle remained unchanged. The increased relative endomysium content, however, could be functionally related to an increase in muscle stiffness.

Immunological Effects of an Add-On Physical Exercise Therapy in Depressed Adolescents and Its Interplay with Depression Severity.

BACKGROUND: Pro-inflammatory cytokines (PICs) have gained attention in the pathophysiology and treatment of depressive disorders. At the same time, the therapeutic effect of physical activity seems to work via immunomodulatory pathways. The interventional study "Mood Vibes" analyzed the influence of exercise on depression severity (primary endpoint) in depressive adolescents; the influence of PICs on the clinical outcome was analyzed as a secondary endpoint. METHODS: Clinically diagnosed depressed adolescents (N = 64; 28.1% male; mean age = 15.9; mean BMI = 24.6) were included and participated either in Whole Body Vibration (WBV) (n = 21) or bicycle ergometer training (n = 20) in addition to treatment-as-usual (TAU). Patients in the control treatment group received TAU only (n = 23). The PICs (interleukin-6-IL-6 and tumor necrosis factor-α-TNF-α) were analyzed before intervention, after 6 weeks of training (t1), and 8 weeks post-intervention (t2). The effects of the treatment on depression severity were rated by self-rating "Depression Inventory for Children and Adolescents" (DIKJ). RESULTS: Basal IL-6 decreased in all groups from t0 to t1, but it increased again in WBV and controls at t2. TNF-α diminished in ergometer and controls from baseline to t1. PIC levels showed no correlation with depression severity at baseline. The influence on DIKJ scores over time was significant for IL-6 in the WBV group (p = 0.008). Sex had an impact on TNF-α (p < 0.001), with higher concentrations in male patients. Higher body mass index was associated with higher IL-6 concentrations over all measurement points (p < 0.001). CONCLUSIONS: The positive effects of an intensive add-on exercise therapy on adolescent depression seem to be partly influenced by immunomodulation. A small sample size and non-randomized controls are limitations of this study.

Effects of Lee Silverman Voice Treatment BIG and conventional physiotherapy on non-motor and motor symptoms in Parkinson's disease: a randomized controlled study comparing three exercise models.

BACKGROUND: Parkinson's disease (PD) patients experience disabling motor dysfunctions as well as non-motor symptoms (NMSs) that can highly impact their perceived quality of life. Besides pharmacological treatment options, active intervention programs have set some attention in managing these symptoms. However, previous studies mainly assessed the effectiveness of active intervention programs on functional mobility and motor symptoms. OBJECTIVE: This study aimed to investigate the effect of Lee Silverman Voice Treatment (LSVT) BIG, an intensified and personalized physiotherapy (INTENSIVE), and a conventional physiotherapy (NORMAL) on NMSs in PD. METHOD: Forty-four patients with mild to moderate PD were randomly assigned to one of the three treatment groups. LSVT BIG and INTENSIVE were delivered one-on-one in 16 1-hour sessions within 4 weeks (4×/week). Patients assigned to NORMAL received 16 individual 1-hour sessions within 8 weeks (2×/week). The primary outcome measure was the difference in change from baseline in the non-motor symptom assessment scale for Parkinson's disease (NMSS) between treatment groups to follow up at week 8. Patients were blinded for the NMSS being the primary outcome, but not the different treatment groups. RESULTS: ANCOVA (Analysis of Covariance) showed reduced NMSS scores for all groups, with INTENSIVE being superior to NORMAL (p = 0.033). For secondary outcome measures (stride length, gait velocity and chair rising test) LSVT BIG and INTENSIVE were both superior to NORMAL. CONCLUSIONS: The study provides evidence that all three exercise programs are effective techniques to improve NMSs as well as motor function in PD. DRKS REGISTRATION NUMBER: DRKS00008732.

Pharmacotherapy in Rare Skeletal Diseases.

New therapeutic approaches have been established in the field of rare skeletal diseases (e.g., for osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia, and fibrodysplasia ossificans progressiva). After elucidation of the underlying genotypes and pathophysiologic alterations of these diseases, new treatment options have been designed. Most drugs are based on an interaction with the disease-specific cascade of enzymes and proteins involved in the disease. Thereby an approved treatment is available for children with severe forms of hypophosphatasia and hypophosphatemic rickets (asfotase alfa, burosumab). Additionally, there are different phase 3 trials ongoing assessing the efficacy and safety of drugs for osteogenesis imperfecta, achondroplasia, and fibrodysplasia ossificans progressiva (denosumab, vosoritide, palovarotene).Because all these diseases are rare, the number of investigated patients in the trials is small, and the knowledge about rare side effects and long-term outcome is limited. Therefore it is recommended to treat the patients in specialized centers where the effects of the drugs can be evaluated and data about safety, side effects, and efficacy can be collected.Based on the fact that most drugs for rare diseases are highly expensive clear indications for start of a treatment, evaluation of the therapy and recommendations how long a treatment has to be administrated are urgently needed.

Reliability of a radiation-free, noninvasive and computer-assisted assessment of the spine in children with cerebral palsy.

PURPOSE: The radiation-free, noninvasive and computer-assisted Spinal Mouse® (SM) is a reliable and valid measuring instrument for functional analysis of the pediatric spine. The aim of this study was to examine the intra-rater reliability of the SM measurements in children with cerebral palsy (CP) and to investigate differences after a 1 week of the rehabilitation program. METHODS: A total of 168 SM investigations in the sagittal plane and frontal plane at three measurement times from a sample of 28 children (n = 10 girls, age 9.7 ± 3.1 years) with CP were eligible for evaluation. For the verification of reliability, the measurement results from the first and second measurement times (t1, t2) were used at intervals of 1 day. In addition, differences after the rehabilitation program the patients underwent (t3) were evaluated using the measurement results of the first and third measurements (5-day interval). RESULTS: The results show good to excellent intra-rater reliability for the SM measurements, both in the sagittal and in the frontal plane (ICC values = 0.69-0.99). Furthermore, significant changes may occur after only 1 week of therapeutic intervention for total spinal inclination (t1: 12.82 ± 5.40, t3: 11.11 ± 5.60, p = 0.014, Cohen's d = 0.43) and spine length (t1: 401.75 ± 69.05, t3: 409.25 ± 63.58, p = 0.030, Cohen's d = 0.43). CONCLUSIONS: SM can be used to generate reliable values for functional analysis of the spine in children with CP. Furthermore, significant posture differences can be demonstrated by therapeutic interventions, especially in the spine inclination (Inc) and spine length (SL). These slides can be retrieved under Electronic Supplementary Material.

Reference Centiles for the Evaluation of Nutritional Status in Children using Body Fat Percentage, Fat Mass and Lean Body Mass Index.

BACKGROUND: Body fat percentage (BF%), fat mass index (FMI), and lean body mass index (LBMI) are often used to evaluate the nutritional status of children. Until now, no pediatric FMI reference centiles are applicable for GE Healthcare Lunar DXA systems. The aim of the study was to generate age-specific BF%, FMI, and LBMI references centiles for GE Healthcare Lunar DXA systems. METHODOLOGY: Published values from the National Health and Nutrition Examination Survey 1999-2004 (age 8-20 years) were used to generate the reference centiles for the non-Hispanic black, non-Hispanic white, and Mexican American NHANES population. The LMS and LMSP methods were used to generate the reference centiles. RESULTS: Data of 2433 non-Hispanic black children (972 females), 2026 non-Hispanic white children (873 females), and 2547 Mexican American children (1010 females) were eligible. CONCLUSIONS: We presented age-specific reference centiles for BF%, FMI, and LBMI for children and adolescents which were ethnicity specific (non-Hispanic black, non-Hispanic white, and Mexican American) and directly applicable to Prodigy and iDXA GE Healthcare Lunar systems with software version 14.0. We proposed the use of BF%, FMI, and LBMI together to evaluate nutritional status in children.

Motor Function Improvement in Children with Ataxia Receiving Interval Rehabilitation, Including Vibration-Assisted Hometraining: A Retrospective Study.

BACKGROUND: Physiotherapy, including vibration-assisted therapy, has been proven to be effective for patients with ataxic cerebral palsy. Herewith, we studied the effect of a functional, goal-oriented interval rehabilitation program, including vibration-assisted home-training on the motor function of children with congenital ataxias. PATIENTS: 45 children (mean age 7.7 years, SD 4.70) with ataxia, having received a 6-month home-based side-alternating vibration-assisted therapy combined with intensive, goal-oriented, functional rehabilitation intervals, were included in the study, classified according to the progressive or non-progressive ataxia character. METHOD: Retrospective analysis of the prospectively collected data of the registry of the Cologne rehabilitation program "Auf die Beine". Motor abilities have been assessed prior to the intervention (M0), after 6 months of home-training (M6) as well as in a follow-up 6 months later (M12). We performed a gait analysis, a 1-minute walking test (1-MWT), and the Gross Motor Function Measure (GMFM-66). RESULTS: The GMFM-66 improvement (M6-M0 vs. M12-M6) was statistically significant with median improvement of 2.4 points (non-progressive) and 2.9 points (progressive) respectively, and clinically relevant. The 1-MWT improvement was statistically significant and clinically relevant for non-progressive ataxia. CONCLUSION: The intensive training, including vibration-assisted therapy significantly improved the motor function of children with ataxia. Six months later the skills were preserved in children with progressive ataxia and could be further developed in non-progressive forms.

Quality of Life of Short-Statured Children Born Small for Gestational Age or Idiopathic Growth Hormone Deficiency Within 1 Year of Growth Hormone Treatment.

Aside from clinical endpoints like height gain, health-related quality of life has also become an important outcome indicator in the medical field. However, the data on short stature and health-related quality of life is inconsistent. Therefore, we examined changes in health-related quality of life in German children with idiopathic growth hormone deficiency or children born small for gestational age before and after 12 months of human growth hormone treatment. Children with idiopathic short stature without treatment served as a comparison group. At baseline, health-related quality of life data of 154 patients with idiopathic growth hormone deficiency (n = 65), born small for gestational age (n = 58), and idiopathic short stature (n = 31) and one parent each was collected. Of these, 130 completed health-related quality of life assessments after 1-year of human growth hormone treatment. Outcome measures included the Quality of Life in Short Stature Youth questionnaire, as well as clinical and sociodemographic data. Our results showed that the physical, social, and emotional health-related quality of life of children treated with human growth hormone significantly increased, while untreated patients with idiopathic short stature reported a decrease in these domains. Along with this, a statistically significant increase in height in the treated group can be observed, while the slight increase in the untreated group was not significant. In conclusion, the results showed that human growth hormone treatment may have a positive effect not only on height but also in improving patient-reported health-related quality of life of children with idiopathic growth hormone deficiency and children born small for gestational age.

Glucocorticoids and Body Fat Inversely Associate With Bone Marrow Density of the Distal Radius in Healthy Youths.

CONTEXT: Elevated bone marrow adipose tissue (BMAT) is associated with lower bone quality, higher fracture rates, and an unfavorable overall metabolic profile. Apart from age, particularly glucocorticoids (GC), body fat, and diet are discussed to influence BMAT. We hypothesized that already in healthy youths, higher fat intake, higher fat mass index (FMI), and higher GC secretion, still within the normal range, may associate with increased BMAT. DESIGN: In a subsample of healthy 6- to 18-year-old participants of the Dortmund Nutritional and Anthropometric Longitudinally Designed Study, peripheral quantitative CT of the nondominant proximal forearm was used to determine bone marrow density of the distal radius as an inverse surrogate parameter for BMAT. In those participants (n = 172) who had collected two, 24-hour urines within around one year before bone measurement, major urinary GC metabolites were measured by gas chromatography-mass spectrometry and summed up to assess daily adrenal GC secretion (ΣC21). Dietary intake was assessed by 3-day weighed dietary records. FMI was anthropometrically calculated. Separate multiple linear regression models were used to analyze the relationships of ΣC21, FMI, and fat intake with BMAT. RESULTS: After controlling for confounders, such as age, energy intake, and forearm muscle area, ΣC21 (ß = -0.042) and FMI (ß = -0.002) showed inverse relationships with bone marrow density (P < 0.05), whereas fat intake did not associate significantly. CONCLUSION: Our results indicate that already a moderately elevated GC secretion and higher body fatness during adolescence may adversely impact BMAT, an indicator for long-term bone health.

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.

Congenital adrenal hyperplasia (CAH) due to CYP21A2 gene mutations is associated with a variety of clinical phenotypes (salt wasting, SW; simple virilizing, SV; nonclassical, NC) depending on residual 21-hydroxylase activity. Phenotypes and genotypes correlate well in 80-90% of cases. We set out to test the predictive value of CAH phenotype assignment based on genotype classification in a large multicenter cohort. A retrospective evaluation of genetic data from 538 CAH patients (195 screened) collected from 28 tertiary centers as part of a German quality control program was performed. Genotypes were classified according to residual 21-hydroxylase activity (null, A, B, C) and assigned clinical phenotypes correlated with predicted phenotypes, including analysis of Prader stages. Ultimately, concordance of genotypes with clinical phenotypes was compared in patients diagnosed before or after the introduction of nationwide CAH-newborn screening. Severe genotypes (null and A) correlated well with the expected phenotype (SW in 97 and 91%, respectively), whereas less severe genotypes (B and C) correlated poorly (SV in 45% and NC in 57%, respectively). This was underlined by a high degree of virilization in girls with C genotypes (Prader stage >1 in 28%). SW was diagnosed in 90% of screening-positive babies with classical CAH compared with 74% of prescreening patients. In our CAH series, assigned phenotypes were more severe than expected in milder genotypes and in screened vs prescreening patients. Diagnostic discrimination between phenotypes based on genotypes may prove overcome due to the overlap in their clinical presentations.