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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.
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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.
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Raquitismo Hipofosfatêmico Familiar , Osteoartrite , Adulto , Raquitismo Hipofosfatêmico Familiar/complicações , Raquitismo Hipofosfatêmico Familiar/patologia , Feminino , Fêmur/patologia , Humanos , Extremidade Inferior , Tíbia/diagnóstico por imagem , Tíbia/patologiaRESUMO
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.
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Poluentes Atmosféricos , Diabetes Mellitus Tipo 1 , Hipoglicemia , Adolescente , Poluentes Atmosféricos/análise , Poluentes Atmosféricos/toxicidade , Criança , Diabetes Mellitus Tipo 1/induzido quimicamente , Diabetes Mellitus Tipo 1/epidemiologia , Humanos , Hipoglicemia/induzido quimicamente , Hipoglicemia/epidemiologia , Material Particulado/análise , Material Particulado/toxicidade , Estudos ProspectivosRESUMO
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.
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Exercício Físico , Esportes , Adolescente , Afeto , Criança , Terapia por Exercício , Humanos , MotivaçãoRESUMO
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.
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Fibras Musculares Esqueléticas , Músculo Esquelético , Animais , Repouso em Cama , Humanos , Fibras Musculares Esqueléticas/fisiologia , Músculo Esquelético/patologia , MiocárdioRESUMO
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.
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Tecido Adiposo , Composição Corporal , Índice de Massa Corporal , Estado Nutricional , Absorciometria de Fóton , Adolescente , Negro ou Afro-Americano , Criança , Feminino , Humanos , Masculino , Americanos Mexicanos , Inquéritos Nutricionais , Valores de Referência , População Branca , Adulto JovemRESUMO
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.
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Hipofosfatasia , Miosite Ossificante , Criança , Humanos , Doenças Raras/fisiopatologiaRESUMO
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.
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Paralisia Cerebral , Animais , Criança , Computadores , Humanos , Camundongos , Variações Dependentes do Observador , Postura , Reprodutibilidade dos Testes , Coluna VertebralRESUMO
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.
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Ataxia/reabilitação , Paralisia Cerebral/reabilitação , Modalidades de Fisioterapia , Vibração/uso terapêutico , Criança , Feminino , Humanos , Masculino , Destreza Motora , Estudos Retrospectivos , Resultado do TratamentoRESUMO
There is growing evidence for the effectiveness of exercise in the treatment of adult major depression. With regard to adolescents, clinical trials are scarce. Due to the inherent symptoms of depression (lack of energy, low motivation to exercise), endurance training forms could be too demanding especially in the first weeks of treatment. We hypothesized that an easy-to-perform passive muscular training on a whole body vibration (WBV) device has equal anti-depressive effects compared to a cardiovascular training, both administered as add-ons to treatment as usual (TAU). Secondly, we presumed that both exercise interventions would be superior in their response, compared to TAU. In 2 years 64 medication-naïve depressed inpatients aged 13-18, were included. Both exercise groups fulfilled a supervised vigorous training for 6 weeks. Depressive symptoms were assessed by self-report ("Depressions Inventar für Kinder und Jugendliche"-DIKJ) before intervention and after weeks 6, 14 and 26. Compared to TAU, both groups responded earlier and more strongly measured by DIKJ scores, showing a trend for the WBV group after week 6 (p = 0.082). The decrease became statistically significant for both intervention groups after week 26 (p = 0.037 for ergometer and p = 0.042 for WBV). Remission rates amounted to 39.7% after week 6 and 66% after week 26, compared to 25% after week 26 in TAU. These results provide qualified support for the effectiveness of exercise as add-on treatment for medication-naïve depressed adolescents. The present results are limited by the not randomized control group.
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Depressão/terapia , Exercício Físico/psicologia , Vibração/uso terapêutico , Adolescente , Criança , Feminino , Humanos , Pacientes Internados , MasculinoRESUMO
Bone disease in patients with phenylketonuria (PKU) is incompletely characterized. We therefore analyzed, in a cross-sectional study radius macroscopic bone architecture and forearm muscle size by peripheral quantitative computed tomography (pQCT) and muscle strength by hand dynamometry in a large cohort (n = 56) of adolescent and adult patients with PKU aged 26.0 ± 8.9 (range, 11.8-41.5) years. Data were compared with a reference population (n = 700) from the DONALD study using identical methodology. We observed a significant reduction of cortical thickness (z-score -1.01 ± 0.79), Strength-Strain Index (SSI) (z-score -0.81 ± 1.03), and total bone mineral density (BMD) of the distal radius (z-score -1.05 ± 1.00). Mean muscle cross-sectional area (z-score -0.98 ± 1.19) and muscle grip force (z-score -0.64 ± 1.26) were also significantly reduced, indicating an impaired muscular system as part of the clinical phenotype of PKU. SSI positively correlated (r = 0.53, P < 0.001) with the corresponding muscle cross-sectional area in the reference population; however, the regression line slope in PKU patients was less steep (P < 0.001), indicating that bone strength is not adequately adapted to muscle force. In conclusion, the radial bone in PKU patients is characterized by reduced bone strength in relation to muscular force, decreased cortical thickness, and impaired total BMD at the metaphyseal site. These alterations indicate a mixed bone defect in PKU, both of which are due to primary alterations of bone metabolism and to secondary alterations in response to neuromuscular abnormalities.
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Osso e Ossos/fisiopatologia , Antebraço/fisiopatologia , Músculo Esquelético/fisiopatologia , Fenilcetonúrias/fisiopatologia , Adolescente , Adulto , Densidade Óssea/fisiologia , Criança , Estudos Transversais , Feminino , Força da Mão/fisiologia , Humanos , Masculino , Força Muscular/fisiologia , Estudos Prospectivos , Rádio (Anatomia)/fisiopatologia , Tomografia Computadorizada por Raios X/métodos , Adulto JovemRESUMO
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis imperfecta, a congenital disorder characterized by reduced bone mass and recurrent fractures. In consanguineous families, we identified five homozygous mutations in WNT1: one frameshift mutation, two missense mutations, one splice-site mutation, and one nonsense mutation. In addition, in a family affected by dominantly inherited early-onset osteoporosis, a heterozygous WNT1 missense mutation was identified in affected individuals. Initial functional analysis revealed that altered WNT1 proteins fail to activate canonical LRP5-mediated WNT-regulated ß-catenin signaling. Furthermore, osteoblasts cultured in vitro showed enhanced Wnt1 expression with advancing differentiation, indicating a role of WNT1 in osteoblast function and bone development. Our finding that homozygous and heterozygous variants in WNT1 predispose to low-bone-mass phenotypes might advance the development of more effective therapeutic strategies for congenital forms of bone fragility, as well as for common forms of age-related osteoporosis.
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Densidade Óssea/genética , Osso e Ossos/patologia , Mutação/genética , Osteogênese Imperfeita/genética , Osteoporose/genética , Proteína Wnt1/genética , Animais , Sequência de Bases , Células Cultivadas , Criança , Pré-Escolar , Feminino , Heterozigoto , Humanos , Recém-Nascido , Proteínas Relacionadas a Receptor de LDL/genética , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Dados de Sequência Molecular , Osteoblastos/metabolismo , Osteoblastos/patologia , Osteogênese Imperfeita/patologia , Osteoporose/patologia , Linhagem , Fenótipo , GravidezRESUMO
Bone morphogenetic protein 1 (BMP1) is an astacin metalloprotease with important cellular functions and diverse substrates, including extracellular-matrix proteins and antagonists of some TGFß superfamily members. Combining whole-exome sequencing and filtering for homozygous stretches of identified variants, we found a homozygous causative BMP1 mutation, c.34G>C, in a consanguineous family affected by increased bone mineral density and multiple recurrent fractures. The mutation is located within the BMP1 signal peptide and leads to impaired secretion and an alteration in posttranslational modification. We also characterize a zebrafish bone mutant harboring lesions in bmp1a, demonstrating conservation of BMP1 function in osteogenesis across species. Genetic, biochemical, and histological analyses of this mutant and a comparison to a second, similar locus reveal that Bmp1a is critically required for mature-collagen generation, downstream of osteoblast maturation, in bone. We thus define the molecular and cellular bases of BMP1-dependent osteogenesis and show the importance of this protein for bone formation and stability.
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Proteína Morfogenética Óssea 1/fisiologia , Osteogênese/genética , Osteogênese/fisiologia , Animais , Sequência de Bases , Conservadores da Densidade Óssea/uso terapêutico , Proteína Morfogenética Óssea 1/genética , Proteína Morfogenética Óssea 1/metabolismo , Osso e Ossos/metabolismo , Diferenciação Celular , Pré-Escolar , Colágeno/biossíntese , Difosfonatos/uso terapêutico , Exoma , Feminino , Fraturas Ósseas/tratamento farmacológico , Fraturas Ósseas/prevenção & controle , Loci Gênicos , Proteínas de Choque Térmico , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Osteoblastos/efeitos dos fármacos , Osteoblastos/fisiologia , Osteogênese/efeitos dos fármacos , Fragmentos de Peptídeos , Processamento de Proteína Pós-Traducional , Peixe-Zebra/genética , Peixe-Zebra/metabolismoRESUMO
Botulinum toxin A (BTX)-induced muscle paralysis results in pronounced bone degradation with substantial bone loss. We hypothesized that whole-body vibration (WBV) and insulin-like growth factor-I (IGF-I) treatment can counteract paralysis-induced bone degradation following BTX injections by activation of the protein kinase B (Akt) signaling pathway. Female C57BL/6 mice (n = 60, 16 weeks) were assigned into six groups (n = 10 each): SHAM, BTX, BTX+WBV, BTX+IGF-I, BTX+WBV+IGF-I, and a baseline group, which was killed at the beginning of the study. Mice received a BTX (1.0 U/0.1 mL) or saline (SHAM) injection in the right hind limb. The BTX+IGF-I and BTX+WBV+IGF-I groups obtained daily subcutaneous injections of human IGF-I (1 µg/day). The BTX+WBV and BTX+WBV+IGF-I groups underwent WBV (25 Hz, 2.1 g, 0.83 mm) for 30 min/day, 5 days/week for 4 weeks. Femora were scanned by pQCT, and mechanical properties were determined. On tibial sections TRAP staining, static histomorphometry, and immunohistochemical staining against Akt, phospho-Akt, IGF-IR (IGF-I receptor), and phospho-IGF-IR were conducted. BTX injection decreased trabecular and cortical bone mineral density. The WBV and WBV+IGF-I groups showed no difference in trabecular bone mineral density compared to the SHAM group. The phospho-IGF-IR and phospho-Akt stainings were not differentially altered in the injected hind limbs between groups. We found that high-frequency, low-magnitude WBV can counteract paralysis-induced bone loss following BTX injections, while we could not detect any effect of treatment with IGF-I.
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Toxinas Botulínicas/efeitos adversos , Fator de Crescimento Insulin-Like I/farmacologia , Atrofia Muscular/fisiopatologia , Vibração , Animais , Índice de Massa Corporal , Densidade Óssea , Osso e Ossos/fisiopatologia , Feminino , Marcha , Humanos , Imuno-Histoquímica , Camundongos , Camundongos Endogâmicos C57BL , Atrofia Muscular/induzido quimicamente , Proteínas Proto-Oncogênicas c-akt/metabolismo , Proteínas Recombinantes/farmacologia , Transdução de Sinais , Estresse Mecânico , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Pharmacological treatment of dyskinetic cerebral palsy (CP) is often ineffective. Data about outcome of deep brain stimulation (DBS) in these patients remains scarce. METHODS: Eight patients with dyskinetic CP and DBS of the Globus Pallidus internus were investigated. Using pre- and postoperative videos the severity of dystonia and changes thereof during standardized settings ('on') and after the stimulator had been switched off ('off') were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Furthermore, subjective impression (SI) of the extent of postoperative change as well as gait (Leonardo Mechanograph® Gangway), speech (Frenchay Dysarthria) and swallowing performances (fiberoptic laryngoscopy) were assessed during 'on' and 'off'. RESULTS: When comparing pre- and postoperative as well as 'on' and 'off', the BFMDRS and most of the gait, speech, and swallowing parameters did not differ significantly. In contrast, patients reported significant improvement of their SI postoperatively (3.1 on a 10-point-scale). CONCLUSION: Data show that our CP-patients did not benefit from GPi-DBS when tested formally for dystonia, gait, speech and swallowing. In stark contrast, these patients reported significant subjective improvement. Taken together, and in light of current unsatisfactory medical treatment options, our data suggest that further assessment of the effects of GPi-DBS in dyskinetic CP is warranted.
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Paralisia Cerebral/terapia , Estimulação Encefálica Profunda , Deglutição , Discinesias/terapia , Marcha , Fala , Adulto , Paralisia Cerebral/patologia , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/psicologia , Deglutição/fisiologia , Discinesias/patologia , Discinesias/fisiopatologia , Discinesias/psicologia , Feminino , Tecnologia de Fibra Óptica , Marcha/fisiologia , Globo Pálido/patologia , Globo Pálido/fisiopatologia , Humanos , Laringoscopia , Imageamento por Ressonância Magnética , Masculino , Índice de Gravidade de Doença , Fala/fisiologia , Resultado do Tratamento , Gravação em Vídeo , Adulto JovemRESUMO
PURPOSE: During vibration of the whole unloaded lower leg, effects on capillary blood content and blood oxygenation were measured in the calf muscle. The hypotheses predicted extrusion of venous blood by a tonic reflex contraction and that reactive hyperaemia could be observed after vibration. METHODS: Twelve male subjects sat in front of a vibration platform with their right foot affixed to the platform. In four intervals of 3-min duration vibration was applied with a peak-to-peak displacement of 5 mm at frequencies 15 or 25 Hz, and two foot positions, respectively. Near infrared spectroscopy was used for measuring haemoglobin oxygen saturation (SmO2) and the concentration of total haemoglobin (tHb) in the medial gastrocnemius muscle. RESULTS: Within 30 s of vibration SmO2 increased from 55 ± 1 to 66 ± 1 % (mean ± SE). Within 1.5 min afterwards SmO2 decreased to a steady state (62 ± 1 %). During the following 3 min of recovery SmO2 slowly decreased back to base line. THb decreased within the first 30 s of vibration, remained almost constant until the end of vibration, and slowly recovered to baseline afterwards. No significant differences were found for the two vibration frequencies and the two foot positions. CONCLUSIONS: The relaxed and unloaded calf muscles did not respond to vibration with a remarkable reflex contraction. The acceleration by vibration apparently ejected capillary venous blood from the muscle. Subsequent recovery did not match with a reactive hyperaemia indicating that the mere mechanical stress did not cause vasodilation.
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Perna (Membro)/fisiologia , Músculo Esquelético/fisiologia , Fluxo Sanguíneo Regional , Vasodilatação , Vibração , Adulto , Capilares/fisiologia , Estudos de Casos e Controles , Humanos , Contração Isométrica , Perna (Membro)/irrigação sanguínea , Masculino , Músculo Esquelético/irrigação sanguínea , Oxigênio/sangue , Consumo de Oxigênio , Reflexo , Veias/fisiologiaRESUMO
Nutritive and bioactive components of human milk could be involved in programming metabolic systems that affect bone growth throughout the life course. Bone properties in childhood and adolescence might differ, depending on breastfeeding duration. Thus, breastfeeding could be a relevant factor in the context of primary osteoporosis prevention. The prospective association between breastfeeding duration and bone properties was investigated using the data of 284 participants of the Dortmund Nutritional and Anthropometric Longitudinally Designed Study. Breastfeeding duration was assessed during infancy. Bone properties were measured by peripheral quantitative computed tomography (pQCT) at ages 5-23 years. Cortical volumetric bone mineral density, cortical bone mineral content, strength strain index, total cross-sectional area of the bone and cross-sectional area of the cortical bone were determined at the 65% site of the radius. Linear regression analyses were performed to check for differences in pQCT parameters of subjects who had not or shortly been breastfed (0-16 weeks) and subjects who had been breastfed for a long duration (≥17 weeks). Multivariable models adjusted for age, gender, forearm length, muscle cross-sectional area, body mass index standard deviation score (SDS), height SDS and socio-economic status did not yield associations between breastfeeding duration and pQCT parameters. These findings suggest neither protective nor adverse effects of prolonged breastfeeding on bone health in childhood and adolescence. Influences of early nutrition on bone growth might be overridden by current effects of mechanical loads on bone physiology.
Assuntos
Densidade Óssea , Aleitamento Materno , Rádio (Anatomia)/fisiologia , Adolescente , Estatura , Índice de Massa Corporal , Peso Corporal , Criança , Pré-Escolar , Feminino , Humanos , Modelos Lineares , Estudos Longitudinais , Masculino , Leite Humano/química , Análise Multivariada , Osteoporose/prevenção & controle , Estudos Prospectivos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
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.
RESUMO
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.
Assuntos
Raquitismo Hipofosfatêmico Familiar , Hipofosfatemia , Humanos , Raquitismo Hipofosfatêmico Familiar/genética , Fosfatos , Estudos de Casos e Controles , Músculo Esquelético/diagnóstico por imagem , Exercício FísicoRESUMO
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.