Assessment of regional body composition with dual‐energy X‐ray absorptiometry in Duchenne muscular dystrophy: Correlation of regional lean mass and quantitative strength

The purpose of this study was to assess regional body composition and its correlation with regional strength in Duchenne muscular dystrophy (DMD) subjects and able‐bodied controls. Regional dual‐energy X‐ray absorptiometry (DEXA) measurements and isometric strength were obtained for 23 DMD subjects and 23 control subjects. DMD subjects showed a decreased regional lean mass (P < 0.001). The correlation between regional strength and regional lean mass was stronger for controls than for DMD subjects. DMD subjects had decreased regional lean mass, increased regional fat mass, and decreased strength. Muscle Nerve 39: 647–651, 2009     

Regional body composition and functional impairment in patients with myotonic dystrophy

Introduction: In this study we determined regional body composition in myotonic dystrophy (DM1) and able‐bodied controls and evaluated the relationship between fat and lean tissue mass and functional impairment in DM1 patients. Methods: Dual‐energy X‐ray absorptiometry (DEXA) was used to obtain regional measurements of fat‐free mass index (FFMI) and fat mass index (FMI) in 48 DM1 and anthropometrically matched control pairs. Results: DM1 patients had lower regional FFMI and higher FMI than controls (P < 0.01–0.001). In DM1 patients, total FMI increased significantly with increased muscular disability rating, decreased motor function measurement, and with both decreasing vital capacity and total lung capacity. Hypertriglyceridemia correlated with increasing FMI. Conclusions: Regional FFMI is decreased in DM1, whereas FMI is underestimated by body mass index and is negatively correlated with patients' functional capacity. DEXA may provide valuable supporting evidence in the management of DM1. Muscle Nerve, 2011     

Increased resting energy expenditure in subjects with Emery-Dreifuss muscular dystrophy

We have studied changes in energy expenditure and body composition in adult males with Emery-Dreifuss muscular dystrophy, age-matched males with hyperCKemia and age-matched healthy controls. All participants were studied twice, 2-3 years apart. Resting energy expenditure was studied by indirect calorimetry, lean body mass and body fat by dual X-ray absorptiometry, and muscle mass was estimated based on 24-h urinary creatinine excretion. At baseline and 2-3 years later, body fat was significantly higher (P < 0.011 and P < 0.003, respectively) and lean body mass significantly lower (P < 0.024 and P < 0.012, respectively) in patients with Emery-Dreifuss muscular dystrophy as compared to subjects with hyperCKemia and healthy controls. Resting energy expenditure, over the study period, increased significantly in patients with Emery-Dreifuss muscular dystrophy (P < 0.031), but not in patients with hyperCKemia nor in healthy controls. Our study suggests that patients with Emery-Dreifuss muscular dystrophy may have increased energy expenditure relative to healthy subjects. If not met by increased caloric intake, this greater energy expenditure may partially contribute to a further deterioration in their muscle performance.     

Leisure Time Activity and Physical Fitness in Patients with Epilepsy

Summary: Purpose: To assess social and physical activity by means of a controlled study based on a questionnaire and standardized clinical tests of physical fitness.
Methods: In this controlled study, we assessed several issues of social and physical activity in 136 patients with epilepsy and 145 controls by using a questionnaire. In addition, we investigated physical fitness based on physical parameters such as body mass index and body composition and standardized tests of aerobic and muscle strength endurance and physical flexibility in 35 adult patients and 36 healthy controls.
Results: Leisure time habits both at home and outside the home were mainly similar except for visits of friends, which were significantly reduced in patients. Although the general attitude toward sports and physical activity was positive in both groups, and although controls judged sports to be dangerous significantly more often (p = 0.007), controls participated in regular sports significantly more frequently (p = 0.005). The clinical study demonstrated a lack of physical fitness, as suggested by the questionnaire data. Statistical analysis demonstrated significant differences of aerobic endurance (p < 0·001), muscle strength endurance (p < 0.001), and physical flexibility (p < 0.001) in favor of the control subjects. The body mass index was significantly higher in patients (p = 0.03), whereas the body composition revealed a higher body fat ratio only in female patients (p − 0.04).
Conclusions: We conclude that patients with epilepsy suffer from a considerable lack of physical fitness that might have an important impact on their general health and quality of life. In addition to overprotection and reduced mobility, the questionnaire revealed insufficient knowledge among health professionals and sport instructors as a major factor contributing to these results.     

Body composition in Parkinson's disease: a study with dual-energy X-ray absorptiometry

Some investigators have reported that patients with Parkinson's disease (PD) tend to lose weight, and have a low body mass index. For this reason, it was suggested that PD patients have an increased metabolic rate. Using dual-energy X-ray absorptiometry (DXA) we determined, the body composition in 52 unselected PD patients (28 males, 24 females) and in 80 age and sex-matched healthy controls (40 males, 40 females). The mean+/-SD duration of PD was 5.9+/-4.8 years. PD severity was assesed with the Unified PD Rating Scale (UPDRS) and Hoehn & Yahr staging. PD patients and controls did not differ significantly in height, weight and body mass index. The total fat and percentage of fat were significantly higher (p<0.01) and the lean body mass and water content were lower (p<0.001 for each) in male PD patients when compared with male controls. All these values were similar in female PD patients and female controls. Fat mass, lean body mass and water content did not correlate with the UPDRS scores and Hoehn &Yahr staging, although PD patients with higher UPDRS scores had higher percentage of fat.     

Hemiosteoporosis after severe stroke, independent of changes in body composition and weight

BACKGROUND AND PURPOSE: Fractures are a serious complication after stroke, and the risk of hip fractures among stroke patients is increased 2 to 4 times versus a reference population. Fractures after stroke are probably caused by the development of hemiosteoporosis and the high incidence of accidental falls. The aim of this study was to investigate the development of hemiosteoporosis in relation to other changes in body composition during the first year after severe stroke. METHODS: The study included 24 patients with extensive paresis after stroke. Bone mineral content (BMC) and fat and lean mass were assessed 1, 4, 7, and 12 months after stroke onset by a dual-energy x-ray absorptiometer. RESULTS: The loss of total body BMC was significant during the first year after stroke (-1.6%; P<0.05), but there were no significant changes in total lean or fat mass. At inclusion, there were no significant differences between sides in lean or fat mass or BMC, but during follow-up, BMC of the affected side decreased significantly compared with the same side at inclusion (-7.5%; P<0.01). Side differences in fat mass became significant between legs (9.3%; P<0.001) and whole sides (4. 8%; P<0.01). There were only minor side changes in lean mass. Loss of BMC was independent of weight changes. CONCLUSIONS: During the first year after severe stroke, patients developed pronounced hemiosteoporosis. This was not associated with general changes in lean or fat mass. The development of hemiosteoporosis was independent of weight changes after stroke.     

A pilot study on the impact of body composition on bone and mineral metabolism in Parkinson's disease

The impact of body composition on bone and mineral metabolism in Parkinson's disease (PD) was evaluated. Body fat mass, lean mass, bone mineral content, and bone mineral density (BMD) were measured by DXA in 22 PD patients and 104 controls. Female patients exhibited reduced body mass index, fat mass, and BMD compared to controls (p<0.05). Significant positive correlation was found between 25 OHD levels and BMC. Diminished bone mass in women with PD was found to be associated with alterations in body composition and low 25 OHD levels.     

Body composition and body mass index in Duchenne muscular dystrophy: Role of dietary intake

Introduction: In Duchenne muscular dystrophy (DMD) muscle is replaced by adipose tissue. The role of dietary intake (DI) in DMD has not been evaluated. In this study we examined body composition, body mass index (BMI), and adequacy of DI in patients with DMD and evaluated the influence of DI on body composition. Methods: Patients (n = 101; age 3–18 years; BMI 11.8–29.5 kg/m²) completed a dietary recall to determine DI and then underwent dual-energy X-ray absorptiometry to determine body composition. Results: Preschool-age and school-age boys with DMD had high total energy intake. Protein intake per kilogram exceeded recommendations. As age increased, the percentage of boys with abnormal BMI and fat mass increased, while lean mass decreased. Dietary intake did not predict body fat or lean mass. Discussion: Age-dependent changes in BD in boys with DMD may be due to endogenous metabolic factors related to the underlying disease process and to disease-related mobility impairments. Muscle Nerve 59 :295–302, 2019     

MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients

There is no effective treatment available for facioscapulohumeral muscular dystrophy type 1 (FSHD1), but emerging therapies are under way that call for a better understanding of natural history in this condition. In this prospective, longitudinal study, we used quantitative MRI to assess yearly disease progression in patients with FSHD1. Ambulatory patients with confirmed diagnosis of FSHD1 (25/20 men/women, age 20–75 years, FSHD score: 0–12) were tested with 359–560-day interval between tests. Using the MRI Dixon technique, muscle fat replacement was evaluated in paraspinal, thigh, and calf muscles. Changes were compared with those in FSHD score, muscle strength (hand-held dynamometry), 6-minute-walk-distance, 14-step-stair-test, and 5-time-sit-to-stand-test. Composite absolute fat fraction of all assessed muscles increased by 0.036 (CI 0.026–0.046, P < 0.001), with increases in all measured muscle groups. The clinical severity FSHD score worsened (10%, P < 0.05), muscle strength decreased over the hip (8%), neck (8%), and back (17%) (P < 0.05), but other strength measures, 6-minute-walk-distance, 5-times-sit-to-stand-test, and 14-step-stair-test were unchanged. Changes in muscle strength, FSHD score, and fat fraction did not correlate. This first study to systemically monitor quantitative fat replacement longitudinally in FSHD1 shows that MRI provides an objective measure of disease progression, often before changes can be appreciated in strength and functional tests. The study indicates that quantitative MRI can be a helpful end-point in follow-up and therapeutic trials of patients with FSHD1.     

Influence of a two-year steroid treatment on body composition as measured by dual X-ray absorptiometry in boys with Duchenne muscular dystrophy

Steroids are nowadays routinely used as a long-term treatment in Duchenne muscular dystrophy (DMD). Their effects on body composition were assessed using dual X-ray absorptiometry. The study followed over 2 years 29 genetically confirmed DMD patients: 21 in the steroid-treated group and 8 in the steroid-naïve group. After 2 years of steroid treatment, the lean tissue mass values increased significantly (p < 0.0001), the percentage of body fat mass remained practically constant (p = 0.94) in comparison with the initial visit. In the steroid-naïve patients, there were no significant increases in the lean tissue mass but deterioration in body composition confirmed by a significant increase in the percentage of body fat mass. Besides, significant negative correlations were found between the percentage of body fat mass and the MFM total score (R = −0.79, n = 76, p < 0.0001). A 2-year steroid treatment improves significantly body composition of boys with DMD through a significant increase in lean tissue mass. We suggest that a thorough check of body composition should be carried out before steroid treatment discontinuation in case of overweight gain.     

Effects of Gn-RH, TRH, and CRF administration on plasma leptin levels in lean and obese women

Leptin, a hormone which is produced by adipose tissue, has been shown to inhibit food intake, increase energy expenditure and influence the function of hypothalamo-pituitary-gonadal, -thyroid, and -adrenal systems. We have examined the association between leptin concentrations (RIA method) and levels of different hormones using standard Gn-RH, TRH and CRF tests (at 0, 30, 60, and 120 min) in regularly menstruating 10 lean and 10 obese premenopausal women in follicular phase. FSH, LH, estradiol (E2) and progesterone (P) concentrations in Gn-RH test; TSH, PRL, fT3, fT4 in TRH test; ACTH, DHEA-S, cortisol in CRF test were measured by RIA, ELISA or IRMA methods. The obese subjects had thicker four skinfolds, higher fat content in the body, and bigger BMI, compared to the lean females. Gn-RH test: We have noted higher basal leptin values in obese women than in lean subjects, which was stable during the Gn-RH test. In the same blood specimen, basal insulin concentrations did not differ between the tested groups of patients. There were no correlations between E(2), P, or gonadotropins and plasma leptin concentrations between both groups of patients. We have revealed the negative correlation between LH mobilization (maximal incremental values over basal levels; Delta%) and baseline leptin concentrations in all observed subjects. TRH test: In both groups of patients the leptin levels decreased at 120 min of TRH administration. We have noted diminished PRL and TSH mobilisation in obese subjects in comparison to the controls. In all females (n = 20) the correlations between TSH or PRL mobilization and BMI, skinfold thickness and the mass of body fat in kg were negative. In obese subjects only we observed the positive correlations between fT(3)concentrations at 60 and 120 min of the test or Delta% of fT(3)and leptin levels. CRF test: In obese females, we noted higher basal ACTH and cortisol concentrations with decreased mobilization (Delta%) of ACTH or cortisol, as compared to the controls. Basal leptin values were also higher in obese women comparing controls and did not significantly change within 2 h after CRF injection. In all the observed subjects (n = 20), we noted positive correlations between baseline values of leptin and ACTH, as well as negative correlation between basal concentrations of leptin and mobilisation of cortisol. The obtained results show that the hypothalamic neuropeptides may influence leptin secretion in humans.     

Whole‐body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy

Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity. Methods: Two groups of MRI scans were analyzed: whole‐body scans from 13 subjects with FSHD; and upper and lower extremity scans from 34 subjects with FSHD who participated in the MYO‐029 clinical trial. Muscles were scored for fat infiltration and edema‐like changes. Fat infiltration scores were compared with muscle strength and function. Results: The analysis revealed a distinctive pattern of both frequent muscle involvement and frequent sparing in FSHD. Averaged fat infiltration scores for muscle groups in the legs correlated with quantitative muscle strength and 10‐meter walk times. Conclusions: Advances in MRI technology allow for acquisition of rapid, high‐quality, whole‐body imaging in diffuse muscle disease. This technique offers a promising disease biomarker in FSHD and other muscle diseases. Muscle Nerve 52: 512–520, 2015     

Body fat distribution in Parkinson's disease: An MRI-based body fat quantification study

IntroductionThere is some evidence that Parkinson's Disease (PD) patients have lower body weight and lower fat mass when compared to healthy subjects and that lower body weight and fat mass influence disease risk and progression. It remains unclear, however, if weight loss of fat mass loss occurs only in a subgroup of patients and whether fat distribution is altered during PD. The aim of this study was to prospectively investigate adipose tissue content and distribution in PD patients.MethodsThe body fat composition of PD patients (N = 54) was compared with age matched healthy controls (N = 55) using a magnetic resonance imaging (MRI)-based method. A longitudinal MRI scan was acquired in 25 PD patients after a mean follow up period of 12 months.ResultsThe volume of total body fat as well as of visceral fat showed no difference between PD patients and healthy controls at baseline or at follow up. However, PD patients displayed decreased subcutaneous fat tissue (p = 0.01) and a higher visceral to subcutaneous fat ratio as compared to controls (p = 0.004). After follow up, 16 PD patients did not lose weight, while 9 PD patients lost between 0.5 and 10 kg.ConclusionFat distribution is altered in PD patients, with an increased ratio of visceral to subcutaneous fat.     

Comparative studies of metabolic and affective anomalies in the lean and obese

(1) The in vivo fat mobilizing capacity of the obese is adequate and exceeds that of the lean at rest and under non-nutritional stimulation. A high correlation exists between body weight, the weight of adipose tissue, body surface area and the magnitude of adipokinesis, as well as total fat, triglyceride levels and VMA excretion. (2) Under usual nutritional stimulation, body surface area and lean body weight appear to be the determining factors of the absolute amounts of FFA production rates, pool sizes, lipid levels and VMA excretion. The often documented failure of the obese to increase FFA levels in starvation or other stimulation is a misleading phenomenon, explainable in kinetic studies by an inadequate restraint of fat mobilization at rest (vs the needs of lean body mass), providing energy even during prolonged fast, without the need to increase FFA production rate. (3) The full exhibition of fat mobilizing capacity of the large adipose tissue of the obese becomes apparent, however, under external stimulation, e.g. epinephrine. This indicates normal metabolic activity of the obese fat tissue. (4) The comparison of affective measures between the lean and obese showed a non-significant increase of anxiety and inward hostility in the obese patients. (5) Analysis of correlation between anxiety, inward/ outward hostility and the numerous biochemical data: (a) FFA production rate and pool size; (b) total fat and triglyceride; (c) VMA excretion both at rest and under stimulation (with epinephrine and starvation) give evidence of no correlation both in the obese and lean. (6) Emotional factors cannot be invoked to explain or contribute to metabolic anomalies of FFA and circulating lipids in the obese. Psychogenic influences are important in the genesis of obesity by overeating. The metabolic anomalies are secondary to an excessive mass of adipose tissue and are not distinguishable according to the specific psychogenic influence that may have contributed to the development of obesity.     

Bone health in facioscapulohumeral muscular dystrophy: A cross‐sectional study

Introduction: Herein we provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). Methods : Ninety‐four adult individuals with FSHD type 1 from 2 sites were included in this cross‐sectional study. Clinical characteristics and determinants of bone health were examined. Relationships between bone mineral density (BMD), strength, and function were explored. Results : Nearly a third of subjects were deficient in vitamin D₃. Mean whole‐body BMD z‐score was ?0.7; 11% of subjects had greater than age‐related reductions in whole‐body BMD (z‐score < ?2.0). Whole‐body and regional BMDs were associated with strength and function. Thirty‐six percent had a history of fractures. Likelihood of fractures was reduced for those with normal whole‐body BMD (odds ratio = 0.25, 95% confidence interval 0.04–0.78). Discussion : A diagnosis of FSHD is not necessarily predictive of reduced BMD or increased fracture rate. Given the considerable variability of bone health in the FSHD population, strength and function can serve as predictors of BMD. Muscle Nerve 56 : 1108–1113, 2017     

Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy

Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. This study evaluates the use of proton magnetic resonance spectroscopy (¹H MRS) as a biomarker of muscle strength and function in FSHD. Methods: Thirty‐six individuals with FSHD and 15 healthy controls underwent multivoxel ¹H MRS of a cross‐section of the mid‐thigh. Concentrations of creatine, intramyocellular and extramyocellular lipids, and trimethylamine (TMA)‐containing compounds in skeletal muscle were calculated. Metabolite concentrations for individuals with FSHD were compared with those of controls. The relationship between metabolite concentrations and muscle strength was also examined. Results: The TMA/creatine (Cr) ratio in individuals with FSHD was reduced compared with controls. The TMA/Cr ratio in the hamstrings also showed a moderate linear correlation with muscle strength. Discussion: ¹H MRS offers a potential method of detecting early muscle pathology in FSHD prior to the development of fat infiltration. Muscle Nerve 57 : 958–963, 2018     

男性血清抵抗素、脂联素水平与骨密度的关系：232名资料分析

目的：调查分析长沙地区232名健康男性志愿者血清抵抗素、脂联素水平与骨密度的关系。 方法：随机选择长沙地区汉族健康男性志愿者232名，对调查方案均知情同意，排除患有影响骨代谢疾病、服用影响骨代谢药物者。用酶联免疫吸附试验测定受试者血清脂联素、抵抗素水平；用DXA测定总体、腰椎正位、总髋部骨密度，全身扫描测定体脂水平及瘦体质量。分析血清脂联素、抵抗素水平与体脂及各部位骨密度的关系；利用逐步多元线性回归分析各部位骨密度的影响因素。 结果：抵抗素与体脂无相关性。脂联素与体脂呈负相关(r= -0.216，P < 0.05)，校正年龄与体质量指数后，相关性消失(r= -0.006，P > 0.05)。脂联素与总体、腰椎正位、总髋部骨密度呈负相关，校正年龄与体脂后，相关性存在。抵抗素与总体、腰椎正位、总髋部骨密度无相关性。多元线性回归分析显示脂联素是男性各部位骨密度的独立影响因素。 结论：抵抗素与体脂及各部位骨密度均无相关性。脂联素与体脂相关，与各部位骨密度呈负相关，是男性各部位骨密度的独立影响因素。     

Effect of valproic acid treatment on body composition, leptin and the soluble leptin receptor in epileptic children

PURPOSE: The aim of the study was to determine the influence of valproic acid (VPA) treatment on leptin, the soluble leptin receptor (sOB-R), the sOB-R/leptin ratio, body composition and insulin resistance in epileptic children. METHODS: A cross-sectional cohort study was conducted at the Medical University Innsbruck, Austria. Children >6 years with idiopathic epilepsy and antiepileptic drug therapy since at least six months were eligible. Leptin concentration, the sOB-R, the sOB-R/leptin ratio, body composition and glucose homeostasis were determined. RESULTS: 87 children (median [range] age 12.8 years [6.0-18.6]) were on treatment with VPA, 55 (12.3 years [6.4-18.3]) on other AEDs, comprising the non-VPA group. VPA-treated children had higher leptin concentrations, body-mass-index standard-deviation score (SDS), body fat (each p<0.001), serum insulin concentrations (p=0.014) and homeostasis model assessment (HOMA) index (p=0.009), as well as a lower sOB-R/leptin ratio (p<0.001) when compared to the non-VPA group. Overweight VPA-treated children showed lower sOB-R concentrations and a lower sOB-R/leptin ratio (each p<0.001) as well as higher body fat and leptin levels (each p<0.001) compared to lean VPA-treated children. CONCLUSION: VPA monotherapy was associated with higher body weight, body fat and serum leptin concentrations as well as impaired glucose homeostasis. Low sOB-R concentrations and a low sOB-R/leptin ratio in overweight VPA-treated patients might contribute to disturbances in glucose homeostasis and to the development of the metabolic syndrome in these children later in life.     

Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis

The aim was to test whether strength per unit of muscle area (specific muscle strength) is affected in facioscapulohumeral dystrophy (FSHD) patients, as compared to healthy controls. Ten patients and ten healthy volunteers underwent an MRI examination and maximum voluntary isometric contraction measurements (MVICs) of the quadriceps muscles. Contractile muscle volume, as obtained from the MR images, was combined with the MVICs to calculate the physiological cross-sectional area (PCSA) and muscle strength using a musculoskeletal model. Subsequently, specific strength was calculated for each subject as muscle strength divided by total PCSA. FSHD patients had a reduced quadriceps muscle strength (median(1st quartile–3rd quartile): 2011 (905.4–2775) N vs. 5510 (4727–8321) N, p <0.001) and total PCSA (83.6 (62.3–124.8) cm² vs. 140.1(97.1–189.9) cm², p = 0.015) compared to healthy controls. Furthermore, the specific strength of the quadriceps was significantly lower in patients compared to healthy controls (20.9 (14.7–24.0) N/cm² vs. 41.9 (38.3–49.0) N/cm², p <0.001). Thus, even when correcting for atrophy and fatty infiltration, patients with FSHD generated less force per unit area of residual muscle tissue than healthy controls. Possible explanations include impaired force propagation due to fatty infiltration, reduced intrinsic force-generating capacity of the muscle fibers, or mitochondrial abnormalities leading to impaired energy metabolism.     

Depression and body composition among older adults

Objectives: Recent investigations have reported an association between depression and geriatric syndromes associated with low body mass, including frailty and osteoporosis. The objective of this study was to explore the relationship between depression and body composition among older adults.

Methods: Data were from a case-cohort study (n?=?98) of adults aged 60 and older nested within the Baltimore Epidemiologic Catchment Area (ECA) Study. Lifetime depression syndrome was assessed using the Diagnostic Interview Schedule (DIS). Body composition (total and central lean and fat mass) was assessed by dual-energy x-ray absorptiometry (DEXA). The association between depression and body composition was evaluated using linear regression with bootstrap standard errors.

Results: Overall, there was no association between depression and total fat or total lean body mass. Among women, depression was associated with reduced central fat (B?=??3.6?kg, p?p?

Conclusions: Depression is associated with significantly lower central fat and lean mass among older women. These findings are consistent with the hypothesis that depression and frailty are interrelated in later life, particularly among women.