Clinical Reasoning: A 32-Year-Old Man With Painless Bilateral Shoulder Girdle Weakness and Atrophy.

We report a case of 32-year-old man with progressive, asymmetric, proximal weakness of both upper limbs for 14 months. On examination, he had gynecomastia and wasting and weakness of his deltoid, supraspinatus, infraspinatus, pectoralis, biceps, and triceps muscles, along with sensory loss of his left C5-C8 dermatomes. Deep tendon reflexes were depressed in the upper limbs and normal in the lower limbs. There was a history of a road traffic accident 2 years ago without any neurologic deficits. We discuss the clinical approach, differential diagnosis, investigations, and treatment options for bibrachial weakness.

Accelerometer-derived movement features as predictive biomarkers for muscle atrophy in neurocritical care: a prospective cohort study.

BACKGROUND: Physical inactivity and subsequent muscle atrophy are highly prevalent in neurocritical care and are recognized as key mechanisms underlying intensive care unit acquired weakness (ICUAW). The lack of quantifiable biomarkers for inactivity complicates the assessment of its relative importance compared to other conditions under the syndromic diagnosis of ICUAW. We hypothesize that active movement, as opposed to passive movement without active patient participation, can serve as a valid proxy for activity and may help predict muscle atrophy. To test this hypothesis, we utilized non-invasive, body-fixed accelerometers to compute measures of active movement and subsequently developed a machine learning model to predict muscle atrophy. METHODS: This study was conducted as a single-center, prospective, observational cohort study as part of the MINCE registry (metabolism and nutrition in neurointensive care, DRKS-ID: DRKS00031472). Atrophy of rectus femoris muscle (RFM) relative to baseline (day 0) was evaluated at days 3, 7 and 10 after intensive care unit (ICU) admission and served as the dependent variable in a generalized linear mixed model with Least Absolute Shrinkage and Selection Operator regularization and nested-cross validation. RESULTS: Out of 407 patients screened, 53 patients (age: 59.2 years (SD 15.9), 31 (58.5%) male) with a total of 91 available accelerometer datasets were enrolled. RFM thickness changed - 19.5% (SD 12.0) by day 10. Out of 12 demographic, clinical, nutritional and accelerometer-derived variables, baseline RFM muscle mass (beta - 5.1, 95% CI - 7.9 to - 3.8) and proportion of active movement (% activity) (beta 1.6, 95% CI 0.1 to 4.9) were selected as significant predictors of muscle atrophy. Including movement features into the prediction model substantially improved performance on an unseen test data set (including movement features: R2 = 79%; excluding movement features: R2 = 55%). CONCLUSION: Active movement, as measured with thigh-fixed accelerometers, is a key risk factor for muscle atrophy in neurocritical care patients. Quantifiable biomarkers reflecting the level of activity can support more precise phenotyping of ICUAW and may direct tailored interventions to support activity in the ICU. Studies addressing the external validity of these findings beyond the neurointensive care unit are warranted. TRIAL REGISTRATION: DRKS00031472, retrospectively registered on 13.03.2023.

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

RATIONALE: Allan-Herndon-Dudley syndrome (AHDS) results from a pathogenic variant in the hemizygous subunit of the SLC16A2 gene, which encodes monocarboxylate transporter 8 and follows an X-linked recessive pattern. AHDS manifests as neuropsychomotor developmental delay, intellectual disability, movement disorders, and thyroid hormone abnormalities. It is frequently misdiagnosed as cerebral palsy or hypothyroidism. PATIENT CONCERNS: A 9-month-old male infant exhibited poor head control, hypodynamia, motor retardation, hypertonic limbs, and thyroid abnormalities. Despite levothyroxine supplementation and rehabilitation therapy, no improvements were observed. Whole-exome sequencing identified a novel nonsense mutation in SLC16A2 (c.124G > T, p.E42X), which unequivocally established the diagnosis. DIAGNOSES: AHDS was confirmed. INTERVENTIONS: Levothyroxine treatment commenced early in infancy, followed by 3 months of rehabilitation therapy, starting at 5 months of age. The combined administration of levothyroxine and methimazole was initiated at 1 year and 10 months of age, respectively. OUTCOMES: While improvements were noted in thyroid hormone levels, neurological developmental delays persisted. LESSONS: AHDS should be considered in patients presenting with atypical neurological features and thyroid hormone abnormalities such as elevated triiodothyronine and decreased thyroxine levels. The early utilization of exome sequencing aids in prompt diagnosis. The identified SLC16A2 nonsense mutation correlates with severe neurological phenotypes and adds to the spectrum of genetic variations associated with AHDS.

Case report: A patient with brachio-cervical inflammatory myopathy was misdiagnosed as flail arm syndrome.

Brachio-cervical inflammatory myopathy (BCIM) is a rare inflammatory myopathy characterized by dysphagia, bilateral upper limb atrophy, limb-girdle muscle weakness, and myositis-specific antibody (MSA) negativity. BCIM has a low incidence and is commonly associated with autoimmune diseases. We present a case report of a 55-year-old man with progressive upper limb weakness and atrophy, diagnosed with flail arm syndrome (FAS). The initial electromyography revealed extensive spontaneous muscle activity and increased duration of motor unit potentials (MUPs). During follow-up, evidence of myogenic damage was observed, as indicated by a decreased duration of MUPs in the right biceps muscle. Laboratory and genetic testing ruled out hereditary or acquired diseases. Negative serological antibodies for myasthenia gravis. Hereditary or acquired diseases were ruled out through laboratory and genetic testing. Whole-body muscle magnetic resonance imaging (MRI) showed extensive edema and fat replacement in the bilateral upper limbs, scapular, and central axis muscles, while the lower extremities were relatively mildly affected. Muscle biopsy revealed numerous foci of inflammatory cells distributed throughout the muscle bundle, with predominant CD20, CD138, and CD68 expression, accompanied by a light infiltration of CD3 and CD4 expression. The muscle weakness improved with the combination of oral prednisone (initially 60 mg/day, tapered) and methotrexate (5 mg/week) treatment.

Clinical Reasoning: A 55-Year-Old Woman With Painless Hand Weakness and Atrophy.

Hand weakness is a frequent chief concern in neurology practice. We report a case of a 55-year-old woman presenting with a chronic, gradually worsening right hand weakness and atrophy, selectively affecting the thenar muscles, without any sensory symptoms. She had a history of carpal tunnel syndrome and previously underwent surgical carpal tunnel release. This case delves into the differential diagnosis of hand weakness and atrophy, emphasizing the significance of myotomal innervation in intrinsic hand muscles. Furthermore, it outlines a systematic approach to diagnosing an uncommon cause for a common clinical presentation, offering a comprehensive differential diagnosis, and exploring various possible causes.

Opportunistic screening for long-term muscle wasting in critically ill patients: insights from an acute pancreatitis cohort.

OBJECTIVES: To assess the feasibility of long-term muscle monitoring, we implemented an AI-guided segmentation approach on clinically indicated Computed Tomography (CT) examinations conducted throughout the hospitalization period of patients admitted to the intensive care unit (ICU) with acute pancreatitis (AP). In addition, we aimed to investigate the potential of muscle monitoring for early detection of patients at nutritional risk and those experiencing adverse outcomes. This cohort served as a model for potential integration into clinical practice. MATERIALS: Retrospective cohort study including 100 patients suffering from AP that underwent a minimum of three CT scans during hospitalization, totaling 749 assessments. Sequential segmentation of psoas muscle area (PMA) was performed and was relative muscle loss per day for the entire monitoring period, as well as for the interval between each consecutive scan was calculated. Subgroup and outcome analyses were performed including ANOVA. Discriminatory power of muscle decay rates was evaluated using ROC analysis. RESULTS: Monitoring PMA decay revealed significant long-term losses of 48.20% throughout the hospitalization period, with an average daily decline of 0.98%. Loss rates diverged significantly between survival groups, with 1.34% PMA decay per day among non-survivors vs. 0.74% in survivors. Overweight patients exhibited significantly higher total PMA losses (52.53 vs. 42.91%; p = 0.02) and average PMA loss per day (of 1.13 vs. 0.80%; p = 0.039). The first and the maximum decay rate, in average available after 6.16 and 17.03 days after ICU admission, showed convincing discriminatory power for survival in ROC analysis (AUC 0.607 and 0.718). Both thresholds for maximum loss (at 3.23% decay per day) and for the initial loss rate (at 1.98% per day) proved to be significant predictors of mortality. CONCLUSIONS: The innovative AI-based PMA segmentation method proved robust and effortless, enabling the first comprehensive assessment of muscle wasting in a large cohort of intensive care pancreatitis patients. Findings revealed significant muscle wasting (48.20% on average), particularly notable in overweight individuals. Higher rates of initial and maximum muscle loss, detectable early, correlated strongly with survival. Integrating this tool into routine clinical practice will enable continuous muscle status tracking and early identification of those at risk for unfavorable outcomes.

Spine-specific sarcopenia: distinguishing paraspinal muscle atrophy from generalized sarcopenia.

BACKGROUND CONTEXT: Atrophy of the paraspinal musculature (PM) as well as generalized sarcopenia are increasingly reported as important parameters for clinical outcomes in the field of spine surgery. Despite growing awareness and potential similarities between both conditions, the relationship between "generalized" and "spine-specific" sarcopenia is unclear. PURPOSE: To investigate the association between generalized and spine-specific sarcopenia. STUDY DESIGN: Retrospective cross-sectional study. PATIENT SAMPLE: Patients undergoing lumbar spinal fusion surgery for degenerative spinal pathologies. OUTCOME MEASURES: Generalized sarcopenia was evaluated with the short physical performance battery (SPPB), grip strength, and the psoas index, while spine-specific sarcopenia was evaluated by measuring fatty infiltration (FI) of the PM. METHODS: We used custom software written in MATLAB® to calculate the FI of the PM. The correlation between FI of the PM and assessments of generalized sarcopenia was calculated using Spearman's rank correlation coefficient (rho). The strength of the correlation was evaluated according to established cut-offs: negligible: 0-0.3, low: 0.3-0.5, moderate: 0.5-0.7, high: 0.7-0.9, and very high≥0.9. In a Receiver Operating Characteristics (ROC) analysis, the Area Under the Curve (AUC) of sarcopenia assessments to predict severe multifidus atrophy (FI≥50%) was calculated. In a secondary analysis, factors associated with severe multifidus atrophy in nonsarcopenic patients were analyzed. RESULTS: A total of 125 (43% female) patients, with a median age of 63 (IQR 55-73) were included. The most common surgical indication was lumbar spinal stenosis (79.5%). The median FI of the multifidus was 45.5% (IQR 35.6-55.2). Grip strength demonstrated the highest correlation with FI of the multifidus and erector spinae (rho=-0.43 and -0.32, p<.001); the other correlations were significant (p<.05) but lower in strength. In the AUC analysis, the AUC was 0.61 for the SPPB, 0.71 for grip strength, and 0.72 for the psoas index. The latter two were worse in female patients, with an AUC of 0.48 and 0.49. Facet joint arthropathy (OR: 1.26, 95% CI: 1.11-1.47, p=.001) and foraminal stenosis (OR: 1.54, 95% CI: 1.10-2.23, p=.015) were independently associated with severe multifidus atrophy in our secondary analysis. CONCLUSION: Our study demonstrates a low correlation between generalized and spine-specific sarcopenia. These findings highlight the risk of misdiagnosis when relying on screening tools for general sarcopenia and suggest that general and spine-specific sarcopenia may have distinct etiologies.

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency

Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disorder characterized by peripheral thyrotoxicosis and severe cognitive and motor disability due to cerebral hypothyroidism. 3,3',5-triiodothyroacetic acid (Triac) was shown to improve peripheral thyrotoxicosis but data on neurodevelopmental outcome are scarce. We present a case of MCT8 deficiency and the experience with Triac focusing on change in neurodevelopmental and peripheral features. A five-month-old boy was referred because of feeding difficulty, central hypotonia and global developmental delay. Despite six months of physiotherapy, physical developmental milestones did not improve, and distal muscle tone was increased. A hemizygous pathogenic variant in SLC16A2 was found and MCT8 deficiency was confirmed at 19-months. Thyroid stimulating hormone was 2.83 mIU/mL, free thyroxine 6.24 pmol/L (N=12-22) and free triiodothyronine (FT3) 15.65pmol/L (N=3.1-6.8). He had tachycardia, blood pressure and transaminases were elevated. Triac was started at 21-months. Two weeks after treatment, FT3 dramatically decreased, steady normal serum FT3 was achieved at 28-months. Assessment of neurodevelopmental milestones and signs of hyperthyroidism were evaluated at baseline, 6 months and 12 months after treatment. Signs of hyperthyroidism were improved by 6 months. Developmental composite scores of Bayley Scales of Infant Developmental 3rd Edition remained the same but important developmental milestones (head control, recognition of caregiver, response to his name) were attained, regression in the attained milestones were not observed. Initial dose, management protocol for Triac and research into its efficacy on neurodevelopmental signs in MCT8 deficiency are progressing. This case presents evidence that Triac may resolve peripheral thyrotoxicosis successfully and may slow neurodevelopmental regression, while some developmental milestones were achieved after one year of treatment.

Considerations for a protein-focused screening instrument in clinical nutrition assessment.

Physiological stress during injury and surgery negatively impacts protein balance and muscle mass maintenance. Adequate perioperative protein intake may attenuate muscle atrophy to maintain and facilitate functional recovery, particularly in older adults; yet, screening tools routinely used in clinical settings do not specifically assess protein intake when assessing nutrition risk. Although assessing malnutrition is a priority, suboptimal protein intake in non-malnourished patients should also be identified given protein's critical role in muscle health. This opinion paper highlights the potential for using a clinically appropriate protein-focused screener for rapid and efficient characterization of protein intake.

Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.

BACKGROUND: The monocarboxylate transporter 8 (MCT8) plays a vital role in maintaining brain thyroid hormone homeostasis. This transmembrane transporter is expressed at the brain barriers, as the blood-brain barrier (BBB), and in neural cells, being the sole known thyroid hormone-specific transporter to date. Inactivating mutations in the MCT8 gene (SLC16A2) cause the Allan-Herndon-Dudley Syndrome (AHDS) or MCT8 deficiency, a rare X-linked disease characterized by delayed neurodevelopment and severe psychomotor disorders. The underlying pathophysiological mechanisms of AHDS remain unclear, and no effective treatments are available for the neurological symptoms of the disease. METHODS: Neurovascular unit ultrastructure was studied by means of transmission electron microscopy. BBB permeability and integrity were evaluated by immunohistochemistry, non-permeable dye infiltration assays and histological staining techniques. Brain blood-vessel density was evaluated by immunofluorescence and magnetic resonance angiography. Finally, angiogenic-related factors expression was evaluated by qRT-PCR. The studies were carried out both in an MCT8 deficient subject and Mct8/Dio2KO mice, an AHDS murine model, and their respective controls. RESULTS: Ultrastructural analysis of the BBB of Mct8/Dio2KO mice revealed significant alterations in neurovascular unit integrity and increased transcytotic flux. We also found functional alterations in the BBB permeability, as shown by an increased presence of peripheral IgG, Sodium Fluorescein and Evans Blue, along with increased brain microhemorrhages. We also observed alterations in the angiogenic process, with reduced blood vessel density in adult mice brain and altered expression of angiogenesis-related factors during brain development. Similarly, AHDS human brain samples showed increased BBB permeability to IgG and decreased blood vessel density. CONCLUSIONS: These findings identify for the first time neurovascular alterations in the MCT8-deficient brain, including a disruption of the integrity of the BBB and alterations in the neurovascular unit ultrastructure as a new pathophysiological mechanism for AHDS. These results open a new field for potential therapeutic targets for the neurological symptoms of these patients and unveils magnetic resonance angiography as a new non-invasive in vivo technique for evaluating the progression of the disease.

Cervical Spondylotic Amyotrophy Initially Misdiagnosed as Amyotrophic Lateral Sclerosis.

A 63-year-old man diagnosed with mixed-type cervical spondylotic amyotrophy exhibited severe atrophy in the right biceps brachii, teres major, and intrinsic hand muscles, resulting in level 3 muscle weakness. Magnetic resonance imaging showed symmetrical high signal, also referred to as the snake eye sign. Previously, he was erroneously diagnosed with amyotrophic lateral sclerosis. He had undergone anterior cervical surgery 7 years prior. At present, his right upper limb muscles display minimal atrophy compared with the left, with muscle strength nearing level 4, which is considered normal. We believe that prompt surgical intervention on diagnosis of cervical spondylotic amyotrophy, along with comprehensive postsurgery rehabilitation, can halt further deterioration of the condition and accelerate recovery.

A Stretchable, Conductive Thread-Based Sensor Towards Wearable Monitoring of Muscle Atrophy.

OBJECTIVE: We present the first wearable sensor designed for frequent monitoring of muscle atrophy and validate performance upon canonical phantoms. METHODS: Our approach relies on Faraday's law of induction and exploits the dependence of magnetic flux density on cross-sectional area. We employ wrap-around transmit and receive coils that stretch to fit changing limb sizes using conductive threads (e-threads) in a novel zig zag pattern. Changes in the loop size result in changes in the magnitude and phase of the transmission coefficient between loops. RESULTS: Simulation and in vitro measurement results are in excellent agreement. As a proof-of-concept, a cylindrical calf model for an average-sized subject is considered. The frequency of 60 MHz is selected via simulation for optimal limb size resolution in magnitude and phase while remaining in the inductive mode of operation. We can monitor muscle volume loss of up to 51%, with an approximate resolution of 0.17 dB and 1.58° per 1% volume loss. In terms of muscle circumference, we achieve resolution of 0.75 dB and 6.7° per centimeter. Thus, we can monitor small-scale changes in overall limb size. CONCLUSION: This is the first known approach for monitoring muscle atrophy with a sensor designed to be worn. Additionally, this work brings forward innovations in creating stretchable electronics from e-threads (as opposed to inks, liquid metal, or polymer). SIGNIFICANCE: The proposed sensor will provide improved monitoring for patients suffering from muscle atrophy. The stretching mechanism can be seamlessly integrated into garments which creates unprecedented opportunities for future wearable devices.

The role of magnetic resonance imaging in the diagnostic work-out of myopathies: differential diagnosis between inflammatory myopathies and muscular dystrophies.

OBJECTIVES: The differential diagnosis between idiopathic inflammatory myopathies (IIM) and muscular dystrophies (MD) may be challenging. We analysed the potential role of muscular magnetic resonance imaging (MRI) in the differential diagnosis between IIM and MD. METHODS: MRI of patients (91 IIM and 43 MD), studied with a standardised protocol, have been collected. The presence of oedema, muscular atrophy and intramuscular adipose changes were evaluated. Moreover, we computed a composite score for each MRI item to better discriminate between the two diseases. RESULTS: Oedema was significantly more prevalent in IIM compared with MD in pelvis muscles (p<0.001), anterior lodge and medial lodges (p=0.044) of the thighs. Adipose infiltration/substitution and muscular atrophy were more prevalent in MD, in particular adipose tissue was prevalent in all the compartments of the thighs (p<0.05), atrophy was prevalent at the thighs and pelvis muscles (p<0.001). The probability of IIM increased with higher oedema score and decreased with higher atrophy and intramuscular adipose infiltration/substitution scores. CONCLUSIONS: A different distribution of muscular involvement between IIM and MD has been identified. Muscular MRI may be useful in the differential diagnosis, potentially reducing the number of muscular biopsies that may be reserved only for doubtful cases.

Association Between Anthropometric Indices and Skeletal-Muscle Atrophy in Chinese Patients with Stable Chronic Obstructive Pulmonary Disease: A Cross-Sectional Study.

Purpose: Anthropometric indices are simple indicators of patient nutritional status. However, the association between these indices and skeletal-muscle atrophy in patients with stable chronic obstructive pulmonary disease (COPD) has not been fully investigated. In this study, we evaluated this association. Patients and Methods: We recruited 123 outpatients with stable COPD from a general hospital in China from 2020 to 2021. We recorded their demographic characteristics, including age, sex, course of illness, dyspnea score, body mass index (BMI), force expiratory volume in 1 second (FEV1), forced vital capacity (FVC), smoking status, and severity grading. In addition, patients' anthropometric indices, including fat-free mass index (FFMI) and appendicular skeletal-muscle mass index (ASMI), were measured using a body composition analyzer, and measurements were taken of the triceps skinfold (TSF), midarm circumference (MAC), and calf circumference (CC). We drew and analyzed a receiver operating characteristic (ROC) curve to identify the best intercept point value for the assessment of skeletal-muscle atrophy. Results: The TSF, MAC, CC, FFMI, and ASMI of COPD patients were 1.08 ± 0.44 cm, 26.39 ± 2.92 cm, 34.5 ± 3.06 cm, 17.49 ± 1.86 kg/m2, and 8.17 ± 0.90 kg/m2, respectively. These anthropometric indices had a significant positive correlation with skeletal-muscle mass (correlation values, 0.481-0.820). CC was strongly correlated with both FFMI and ASMI. The ROC curve showed an area-under-the-curve (AUC) value of 0.873-0.959. Conclusion: Anthropometric indices were correlated with skeletal-muscle mass. CC showed the best diagnostic value in COPD patients, suggesting its effectiveness as a simple method for assessing skeletal-muscle atrophy and identifying patients with a noticeable reduction in muscle mass. Such patients require early, multidisciplinary intervention.

The effects of synbiotic supplementation on enteral feeding tolerance, protein homeostasis, and muscle wasting of critically ill adult patients: a randomized controlled trial.

BACKGROUND: Enteral feeding intolerance, energy-protein malnutrition, and muscle wasting are common conditions in the critical care setting. The primary aim of this study was to investigate the effect of synbiotic supplementation on enteral feed volume, energy and protein homeostasis, and muscle mass maintenance in critically ill adult patients. METHODS: A consecutive of 42 patients admitted to the Edalatian Medical ICU, requiring enteral nutrition (EN), were prospectively randomized to receive the synbiotic capsule (containing a combination of Lactobacillus, Bifidobacterium, Streptococcus, and fructooligosaccharides) or placebo (21 patients in each group) for a maximum of 14 days. Enteral intolerance and energy homeostasis were evaluated on a daily basis. Nitrogen balance and 24-h urine creatinine excretion were recorded on days 1 and 14. Mid-arm circumference was recorded every 3 days. RESULTS: Mean EN volume, energy, and protein intake per day were 962.5 ± 533.82 ml, 770 ± 427.05 kcal, and 38.5 ± 21.35 g (fourth day) vs. 590 ± 321.1 ml, 472 ± 256.81 kcal, and 23.6 ± 12.84 g (first day) in the synbiotic group (p < 0.05). Changes in the placebo group were not statistically significant. On day 1, nitrogen balance (NB) was - 19.84 ± 8.03 in the synbiotic vs. - 10.99 ± 9.12 in the placebo group (p = 0.003). On day 14, NB was - 14.18 ± 13.05 in the synbiotic and - 9.59 ± 7.71 in the placebo group (p = 0.41). Mid-arm circumference (MAC), 24-h urine creatinine, and creatinine-height index were almost steady in the synbiotic group, while they decreased in the placebo group. CONCLUSION: Overall, it can be concluded that enteral nutrition supplemented with synbiotics has no statistically significant effect on energy and protein homeostasis and muscle mass maintenance of critically ill patients on day 14, but it can increase enteral feed volume and energy and protein intake during the first 4 days of ICU admission. TRIAL REGISTRATION: The trial protocol has been approved in Iranian Registry of Clinical Trials on March 17, 2019. The registration reference is IRCT20190227042857N1.

Non-Invasive Muscular Atrophy Causes Evaluation for Limb Fracture Based on Flexible Surface Electromyography System.

Muscular atrophy after limb fracture is a frequently occurring complication with multiple causes. Different treatments and targeted rehabilitation procedures should be carried out based on the causes. However, bedside evaluation methods are invasive in clinical practice nowadays, lacking reliable non-invasive methods. In this study, we propose a non-invasive flexible surface electromyography system with machine learning algorithms to distinguish nerve-injury and limb immobilization-related atrophy. First, a flexible surface electromyography sensor was designed and verified by in vitro tests for its robustness and flexibility. Then, in vivo tests on rats proved the reliability compared with the traditional invasive diagnosis method. Finally, this system was applied for the diagnosis of muscular atrophy in 10 patients. The flexible surface electromyography sensor can achieve a max strain of 12.0%, which ensures close contact with the skin. The in vivo tests on rats show great comparability with the traditional invasive diagnosis method. It can achieve a high specificity of 95.28% and sensitivity of 98.98%. Application on patients reaches a relatively high specificity of 89.44% and sensitivity of 91.94%. The proposed painless surface electromyography system can be an easy and accurate supplementary for bedside muscular atrophy causes evaluation, holding excellent contact with the body.

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

BACKGROUND: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China. CASE PRESENTATION: This study reported a novel splicing mutation in the SLC16A2 gene in an 18-month-old male patient with AHDS. The patient was born to non-consanguineous, healthy parents of Chinese origin. He passed new-born screening for hypothyroidism, but failed to reach developmental milestones. He presented with hypotonia, severe mental retardation, dysarthria and ataxia. Genetic analysis identified a novel splicing mutation, NM_006517.4: c.431-2 A > G, in the SLC16A2 gene inherited from his mother. The patient received Triac treatment, (triiodothyroacetic acid), a thyroid hormone analogue for 3 months. Triac treatment effectively reduced serum TSH concentrations and normalized serum T3 concentrations in the patient. CONCLUSIONS: This study reported the first case of AHDS treated by Triac in China. And the study expanded the mutational spectrum of the SLC16A2 gene in AHDS patients.

Development and Evaluation of a Muscle Atrophy Scoring System (MASS) for Horses.

Loss of skeletal muscle mass likely compromises performance and welfare in horses and thus routine monitoring would be valuable. Currently available methods to assess muscle mass require expert knowledge and are often expensive. To provide a simple method, a muscle atrophy scoring system (MASS) was created and tested by three evaluators (raters) in 38 horses of varying age, breed, and health status. Inter-rater agreement on atrophy scores was in the good-to-excellent range for ratings of the neck (ICC = 0.62), back (ICC = 0.62) and hind (ICC = 0.76) regions but was poor for the abdominal region (ICC = 0.29). Due to this low agreement, the abdominal region was excluded from further analysis. Associations between muscle atrophy scores and age, pituitary pars intermedia dysfunction (PPID) status, and body composition indicators, including weight and estimated fat-free mass (FFM), were examined. Weight was inversely associated with neck, back and hind muscle atrophy scores (ß = -0.008, ß = -0.008, ß = -0.009, respectively; all P <0.001), but estimated FFM was not associated with muscle atrophy scores at any region (P >0.05). Age was positively related to neck (ß = 0.030, P <0.01), back (ß = 0.037, P <0.001) and hind (ß = 0.040, P <0.001) muscle atrophy scores. PPID-positive horses (n = 4) had higher muscle atrophy scores than PPID-negative horses (n = 23), even after adjusting for age (P <0.05). This data suggests that neck, back and hind region evaluations by individual raters likely have acceptable reliability. In addition, these findings support further evaluation of the potential benefits of the MASS to identify and monitor muscle atrophy in horses.

Anti-gravity treadmill rehabilitation improves gait and muscle atrophy in patients with surgically treated ankle and tibial plateau fractures after one year: A randomised clinical trial.

OBJECTIVE: To compare the one-year postoperative outcomes of anti-gravity treadmill rehabilitation with those of standard rehabilitation in patients with ankle or tibial plateau fractures. DESIGN: An open-label prospective randomised study. SETTING: Three trauma centres. SUBJECTS: Patients were randomised into the intervention (anti-gravity treadmill) or control (standard protocol) rehabilitation group. MAIN MEASURES: The primary endpoint was changes in the Foot and Ankle Outcome Score for ankle fractures and Knee Injury and Osteoarthritis Outcome Score for tibial plateau fractures from baseline to 12 months after operation. Secondary endpoints were the subscores of these scores, muscle atrophy (leg circumference at 20 cm above and 10 cm below the knee joint) and the Dynamic Gait Index. RESULTS: Initially, 73 patients (37 vs 36) underwent randomisation. After 12 months, 29 patients in the intervention group and 24 patients in the control group could be analysed. No significant difference was noted in the Foot and Ankle Outcome Score (80.8 ± 18.4 and 78.4 ± 21.1) and Knee Injury and Osteoarthritis Outcome Score (84.8 ± 15.2 and 81.7 ± 17.0). The change in the Dynamic Gait Index from 12 weeks to 12 months differed significantly between the groups (P = 0.04). Patients with tibial plateau fractures had a 3 cm wider thigh circumference in the intervention group than those in the control group (95% confidence interval: -0.2 to 6.3 cm, P = 0.08). CONCLUSION: One year after surgery, patients who had undergone anti-gravity treadmill rehabilitation showed better gait than patients in the control group, and those with tibial plateau fractures had less muscle atrophy.