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Objective: We investigated ultrasound patterns of muscle involvement in different types of spinal muscular atrophy (SMA) and their correlation with functional status to determine the pattern of muscle compromise in patients with SMA and the potential role of ultrasound to evaluate disease progression., Methods: We examined muscles (biceps brachii, rectus femoris, diaphragm, intercostals and thoracic multifidus) of 41 patients with SMA (types 1 to 4) and 46 healthy age- and sex-matched control individuals using B-mode ultrasound for gray-scale analysis (GSA), area (biceps brachii and rectus femoris) and diaphragm thickening ratio. Functional scales were applied to patients only. We analyzed ultrasound abnormalities in specific clinical subtypes and correlated findings with functional status., Results: Compared with controls, patients had reduced muscle area and increased mean GSA for all muscles (p < 0.001), with an established correlation between the increase in GSA and the severity of SMA for biceps brachii, rectus femoris and intercostals (p = 0.03, 0.01 and 0.004 respectively) when using the Hammersmith Functional Motor Scale Expanded. Diaphragm thickening ratio was normal in the majority of patients, and intercostal muscles had higher GSA than diaphragm in relation to the controls., Conclusion: Ultrasound is useful for quantifying muscular changes in SMA and correlates with functional status. Diaphragm thickening ratio can be normal even with severe compromise of respiratory muscles in quantitative analysis, and intercostal muscles were more affected than diaphragm., Competing Interests: Conflict of interest A.L.M. has received financial compensation from General Electric (GE Healthcare) for course teaching. R.H.M. and E.Z. have received financial compensation from Biogen for congress participation and for talks. R.H.M. and E.Z. participate as investigators in clinical trials sponsored by Roche. All other authors declare no competing interests., (Copyright © 2023 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.)

Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. The motor unit number index (MUNIX) is a biomarker used to assess loss of motor units in later-onset SMA patients. Twenty SMA patients (SMA types 3 and 4), aged between 7 and 41 years, were clinically evaluated through the Hammersmith Motor Functional Scale Expanded and the Spinal Muscular Atrophy-Functional Rating Scale. The patients underwent compound motor action potential (CMAP) and MUNIX studies of the right abductor pollicis brevis, abductor digiti minimi and tibialis anterior (TA) muscles. Age-matched healthy controls (n = 20) were enrolled to obtain normative CMAP and MUNIX values from the same muscles. Compared to healthy controls, SMA patients showed significant reductions in MUNIX values among all muscles studied, whereas CMAP showed reductions only in the weaker muscles (abductor digiti minimi and TA). MUNIX variability was significantly higher in the SMA group than in the control group. MUNIX variability in TA correlated with CMAP variability. Motor functional scores correlated with TA MUNIX. The MUNIX study is feasible in later-onset SMA patients, and TA MUNIX values correlate with disease severity in patients with mild motor impairment., Competing Interests: Declaration of Competing Interest RHM and EZ have received financial compensation from Biogen for congress participation and for talks. RHM and EZ participate as investigators in clinical trials sponsored by Roche., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Skeletal muscle involvement as a neurologic manifestation in individuals with HIV is rare, especially as rod myopathy. We describe a 41-year-old male with HIV infection who presented progressive proximal muscle weakness and limb-girdle atrophy. A muscle magnetic resonance image showed bilateral fatty infiltration and post-contrast enhancement in the arm and thigh muscles. The muscle biopsy revealed intracytoplasmic aggregates with appearance of nemaline rod bodies with Gomori trichrome staining and electron microscopy in most fibers. The patient underwent six cycles of intravenous methylprednisolone pulses, presenting clinical improvement. Post-treatment muscle biopsy showed fewer nemaline bodies and muscle magnetic resonance image depicted a pronounced reduction of muscular edema. These findings corroborate that deposition of nemaline bodies in these patients might be related to an immune response triggered by the virus., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Objective: We aimed to perform a longitudinal investigation of the effects of radiotherapy on salivary flow rate, pH, buffering capacity, and protein composition of saliva and on the quality of life of children with Hodgkin disease., Design: Ten children (6-16-year-old) with Hodgkin disease and 10 matched healthy children were investigated. Stimulated and non-stimulated saliva samples were collected at baseline, after 1080 and 2160cGy of radiation, and 1, 2, and 3 months post-radiotherapy. The salivary flow rate was expressed as mL/min. Buffer capacity was determined by titration. Amylase activity, immunoglobulin A, mucin, and lactoferrin concentrations were determined by ELISA. Quality of life was assessed by Quality of Life - Head and Neck module 35 questionnaire., Results: We found that radiotherapy caused hyposalivation at 1080cGy and 1 month after radiotherapy and reduced buffering capacity at 2160cGy. Mucin concentration and amylase activity in non-stimulated saliva increased 1 month after radiotherapy. Lactoferrin concentration increased during and after radiotherapy. Immunoglobulin A concentration increased at 1080cGy, 1 and 2 months, for non-stimulated saliva and at 2160cGy and 1 month for stimulated saliva. Children reported more pain after radiotherapy and more xerostomia during radiotherapy., Conclusion: We concluded that the radiotherapy protocol affected the children's salivary properties and children's quality of life., (Copyright © 2016 Elsevier Ltd. All rights reserved.)