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Objective To summarize the characteristics of fatty infiltration and edema of muscle MRI in Duchenne muscular dystrophy (DMD) patients. Methods A total of 70 DMD patients underwent Clinical Functional Scale and muscle MRI of the pelvic (gluteus maximus, gluteus medius, gluteus minimus, iliopsoas, piriformis, obturator internus, obturator externus, tensor fasciae latae, pectineus, erector spinae, psoas major muscle, iliacus), thigh (adductor magnus, gracilis, adductor longus, sartorius, rectus femoris, vastus intermedius, vastus medialis, vastus lateralis, biceps femoris, semitendinosus, semimembranosus) and leg (gastrocnemius, soleus, peroneus longus, tibialis posterior, tibialis anterior, flexor hallucis longus, extensor hallucis longus, extensor digitorum longus). T1WI fatty infiltration grade and fat suppression T2WI edema grade were performed to analyze the imaging features of fatty infiltration and edema. Results In 31 muscles, 30 muscles (96.77% ) presented fatty infiltration and 23 (74.19% ) presented edema. The occurrence rate of fatty infiltration was higher than that of edema. A total of 21 muscles including gluteus maximus, were found T1WI fatty infiltration grades greater than 2, and 10 muscles including tibialis posterior, were less than 1. Five muscles including soleus were found fat suppression T2WI edema grade 3. Spearman rank correlation analysis showed positive correlations between T1WI fatty infiltration grade and Clinical Functional Scale in 7 pelvic muscles [gluteus maximus (rs = 0.518, P = 0.016), gluteus medius (rs = 0.528, P = 0.014), gluteus minimus (rs = 0.528, P = 0.014), iliopsoas (rs = 0.695, P = 0.000), piriformis (rs = 0.451, P = 0.040), pectineus (rs = 0.567, P = 0.009), erector spinae (rs = 0.499, P = 0.025)], 7 thigh muscles [adductor magnus (rs = 0.607, P = 0.005), adductor longus (rs = 0.547, P = 0.013), rectus femoris (rs = 0.614, P = 0.004), vastus intermedius (rs = 0.566, P = 0.009), vastus medialis (rs = 0.522, P = 0.018), vastus lateralis (rs = 0.503, P = 0.024), biceps femoris (rs = 0.508, P = 0.022)] and 3 leg muscles [gastrocnemius (rs = 0.715, P = 0.001), peroneus longus (rs = 0.571, P = 0.017), tibialis posterior (rs = 0.514, P = 0.035)]. There was no correlation between T1WI fatty infiltration grade and Clinical Functional Scale in other muscles (P > 0.05, for all). There was no correlation between fat suppression T2WI edema grade and Clinical Functional Scale in all muscles (P > 0.05, for all). Conclusions Fatty infiltration grade can be well used to assess the severity of DMD. The role of muscle edema on assessing clinical severity should be analyzed according to individual muscle characteristics. DOI: 10.3969/j.issn.1672-6731.2018.07.006

Abstract Objective To evaluate different injury factors and pathological characteristics of the brain at different disease stages in toxic milk (TX) mice, an animal model of Wilson's disease (WD). Methods Thirty TX mice (10 each at 3, 6 and 12 months old) and 30 age‐matched C57 mice were used in this study. Corrected phase (CP) values were determined from susceptibility‐weighted images. Myelin content was determined by measuring inhibition optical density values of Luxol fast blue‐stained sections. Neurofilament protein 68 kDa (NF68), β‐amyloid precursor protein (β‐APP), and myelin basic protein (MBP) levels, as well as copper and iron content, in brain nuclei of the TX mouse were evaluated. Gene amplification ratios for catalase (CAT), GSH peroxidase (GSH‐PX), nitric oxide synthase (NOS), and superoxide dismutase (SOD) in mouse brain were also determined. Results Compared with C57 mice, neuronal cell counts were decreased in 12‐months‐old TX mice (p = .011). Myelin content was decreased in the lenticular nucleus (p = .029), thalamus (p = .030), and brainstem (p = .034) of 6‐months‐old TX mice; decreases in the corresponding nuclei (p = .044, .037, and .032, respectively) were also found in 12‐months‐old TX mice. MBP values were lower in the lenticular nucleus and thalamus (p = .027 and .016, respectively) of 6‐months‐old TX mice and in the corresponding nuclei (p = .24 and .040) of 12‐months‐old TX mice. NF‐68 values were lower in the lenticular nucleus and thalamus (p = .034 and .037, respectively) of 6‐months‐old TX mice and in the corresponding nuclei (p = .006 and .012) of 12‐months‐old TX mice. β‐APP values were higher in the thalamus of 6‐months‐old (p = .037) and 12‐months‐old (p = .012) TX mice. Iron content was higher in the lenticular nucleus, thalamus, and cerebellum (p = .044, .038, and .029, respectively) of 6‐months‐old TX mice and in the corresponding nuclei (p = .017, .024, and .029) of 12‐months‐old TX mice. The NOS gene amplification multiple was higher (p = .039), whereas the SOD1 gene amplification multiple was lower (p = .041) in 12‐months‐old TX mice. There was no correlation between metal content or oxidation index and pathological index. Conclusions The pathological characteristics of the brains of TX mice may differ at different ages. Different pathogenic factors, including copper and iron deposition and abnormal oxidative stress, are present at different stages.

Background: The absence of other structural heart disease is a prerequisite for the diagnosis of non-compaction of the ventricular myocardium (NVM). We also observed that the phenomenon of non-compaction in ventricular muscle in some large patent ductus arteriosus (PDA) patients in children. This study was aimed to explore the prognosis of NVM associated with large PDA in children and provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of NVM. Methods: We retrospectively analyzed the clinical data of the patients with the diagnosis of NVM with large PDA from January 2015 to January 2022 who underwent the interventional occlusion. We collected the data of the non-compacted myocardium/compacted myocardium (N/C) ratio, the size of the heart, cardiac function measured on color Doppler echocardiography and electrocardiograph (ECG) before and after interventional occlusion. Results: From a total of 504 patients with large PDA underwent occlusion, 20 patients (3.94%; mean age 1.72 ± 1.44 years, 6males and 14 females) were also diagnosed with NVM. The mean diameter of the pulmonary artery end of the PDA was 7.15 ± 1.19 mm. The N/C ratio of all children significantly improved after PDA interventional occlusion with the decreased trend of LVDd and LVDs. The phenomenon of NVM regressed during the follow-up period: 9 cases(45%) after 1 M, 2 cases(10%) after 3 Ms, 4 cases(20%) after 6Ms, 1 case(5%) after 9Ms, 3 cases(15%) after 12Ms, and 1 case(5%) after 24Ms. However, there was no significant difference in the ejection fraction(EF) at all time points (P > 0.05). During the follow-up, the typical complications of NVM, include congestive heart failure, ventricular arrhythmias and thromboembolic events weren't observed in these patients. Conclusion: The phenomenon of NVM in this group maybe secondary to a large PDA. After the primary factors have been removed, hemodynamic changes and a decrease in the left heart's preload favor the complete regression of the NVM. [ABSTRACT FROM AUTHOR]

Cr3+ activated near‐infrared (NIR) phosphors are getting unprecedented attention to fabricate the broad band NIR light emitting diodes (NIR‐LEDs) for nondestructive detection, bio‐imaging, and night vision. However, it remains a major challenge to obtain ultrabroadband NIR emitting phosphor with excellent quantum yield (QY). Here, a broadband NIR emitting phosphor Mg7Ga2GeO12:Cr3+ (MGGO: Cr3+) ranging from 600 to 1300 nm with an outstanding QY (93%) and large full width of half maximum (FWHM = 226 nm) is developed, in which the site occupancy tendency of Cr3+ in MGGO host is discussed in detail through combining the structure optimization and the first‐principles theory calculation with luminescent properties at low temperature. After that, the emission intensity of MGGO:Cr3+ is improved through partial substitution of Mg2+ by alkaline‐earth ions Ca2+, Sr2+, or Ba2+, and the luminescence enhancement mechanism is also investigated. Furthermore, the NIR pc‐LED device is fabricated by combining 450 nm blue LED chip with the brightest phosphor MGGO:Cr3+/Ba2+, and its potential applications are evaluated in the field of nondestructive detection, night vision, and bio‐imaging. [ABSTRACT FROM AUTHOR]

Objective: To investigate in different stages of patients with Wilson disease (WD), there are different pathogenic factors such as metal deposition, oxidative stress, and inflammatory response in the brain. Methods: A total of 32 untreated WD patients and 10 normal controls were enrolled in the study. The neurological symptoms were evaluated using the modified Young scale. Liver function, metal metabolism, susceptibility-weighted imaging (SWI), diffusion tensor imaging (DTI), and magnetic resonance spectroscopy (MRS) examination were done. The clinical disease stages were divided into metal deposition period, fiber damage period, and neuronal necrosis period according to the imaging results. The content of 24-h urine copper, serum copper, and serum iron; and the levels of catalase (CAT), glutathione peroxidase (GSH-PX), malondialdehyde (MDA), nitric oxide (NO), nitric oxide synthase (NOS), superoxide dismutase (SOD), interleukin (IL-1), and tumor necrosis factor alpha (TNF-α) were detected. Results: The contents of urinary copper in WD patients at neuronal necrosis stage were lower than those in patients at the metal deposition stage (P = 0.011) and fiber injury stage (P = 0.023). The contents of NOS (P = 0.039) and NO (P = 0.047) in WD patients at the stage of fiber injury were higher than those of the normal control, while GSH-PX (P = 0.025) and CAT (P = 0.041) were lower in the neuronal necrosis stage. In the stage of neuronal necrosis, the levels of IL-1 (P = 0.030) and TNF-α were higher than those of the normal control (P = 0.042). The neurological symptom scores in patients with fiber injury (P = 0.013) and neuron injury were higher than those with metal deposition (P = 0.026). Conclusion: There are different pathogenic factors in different stages of WD. At the neuronal necrosis stage, copper deposition was decreased in WD patients. In the stage of fiber injury and neuronal necrosis, there is oxidative stress injury in WD patients. In the neuronal necrosis phase, WD patients have an inflammatory response. [ABSTRACT FROM AUTHOR]

Background: Previous studies have indicated that neurite orientation dispersion and density imaging (NODDI) could be used as a biomarker for detecting microstructural changes of brain.Purpose: To quantitatively evaluate the changes in basal ganglia (BG) and thalamus in Wilson's disease (WD) by NODDI and assess the correlation between parameters and disease severity.Study Type: Prospective case-control study.Population: In total, 24 WD patients and 25 age- and sex-matched normal controls were involved in this study.Field Strength/sequence: EPI diffusion-weighted MR images (b-values = 0, 1000, and 2000 with 30 diffusion gradient directions) were acquired on a 3T scanner.Assessment: Diffusion data were analyzed using voxel-based analysis. NODDI indices including intracellular volume fraction (Vic), orientation dispersion index (ODI), and isotropic volume fraction (Viso) were estimated from the BG and thalamus. The disease severity was assessed by two experienced neurologists based on the Global Assessment Scale (GAS). The relative importance of NODDI indices in diagnosing WD and predictive accuracy were also analyzed.Statistical Testing: The Shapiro-Wilk test, Student's t-test, χ2 test, Mann-Whitney-Wilcoxon test, Spearman rank correlation coefficient analysis and random-forest analysis were used for statistical analyses.Results: The Vic and ODI in the BG and thalamus were significantly lower in WD patients than normal controls, while the Viso in the BG and thalamus were significantly higher (P < 0.01). The Vic in the putamen and ODI in the globus pallidus were negatively correlated with clinical severity (rvic = -0.727, P < 0.001; rodi = -0.705, P < 0.001). The Vic in the putamen was the most valuable predictor for diagnosing WD and the prediction accuracy of NODDI was 95.92%.Data Conclusion: NODDI can effectively evaluate the changes of microstructure and metabolism during copper deposition in WD, and thus, it is likely to be useful in detecting the changes in the brain of this disease and assessing its progression.Level Of Evidence: 2 Technical Efficacy Stage 2 J. MAGN. RESON. IMAGING 2018;48:423-430. [ABSTRACT FROM AUTHOR]

Aims To detect specific oculomotor deficits in preclinical stage of spinocerebellar ataxia type 3 ( SCA3) and evaluate whether these abnormalities prove useful as potential biomarkers of disease progression. Methods A Chinese cohort of 56 patients with SCA3, including 12 preclinical carriers of SCA3 (pre- SCA3) and 44 manifest SCA3, and 26 healthy control individuals were recruited. We performed a detailed investigation on central oculomotor performance including fixation, gaze, smooth pursuit, prosaccade, and antisaccade using video-oculography. Results Common oculomotor features of pre- SCA3 included square-wave jerk during central fixation and gaze holding, impaired vertical smooth pursuit, slow upward saccade, and increased antisaccade error rate. In our SCA3 cohort, all oculomotor parameters were correlated with the score of the Scale for the Assessment and Rating of Ataxia, whilst some of them were correlated with disease duration. Conclusion This study showed that a series of neuropathological changes reflected by oculomotor abnormalities appeared preferentially in preclinical stage of SCA3. Accordingly, objective oculomotor preclinical signs may be useful to detect the optimum time-point for therapeutic interventions in future clinical trials of SCA3. Larger and longitudinal data are warranted to confirm our results. [ABSTRACT FROM AUTHOR]