Parkinson's disease (PD) is a neurodegenerative disease, leading to the impairment of movement execution. PD pathogenesis has been largely investigated, either limited to bulk transcriptomic levels or at certain cell types, which failed to capture the cellular heterogeneity and intrinsic interplays among distinct cell types. Here, we report the application of single-nucleus RNA-seq on midbrain, striatum, and cerebellum of the α-syn-A53T mouse, a well-established PD mouse model, and matched controls, generating the first single cell transcriptomic atlas for the PD model mouse brain composed of 46,174 individual cells. Additionally, we comprehensively depicted the dysfunctions in PD pathology, covering the elevation of NF-κB activity, the alteration of ion channel components, the perturbation of protein homeostasis network, and the dysregulation of glutamatergic signaling. Notably, we identified a variety of cell types closely associated with PD risk genes. Taken together, our study provides valuable resources to systematically dissect the molecular mechanism of PD pathogenesis at the single-cell resolution, which facilitates the development of novel approaches for diagnosis and therapies against PD.

Background: In this study, to provide a theoretical basis for understanding the clinical characteristics of epiphyseal fractures in children and improving their management, we explored and analyzed the proportions of different types of epiphyseal fractures in children and evaluated the causes of injury and epidemiological characteristics. Methods: We retrospectively analyzed children younger than 18 years with fresh epiphyseal fractures who were admitted to our hospital from July 2015 to February 2020. Demographic information, injury mechanisms, fracture characteristics, fracture classification and surgical information were collected. Results: A total of 1124 pediatric patients (1147 epiphyseal fractures), including 789 boys and 335 girls, were included in this study. Epiphyseal fractures were classified as Salter-Harris type II (1002 cases), type IV (105 cases), type III (25 cases), Salter-Harris type I (14 cases), and Salter-Harris type V (1 case). The number of fracture sites peaked in the adolescent group (440 cases). The most three common sites of epiphyseal fractures were the distal radius (460 cases) in which Salter-Harris type II fractures were the most common (454 cases) and Salter-Harris type I (3 cases), Salter-Harris type IV (2 cases), Salter-Harris type III was the least common (1 case). Followed by phalanges of fingers (233 cases) in which Salter-Harris type II fractures were the most common (224 cases) and Salter-Harris type IV (4 cases), Salter-Harris type I (3 cases), Salter-Harris type III fractures were the least common (2 cases). Distal humerus (146 cases) in which Salter-Harris type II fractures were the most common (95 cases), followed by Salter-Harris type IV (49 cases), Salter-Harris type I fractures were the least common (2 cases). The most three important causes of fractures were falls (720 patients), car accident injuries (68 patients), and basketball falls (43 patients). Among the 1124 children with epiphyseal fractures, 1058 were treated mainly by surgery and the ratio of open and closed reduction was 1:5.3. Eighty-eight patients showed an interval > 72 h between the injury and the hospital visit. Among these 88 patients, the most common fracture type was distal radial epiphyseal fracture (32 cases), and all fractures were of Salter-Harris type II. Conclusions: The epidemiological characteristics of epiphyseal fractures in children indicate the need to strengthen health and safety education and protective measures to prevent the occurrence of these fractures in children. In addition, emergency surgeons and orthopedic surgeons in general hospitals should strengthen their basic knowledge of diagnosing and treating epiphyseal injuries in children to reduce missed diagnoses, misdiagnoses or malpractice.

To uncover the role of satellite cells (SCs) in paravertebral muscle development and aging, we constructed a single-nucleus transcriptomic atlas of mouse paravertebral muscle across seven timepoints spanning the embryo (day 16.5) to old (month 24) stages. Eight cell types, including SCs, fast muscle cells, and slow muscle cells, were identified. An energy metabolism-related gene set, TCA CYCLE IN SENESCENCE, was enriched in SCs. Forty-two skeletal muscle disease-related genes were highly expressed in SCs and exhibited similar expression patterns. Among them, Pdha1 was the core gene in the TCA CYCLE IN SENESCENCE; Pgam2, Sod1, and Suclg1 are transcription factors closely associated with skeletal muscle energy metabolism. Transcription factor enrichment analysis of the 42 genes revealed that Myod1 and Mef2a were also highly expressed in SCs, which regulated Pdha1 expression and were associated with skeletal muscle development. These findings hint that energy metabolism may be pivotal in SCs development and aging. Three ligand-receptor pairs of extracellular matrix (ECM)-receptor interactions, Lamc1-Dag1, Lama2-Dag1, and Hspg2-Dag1, may play a vital role in SCs interactions with slow/fast muscle cells and SCs self-renewal. Finally, we built the first database of a skeletal muscle single-cell transcriptome, the Musculoskeletal Cell Atlas (http://www.mskca.tech), which lists 630,040 skeletal muscle cells and provides interactive visualization, a useful resource for revealing skeletal muscle cellular heterogeneity during development and aging. Our study could provide new targets and ideas for developing drugs to inhibit skeletal muscle aging and treat skeletal muscle diseases.

Purpose: Over the past 12 years, vertebral body tethering (VBT) has been gradually promoted for treating scoliosis, but there are few published studies, with only short-term follow-up. This study aimed to systematically review VBT efficacy and safety for treating scoliosis. Methods: PubMed, Web of Science, Embase, and the Cochrane Library were searched for studies on VBT treatment of scoliosis published up to November 2021. Two researchers independently screened the literature, extracted data, and assessed the risk of bias in included studies. Data on clinical efficacy, unplanned reoperations, and complications were extracted. The meta-analysis was performed with R 4.1.0. Results: Twenty-six studies involving 1045 patients were included in the meta-analysis. The correction rate of major curve immediately post-operation was 46.6% ± 13.8% (16%–69%) and that at final follow-up was 53.2% ± 17.9% (16%–79%). The single-arm meta-analysis results of all included studies showed that VBT was effective in general. The overall clinical success rate was 73.02% (95% confidence interval [CI]: 68.31%–78.05%). The pooled overall unplanned reoperation rate was 8.66% (95% CI: 5.53%–13.31%). The overall incidence rate of complications was 36.8% (95% CI: 23.9%–49.7%). The subgroup analysis based on follow-up time indicated that patients with follow-up time >36 months had increased clinical success rate, unplanned reoperation rate, and incidence rate of complications compared with those with <36 months’ follow-up time. The preliminary results showed that after 36 months of follow-up, only 7.17% (95% CI: 4.81%–10.55%) of patients required posterior spinal fusion (PSF) surgery and nearly 93% of patients avoided spinal fusion surgeries. Conclusions: The current evidence from at least 3-year follow-up in different countries indicates that VBT is an effective surgical approach for treating scoliosis, with 73.88% of patients achieving clinical success. Nevertheless, about one in seven patients (15.8%) required unplanned reoperations, but only 7.17% required PSF. About half (52.17%) of the patients experienced complications. Due to the limitation of the study number and quality, our conclusion may be biased and requires verification by further studies with longer follow-up times.

Background: Congenital muscular torticollis (CMT) is a common musculoskeletal disease affecting infants and young children. If CMT is not treated correctly and timely, it can lead to limited head and neck movements, head and neck deviation, and abnormal posture. In order to improve patients' symptoms and alleviate the negative impact of the disease on their lives, we are committed to exploring the treatment of CMT. Methods: The general clinical and ultrasonographic data of 2599 children with CMT who received standardized treatment at Shenzhen Children’s Hospital from 2004 to 2020 were retrospectively reviewed. According to given treatment, children with CMT were divided into the physiotherapy group, physiotherapy combined with glucocorticoid treatment group, and surgical treatment group. We divided children with CMT into local mass, uniform thickening, and atrophy according to ultrasound features. General clinical information, treatment, and ultrasound examination data in each group were compared. Additionally, electronic medical records of 2344 patients admitted due to CMT in 17 tertiary children’s hospitals of China’s Futang Research Center of Pediatric Development (FRCPD) from 2015 to 2019 were retrospectively analyzed. Data on sex, age, year of admission and discharge, and treatment costs during hospitalization were extracted from the first medical record pages according to the ICD codes. The data were assessed for normality using the Kolmogorov–Smirnov test. Depending on the data distribution, they were analyzed using parametric tests, such as the t-test, or non-parametric tests. Qualitative data are expressed as percentages (%) and analyzed using the chi-square or Fisher’s exact probability test, with α = 0.05 as the test level. P < 0.05 was considered to be indicative of a statistically significant difference. Results: Three types of CMT were defined based on sternocleidomastoid muscle ultrasound examination characteristics: local mass, uniform thickening, and atrophy. Age at first diagnosis was 69.21 ± 108.41 days in local mass type group, 216.85 ± 324.09 days in uniform thickening group, and 417.88 ± 739.05 days in atrophy- type group; while age at first physiotherapy use was 94.06 ± 206.49 days, 255.00 ± 430.62 days, 540.92 ± 1059.29 respectively. The children included in local mass type group have shown a high success rate of conservative treatment, with a rate of 7.5% of children underwent surgery. Age at first diagnosis was 112.44 ± 224.12 days in the physiotherapy group, 115.87 ± 144.86 days in the physiotherapy combined with glucocorticoid treatment subgroup, whereas the age at first physiotherapy use was 137.38 ± 312.11 and 196.91 ± 344.26 days respectively. In the observation period (2015–2019) the mean age at surgery for CMT in 17 tertiary children’s hospitals of the FRCPD was 50 months. Overall, 663 children with CMT were 1–2 years of age, accounting for the largest proportion (28.3%). Followed by 417 individuals (17.8%) were 7–14 years of age, indicating that there are still more children with CMT receiving surgical treatment later. Conclusions: Early diagnosis and treatment are essential to improve the conservative treatment success rate and achieve good prognosis in children with CMT. Our team’s concept for treating CMT is as follows: after diagnosing the children, we will adopt the standardized protocol of treatment, with physiotherapy combined with the injection of glucocorticoid drugs and SCM release surgery, when needed. This program has a high conservative treatment success rate and may facilitate the achievement of better prognosis and reduced teratogenicity rate.