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Background Coronal imbalance in degenerative scoliosis is common and is highly correlated with health-related quality of life. Paraspinal muscle is critical to spine stability, but little is known about its contribution to coronal imbalance in degenerative scoliosis. This study aims to investigate the relationship between paraspinal muscle (PSM) degeneration and coronal imbalance in patients with degenerative scoliosis (DS). Methods This is a retrospective cohort study. A total of 117 patients with DS were retrospectively reviewed. Parameters of PSM (bilateral cross-sectional area, CSA; fat infiltration rate, FI%) at the apical disc and adjacent levels were quantitatively evaluated using MRI. Standing whole-spine radiograph was used to evaluate the coronal (Cobb angle, CA; coronal balance distance, CBD) and sagittal (thoracic kyphosis, TK; lumbar lordosis, LL; sagittal vertical axis, SVA) parameters. Patients were divided into 3 groups: coronal balanced (Type A), coronal imbalanced shifting to concavity (Type B), and coronal imbalanced shifting to convexity (Type C). Results Based on our criteria, 56 patients were assigned to Type A, 34 patients to Type B, and 27 patients to Type C. There was no significant difference on the sagittal profiles and CSA between the groups. However, Type A showed significantly lower FI% than Type B and Type C on both concavity and convexity (Concave side: Type A vs. Type B vs. Type C, 30.8±8.1 vs. 45.1±7.7 vs. 38.7±12.5, P=0.001; Convex side: Type A vs. Type B vs. Type C, 32.6±10.9 vs. 46.3±7.3 vs. 40.7±11.8, P=0.004). Specifically, Cobb angle was negatively correlated with CSA, mainly at convexity (R=−0.415, P=0.008). Similarly, the increase of CBD significantly correlated with FI% at concavity (R=0.491, P=0.001) and convexity (R=0.354, P=0.025). Conclusions DS patients with coronal imbalance demonstrated a worse PSM degeneration when compared with those without coronal imbalance. Besides, PSM degeneration strongly correlated with coronal imbalance, which implies that PSM degeneration may contribute to the coronal imbalance in patients with DS.

Birt–Hogg–Dubé syndrome (BHDS, MIM #135150), caused by germline mutations of FLCN gene, is a rare autosomal dominant inherited disorder characterized by skin fibrofolliculomas, renal cancer, pulmonary cysts and spontaneous pneumothorax. The syndrome is considered to be under-diagnosed due to variable and atypical manifestations. Herein we present a BHDS family. Targeted next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) revealed a novel FLCN intragenic deletion spanning exons 10-14 in four members including the proband with pulmonary cysts and spontaneous pneumothorax, one member with suspicious skin lesions and a few pulmonary cysts, as well as two asymptomatic family members. In addition, a linkage analysis further demonstrated one member with pulmonary bullae to be a BHDS-ruled-out case, whose bullae presented more likely as an aspect of paraseptal emphysema. Furthermore, the targeted NGS and MLPA data including our previous and present findings were reviewed and analyzed to compare the advantages and disadvantages of the two methods, and a brief review of the relevant literature is included. Considering the capability of the targeted NGS method to detect large intragenic deletions as well as determining deletion junctions, and the occasional false positives of MLPA, we highly recommend targeted NGS to be used for clinical molecular diagnosis in suspected BHDS patients.

Objective. Degenerative kyphoscoliosis (DKS) is a complex spinal deformity associated with degeneration of bones, muscles, discs, and facet joints. The aim of this study was to establish an animal model of degenerative scoliosis that recapitulates key pathological features of DKS and to validate the degenerative changes in senescence-accelerated mouse prone 8 (SAMP8) mice. Methods. Thirty male mice were divided into 2 groups: 10 bipedal C57BL/6J mice were used as the control group, and 20 bipedal SAMP8 mice were used as the experimental group. Mice were bipedalized under general anesthesia. The incidence of scoliosis and bone quality was determined using radiographs and in vivo micro-CT images 4, 8, and 12 weeks after surgery, respectively. Histomorphological studies of muscle samples were performed after sacrifice at 12 weeks after surgery. Results. On the 12th week, the incidence rates of kyphosis in C57BL/6J and SAMP8 groups were 50% and 100%, respectively. Overall, the incidence and angle of kyphosis were significantly higher in the bipedal SAMP8 group compared to the C57BL/6J group (44.7°± 6.2° vs. 84.3°± 10.3°, P < 0.001 ). Based on 3D reconstruction of the entire spine, degeneration of the intervertebral disc was observed in bipedal SAMP8 mice, including the reduction of disc height and the formation of vertebral osteophytes. The bone volume ratio (BV/TV) was significantly suppressed in the bipedal SAMP8 group compared with the bipedal C57BL/6J group. In addition, HE staining and Mason staining of the paraspinal muscle tissue showed chronic inflammation and fibrosis in the muscles of the bipedal SAMP8 group. Conclusions. The SAMP8 mouse model can be taken as a clinically relevant model of DKS, and accelerated aging of the musculoskeletal system promotes the development of kyphosis.