BACKGROUND: Transosseous distraction osteosynthesis is prioritized in orthopedic care for children with achondroplasia. However, difficulties encountered during treatment and rehabilitation directly impact patients\' quality of life. Using rod external fixators within a semicircular frame for osteosynthesis is less traumatic compared to spoke circular devices. Their straightforward assembly and mounting on the limb segment can help significantly reduce treatment duration, thereby improving children\'s quality of life during treatment and rehabilitation.
OBJECTIVE: This study aimed to conduct a comparative analysis of the quality of life (measured by postoperative pain syndrome, physical activity, and emotional state) among children with achondroplasia undergoing paired limb lengthening using either an external fixator with modified distraction control or a circular multiaxial system developed by the authors.
METHODS: This was an observational, prospective, nonrandomized, and longitudinal study with historical control. The study group consisted of 14 patients ranging from 5 to 15 (mean 7.6, SD 2.3) years old with a genetically confirmed diagnosis of achondroplasia. All patients underwent paired limb lengthening with a rod external fixator and a modified distraction control developed by the authors. A total of 28 limb segments, among them 4 (14%) humeri, 8 (29%) femurs, and 16 (57%) tibias, were lengthened in 1 round. Unpublished data from the previous study served as the control group, comprising 9 patients (18 limb segments) of the same age group (mean age at surgery 8.6, SD 2.3 years), who underwent limb lengthening surgery using a circular multiaxial system-2 (11%) humeri, 6 (33%) femurs, and 10 (56%) tibias. The Wong-Baker Faces Rating Scale was used to measure pain symptoms, while the Russified Pediatric Quality of Life (PedsQL) v4.0 questionnaire assessed quality of life.
RESULTS: During the latent phase (7 to 10 days after surgery), a more pronounced decrease in the indicators of physical activity and emotional state on the PedsQL v4.0 questionnaire was noted in the control group (mean 52.4, SD 4.8 versus mean 52.8, SD 5.5 points according to children\'s responses and their parents\' responses, respectively) compared to the experimental group (mean 59.5, SD 6.8 points and mean 61.33, SD 6.5 points according to the children\'s responses and their parents\' responses, respectively). The differences between the groups were statistically significant (P<.05 for children\'s responses and P<.01 for parents\' responses). Importantly, 6 months after surgery, these quality-of-life indicators, as reported by children in the experimental group, averaged 70.25 (SS 4.8) points. Similarly, their parents reported a mean of 70.54 (SD 4.2) points. In the control group, the corresponding values were 69.64 (SD 5.6) and 69.35 (SD 6.2), respectively. There was no statistically significant difference between the groups.
CONCLUSIONS: The external fixator with modified distraction control developed by the authors provides a higher standard of living compared with the circular multiaxial system during the latency phase.

Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic course of non-neoplastic fibrous tissue buildup in place of healthy bone. A myriad of factors have been associated with its onset and progression. Perturbation of cell-cell signaling networks and response outputs leading to disrupted building blocks, incoherent multi-level organization, and loss of rigid structural motifs in mineralized tissues are factors that have been identified to participate in FD induction. In more recent years, novel insights into the unique biology of FD are transforming our understandings of its pathology, natural discourse of the disease, and treatment prospects. Herein, we built upon existing knowledge with recent findings to review clinical, etiologic, and histological features of FD and discussed known and potential mechanisms underlying FD manifestations. Subsequently, we ended on a note of optimism by highlighting emerging therapeutic approaches aimed at either halting or ameliorating disease progression.

暂无摘要。

Osteosarcoma is a relatively uncommon tumor that is defined histologically by malignant cells developing osteoid. Osteosarcomas are mesenchymal cell tumors that cause abnormal bone growth. A combination of genetic, epigenetic, and environmental factors leads mesenchymal stem cells to develop into bone precursor cells, resulting in osteosarcoma. Only tumor suppressor genes, such as p53, Rb, RECQL4, BLM, and WRN, have been detected in inherited family illnesses with an OS susceptibility. These genes, in particular, play an essential role in the development of OS in individuals. In this research, core genes responsible for OS were determined using a microarray and systems biology. 234 genes encoding overexpression and down-regulation were identified, among which 60 were considered as key genes, many of which had known roles in bone growth. Transcriptional regulatory networks were developed with this data and subsequently partitioned to define cis-regulatory modules. Results indicate that several OS-specific genes have strongly conserved the clustering of bone-related cis-regulatory modules, thus promoting the hypothesis that a bone-related gene network is essential for understanding OS biology and may play a role in bone contractility and anomalies.

Hajdu-Cheney syndrome (HCS) is a rare metabolic bone disorder that results in severe osteoporosis and various skeletal deformities. Craniospinal pathology is commonly associated with it, but surgical management is challenging due to the distorted anatomy, reduced bone strength, and fusion failure due to osteolysis. Hence, the surgical difficulty in these patients requires careful consideration. In this study, we systematically review all published operative cases and complications to provide a comprehensive review pertaining to the spine and/or cranium in patients with HCS. By highlighting these cases and their associated complications, we aim to prepare practitioners who treat this difficult pathology.

UNASSIGNED: Disorders in bone metabolism have long been recognized as typical sequelae of gastrectomy; however, the pathogenesis has not been fully elucidated, resulting in a variation of reported incidence. This study aimed to evaluate current bone health by measuring bone mineral density (BMD) in patients treated by gastrectomy for gastric cancer, with a focus on incidence and risk factors of osteoporosis.
UNASSIGNED: The study enrolled 81 patients who underwent gastrectomy for gastric cancer at Kochi Medical School. BMD of the lumbar spine was measured by dual-energy X-ray mineral absorptiometry, with the results expressed as a percentage of the young adult mean (YAM). Clinical data were also obtained to investigate associations with BMD.
UNASSIGNED: Of the 81 study patients, 12 (14.8%) were deemed to have osteoporosis, defined by a percentage of YAM <70, with a dominance of females over males (66.7% vs 17.4%; P < 0.001). The median body weight, hemoglobin concentration, and serum alkaline phosphatase (ALP) level of the patients with osteoporosis was significantly lower than in those with a percentage of YAM ≥70 group (39.6 kg vs 53.1 kg, P < 0.001; 10.9 mg/dL vs 12.5 mg/dL, P = 0.010; 210 U/L vs 251 U/L, P = 0.002). Further analyses revealed a significant positive correlation between body weight and percentage of YAM (r = 0.441, P < 0.001). Despite the administration of bisphosphonates in these patients during this study, one acquired a bone fracture.
UNASSIGNED: Osteoporosis was found in 14.8% of postoperative gastric cancer patients, with female gender, low body weight, and low ALP proposed as risk factors for osteoporosis and thus future bone fracture.

As a worldwide aging population is on the rise, osteoporosis (OS) is becoming a global health burden. Therefore, many researchers and health authorities are looking into the potential prevention and treatment of OS. Although previously regarded as two separate pathological processes, diabetes (DM) and OS are now regarded as two conditions that can occur together. It is now believed that OS can develop as a complication of DM. This relationship is further evidenced through a reduction in bone mineral density in type-1 diabetes with a resulting increased risk of fracture. Although bone mineral density in type-2 diabetes mellitus is normal or increased, there is also increased fragility due to decreased bone quality. These abnormal bone qualities tend to occur through the production of reduced bone microvasculature and advanced glycation end product, AGE. Interestingly, one of the most common treatments for DM, metformin (MF), shows a promising result on the protection of diabetes and non-diabetes related bone turnover. It is believed that MF modulates its effect through the adenosine monophosphate-activated protein kinase (AMPK) pathway. Recent data regarded AMPK as a vital mediator of homeostasis. It is involved not only in glucose metabolism but also in osteogenesis. AMPK can directly influence the production of mature and good quality bone by decreasing osteoclasts, increasing osteoblast formation, and enhancing bone mineral deposition. As an activator of AMPK, MF also upregulates osteogenesis. Furthermore, MF can influence osteogenesis through a non-AMPK pathway, such as the fructose 1-6 phosphatase pathway, by reducing glucose levels. While already recognized as a safe and effective treatment for DM, this article discusses whether MF can be used for the prevention and treatment of OS.

Postmenopausal osteoporosis (PMOP) is a frequent bone disorder responsible for an increased risk of disability to millions of individuals in the world. For identifying novel and effective targets to treat this disease, it is essential to explore the underlying molecular mechanisms. MicroRNAs (miRNAs) have been widely investigated due to their involvement in the pathophysiology of bone loss. In this study, we attempted to elucidate the role of miR-301-b in murine osteoclastogenesis. We found that miR-301-b expression was increased in the bone tissues from PMOP patients, along with up-regulated nuclear factor of activated T cells c1 (NFATC1), which were confirmed in ovariectomy (OVX)-induced mouse bone specimens and bone marrow-derived macrophages (BMMs). Osteoclastogenesis was found to be obviously suppressed by miR-301-b inhibitor, whereas being further promoted in BMMs transfected with miR-301-b mimic. The animal studies showed that osteoclastic miR-301-b knockout markedly up-regulated the bone mass by reducing osteoclastogenesis. Mechanistically, we found that cylindromatosis (CYLD) was a direct target of miR-301-b at the post-transcriptional level during osteoclastogenesis. The enhanced expression of CYLD led to a reduction of phosphorylated nuclear factor κB (NF-κB), along with remarkably decreased tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β). Finally, osteoclastic miR-301-b ablation evidently inhibited OVX-induced osteoclastogenesis, exhibiting protective effects against bone loss in rodent animals. Therefore, results in the study reported an important mechanism for osteoclastogenesis progression regulated by miR-301-b/CYLD/NF-κB pathway, which may be an effective therapeutic target for PMOP treatment.

Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic controversy around OI genotype-phenotype correlations. In the current study, 94 Ukrainian OI families were interviewed. Clinical and genealogical information was collected from patients in spoken form, and their phenotypes were described. To identify the spectrum of collagen I pathogenic variants, COL1A1/2 mutational analysis with Sanger sequencing was performed on the youngest affected individual of every family. Of the 143 patients investigated, 67 (46.85%) had type I OI, 24 (16.78%) had type III, 49 (34.27%) had type IV, and III (2.10%) had type V. The mean number of fractures suffered per patient per year was 1.32 ± 2.88 (type I 0.50 ± 0.43; type III 3.51 ± 6.18; type IV 1.44 ± 1.77; and type 5 0.77 ± 0.23). 87.23% of patients had skeletal deformations of different severity. Blue sclera, dentinogenesis imperfecta, and hearing loss were present in 87%, 55%, and 22% of patients, respectively. COL1A1/2 pathogenic variants were harbored by 60 patients (63.83%). 27 pathogenic variants are described herein for the first time. The majority of the pathogenic variants were located in the COL1A1 gene (76.19%). Half (49.21%) of the pathogenic variants were represented by structural variants. OI phenotype severity was highly correlated with type of collagen I defect. The current article presents an analysis of the clinical manifestations and COL1A1/2 mutational spectrum of 94 Ukrainian OI families with 27 novel COL1A1/2 pathogenic variants. It is hoped that this data and its analysis will contribute toward the increased understanding of the phenotype development and genetics of the disorder.

UNASSIGNED: This study aimed to select prescriptions (mixtures of medicinal herbs) used in the treatment of bone and joint disorders in Korean medicine, and through the analysis of medicinal herb combination frequencies, select a high-frequency medicinal herb combination group for further experimental and clinical research.
UNASSIGNED: We systematically searched for terms related to bone and joint disorder in the \"Dongeuibogam (Dong yibaojian)\", a seminal Korean medicine book. We reviewed the results of published papers regarding the effects in bone and joint disorders (especially in osteoporosis, osteomalacia, osteopenia, rheumatoid arthritis, and degenerative arthritis).
UNASSIGNED: In total, 34 candidates of a medicinal herb combination for the treatment of bone and joint disorders(CMHCTBJDs) and nine candidates of a medicinal herb for the treatment of bone and joint disorders(CMHTBJDs) were selected.
UNASSIGNED: : The candidates of a medicinal herb combination for the treatment of bone and joint disorders (CMHCTBJDs) and candidates of a medicinal herb for the treatment of bone and joint disorders(CMHTBJDs) proposed in this study can be useful material for text mining to develop natural products with the effects in BJDs and also it has the potential to reduce the experimental and developmental time period.