[Mechanism of mitochondrial dysfunction in polycystic ovary syndrome and traditional Chinese medicine intervention: a review].

Polycystic ovary syndrome(PCOS) is a highly prevalent endocrine and reproductive disorder characterized by ovulatory dysfunction, hyperandrogenism(HA), and polycystic ovarian morphology(PCOM). It is often accompanied by insulin resistance(IR), obesity, and metabolic disorders and can lead to cardiovascular diseases, endometrial carcinoma and many other late complications, seriously affecting the physical and mental health and quality of life in premenopausal women. The etiology of PCOS is still unknown and many scholars assume that mitochondrial dysfunction may represent a major pathogenic factor in PCOS in recent years. With a holistic view, treatment based on syndrome differentiation, and multi-system and multi-target treatment manner, traditional Chinese medicine(TCM) can mitigate the symptoms and signs of PCOS from multiple aspects. Although there have been reviews on the mechanism of mitochondrial dysfunction in PCOS, there is still a lack of reviews on the intervention of mitochondrial function by TCM to treat PCOS. Therefore, this paper focuses on the role of mitochondrial dysfunction in PCOS and summarizes the studies about the TCM intervention of PCOS by regulating the mitochondrial function, inflammation, oxidative stress(OS), autophagy, and apoptosis in the last five years, aiming to shed new light on the prevention and treatment of PCOS with TCM.

Surgical Treatment of Cervical Kyphosis and Atlantoaxial Dislocation in a Child With Loeys-Dietz Syndrome: A Case Report and Literature Review.

We report the case of a 3-year-old child with Loeys-Dietz syndrome, a rare genetic connective tissue disorder. The young girl had concurrent cervical kyphosis, atlantoaxial dislocation (AAD), and spinal cord compression. Posterior occipitocervical fusion was performed. Postoperative examination and clinical manifestations confirmed that all pedicle screws were satisfactorily placed, cervical kyphosis and AAD were corrected, and spinal cord compression was relieved. At the 1-year postoperative follow-up, the patient had recovered well, indicating that our operation was successful. To the best of our knowledge, this is the first reported surgical case of cervical kyphosis and AAD caused by Loeys-Dietz syndrome.

Premature ovarian insufficiency: a review on the role of oxidative stress and the application of antioxidants.

Normal levels of reactive oxygen species (ROS) play an important role in regulating follicular growth, angiogenesis and sex hormone synthesis in ovarian tissue. When the balance between ROS and antioxidants is disrupted, however, it can cause serious consequences of oxidative stress (OS), and the quantity and quality of oocytes will decline. Therefore, this review discusses the interrelationship between OS and premature ovarian insufficiency (POI), the potential mechanisms and the methods by which antioxidants can improve POI through controlling the level of OS. We found that OS can mediate changes in genetic materials, signal pathways, transcription factors and ovarian microenvironment, resulting in abnormal apoptosis of ovarian granulosa cells (GCs) and abnormal meiosis as well as decreased mitochondrial Deoxyribonucleic Acid(mtDNA) and other changes, thus accelerating the process of ovarian aging. However, antioxidants, mesenchymal stem cells (MSCs), biological enzymes and other antioxidants can delay the disease process of POI by reducing the ROS level in vivo.

Posterior Atlantoaxial Fusion With C1-2 Pedicle Screw Fixation for Atlantoaxial Dislocation in Pediatric Patients With Mucopolysaccharidosis IVA (Morquio a Syndrome): A Case Series.

OBJECTIVE: To investigate the efficacy and safety of posterior atlantoaxial fusion (AAF) with C1-2 pedicle screw fixation for atlantoaxial dislocation (AAD) in pediatric patients with mucopolysaccharidosis IVA (MPS IVA). METHODS: This study included 21 pediatric patients with MPS IVA who underwent posterior AAF with C1-2 pedicle screw fixation. Anatomical parameters of the C1 and C2 pedicle were measured on preoperative computed tomography (CT). The American Spinal Injury Association (ASIA) scale was used to evaluate the neurological status. The fusion and accuracy of pedicle screw was assessed on postoperative CT. Demographic, radiation dose, bone density, surgical, and clinical data were recorded. RESULTS: Patients reviewed included 21 patients younger than 16 years with an average age of 7.4 ± 4.2 years and an average of 20.9 ± 7.7 months follow-up. Fixation of 83 C1 and C2 pedicle screws was performed successfully and 96.3% of them were identified as being safe. One patient developed postoperative transient disturbance of consciousness and one developed fetal airway obstruction and died about 1 month after the surgery. Out of the remaining20 patients, fusion was achieved, symptoms were improved, and no other serious surgical complications were observed at the latest follow-up. CONCLUSIONS: Posterior AAF with C1-2 pedicle screw fixation is effective and safe for AAD in pediatric patients with MPS IVA. However, the procedure is technically demanding and should be performed by experienced surgeons with strict multidisciplinary consultations.

Comparison of structural occipital and iliac bone grafts for instrumented atlantoaxial fusions in pediatric patients: Radiologic research and clinical outcomes.

Background: Structural autografts harvested from the iliac bone have been used in atlantoaxial fusion; they have been the gold standard for years. However, emerging occipital bone grafts have the advantage of avoiding donor-site morbidity and complications. Thus, we compared the clinical outcomes of structural autografts from the occipital bone or iliac crest and discussed the clinical significance of occipital bone grafts in pediatric patients. Methods: Pediatric patients who underwent posterior fusion using occipital bone grafts (OBG) or iliac bone grafts (IBG) between 2017 and 2021 were included in this study. Data on clinical outcomes, including operation time, estimated blood loss, length of hospitalization, complications, fusion rate, and fusion time, were collected and analyzed. Additionally, 300 pediatric patients who underwent cranial computed tomography scans were included in the bone thickness evaluation procedure. The central and edge thicknesses of the harvested areas were recorded and analyzed. Results: Thirty-nine patients were included in this study. There were no significant differences in patient characteristics between the OBG and IBG groups. Patients in both groups achieved a 100% fusion rate; however, the fusion time in the OBG group was significantly longer than that in the IBG group. Estimated blood loss, operation time, and length of hospitalization were significantly lower in the OBG group than those in the IBG group. The surgery-related complication rate was lower, but not significantly, in the OBG group than that in the IBG group. For occipital bone thickness evaluation, a significant difference in the central part of the harvesting area was found between the young and old groups, with no significant sex differences. Conclusion: The use of OBG for atlantoaxial fusion is acceptable for pediatric patients with atlantoaxial dislocation, avoiding donor-site morbidity and complications.

Sclerosing epithelioid fibrosarcoma of the lumbar spine: a case report and review of the literature.

Sclerosing epithelioid fibrosarcoma (SEF) is a rare soft tissue tumour subtype, and those arising from the spine are even rarer. To the best of our knowledge, only 3 cases with the spine as the primary site of SEF have been previously reported. We report a 61-year-old female who presented with backache and bilateral leg numbness for 3 years, worsened over the last three months. Pathological fracture of the L1 vertebra was detected, and soft tissue density in the spinal canal and left vertebral body margin was also seen on contrast CT. She underwent tumour resection via a posterior approach, decompression, bone grafting, fusion, and internal fixation. Histology confirmed the diagnosis of SEF.

Single-Stage Posterior Approach for Multilevel Cervical Ossification of the Posterior Longitudinal Ligament With K-line (-) Using Thick Cervical Pedicle Screw System: A Technical Note and Preliminary Results.

STUDY DESIGN: Technical note, retrospective case series. OBJECTIVE: The optimal surgical strategy for multilevel cervical ossification of the posterior longitudinal ligament (OPLL) with a negative kyphosis line (K-line (-)) remains controversial. We present a novel single-stage posterior approach that converts the K-line from negative to positive in patients with multilevel cervical OPLL, using a posterior thick cervical pedicle screw (CPS) system and report the procedure's outcomes and feasibility. METHODS: Twelve consecutive patients with multilevel cervical OPLL and K-line (-) underwent single-stage posterior thick CPS fixation, with laminectomy and foraminal decompression. A pre-bent rod was installed to convert the K-line from negative to positive. Radiographic parameters, including the extent and occupying ratio of OPLL and the C2-C7 angle, were examined. CPS accuracy was assessed using computed tomography. The Japanese Orthopaedic Association (JOA) and visual analog scale (VAS) scores were analyzed. Quality of life was assessed using the Neck Disability Index (NDI). The mean OPLL extent was 5 vertebral body levels, and posterior decompression was performed on 4.2 segments. RESULTS: The average C2-C7 angle and the occupying ratio of OPLL improved from -9.0° to 14.3° and from 63% to 33%, respectively. The preoperative JOA, VAS, and NDI scores significantly improved from 8.4 to 13.3, from 7.1 to 2.2, and from 21.9 to 9.3, respectively. The K-line was converted from negative to positive in all cases. No severe complications were identified. CONCLUSION: Single-stage posterior surgery with a thick CPS system may be a reliable and effective treatment for multilevel cervical OPLL and K-line (-).

The Application of Complementary and Alternative Medicine in Polycystic Ovary Syndrome Infertility.

Polycystic ovary syndrome (PCOS) is a lifelong reproductive endocrine disease, which is the most common cause of anovular infertility. Modern medicine mainly treats infertile patients with PCOS by improving living habits, ovulation induction therapy, and assisted reproductive technology (ART), but the effect is not satisfied. Complementary alternative medicine (CAM) has conspicuous advantages in the treatment of PCOS infertility due to its good clinical efficacy, wide mechanism of action, and no obvious adverse reactions, but its safety and effectiveness in the treatment of PCOS infertility have not been proved. Based on the existing clinical and experimental studies, this paper looks for the therapeutic effect and the mechanism behind it, and explores the safety and effectiveness of its treatment in PCOS infertility, in order to provide reference for future clinical treatment and experimental research.

Naringin Inhibits Apoptosis Induced by Cyclic Stretch in Rat Annular Cells and Partially Attenuates Disc Degeneration by Inhibiting the ROS/NF-κB Pathway.

Oxidative stress and apoptosis play important roles in the pathogenesis of various degenerative diseases. Previous studies have shown that naringin can exert therapeutic effects in multiple degenerative diseases by resisting oxidative stress and inhibiting apoptosis. Although naringin is effective in treating degenerative disc disease, the underlying mechanism remains unclear. This study is aimed at investigating the effects of naringin on oxidative stress, apoptosis, and intervertebral disc degeneration (IVDD) induced by cyclic stretch and the underlying mechanisms in vitro and in vivo. Abnormal cyclic stretch was applied to rat annulus fibrosus cells, which were then treated with naringin, to observe the effects of naringin on apoptosis, oxidative stress, mitochondrial function, and the nuclear factor- (NF-) κB signaling pathway. Subsequently, a rat model of IVDD induced by dynamic and static imbalance was established to evaluate the effects of naringin on the degree of degeneration (using imaging and histology), apoptosis, and oxidative stress in the serum and the intervertebral disc. Naringin inhibited the cyclic stretch-induced apoptosis of annulus fibrosus cells, reduced oxidative stress, improved mitochondrial function, enhanced the antioxidant capacity, and suppressed the activation of the NF-κB signaling pathway. Additionally, it reduced the degree of IVDD (evaluated using magnetic resonance imaging) and the level of oxidative stress and inhibited apoptosis and p-P65 expression in the intervertebral discs of rats. Thus, naringin can inhibit cyclic stretch-induced apoptosis and delay IVDD, and the underlying mechanism may be related to the inhibition of oxidative stress and activation of the NF-κB signaling pathway. Naringin may be an effective drug for treating degenerative disc disease.

Cervical spine involvement in pediatric mucopolysaccharidosis patients: Clinical features, early diagnosis, and surgical management.

Mucopolysaccharidosis (MPS) is a progressive genetic disease that causes a deficiency in lysosomal enzymes, which play an important role in the degradation pathway of glycosaminoglycans. As a result of enzyme defects, mucopolysaccharides cannot be metabolized and thus accumulate. The cervical spine is one of the most commonly involved sites; thus, prompt surgical management before the onset of severe neurological deterioration is critical. However, because of the rarity of the disease, there is no standard treatment. In this review, we characterize the cervical spinal involvement in pediatric patients with MPS, describe the useful imaging technologies for diagnosis, and provide screening procedure for children with MPS. Surgical managements, including indications, surgical methods, possible difficulties, and solutions, are reviewed in detail.

LncRNA LINC00588 Suppresses the Progression of Osteosarcoma by Acting as a ceRNA for miRNA-1972.

Long non-coding RNAs (lncRNAs) are being found to play an increasingly important role in the development of tumors. However, their biological functions and the underlying mechanisms remain unclear. Using information from GEO Datasets, we found that the lncRNA LINC00588 was downregulated in osteosarcoma (OS) in bone but was upregulated in the metastatic tumor present in the lung. We assessed the function of LINC00588 using both overexpression and knock-out studies. We performed colony formation assay, CCK-8 assay, flow cytometry, wound healing assay, transwell assay, and RT-qPCR assay and used a xenograft model to investigate the influence of LINC00588 on cell proliferation, viability, cell apoptosis and cycle, migration, invasion, endothelial cell function, EMT (epithelial to mesenchymal transition), and tumor growth, respectively. Overexpression of LINC00588 appeared to inhibit cell proliferation, viability, migration, invasion, endothelial cell function, EMT, and tumor growth but not apoptosis, while we got the opposite result when we knocked down LINC00588. Next, we predicted that LINC00588 bound to miRNA-1972 and significantly downregulated its expression, which we then verified through a luciferase reporter assay. Subsequently, we knocked down miR1972 and performed CCK-8 and transwell assays to demonstrate that downregulation of miRNA-1972 could substantially inhibit the viability and invasion of osteosarcoma cells. The expression of TP53 was downregulated at the protein level but not at the mRNA level after the overexpression of miRNA-1972. Taken together, our findings indicate that LINC00588 plays a role in OS development by downregulating the expression of miRNA-1972, which can, in turn, inhibit the expression of TP53. Hence, we believe that the LINC00588/miRNA-1072/TP53 axis could potentially serve as a therapeutic target or diagnostic biomarker for osteosarcoma.

Efficacy and Safety of Atlantoaxial Fluoroscopy-guided Pedicle Screw Fixation in Patients Younger Than 12 Years: A Radiographic and Clinical Assessment.

STUDY DESIGN: A retrospective clinical study. OBJECTIVE: The aim of this study was to evaluate the efficacy and safety of fluoroscopy-guided atlantoaxial pedicle screw fixation in patients younger than 12 years. SUMMARY OF BACKGROUND DATA: C1-C2 pedicle screw fixation is a widely accepted treatment method for atlantoaxial dislocation (AAD). However, data regarding its use for atlantoaxial fusion (AAF) in children are limited. METHODS: Thirty-six consecutive patients younger than 12 years underwent C1-C2 pedicle screw fixation for AAD between 2007 and 2017. Anatomical parameters of the C1 pedicle were measured on preoperative computed tomography (CT). Accuracy of pedicle screw fixation was assessed on postoperative CT using the following definitions: Type I, screw threads completely within the bone; Type II, less than half the diameter of the screw violating the surrounding cortex; and Type III, clear violation of the transverse foramen or spinal canal. Demographic, surgical, radiation dose, and clinical data were recorded. RESULTS: Patients underwent 144 screw fixations (67 C1 pedicle screws, 68 C2 pedicle screws, 5 C1 lateral mass screws, and 4 C-2 laminar screws) for a variety of pediatric AADs, with 36.5 ±â€Š8.5 months of follow-up. Among the 135 pedicle screws, 96.3% were deemed "safe" (Type I or II) and 80.7% (109/135) of the screws were rated as being ideal (Type I); five screws (3.7%) were identified as unacceptable (Type III). Average estimated blood loss (EBL) was 92 mL, and the average total radiation exposure during the operation was 6.2 mGy (in the final 26 cases). There were no neurovascular injuries. All patients showed radiographic stability and symptom resolution. CONCLUSION: C1-C2 pedicle screw fixation under fluoroscopy is safe and effective for the treatment of AAD in children younger than 12 years. However, it may be technically challenging owing to the special anatomical features of children and should be performed by experienced surgeons. LEVEL OF EVIDENCE: 3.

Lentivirus Is an Efficient and Stable Transduction Vector for Intervertebral Disc Cells.

OBJECTIVE: To evaluate transduction efficacy and sustainability of lentiviral vector for intervertebral disc cells both in vitro and in vivo. METHODS: Human nuclear pulposus and anulus fibrosus cells isolated from disc tissue of 28 patients during surgical disc procedures were cultured and subsequently transduced using recombinant lentivirus carrying a gene for enhanced green fluorescent protein at multiplicities of infection of 0, 15, 30, 60, 90, and 150. Cell viability was determined using the trypan blue exclusion test. Transduction efficiency was measured by fluorescence-activated cell sorting analysis. In vivo experiments were done by injecting lentivirus into rat intervertebral discs. Disc tissue was harvested 7, 14, 21, and 28 days after transduction, and enhanced green fluorescent protein expression was examined using an inverted fluorescent microscope. RESULTS: Intervertebral disc cells transduced with different doses of lentivirus showed equally good viabilities compared with cells in the control group, as determined by cell morphology and growth curves after transduction. The transduction ratio for disc cells after transduction reached its optimum of 97% at 60 multiplicities of infection, independent of patient age, sex, surgical procedure, diagnosis, disc level, or degeneration grade. In vivo frozen sections revealed that enhanced green fluorescent protein expression peaked on the 7th day and remained detectable the 28th day after transduction. No significant systemic symptoms were observed during the in vivo experiment. CONCLUSIONS: Lentivirus appears to be an efficient and stable transduction vector for intervertebral disc cells. It has potential as a gene therapy tool for treating human degenerative disc disease.

Naringin inhibits vascular endothelial cell apoptosis via endoplasmic reticulum stress­ and mitochondrial­mediated pathways and promotes intraosseous angiogenesis in ovariectomized rats.

In this study, to investigate the effects of naringin on vascular endothelial cell (VEC) function, proliferation, apoptosis, and angiogenesis, rat VECs were cultured in vitro and randomly divided into four groups: control, serum­starved, low­concentration naringin treatment, and high­concentration naringin treatment. MTT assay was used to detect cell proliferation while Hoechst 33258 staining and flow cytometry were used to detect apoptosis. Changes in the expression of apoptosis­associated proteins [GRP78, CHOP, caspase­12, and cytochrome c (Cyt.c)] were detected using western blotting. JC­1 staining was employed to detect changes in mitochondrial membrane potential. Intracellular caspase­3, ­8, and ­9 activity was determined by spectrophotometry. ELISA was used to detect endothelin (ET), and a Griess assay was used to detect changes in the expression of nitric oxide (NO) in culture medium. The study further divided an ovariectomized (OVX) rat model of osteoporosis randomly into four groups: OVX, sham­operated, low­concentration naringin treatment (100 mg/kg), and high­concentration naringin treatment (200 mg/kg). After 3 months of treatment, changes in serum ET and NO expression, bone mineral density (BMD), and microvessel density of the distal femur (using CD34 labeling of VECs) were determined. At each concentration, naringin promoted VEC proliferation in a time­ and dose­dependent manner. Naringin also significantly reduced serum starvation­induced apoptosis in endothelial cells, inhibited the expression of GRP78, CHOP, caspase­12, and Cyt.c proteins, and reduced mitochondrial membrane potential as well as reduced the activities of caspase­3 and ­9. Furthermore, naringin suppressed ET in vitro and in vivo while enhancing NO synthesis. Distal femoral microvascular density assessment showed that the naringin treatment groups had a significantly higher number of microvessels than the OVX group, and that microvascular density was positively correlated with BMD. In summary, naringin inhibits apoptosis in VECs by blocking the endoplasmic reticulum (ER) stress­ and mitochondrial­mediated pathways. Naringin also regulates endothelial cell function and promotes angiogenesis to exert its anti­osteoporotic effect.

Comparison Perioperative Factors During Minimally Invasive Pre-Psoas Lateral Interbody Fusion of the Lumbar Spine Using Either Navigation or Conventional Fluoroscopy.

STUDY DESIGN: Retrospective clinical study. OBJECTIVES: The aim of this study was to compare intraoperative conditions and clinical results of patients undergoing pre-psoas oblique lateral interbody fusion (OLIF) using navigation or conventional fluoroscopy (C-ARM) techniques. METHODS: Forty-two patients (22 patients by navigation and 20 by fluoroscopy) underwent the OLIF procedure at 2 medical centers, and records were reviewed. Clinical data was collected and compared between the 2 groups. Patients were followed-up with a range of 6 to 24 months. RESULTS: There were no significant differences on demographic data between groups. The navigation group had zero radiation exposure (RE) to the surgeon and radiation time compared to the C-ARM group, with total RE of 44.59 ± 26.65 mGy and radiation time of 88.30 ± 58.28 seconds (P < .05). The RE to the patient was significantly lower in the O-ARM group (9.38 mGy) compared to the C-ARM group (44.59 ± 26.65 mGy). Operating room time was slightly longer in the navigation group (2.49 ± 1.35 hours) compared to the C-ARM group (2.30 ± 1.17 hours; P > .05), although not statistically significant. No differences were found in estimated blood loss, length of hospitalization, surgery-related complications, and outcome scores with an average of 8-month follow-up. CONCLUSIONS: Compared with C-ARM techniques, using navigation can eliminate RE to surgeon and decrease RE to the patient, and it had no significant effect on operating time, estimated blood loss, length of hospitalization, or perioperative complications in the patients with OLIF procedure. This study shows that navigation is a safe alternative to fluoroscopy during the OLIF procedure in the treatment of degenerative lumbar conditions.

C1-C2 Pedicle Screw Fixation for Atlantoaxial Dislocation in Pediatric Patients Younger than 5 Years: A Case Series of 15 Patients.

OBJECTIVE: C1-C2 pedicle screw fixation has become popular for providing excellent bony purchase and avoiding neurovascular complications. However, it may be technically challenging in children. The objective of this study is to investigate the safety and efficacy of C1-C2 pedicle screw fixation for atlantoaxial dislocation (AAD) in pediatric patients younger than 5 years and to evaluate the preliminary clinical and radiographic results. METHODS: During a 7-year period, 15 patients with a mean age of 3.4 years (range, 2-5 years) underwent C1-C2 pedicle screw fixation for AAD; at least 1 C1 pedicle screw was incorporated as part of the posterior atlantoaxial fusion construct. The cause, surgical technique, instrumentation, and clinical and radiographic results were analyzed. RESULTS: Five patients had preoperative neurologic deficits and no neurovascular injury occurred during surgery. Anterior release using a retropharyngeal approach was performed in 4 cases. Fixation of 55 C1 and C2 pedicle screws was performed successfully without neurovascular complications. Anatomic and partial reductions occurred in 12 and 3 cases, respectively. Solid fusion was achieved in 14 patients (96.9%) during a mean follow-up of 37.6 months (range, 12-111 months). Two patients (13%) experienced complications: one had prolonged immobilization for a loose C1 pedicle screw, and one had unintended fusion caused by allograft absorption. All patients showed radiographic stability and symptom resolution. CONCLUSIONS: C1-C2 pedicle screw fixation for AAD is safe and effective even in children younger than 5 years.

Structural Allograft versus Autograft for Instrumented Atlantoaxial Fusions in Pediatric Patients: Radiologic and Clinical Outcomes in Series of 32 Patients.

BACKGROUND: Allograft with wire techniques showed a low fusion rate in pediatric atlantoaxial fusions (AAFs) in early studies. Using allograft in pediatric AAFs with screw/rod constructs has not been reported. Thus we compared the fusion rate and clinical outcomes in pediatric patients who underwent AAFs with screw/rod constructs using either a structural autograft or allograft. METHODS: Pediatric patients (aged ≤12 years) who underwent AAFs between 2007 and 2015 were retrospectively evaluated. Patients were divided into 2 groups (allograft or autograft). Clinical and radiographic results were collected from hospital records and compared. RESULTS: A total of 32 patients were included (18 allograft, 14 autograft). There were no significant group differences in age, sex, weight, diagnosis, or duration of follow-up. A similar fusion rate was achieved (allograft: 94%, 17/18; autograft: 100%, 14/14); however, the average fusion time was 3 months longer in the allograft group. Blood loss was significantly lower in the allograft group (68 ± 8.5 mL) than the autograft group (116 ± 12.5 mL). Operating time and length of hospitalization were slightly (nonsignificantly) shorter for the allograft group. A significantly higher overall incidence of surgery-related complications was seen in the autograft group, including a 16.7% (2/14) rate of donor-site-related complications. CONCLUSIONS: The use of allograft for AAF was safe and efficacious when combined with rigid screw/rod constructs in pediatric patients, with a similar fusion rate to autografts and an acceptable complication rate. Furthermore, blood loss was less when using allograft and donor-site morbidity was eliminated; however, the fusion time was increased.

Hemimasticatory Spasm with a Single Venous Compression Treated with Microvascular Decompression of the Trigeminal Motor Rootlet.

BACKGROUND: Hemimasticatory spasm is a very rare disorder of the trigeminal motor rootlet that is characterized by a paroxysmal involuntary contraction of the jaw-closing muscles. The mechanisms for hemimasticatory spasm remain unclear, and an efficient treatment strategy still needs to be developed. CASE DESCRIPTION: We report a case of a successful treatment of hemimasticatory spasm with single venous compression via microvascular decompression of the trigeminal motor rootlet. CONCLUSIONS: Our report shows that a single venous compression may be also responsible for idiopathic hemimasticatory spasm which can be cured by microvascular decompression. This is the first report on hemimasticatory compressed by a single vein in the world.

Deleterious effects of non-synonymous single nucleotide variants of human IL-1ß gene.

The IL-1ß gene is currently topic of interest for its important role in the pathogenesis of intervertebral disk degeneration. The new sequencing technology makes it crucial to study the effects of variants in IL-1ß. Thus, 714 IL-1ß variants with evidence supporting were collected from the EMBL database. Among them, 62 were non-synonymous single nucleotide variants (nsSNVs). Furthermore, six common nsSNVs were predicted to have damaging effects by SIFT, PolyPhen, PROVEAN and SNPs&GO. Based on the constructed three-dimensional structure of pro-IL-1ß, rs375479974 with a mutation of Phe to Ser was proposed to reduce the stability of the pro-IL-1ß protein. The rs375479974 variant was found to cause least common stabilizing amino acid residues, decrease hydrophilic and increase hydrophobic surface areas in the greatest degree, and have the lowest free energy alterations in I-Mutant 2.0 sequence analysis. When analyzing the interaction between the experimental 3D structure of mature IL-1ß and its neutralizing McAb canakinumab complex, the rs775174784 substitution of Leu with Phe was found to attenuate this interaction by reducing binding energy, while rs375479974 not. Molecular dynamics simulation results in intervertebral disk environment supported rs775174784's effects. These results suggest that both rs375479974 and rs775174784 may have potential clinical and drug target implications.

Identification of key genes and pathways associated with spinal cord injury.

The present study was designed to identify key genes or significant signaling pathways associated with spinal cord injury (SCI), and to clarify the underlying molecular mechanisms of SCI. Data from the GSE45550 array were downloaded from the Gene Expression Omnibus database. A total of 6 control samples, 6 samples at 3 days post­SCI (SCI3d), 6 samples at 8 days post­SCI (SCI8d) and 6 samples at 14 days post­SCI (SCI14d) were included. The microarray data was preprocessed by the robust multi­array average algorithm. The differentially expressed genes (DEGs) were identified using the limma package. The overlapping DEGs among groups were analyzed using the Venny 2.0 online tool. Modules enriched by DEGs were selected by weighted gene co­expression network analysis. Gene Ontology annotation and the Kyoto Encyclopedia of Genes and Genomes pathways were identified for DEGs using the Database for Annotation, Visualization and Integrated Discovery. A total of 693 genes were obtained by combining the DEGs of the SCI3d, SCI8d and SCI14d groups. The pink module and green module with smaller P­values obtained from weighted gene co­expression network analysis module analyses of DEGs demonstrated a higher correlation with SCI. In addition, the peroxisome proliferator­activated receptor (PPAR) signaling pathway that the cluster of differentiation 36 (CD36) was significantly enriched in, was one of the significant pathways in the pink module. The p53 signaling pathway that Caspase­3 (Casp3) was significantly enriched in was one of the significant pathways in the green module. In conclusion, the results of the present study demonstrated that the PPAR and p53 signaling pathway may serve important roles in the progression of SCI. In addition, CD36 and Casp3 may be involved in the progression of SCI via the PPAR and p53 signaling pathways, respectively.