MiRNA-224-5p regulates the defective permeability barrier in sensitive skin by targeting claudin-5.

BACKGROUND: Sensitive skin is hypersensitive to various external stimuli and a defective epidermal permeability barrier is an important clinical feature of sensitive skin. Claudin-5 (CLDN5) expression levels decrease in sensitive skin. This study aimed to explore the impact of CLDN5 deficiency on the permeability barrier in sensitive skin and the regulatory role of miRNAs in CLDN5 expression. MATERIALS AND METHODS: A total of 26 patients were retrospectively enrolled, and the CLDN5 expression and permeability barrier dysfunction in vitro were assessed. Then miRNA-224-5p expression was also assessed in sensitive skin. RESULTS: Immunofluorescence and electron microscopy revealed reduced CLDN5 expression, increased miR-224-5p expression, and disrupted intercellular junctions in sensitive skin. CLDN5 knockdown was associated with lower transepithelial electrical resistance (TEER) and Lucifer yellow penetration in keratinocytes and organotypic skin models. The RNA-seq and qRT-PCR results indicated elevated miR-224-5p expression in sensitive skin; MiR-224-5p directly interacted with the 3`UTR of CLDN5, resulting in CLDN5 deficiency in the luciferase reporter assay. Finally, miR-224-5p reduced TEER in keratinocyte cultures. CONCLUSION: These results suggest that the miR-224-5p-induced reduction in CLDN5 expression leads to impaired permeability barrier function, and that miR-224-5p could be a potential therapeutic target for sensitive skin.

Hand skeletal features of children and adolescents with different growth statuses and periods.

Background: The hand skeletal features of children and adolescents at different growth statuses and development periods, and the correlation between these skeletal features and hand asymmetric force are currently unclear. Thus, this study sought to investigate the hand skeletal features of children and adolescents at different growth statuses and at different periods of development, and the correlation between these skeletal features and asymmetric force in hands. Methods: A retrospective study was performed on subjects aged 4-20 years with good growth status (group A) or short stature (group B). Additional subjects aged 4-20, 21-40, and >40 years were enrolled in groups C, D, and E, respectively. All the subjects underwent left-hand posteroanterior X-ray radiography. Brachymesophalangia-V (BMP-V), conical epiphysis, epiphysis/metaphysis symmetry of the proximal phalanx (ESP), and the angle of the metacarpal-phalangeal axis were analyzed. Results: Of the 654 children and teenagers aged 4-20 years (median: 11 years) enrolled in the study, 432 were allocated to group A, of whom 237 (54.9%) were male and 195 (45.1%) were female, and 222 matched cases were allocated to group B, of whom 112 (50.5%) were male and 110 (49.5%) were female. The first to third ESPs were significantly (P<0.05) greater in group A than in group B, while the first to third angles of the metacarpal-phalangeal axis were significantly (P<0.05) smaller in group A than in group B. The correlation analysis revealed a highly significant (P<0.01) negative correlation between the ESP and angle of the metacarpal-phalangeal axis (r=-0.948, -0.926, -0.940, -0.885, and -0.848, respectively). The incidence of BMP-V was 15.4% in all patients, while that of conical epiphysis was 19.5%. The incidence of BMP-V and conical epiphysis was significantly (P<0.05) smaller in group A than in group B (11.1% vs. 23.8% for BMP-V and 16.6% vs. 25.2% for conical epiphysis, respectively). Additionally, 216 subjects were enrolled in group C (108 male and 108 female), 185 subjects were enrolled in in group D (93 male and 92 female), and 176 subjects were enrolled in in group E (104 male and 72 female). The second to fifth ESPs in group C were significantly (P<0.05) smaller than those in both groups D and E, while the second to fifth angles of the metacarpal-phalangeal axis were significantly (P<0.05) larger in group C than in both groups D and E. A BMP-V was present in 35 (16.2%) patients in group C, 8 (4.3%) in group D, and 2 (1.1%) in group E, and the difference among the three groups was statistically significant (P<0.05). Conclusions: The epiphyseal symmetry of the proximal phalanges is poor in short stature children and adolescents, and the angle between the metacarpal and phalangeal axes is larger in children and adolescents with short stature than those with normal height and good growth status. A negative correlation was found between the epiphyseal symmetry of the proximal phalanges and asymmetrical stress.

The METTL3-m6A-YTHDC1-AMIGO2 axis contributes to cell proliferation and migration in esophageal squamous cell carcinoma.

The upregulation of methyltransferase-like 3 (METTL3) has been associated with the progression of esophageal cancer. However, METTL3-induced N6-methyladenosine (m6A) alterations on the downstream target mRNAs in esophageal squamous cell carcinoma (ESCC) are not yet fully understood. Our study revealed that silencing METTL3 resulted in a significant decrease in ESCC cell proliferation and metastasis in vitro and in vivo. Additionally, the adhesion molecule with Ig like domain 2 (AMIGO2) was identified as a potential downstream target of both METTL3 and YTH Domain-Containing Protein 1 (YTHDC1) in ESCC cells. Functionally, AMIGO2 augmented the malignant behaviors of ESCC cells in vitro and in vivo, and its overexpression can rescue the inhibition of the proliferation and migration in ESCC cells induced by METTL3 or YTHDC1 knockdown. Furthermore, our findings revealed that knockdown of METTL3 decreased m6A modification in the 5'-untranslated regions (5'UTR) of AMIGO2 precursor mRNA (pre-mRNA), and YTHDC1 interacted with AMIGO2 pre-mRNA to regulate AMIGO2 expression by modulating the splicing process of AMIGO2 pre-mRNA in ESCC cells. These findings highlighted a novel role of the METTL3-m6A-YTHDC1-AMIGO2 axis in regulating ESCC cell proliferation and motility, suggesting its potential as a therapeutic target for ESCC.

Single-cell sequencing highlights heterogeneity and malignant progression in actinic keratosis and cutaneous squamous cell carcinoma.

Cutaneous squamous cell carcinoma (cSCC) is the second most frequent of the keratinocyte-derived malignancies with actinic keratosis (AK) as a precancerous lesion. To comprehensively delineate the underlying mechanisms for the whole progression from normal skin to AK to invasive cSCC, we performed single-cell RNA sequencing (scRNA-seq) to acquire the transcriptomes of 138,982 cells from 13 samples of six patients including AK, squamous cell carcinoma in situ (SCCIS), cSCC, and their matched normal tissues, covering comprehensive clinical courses of cSCC. We identified diverse cell types, including important subtypes with different gene expression profiles and functions in major keratinocytes. In SCCIS, we discovered the malignant subtypes of basal cells with differential proliferative and migration potential. Differentially expressed genes (DEGs) analysis screened out multiple key driver genes including transcription factors along AK to cSCC progression. Immunohistochemistry (IHC)/immunofluorescence (IF) experiments and single-cell ATAC sequencing (scATAC-seq) data verified the expression changes of these genes. The functional experiments confirmed the important roles of these genes in regulating cell proliferation, apoptosis, migration, and invasion in cSCC tumor. Furthermore, we comprehensively described the tumor microenvironment (TME) landscape and potential keratinocyte-TME crosstalk in cSCC providing theoretical basis for immunotherapy. Together, our findings provide a valuable resource for deciphering the progression from AK to cSCC and identifying potential targets for anticancer treatment of cSCC.

3D nanocake-like Au-MXene/Au pallet structure-based label-free electrochemical aptasensor for paraquat determination.

3D nanocake-like Au-MXene and Au pallet (Au-MXene/AuP) nanocomposite-modified screen-printed carbon electrodes (SPCEs) were utilized to construct an ultrasensitive label-free electrochemical aptasensor through a self-assembly procedure for trace paraquat (PQ) residue detection. Benefiting from the excellent electrochemical (EC) performances (e.g., high conductivity and large surface area) of Au-MXene nanocomposites and AuP substrate, the developed Apt/Au-MXene/AuP/SPCE-based EC aptasensor displayed excellent specificity and anti-interference ability, good repeatability, and stability. A linear relationship between the log value of the change in current intensity [lg (ΔI)] and the log value of the concentration of PQ [lg (CPQ)] was obtained in the range 0.05-1000 ng/mL. The limit of detection was 0.028 ng/mL, and the sensitivity was 255.5 µA/(µM·cm2). Practical applications in malt and mint samples confirmed the accuracy of the EC aptasensor in complex matrices for PQ detection, providing a universal analytical tool for other trace pesticides in different food samples by simply replacing the corresponding aptamers.

Morphology and deformity of the shoulder and pelvis in the entire spine radiographs of adolescent idiopathic scoliosis.

Background: To investigate the deformity and asymmetry of the shoulder and pelvis in adolescent idiopathic scoliosis (AIS) patients. Methods: This retrospective cross-sectional study enrolled 223 AIS patients with a right thoracic curve or left thoracolumbar/lumbar curve who underwent spine radiographs at the Third Hospital of Hebei Medical University between November 2020 and December 2021. The following parameters were measured: Cobb angle, clavicular angle, glenoid obliquity angle, acromioclavicular joint deviation, femoral neck-shaft projection angle, iliac obliquity angle, acetabular obliquity angle, coronal trunk deviation distance, and spinal deformity deviation distance. The Mann-Whitney U test, Kruskal-Wallis H test were used for inter-group comparisons, and Wilcoxon signed-rank test were used for intra-group left and right sides comparisons. Results: Shoulder and pelvic imbalances were found in 134 and 120 patients, respectively, and there were 87, 109, and 27 cases of mild, moderate, and severe scoliosis, respectively. Compared with mild scoliosis patients, the difference in the acromioclavicular joint offset on bilateral sides was significantly increased in moderate and severe scoliosis [11.04, 95% confidence interval (CI): 0.09-0.14 for mild, 0.13-0.17 for moderate, and 0.15-0.27 for severe scoliosis, P=0.004], and the difference in the femoral neck-shaft projection angle on bilateral sides was significantly enhanced with scoliosis aggravation (14.14, 95% CI: 2.34-3.41 for mild, 3.00-3.94 for moderate, and 3.57-6.43 for severe scoliosis, P=0.001). The acromioclavicular joint offset was significantly larger on the left than that on the right in patients with a thoracic curve or double curves (thoracic curve -2.75, 95% CI: 0.57-0.69 for the left and 0.50-0.63 for the right, P=0.006; double curve -3.27, 95% CI: 0.60-0.77 for the left and 0.48-0.65 for the right, P=0.001). The femoral neck-shaft projection angle was significantly larger on the left than right in patients with a thoracic curve (-4.46, 95% CI: 133.78-136.20 for the left and 131.62-134.01 for the right, P<0.001), but larger on the right than left in patients with thoracolumbar/lumbar curve (thoracolumbar -2.98, 95% CI: 133.75-136.70 for the left and 135.13-137.82 for the right, P=0.003; lumbar -3.24, 131.97-134.56 for the left and 133.76-136.26 for the right, P=0.001). Conclusions: In AIS patients, shoulder imbalance has a greater impact on coronal balance and spinal scoliosis above the lumbar segment, whereas pelvic imbalance has a greater impact on sagittal balance and spinal scoliosis below the thoracic segment.

Combination of high-frequency electric with 5-ALA photodynamic therapy in cellular angiofibroma of vulva: A case report.

Cellular angiofibroma is a rare benign tumor and difficult to diagnose. Surgery was used in most cases of prior treatment. However, due to the individual differences, this method may be limited, and there is a risk of recurrence. After signing informed consent for treatment, we treated an 18-year-old female with cellular angiofibroma successfully by using the High-Frequency electric pretreatment combined with 5-Aminolevulinic Acid (5-ALA) photodynamic therapy. The tumor was numerous and irregularly shaped on the right labia majora. The specific treatment process was as follows:5-Aminolevulinic Acid (5-ALA) photodynamic therapy was administered after pretreatment with high-frequency electric ion. We did five treatments in total, 10 days apart. And the therapeutic effect was satisfactory for patients. The wound healed well and no recurrence during 12 months follow-up, and the follow-up is continuing. For similar cases, our experience can be taken into account.

Images of giant cell tumor and chondroblastoma around the knee: retrospective analysis of 99 cases.

Background: It is difficult to differentiate giant cell tumors of the bone (GCTB) from chondroblastoma around the knee based on imaging findings. This study analyzed the imaging features of these 2 diseases for better differentiation. Methods: This retrospective cross-sectional cohort study reviewed data of patients with pathologically confirmed GCTB (n=81; age 15-75 years; median age 33 years) and chondroblastoma (n=18; age 12-34 years; median age 14 years). In all, 18 imaging signs were analyzed. Results: Patients with chondroblastoma were relatively younger than those with GCTB. On imaging, lesion length was significantly (P<0.00001) smaller in chondroblastoma [range, 15.80-78.30 mm; mean ± standard deviation (SD) 34.15±18.24 mm; 95% confidence interval (CI): 24.05-44.25 mm] than in GCTB [range, 30.10-117.50 mm; mean ± SD 59.73±15.28 mm; 95% CI: 56.24-63.22 mm]. Significantly more (P<0.05) chondroblastoma lesions had calcification (76.5% vs. 1.3%), lobulation (77.8% vs. 32.1%), and swelling range >15 mm (84.6% vs. 41.1%) than did GCTB lesions, whereas significantly more (P<0.05) GCTB lesions were greater than half the host bone diameter (74.1% vs. 16.7%) and had a lesion long axis that was consistent with that of the host bone (98.8% vs. 27.8%). There were no significant differences (P>0.05) between the 2 tumors in the remaining 11 imaging signs. Conclusions: A narrow zone of transition, intratumor calcification, lobulation, tumor transverse diameter greater than the bone diameter, maximum lesion length, consistency between the tumor and bone long axes, and edema range around the lesion >15 mm are parameters that can be used to differentiate GCTB from chondroblastoma around the knee.

WITHDRAWN: Imaging Features of Primary Non-Hodgkin's Lymphoma of Long Bones

Since the authors are not responding to the editor's requests to fulfill the editorial requirement, therefore, the article has been withdrawn.Bentham Science apologizes to the readers of the journal for any inconvenience this may have caused.The Bentham Editorial Policy on Article Withdrawal can be found at https://benthamscience.com/editorial-policies-main.php. BENTHAM SCIENCE DISCLAIMER: It is a condition of publication that manuscripts submitted to this journal have not been published and will not be simultaneously submitted or published elsewhere. Furthermore, any data, illustration, structure or table that has been published elsewhere must be reported, and copyright permission for reproduction must be obtained. Plagiarism is strictly forbidden, and by submitting the article for publication the authors agree that the publishers have the legal right to take appropriate action against the authors, if plagiarism or fabricated information is discovered. By submitting a manuscript the authors agree that the copyright of their article is transferred to the publishers if and when the article is accepted for publication.

Trunk balance, head posture and plantar pressure in adolescent idiopathic scoliosis.

Background: The relationship of trunk balance with head posture and plantar pressure is unknown in patients with adolescent idiopathic scoliosis (AIS). Objective: To investigate the relationship of trunk balance with head posture and plantar pressure by analyzing the imaging data of patients with AIS. Materials and methods: This retrospective study was performed on 80 AIS patients who had whole spine frontal and lateral radiographs, and the imaging parameters were measured and analyzed. Results: The coronal trunk imbalance rate was 67.5%, the trunk offset direction was towards left in 65 cases and right in 15 cases, and the head offset direction was towards left in 66 cases and right in 14 cases. The sagittal trunk imbalance rate was 57.25%. The distance of apical vertebrae and head offset in the coronal trunk balance group was significantly (P < 0.05) smaller than that in the imbalance group. The apical vertebrae offset distance and head offset distance were positively correlated with the tilt angle of trunk (r = 0.484 and 0.642, respectively, P < 0.05). The difference in the percentage of pressure load on the left and right foot was significantly (P < 0.05) greater in the coronal imbalance group than that in the balance group.The center of pressure (COP) sway area was significantly (P < 0.05) larger in the overall trunk imbalance group (both coronal and sagittal imbalance) than in the balanced group. Conclusion: Most AIS patients have trunk imbalance which is severer on the coronal than on the sagittal plane. AIS patients with trunk imbalance show more significant local deformities, greater head offset, greater COP sway area, and decreased head and standing stability.

Lignin-based composites for high-performance supercapacitor electrode materials.

With the rapid development of the global economy, the depletion of fossil fuels and the intensification of environmental pollution, there is an increasingly urgent need for new and green electrochemical energy storage technologies in society. In this thesis, ligninsulfonate/polyaniline nanocomposites were synthesized by in situ chemical oxidation using aniline as the monomer, lignin as the template and dopant, and ammonium persulfate as the oxidant. The results showed that the average diameter of the ligninsulfonate/polyaniline nanocomposite was 85 nm, and the composite electrode exhibited good electron conduction ability and excellent capacitive performance by ligninsulfonate doping. The electrode material showed the best electrochemical performance when the ligninsulfonate addition was 0.1 g. The specific capacitance can reach 553.7 F g-1 under the current density of charge/discharge 1 A g-1, which is higher than that of the pure PANI electrode. The composite electrode material has good multiplicative performance and cycling stability, and the capacitance retention rate can be maintained at 68.01% after 5000 cycles at a charge/discharge current density of 10 A g-1 (three-electrode system), and the capacitance retention rate can be maintained at 54.84% after 5000 cycles at a charge/discharge current density of 5 A g-1 (two-electrode system).

Sagittal morphology of the cervical spine in adolescent idiopathic scoliosis: a retrospective case-control study.

Background: To investigate the relationship between sagittal alignment and coronal deformity in patients with adolescent idiopathic scoliosis (AIS) through analysis of the spinal imaging data. Methods: Four hundred and fifty-four AIS patients who underwent anteroposterior and lateral radiography of the while spine were enrolled, and the spinal parameters of Cobb angle, cervical lordosis, C1-C2 angle, T1 slope, thoracic kyphosis, lumbar lordosis, sacral slope, pelvic tilt (PT), pelvic incidence (PI), cervical sagittal vertical axis (SVA), and spinal SVA were analyzed. Results: The patients were divided into two groups according to the size of the Cobb angle: group A (Cobb angle ≤45°, n=414) and group B (Cobb angle >45°, n=40). In group A, the Cobb angle was in a medium negative correlation with the cervical lordosis angle (r=-0.637, P<0.001), a weak positive correlation (|r|<0.3, P<0.05) with C1-C2 angle, T1 slope and thoracic kyphosis. In group B, the Cobb angle was in a mild positive correlation (P<0.05) with PT (r=0.398) and PI (r=0.360). The cervical lordosis angle was significantly (P<0.05) different between male and female patients in both groups. In Group A, the cervical lordosis angle was in a significantly (P<0.01) positive correlation with the T1 slope (r=0.586), thoracic kyphosis (r=0.490), and sagittal vertical axis (r=0.135), and a significantly (P<0.01) negative correlation with cervical sagittal vertical axis (r=-0.128) and C1-C2 angle (r=-0.155). In group B, the cervical lordosis angle was in a significantly (P<0.05) positive correlation with T1 slope (r=0.661), thoracic kyphosis (r=0.608), lumbar lordosis (r=0.425), sacral slope (r=0.434), and sagittal vertical axis (r=0.335). Conclusions: In AIS patients with the Cobb angle ≤45º, a significant negative correlation exists between the cervical lordosis and the Cobb angle. The sagittal morphology of the cervical spine in AIS patients is affected by the spinal coronal deformity, which plays an important role in the treatment of AIS.

Spinal sagittal alignment and postoperative adding-on in patients with adolescent idiopathic scoliosis after surgery.

INTRODUCTION: Surgery for patients with adolescent idiopathic scoliosis (AIS) may change spinal sagittal alignment, and postoperative adding-on may affect spinal sagittal balance after reconstruction. This study was to investigate the effect of surgery on spinal sagittal alignment and the relationship between postoperative adding-on and spinal sagittal balance in patients with AIS. HYPOTHESIS: The hypothesis of this study was that the effect of surgery on AIS was associated with recovery of the spinal sagittal plane and that presence of postoperative adding-on might affect the spinal sagittal balance. Materials and methods This retrospective study enrolled 22 patients who received surgical treatment. Clinical, imaging and follow-up data were analyzed. RESULTS: After surgery, T1 slope (T1S) and thoracic kyphosis (TK) were significantly (P<0.05) lower in patients with postoperative adding-on (16.73°±6.12° for T1S and 28.95°±11.3° for TK) than those without adding-on (24.82°±8.59° for T1S and 40.29°±12.08° for TK). At the last follow-up, cervical lordosis (CL), T1S, and TK were significantly (P<0.05) lower in patients with adding-on (3.05°±11.41° for CL, 22.12°±3.68° for T1S, and 37.89°±8.97° for TK) than those without adding-on (15.94°±°13.6 for CL, 28.86°±4.26° for T1S, and 47.64°±7.1° for TK). The Cobb angle was significantly (19.65°±8.69° vs. 50.66°±11.46°; P<0.001) decreased after compared with that before surgery. At the final follow-up, the Cobb angle (26.48°±9.61° vs. 19.65°±8.69°, P<0.001), T1S (24.87°±5.11° vs. 20.04°±8.13°), and TK (41.88°±9.45° vs 33.53°±12.71°) all significantly (P<0.01) increased compared with those immediately after surgery. The Cobb angle significantly (26.48°±9.61° vs. 50.66°±11.46°, P<0.001) decreased while CL, T1S, and TK all significantly (8.32°±13.67° vs 2.47°±14.42° for CL, T1S 24.87°±5.11° vs. 21.28°±5.88° for T1S, and 41.88°±9.45° vs. 33.13°±10.97° for TK, P<0.05) increased at the final follow-up compared with those before surgery. DISCUSSION: Surgery affects spinal sagittal alignment, and postoperative adding-on may affect spinal sagittal balance after reconstruction. Surgery as the ultimate approach for AIS has good effects but may result in some side effects. LEVEL OF PROOF: III, retrospective cohort study.

UVB-Induced Secretion of IL-1ß Promotes Melanogenesis by Upregulating TYR/TRP-1 Expression In Vitro.

Purpose: Ultraviolet radiation (UVR) is one of the exogenous stimuli increasing melanogenesis. UV light, especially UVB, is also a potent inducer of epidermal cytokine release. This study is aimed at determining the underlying mechanisms by which UVB-induced cytokines in keratinocytes regulate melanin production in vitro. Methods: Expression levels of mRNA for interleukin- (IL-) 1, IL-1ß, IL-6, IL-10, IL-17, and tumor necrosis factor-alpha (TNF-α) were measured using RT-qPCR at various time points after UVB irradiation in C57BL/6 mice and HaCaT cells. NaOH lysis and L-dihydroxyphenylalanine (L-DOPA) oxidation method were used to measure melanin content and tyrosinase (TYR) activity, respectively, in melanoma B16 cells. RT-qPCR and Western blot were used to assess mRNA and protein levels of microphthalmia-associated transcription factor (MITF), TYR, tyrosine-related protein-1 (TRP-1), and tyrosine-related protein-2 (TRP-2) in B16 cells. Finally, expression levels of cyclooxygenase-2 (COX-2) mRNA and stem cell factor (SCF) in HaCaT cells were measured following knockdown of IL-1ß using siRNA (siIL-1ß). Results: UVB irradiation increased IL-1ß mRNA expression levels in both C57BL/6 mice and HaCaT cells. The melanin content, TYR activity, and expression levels of TYR and TRP-1 were all raised when B16 cells were treated with 4 pg/l of IL-1. Moreover, IL-1ß also upregulated the expression levels of SCF and COX-2 in nonirradiated HaCaT cells. Conversely, knockdown of IL-1ß attenuated UVB irradiation-induced upregulation of SCF and COX-2 expression in keratinocytes. Conclusions: UVB-induced melanogenesis is mediated in part by IL-1ß, leading to upregulation of the TYR/TRP1 expression in melanoma B16 cells. IL-1ß can also stimulate the expression of COX-2 and SCF in HaCaT cells, which in turn increase melanin synthesis in melanocytes. These results suggest that anti-inflammatory approaches could possibly mitigate UVB-induced hyperpigmentation.

Review on the preparation and application of lignin-based carbon aerogels.

Carbon aerogels (CAs) are excellent carrier materials with a large surface area and high porosity. In addition to the above-mentioned wonderful characteristics, aerogel with lignin as a precursor is also a material with high bioactivity and degradability. Lignin carbon aerogels (LCAs) have a wide range of applications, and can be used in supercapacitors, adsorbents and catalysts, etc., but their preparation process is more complex. In this paper, we review the preparation and influencing factors of LCAs, analyze their properties and structural characterization, and aim to provide references for the optimal preparation, effective characterization, and expansion of applications of LCAs.

Clinical and Imaging Features of Desmoplastic Fibroma of Bone for Correct Diagnosis and Differentiation.

OBJECTIVE: The objective of this study is to analyze the clinical and imaging features of desmoplastic fibroma of bone (DFB) for correct diagnosis. MATERIALS AND METHODS: Twenty patients with DFB confirmed by pathology were enrolled, and the imaging presentations were analyzed. Among 20 patients, plain X-ray was performed in all patients, computed tomography (CT) was performed in 12, and magnetic resonance imaging (MRI) was conducted on eight. The clinical and imaging presentations were analyzed and classified to assist in correct diagnosis. RESULTS: Twenty patients with DFB were retrieved, including eleven males and nine females with an age range of 2-52 years (median 27). The DFB involved the femur in six patients, ilium in five, tibia in four, humerus in two, lumbar vertebra in one, radius in one, and calcaneus in the remaining one. DFB was common in the metaphysis of long bones and could involve the diaphysis and epiphysis. The imaging presentations were divided into four types: the cystic expansile destruction in ten patients, osteolytic destruction in five, mixed destruction in four, and paraosseous destruction in one. CT value was 30 -60 Hu in the lesion area (6 cases CT value45Hu). In eight patients with MRI scanning, the lesion in five patients presented with unevenly equal or low signal on T1WI and unevenly equal or high signal on T2WI, with irregular stripes or patches of low signal on both T1WI and T2WI. In the rest three patients, the lesion was evenly equal or low signal on T1WI and evenly high signal on T2WI. MRI more clearly showed a mass in the adjacent soft tissue and the range of edema in the DFB lesion. CONCLUSION: DFB is a rare tumor with strong local aggressiveness, cystic bone destruction, formation of tumor bone trabeculae, soft tissue masses on imaging presentations, low signals on T1WI and T2WI in the lesion, but no periosteal reaction or calcification, which are helpful for diagnosis of the disease and differentiation from other ones.

Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports.

BACKGROUND: Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) gene can lead to impaired glycosylation of α-dystroglycan, which, in turn, causes congenital muscular dystrophy (CMD). The clinical phenotypes of CMD are broad, and there are only a few reports of CMD worldwide. CASE SUMMARY: This report describes the cases of two children with CMD caused by B3GALNT2 gene mutation. The main manifestations of the two cases were abnormal walking posture, language development delay, and abnormal development of the white matter. Case 2 also had unreported symptoms of meningocele and giant arachnoid cyst. Both cases had compound heterozygous mutations of the B3GALNT2 gene, each containing a truncated mutation and a missense mutation, and three of the four loci had not been reported. Nineteen patients with CMD caused by B3GALNT2 gene mutation were found in the literature. Summary and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100% of the cases had nervous system involvement. Head magnetic resonance imaging often showed abnormal manifestations, and more than half of the children had eye and muscle involvement; some of the gene-related symptoms were self-healing. CONCLUSION: B3GALNT2 gene can be used as one of the candidate genes for screening CMD, cognitive development retardation, epilepsy, and multiple brain developmental malformations in infants.

Lower Tibial Shaft Spiral Fracture Concurrent with Distal Tibial Triplane Fracture.

BACKGROUND: The clinical and imaging features of lower tibial shaft spiral fracture concurrent with distal tibial triplane fracture are not clear. INTRODUCTION: This study was conducted to investigate these features for correct diagnosis, treatment and prevention of possible premature physeal arrest or angular deformation. METHODS: Patients with lower tibial shaft spiral fracture concurrent with distal tibial triplane fracture were enrolled, and the clinical, imaging, treatment and follow-up data were analyzed. RESULTS: Five patients with lower tibial shaft spiral fracture concurrent with distal tibial triplane fracture were found including four men and one woman with an age range of 12-15 years (mean 13.6). Injury to the distal tibial epiphysis was missed in the diagnosis in plain radiography reports, but careful reevaluation confirmed distal tibial epiphysis fracture in four cases including Salter-Harris type II in three cases and type III in one case. The remaining case had no apparent distal tibial epiphysis injury in the plain radiograph. CT scan revealed that all five patients had distal tibial triplane fracture of the lateral type including two fragments in three cases and three fragments in two cases. The fracture was divided into type I(within the articular weight-bearing line) in three cases, type II (outside the articular weight-bearing line) in two cases based on the involvement of the articular surface by the fracture line. For the lower tibial fracture, one patient was treated with closed reduction and fixation with an elastic nail, three patients had internal plate fixation, and the remaining patient had cast immobilization. Followed up for 3-11 months (mean 7), all the distal tibial fractures and the triplane fractures were healed without varus or valgus deformity in the ankle. CONCLUSION: Distal tibial triplane fracture can be readily missed in plain radiography and should be suspected in patients with distal tibial spiral fracture which should be evaluated with a computed tomographic scan.

Value of the 45-degree reverse oblique view of the carpal palm in diagnosing scaphoid waist fractures.

OBJECTIVES: To investigate the value of 45° reverse oblique view of the carpal palm in diagnosing scaphoid waist fracture and displacement. METHODS: Eighty-four patients with wrist injury and plain radiography including posteroanterior, lateral, Stecher, and 45° reverse oblique view of the wrist were analyzed for the detection rate in diagnosing scaphoid fractures and displacement. The degree of difficulty in the four views for detecting the scaphoid waist fracture and displacement was rated on a five-grade Likert scale. RESULTS: Among 84 patients, scaphoid waist fractures occurred in 43, and fracture displacement in 32. A significantly (P<0.01) greater rate of detecting the scaphoid waist fracture was found in the Stecher, and 45° reverse oblique view than in the posteroanterior and lateral views. The rate of detecting fracture displacement was significantly (P<0.01) greater in the Stecher and 45° reverse oblique view than in the posteroanterior and lateral views. The Stecher view had a significantly (P = 0.006) lower rate of detecting fracture displacement than the 45° reverse oblique view. It was significantly (P<0.001) easier to identify the scaphoid waist fracture and displacement with the 45° reverse oblique view and the Stecher view than with the posteroanterior and lateral view. The 45° reverse oblique view had the easiest degree to identify the scaphoid waist fracture displacement, followed by the Stecher view, the posteroanterior and the lateral view (P<0.001). CONCLUSIONS: The 45° reverse oblique view clearly shows the scaphoid oblique view in the long axis for better observation of the scaphoid waist fracture and displacement.

Intramedullary Well-differentiated Osteosarcoma: Imaging and Pathologic Findings in 17 Patients.

BACKGROUND: Intramedullary well-differentiated osteosarcoma (IMWDOS) is rare and may easily be misdiagnosed. OBJECTIVE: This study aimed at investigating the clinical, imaging, and pathological features of IMWDOS for correct diagnosis. MATERIALS AND METHODS: Seventeen patients with IMWDOS were enrolled, and their clinical, imaging, and pathological data were analyzed. RESULTS: Total 13 males and 4 females aged 19-55 years (mean 36. 1) were selected. The lesion was located at long bones in 16 patients and the second region of the acetabulum in one patient. Except for three patients with limited areas of lesions, all the other patients had a wide distribution of tumor, and the lesion in long bones involved the metaphysis area with possible extension towards the diaphysis. In imaging, the lesion usually had an unclear boundary with the destruction of bone cortex, uneven thickness of the bone cortex, thick and coarse trabecula in the lesion, but few periosteal reactions and soft tissue masses. The lesion was histologically composed of spindle cells with slight atypia. Follow-up was performed 2-101 months (mean 31.9m) in 14 cases, 10 years in one case, and 26 years in the remaining two. At follow-up, 12 patients (12/17 or 70.6%) who had a complete resection, including amputation (n=2), wide excision (n=8), and endoprosthetic replacement (n=2), showed no recurrence or metastasis. Among five patients who underwent curettage, three (3/17 or 17.6%) had recurrent lesions, leading to death in two of them, and the third one died during post-operation chemotherapy. CONCLUSION: Intramedullary well-differentiated osteosarcoma tends to occur at the metaphysis of long bones, especially at the distal femur. Histological, clinical, and imaging findings lack specific characteristics and should be examined collectively to reach a correct diagnosis. The prognosis of patients with complete lesion resection is good, while incomplete lesion curettage or resection will lead to recurrence and transformation into a highly malignant tumor.