NOD2 Genes Mutation in a Blau Syndrome Accompany with Congenital Hyperuricemia: A Case Report

Rationale: Blau syndrome (BS) is a chronic auto-inflammatory granulomatous disorder associated with the nucleotide-binding oligomerization domain-containing 2 (NOD2) gene mutations. Gene mutation is one cause of congenital hyperuricemia, However, the relationship between NOD2 and hyperuricemia was unknown. Patient concerns: A 3.5-year-old girl was admitted to hospital because of pain in the left calf and red eyes, otherwise, she suffered from skin rash, and skin cysts in the wrist and ankle joints before.Diagnoses: The girl was diagnosed with sporadic BS (SBS) accompanied with congenital hyperuricemia according to her clinical presentation and gene mutation.Interventions: The patient received prednisolone combined with adalimumab and methotrexate for controlling SBS. Oral febuxostat to alleviate uric acid levels. Outcomes: Her serum uric acid decreased to normal levels after 2 weeks with oral febuxostat tablet. Four months following the treatment, the number of cysts was decreased and ocular damage was not progressed. Lessions: Blau syndrome is a relatively new entity that clinical spectrum continues to expand. This patient provides some information, which would be assist the diagnosis.

Detection of Novel Biomarkers in Saliva of Rheumatoid Arthritis Model Mice by Proteomics and Pathological Analysis

Rheumatoid arthritis (RA) is an autoimmune disease in which joints are gradually de-stroyed, and early diagnosis and treatment before joint deformation or destruction is im-portant. The detection of novel RA biomarkers in saliva may facilitate the early detection of RA before the onset of disease. In this study, we conducted a comprehensive proteomic analysis of salivary proteins from RA model mice. Proteins were identified by Western blotting and enzyme-linked immunosorbent assay in serum, saliva, and ankle joints from DBA/1JJmsSlc mice, a model of rheumatoid arthritis. Ankle joints and submandibular glands were hematoxylin and eosin stained and immunostained, and the results were compared with those of control mice. Citrullinated α1 antitrypsin (A1AT, 46 kDa) was commonly detected in saliva, serum, and ankle joints of severe RA model mice, and was confirmed by proteome analysis. Western blotting detected a band corresponding to 46 kDa in serum, saliva and ankle joints, and immunostaining of ankle joints with A1AT an-tibody showed a strong positive signal in the synovium. In DBA/1JJmsSlc mice, not only cyclic citrullinated peptide antibodies but also A1AT may be involved in protein citrulli-nation and contribute to the development and severity of RA.

Noninvasive electrical stimulation of the spinal cord as a method of correcting walking after a stroke

The effect of noninvasive trasnscutaneous spinal cord stimulation (scTS) on walking parameters in patients after a cerebral infarction or ischemic stroke was investigated. It has been shown that after the use of scTS while walking on the floor the speed of movement, the length of the step cycle, the height of the foot elevation and the amplitude of movements in the hip, knee and ankle joints increased, which shows the ability of using scT to correct walking after a stroke. Key words: spinal cord, electrical stimulation, stroke, walking.

Ankle Ligament Injuries Based on Medical Images of Hip-Hop Training and Research on Training Techniques

Ligament loss of the ankle joints is common. If it is not handled properly, it is easy to cause repeated sprains of the ankle joints. Usually, medical image examination will be the first choice for the diagnosis of ligament injury. This paper analyzes the ankle ligament injury of hip-hop training based on medical images and studies the hip-hop training skills, to explore the application method of medical images in ankle injury, and can provide some theoretical and practical references for other sports injuries. In this paper, several medical image-related technologies such as texture feature extraction, main visual feature SAR method, and edge detection method are proposed. These technologies are applied to the study of ankle ligament injury, and an effective medical training therapy is determined by setting up the control group and the treatment group to observe the medical image display of each part of the ankle. Through the statistics of the clinical efficacy judgment standard results of patients in the treatment group and patients in the control group after two weeks of injury, it is found that the experimental results show that the cure rate, significant efficiency, and total effective rate of patients in the treatment group after two weeks are higher than those in the control group, and the total effective rate of the treatment group has reached 92.20%.

RORγt +Foxp3 + regulatory T cells in the regulation of autoimmune arthritis

Summary RORγt +Foxp3 +regulatory T (Treg) cells, known as T regulatory 17 cells (Tr17 cells), are a novel subset of Treg cells, which have the potential to regulate the development of experimental autoimmune encephalomyelitis (EAE) thorough a specific repression of T helper 17 (Th17) cell mediated inflammation. However, the function of Tr17 cells the development of other autoimmune diseases such as autoimmune arthritis remains unclear. Collagen induced arthritis (CIA) was found to be prolonged in Foxp3 creRORγt fl/fl mice, in which Tr17 cells were deleted, compared with Foxp3 wtRORγt fl/fl mice. Tr17 cells were significantly increased in ankle joints compared with draining lymph nodes after the onset of arthritis. CC chemokine receptor 6 (CCR6) was up-regulated on Tr17 cells compared to RORγt negative Treg cells. CD25, cytotoxic T-lymphocyte antigen 4 (CTLA-4), glucocorticoid-induced TNF-receptor (GITR), and inducible T-cell co-stimulator (ICOS) expression was also up-regulated on Tr17 cells compared to RORγt negative Treg cells.IL-10-producing cells and Blimp-1 + and T-bet + cells were increased in Tr17 cells compared to RORγt negative Treg cells. Tr17-enriched Treg cells significantly suppressed proliferation of conventional T cells through IL-10 compared with CCR6 -Treg cells. Tr17 cells increased during the clinical course of CIA and accumulated in inflamed joints. Taken together, it appears that Tr17 cells play a crucial role in the regulation of autoimmune arthritis.

The influence of limb role, direction of movement and limb dominance on movement strategies during block jump-landings in volleyball

The identification of movement strategies in situations that are as ecologically valid as possible is essential for the understanding of lower limb interactions. This study considered the kinetic and kinematic data for the hip, knee and ankle joints from 376 block jump-landings when moving in the dominant and non-dominant directions from fourteen senior national female volleyball players. Two Machine Learning methods were used to generate the models from the dataset, Random Forest and Artificial Neural Networks. In addition, decision trees were used to detect which variables were relevant to discern the limb movement strategies and to provide a meaningful prediction. The results showed statistically significant differences when comparing the movement strategies between limb role (accuracy > 88.0% and > 89.3%, respectively), and when moving in the different directions but performing the same role (accuracy > 92.3% and > 91.2%, respectively). This highlights the importance of considering limb dominance, limb role and direction of movement during block jump-landings in the identification of which biomechanical variables are the most influential in the movement strategies. Moreover, Machine Learning allows the exploration of how the joints of both limbs interact during sporting tasks, which could provide a greater understanding and identification of risky movements and preventative strategies. All these detailed and valuable descriptions could provide relevant information about how to improve the performance of the players and how to plan trainings in order to avoid an overload that could lead to risk of injury. This highlights that, there is a necessity to consider the learning models, in which the spike approach unilaterally is taught before the block approach (bilaterally). Therefore, we support the idea of teaching bilateral approach before learning the spike, in order to improve coordination and to avoid asymmetries between limbs.

Estimation of Lower Limb Kinematics during Squat Task in Different Loading Using sEMG Activity and Deep Recurrent Neural Networks

The aim of the present study was to predict the kinematics of the knee and the ankle joints during a squat training task of different intensities. Lower limb surface electromyographic (sEMG) signals and the 3-D kinematics of lower extremity joints were recorded from 19 body builders during squat training at four loading conditions. A long-short term memory (LSTM) was used to estimate the kinematics of the knee and the ankle joints. The accuracy, in terms root-mean-square error (RMSE) metric, of the LSTM network for the knee and ankle joints were 6.774 ± 1.197 and 6.961 ± 1.200, respectively. The LSTM network with inputs processed by cross-correlation (CC) method showed 3.8% and 4.7% better performance in the knee and ankle joints, respectively, compared to when the CC method was not used. Our results showed that in the prediction, regardless of the intensity of movement and inter-subject variability, an off-the-shelf LSTM decoder outperforms conventional fully connected neural networks.

Ankle arthrodesis using a retrograde intramedullary rod with fins for highly destructive joints in elderly patients with rheumatoid arthritis: A report of two cases

Here we present two cases in older adult patients with highly destructive changes in ankle joints (Larsen Grade IV) and who underwent retrograde intramedullary nail fixation with fins. In both patients, bony union was achieved, full weight-bearing was attained 3 months after surgery and good functional outcome was acquired.

Case Report of Multisystem Inflammatory Syndrome in a Child Related to COVID-19

Background : Multisystem Inflammatory Syndrome in Children (MIS-C) is a serious condition that appears to be linked to Coronavirus Disease 2019 (COVID-19). Most children who become infected with the COVID-19 virus have only a mild illness. Aim of this study to evaluate the children who go on to develop MIS-C, some organs and tissues-such as the heart, lungs, blood vessels, kidneys, digestive system, brain, joints, skin or eyes -become severely inflamed. Case Report : 11 years old girl admitted in Paediatric Ward of in Imperial Hospital Chattogram on 12 July 2020 with the complains of fever, loose motion, rash in hands, body and legs, swelling of the wrist and ankle joints which were associated with anorexia, nausea , vomiting and bodyache. For this reason the child was evaluated. Conclusion : Clinical features in children have varied but predominantly include cardiac dysfunction, abdominal pain, and elevated inflammatory markers, including C-Reactive Protein (CRP) Ferritin, D-dimer and Interleukin-6. MIS-C can lead to shock and multiple organ failure requiring intensive care. Chatt Maa Shi Hosp Med Coll J; Vol.20 (2); July 2021; Page 89-92

AMIC Technique for the Treatment of Chondral Injuries of the Hand and Wrist

Scaffolds, either alone or combined with cultured chondrocyte cells, are an effective treatment for chondral or osteochondral defects of the knee and ankle joints.Scaffolds are a more sophisticated solution and have some advantages compared with the isolated use of the more traditional treatments of microfractures or nanofractures.In addition, scaffolds represent a less complicated technique and a less expensive treatment compared with chondrocyte culture treatments, which are accessible by very few patients.In the present article, we detail the surgical technique and provide advices and tips for the treatment of ostecochondral hand and wrist lesions using the Chondro-Gide (Geistlich Pharma AG, Wolhausen, Switzerland) scaffold and its patented autologous matrix-induced chondrogenesis (AMIC, Geistlich Pharma AG) technique.