Day 2 :
University of Padua, Italy
Time : 09:45-10:25
Full Professor of Histology and Embriology, University of Padova, Italy. Graduated as MD (University of Padua, 1965), Postodctoral Specialization in Clinical Pathology (University of Padua, 1977), Postdoctoral Fellow Dept. of Biochemistry, Baylor University of Baylor, Houston, Texas, USA, (1965-1967), Lecturer, Institute of Histology, University of Padua (1970), Full Professor of Histology - Embryology, University of Padua (1975 - 2011) Senior Researcher of the Faculty of Medicine- University of Padova (2012- present) President of the Italian Society of Cutaneous Biology and Member of the Editorial Board of "Wound Repair and Regeneration" (Mosby Inc., St. Louis MO, USA).
Nociceptive pain is one of the most common types of pain and originates with an injury involving nociceptors. About 60% of the knee joint innervations are classified as nociceptive. The specific biological mechanism underlying the regulation of nociceptors is relevant for symptom treatment of pathologies affecting the knee joint. Indeed, intra-articular administration of exogenous hyaluronic acid (HA) in osteoarthritis (OA) seems to be particularly effective reducing pain and improving patient function. In the present work we investigated if HA induces activation of opioid peptide (OP) receptors.
In the present work we used both aequorin technology and the fluorescent dye Fura-2 to investigate if HA is able to induce putative antinociceptive effects via opioid receptor activation.
Treatment with medium molecular weight (200 kDA) HA induces the selective activation of the kappa (KOP) receptor.
Anhui Medical University, China
Keynote: The role of Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF) in inflammatory arthritis
Time : 10:25-11:05
Yuxian Shen’s current research focused on the involvement of endoplasmic reticulum (ER) stress in the pathogenesises of neurodegenerative diseases and inflammatory diseases. The major findings in her lab are the results of protein degradation mediated by ER ubiquitin ligases of Hrd1 and gp78. Both of them facilitate degradation and enhance solubility of a-1-antitrypsin Z mutant, a major cause of a-1-antitrypsin deficiency. They also found that Hrd1 plays an important role in neuron protection. Additionally, Hrd1 promotes hyperphosphorylated tau degradation. An area of Shen’s lab is about ER stress-upregulated protein MANF. They found that MANF is sensitive to ischemia/hypoxia and inflammation. The results suggest that MANF may be involved in neuroprotection and inflammatory inhibition. Further efforts are directed to understand the transcription regulation of MANF under inflammation and ischemia. A new direction in her lab is to investigate the mechanisms of ER stress involved in autoimmune diseases including SLE and RA.
Inflammation can cause endoplasmic reticulum (ER) stress and therefore activates the unfolded protein response (UPR). ER stress and the consequent UPR have the potential to activate NF-kB. However, the factors mediating the crosstalk between ER stress and the NF-κB pathway remain unclear. Here, we showed that ER stress inducible protein Mesencephalic Astrocyte-derived Neurotrophic Factor (MANF) was up-regulated in autoimmune diseases, such as rheumatoid arthritis, systemic lupus erythematosus, and ankylosing spondylitis, and inflammatory disease models. Inflammation caused MANF to relocalize to the nuclei. MANF interacted with the DNA binding domain of p65 through its C-terminal SAP-like domain in the nuclei under the condition of inflammation or ER stress. MANF consequently inhibited p65-mediated transcriptional activation by interfering with the binding of p65 to its target genes promoters. Consistently, MANF suppressed the expressions of NF-κB-dependent target genes and the proliferation of inflammatory synoviocytes. These findings suggest that MANF may be a negative regulator of inflammation and mediate the crosstalk between the NF-κB pathway and ER stress.
University of Milan, Italy
Riccardo D’Ambrosi has completed the study in medicine at the age of 25 years from Università degli Studi di. He is a resident of CASCO – Piede e Caviglia, Istituto Ortopedico Galeazzi. He has published more than 20 papers in reputed journals and has been serving as an editorial board member of repute.
Purpose: to assess the functional and radiological outcomes after AT-AMIC® (arthroscopic talus autologous-matrix induced chondrogenesis) in 2 weight groups: patients with BMI <25 (Healthy Weight Group–HG) and with BMI ≥25 (Overweight Group-OG).
Methods: 37 patients were evaluated. All patients were treated with AT-AMIC® repair for osteochondral talar lesion. Magnetic Resonance Imaging (MRI), Computed-Tomography (CT), Visual Analgoue Scale (VAS) for pain, American Orthopaedic Foot and Ankle Society (AOFAS) score and Short-Form Healt Survey (SF-12) were performed preoperatively (T0) and at 6 (T1), 12 (T2), and 24 (T3) months postoperatively.
Results: HG was composed of 21 patients (BMI: 21.90±1.94), while OG consisted of 16 patients (BMI of 27.41±1.98). In both groups we found a significant difference for clinical and radiological parameters with ANOVA for repeated measures through four time points (p<0.001). In HG, AOFAS increased at every follow-up (p<0.05), VAS improved significantly between T0 and T1 (p<0.0001) and between T1 and T2 (p=0.0196). In OG, AOFAS improved only between T2 and T3 (p=0.0104), while VAS improved significantly between T0 and T1 (p<0.0001) and between T2 and T3 (p=0.0272). In HG the size of the lesion decreased significantly between T1 and T2 (p<0.05) and between T2 and T3 (p<0.05) both with CT and MRI, instead, in OG the size of the lesion in CT improved significantly only between T1 and T2 (p=0.007), while MRI showed a significant reduction of the lesion at each follow-up (p<0.05). In OG we found a significant difference comparing CT and MRI at each follow-up; in HG this difference was found only between T0 and T1 (p<0.0001) and T1 and T2 (p=0.0492). Finally, OG presented a significant bigger size lesion measured with MRI at T0 (p=0.033).
Conclusions: Osteocondral talar lesions in fatter patients are characterized by a bigger preoperative size, but no clinical differences were found between the two groups. AT-AMIC® can be considered a safe and reliable procedure, regardless of weight, with a significant improvement also in quality of life.
Aga Khan University Hospital, Pakistan
Dr. Marij Zahid currently works as Resident with Section of Orthopedics, Aga khan University Karachi, Pakistan
Introduction: Scapular fractures are rare injuries and usually occur due to high energy trauma. Displaced Intra articular fractures usually require operative treatment and yields better outcomes as compared to conservative management.
Objectives: To assess the functional and radiological outcomes of displaced intra-articular scapular fractures managed with open reduction and internal fixation.
Methods: 12 patients over a period of 3 years (2012-2014) were included in the study. Post-operative functional outcomes were assessed using mean quick DASH (Disability of arm, hand and shoulder) score while radiological outcomes were analyzed as percentage of implant cut-through, mal-union, non-union or infection.
Results: The mean follow up was 14 months. Mean age was 40 years. The mean quick DASH score was 7.19 +/- 4.86. All of the patients had successful clinical and radiological healing and pain-free movements. ).Mean pre-operative medial/lateral displacement was 10.36mm while post operatively it was calculated as 0.86 mm. Mean pre-operative and post-operative translations were 16.17mm and 1.35mm respectively
Conclusions: Open reduction and internal fixation in displaced intra-articular scapular-fractures yields exceptional and promising outcomes.
Scapula, Spine, Follow-Up Studies, Fracture Fixation, Intra-Articular Fractures, Retrospective Studies.
Bahir Dar University, Ethiopia
Getachew Desta completed his Doctor of Medicine at Gondar University and has one and half years of working experience as a Lecturer at Bahir Dar University. Currently, he is a fourth-year Resident in Surgery at Bahir Dar University.
Background: Craniopagus parasiticus is a rare medical case and it is unique unlike other cases reported from different literature. The head of parasitic twins is protruding from the temporal area of cranium. Parasitic head has two deformed lower limbs; one is too rudimentary attached to the mass; long bones of bilateral lower limbs and some pelvic bones. After dissection of the mass, the intestine was seen but no chest organs and other abdominal organs. There is also rudimentary labium but no vaginal opening.
Case Presentation: A 38-year-old multigravida (gravida V para IV) women from Amhara ethnicity referred from rural health center to referral hospital due to prolonged second state of labor at 42+1 weeks. Upon arrival, she had contraction, term sized gravid uterus, and fetal heart beat was 112. On digital pelvic examination the cervix was fully diluted, station of the head was high and the pulsating umbilical cord coming in front of the presenting part with ruptured membrane but yet in the vaginal canal. The team decided emergency cesarean section and then a live female infant weighing 4200 g was delivered. The placenta was single and normal. The APGAR scores were seven and nine at one and five min, respectively. The infant appeared to be grossly normal except the parasitic co-twin attached at the cranium. The neonate was investigated with the available investigations (CBC, X-Ray, Doppler ultrasound) and pediatric side consultation made. After a week of counseling and investigations, successful separation operation was done. During post-operative time, the neonate was comfortably suckling on breasts and no neurological deficit. The details of the surgery, post- operative condition & subsequent follow up will be discussed during the conference.
Conclusion: The possible etiologies of craniopagus parasiticus are still unknown due to a rarity of cases. Doctors, genetic scientists, epidemiologists and researchers continue to investigate this case as the reasons that could give clue to birth defect and to provide answer for better prognosis of cases and improve the life chances of the twins. This case will have some input in the effort to know the etiology and pathogenesis of this new borns.
Government Medical Hospital, Patiala, India
Dr.Suhirad has completed his MBBS from Government Medical College Patiala, Punjab, India in the year 2013. Presently he is working as Junior resident at orthopedic department of Government medical college, Patiala, Punjab, India.
Fractures of the humeral shaft account for roughly 3% of all fractures, most can be treated non operatively. The Management of these fractures has been evolving since the development of new techniques and new implants.In recent times, more and more cases are being operated, in view of the advantages of operative treatment.. Operative treatment results in a more predictable alignment and faster healing which makes early mobilisation possible.When surgery is required,intramedullary nails or plates may be used, depending on the fracture pattern.During present study 30 cases of fractured shaft of humerus were considered,of which15 were fixed with Minimally Invasive Plate Osteosynthesis (MIPO) and 15 with an Interlocking Nailing . The results of MIPO and Interlocking Nailing in the treatment of fracture shaft of humerus were compared with reference to the time of healing, functional outcome, complications like infections, failure of implant and neurovascular injuries. The advantages and disadvantages of Intramedullary Nailing and MIPO were also discussed. According to the present study humeral shaft fractures were successfully treated with MIPO technique,while having lower complication rates than Intramedullary nailing.
Kings College, London
Professor El Miedany, graduated from Ain Shams University, Cairo, Egypt with an honor degree in 1984. He underwent early postgraduate training at the University Hospitals. He furthered his training in rheumatology at the Centre for Rheumatic Diseases, Royal Infirmary, Glasgow University; where he carried out his MD thesis about pulmonary affection in patients with rheumatoid arthritis and whether it is genetically related. Dr. El Miedany got Diploma in internal medicine, Master degree and MD in Rheumatology. Dr. El Miedany has been appointed Professor of Rheumatology and Rehabilitation, Ain Shams University, Egypt, since 2005. Currently he is honorary senior clinical lecturer, King’s college, London; and also Consultant Rheumatologist, NHS England. Prof. El Miedany is a fellow of the Royal College of Physicians (FRCP, London), American College of Rheumatology, British Society for Rheumatology and is a regional coordinator for the Paediatric Rheumatology International Organization (PRINTO). Prof. El Miedany works closely with skilled and highly motivated medical colleagues and a team of dedicated musculoskeletal occupational and physiotherapists. This allows access to the full range of therapies available for simple and complex musculoskeletal disease including the Biologic therapies. He has special interest in Musculoskeletal Ultrasonography with wide experience in both diagnostic and US guided therapeutic procedures. He was an early proponent of the targeted treatment of inflammatory arthritis and the importance of measuring disease activity as well as patient reported outcomes in order to help guide treatment decisions. Prof. El Miedany has more than 200 publications published in international peer reviewed journals as well as elite conferences such as EULAR, ACR and BSR. He has been an invited speaker at many international rheumatology meetings and symposia worldwide. He authored/ co-authored several chapters in international rheumatology text books and has been the editor for 3 books, Publisher Springer. He is a reviewer for several international rheumatology journals and is associate editor for BMC: Musculoskeletal. His h-index is 20 and i10-index of 30. His has a research gate score of 40.17. His is currently working on a new book about “Comorbidity in Rheumatic Diseases” (Publisher: Springer). His website: www.rheumatology4u.com, provides specialized help to both patients suffering from variable rheumatic diseases as well as rheumatologists and specialist rheumatology nurses.
Evaluation of patients presenting with carpal tunnel syndrome (CTS) symptoms has long relied on their clinical assessment as well as nerve conduction studies. However, whilst standard symptoms and positive provocative testing may enable identifying some of the cases, the subjectivity and sensitivity of these measures results in very poor reliability and diagnostic accuracy. Similarly, though studies revealed sensitivity and specificity data in favour of electrodiagnostic testing for the CTS diagnosis, abnormal nerve conduction testing results do not necessarily equate to the correct diagnosis. Nerve conduction studies can be normal in early cases. Furthermore, nerve studies were reported as not sensitive to change or management, hence, a poor predictor of treatment outcomes. Inspite of some limitations, ultrasonography was found to be a good tool not only for the CTS diagnosis, but also for identifying the median affection severity. The search for markers identifying key targets for the assessment of major outcomes in musculoskeletal diseases has become one of the hot issues in rheumatology. Possible markers should be objectively measured, indicatory of normal biology as well as the pathologic process, indicator of response to therapy and prognosis. It should also be a good indicator of modification of the pathological process and help to identify (in early cases) the patients who are going to respond quickly to therapy with the vision to tailor management to the patient status. This presentation will discuss the outcomes of a recent study investigating the feasibility of initial CTS assessment parameters for setting up a treatment plan tailored to the patient’s needs and its ability to predict treatment outcomes.
University College London, London
In recent years, a significant amount of effort has been dedicated to the development of both nano- and micro-technologies as they offer endless possibilities with regards to their biological applications. At the forefront of these technologies is the synthesis of particles for various applications in targeted drug and growth factor delivery, gene therapy, medical imaging and tissue engineering. In this study, we used the layer-by-layer self-assembly method to synthesize protein-based microparticles using extracellular matrix proteins, such as collagen and fibronectin, in a simple and scalable way. Particle characterisation was performed using fluorescence microscopy, zeta potential analysis and scanning electron microscopy. Furthermore, two different cell types were used to investigate microparticle toxicity, attachment and/or internalisation. The results obtained not only showed a significant reduction in the cytotoxicity of these protein-based particles but also a significant increase in their attachment and internalisation by cells compared to their polymeric counterparts. In addition, we provide evidence for use of such particles in achieving the sustained release of bone morphogenic protein-2 which is widely used for bone tissue engineering. This study has implications in the development of functional, biocompatible and non-toxic particles for intra and extra-cellular targeting and sustained release of various drugs, growth factors and genetic materials for numerous applications in medicine.
Ealing Hospital, UK
Francesca Mellor works as a scientific trainee with Ealing Hospital, UK
Background: Osteitis condensans ilii refers to an increase in bone density (sclerosis) located on the inferomedial aspect of the ilium adjacent to the sacroiliac joint. It is often bilateral, symmetric and triangular. It is a rare condition of benign cause of axial low back pain. The reason remains unknown since it is first described in 1926. Typically affected females following pregnancy, males and nulliparous females have also been reported.
Objectives: Aim of this study is to describe diagnostic process and management of OCI as a rare condition of low back pain and to compare the findings with the available data from literature.
Method: A 29-year-old woman presented with lower back pain and polyarthralgia without a history of trauma or injuries. She was an office worker and the condition affected her daily life activities and disturbed her night sleep. She found it particularly difficult to lie flat and get in and out of bed. No other comorbidities were recorded.
Clinically: Paraspinal and midline tenderness at L4/L5 levels, good spinal flexion, neurovascular intact. Hip examination was unremarkable. Distraction, compression FABER and Gaenslen's test for sacroiliac joints were positive. Radiology findings demonstrated well defined sclerotic area, adjacent to left SIJ only on the iliac side. The SIJ was well preserved without any joint erosion. Further MRI scan of LS spine and pelvis were performed to rule out other reasons for lower back pain. Laboratory studies have shown: Vitamin D deficiency, hyperthyroidism, normal CRP and ESR and Rh factor. Further testing for HLA antigen was performed. Conservative treatment modalities like physiotherapy and non-steroidal anti-inflammatory medication was employed.
Results: Conservative measures taken have led to satisfactory symptoms control.
Conclusions: OCI is a rare cause of lower back pain. Detailed history, examination, XR and MRI imaging must be obtained to diagnose and exclude other reasons for lower back pain. Further laboratory tests are also required to distinguish this idiopathic condition from ankylosing spondylitis, seronegative spondyloarthropathy, metastatic disease or sacroiliitis. It is often seen following pregnancy but no clear association between OCI and pregnancy have been shown. The condition could represent a diagnostic challenge in patients with polyarthralgia. Conservative treatment is normally sufficient to achieve symptoms control.
Clare Byrne is a General Medical Registrars at Blackrock Clinic. Byrne studied her MBChB at University of Aberdeen; BSc at University College London and; is currently pursuing her MSc in Skin Ageing & Aesthetic Medicine at University of Manchester. Jane McManus completed Medical Degree at Trinity College, Dublin and MSc in Public Health.
Granuloma Annulare (GA) is a benign skin condition of unknown aetiology which presents with papules, often in an annular distribution. GA can mimic or occur in association with other conditions including morphoea. Histologically both show vascular damage, altered collagen, and lympho-histiocytic infiltrates. While GA has inflammation and fragmented collagen bundles, necrobiosis and granulomatous formation with mucin distribution and multi-nucleated giant cells, morphoea demonstrates dermal fibroblast excess. We outline an unusual presentation of GA initially thought to be morphoea. While rare, there are reported cases of both occurring together and of GA presenting with a similar uncharacteristic appearance. Clinical correlation is essential to establish a diagnosis given the overlap in histopathology. A 43-year-old woman was presented with a five-week history of painful swelling and discoloration of the left forearm. Negative Doppler’s excluded thrombosis. She was treated with flucloxacillin for cellulitis but returned one month later with worsening symptoms including morning stiffness in the wrists, small joints of the hands and bilateral forearm swelling. Rheumatology review identified swelling and tenderness over the left wrist and first MCP-joint, knees, hips and forearms. There was a dusky erythematous rash and sclerodactyly with thickened skin over the entire left forearm. ANA was weakly positive. The arthralgia raised concerns that this might represent early manifestation of an autoimmune disease. Morphea was provisionally diagnosed. Following exclusion of malignancies, dermatology agreed with this diagnosis. However, biopsies were consistent with GA despite the atypical presentation. She responded to methotrexate, deltacortril and Elocon cream.
Institute of BioInnovation Research, Korea
Heonsik Choi works with Kolon Life Science Inc., South Korea and has lot of publications in multiple journals.
Background & Aim: INVOSSA™ (TissueGene-C) is a novel cell and gene therapy for osteoarthritis (OA). The phase III clinical study has been completed and its outcome showed that INVOSSA™ improved pain, daily activities, sports functions and cartilage structure in patients with OA. Here, we hypothesized that treatment of INVOSSA™ may induce an anti-inflammatory environment, especially M2 macrophage differentiation, which contributes to the reduction of the pain and cartilage regeneration. In this study, we evaluated the effect of INVOSSA™ on pain and structural improvements with its anti-inflammatory modulations in the arthritic knee joints of a rodent OA model.
Method: The in vivo efficacy of INVOSSA™ or each component of INVOSSA™ and a vehicle control (CS-10) were analyzed in a rat MIA model. Pain behavior was assessed by von Frey filament test, and cartilage regeneration was analyzed by various histological staining. To evaluate the anti-inflammatory effect of INVOSSA™, various cytokines were analyzed by a multiplex assay using synovial fluid. The synovial macrophage differentiation profiles were investigated by immunohistochemistry with CD86 as M1 marker and arginase 1 as M2 marker. Gene expression profiles were analyzed by quantitative RT-PCR.
Results: Pain relief was shown initially at day 15 and maintained up to 56 days post INVOSSA™ treatment. The regenerated cartilage showed hyaline cartilage characteristics post INVOSSA™ treatment. Cytokine expression profiles in synovial fluid showed that INVOSSA™ induced IL-10, which was consistent to the observation of CD68-positive monocyte infiltration to the synovial membrane. Furthermore, the INVOSSA™ attracted more arginase 1-positive cells to the synovial membrane. However, the number of CD86-positive cells post INVOSSA™ treatment was comparable to the control treatment. Quantitative RT-PCR analysis also showed that M2 macrophage related markers were highly up-regulated in the synovial membranes in INVOSSA™ treated group.
Conclusion: This study supports that INVOSSA™ holds a great potential for a disease modifying osteoarthritis drug.
St Helens and Knowsley Teaching Hospitals, UK
Alexios Dosis works with St Helens and Knowsley Teaching Hospitals, UK.
Introduction: Arthrodesis of the first metatarsophalangeal joint is a well-recognized procedure for treatment of end stage arthritis of the hallux. Several studies have shown that nonunion is a common complication with variable rates in literature. In this study, we undertook a 6-year review to identify the rate of nonunion and other complications of arthrodesis of the first MTPJ in our local hospitals.
Methods: Cases from January 2010–January 2016 were enrolled in the study. Data collection was retrospective. In an effort to minimize losses, only patients that were followed up for at least six months or were discharged from clinic with radiological evidence of fusion were included. Several other data were collected including indications for the procedure and techniques used. As no national data available, we decided to compare our rates with Roukis TS (Nov 2011- JFAS) systematic review on nonunion of first MTPJ arthrodesis.
Results: 87 patients were evaluated. One was excluded as did not attend the appointments. 78% were predominantly female patients. Median age was 65 years. Indications included hallux valgus (43%), hallux rigidus (43%) and rheumatoid arthritis (14%). Dorsal plate and screws was by far (94%) the most common technique used. Nonunion rate in our study was 3.5%, while delayed union occurred in 4.6%. 13/86 (15%) patients complained for persistent pain that affected their quality of life postoperatively. 7/86 (8.1%) underwent removal of metalwork. Infection was denoted as a complication in 15 patients (17.4%), the majority of which (73%) were managed conservatively. Median length of follow-up was 129 days.
Conclusion: Overall, first MTPJ arthrodesis is a safe and efficient procedure. The incidence of nonunion and hardware removal were below the rates described in Roukis study (5.4% and 8.5%, respectively), however attention needs to be drawn to improve the infection rates.
Mohammad Amin Eshaghi has completed his study at age of 29 as an orthopedic surgeon from Esfahan university of medical sciences.
Xanthogranulomatous osteomyelitis is a rare type of inflammatory process which is characterized by composition of immune cell aggregation on histological studies.Delayed-type hypersensitivity reaction of cell mediated immunity may be implicated in its pathogenesis.Gross and radiological examination can mimic malignancy, and differentiation should be confirmed by histopathological evaluation.We describe the case of a 14 –year-old Afghan boy presenting with pain in right shoulder and left leg with prior history of trauma.Fever, limitation in right shoulder range of motion, and tenderness in right shoulder and left thigh werw detected following examination.Mild leukocytosis, elevated alkalin phosphatase, and increased erythrocyte sedimentation rate with negative C-reactive protein(CRP)were revealed.X-ray imaging showed mixed density, periosteal reaction with soft tissue component, and bone marrow infiltration in right humerus and left fibula.On magnetic resonance imaging(MRI), signal abnormalities in medulla, metaphysis, and diaphysis of left fibula associated with cortical irregularity and diffuse soft tissue hyper signal areas were demonstrated.Finally, xanthogranulomatous osteomyelitis was confirmed by histological sample.The clinical manifestations and radiographic and laboratory findings of this rare condition are discussed. Keywords:Xanthogranulomatous osteomyelitis, Humerus,Fibula,Inflammatory.
Suez Canal University, Egypt
Nermeen Hassan works with department of Medicine at Suez Canal University, Egypt
Background: Systemic lupus erythematosus (SLE) is a multifactorial, systemic, chronic autoimmune disease affecting connective tissue. A number of genetic susceptibility loci, conferring high risk for SLE, have been identified. Current evidence shows that the cluster of differentiation (CD) 40-CD40 ligand (L) system plays a crucial role in the development, progression and outcome of SLE. There were no previous studies, to our knowledge, about CD40 single-nucleotide polymorphism (SNP) among Egyptian SLE patients.
Aim: The aim of this work is to compare the frequency of CD40 SNP among patients with SLE versus healthy controls and to evaluate the relationship between CD40 SNP and the clinical picture of the disease.
Methods: The sample populations included two groups; 78 patients of SLE and 78 subjects of healthy control. The study was conducted at Physical Medicine, Rheumatology and Rehabilitation department of Suez Canal University Hospital. Genotyping for CD40 rs4810485 was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP).
Results: GG and TT genotypes were significantly higher among SLE group (41.0% and 15.4%, respectively) in comparison to control group (10.3% and 2.6%, respectively) (p<0.0001). G allele was higher among SLE group versus control group (62.8% and 53.8%, respectively), but without significant difference (p>0.05). GG and TT genotypes carry significantly higher risk in SLE group versus control group (OR=6.1 and 6.9, respectively) (p<0.0001), which mean more than 6-folds risk. G allele carry higher risk in SLE group versus control group (OR=1.4), but without significant difference (p>0.05). The frequencies of skin rash, lupus nephritis, pyuria, urinary casts, hypocomplementemia C4, leucopenia and lymphopenia were significantly higher among patients with genotype GG versus patients with genotypes GT & TT in SLE group.
Conclusions: GG and TT genotypes were significantly higher and carry higher risk in SLE group versus control group. There was significant relationship between CD40 SNP and some features of SLE.