Aetiopathology of rheumatoid arthritis
Rheumatoid arthritis (RA) has a multifactorial aetiopathogenesis with both genetic and environmental factors implicated, giving rise to immune dysregulation with resultant joint inflammation and tissue damage. The emergence of biologic and small molecular targeted therapeutics has validated the role of many key molecules and cells in the pathogenesis of RA. In this article we update our previous review, adding any new developments within the last couple of years with regards to the major contributors to RA pathogenesis, including genetics, cellular components, cytokines and new potential signalling mechanisms and targets. (Source: Medicine)
Source: Medicine - January 25, 2022 Category: Internal Medicine Authors: Peter C. Taylor, Serafim Kiriakidis Tags: Rheumatoid arthritis Source Type: research

Clinical features of rheumatoid arthritis
Rheumatoid arthritis (RA) is a multiorgan chronic inflammatory condition that affects>430,000 people in the UK, constituting approximately 0.84% of the UK population. The cardinal clinical feature is a symmetrical polyarthritis that predominantly affects the small joints. RA can affect other components of the musculoskeletal system (bursitis, tendinopathy, muscle atrophy, osteoporosis) and almost every organ in the body. Extra-articular manifestations of RA can be cutaneous, haematological, neurological, pulmonary, cardiac, renal and ocular. (Source: Medicine)
Source: Medicine - January 25, 2022 Category: Internal Medicine Authors: Matthew Colquhoun, Malvika Gulati, Ziad Farah, Maria Mouyis Tags: Rheumatoid arthritis Source Type: research

Chronic arthritis in children and young people
Arthritis affects 1 in 1000 children and young people and is a major cause of potential morbidity, with significant long-term consequences, joint damage and disability if undiagnosed and not treated appropriately. Diagnosing juvenile idiopathic arthritis (JIA) can be challenging and relies on suspicion, careful clinical assessment and judicious interpretation of investigations, which although helpful to exclude other conditions, can be normal in JIA. The clinical history can be vague, and the child may be too young to verbalize symptoms; detailed probing for inflammatory symptoms and a comprehensive examination of the chil...
Source: Medicine - January 25, 2022 Category: Internal Medicine Authors: Diarmuid McLaughlin, Matthew Keir, Helen Foster, Sharmila Jandial Tags: Juvenile arthritis Source Type: research

Psoriatic arthritis and other spondyloarthritides
The spondyloarthritides (SpA) are a group of overlapping chronic immune-mediated inflammatory diseases, the most common being psoriatic arthritis (PsA) and axial spondyloarthritis. Other, less common diseases within the SpA family include reactive arthritis, enteropathic arthritis and SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis). Shared features include a propensity to affect the peripheral and axial skeleton through enthesitis and synovitis, cutaneous and/or nail psoriasis, uveitis, inflammatory bowel disease, the absence of rheumatoid factor and an increased frequency of HLA-B27 variants. (Source: Medicine)
Source: Medicine - January 25, 2022 Category: Internal Medicine Authors: Deepak Rohit Jadon, Beverly Cheok Kuan Ng Tags: Spondyloarthropathies Source Type: research

Biologic and advanced therapy registers in rheumatoid arthritis
The introduction of biologic disease-modifying anti-rheumatic drugs (bDMARDs) has improved outcomes in patients with rheumatoid arthritis (RA), although there are concerns about the long-term safety of these drugs, especially lymphoma and serious infection. Biologic registers have been established to investigate the long-term safety and effectiveness of biologic drugs in RA. To date, publications from biologic registers have focused mainly on anti-tumour necrosis factor (TNF) therapy, although reports of outcomes after other biologic classes are increasing. (Source: Medicine)
Source: Medicine - January 25, 2022 Category: Internal Medicine Authors: Man-Fung Tsoi, Kimme L. Hyrich Tags: Spondyloarthropathies Source Type: research

Bone and joint infections
The joint is a common site of musculoskeletal infection in adults. Septic arthritis is the most serious, although not the most frequent, cause of a hot, swollen joint or joints. The diagnosis rests principally on clinical suspicion. Investigation of suspected joint sepsis is urgent in order to avoid significant morbidity and mortality. This review covers the aetiology, pathogenesis, clinical features, investigation and management of native joint sepsis in adults, highlights the gaps in the evidence base regarding its pharmacological management and suggests some areas for future research. (Source: Medicine)
Source: Medicine - January 25, 2022 Category: Internal Medicine Authors: Catherine J. Mathews, Amelia M. Holloway Tags: Spondyloarthropathies Source Type: research

The rheumatological heritable disorders of connective tissue
The genetically determined rheumatological connective tissue disorders constitute a group of phenotypically related inherited conditions caused by aberrations in genes encoding for the fibrous connective tissue matrix proteins (collagens, elastins, fibrillins, tenascins). In most (but not all) of these conditions, the precise genetic cause has been identified. A common clinical feature is joint hypermobility. The frequently encountered, yet largely neglected, hypermobile type of Ehlers –Danlos syndrome and hypermobility spectrum disorder are both sources of much unrecognized morbidity and unnecessary suffering in the com...
Source: Medicine - January 25, 2022 Category: Internal Medicine Authors: Hanadi Kazkaz, Rodney Grahame Tags: Inherited disorders of connective tissue Source Type: research

Self-assessment/CPD answers
Question 1 (Source: Medicine)
Source: Medicine - January 25, 2022 Category: Internal Medicine Tags: Self-assessment/CPD answers Source Type: research

Analysis of symptomatic recurrences of common bile ducts stones after endoscopic removal: Factors related to early or multiple recurrences
Early or multiple recurrences of symptomatic common bile duct (CBD) stones are troublesome late complications after endoscopic stone removal. We aimed to determine the factors related to early or multiple recurrences of CBD stones. We retrospectively analyzed patients who underwent endoscopic CBD stone extraction in a single institute between January 2006 and December 2015. Patients were divided into 2 groups according to the number and interval of CBD stone recurrences: single versus multiple (≥2) and early ( (Source: Medicine)
Source: Medicine - January 21, 2022 Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research

The efficacy and safety of neoadjuvant nimotuzumab for gastric cancer: A meta-analysis of randomized controlled studies: Erratum
No abstract available (Source: Medicine)
Source: Medicine - January 21, 2022 Category: Internal Medicine Tags: Erratum Source Type: research

Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report
Rationale: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by facial angiofibromas, epilepsy, intellectual disability, and the development of hamartomas in several organs, including the heart, kidneys, brain, and lungs. Mutations in either TSC1 or TSC2 result in dysregulated mTOR activation, leading to the occurrence of TSC. Patient concerns: A 44-year-old man was hospitalized for acute lumbago and hematuria. Diagnosis: The patient presented with facial angiofibromas, epilepsy, fibrous plaques, periungual fibroma, renal angiomyolipomas (AML), pulmonary lymphangiole...
Source: Medicine - January 21, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Hemangioblastoma masquerading as a ring enhancing lesion in the cerebellum: A case report
We present a 33-year-old female who was admitted to our department because of headaches, unstable walking, and visual loss in both eyes. Cranial nerve examination revealed deficits in cranial nerve II. Diagnosis: Magnetic resonance imaging revealed 2 cystic lesions in the cerebellum, with irregular ring-enhanced cyst walls composed of smaller nodular parts. Immunohistochemical staining of resected specimens established HGBM. Interventions: The lesions were completely resected using a right retrosigmoid approach. Outcomes: Two years of follow-up revealed no recurrence of her symptoms or tumor. She is cu...
Source: Medicine - January 21, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Successful treatment of locally advanced bulky cervical cancer complicated by irreducible complete uterine prolapse: A case report
This study has important clinical implications and may provide a therapeutic strategy to address unmet medical needs in combination with locally advanced cervical cancer complicated by irreducible complete uterine prolapse. These conditions were successfully treated using a multidisciplinary approach of chemoradiotherapy followed by radical hysterectomy and uterosacral ligament suspension. (Source: Medicine)
Source: Medicine - January 21, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Unilateral pachydermodactyly misdiagnosed as juvenile idiopathic arthritis: A case report
Rationale: Pachydermodactyly is a rare, benign disease that can manifest in healthy adolescent boys as painless, spindle-shaped, soft-tissue swelling of the proximal interphalangeal joints in the hand. It is usually bilateral, with symmetrical joint enlargement. There are relatively few documented cases of pachydermodactyly worldwide, signifying either a low incidence or lack of recognition by physicians; therefore, its diagnosis is challenging. Patient concerns: A 16-year-old boy with a 3-year history of painless unilateral swelling of the proximal interphalangeal joints of his left hand was misdiagnosed with j...
Source: Medicine - January 21, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Secondary glaucoma with anterior chamber cholesterolosis: Case series
Rationale: The presence of cholesterol crystals in the anterior chamber is extremely rare, and secondary glaucoma with cholesterol crystals in the anterior chamber, reported in the literature, is even rarer. This paper reports 3 cases of secondary glaucoma with cholesterol crystals in the anterior chamber. Patient concerns: Three patients were admitted to the hospital because of ocular distension and blindness. Ocular examination on admission indicated high intraocular pressure, and crystalline gold substances were observed in the anterior chamber. Diagnosis: Based on clinical manifestations and an aqueou...
Source: Medicine - January 21, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research