Rheumatology

Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone (2024)

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Type of publication:Journal article

Author(s):Phillips, Jonathan; Subedi, Deepak; Lewis, Steff C; Keerie, Catriona; Cronin, Owen; Porteous, Mary; Moore, David; Cetnarskyj, Roseanne; Ranganath, Lakshminarayan; Selby, Peter L; Turgut, Tolga; Hampson, Geeta; Chandra, Rama; *Ho, Shu; Tobias, Jon; Young-Min, Steven; McKenna, Malachi J; Crowley, Rachel K; Fraser, William D; Tang, Jonathan C Y; Gennari, Luigi; Nuti, Rannuccio; Brandi, Maria Luisa; Del Pino-Montes, Javier; Devogelaer, Jean-Pierre; Durnez, Anne; Isaia, Giovanni Carlo; Di Stefano, Marco; Guanabens, Nuria; Blanch Rubio, Josep; Seibel, Markus J; Walsh, John P; Rea, Sarah L; Kotowicz, Mark A; Nicholson, Geoffrey C; Duncan, Emma L; Major, Gabor; Horne, Anne; Gilchrist, Nigel; Ralston, Stuart H.

Citation:Annals of the Rheumatic Diseases. 83(4):529-536, 2024 Mar 12.

Abstract:INTRODUCTION: Paget's disease of bone (PDB) frequently presents at an advanced stage with irreversible skeletal damage. Clinical outcomes might be improved by earlier diagnosis and prophylactic treatment. METHODS: We randomised 222 individuals at increased risk of PDB because of pathogenic SQSTM1 variants to receive 5 mg zoledronic acid (ZA) or placebo. The primary outcome was new bone lesions assessed by radionuclide bone scan. Secondary outcomes included change in existing lesions, biochemical markers of bone turnover and skeletal events related to PDB. RESULTS: The median duration of follow-up was 84 months (range 0-127) and 180 participants (81%) completed the study. At baseline, 9 (8.1%) of the ZA group had PDB lesions vs 12 (10.8%) of the placebo group. Two of the placebo group developed new lesions versus none in the ZA group (OR 0.41, 95% CI 0.00 to 3.43, p=0.25). Eight of the placebo group had a poor outcome (lesions which were new, unchanged or progressing) compared with none of the ZA group (OR 0.08, 95% CI 0.00 to 0.42, p=0.003). At the study end, 1 participant in the ZA group had lesions compared with 11 in the placebo group. Biochemical markers of bone turnover were significantly reduced in the ZA group. One participant allocated to placebo required rescue therapy with ZA because of symptomatic disease. The number and severity of adverse events did not differ between groups. CONCLUSIONS: Genetic testing for pathogenic SQSTM1 variants coupled with intervention with ZA is well tolerated and has favourable effects on the progression of early PDB. TRIAL REGISTRATION NUMBER: ISRCTN11616770.

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Rheumatoid nodule presenting as a Morton's neuroma in the foot: An important differential diagnosis to consider (2023)

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Type of publication:
Journal article

Author(s):
*Patel R; Nand R; Sunderamoorthy D

Citation:
Radiology Case Reports. 18(7):2416-2419, 2023 Jul.

Abstract:
A 51-year-old lady with a background of rheumatoid arthritis presented to the foot and ankle clinic with pain and a typical history of Morton's neuroma. Examination revealed a palpable swelling over the right foot in the third intermetatarsal space. Following failed conservative management, the patient underwent excision of the neuroma. Histology revealed of necrotizing granulomas with peripheral palisading and no evidence of features specific to a neuroma. This has rarely been described previously and supports the concept of rheumatoid synovitis and nodules producing symptoms mimicking Morton's neuroma/metatarsalgia

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Rheumatoid nodule presenting as an indeterminate soft tissue mass in the sole of the foot (2023)

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Type of publication:
Journal article

Author(s):
*Patel R.; Nand R.; Sunderamoorthy D.

Citation:
Journal of Surgical Case Reports. 2023(5) (no pagination), May 2023.

Abstract:
A 64-year-old lady with a background of rheumatoid arthritis presented to the foot and ankle clinic with lump underneath the sole of her foot causing significant discomfort. Examination revealed she had a swelling of the first and the second metatarsophalangeal joints. Magnetic resonance imaging revealed abnormal soft tissue thickening between the second and the third metatarsal and a single large encapsulating indeterminate soft tissue mass with a peripheral inflammatory rim. The appearance was suggestive of a malignant sarcoma rather than a rheumatoid nodule or rheumatoid tenosynovitis. The patient was referred to the regional sarcoma unit where the scans were reviewed, and a sarcoma was ruled out. The patient then underwent excision of the indeterminate soft tissue mass. Histology revealed granulomatous infiltration suggestive of a rheumatoid nodule. This has not been described previously in the literature.

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The need to accurately measure energy intake and expenditure in patients with systemic sclerosis (2022)

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Type of publication:Journal article

Author(s):Hughes M.; *Harrison E.; Herrick A.L.; McLaughlin J.T.; Lal S.

Citation:Journal of Scleroderma and Related Disorders, 7(3):217-223, 2022 Oct.

Abstract:Background: Malnutrition is common in systemic sclerosis and patients are frequently underweight. However, the balance between assessed dietary energy intake versus expenditure has been neglected to date. This study aimed to assess energy (dietary) intakes and expenditures and to compare discrepancies in systemic sclerosis.Method(s): Thirty-six outpatients with systemic sclerosis completed the study. Demographics and clinical data were recorded. Functional questionnaires were completed. Predicted energy requirements were calculated. Over a consecutive 3-day period, patients completed an estimated food diary and wore a specialist energy expenditure monitor (SenseWear Armband). Assessments of intake and expenditure were compared for individual patients, and the impact according to patient demographics, clinical manifestations and disease severity evaluated.Result(s): Energy intake did not correlate with predicted (s = 0.117; p = 0.511) or measured (s = -0.039; p = 0.825) expenditures. Predicted and measured energy expenditures correlated, but actual values differed for individuals (intraclass correlation = 0.62; 95% limits of agreement = -459 to 751 kcal). Respiratory involvement was negatively correlated with number of steps (s = -0.350; p = 0.04) and time spent lying (s = 0.333; p = 0.05). There was a significant correlation between body mass index and predicted versus measured energy discrepancy (s = 0.41; p = 0.02), and this discrepancy was greater with higher body mass indices.Conclusion(s): There was no correlation between intake and either predicted or measured energy expenditure. Predicted and measured energy expenditures were strongly correlated yet differed for the individual patient. In patients with systemic sclerosis, where energy expenditure must be accurately assessed, it should be directly measured.

Successful diagnosis of gout with use of dual energy CT in a patient presenting with atypical symptoms and negative aspiration (2021)

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Type of publication:Conference abstract

Author(s):*Goel N.; *Amarasena R.

Citation:International Journal of Rheumatic Diseases; Sep 2021; vol. 24 ; p. 177

Abstract:A 42 year old Caucasian gentleman presents with acute left knee swelling, developed over 3 days without preceding trauma. He was referred to Trauma and Orthopaedics who aspirated the knee, finding no organisms or crystals. Following readmission 4 days later with the same complaint, re-aspiration again showed no crystals or organisms. MRI of the left knee showed femoral condyle oedema, initially suggesting Osteomyelitis, but on re-discussion with the radiologist seemed unlikely. The patient was started on Indomethacin and referred to Rheumatology. Despite having some symptomatic relief, he developed progressive swelling in the left calf, ankle and foot. Blood tests confirmed raised D-Dimer and rising CRP: 142 (ref range 0-5). Ultrasound Doppler of the left leg revealed no evidence of DVT, but did show pockets of fluid in the lower thigh, which were noted on previous MRI. X-rays of the knee and ankle did not show any pathological changes. Following Rheumatology review, it was postulated that he could have myofasciitis or infection. RF and CCP were found to be negative with normal complement levels and CK. Further MRI of the left leg showed progressive persistent oedema in the lateral femur. He was commenced on Intravenous flucloxacillin and diclofenac for suspected infection. Following 10 weeks of investigations and management, an MDT discussion opted for Dual Energy CT scan to look for evidence of gout. The Dual Energy CT scan showed extensive gout crystal deposition in the left knee, as well as affecting the popliteus tendon. He was commenced on Prednisolone, counselled on lifestyle factors and later started on Allopurinol that was up-titrated with bridging Colchicine, with excellent response. This case highlights the advances in Dual Energy CT scanning in helping to diagnose gout in those patients with atypical presentation and negative results on needle aspiration.

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Rothia mucilaginosa: a case of septic arthritis in a native knee and review of the literature (2021)

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Type of publication:
Journal article

Author(s):
*Daoub, Ahmed; *Ansari, Hamza; *Orfanos, George; *Barnett, Andrew

Citation:
BMJ case reports; Jan 2021; vol. 14 (no. 1)

Abstract:
Rothia mucilaginosa is a Gram-positive aerobic coccus usually found in the oral and respiratory tract. Septic arthritis is an uncommon condition, but is an orthopaedic emergency. A rare case of knee septic arthritis due to R. mucilaginosa is presented. Patient management and outcomes are discussed, and learning points from this case are outlined to help manage any further cases that may arise.

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