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3.
Int J Rheum Dis ; 27(5): e15157, 2024 May.
Article En | MEDLINE | ID: mdl-38720410

Large language models (LLMs) like GPT-4 and Claude are catalyzing transformation across medical research including rheumatology. This review examines their applications, highlighting the pivotal role of prompt engineering in effectively guiding LLMs. Key aspects explored include literature synthesis, data analysis, manuscript drafting, coding assistance, privacy considerations, and generative artificial intelligence integrations. While LLMs accelerate workflows, reliance without apt prompting jeopardizes accuracy. By methodically constructing prompts and gauging model outputs, researchers can maximize relevance and utility. Locally run open-source models also offer data privacy protections. As LLMs permeate rheumatology research, developing expertise in strategic prompting and assessing model limitations is critical. With proper oversight, LLMs markedly boost scholarly productivity.


Biomedical Research , Rheumatology , Humans , Artificial Intelligence
4.
Int J Rheum Dis ; 27(5): e15175, 2024 May.
Article En | MEDLINE | ID: mdl-38720575

OBJECTIVE: To analyze antiphospholipid antibody (aPL)-positive patients using the 2023 American College of Rheumatology/The European Alliance of Associations for Rheumatology (ACR/EULAR) antiphospholipid syndrome (APS) classification criteria and compare the revised Sapporo criteria and the 2023 ACR/EULAR criteria and evaluate whether the 2023 ACR/EULAR criteria provide added value over the revised Sapporo criteria. METHODS: In this descriptive study, 94 aPL-positive patients (with or without APS diagnosis) were identified from two hospital-based registries (Gazi and Hacettepe University). Patients were classified into four groups to compare both criteria sets. These four groups are as follows: (1) patients classified with only the revised Sapporo criteria; (2) patients classified with only the 2023 ACR/EULAR APS criteria; (3) patients classified with both two criteria sets; and (4) patients classified with neither two criteria set. RESULTS: Of the 94 patients, 11 were classified with only the revised Sapporo criteria; one with only the 2023 ACR/EULAR APS criteria; 52 with both criteria sets; and 30 with neither set of criteria. For these 94 patients, the operating characteristics of the 2023 ACR/EULAR APS criteria, using the revised Sapporo criteria as the gold standard, the 2023 ACR/EULAR APS entry criteria demonstrated 100% sensitivity, and the 2023 ACR/EULAR APS classification criteria demonstrated 98% specificity and 82.5% sensitivity. CONCLUSION: The study emphasizes the importance of recognizing differences in clinical manifestations, such as early pregnancy loss without severe preeclampsia (PEC) and/or severe placental insufficiency (PI) and calls for a nuanced discussion on anticardiolipin (aCL) and anti-beta 2-glycoprotein-I (anti-ß2GPI) immunoglobulin G (IgG) cutoff values.


Antibodies, Antiphospholipid , Antiphospholipid Syndrome , Predictive Value of Tests , Registries , Humans , Antiphospholipid Syndrome/diagnosis , Antiphospholipid Syndrome/immunology , Antiphospholipid Syndrome/blood , Female , Male , Adult , Pregnancy , Middle Aged , Antibodies, Antiphospholipid/blood , Biomarkers/blood , Reproducibility of Results , Turkey , Young Adult , Rheumatology/standards
5.
Br J Nurs ; 33(9): 418-423, 2024 May 09.
Article En | MEDLINE | ID: mdl-38722014

Arthritis is the leading cause of disability in Ireland with knee osteoarthritis the most common presentation. One in five women and one in 10 men over the age of 60 in Ireland are diagnosed with osteoarthritis. The causative factors are multifactorial, but the increasing incidence of obesity is contributing greatly to the occurrence of osteoarthritis of the weight-bearing joints. The rheumatology advanced nurse practitioner is an autonomous clinical practitioner and potential solution to the growing numbers of people needing interventions for osteoarthritis, due to their ability to assess, diagnose, treat, and discharge these patients who ordinarily would be assessed from a medical waiting list. As obesity is becoming increasingly prevalent, it is important to address this with the patient cohort to try to reduce the burden of disease and treat not only the symptomatic knee osteoarthritis but the causative factors and provide patient-centred care.


Nurse Practitioners , Nurse's Role , Obesity , Osteoarthritis, Knee , Humans , Osteoarthritis, Knee/nursing , Ireland/epidemiology , Obesity/complications , Obesity/nursing , Obesity/epidemiology , Rheumatology , Male , Female , Middle Aged , Advanced Practice Nursing
6.
Reumatol. clín. (Barc.) ; 20(4): 175-180, Abr. 2024. graf, tab
Article En | IBECS | ID: ibc-232369

Aim of the work: To evaluate serum brain-derived neurotrophic factor (BDNF) in Egyptian patients with rheumatoid arthritis (RA) and its relation with cognitive dysfunction. Patients and methods: The study was carried out on 60 RA patients; 30 were active (group A) and 30 were non active (group B); and 30 controls (group C). RA disease activity was assessed via DAS28 tool, cognitive function via The Montreal Cognitive Assessment and depression via the PHQ depression scale. Serum BDNF levels were measured. Results: The mean age in group A was 37.8 (±9.37) years with 83.3% females, in group B was 39.97 (±8.04) years with 86.7% females and in group C was 33.17 (±3.6) years with 93.3% females. Abnormal cognitive functions test was detected in 66.7% of group A, 66.7% of group B, and in 23.3% of group C. There was a statistically significant difference in BDNF serum level between both groups of patients (1.58±0.9ng/ml for group A, 1.81±1.17ng/ml for group B) compared with the control group (3.01±1.25ng/ml, p<0.001). There was no statistically significant difference between BDNF and both disease duration and cognitive function, also no statistically significant difference regarding cognitive function, depression, and BNDF levels in patients with and without fibromyalgia. At a cut-off value of <2ng/ml, BDNF detected RA patients with cognitive dysfunction with a sensitivity of 80%, specificity of 96.67%. Conclusion: BDNF can be a potential biomarker of cognitive dysfunction in RA patients.(AU)


Objetivo: Evaluar el factor neurotrófico derivado del cerebro (BDNF) en suero en pacientes egipcios con artritis reumatoide (AR) y su relación con la disfunción cognitiva. Pacientes y métodos: El estudio se realizó en 60 pacientes con AR; 30 eran activos (grupo A) y 30 no activos (grupo B); y 30 controles (grupo C). La actividad de la enfermedad de AR se evaluó a través de la herramienta DAS28, la función cognitiva a través de la Evaluación Cognitiva de Montreal y la depresión a través de la escala de depresión PHQ. Se midieron los niveles de BDNF en suero. Resultados: La edad media en el grupo A fue de 37,8 (±9,37) años con 83,3% de mujeres, en el grupo B de 39,97 (±8,04) años con 86,7% de mujeres y en el grupo C de 33,17 (±3,6) años con 93,3% de mujeres. La prueba de funciones cognitivas anormales se detectó en 66,7% del grupo A, 66,7% del grupo B y 23,3% del grupo C. Hubo una diferencia estadísticamente significativa en el nivel sérico de BDNF entre ambos grupos de pacientes (1,58±0,9ng/mL para grupo A, 1,81±1,17ng/mL para el grupo B) en comparación con el grupo control (3,01±1,25ng/mL, p<0,001). No hubo diferencias estadísticamente significativas entre el BDNF y la duración de la enfermedad y la función cognitiva, tampoco hubo diferencias estadísticamente significativas con respecto a la función cognitiva, la depresión y los niveles de BDNF en pacientes con y sin fibromialgia. A un valor de corte de <2ng/mL, BDNF detectó pacientes con AR con disfunción cognitiva con una sensibilidad de 80% y una especificidad de 96,67%. Conclusión: BDNF puede ser un biomarcador potencial de disfunción cognitiva en pacientes con AR.(AU)


Humans , Male , Female , Adult , Middle Aged , Arthritis, Rheumatoid/diagnosis , Cognitive Dysfunction , Nerve Growth Factors , Fibromyalgia , Rheumatology , Rheumatic Diseases , Egypt
7.
Reumatol. clín. (Barc.) ; 20(4): 181-186, Abr. 2024. tab, ilus
Article Es | IBECS | ID: ibc-232370

La arteritis de la temporal (AT) es la forma más frecuente de vasculitis sistémica, su diagnóstico está basado en criterios propuestos por el Colegio Americano de Reumatología (1990), y su tratamiento son corticoides a dosis elevadas. Nuestro objetivo es valorar el gasto del diagnóstico de la AT, y secundariamente análisis coste/efectivo de distintas estrategias diagnósticas (clínica, biopsia, eco-Doppler) y terapéuticas (suspensión del corticoide). Material y método: Estudio observacional, retrospectivo de pacientes con AT (2012-2021). Se recogieron datos demográficos, comorbilidades, signos y síntomas sugestivos de AT. Se diagnosticó AT con una puntuación ≥3 según los criterios del American College of Reumatology (ACR-SCORE). Se analizaron los gastos del diagnóstico y modificación de tratamiento. Resultados: Setenta y cinco pacientes, mediana edad 77 (6-87) años. Cefalea, dolor temporal y claudicación mandibular fueron significativos para el diagnóstico de AT. Los pacientes con halo en eco-Doppler y biopsia positiva, presentaron elevación de VSG y PCR de forma significativa en comparación con los pacientes que no. El gasto diagnóstico de AT fue de 414,7€/paciente. Si empleamos ACR-SCORE≥3-eco-Doppler serían 167,2€/paciente (ahorro del 59,6%) y ACR-SCORE≥3-biopsia 339,75€/paciente (ahorro del 18%). Si se retiraba corticoide y se realizaba biopsia hubiesen sido 21,6€/paciente (ahorro del 94,7%), si se retiraba corticoide y se realizaba eco-Doppler hubiesen sido 10,6€/paciente (ahorro del 97,4%). Conclusiones: Cefalea, dolor temporal y claudicación mandibular son predictores de AT. La elevación de VSG y PCR son predictores de biopsia positiva y presencia de halo en la ecografía.El empleo de ACR-SCORE≥3 con eco-Doppler o con biopsia, y con suspensión del corticoide son coste/efectivos.(AU)


Temporal arteritis (TA) is the most common form of systemic vasculitis. Its diagnosis is based on criteria proposed by the American College of Rheumatology (1990), and its treatment is high-dose corticosteroids. Our objective is to assess the cost of diagnosing TA, and secondarily, cost-effective analysis of different diagnostic strategies (clinical, biopsy, Doppler ultrasound) and therapeutic strategies (corticosteroid suspension).Material and method: Observational, retrospective study has been carried out on patients with TA (2012–2021). Demographic data, comorbidities, signs and symptoms suggestive of TA were collected. TA was diagnosed with a score ≥3 according to American College of Rheumatoloy criteria (ACR-SCORE). The costs of diagnosis and treatment modification were analysed. Results: Seventy-five patients have been included, median age 77 (46-87) years. Headache, temporal pain and jaw claudication were significant for the diagnosis of TA. Patients with a halo on Doppler ultrasound and a positive biopsy have significantly elevated ESR and CRP compared to patients who do not.: The cost of the TA diagnosis was 414.7 euros/patient. If we use ACR-SCORE≥3-echodoppler it is 167.2 €/patient (savings 59.6%) and ACR-SCORE≥3-biopsy 339.75 €/patient (savings 18%). If the corticosteroid was removed and a biopsy was performed, 21.6 €/patient (94.7% savings), if the corticosteroid was removed and Doppler ultrasound was performed, 10.6 €/patient (97.4% savings).Conclusions: Headache, temporary pain and jaw claudication are predictors of TA. Elevated ESR and CRP are predictors of positive biopsy and presence of halo on ultrasound. The uses of ACR-SCORE≥3 with Doppler ultrasound or biopsy, and with corticosteroid suspension, are cost-effective.(AU)


Humans , Male , Female , Middle Aged , Aged , Giant Cell Arteritis/diagnosis , Comorbidity , Ultrasonography, Doppler , Biopsy/classification , Rheumatology , Rheumatic Diseases , Retrospective Studies
8.
Reumatol. clín. (Barc.) ; 20(4): 187-192, Abr. 2024. tab
Article En | IBECS | ID: ibc-232371

Introduction and objectives: Magnetic resonance imaging (MRI) sensitivity and specificity seem to be less studied in enthesitis-related arthritis (ERA). We aimed to determine the ability of sacroiliac MRI to diagnose ERA patients. Materials and methods: We conducted a retrospective study including 44 patients with juvenile idiopathic arthritis (JIA). Each patient had a sacroiliac joint MRI. We divided patients into two groups: G1 patients with ERA and G2 patients with non-ERA subtype. Results: ERA was noted in 61% of the cases. Sacroiliac joints were painful in 15 patients (34%). MRI was normal in 25 patients (57%) (G1:11 versus G2:14) and showed bone marrow edema in the sacroiliac joints in 19 patients (34%) (G1=16 versus G2=3, p=0.005). Sacroiliac joints MRI's sensitivity and specificity in the ERA diagnosis were 61.54% and 82.35%, respectively. Positive and negative predictive values were 84.21% and 58.33%, respectively. Furthermore, sacroiliac joint pain in the clinical examination was able to predict sacroiliac bone edema in MRI with an odds ratio of 6.8 (95% CI 1.68–28.09; p=0.006). Conclusion: Our study showed that sacroiliac joint MRI has good specificity and positive predictive value in the diagnosis of ERA patients among JIA patients. This underlines the usefulness of sacroiliac joint MRI in the early diagnosis of ERA patients.(AU)


Introducción y objetivos: La sensibilidad y especificidad de la resonancia magnética parecen estar menos estudiadas en la artritis relacionada con entesitis (ERA). Nuestro objetivo era determinar la capacidad de la resonancia magnética de la articulación sacroilíaca para diagnosticar pacientes con ERA. Materiales y métodos: Realizamos un estudio retrospectivo que incluyó a 44 pacientes con artritis idiopática juvenil (AIJ). A cada paciente se le realizó una resonancia magnética de la articulación sacroilíaca. Dividimos a los pacientes en dos grupos: G1: pacientes con ERA y G2: pacientes con subtipo no ERA. Resultados: Se observó ERA en 61% de los casos. Las articulaciones sacroilíacas resultaron dolorosas en 15 pacientes (34%). La resonancia magnética fue normal en 25 pacientes (57%) (G1:11 vs. G2:14) y mostró edema de médula ósea en las articulaciones sacroilíacas en 19 pacientes (34%) (G1=16 vs. G2=3, p=0,005). La sensibilidad y especificidad de la resonancia magnética de articulaciones sacroilíacas en el diagnóstico de ERA fueron de 61,54 y 82,35%, respectivamente. Los valores predictivos positivos y negativos fueron 84,21 y 58,33%, respectivamente. Además, el dolor en la articulación sacroilíaca en el examen clínico fue capaz de predecir el edema del hueso sacroilíaco en la resonancia magnética con un odds ratio de 6,8 (IC 95%: 1,68 a 28,09; p=0,006). Conclusión: Nuestro estudio demostró que la resonancia magnética de la articulación sacroilíaca tiene buena especificidad y valor predictivo positivo en el diagnóstico de pacientes con ERA entre pacientes con AIJ. Esto subraya la utilidad de la resonancia magnética de la articulación sacroilíaca en el diagnóstico temprano de pacientes con ERA.(AU)


Humans , Male , Female , Sacroiliitis/diagnosis , Arthritis , Magnetic Resonance Spectroscopy , Sacroiliac Joint/diagnostic imaging , Arthritis, Juvenile , Rheumatology , Rheumatic Diseases , Sensitivity and Specificity , Retrospective Studies
9.
Reumatol. clín. (Barc.) ; 20(4): 193-198, Abr. 2024. graf, tab
Article En | IBECS | ID: ibc-232372

Background: The characteristics of synovial fluid (SF) in geriatric patients differ from those in younger patients. In Mexico, epidemiologic data on the incidence of different rheumatic diseases in geriatric patients are scarce. Objective: To describe the physical characteristics of geriatric SF and the prevalence of crystals in knee and other joint aspirates from patients with previously diagnosed joint disease. Materials and methods: A retrospective study was performed with a baseline of 517 SF samples between 2011 and 2023. White blood cell count was performed by Neubauer chamber and crystals were identified by polarized light microscopy. Descriptive statistical analysis was performed and prevalence was reported as a percentage. Results: The mean age of the adults was 73.5±5.0 years, 54.4% were women and 45.6% were men. The mean SF volume was 6.3±9.5mL in older adults and 15.3±24.9mL in those younger than 65 years. The mean viscosity in older adults was 9.5±4.5mm and the mean leukocyte count was 7352±16,402leukocytes/mm3. Seventy percent of the older adults’ SFs were referred to the laboratory for osteoarthritis (OA), with lower proportions for rheumatoid arthritis (RA) (14.6%) and gout (5.1%). Of the crystals observed in the geriatric population, 14.6% corresponded to monosodium urate crystals (CUM) and 18.9% to calcium pyrophosphate crystals (CPP). Conclusions: The characteristics of LS in older adults were smaller volume, increased viscosity, and non-inflammatory. The main diagnoses were OA, RA, and gout. The crystal content of the SF of the geriatric population corresponded mainly to CPP.(AU)


Antecedentes: Las características del líquido sinovial (LS) en pacientes geriátricos varían en comparación con pacientes más jóvenes. En México, los datos epidemiológicos sobre la incidencia de diversas enfermedades reumáticas en el paciente geriátrico son escasos. Objetivo: Describir las características físicas del LS geriátrico y la prevalencia de cristales en aspirados de rodilla y otras articulaciones de pacientes con enfermedades articulares previamente diagnosticadas.Materiales y métodos: Se realizó un estudio retrospectivo con una base de 517 muestras de LS entre 2011 y 2023. El recuento de glóbulos blancos se realizó con cámara de Neubauer, y los cristales se identificaron por microscopia de luz polarizada. Se realizó un análisis estadístico descriptivo y la prevalencia se reportó como porcentaje. Resultados: La edad promedio en los adultos fue de 73,5±5,0 años; el 54,4% fueron mujeres y el 45,6%, hombres. El volumen promedio del LS en adultos mayores fue de 6,3±9,5ml, mientras que en menores de 65 años fue de 15,3±24,9ml. La viscosidad promedio fue de 9,5±4,5mm en los adultos mayores, y una cuenta de 7.352±16.402 leucocitos/mm3. El 70% de los LS de los adultos mayores fueron remitidos a laboratorio por osteoartritis (OA), u una proporción más baja, por artritis reumatoide (AR) (14,6%) y gota (5,1%). En cuanto a los cristales observados en los LS de la población geriátrica, el 14,6% correspondieron a cristales de urato monosódico (CUM) y el 18,9%, a cristales de pirofosfato de calcio (CPP). Conclusiones: Las características del LS en los adultos mayores fueron menor volumen, viscosidad incrementada y no inflamatorios. Los principales diagnósticos fueron OA, AR y gota. El contenido de los cristales en los LS de la población geriátrica correspondió principalmente a CPP.(AU)


Humans , Male , Female , Aged , Geriatrics , Synovial Fluid/microbiology , Osteoarthritis , Health of the Elderly , Rheumatology , Rheumatic Diseases , Retrospective Studies , Mexico
10.
Reumatol. clín. (Barc.) ; 20(4): 199-203, Abr. 2024. graf, tab
Article En | IBECS | ID: ibc-232373

Introduction and objectives: Henoch Schönlein purpura (HSP) and Kawasaki disease (KD) are two main inflammatory diseases among childhood vasculitis. Considering the anti-inflammatory effects of 25-hydroxyvitamin D3, we decided to investigate the association of serum 25-hydroxy vitamin D3 level with the type and severity of these conditions. Materials and methods: The present study was performed as a historical cohort of 254 affected children with KD and HSP vasculitis. The required data were extracted, using a researcher-made questionnaire from patients’ electronic file, and then they were analyzed after collecting information of the patients. Results: In HSP group, 54% of participants were boys. Similarly, in KD group, boys were more affected than girls. The comparative 25-hydroxyvitamin vitamin D3 level in HSP patients with and without renal involvement (P=0.02), hematuria (P=0.14), and in two groups with and without heart disease, and also with and without coronary artery dilatation in KD patients (P<0.001) were significant. Discussion and conclusions: The findings showed that insufficient level of vitamin D3 were significantly associated with the exacerbation of complications of both diseases, and therefore it seems that vitamin D deficiency can be an effective predictive factor of severity in HSP and KD patients.(AU)


Introducción y objetivos: La púrpura de Henoch-Schönlein (HSP) y la enfermedad de Kawasaki (EK) son dos patologías inflamatorias principales entre las vasculitis infantiles. Teniendo en cuenta los efectos antiinflamatorios de la 25-hidroxivitamina D3, decidimos investigar la asociación del nivel sérico de esta con el tipo y la gravedad de dichas afecciones. Materiales y métodos: El presente estudio se realizó como una cohorte histórica de 254 niños afectados con vasculitis por EK y HSP. Los datos requeridos se extrajeron mediante un cuestionario elaborado por un investigador del expediente electrónico de los pacientes y se analizaron después de recopilar la información de los usuarios. Resultados: En el grupo HSP, 54 y 46% de los participantes eran niños y niñas, respectivamente. De manera similar, en el grupo KD, los varones se vieron más afectados. El nivel comparativo de 25-hidroxivitamina D3 en pacientes con HSP con y sin afectación renal (p = 0,02), hematuria (p = 0,14), y en dos grupos con y sin enfermedad cardiaca, y en dos con y sin dilatación de la arteria coronaria en usuarios con EK (p < 0,001) fueron significativos. Discusión y conclusiones: Los hallazgos mostraron que los niveles insuficientes de vitamina D se asociaron significativamente con la exacerbación de las complicaciones de ambas enfermedades, por lo que parece que la deficiencia de vitamina D puede ser un factor predictivo eficaz de la gravedad en pacientes con HSP y EK.(AU


Humans , Male , Female , Child , Mucocutaneous Lymph Node Syndrome/diagnosis , Vitamin D , Calcifediol , Rheumatology , Rheumatic Diseases , Cohort Studies
12.
RMD Open ; 10(2)2024 Apr 19.
Article En | MEDLINE | ID: mdl-38642927

BACKGROUND: During the COVID-19 pandemic, we developed a digital research platform to longitudinally investigate COVID-19-related outcomes in patients with rheumatic diseases and healthy controls. We used home finger-prick testing in order to collect serum samples remotely and increase the overall efficiency of the platform. The aim of the present study was to evaluate the success rate of the finger prick and patients' perspective towards the finger prick. METHODS: Serum samples were collected up to five times during follow-up, either via a venepuncture at the research institute or a finger prick from participants' home. Participants were asked to complete a digital evaluation questionnaire of the finger prick after their attempts. RESULTS: A total of 2135 patients and 899 controls performed at least one finger prick and were included in this study. The first finger prick was successfully done by 92% (95% CI: 90% to 93%) of patients, 94% (95% CI: 92% to 95%) of controls, 93% (95% CI: 92% to 94%) of all participants aged ≤70 years and 89% (95% CI: 86% to 92%) of all participants aged >70 years. Sex did not impact these success rates. Repeated failure occurred in 11/439 (0.8%) patients and 4/712 (0.6%) controls. Both patients and controls were less willing to perform a finger prick for individual healthcare compared with scientific research. CONCLUSION: The vast majority of participants, among which elderly and patients with rheumatic diseases, were able to successfully draw the required amount of blood for serological analyses. This shows that finger-prick testing is suitable for a high-throughput implementation to monitor patients remotely.


COVID-19 , Rheumatic Diseases , Rheumatology , Aged , Humans , Pandemics , Feasibility Studies , Blood Specimen Collection , COVID-19/diagnosis , COVID-19/epidemiology , Rheumatic Diseases/diagnosis
13.
RMD Open ; 10(2)2024 Apr 04.
Article En | MEDLINE | ID: mdl-38580346

INTRODUCTION: Hypophosphatasia (HPP) is a rare genetic disease caused by loss-of-function mutations in the ALPL gene encoding the tissue non-specific alkaline phosphatase (ALP). Mild HPP is usually misdiagnosed in adult age. While an elevated serum ALP value draws more attention than a low value, low serum ALP should be better recognised and may lead to HPP detection. METHODS: Patients were selected from the records of the biochemistry department of six University Hospitals in France. Patients were hospitalised in the departments of rheumatology and internal medicine between 2007 and 2017. RESULTS: 56 321 hospitalised patients had at least 2 serum ALP dosages and 664 of these patients had at least 2 low serum ALP≤35 UI/L. Among these 664 patients, 482 (72.6%) had fluctuating low values (mean age 62.9 years; 60% of women) and 182 patients (27.4%) had persistent low values below 35 IU/L (mean age 53.4 years; 67% of women). Among patients with persistent hypophosphatasaemia treated with bisphosphonates, 70.8% never had ALP measurement before treatment and 20.8% were treated despite an abnormal decrease of ALP. Genetic testing was performed in 18 patients and was positive in 11. Genetic diagnosis of HPP was at least 6.0% in persistent hypophosphatasaemia and at least 15.9% in patients with at least three symptoms suggestive of HPP. CONCLUSION: In this 10-year retrospective study, 0.32% of adult patients hospitalised in the rheumatology and internal medicine departments had persistently low serum ALP, and among them, 6% had genetically proven HPP. Reported hypophosphatasaemia represented only 3.6% of hospitalised patients.


Hypophosphatasia , Rheumatology , Adult , Humans , Female , Middle Aged , Hypophosphatasia/diagnosis , Hypophosphatasia/epidemiology , Hypophosphatasia/genetics , Alkaline Phosphatase/genetics , Retrospective Studies , Mutation
14.
Health Expect ; 27(2): e14049, 2024 Apr.
Article En | MEDLINE | ID: mdl-38623822

OBJECTIVE: First Nations Australians experience a higher burden and severity of Rheumatic Disease with poorer outcomes than the general population. Despite a widely acknowledged need to improve health outcomes, there has been minimal research assessing existing models of care from a First Nations perspective in Australia. The objective of this study was to describe First Nations experiences and barriers and enablers to accessing a hospital-based adult Rheumatology service in Sydney. METHODS: A qualitative study using semi-structured interviews was undertaken. Patients who self-identified as First Nations attending the Prince of Wales Hospital Rheumatology Clinic in 2021 were invited to participate. Interviews were conducted face-to-face or by telephone using culturally-appropriate Yarning methods with an Aboriginal Health Worker (AHW) at the request of participants. Thematic analysis was done in consultation with an Aboriginal Reference Group (ARG). RESULTS: Four categories, which encapsulated 11 themes were identified. Participants reported barriers to care such as logistics of the referral process, not feeling culturally safe because of uncomfortable clinic environments and health worker behaviours, inadequate cultural support and community perceptions of the specialty. Enabling factors included family member involvement, AHW support and telehealth consultation. CONCLUSION: The current model of care perpetuates access challenges for First Nations Australians within rheumatology. Barriers to care include the delayed referral process, limited cultural responsivity in the clinic environment and poor cross-cultural communication. There is a need for models of care that are co-designed with First Nations Peoples to address these barriers. PATIENT AND PUBLIC CONTRIBUTION: Participants were First Nations Australians with lived experience attending the rheumatology clinic. All interviewees were offered the opportunity to review their transcripts to ensure trustworthiness of the data. Preliminary thematic analysis was conducted in partnership with the AHW who has over 20 years experience. Following preliminary coding, a list of themes were presented to the ARG for iterative discussion and refinement. The ARG provided community representation and ensured that First Nations voices were privileged in the analysis. It's intended that the findings of this study will support the upcoming co-design of a First Nations health service for Rheumatology patients.


Health Services, Indigenous , Rheumatology , Humans , Australia , Australian Aboriginal and Torres Strait Islander Peoples , Hospitals, Urban
16.
Front Immunol ; 15: 1384229, 2024.
Article En | MEDLINE | ID: mdl-38571954

Objective: Positive antinuclear antibodies (ANAs) cause diagnostic dilemmas for clinicians. Currently, no tools exist to help clinicians interpret the significance of a positive ANA in individuals without diagnosed autoimmune diseases. We developed and validated a risk model to predict risk of developing autoimmune disease in positive ANA individuals. Methods: Using a de-identified electronic health record (EHR), we randomly chart reviewed 2,000 positive ANA individuals to determine if a systemic autoimmune disease was diagnosed by a rheumatologist. A priori, we considered demographics, billing codes for autoimmune disease-related symptoms, and laboratory values as variables for the risk model. We performed logistic regression and machine learning models using training and validation samples. Results: We assembled training (n = 1030) and validation (n = 449) sets. Positive ANA individuals who were younger, female, had a higher titer ANA, higher platelet count, disease-specific autoantibodies, and more billing codes related to symptoms of autoimmune diseases were all more likely to develop autoimmune diseases. The most important variables included having a disease-specific autoantibody, number of billing codes for autoimmune disease-related symptoms, and platelet count. In the logistic regression model, AUC was 0.83 (95% CI 0.79-0.86) in the training set and 0.75 (95% CI 0.68-0.81) in the validation set. Conclusion: We developed and validated a risk model that predicts risk for developing systemic autoimmune diseases and can be deployed easily within the EHR. The model can risk stratify positive ANA individuals to ensure high-risk individuals receive urgent rheumatology referrals while reassuring low-risk individuals and reducing unnecessary referrals.


Autoimmune Diseases , Rheumatology , Female , Humans , Antibodies, Antinuclear , Autoantibodies , Autoimmune Diseases/diagnosis , Electronic Health Records , Male
18.
Z Rheumatol ; 83(4): 334-336, 2024 May.
Article De | MEDLINE | ID: mdl-38683346
20.
Z Rheumatol ; 83(4): 338, 2024 May.
Article De | MEDLINE | ID: mdl-38683348
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