Adult People with Hemophilia A Have Low Annualized Bleeding Rate, However the Arthropathy Remains a Burden: A Retrospective Cohort Study.

Congenital Hemophilia A is a complex disease to treat, especially in places without access to hemophilia treatment centers (HTCs). The primary aim of this study was to analyze the outcomes of a cohort of adult people with congenital hemophilia A in an HTC localized in the Bajio region of Mexico. Observational retrospective study of a cohort of 82 adult people with congenital hemophilia A treated in a tertiary-level hospital in the Bajio region of Mexico, between June 2022 and June 2023. The median age of the patients was 29.5 years, 60.9% with severe hemophilia A, 53.6% were under some factor VIII prophylaxis regimen, and 52.4% had home therapy. The median annualized bleeding rate (ABR) was one bleed/year (IQR 0-3 bleeds/year) including a median of zero joint bleeds/year (IQR 0-3 bleeds/year). The presence of high-response inhibitors was detected in 8.5%, with an overall incidence of inhibitors of 14.6% of the cohort. Univariate analysis showed that inhibitors (OR 21.10; CI 95% 1.20-370.3; P = 0.03) and clinical arthropathy (OR 6.14; CI 95% 2.13-17.68; P = 0.001) were significantly higher in severe hemophilia. Clinically significant arthropathy was found in 71.9% of patients. Ultrasonography of the target joints showed that mainly cartilage degeneration was affected. Blood transfusion-associated viral infections were detected in 10.9% of patients. In our HTC, current treatment with hemostatic agents allows adequate control of ABR with acceptable inhibitor rates. However, we still have joint damage in most patients, which is partly explained by the fact that prophylaxis was introduced only in recent years.

Effects of resistance training on muscle strength in adults with haemophilia: A systematic review and meta-analysis.

INTRODUCTION: Although resistance training is frequently prescribed for people with haemophilia (PWH), no previous meta-analyses have quantified the effect of this intervention on muscle strength, nor the implications of the intervention's modality and duration. AIM: (1) To determine the effects of resistance training on muscle strength in adults with haemophilia; (2) To determine the most effective duration and modality among the exercise protocols. METHODS: A systematic search from inception until 28 November 2023 was conducted in PubMed, Embase, Web of Science, CENTRAL and CINAHL databases. We included randomised controlled trials or before-after studies that involved resistance training without other physiotherapy co-interventions. Study selection, data extraction and risk of bias assessment were independently performed by two reviewers. Disagreements were resolved in consultation with a third author. The level of evidence was determined according to the GRADE methodology. RESULTS: Seven studies were included. Measurements of knee extensor strength and elbow extensor strength were included in the meta-analysis. Subgroup analysis showed significant effects for both elastic resistance protocols (SMD: 0.54; 95% CI: 0.02-1.07) and conventional training (isometric and weight-based equipment) (SMD: 0.88; 95% CI: 0.50-1.25), demonstrating small and moderate effect sizes respectively. Additionally, both protocols of duration 5-7 weeks (SMD: 1.16, 95% CI: 0.63-1.69) as well as those of duration ≥8 weeks (SMD: 0.57, 95% CI: 0.20-0.94) showed a significant difference. CONCLUSION: Resistance training is effective in improving muscle strength of the knee and elbow extensors in PWH. Both elastic resistance and conventional training show benefits.

Intra-articular stabilization of a dog stifle with polyester thread: an ex vivo evaluation / Estabilização intra-articular de joelho de cães com fio de poliéster: avaliação ex vivo

The incidence of cranial cruciate ligament rupture (CCLR) in dogs is high, which is considered the main arthropathy in the species. Once diagnosed, surgical stabilization is recommended and different treatments are categorized as intracapsular, extracapsular, and osteotomies. There is still no consensus regarding the most optimal method of stabilization, and some studies have attempted to create or improve existing techniques, making them more effective. This study presented an intra-articular stifle stabilization technique using a synthetic polyester implant using 32 anatomical specimens from canine cadavers, which were separated by weight into two groups. The drawer movement was analyzed at three timepoints: intact cranial cruciate ligament (CCL), dissected ligament, and after surgical stabilization using the proposed technique. Results showed a mean cranial displacement of the tibia relative to the femur of 0.61 ± 0.08 millimeters before dissection (mm), 2.61 ± 0.08 mm after dissection, and 0.68 ± 0.08 mm after surgical stabilization (P < 0.01). In conclusion, the intra-articular stabilization technique with polyester thread was effective in stabilizing ex vivo dog stifles after CCL dissection at the immediate postoperative period.

A incidência de ruptura do ligamento cruzado cranial (RLCCr) em cães é alta, sendo considerada a principal artropatia na espécie. Uma vez diagnosticada, a estabilização cirúrgica é recomendada e diversos autores indicam diferentes tratamentos, sendo divididos em intracapsulares, extracapsulares e osteotomias. Ainda não há consenso sobre a melhor forma de estabilização e estudos tem sido desenvolvidos buscando criar ou aprimorar técnicas existentes, tornando-as mais eficazes. O objetivo deste trabalho é apresentar técnica de estabilização intra-articular de joelho, utilizando implante sintético de poliéster. Para isso, 32 peças anatômicas oriundas de cadáveres caninos foram separadas em dois grupos, conforme o peso do animal. Analisamos o movimento de gaveta, em três momentos: ligamento cruzado cranial (LCCr) íntegro, ligamento desmotomizado e pós estabilização cirúrgica pela técnica proposta. Os resultados demonstram deslocamento cranial médio da tíbia em relação ao fêmur antes da desmotomia de 0,61 ± 0,08 milímetros (mm), 2,61 ± 0,08 mm após a desmotomia e 0,68 ± 0,08 mm após estabilização cirúrgica (P < 0.01). Concluímos que, no momento pós-cirúrgico imediato, a técnica de estabilização intra-articular com fio de poliéster é eficaz em estabilizar a articulação de modelo ex vivo de cães após desmotomia do LCCr.

Charcot Arthropathy of the Shoulder Associated with Syringomyelia: A Report of 2 Cases / Artropatia do ombro de Charcot associada à Siringomielia: Relato de 2 casos

Charcot arthropathy of the shoulder caused by syringomyelia is a unusual degenerative disorder, frequently misdiagnosed and with few cases described in the literature. The diagnosis is made by clinical evaluation and radiological examinations with radiography and magnetic resonance imaging. However, the correct diagnosis and treatment is possible by carefully medical evaluation and can improve patient symptoms. Therefore, this study aimed to report two cases of Charcot arthropathy caused by syringomyelia. After achieving correct neurosurgical evaluation and magnetic resonance imaging, the diagnosis was made. The first case is a 53-year-old man with a click on his right shoulder for at least 12 months, associated with local edema, pain and limitation of joint range of motion. The second is a 45-year-old man with pain in the right upper limb and difficulty moving the joint for at least 24 months, associated with progressive worsening of the collection and edema in the ipsilateral upper limb. Posterior fossa decompression was performed, with symptoms relief after surgery. Posterior fossa decompression is a treatment that seems to be effective in reducing symptoms, especially when the diagnosis is early. However, this type of treatment still remains controversial, requiring further studies.

A artopatia de Charcot do ombro causada por siringomielia é uma doença degenerativa incomum, frequentemente subdiagnosticada e com poucos casos descritos na literatura. O diagnóstico é feito pela avaliação clínica e exames radiológicos com radiografia e ressonância magnética. No entanto, o diagnóstico e tratamento corretos são possíveis mediante avaliação médica criteriosa e podem melhorar os sintomas do paciente. Portanto, este trabalho objetiva relatar dois casos de artropatia de Charcot causada por siringomielia. Após obter correta avaliação neurocirúrgica e ressonância magnética, o diagnóstico foi feito. O primeiro caso é um homem de 53 anos com clique no ombro direito por pelo menos 12 meses, associado a edema local, dor e limitação da amplitude do movimento articular. O segundo é um homem de 45 anos com dor em membro superior direito e dificuldade de movimentação articular há pelo menos 24 meses, associada a piora progressiva da coleção e edema em membro superior ipsilateral. A descompressão da fossa posterior foi realizada, com alívio dos sintomas após a cirurgia. A descompressão da fossa posterior é um tratamento que parece eficaz na redução dos sintomas, principalmente quando o diagnóstico é precoce. Porém, esse tipo de tratamento ainda permanece controverso, necessitando de mais estudos.

EFFECTIVENESS OF VISCOSUPPLEMENTATION IN THE TREATMENT OF HEMOPHILIC ARTHROPATHY: A SYSTEMATIC REVIEW.

Objective: To describe the efficacy of using viscosupplementation in patients with hemophilic arthropathy (HA), on pain, limb functionality, and quality of life. Methods: A systematic review of the literature was performed following the PRISMA guidelines without limitations of language or year of publication. The search was performed on the following medical databases: PubMed, Cochrane Library, EMBASE, BVS/BIREME, Scopus, Web of Science, EBSCOhost, and PROQUEST in April 2020. The search used the following word: (hemophilia AND joint diseases) OR (haemophilic arthropathy OR hemophilic arthropathy) AND viscosupplementation. Results: The systematic review identified 127 articles, 10 of which were selected for data extraction and qualitative analysis. The 10 selected articles included 297 joints with HA in 177 hemophilic subjects. Our review showed positive results in alleviating pain and improving functional capacity, and quality of life. No major adverse effects were observed. Conclusion: There is a lack of scientific evidence regarding viscosupplementation with hyaluronic acid, but the results presented in this research suggest that it is an effective and safe therapeutic option to alleviate pain and improve functional capacity in patients with HA. Level of Evidence II, Systematic Review.

Objetivo: Descrever o uso da viscossuplementação com ácido hialurônico em pacientes com artropatia hemofílica (HA), sua eficácia na dor, a funcionalidade do membro e a qualidade de vida após sua aplicação. Métodos: Revisão sistemática da literatura (RSL) que seguiu as diretrizes PRISMA, sem limitação de idioma ou ano de publicação. A pesquisa foi realizada em abril de 2020 nas seguintes bases de dados médicas: PubMed, Cochrane Library, EMBASE, BVS/BIREME, Scopus, Web of Science, EBSCOhost e ProQuest. A estratégia de pesquisa foi: (hemofilia AND joint disease) OR (artropatia hemofílica OU artropatia hemofílica) E viscossuplementação. Resultados: A RSL identificou 127 artigos, dos quais 10 foram selecionados para extração de dados e análise qualitativa. Os 10 artigos selecionados incluíram 297 articulações com AH em 177 indivíduos hemofílicos. Nossa revisão mostrou resultados positivos na melhora da dor, na capacidade funcional e na qualidade de vida. Não foram observados efeitos adversos importantes. Conclusão: A evidência científica atual a respeito da viscossuplementação com ácido hialurônico é escassa, mas os resultados apresentados nesta pesquisa sugerem que é uma opção terapêutica eficaz e segura para diminuir a dor e melhorar a capacidade funcional em pacientes com AH. Nível de Evidência II, Revisão Sistemática.

Clinical disease activity index applicability in lupus arthropathy: Unraveling underdiagnosed joint activity.

INTRODUCTION: Lupus arthropathy (LA) ranges from arthralgia and non-deforming arthritis to severe forms such as Jaccoud-type deformities and mutilating arthritis. Considering the evolving concept of LA, measuring arthritis activity in lupus patients may require a more practical and sensitive tool other than the classical composite scores. METHODS: In this cross-sectional study, we evaluated the articular pattern of a sample of SLE patients which were divided into those that scored in articular domain on Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) and those with activity arthritis using the Clinical Disease Activity Index (CDAI). After all, we analyzed the association between CDAI and arthritis by SLEDAI-2K as well as its association with the presence or not of Jaccoud-type arthropathy (JA). RESULTS: A total of 127 patients with SLE were evaluated. According to SLEDAI-2K, 17 (13.4%) patients have scored in its joint criteria and 32 patients (25.19%) were considered to have some articular activity by CDAI. A total of 16 patients (50%) who scored some activity on CDAI did not score in articular domain of SLEDAI-2K. Also, the presence of Jaccoud-type arthropathy was significantly associated with arthritis activity according to the CDAI score (p = .014) but not with SLEDAI-2K joint criteria (p = .524). CONCLUSION: The CDAI was not directly associated with the presence of arthritis by the joint criteria of SLEDAI-2K and the presence of JA was significantly associated with the CDAI but not with arthritis at SLEDAI-2K.

How does joint impairment affect the functional capacity of the lower limb in early haemophilia-related arthropathy?

INTRODUCTION: The impact of joint damage on functional capacity in patients with mild haemophilia (PwMH) has yet to be well studied. The primary aim of this study was to investigate the effect of joint impairment on the functional capacity of the lower limb in PwMH. The secondary aim was to identify physical predictors of lower limb functional capacity. METHOD: Forty-nine PwMH were evaluated. Dynamic balance was assessed using Time Up and Go (TUG). Thirty-second sit-to-stand (30-STS) and 60-second-STS (60-STS) were used to assess muscle power and endurance, respectively. Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) was used to assess joint damage. PwMH were divided based on HEAD-US: with joint damage (≥3 points) and without or with very low joint damage (0-2 points). Univariate ANOVA and multiple regression analyses were performed to identify differences in functional capacity and potential physical predictors. RESULTS: Only 30-STS showed significant differences between groups (p = .002). TUG and 60-STS were primarily explained by age (r2  = .21 and r2  = .44, respectively), while for 30-STS, age combined with joint damage and pain level explains 54% of the variance. CONCLUSION: Our findings indicate that the 30-STS is useful for assessing functional deterioration in people with early-stage haemophilia-related arthropathy. Our results also indicate that joint damage, combined with ageing and pain, may impact 30-STS outcomes in PwMH. Furthermore, our findings show that the loss in TUG and 60-STS performance in PwMH is related to ageing.

Lipoma of the Teres Minor in Rotator Cuff Arthropathy-A Case Report.

Although lipomas are the most common mesenchymal tumors, the intramuscular type is rare. We report the case of a patient with rotator cuff arthropathy with a lipoma in the teres minor. Wide surgical excision and total shoulder arthroplasty with reverse prosthesis was performed and 18 months of follow up showed excellent results with any recurrence. The teres minor is extremely important for the proper function of a reverse prosthesis, and lipoma growth in the muscular belly can compromise the functionality of the prosthesis. To the best of our knowledge, this is the first case report of a rotator cuff arthropathy with a lipoma in the teres minor.

Frequency of use and cost of biologic treatment for inflammatory bowel disease and inflammatory bowel disease-associated arthropathy in Colombia in 2019.

INTRODUCTION AND AIMS: Inflammatory bowel disease (IBD) has a high economic burden due to its chronicity. Treatment has evolved, thanks to the understanding of IBD pathogenesis and the advent of biologic therapy, albeit the latter increases direct costs. The aim of the present study was to calculate the total cost and cost per patient/year of biologic therapy for IBD and IBD-associated arthropathy in Colombia. METHODS: A descriptive study was conducted. The data were obtained from the Comprehensive Social Protection Information System of the Department of Health for the year 2019, utilizing the medical diagnosis codes of the International Classification of Diseases related to IBD and IBD-associated arthropathy as keywords. RESULTS: The prevalence of IBD and IBD-associated arthropathy was 61 cases per 100,000 inhabitants, with a female-to-male ratio of 1.5:1. Joint involvement was 3%, and 6.3% of the persons with IBD and IBD-associated arthropathy received biologic therapy. Adalimumab was the most widely prescribed biologic drug (49.2%). Biologic therapy had a cost of $15,926,302 USD and the mean cost per patient/year was $18,428 USD. Adalimumab had the highest impact on healthcare resource utilization, with a total cost of $7,672,320 USD. According to subtype, ulcerative colitis had the highest cost ($10,932,489 USD). CONCLUSION: Biologic therapy is expensive, but its annual cost in Colombia is lower than that of other countries due to the government's regulation of high-cost medications.

Inflammatory Biomarkers Can Differentiate Acute Lymphoblastic Leukemia with Arthropathy from Juvenile Idiopathic Arthritis Better Than Standard Blood Tests.

OBJECTIVE: To evaluate the predictive value of biomarkers of inflammation like phagocyte-related S100 proteins and a panel of inflammatory cytokines in order to differentiate the child with acute lymphoblastic leukemia (ALL) from juvenile idiopathic arthritis (JIA). STUDY DESIGN: In this cross-sectional study, we measured S100A9, S100A12, and 14 cytokines in serum from children with ALL (n = 150, including 27 with arthropathy) and JIA (n = 236). We constructed predictive models computing areas under the curve (AUC) as well as predicted probabilities in order to differentiate ALL from JIA. Logistic regression was used for predictions of ALL risk, considering the markers as the respective exposures. We performed internal validation using repeated 10-fold cross-validation and recalibration, adjusted for age. RESULTS: In ALL, the levels of S100A9, S100A12, interleukin (IL)-1 beta, IL-4, IL-13, IL-17, matrix metalloproteinase-3, and myeloperoxidase were low compared with JIA (P < .001). IL-13 had an AUC of 100% (95% CI 100%-100%) due to no overlap between the serum levels in the 2 groups. Further, IL-4 and S100A9 had high predictive performance with AUCs of 99% (95% CI 97%-100%) and 98% (95% CI 94%-99%), respectively, exceeding both hemoglobin, platelets, C-reactive protein, and erythrocyte sedimentation rate. CONCLUSIONS: The biomarkers S100A9, IL-4, and IL-13 might be valuable markers to differentiate ALL from JIA.

A look into the wild. Pathological analysis of a modern collection of guanacos from the Dry Chaco and its implications for South American camelid paleopathological studies.

OBJECTIVE: This article evaluates the prevalence of lesions in a modern osteological collection of guanacos (Lama guanicoe) and discusses the potential of paleopathological data to assess human intervention and environmental stress. MATERIALS: A modern osteological collection of guanacos (NISP = 862) from north-western Córdoba, Central Argentina. METHODS: The prevalence of pathological specimens per skeletal element and the pathological index (Bartosiewicz et al., 1997) was used. The prevalence of arthropathies, trauma and infections was quantified. Additionally, thorn lesions in the autopodium were recorded. RESULTS: 11.03 % of the specimens presented pathological changes and the mean pathological index was 0.01. Degenerative lesions were the most prevalent type (10.34 %), followed by traumatic (0.81 %) and infectious pathologies (0.12 %). Thorn lesions (2.55 %) were recorded especially in metapodials. CONCLUSIONS: Guanacos are exposed to the development of degenerative lesions, mainly in the autopodium and vertebrae. These lesions are probably common in camelids and should not be used to argue human management. Traumatic and infectious lesions are less frequent. SIGNIFICANCE: This work provides baseline information for the paleopathological study of South American camelids and contributes to the characterization of a regionally endangered species. LIMITATIONS: The nature of the faunal assemblage did not allow for direct correlations between pathologies and individual variables such as sex or age. SUGGESTIONS FOR FURTHER RESEARCH: The comparison of our results with other wild and domesticated modern populations would be valuable to expand the baseline information for paleopathological studies. The use of quantitative methods is encouraged for future comparative and diachronic studies.

How mild is mild haemophilia?

INTRODUCTION: People with mild haemophilia (PWMH) experience sporadic bleeds and are less likely to receive an early diagnosis, appropriate treatment and medical care. Arthropathy is a key determinant of health-related quality of life (QoL), producing pain, limitations in mobility and daily activities. The aim of this study is to evaluate the incidence, risk factors and QoL associated with arthropathy in PWMH. MATERIALS AND METHODS: Observational, cross-sectional cohort study. Data were collected in a single interview and evaluated by a physiotherapist and an orthopaedist and analysed on demographics; baseline factor levels; as well as clinical (Haemophilia Joint Health Score [HJHS]), ultrasound (Haemophilia Early Arthropathy Detection with Ultrasound [HEAD-US]), radiological (Pettersson score [PS]), pain (visual analogue scale [VAS]) and QoL evaluations. We defined arthropathy when at least one of the joints shown with a HEAD-US score ≥ 1. RESULTS: Eighty-five patients and 510 joints were included. Patients' mean age was 35.9 years-old. Median age was 44.2 in patients with arthropathy versus 14.9 in patients without; the difference was statistically significant (p < .001). In patients over 20 years old, 90.5% shown arthropathy. Only 24 (28%) patients had no joint damage (HEAD-US = 0), and 61 (72%) had at least one joint with a HEAD-US ≥ 1. The ankle was the most affected joint. Patient age was found to be the most important risk factor associated with the development of arthropathy. CONCLUSIONS: Joint damage as a result of prior hemarthrosis was the most relevant factor associated with lower QoL, and emphasised the importance of early diagnosis and appropriate management in this particular population.

Toll-like receptor 9 polymorphisms in brazilian patients with systemic lupus erythematosus: a pilot study / Polimorfismos do receptor toll-like 9 em pacientes brasileiros com lúpus eritematoso sistêmico: um estudo piloto

Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their association with clinical manifestation, particularly Jaccoud’s arthropathy (JA). We analyzed DNA samples from 204 SLE patients, having a subgroup of them presenting JA (n=24). A control group (n=133) from the same city was also included. TLR9 single nucleotide polymorphisms (SNPs) (−1237 C>T and +2848 G>A) were identified by sequencing analysis. The TLR9 gene genotype frequency was similar both in SLE patients and the control group. In the whole SLE population, an association between the homozygosis of allele C at position −1237 with psychosis and anemia (p < 0.01) was found. Likewise, the homozygosis of allele G at position +2848 was associated with a discoid rash (p < 0.05). There was no association between JA and TLR9 polymorphisms. These data show that TLR9 polymorphisms do not seem to be a predisposing factor for SLE in the Brazilian population, and that SNPs are not associated with JA.

O receptor Toll-like 9 (TLR9) é um componente importante do sistema imunológico inato e tem sido associado a várias doenças autoimunes, como o Lúpus Eritematoso Sistêmico (LES). O objetivo deste estudo foi investigar polimorfismos no gene TLR9 em um grupo de pacientes brasileiros com LES e sua associação com a manifestação clínica, particularmente a artropatia de Jaccoud (JA). Foram analisadas amostras de DNA de 204 pacientes com LES, e um subgrupo com JA (n=24). Um grupo de controle (n=133) da mesma cidade também foi incluído. Os polimorfismos de nucleotídeos únicos TLR9 (SNPs) (−1237 C>T e +2848 G>A) foram identificados pela análise de sequenciamento. A frequência do genótipo genético TLR9 foi semelhante tanto em pacientes com LES quanto no grupo controle. Em toda a população de LES, foi encontrada associação entre a homozigose do alelo C na posição −1237 com psicose e anemia (p < 0,01). Da mesma forma, a homozigose do alelo G na posição +2848 foi associada a uma erupção cutânea discoide (p < 0,05). Não houve associação entre polimorfismos JA e TLR9. Esses dados mostram que os polimorfismos TLR9 não parecem ser um fator predisponível para o LES na população brasileira, e que os SNPs não estão associados ao JA.

Toll-like receptor 9 polymorphisms in brazilian patients with systemic lupus erythematosus: a pilot study

Abstract Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their association with clinical manifestation, particularly Jaccouds arthropathy (JA). We analyzed DNA samples from 204 SLE patients, having a subgroup of them presenting JA (n=24). A control group (n=133) from the same city was also included. TLR9 single nucleotide polymorphisms (SNPs) (1237 C>T and +2848 G>A) were identified by sequencing analysis. The TLR9 gene genotype frequency was similar both in SLE patients and the control group. In the whole SLE population, an association between the homozygosis of allele C at position 1237 with psychosis and anemia (p 0.01) was found. Likewise, the homozygosis of allele G at position +2848 was associated with a discoid rash (p 0.05). There was no association between JA and TLR9 polymorphisms. These data show that TLR9 polymorphisms do not seem to be a predisposing factor for SLE in the Brazilian population, and that SNPs are not associated with JA.

Resumo O receptor Toll-like 9 (TLR9) é um componente importante do sistema imunológico inato e tem sido associado a várias doenças autoimunes, como o Lúpus Eritematoso Sistêmico (LES). O objetivo deste estudo foi investigar polimorfismos no gene TLR9 em um grupo de pacientes brasileiros com LES e sua associação com a manifestação clínica, particularmente a artropatia de Jaccoud (JA). Foram analisadas amostras de DNA de 204 pacientes com LES, e um subgrupo com JA (n=24). Um grupo de controle (n=133) da mesma cidade também foi incluído. Os polimorfismos de nucleotídeos únicos TLR9 (SNPs) (1237 C>T e +2848 G>A) foram identificados pela análise de sequenciamento. A frequência do genótipo genético TLR9 foi semelhante tanto em pacientes com LES quanto no grupo controle. Em toda a população de LES, foi encontrada associação entre a homozigose do alelo C na posição 1237 com psicose e anemia (p 0,01). Da mesma forma, a homozigose do alelo G na posição +2848 foi associada a uma erupção cutânea discoide (p 0,05). Não houve associação entre polimorfismos JA e TLR9. Esses dados mostram que os polimorfismos TLR9 não parecem ser um fator predisponível para o LES na população brasileira, e que os SNPs não estão associados ao JA.

Effectiveness of viscosupplementation in the treatment of hemophilic arthropathy: a systematic review / Efetividade da viscossuplementação no tratamento da artropatia hemofílica: uma revisão sistemática

ABSTRACT Objective: To describe the efficacy of using viscosupplementation in patients with hemophilic arthropathy (HA), on pain, limb functionality, and quality of life. Methods: A systematic review of the literature was performed following the PRISMA guidelines without limitations of language or year of publication. The search was performed on the following medical databases: PubMed, Cochrane Library, EMBASE, BVS/BIREME, Scopus, Web of Science, EBSCOhost, and PROQUEST in April 2020. The search used the following word: (hemophilia AND joint diseases) OR (haemophilic arthropathy OR hemophilic arthropathy) AND viscosupplementation. Results: The systematic review identified 127 articles, 10 of which were selected for data extraction and qualitative analysis. The 10 selected articles included 297 joints with HA in 177 hemophilic subjects. Our review showed positive results in alleviating pain and improving functional capacity, and quality of life. No major adverse effects were observed. Conclusion: There is a lack of scientific evidence regarding viscosupplementation with hyaluronic acid, but the results presented in this research suggest that it is an effective and safe therapeutic option to alleviate pain and improve functional capacity in patients with HA. Level of Evidence II, Systematic Review.

RESUMO Objetivo: Descrever o uso da viscossuplementação com ácido hialurônico em pacientes com artropatia hemofílica (HA), sua eficácia na dor, a funcionalidade do membro e a qualidade de vida após sua aplicação. Métodos: Revisão sistemática da literatura (RSL) que seguiu as diretrizes PRISMA, sem limitação de idioma ou ano de publicação. A pesquisa foi realizada em abril de 2020 nas seguintes bases de dados médicas: PubMed, Cochrane Library, EMBASE, BVS/BIREME, Scopus, Web of Science, EBSCOhost e ProQuest. A estratégia de pesquisa foi: (hemofilia AND joint disease) OR (artropatia hemofílica OU artropatia hemofílica) E viscossuplementação. Resultados: A RSL identificou 127 artigos, dos quais 10 foram selecionados para extração de dados e análise qualitativa. Os 10 artigos selecionados incluíram 297 articulações com AH em 177 indivíduos hemofílicos. Nossa revisão mostrou resultados positivos na melhora da dor, na capacidade funcional e na qualidade de vida. Não foram observados efeitos adversos importantes. Conclusão: A evidência científica atual a respeito da viscossuplementação com ácido hialurônico é escassa, mas os resultados apresentados nesta pesquisa sugerem que é uma opção terapêutica eficaz e segura para diminuir a dor e melhorar a capacidade funcional em pacientes com AH. Nível de Evidência II, Revisão Sistemática.

Toll-like receptor 9 polymorphisms in brazilian patients with systemic lupus erythematosus: a pilot study / Polimorfismos do receptor toll-like 9 em pacientes brasileiros com lúpus eritematoso sistêmico: um estudo piloto

Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their association with clinical manifestation, particularly Jaccouds arthropathy (JA). We analyzed DNA samples from 204 SLE patients, having a subgroup of them presenting JA (n=24). A control group (n=133) from the same city was also included. TLR9 single nucleotide polymorphisms (SNPs) (−1237 C>T and +2848 G>A) were identified by sequencing analysis. The TLR9 gene genotype frequency was similar both in SLE patients and the control group. In the whole SLE population, an association between the homozygosis of allele C at position −1237 with psychosis and anemia (p < 0.01) was found. Likewise, the homozygosis of allele G at position +2848 was associated with a discoid rash (p < 0.05). There was no association between JA and TLR9 polymorphisms. These data show that TLR9 polymorphisms do not seem to be a predisposing factor for SLE in the Brazilian population, and that SNPs are not associated with JA.(AU)

O receptor Toll-like 9 (TLR9) é um componente importante do sistema imunológico inato e tem sido associado a várias doenças autoimunes, como o Lúpus Eritematoso Sistêmico (LES). O objetivo deste estudo foi investigar polimorfismos no gene TLR9 em um grupo de pacientes brasileiros com LES e sua associação com a manifestação clínica, particularmente a artropatia de Jaccoud (JA). Foram analisadas amostras de DNA de 204 pacientes com LES, e um subgrupo com JA (n=24). Um grupo de controle (n=133) da mesma cidade também foi incluído. Os polimorfismos de nucleotídeos únicos TLR9 (SNPs) (−1237 C>T e +2848 G>A) foram identificados pela análise de sequenciamento. A frequência do genótipo genético TLR9 foi semelhante tanto em pacientes com LES quanto no grupo controle. Em toda a população de LES, foi encontrada associação entre a homozigose do alelo C na posição −1237 com psicose e anemia (p < 0,01). Da mesma forma, a homozigose do alelo G na posição +2848 foi associada a uma erupção cutânea discoide (p < 0,05). Não houve associação entre polimorfismos JA e TLR9. Esses dados mostram que os polimorfismos TLR9 não parecem ser um fator predisponível para o LES na população brasileira, e que os SNPs não estão associados ao JA.(AU)

Toll-like receptor 9 polymorphisms in brazilian patients with systemic lupus erythematosus: a pilot study / Polimorfismos do receptor toll-like 9 em pacientes brasileiros com lúpus eritematoso sistêmico: um estudo piloto

Abstract Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their association with clinical manifestation, particularly Jaccoud's arthropathy (JA). We analyzed DNA samples from 204 SLE patients, having a subgroup of them presenting JA (n=24). A control group (n=133) from the same city was also included. TLR9 single nucleotide polymorphisms (SNPs) (−1237 C>T and +2848 G>A) were identified by sequencing analysis. The TLR9 gene genotype frequency was similar both in SLE patients and the control group. In the whole SLE population, an association between the homozygosis of allele C at position −1237 with psychosis and anemia (p < 0.01) was found. Likewise, the homozygosis of allele G at position +2848 was associated with a discoid rash (p < 0.05). There was no association between JA and TLR9 polymorphisms. These data show that TLR9 polymorphisms do not seem to be a predisposing factor for SLE in the Brazilian population, and that SNPs are not associated with JA.

Resumo O receptor Toll-like 9 (TLR9) é um componente importante do sistema imunológico inato e tem sido associado a várias doenças autoimunes, como o Lúpus Eritematoso Sistêmico (LES). O objetivo deste estudo foi investigar polimorfismos no gene TLR9 em um grupo de pacientes brasileiros com LES e sua associação com a manifestação clínica, particularmente a artropatia de Jaccoud (JA). Foram analisadas amostras de DNA de 204 pacientes com LES, e um subgrupo com JA (n=24). Um grupo de controle (n=133) da mesma cidade também foi incluído. Os polimorfismos de nucleotídeos únicos TLR9 (SNPs) (−1237 C>T e +2848 G>A) foram identificados pela análise de sequenciamento. A frequência do genótipo genético TLR9 foi semelhante tanto em pacientes com LES quanto no grupo controle. Em toda a população de LES, foi encontrada associação entre a homozigose do alelo C na posição −1237 com psicose e anemia (p < 0,01). Da mesma forma, a homozigose do alelo G na posição +2848 foi associada a uma erupção cutânea discoide (p < 0,05). Não houve associação entre polimorfismos JA e TLR9. Esses dados mostram que os polimorfismos TLR9 não parecem ser um fator predisponível para o LES na população brasileira, e que os SNPs não estão associados ao JA.

Reverse Shoulder Arthroplasty: Evaluation of the Clinical and Functional Outcomes per Etiology.

Objective The present study aimed to evaluate the clinical outcomes of reverse shoulder arthroplasty to treat several conditions. Methods Retrospective, longitudinal study analyzing the Constant and University of California at Los Angeles (UCLA) scores and range of motion of patients undergoing reverse shoulder arthroplasty. Results In total, 28 patients were analyzed, with a mean age of 75.6 years old. The mean duration of follow-up was 45 months. Overall, there was a significant variation ( p < 0.0001) between the preoperative (10.2 points) and the postoperative UCLA scores (29.6 points), corresponding to a relative increase of approximately 200%. In addition, the mean Constant score was 67.8, and the complication rate was 17.8%. As for functional outcomes per etiology, fracture sequelae cases presented the best mean elevation (165°), Constant score (79 points), postoperative UCLA score (32.5 points), and absolute delta UCLA score increase (22 points), but with no statistical significance. However, cases operated for fracture sequelae showed significantly higher elevation ( p = 0.027) and Constant score ( p = 0.047) compared to rotator cuff arthropathy cases. In addition, the lowest mean postoperative Constant and UCLA scores were observed for the following etiologies: primary arthrosis, acute fracture, and arthroplasty revision. Conclusion Reverse shoulder arthroplasty showed satisfactory functional outcomes and may be a treatment option not only for rotator cuff arthropathy but for several other conditions.

Reverse Shoulder Arthroplasty: Evaluation of the Clinical and Functional Outcomes per Etiology / Artroplastia reversa de ombro: Avaliação dos resultados clínicos e funcionais de acordo com a etiologia

Abstract Objective The present study aimed to evaluate the clinical outcomes of reverse shoulder arthroplasty to treat several conditions. Methods Retrospective, longitudinal study analyzing the Constant and University of California at Los Angeles (UCLA) scores and range of motion of patients undergoing reverse shoulder arthroplasty. Results In total, 28 patients were analyzed, with a mean age of 75.6 years old. The mean duration of follow-up was 45 months. Overall, there was a significant variation (p< 0.0001) between the preoperative (10.2 points) and the postoperative UCLA scores (29.6 points), corresponding to a relative increase of approximately 200%. In addition, the mean Constant score was 67.8, and the complication rate was 17.8%. As for functional outcomes per etiology, fracture sequelae cases presented the best mean elevation (165°), Constant score (79 points), postoperative UCLA score (32.5 points), and absolute delta UCLA score increase (22 points), but with no statistical significance. However, cases operated for fracture sequelae showed significantly higher elevation (p= 0.027) and Constant score (p= 0.047) compared to rotator cuff arthropathy cases. In addition, the lowest mean postoperative Constant and UCLA scores were observed for the following etiologies: primary arthrosis, acute fracture, and arthroplasty revision. Conclusion Reverse shoulder arthroplasty showed satisfactory functional outcomes and may be a treatment option not only for rotator cuff arthropathy but for several other conditions.

Resumo Objetivo Avaliar os resultados clínicos da artroplastia reversa do ombro no tratamento de suas diversas indicações. Métodos Estudo longitudinal retrospectivo que analisou os resultados dos escores Constant, UCLA e amplitudes de movimentos dos pacientes submetidos à artroplastia reversa do ombro. Resultados Foram analisados 28 pacientes, a média de idade foi de 75.6 anos, com seguimento médio de 45 meses. No geral, obtivemos uma variação significativa (p< 0,0001) entre o escore UCLA pré-operatório (10,2 pontos) e o escore UCLA pós-operatório (29,6 pontos), o que corresponde a um aumento relativo de aproximadamente 200%. Além disso, obtivemos pontuação média do escore Constant de 67,8 e uma taxa de complicações de 17,8%. Quanto aos resultados funcionais segundo as indicações, os casos de sequela de fratura apresentaram as melhores médias de elevação (165°), escore Constant (79 pontos), escore UCLA pós-operatório (32,5 pontos) e aumento absoluto na variação do escore UCLA (22 pontos), sem significância estatística. Porém, identificou-se que os casos operados por sequela de fratura apresentaram elevação (p= 0,027) e pontuação no escore Constant (p= 0,047) significativamente maiores em relação aos casos de artropatia do manguito rotador. Além disso, observamos que as menores médias dos escores Constant e UCLA pós-operatórios foram obtidos nas seguintes etiologias: artrose primária, fratura aguda e revisão de artroplastia. Conclusão A artroplastia reversa de ombro apresentou resultados funcionais satisfatórios, podendo ser uma opção de tratamento não somente nos casos de artropatia do manguito rotador, mas também em várias outras patologias.

Radiographic aspects in individuals infected by human T-lymphotropic virus type 1 (HTLV-1) with joint pain.

BACKGROUND: Joint pain in the absence or with little synovitis is observed in a large percentage of HTLV-1 infected subjects. As the virus infect CD4 + and CD8 + positive, macrophages and B cells an exaggerated production of pro-inflammatory cytokines is detected in these patients. However, the possible association of HTLV-1 infection with autoimmune diseases has not been documented definitively and the clinical characteristics of HTLV-1 associated arthropathy has not been defined. The objective this study is to describe clinic and radiographic features in HTLV-1-infected individuals with complaints of joint pain. METHODS: Cross-sectional study enrolling HTLV-1-infected individuals with chronic joint pain, aged up to 75 years, both genders and seronegative controls with osteoarthritis. All participants underwent conventional radiography of the hips, knees and ankles. RESULTS: Eighty-one HTLV-1 infected patients and 30 subjects with osteoarthritis participated in the study. Polyarticular and symmetrical arthritis prevailed in the HTLV-1 positive group (54%), while oligoarticular and asymmetrical (44%) were more common in controls (p < 0.05). The frequency of enthesophytes (90%) in HTLV-1-infected patients was greater than in the control group (73%) (p < 0.05). Radiographic features were similar in HTLV-1 carriers and in patients with probable or definite HTLV-1 associated myelopathy. The presence of enthesophytes in the absence of joint space reduction or osteophytes was only observed in HTLV-1-infected individuals (p < 0.001). Magnetic resonance imaging of the ankles of five HTLV-1-infected patients and five controls demonstrated a higher frequency of enthesitis, bursitis and osteitis in the HTLV-1 infected group. CONCLUSION: HTLV-1-associated arthropathy is clinically characterized by symmetrical polyarthralgia and the main radiological finding is the presence of enthesophytes in the absence of osteophytes and joint space narrowing.