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2.
Reumatol. clín. (Barc.) ; 20(3): 117-122, Mar. 2024. ilus, tab, graf
Artigo em Inglês | IBECS | ID: ibc-231122

RESUMO

Objectives: Adenosine deaminase (ADA) activity has shown good performance in diagnosing pleural, peritoneal, and meningeal tuberculosis. This meta-analysis aimed to evaluate the performance of measuring ADA activity in synovial fluid for the early diagnosis of joint tuberculosis. Methods: We searched published information in MEDLINE, Embase, Cochrane Library, Web of Science, and MedRxiv databases, as well as unpublished information in the American College of Rheumatology and European League Against Rheumatism for conference abstracts (2012–2021). We also scanned the reference lists of articles. Two reviewers independently applied the criteria for selection, assessed quality, and extracted data (PROSPERO number CRD42021284472). Results: Seven independent studies (N=305 subjects) that compared ADA activity in synovial fluid with a composite reference diagnostic method for tuberculosis were included. Overall, the risk of bias was judged low. Studies were classified as high quality (n=3; 148 subjects) and low quality (n=4; 157 subjects). Pooled sensitivity and specificity of ADA activity was 94% (95% confidence interval [CI], 0.89–98; I2=23%) and 88% (95% CI, 83–92; I2=83%), respectively. The random-effects model for pooled diagnostic Odds ratio was 67.1 (95%CI, 20.3–222.2; I2=30%). The receiver operating characteristic curve area was 0.96 (95% CI, 0.92–0.99). Meta-regression did not identify the quality of the study, country of publication, or the type of assay as a source of heterogeneity. Conclusions: Measuring ADA activity in synovial fluid demonstrates good performance for the early diagnosis of joint tuberculosis.(AU)


Objetivos: La actividad de la adenosina desaminasa (ADA) ha mostrado un buen desempeño en el diagnóstico de la tuberculosis pleural, peritoneal y meníngea. Este metaanálisis tuvo como objetivo evaluar el rendimiento de la medición de la actividad de la ADA en el líquido sinovial para el diagnóstico precoz de la tuberculosis articular. Métodos: Se realizaron búsquedas de resúmenes de congresos en la información publicada en las bases de datos MEDLINE, Embase, Cochrane Library, Web of Science y MedRxiv, así como en información no publicada en el American College of Rheumatology y la European League Against Rheumatism (2012-2021). También se escanearon las listas de referencias de los artículos. Dos revisores aplicaron de forma independiente los criterios de selección, evaluaron la calidad y extrajeron los datos (número PROSPERO CRD42021284472). Resultados: Se incluyeron siete estudios independientes (n=305 sujetos) que compararon la actividad de la ADA en el líquido sinovial con un método diagnóstico compuesto de referencia para la tuberculosis. En general, el riesgo de sesgo se consideró bajo. Los estudios se clasificaron como de alta calidad (n=3; 148 sujetos) y de baja calidad (n=4; 157 sujetos). La sensibilidad y la especificidad agrupadas de la actividad de la ADA fueron del 94% (intervalo de confianza [IC] del 95%: 0,89-98; I2=23%) y del 88% (IC95%: 83-92; I2=83%), respectivamente. El modelo de efectos aleatorios para el odds ratio diagnóstico agrupado fue de 67,1 (IC95%: 20,3-222,2; I2=30%). El área de la curva característica de operación del receptor fue de 0,96 (IC95%: 0,92-0,99). La metarregresión no identificó la calidad del estudio, el país de publicación o el tipo de ensayo como fuente de heterogeneidad.Conclusiones: La medición de la actividad de ADA en el líquido sinovial demuestra un buen rendimiento para el diagnóstico precoz de la tuberculosis articular.(AU)


Assuntos
Humanos , Masculino , Feminino , Artrite/diagnóstico , Adenosina Desaminase , Líquido Sinovial , Tuberculose Pleural/diagnóstico , Sensibilidade e Especificidade , Reumatologia , Doenças Reumáticas , Tuberculose/classificação
3.
Reumatol. clín. (Barc.) ; 20(3): 166-168, Mar. 2024. tab
Artigo em Espanhol | IBECS | ID: ibc-231131

RESUMO

La artritis pseudoséptica es una complicación infrecuente de las inyecciones intraarticulares de ácido hialurónico que puede ser difícil de diferenciar de la artritis séptica. Los pacientes presentan dolor agudo y derrame articular, alrededor de 24 h después de la segunda o tercera infiltración. Presentamos el caso de una paciente con artritis reumatoide seropositiva y brotes previos de artritis pseudosépticas de rodilla que ha desarrollado una artritis de rodilla de características similares después de su primera inyección de ácido hialurónico.(AU)


Pseudoseptic arthritis is a rare complication of hyaluronic acid injections that often is difficult to differentiate from septic arthritis. Patients present acute pain, swelling and joint effusion normally around 24h after the second or third infiltration. We describe a female patient with seropositive rheumatoid arthritis and flare-ups of knee arthritis with pseudoseptic features in the past, who develops pseudoseptic arthritis of the knee following her first injection of hyaluronic acid.(AU)


Assuntos
Humanos , Feminino , Idoso , Artrite/terapia , Ácido Hialurônico/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Dor/tratamento farmacológico , Injeções Intra-Articulares , Reumatologia , Doenças Reumáticas , Pacientes Internados , Exame Físico , Artrite Reumatoide/reabilitação , Manejo da Dor
4.
5.
Aust J Gen Pract ; 53(3): 116-120, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38437651

RESUMO

BACKGROUND: Foot pain is present in up to 36% of adults and more common in women, patients aged >55 years and patients who are obese. Embarking on an exercise program to improve health and fitness can result in foot pain. Foot and ankle arthritis accounts for 156,000 general practice presentations nationally each year, and prompt diagnosis and treatment can expedite recovery. OBJECTIVE: This article discusses three common presentations of foot pain following exercise: stress fractures, plantar fasciitis and arthritis. The reader will understand how to take an appropriate history, perform an examination and order suitable investigations for these conditions, and when to refer on to allied health, orthopaedic surgeon or a sport and exercise physician. DISCUSSION: Prompt diagnosis and treatment, particularly focusing on offloading, lifestyle modifications and footwear, using a multidisciplinary team can prevent the development of chronic musculoskeletal pain and expedite recovery and return to activity.


Assuntos
Artrite , Dor , Adulto , Humanos , Feminino , Dor/etiologia , Exercício Físico , Extremidade Inferior , Terapia Comportamental
7.
BMC Musculoskelet Disord ; 25(1): 199, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38443851

RESUMO

BACKGROUND: In cases of wrist arthritis, proximal row carpectomy (PRC) has been widely utilized and shown favorable long-term outcomes. However, its applicability is limited in cases where arthritis extends to the lunate fossa or capitate. Recently, surgical approaches combining various methods of interposition arthroplasty have been introduced to overcome these drawbacks. The purpose of this study was to perform PRC and interposition arthroplasty with dorsal capsule and acellular dermal matrix(ADM),and analyze the clinical outcomes of these procedures. METHODS: Fourteen cases who underwent PRC and interposition arthroplasty using both dorsal capsular flap and ADM were retrospectively recruited. The researchers assessed the patients' Visual Analog Scale (VAS) pain score, Disabilities of the Arm, Shoulder and Hand (DASH) scores, range of motion (ROM), retear, and radiocarpal distance (RCD). RESULTS: One year post-surgery, both the VAS pain scores, DASH scores, and ROM showed statistically significant improvement compared to before the surgery. Upon reviewing the radiological results, the postoperative mean RCD was 4.8 ± 0.8 mm and one year follow up mean RCD was 3.6 ± 0.5 mm at one year post-surgery. Moreover, in the one year follow-up, there was no observed failure of the allodermis graft in any of the cases. CONCLUSION: The PRC and interposition arthroplasty with ADM demonstrated significantly improved clinical outcomes after surgery, showing a maintain of RCD without graft failure effectively.


Assuntos
Derme Acelular , Artrite , Humanos , Estudos Retrospectivos , Artroplastia , Dor
8.
Artigo em Inglês | MEDLINE | ID: mdl-38446548

RESUMO

BACKGROUND: We aimed to find probable correlation between postoperative radiologic variables and clinical outcomes of surgically treated calcaneal fractures. METHODS: In a retrospective study, 70 unilateral displaced intraarticular calcaneal fractures in adults with follow-up more than 1 year were asked to have a visit. Weightbearing radiographs of both ankles were taken and radiologic parameters, including the differences in values in Böhler and Gissane angles in comparison with the uninjured side, and calcaneocuboid and subtalar joint arthritis based on the Kellgren-Lawrence grading scale, were evaluated. They were considered to find any correlation with clinical outcomes assessed by American Orthopaedic Foot and Ankle Society Ankle-Hindfoot scale, visual analogue scale, Foot Function Index, and Tegner Activity Scale. RESULTS: A total of 61 men (87.1%) and nine women (12.9%) with a mean age of 38.9 ± 12.7 years (range, 18-67 years) were included. Mean follow-up visit for the patients was 25.1 ± 12.7 months. Mean scores of American Orthopaedic Foot and Ankle Society Ankle-Hindfoot scale, visual analogue scale, Foot Function Index, and Tegner Activity Scale were 86.7 ± 12.9, 21.3 ± 22.2, 13.1 ± 15.4, and 5.2 ± 1.1, respectively. The mean Gissane angle and Böhler angle differences were -0.2 ± 8.6 and -3.7 ± 7.2, respectively. Regarding the calcaneocuboid arthritis, 50 (71.4%), 14 (20.0%), and six patients (8.6%) were categorized in grades 0, 1, and 2, respectively. Also, subtalar arthritis was seen in 15 (21.4%), 24 (34.3%), 20 (28.6%), and 11 patients (15.7%), categorized as grades 0, 1, 2, and 3, respectively. No statistical correlation was found between any of the radiologic variables and clinical scores. CONCLUSIONS: There was no significant correlation between Böhler and Gissane angles and the clinical outcomes in surgically treated calcaneal fractures. Also, functional outcomes do not change considerably among different grades of arthritis in calcaneocuboid and subtalar joints, at least during short- to mid-term follow-up periods. Radiologic findings after open reduction and internal fixation of calcaneal fractures are not predictors of function of the patients.


Assuntos
Traumatismos do Tornozelo , Artrite , Fraturas Ósseas , Adulto , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/cirurgia , , Fixação Interna de Fraturas
9.
Eur Rev Med Pharmacol Sci ; 28(4): 1366-1374, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38436169

RESUMO

OBJECTIVE: This study aimed to evaluate the effects of affected knee flexion for 24 vs. 72 hours on blood loss, pain, range of motion, and functional outcomes after total knee arthroplasty. PATIENTS AND METHODS: The present study included 46 participants with a mean age of 64.33 ± 6.70 years. The affected knee of the first 23 participants, based on the order of operations, was positioned at 70° flexion for 24 hours, and the knee of the next 23 participants was positioned at 70° flexion for 72 hours. Participants were evaluated before the operation and on postoperative day 3 and week 6. Pain, edema, range of motion, time up and go test scores, and Western Ontario McMaster Universities Arthritis Index scores, hemoglobin, and hematocrit were measured before the operation and on postoperative at day 3 and week 6. RESULTS: We found that the calculated blood loss was 575.07 ± 282.44 and 578.39 ± 297.11 mL in patients who underwent short- and long-duration flexion positioning, respectively (p = 0.921). The active flexion angles at postoperative week 6 were 83.61° ± 22.03° and 105.91° ± 13.06° in the short- and long-duration flexion groups, respectively (p < 0.01). Furthermore, the Western Ontario and McMaster Universities Arthritis Index scores at postoperative week 6 were 35.52 ± 24.71 and 17.17 ± 15.37 in the short- and long-duration flexion groups, respectively (p < 0.01). CONCLUSIONS: Long-duration flexion positioning after total knee arthroplasty may lead to better middle-term flexion range of motion and physical function scores than short-duration flexion positioning.


Assuntos
Artrite , Artroplastia do Joelho , Humanos , Pessoa de Meia-Idade , Idoso , Equilíbrio Postural , Estudos de Tempo e Movimento , Dor
10.
Front Immunol ; 15: 1344313, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38426104

RESUMO

Multicentric reticulohistiocytosis (MRH) is a rare systemic disorder characterized by histiocytic hyperplasia that mainly involves the skin, mucous membranes, and joints. The typical clinical features include papules, nodules, and arthritis. MRH lesions are relatively extensive but small and scattered. Joint inflammation is characterized by diffuse symmetric polyarthritis as the first symptom, which can be severe and disabling due to destructive joint changes. MRH is easily misdiagnosed in clinical practice. Here, we report the case of an elderly male patient who presented with polyarticular pain in the hip and interphalangeal joints as the first manifestation, followed by the development of large, isolated, bulging skin nodules, which are atypical MRH lesions. This is rare in all MRH case reports, and we made the correct diagnosis by combining skin histopathology, immunohistochemistry, and other clinical examinations. We performed surgical treatment on the local skin lesions of this patient. This case suggests that clinicians should actively correlate the condition and accurately diagnose MRH when encountering atypical skin changes or other diseases as the first symptom and explore the mechanisms of MRH and other clinical manifestations.


Assuntos
Artrite , Histiocitose de Células não Langerhans , Dermatopatias , Masculino , Humanos , Idoso , Pele/patologia , Histiocitose de Células não Langerhans/diagnóstico , Histiocitose de Células não Langerhans/tratamento farmacológico , Histiocitose de Células não Langerhans/patologia , Dermatopatias/patologia , Artrite/etiologia , Imuno-Histoquímica
11.
Front Immunol ; 15: 1318737, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38495893

RESUMO

Background: Perchlorates, nitrates, and thiocyanates are prevalent environmental chemicals. Their potential association with arthritis remains unexplored. This study aimed to investigate the link between perchlorate, nitrate, and thiocyanate exposure and arthritis, as well as the potential role of inflammation in this context. Methods: Utilizing the National Health and Nutrition Examination Survey (NHANES) data spanning from 2005 to 2016, the study enrolled 6597 participants aged 20-59 (young and middle-aged), of which 1045 had arthritis. Employing multivariate logistic regression modeling, multiple linear regression models, restricted cubic spline analysis, Bayesian kernel machine regression (BKMR) modeling, and mediation analysis, we assessed these relationships. Results: There was a significant positive association between elevated urinary thiocyanate levels and arthritis risk [1.19 (1.11, 1.28)]. This association held true across subgroups of osteoarthritis (OA) [1.24 (1.10, 1.40)] and rheumatoid arthritis (RA) [1.33 (1.15, 1.55)]. Thiocyanate levels displayed a dose-dependent relationship with arthritis risk, showing a linear trend (nonlinear P > 0.05). Conversely, perchlorate and nitrate did not exhibit associations with arthritis risk. BKMR outcomes highlighted a positive correlation between a mixture of perchlorate, nitrate, and thiocyanate and arthritis risk, with thiocyanate being the predominant predictors. Moreover, BKMR and generalized linear model analyses unveiled no significant synergistic effect of urinary perchlorate, nitrate, and thiocyanate on arthritis risk. Furthermore, thiocyanate exposure has been linked to elevated levels of inflammatory indicators (white blood cell, neutrophils, lymphocytes, and systemic immune-inflammatory index (SII)). Conclusion: Heightened thiocyanate exposure may be linked to elevated arthritis risk, either single or in combined effects. Additionally, thiocyanate exposure is associated with heightened inflammation levels.


Assuntos
Artrite , Nitratos , Adulto , Pessoa de Meia-Idade , Humanos , Nitratos/efeitos adversos , Nitratos/urina , Tiocianatos/urina , Percloratos/efeitos adversos , Percloratos/urina , Inquéritos Nutricionais , Teorema de Bayes , Inflamação/epidemiologia , Artrite/epidemiologia
12.
Eur Rev Med Pharmacol Sci ; 28(5): 1760-1767, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38497858

RESUMO

OBJECTIVE: This study aimed to describe the clinical spectrum of primary Sjögren's syndrome (pSS) patients with anti-Ro/SS-A and anti-La/SS-B negativity. PATIENTS AND METHODS: From a single-center study population of consecutive SS patients fulfilling the 2016 ACR-EULAR classification criteria, those with triple seronegativity anti-Ro/SS-A (anti-Sjögren's-syndrome-related antigen A autoantibody), anti-La/SS-B (anti-Sjögren's-syndrome-related antigen B autoantibody), rheumatoid factor (RF) (-) and antinuclear antibody (ANA)(+)] or [anti-Ro/SS-A(-), anti-La/ SS-B(-), RF(+) and ANA(-)] and quad¬ruple seronegativity [anti-Ro/SS-A(-), anti-La/SS-B(-), RF(-) and ANA(-)] were identified retrospectively. Clinical, serological, and laboratory features were compared. A comparison between triple and quadruple seronegative pSS patients was also performed. RESULTS: We included 184 patients (168 women, 16 men) with a mean age at diagnosis of 50.1±13.1 years. The most common subjective presenting features at the time of the diagnosis were dry mouth (94.5%) and dry eye (91.3 %). ANA positivity was 57.0%, and RF positivity was 30.4%. Salivary gland enlargement, arthritis, Raynaud's phenomenon, vasculitis, interstitial lung disease (ILD), neurological involvement, primary biliary cholangitis (PBC), lymphopenia, and thrombocytopenia were observed in ANA+ and RF+ patients but not in seronegative patients (p<0.0001). Arthritis was observed most frequently in RF-positive patients and secondly in ANA-positive patients, whereas arthritis was not observed in seronegative patients (p<0.0001). Autoimmune thyroiditis was present in 65 patients (35.0%), 84.6% of these patients were ANA positive while 12.3% were ANA negative (p=0.0014), RF positivity was 30.7% while RF negativity was 6.15% (p=0.001), 23.0% were both ANA and RF positive while 12.3% were seronegative (p<0.002). Cryoglobulinemia, renal disease, and lymphoma were not observed in any of the patients. CONCLUSIONS: We confirm the strong influence of immunological markers on the phenotype of primary SS at diagnosis.


Assuntos
Artrite , Síndrome de Sjogren , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Síndrome de Sjogren/diagnóstico , Estudos Retrospectivos , Fator Reumatoide , Anticorpos Antinucleares , Autoanticorpos
13.
J Clin Invest ; 134(5)2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38426494

RESUMO

Nuclear factor of activated T-cells 5 (NFAT5), an osmo-sensitive transcription factor, can be activated by isotonic stimuli, such as infection. It remains unclear, however, whether NFAT5 is required for damage-associated molecular pattern-triggered (DAMP-triggered) inflammation and immunity. Here, we found that several DAMPs increased NFAT5 expression in macrophages. In particular, serum amyloid A (SAA), primarily generated by the liver, substantially upregulated NFAT5 expression and activity through TLR2/4-JNK signalling pathway. Moreover, the SAA-TLR2/4-NFAT5 axis promoted migration and chemotaxis of macrophages in an IL-6- and chemokine ligand 2-dependent (CCL2-dependent) manner in vitro. Intraarticular injection of SAA markedly accelerated macrophage infiltration and arthritis progression in mice. By contrast, genetic ablation of NFAT5 or TLR2/4 rescued the pathology induced by SAA, confirming the SAA-TLR2/4-NFAT5 axis in vivo. Myeloid-specific depletion of NFAT5 also attenuated SAA-accelerated arthritis. Of note, inflammatory arthritis in mice strikingly induced SAA overexpression in the liver. Conversely, forced overexpression of the SAA gene in the liver accelerated joint damage, indicating that the liver contributes to bolstering chronic inflammation at remote sites by secreting SAA. Collectively, this study underscores the importance of the SAA-TLR2/4-NFAT5 axis in innate immunity, suggesting that acute phase reactant SAA mediates mutual interactions between liver and joints and ultimately aggravates chronic arthritis by enhancing macrophage activation.


Assuntos
Artrite , Proteína Amiloide A Sérica , Animais , Camundongos , Artrite/metabolismo , Inflamação/patologia , Fígado/metabolismo , Ativação de Macrófagos , Proteína Amiloide A Sérica/genética , Proteína Amiloide A Sérica/metabolismo , Receptor 2 Toll-Like/genética , Receptor 2 Toll-Like/metabolismo , Fatores de Transcrição/metabolismo
14.
Genome Med ; 16(1): 42, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38509600

RESUMO

BACKGROUND: Ineffective drug treatment is a major problem for many patients with immune-mediated inflammatory diseases (IMIDs). Important reasons are the lack of systematic solutions for drug prioritisation and repurposing based on characterisation of the complex and heterogeneous cellular and molecular changes in IMIDs. METHODS: Here, we propose a computational framework, scDrugPrio, which constructs network models of inflammatory disease based on single-cell RNA sequencing (scRNA-seq) data. scDrugPrio constructs detailed network models of inflammatory diseases that integrate information on cell type-specific expression changes, altered cellular crosstalk and pharmacological properties for the selection and ranking of thousands of drugs. RESULTS: scDrugPrio was developed using a mouse model of antigen-induced arthritis and validated by improved precision/recall for approved drugs, as well as extensive in vitro, in vivo, and in silico studies of drugs that were predicted, but not approved, for the studied diseases. Next, scDrugPrio was applied to multiple sclerosis, Crohn's disease, and psoriatic arthritis, further supporting scDrugPrio through prioritisation of relevant and approved drugs. However, in contrast to the mouse model of arthritis, great interindividual cellular and gene expression differences were found in patients with the same diagnosis. Such differences could explain why some patients did or did not respond to treatment. This explanation was supported by the application of scDrugPrio to scRNA-seq data from eleven individual Crohn's disease patients. The analysis showed great variations in drug predictions between patients, for example, assigning a high rank to anti-TNF treatment in a responder and a low rank in a nonresponder to that treatment. CONCLUSIONS: We propose a computational framework, scDrugPrio, for drug prioritisation based on scRNA-seq of IMID disease. Application to individual patients indicates scDrugPrio's potential for personalised network-based drug screening on cellulome-, genome-, and drugome-wide scales. For this purpose, we made scDrugPrio into an easy-to-use R package ( https://github.com/SDTC-CPMed/scDrugPrio ).


Assuntos
Artrite , Doença de Crohn , Humanos , Medicina de Precisão , Inibidores do Fator de Necrose Tumoral , Perfilação da Expressão Gênica , Agentes de Imunomodulação , Análise de Célula Única , Análise de Sequência de RNA
15.
Vestn Oftalmol ; 140(1): 19-24, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38450462

RESUMO

Degenerative changes in the peripheral regions of the ocular fundus allow a closer look at both the role of collagen genes and their mutations in children with high myopia. PURPOSE: The study investigates the features of genetic mutations in children with high myopia combined with peripheral retinal degenerations. MATERIAL AND METHODS: Study group was formed from the database of genetic studies of the Scientific and Clinical Center OOO Oftalmic, which consists of 4362 patients referred for medical genetic counseling and molecular genetic testing from 2016 to 2021. Selection criteria were: male and female patients, aged 5-18 years old, who had the following clinical signs: high myopia (>6.00 D) and the presence of peripheral retinal degenerations (PRD). The study considered both isolated cases of ophthalmic pathology, as well as its syndromic forms. The final selection included 40 children. All patients had consulted with a geneticist. Whole-exome sequencing (WES), next generation sequencing (NGS), and single gene sequencing were conducted by taking 5 mL of peripheral venous blood and extracting deoxyribonucleic acid (DNA). RESULTS: In patients with isolated cases of ophthalmic pathology (peripheral retinal degenerations and high myopia) with a confirmed genetic diagnosis, mutations in the COL2A1 gene were detected in 77.4% of cases, and in the COL11A1 gene - in 22.6% of cases. In Stickler syndrome with a confirmed genetic diagnosis, mutations in the COL2A1 gene were detected in 33.3% of cases. In Marshall syndrome, the mutation in the COL11A1 gene was detected in 11.1% of cases. In children with Ehlers-Danlos, Knobloch type 1, Cohen, Marfan, Wagner syndromes mutations in the genes COL5A1, COL18A1, VPS13B, FBN1, VCAN were detected in 55.6% of cases. In 33.3% of cases of Knobloch type 1, Cohen, Wagner syndromes the mutation is found in both copies of the gene (i.e., in both chromosomes), which leads to the development of peripheral retinal degenerations with high myopia. CONCLUSION: The results of the conducted molecular genetic testing expand our understanding of the mutation spectrum in the genes of children with both isolated cases of ophthalmic pathology, as well as syndromic pathology.


Assuntos
Artrite , Oftalmopatias Hereditárias , Degeneração Retiniana , Versicanas/deficiência , Criança , Humanos , Feminino , Masculino , Pré-Escolar , Adolescente , Degeneração Retiniana/diagnóstico , Degeneração Retiniana/genética , Mutação , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética
16.
Braz J Biol ; 84: e275707, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38451629

RESUMO

Arthralgex is a proprietary polyherbal preparation used in clinics to treat rheumatoid arthritis for decades. Its safety evaluation has not been reported. The study is aimed at evaluating the safety of arthralgex using Wistar rats, as per OECD guidelines. According to OECD 407, rats of either gender were separated into six groups (n= 6 each). The dose of arthralgex was decided based on an acute toxicity study. Under the treatment group, separate set of rats received arthralgex in three dose levels like - low, medium, and high (200, 400 & 800 mg/kg/day; p.o for 28 days). Satellite groups received high dose (800 mg/kg/day, p.o for 28 days), and control group received equal volume of vehicle. On day 28, blood samples were collected to estimate hematology and biochemistry parameters. Subsequently, rats were euthanized to collect organs for weighing and histopathology. Satellite groups were maintained for an additional 14 days post-treatment to assess toxicity reversibility and euthanized on day 43. Arthralgex did not show any signs of toxicity or major change in body weight in the acute toxicity study. Arthralgex has no significant adverse effect on general health status as confirmed by body weight, feed intake, hematology, biochemistry, urine analysis, internal organs, relative organ weight, and histopathological evaluation after 28 day treatment. Arthralgex could be considered safe for short-term treatment. Present findings may help researchers in dose fixing for sub-chronic and chronic toxicity studies, which is essential for safety evaluation for long-term use.


Assuntos
Artrite , Ratos , Animais , Ratos Wistar , Ingestão de Alimentos , Peso Corporal
17.
Reumatol Clin (Engl Ed) ; 20(3): 117-122, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38494302

RESUMO

OBJECTIVES: Adenosine deaminase (ADA) activity has shown good performance in diagnosing pleural, peritoneal, and meningeal tuberculosis. This meta-analysis aimed to evaluate the performance of measuring ADA activity in synovial fluid for the early diagnosis of joint tuberculosis. METHODS: We searched published information in MEDLINE, Embase, Cochrane Library, Web of Science, and MedRxiv databases, as well as unpublished information in the American College of Rheumatology and European League Against Rheumatism for conference abstracts (2012-2021). We also scanned the reference lists of articles. Two reviewers independently applied the criteria for selection, assessed quality, and extracted data (PROSPERO number CRD42021284472). RESULTS: Seven independent studies (N=305 subjects) that compared ADA activity in synovial fluid with a composite reference diagnostic method for tuberculosis were included. Overall, the risk of bias was judged low. Studies were classified as high quality (n=3; 148 subjects) and low quality (n=4; 157 subjects). Pooled sensitivity and specificity of ADA activity was 94% (95% confidence interval [CI], 0.89-98; I2=23%) and 88% (95% CI, 83-92; I2=83%), respectively. The random-effects model for pooled diagnostic Odds ratio was 67.1 (95%CI, 20.3-222.2; I2=30%). The receiver operating characteristic curve area was 0.96 (95% CI, 0.92-0.99). Meta-regression did not identify the quality of the study, country of publication, or the type of assay as a source of heterogeneity. CONCLUSIONS: Measuring ADA activity in synovial fluid demonstrates good performance for the early diagnosis of joint tuberculosis.


Assuntos
Artrite , Tuberculose Osteoarticular , Humanos , Adenosina Desaminase/análise , Líquido Sinovial/química , Sensibilidade e Especificidade
18.
Acta Cir Bras ; 39: e392024, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38511763

RESUMO

PURPOSE: To evaluate morphological aspects and inducible nitric oxide synthase (iNOS) gene and protein expression in a model of acute inflammation. METHODS: Thirty-six female Wistar rats were assigned into three groups: control (saline, n = 12), sham (arthritis, n = 12), and PBM (arthritis and photobiomodulation, n = 12). Arthritis induction was performed with 200 µg of intra-articular Zymosan in sham and PBM animals. PBM was performed 24 h after induction with a laser device (λ = 808 nm, 25 mW of nominal power, fluence of 20 J/cm2, beam area of 0.02 mm2, time of 33 s, total energy of 0.825 J) with punctual and single dose application. Morphological analysis of joint structure (HE) and immunohistochemistry (anti-iNOS antibody) were performed on knee samples, and synovial tissue was submitted to RNA extraction, cDNA synthesis and gene expression analysis by quantitative polymerase chain reaction. Statistical analyses were performed with p < 0.05. RESULTS: It was observed an increase in the thickness of the synovial lining epithelium and inflammatory infiltrate in sham compared to PBM. Gene expression analysis showed higher iNOS expression in PBM, and iNOS protein expression decreased in PBM compared to sham. CONCLUSIONS: Photobiomodulation decreased inflammation in PBM animals, upregulated iNOS gene expression, however down egulated protein expression compared to sham.


Assuntos
Artrite , Terapia com Luz de Baixa Intensidade , Ratos , Animais , Feminino , Ratos Wistar , Inflamação/radioterapia
19.
Sci Rep ; 14(1): 5751, 2024 03 08.
Artigo em Inglês | MEDLINE | ID: mdl-38459108

RESUMO

L. edodes (L. edodes) is the most consumed mushroom in the world and has been well known for its therapeutic potential as an edible and medicinal candidate, it contains dietary fibers, vitamins, proteins, minerals, and carbohydrates. In the current study butanolic extract of mushroom was used to form semisolid butanol extract. The current study aimed to explore biometabolites that might have biological activities in n-butanol extract of L. edodes using FT-IR and GC-MS and LC-MS. The synergistic properties of bioactive compounds were futher assessed by performing different biological assays such as antioxidant, anti-inflammatory and antidiabetic. FTIR spectra showed different functional groups including amide N-H group, Alkane (C-H stretching), and (C = C stretching) groups at different spectrum peaks in the range of 500 cm-1 to 5000 cm-1 respectively. GC-MS profiling of n-butanol extract depicted 34 potent biomolecules among those dimethyl; Morphine, 2TMS derivative; Benzoic acid, methyl ester 1-(2-methoxy-1-methylethoxy)-2-propanol were spotted at highest range. Results indicate that L. edodes n-butanol extract showed a maximum anti-inflammatory potential 91.4% at 300 mg/mL. Antioxidant activity was observed by measuring free radical scavenging activity which is 64.6% at optimized concentration along with good antidiabetic activity. In-silico study executed the biopotential of active ingredient morphine which proved the best docking score (- 7.0 kJ/mol) against aldose reductase. The in-silico drug design analysis was performed on biometabolites detected through GC-MS that might be a potential target for sulfatase-2 to treat ruminated arthritis. Morphine binds more strongly (- 7.9 kJ/mol) than other bioactive constituents indicated. QSAR and ADMET analysis shown that morphine is a good candidates against ruminated arthritis. The current study showed that L. edodes might be used as potent drug molecules to cure multiple ailments. As mushrooms have high bioactivity, they can be used against different diseases and to develop antibacterial drugs based on the current situation in the world in which drug resistance is going to increase due to misuse of antibiotics so new and noval biological active compounds are needed to overcome the situation.


Assuntos
1-Butanol , Artrite , Humanos , Butanóis , Espectroscopia de Infravermelho com Transformada de Fourier , Antioxidantes/química , Antibacterianos , Compostos Fitoquímicos/farmacologia , Compostos Fitoquímicos/química , Anti-Inflamatórios/farmacologia , Anti-Inflamatórios/análise , Hipoglicemiantes/farmacologia , Derivados da Morfina , Extratos Vegetais/química
20.
Parasites Hosts Dis ; 62(1): 131-138, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38443776

RESUMO

Halicephalobus gingivalis is a free-living nematode that occasionally causes infections in horses. We report a rare case of limb fracture of horse caused by infection with H. gingivalis. An 8-year-old mare was referred to the Veterinary Hospital of the Federal University of Lavras with claudication grade 5 of the right hind limb, that had been started 3 months ago. The patient had aseptic arthritis in the tarsal joint and edema that extended to the quartile. The radiographic examination showed punctate osteolysis with exacerbation of bone trabeculation along the calcaneus, talus, proximal epiphysis of the third metatarsal and distal epiphysis of the tibia. Treatment for arthritis was initiated, and the animal showed a slight improvement in limb function. However, 21 days after hospitalization, due to a comminuted fracture of the tibia, it was euthanized. At necropsy, yellowish masses were found from the metatarsal to the tibia, and around the tarsal bones and joint. Similar masses were also found in the left kidney. Numerous nematodes compatible with H. gingivalis were identified. This is the first description of a pathological fracture caused by H. gingivalis infection in an equine limb.


Assuntos
Artrite , Fraturas Ósseas , Fraturas Espontâneas , Rabditídios , Animais , Feminino , Cavalos , Extremidade Inferior
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