Pub Date : 2024-06-24DOI: 10.4081/reumatismo.2024.1691
M Carpio Alvarez, A Cintado Benitez, T Diaz Argudin, H Nodarse Cuni, M D C Dominguez Horta, J R Fernández Massó
Objective: To evaluate the association of the rs11125908 polymorphism in the COMMD1 gene in the Cuban population with rheumatoid arthritis (RA).
Methods: In this case-control study, 161 RA patients and 150 control subjects were genotyped for rs11125908 by the allele-specific polymerase chain reaction method. DNA sequencing was used to verify the assignation of the polymorphism. The odds ratios (OR) and their 95% confidence interval were calculated by logistic regression to determine the associations between genotypes and RA using the SNPStats software.
Results: An association of the single nucleotide polymorphism with the disease was found in the overdominant model (p=0.025; OR=1.91) for the AG genotype. Our analyses revealed an association between rs11125908 and the subgroup of patients with swollen joints < median under the codominant model for AG (p=0.034; OR=2.30) and GG genotype (p=0.034; OR=0.82) and with the overdominant model (p=0.01; OR=2.38). The subgroup of patients with an age of onset lower than the mean and AG genotype showed an association in the overdominant model (p=0.027; OR=2.27). Disease activity score 28 with erythrocyte sedimentation rate and disease duration variables were not associated with the rs11125908 polymorphism.
Conclusions: rs11125908 was associated with RA and with the number of swollen joints and age of onset subgroup analyses. We provide concepts for treatments for RA, based on pharmacological management of COMMD1 expression.
目的评估古巴人群中 COMMD1 基因 rs11125908 多态性与类风湿关节炎(RA)的相关性:在这项病例对照研究中,采用等位基因特异性聚合酶链反应法对161名RA患者和150名对照组进行了rs11125908基因分型。DNA 测序用于验证多态性的归属。利用SNPStats软件,通过逻辑回归计算出几率比(OR)及其95%置信区间,以确定基因型与RA之间的关联:在AG基因型的超显性模型中发现了单核苷酸多态性与疾病的关联(P=0.025;OR=1.91)。我们的分析显示,在AG基因型(p=0.034;OR=2.30)和GG基因型(p=0.034;OR=0.82)的共显性模型下(p=0.01;OR=2.38),rs11125908与关节肿胀<中位数的亚组患者存在关联。发病年龄低于平均年龄和 AG 基因型的患者亚组在超显性模型中显示出相关性(p=0.027;OR=2.27)。结论:rs11125908 与 RA 以及关节肿胀数量和发病年龄亚组分析相关。我们基于对 COMMD1 表达的药理学管理,提出了治疗 RA 的概念。
{"title":"Association between <i>COMMD1</i> gene polymorphism rs11125908 and rheumatoid arthritis in the Cuban population.","authors":"M Carpio Alvarez, A Cintado Benitez, T Diaz Argudin, H Nodarse Cuni, M D C Dominguez Horta, J R Fernández Massó","doi":"10.4081/reumatismo.2024.1691","DOIUrl":"10.4081/reumatismo.2024.1691","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the association of the rs11125908 polymorphism in the COMMD1 gene in the Cuban population with rheumatoid arthritis (RA).</p><p><strong>Methods: </strong>In this case-control study, 161 RA patients and 150 control subjects were genotyped for rs11125908 by the allele-specific polymerase chain reaction method. DNA sequencing was used to verify the assignation of the polymorphism. The odds ratios (OR) and their 95% confidence interval were calculated by logistic regression to determine the associations between genotypes and RA using the SNPStats software.</p><p><strong>Results: </strong>An association of the single nucleotide polymorphism with the disease was found in the overdominant model (p=0.025; OR=1.91) for the AG genotype. Our analyses revealed an association between rs11125908 and the subgroup of patients with swollen joints < median under the codominant model for AG (p=0.034; OR=2.30) and GG genotype (p=0.034; OR=0.82) and with the overdominant model (p=0.01; OR=2.38). The subgroup of patients with an age of onset lower than the mean and AG genotype showed an association in the overdominant model (p=0.027; OR=2.27). Disease activity score 28 with erythrocyte sedimentation rate and disease duration variables were not associated with the rs11125908 polymorphism.</p><p><strong>Conclusions: </strong>rs11125908 was associated with RA and with the number of swollen joints and age of onset subgroup analyses. We provide concepts for treatments for RA, based on pharmacological management of COMMD1 expression.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 2","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-06-24DOI: 10.4081/reumatismo.2024.1687
G Fabbriciani, A Colombini, C Messina, G Adami
In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome is described. The patient had elbow, pelvis, and lower limb pain and a hard mass in the hip and olecranon regions. Increased levels of inorganic phosphorus (Pi) and C-reactive protein were observed. After treating the patient with conventional drugs, we tested denosumab, which reduced but did not normalize the Pi.
本病例报告描述了一种新型 N-乙酰半乳糖氨基转移酶 3 基因同源突变(c.782 G>A;p.R261Q)与高磷血症家族性肿瘤性钙化症/骨质疏松症-高磷血症综合征相关联。患者有肘部、骨盆和下肢疼痛,髋部和肩胛骨部位有硬块。观察到无机磷(Pi)和 C 反应蛋白水平升高。在使用常规药物治疗后,我们对地诺单抗进行了检测,结果表明地诺单抗能降低无机磷水平,但不能使其恢复正常。
{"title":"Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report.","authors":"G Fabbriciani, A Colombini, C Messina, G Adami","doi":"10.4081/reumatismo.2024.1687","DOIUrl":"10.4081/reumatismo.2024.1687","url":null,"abstract":"<p><p>In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome is described. The patient had elbow, pelvis, and lower limb pain and a hard mass in the hip and olecranon regions. Increased levels of inorganic phosphorus (Pi) and C-reactive protein were observed. After treating the patient with conventional drugs, we tested denosumab, which reduced but did not normalize the Pi.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 2","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-06-24DOI: 10.4081/reumatismo.2024.1611
C Iannone, M R Pellico, C Campochiaro, L Tescaro, M Zompatori, A Caminati, S Harari, R Caporali
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes. This case describes a 71-year-old male patient with VEXAS syndrome who presented with refractory lung inflammation with a pattern similar to computed tomography hypersensitivity pneumonitis, a novel finding in VEXAS syndrome. The presented clinical case highlights the protean involvement of the lung in VEXAS syndrome and emphasizes the importance of considering interstitial lung disease in the differential diagnosis.
{"title":"The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern.","authors":"C Iannone, M R Pellico, C Campochiaro, L Tescaro, M Zompatori, A Caminati, S Harari, R Caporali","doi":"10.4081/reumatismo.2024.1611","DOIUrl":"10.4081/reumatismo.2024.1611","url":null,"abstract":"<p><p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes. This case describes a 71-year-old male patient with VEXAS syndrome who presented with refractory lung inflammation with a pattern similar to computed tomography hypersensitivity pneumonitis, a novel finding in VEXAS syndrome. The presented clinical case highlights the protean involvement of the lung in VEXAS syndrome and emphasizes the importance of considering interstitial lung disease in the differential diagnosis.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 2","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-22DOI: 10.4081/reumatismo.2024.1547
L Cometi, P Francesconi, B Bellini, L Turco, F Voller, F Nacci, S Bellando-Randone, M Matucci-Cerinic, S Guiducci
Objective: In the last decades, the number of foreigners in Tuscany has considerably increased with a multiethnic distribution. We reviewed the main rheumatic diseases in the foreign population resident in Tuscany and also reported the experience at the Rheumatology Division of the University Hospital of Careggi, Florence, in order to identify the areas of origin of these patients and the main rheumatic diseases observed in them.
Methods: The collaboration with the Tuscan Region provided data about foreign patients residing in Tuscany on January 1, 2021 (country of origin, chronic diseases). Moreover, we conducted a retrospective review of the clinical charts of our Rheumatologic Division from January 1, 2019, to December 31, 2020.
Results: In Tuscany, on January 1, 2021, there were 61,373 patients with chronic inflammatory rheumatic diseases, and 3994 of them (6.51%) were foreigners. Most patients were born in Europe (39.03%), followed by the Balkans (15%), South America (11.27%), and North Africa (10.31%). Inflammatory joint diseases, Sjögren syndrome, and systemic lupus erythematosus were the most frequent diseases. In the period 2019-2020, 511 foreign patients visited our Rheumatology Division and mainly originated from the Balkans (34.64%), South America (18%), and European countries (16.44%). In these patients, chronic inflammatory joint diseases and connective tissue diseases (systemic sclerosis, Sjögren syndrome, and systemic lupus erythematosus) were the most prevalent diseases.
Conclusions: This study provides a picture of the rheumatic diseases affecting foreign patients residing in Tuscany that are in agreement with the epidemiological data previously provided.
{"title":"Rheumatic diseases in migrant patients resident in Tuscany: epidemiological data analysis and single-center experience.","authors":"L Cometi, P Francesconi, B Bellini, L Turco, F Voller, F Nacci, S Bellando-Randone, M Matucci-Cerinic, S Guiducci","doi":"10.4081/reumatismo.2024.1547","DOIUrl":"10.4081/reumatismo.2024.1547","url":null,"abstract":"<p><strong>Objective: </strong>In the last decades, the number of foreigners in Tuscany has considerably increased with a multiethnic distribution. We reviewed the main rheumatic diseases in the foreign population resident in Tuscany and also reported the experience at the Rheumatology Division of the University Hospital of Careggi, Florence, in order to identify the areas of origin of these patients and the main rheumatic diseases observed in them.</p><p><strong>Methods: </strong>The collaboration with the Tuscan Region provided data about foreign patients residing in Tuscany on January 1, 2021 (country of origin, chronic diseases). Moreover, we conducted a retrospective review of the clinical charts of our Rheumatologic Division from January 1, 2019, to December 31, 2020.</p><p><strong>Results: </strong>In Tuscany, on January 1, 2021, there were 61,373 patients with chronic inflammatory rheumatic diseases, and 3994 of them (6.51%) were foreigners. Most patients were born in Europe (39.03%), followed by the Balkans (15%), South America (11.27%), and North Africa (10.31%). Inflammatory joint diseases, Sjögren syndrome, and systemic lupus erythematosus were the most frequent diseases. In the period 2019-2020, 511 foreign patients visited our Rheumatology Division and mainly originated from the Balkans (34.64%), South America (18%), and European countries (16.44%). In these patients, chronic inflammatory joint diseases and connective tissue diseases (systemic sclerosis, Sjögren syndrome, and systemic lupus erythematosus) were the most prevalent diseases.</p><p><strong>Conclusions: </strong>This study provides a picture of the rheumatic diseases affecting foreign patients residing in Tuscany that are in agreement with the epidemiological data previously provided.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-22DOI: 10.4081/reumatismo.2024.1607
M Iacovantuono, S Ferrigno, P Conigliaro, P Triggianese, A D'Antonio, F R Spinelli, A Bergamini, M S Chimenti
Objective: A monocentric cross-sectional study recruiting rheumatoid arthritis (RA) and psoriatic arthritis (PsA) patients residing in the Lazio region, Italy, to assess factors related to diagnostic delay and treatment accessibility.
Methods: Clinical/serological data, including the time between symptom onset, diagnosis, and the beginning of treatment, were collected. Residence, referral to a rheumatologic center, physician who made the diagnosis, and previous misdiagnosis were also evaluated.
Results: A higher diagnostic delay (p=0.003), and time between symptom onset and the start of I-line therapy (p=0.006) were observed in PsA compared to RA. A delayed start of II-line therapy was observed in RA compared to PsA (p=0.0007). Higher diagnostic delay (p=0.02), and time between symptom onset and the start of conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) (p=0.02) were observed among residents of small-medium cities for both groups. Patients who have been diagnosed by another physician rather than a rheumatologist had a longer diagnostic delay (p=0.034) and a delayed start of I-line therapy (p=0.019). Patients who received a different previous diagnosis experienced greater diagnostic delay (p=0.03 and p=0.003) and time of start of csDMARDs (p=0.05 and p=0.01) compared with those receiving RA or PsA as the first diagnosis. PsA had a delay in starting targeted synthetic disease-modifying anti-rheumatic drugs (p=0.0004) compared to RA. Seronegative RA had delayed diagnosis (p=0.02) and beginning of therapies (p=0.03; p=0.04) compared to seropositive ones.
Conclusions: According to our results, greater diagnostic delay was found in PsA compared to RA, in patients living in small-medium cities, in those who did not receive the diagnosis from a rheumatologist, in those who were previously misdiagnosed, and in seronegative RA.
研究目的对居住在意大利拉齐奥大区的类风湿性关节炎(RA)和银屑病关节炎(PsA)患者进行单中心横断面研究,评估与诊断延迟和治疗可及性有关的因素:方法:收集临床/血清学数据,包括症状出现、诊断和开始治疗之间的时间间隔。此外,还对居住地、转诊至风湿病中心的情况、做出诊断的医生以及之前的误诊情况进行了评估:结果:与RA相比,PsA的诊断延迟(P=0.003)和症状出现与开始一线治疗之间的时间(P=0.006)更高。与PsA相比,RA的二线治疗开始时间推迟(p=0.0007)。在中小城市居民中,两组患者的诊断延迟时间(p=0.02)和症状出现与开始使用传统合成改善病情抗风湿药物(csDMARDs)之间的时间(p=0.02)均较长。由其他医生而非风湿免疫科医生诊断的患者诊断延迟时间更长(p=0.034),一线治疗开始时间也更晚(p=0.019)。与首次诊断为RA或PsA的患者相比,之前诊断为其他疾病的患者诊断延迟时间更长(p=0.03和p=0.003),开始使用csDMARDs的时间也更长(p=0.05和p=0.01)。与 RA 相比,PsA 开始使用靶向合成改善病情抗风湿药物的时间有所延迟(p=0.0004)。血清反应阴性的RA与血清反应阳性的RA相比,诊断时间(p=0.02)和治疗开始时间(p=0.03;p=0.04)均有所延迟:根据我们的研究结果,与RA相比,生活在中小城市的PsA患者、未接受风湿免疫科医生诊断的患者、曾被误诊的患者以及血清阴性RA患者的诊断延迟程度更高。
{"title":"Evaluation of diagnostic and therapeutic delay in patients with rheumatoid arthritis and psoriatic arthritis.","authors":"M Iacovantuono, S Ferrigno, P Conigliaro, P Triggianese, A D'Antonio, F R Spinelli, A Bergamini, M S Chimenti","doi":"10.4081/reumatismo.2024.1607","DOIUrl":"10.4081/reumatismo.2024.1607","url":null,"abstract":"<p><strong>Objective: </strong>A monocentric cross-sectional study recruiting rheumatoid arthritis (RA) and psoriatic arthritis (PsA) patients residing in the Lazio region, Italy, to assess factors related to diagnostic delay and treatment accessibility.</p><p><strong>Methods: </strong>Clinical/serological data, including the time between symptom onset, diagnosis, and the beginning of treatment, were collected. Residence, referral to a rheumatologic center, physician who made the diagnosis, and previous misdiagnosis were also evaluated.</p><p><strong>Results: </strong>A higher diagnostic delay (p=0.003), and time between symptom onset and the start of I-line therapy (p=0.006) were observed in PsA compared to RA. A delayed start of II-line therapy was observed in RA compared to PsA (p=0.0007). Higher diagnostic delay (p=0.02), and time between symptom onset and the start of conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) (p=0.02) were observed among residents of small-medium cities for both groups. Patients who have been diagnosed by another physician rather than a rheumatologist had a longer diagnostic delay (p=0.034) and a delayed start of I-line therapy (p=0.019). Patients who received a different previous diagnosis experienced greater diagnostic delay (p=0.03 and p=0.003) and time of start of csDMARDs (p=0.05 and p=0.01) compared with those receiving RA or PsA as the first diagnosis. PsA had a delay in starting targeted synthetic disease-modifying anti-rheumatic drugs (p=0.0004) compared to RA. Seronegative RA had delayed diagnosis (p=0.02) and beginning of therapies (p=0.03; p=0.04) compared to seropositive ones.</p><p><strong>Conclusions: </strong>According to our results, greater diagnostic delay was found in PsA compared to RA, in patients living in small-medium cities, in those who did not receive the diagnosis from a rheumatologist, in those who were previously misdiagnosed, and in seronegative RA.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-22DOI: 10.4081/reumatismo.2024.1621
M Ruggiero, A Conforti, A Culcasi, C Mazzanti, G Sibahi, N Rani, S Sartini
Objective: Melorheostosis is a rare, non-hereditary, benign bone disease characterized by abnormal bone growth. Generally, melorheostosis develops during childhood or adolescence and progresses gradually over time. This disease represents a true challenge to the physician because of its variability due to location, extension of the affected bone, and involvement of associated soft tissue. Pain management, physical therapy, and surgery may be recommended, depending on the individual case. This review aims to get an overview of the latest evidence relating to epidemiology, clinical and radiographic characteristics, diagnosis, and possible therapeutic strategies for melorheostosis and describe our experience through a clinical case.
Methods: We designed a comprehensive literature search on melorheostosis in MEDLINE (via Pubmed) up to April 2023 and reviewed reports published in international journals.
Results: The purpose is to highlight the importance of a multidisciplinary approach in the management of a rare disease such as melorheostosis. We discuss the role of different physicians, including genetists, rheumatologists, physiatrists, physical therapists, and orthopedic surgeons, in providing accurate diagnoses and effective treatments. We conducted a comprehensive review of the literature on the treatment of melorheostosis to support these findings. In addition, the article presents a case study of a patient suffering from melorheostosis, focusing on difficulties in reaching a correct diagnosis and attempts towards conservative and surgical interventions. The patient underwent hip arthroplasty, and the final result was an improvement in function and a reduction in pain.
Conclusions: Managing melorheostosis can be challenging, and there is no standardized treatment for this condition at the moment.
{"title":"A focus on melorheostosis disease: a literature review and case report of femoral-acetabular impingement due to melorheostosis treated with surgical hip osteoplasty.","authors":"M Ruggiero, A Conforti, A Culcasi, C Mazzanti, G Sibahi, N Rani, S Sartini","doi":"10.4081/reumatismo.2024.1621","DOIUrl":"10.4081/reumatismo.2024.1621","url":null,"abstract":"<p><strong>Objective: </strong>Melorheostosis is a rare, non-hereditary, benign bone disease characterized by abnormal bone growth. Generally, melorheostosis develops during childhood or adolescence and progresses gradually over time. This disease represents a true challenge to the physician because of its variability due to location, extension of the affected bone, and involvement of associated soft tissue. Pain management, physical therapy, and surgery may be recommended, depending on the individual case. This review aims to get an overview of the latest evidence relating to epidemiology, clinical and radiographic characteristics, diagnosis, and possible therapeutic strategies for melorheostosis and describe our experience through a clinical case.</p><p><strong>Methods: </strong>We designed a comprehensive literature search on melorheostosis in MEDLINE (via Pubmed) up to April 2023 and reviewed reports published in international journals.</p><p><strong>Results: </strong>The purpose is to highlight the importance of a multidisciplinary approach in the management of a rare disease such as melorheostosis. We discuss the role of different physicians, including genetists, rheumatologists, physiatrists, physical therapists, and orthopedic surgeons, in providing accurate diagnoses and effective treatments. We conducted a comprehensive review of the literature on the treatment of melorheostosis to support these findings. In addition, the article presents a case study of a patient suffering from melorheostosis, focusing on difficulties in reaching a correct diagnosis and attempts towards conservative and surgical interventions. The patient underwent hip arthroplasty, and the final result was an improvement in function and a reduction in pain.</p><p><strong>Conclusions: </strong>Managing melorheostosis can be challenging, and there is no standardized treatment for this condition at the moment.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-22DOI: 10.4081/reumatismo.2024.1632
A Fassio, G Porciello, G Carioli, E Palumbo, S Vitale, A Luongo, C Montagnese, M Prete, M Grimaldi, R Pica, E Rotondo, L Falzone, I Calabrese, A Minopoli, B Grilli, M Cuomo, P C Fiorillo, C Evangelista, E Cavalcanti, M De Laurentiis, D Cianniello, C Pacilio, M Pinto, G Thomas, M Rinaldo, M D'Aiuto, D Serraino, S Massarut, A Steffan, F Ferraù, R Rossello, F Messina, F Catalano, G Adami, F Bertoldo, M Libra, A Crispo, E Celentano, C La Vecchia, L S A Augustin, D Gatti
Objective: To report cross-sectionally serum levels of 25-hydroxyvitamin D [25(OH)D] in women living in Italy within 12 months from breast cancer (BC) diagnosis.
Methods: Baseline data were obtained from 394 women diagnosed with primary BC, enrolled from 2016 to 2019 in a lifestyle trial conducted in Italy. Subjects' characteristics were compared between two 25(OH)D concentrations (hypovitaminosis D<20 and ≥20 ng/mL) with the Chi-squared test or Fisher's exact test for small-expected counts. Using multiple logistic regression-adjusted models, we estimated odds ratios (ORs) of hypovitaminosis D with 95% confidence intervals (CIs) in the total sample and in the unsupplemented subgroup.
Results: Hypovitaminosis D was found in 39% of all subjects, 60% in unsupplemented subjects, and 10% in supplemented subjects. Increasing ORs of hypovitaminosis D were found with increasing body mass index, 25-30, >30, and ≥35 versus <25 kg/m2 (ORs: 2.50, 4.64, and 5.81, respectively, in the total cohort and ORs: 2.68, 5.38, and 7.08 in the unsupplemented); living in the most southern Italian region (OR 2.50, 95%CI 1.22-5.13); and with hypertriglyceridemia (OR 2.46; 95%CI 1.16-5.22), chemotherapy history (OR 1.86, 95%CI 1.03-3.38), and inversely with anti-estrogenic therapy (OR 0.43, 95%CI 0.24-0.75) in the total sample.
Conclusions: Hypovitaminosis D in women recently diagnosed with BC and participating in a lifestyle trial in Italy was widespread and highest with obesity, hypertriglyceridemia, and chemotherapy use. Considering that hypovitaminosis D is a risk factor for lower efficacy of bone density treatments and possibly BC mortality, our results suggest the need to promptly address and treat vitamin D deficiency.
目的横向报告居住在意大利的女性在确诊乳腺癌(BC)后12个月内的25-羟基维生素D [25(OH)D]血清水平:基线数据来自394名确诊为原发性乳腺癌的女性,她们于2016年至2019年参加了在意大利进行的一项生活方式试验。对两种25(OH)D浓度(维生素D过低)的受试者特征进行了比较:所有受试者中有 39% 发现维生素 D 过低,未补充维生素 D 的受试者中有 60%,补充维生素 D 的受试者中有 10%。随着体重指数(25-30、>30 和≥35)的增加,维生素 D 过低的 OR 值也随之增加:在意大利,最近被诊断出患有乳腺癌并参加了生活方式试验的女性中,维生素 D 过低的情况很普遍,而且肥胖、高甘油三酯血症和化疗使用率最高。考虑到维生素 D 不足是降低骨密度治疗效果的风险因素,并可能导致 BC 死亡率,我们的研究结果表明有必要及时处理和治疗维生素 D 缺乏症。
{"title":"Post-diagnosis serum 25-hydroxyvitamin D concentrations in women treated for breast cancer participating in a lifestyle trial in Italy.","authors":"A Fassio, G Porciello, G Carioli, E Palumbo, S Vitale, A Luongo, C Montagnese, M Prete, M Grimaldi, R Pica, E Rotondo, L Falzone, I Calabrese, A Minopoli, B Grilli, M Cuomo, P C Fiorillo, C Evangelista, E Cavalcanti, M De Laurentiis, D Cianniello, C Pacilio, M Pinto, G Thomas, M Rinaldo, M D'Aiuto, D Serraino, S Massarut, A Steffan, F Ferraù, R Rossello, F Messina, F Catalano, G Adami, F Bertoldo, M Libra, A Crispo, E Celentano, C La Vecchia, L S A Augustin, D Gatti","doi":"10.4081/reumatismo.2024.1632","DOIUrl":"10.4081/reumatismo.2024.1632","url":null,"abstract":"<p><strong>Objective: </strong>To report cross-sectionally serum levels of 25-hydroxyvitamin D [25(OH)D] in women living in Italy within 12 months from breast cancer (BC) diagnosis.</p><p><strong>Methods: </strong>Baseline data were obtained from 394 women diagnosed with primary BC, enrolled from 2016 to 2019 in a lifestyle trial conducted in Italy. Subjects' characteristics were compared between two 25(OH)D concentrations (hypovitaminosis D<20 and ≥20 ng/mL) with the Chi-squared test or Fisher's exact test for small-expected counts. Using multiple logistic regression-adjusted models, we estimated odds ratios (ORs) of hypovitaminosis D with 95% confidence intervals (CIs) in the total sample and in the unsupplemented subgroup.</p><p><strong>Results: </strong>Hypovitaminosis D was found in 39% of all subjects, 60% in unsupplemented subjects, and 10% in supplemented subjects. Increasing ORs of hypovitaminosis D were found with increasing body mass index, 25-30, >30, and ≥35 versus <25 kg/m2 (ORs: 2.50, 4.64, and 5.81, respectively, in the total cohort and ORs: 2.68, 5.38, and 7.08 in the unsupplemented); living in the most southern Italian region (OR 2.50, 95%CI 1.22-5.13); and with hypertriglyceridemia (OR 2.46; 95%CI 1.16-5.22), chemotherapy history (OR 1.86, 95%CI 1.03-3.38), and inversely with anti-estrogenic therapy (OR 0.43, 95%CI 0.24-0.75) in the total sample.</p><p><strong>Conclusions: </strong>Hypovitaminosis D in women recently diagnosed with BC and participating in a lifestyle trial in Italy was widespread and highest with obesity, hypertriglyceridemia, and chemotherapy use. Considering that hypovitaminosis D is a risk factor for lower efficacy of bone density treatments and possibly BC mortality, our results suggest the need to promptly address and treat vitamin D deficiency.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-22DOI: 10.4081/reumatismo.2024.1642
S Gülle, A Çelik, M Birlik, O Yılmaz
Objective: Scleroderma, or systemic sclerosis (SSc), is a chronic autoimmune connective disease with an unknown etiology and poorly understood pathogenesis. The striking array of autoimmune, vascular, and fibrotic changes that develop in almost all patients makes SSc unique among connective tissue diseases. Although no animal model developed for SSc to date fully represents all features of human disease, some animal models that demonstrate features of SSc may help to better understand the pathogenesis of the disease and to develop new therapeutic options. In this review, we aimed to evaluate skin fibrosis and lung involvement in a bleomycin (BLM)-induced mouse model and to evaluate the differences between studies.
Methods: A systematic literature review (PRISMA guideline) on PubMed and EMBASE (until May 2023, without limits) was performed. A primary literature search was conducted using the PubMed and EMBASE databases for all articles published from 1990 to May 2023. Review articles, human studies, and non-dermatological studies were excluded. Of the 38 non-duplicated studies, 20 articles were included.
Results: Among inducible animal models, the BLM-induced SSc is still the most widely used. In recent years, the measurement of tissue thickness between the epidermal-dermal junction and the dermal-adipose tissue junction (dermal layer) has become more widely accepted.
Conclusions: In animal studies, it is important to simultaneously evaluate lung tissues in addition to skin fibrosis induced in mice by subcutaneous BLM application, following the 3R (replacement, reduction, and refinement) principle to avoid cruelty to animals.
{"title":"Skin and lung fibrosis induced by bleomycin in mice: a systematic review.","authors":"S Gülle, A Çelik, M Birlik, O Yılmaz","doi":"10.4081/reumatismo.2024.1642","DOIUrl":"10.4081/reumatismo.2024.1642","url":null,"abstract":"<p><strong>Objective: </strong>Scleroderma, or systemic sclerosis (SSc), is a chronic autoimmune connective disease with an unknown etiology and poorly understood pathogenesis. The striking array of autoimmune, vascular, and fibrotic changes that develop in almost all patients makes SSc unique among connective tissue diseases. Although no animal model developed for SSc to date fully represents all features of human disease, some animal models that demonstrate features of SSc may help to better understand the pathogenesis of the disease and to develop new therapeutic options. In this review, we aimed to evaluate skin fibrosis and lung involvement in a bleomycin (BLM)-induced mouse model and to evaluate the differences between studies.</p><p><strong>Methods: </strong>A systematic literature review (PRISMA guideline) on PubMed and EMBASE (until May 2023, without limits) was performed. A primary literature search was conducted using the PubMed and EMBASE databases for all articles published from 1990 to May 2023. Review articles, human studies, and non-dermatological studies were excluded. Of the 38 non-duplicated studies, 20 articles were included.</p><p><strong>Results: </strong>Among inducible animal models, the BLM-induced SSc is still the most widely used. In recent years, the measurement of tissue thickness between the epidermal-dermal junction and the dermal-adipose tissue junction (dermal layer) has become more widely accepted.</p><p><strong>Conclusions: </strong>In animal studies, it is important to simultaneously evaluate lung tissues in addition to skin fibrosis induced in mice by subcutaneous BLM application, following the 3R (replacement, reduction, and refinement) principle to avoid cruelty to animals.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-22DOI: 10.4081/reumatismo.2024.1641
A R De Santana, M D L Castro de Oliveira Figueirôa, A L Souza Pedreira, G L Behrens Pinto, M B Santiago
Adult-onset xanthogranuloma (AOX) and immunoglobulin G4-related disease (IgG4-RD) are uncommon fibrosing conditions that may exhibit localized ocular manifestations and occasionally systemic symptoms. These conditions exhibit overlapping clinical and histological features, suggesting a potential correlation between them, although their exact relationship remains unclear. This paper presents the case of a black male patient exhibiting typical histological indications of both AOX and IgG4-RD. The patient responded positively to corticosteroid treatment.
{"title":"Adult ocular adnexal xanthogranulomatous disease associated with immunoglobulin G4-related disease: an unusual association.","authors":"A R De Santana, M D L Castro de Oliveira Figueirôa, A L Souza Pedreira, G L Behrens Pinto, M B Santiago","doi":"10.4081/reumatismo.2024.1641","DOIUrl":"10.4081/reumatismo.2024.1641","url":null,"abstract":"<p><p>Adult-onset xanthogranuloma (AOX) and immunoglobulin G4-related disease (IgG4-RD) are uncommon fibrosing conditions that may exhibit localized ocular manifestations and occasionally systemic symptoms. These conditions exhibit overlapping clinical and histological features, suggesting a potential correlation between them, although their exact relationship remains unclear. This paper presents the case of a black male patient exhibiting typical histological indications of both AOX and IgG4-RD. The patient responded positively to corticosteroid treatment.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-22DOI: 10.4081/reumatismo.2024.1673
C Manzo, M Isetta, A Castagna
The first description of polymyalgia rheumatica (PMR) is generally attributed to Dr. Bruce. In an 1888 article entitled Senile rheumatic gout, he described five male patients aged from 60 to 74 years whom he had visited at the Strathpeffer spa in Scotland. In 1945, Dr. Holst and Dr. Johansen reported on five female patients examined over several months at the Medical Department of Roskilde County Hospital in Denmark. These patients suffered from hip, upper arms, and neck pain associated with elevated ESR and constitutional manifestations such as low-grade fever or loss of weight. In the same year, Meulengracht, another Danish physician, reported on two patients with shoulder pain and stiffness associated with fever, weight loss, and an increased erythrocyte sedimentation rate. As in the five patients reported by Dr. Holst and Dr. Johansen, a prolonged recovery time was recorded. On reading and comparing these three accounts, we question whether it is correct to attribute the first description of PMR to Dr. Bruce and put forward shifting this accolade to the three Danish physicians.
{"title":"Did the first description of patients with polymyalgia rheumatica take place in Scotland or in Denmark?","authors":"C Manzo, M Isetta, A Castagna","doi":"10.4081/reumatismo.2024.1673","DOIUrl":"10.4081/reumatismo.2024.1673","url":null,"abstract":"<p><p>The first description of polymyalgia rheumatica (PMR) is generally attributed to Dr. Bruce. In an 1888 article entitled Senile rheumatic gout, he described five male patients aged from 60 to 74 years whom he had visited at the Strathpeffer spa in Scotland. In 1945, Dr. Holst and Dr. Johansen reported on five female patients examined over several months at the Medical Department of Roskilde County Hospital in Denmark. These patients suffered from hip, upper arms, and neck pain associated with elevated ESR and constitutional manifestations such as low-grade fever or loss of weight. In the same year, Meulengracht, another Danish physician, reported on two patients with shoulder pain and stiffness associated with fever, weight loss, and an increased erythrocyte sedimentation rate. As in the five patients reported by Dr. Holst and Dr. Johansen, a prolonged recovery time was recorded. On reading and comparing these three accounts, we question whether it is correct to attribute the first description of PMR to Dr. Bruce and put forward shifting this accolade to the three Danish physicians.</p>","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"76 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}