Systemic Connective Tissue Disorder Research Articles

Systemic manifestations of connective tissue abnormalities in patients with Mitral Valve Prolapse assessed by Cardiac Magnetic Resonance

Abstract Background Mitral valve prolapse (MVP) reflects a connective tissue abnormality of the mitral leaflets leading to myxomatous degeneration. Early echocardiography and semeiotic assessment investigations suggested that connective tissue abnormalities might be extended to heart chambers, great vessels, and the skeletal system. Cardiac Magnetic Resonance (CMR) has unique potentials in evaluating MVP, cardiac chambers, aortic dimensions, and Haller Index, an expression of the deformity of the thoracic cage, at one time. Purpose We aimed to investigate the potential phenotypic systemic expressions of connective tissue disease in patients with MVP by CMR assessment. Methods This case-control study included consecutive patients with MVP and a control group of healthy volunteers undergoing CMR at our Institution from September 2020 to November 2023. Patients with more than mild mitral or aortic regurgitation, bicuspid aortic valve, or known systemic connective diseases were excluded. The MVP, cardiac chambers, aortic dimensions, and Haller Index were assessed according to standard practice. Results 103 patients with MVP and 57 healthy volunteers (51± 17 vs. 47±18 years, p=0.2, and 5% females vs. 54.4% females, p=0.8, respectively) were enrolled. Patients with MVP showed greater left ventricular end-diastolic (91±25 vs. 78±17 ml/m2; p=0.005) and end-systolic volumes (36±12 vs. 27±6; ml/m2; p<0.001), aortic annulus (13±2 vs. 12±2 mm/m2; p<0.001), sino-tubular junction (15±3 vs. 14±3 mm/m2; p=0.03), aortic root (19±3 vs. 17±3 mm/m2; p<0.001), and descending aorta (13±2 vs. 12±2 mm/m2; p=0.03), and higher Haller Index (2.8±0.6 vs. 2.6±0.4; p=0.02) than healthy controls. No differences were found in ascending aorta (18±3 vs. 17±3 mm/m2; p=0.3), pulmonary trunk (13±2 vs. 13±2 mm/m2; p=0.5), left atrial volume (38±18 vs. 30±15 ml/m2; p=0.20), right ventricular end-diastolic-volume (86±20 vs. 81±20 ml/m2; p=0.3) were found. At ANCOVA, sex and MVP affected the Haller Index values (p = 0.005 and 0.04). The association between MVP and Haller Index persisted after controlling for sex, age, and body surface area. In multivariate regression analysis, MVP and sex had an independent impact on ventricular and aortic dimensions, with MVP and male patients showing greater values. In particular, MVP was associated with an increase in the aortic annulus (Coefficient=1.2; p< 0.001), aortic root (Coefficient=1.5, p=0.001), descending aorta (Coefficient=0.7, p = 0.026), left ventricular end-diastolic-volume (Coefficient=11.1, p=0.01) and mass (Coefficient=5.7, p=0.02) after controlling for sex, age, and body surface area. Conclusions This pivotal study assessing systemic connective tissue disorders by CMR suggests abnormalities in the aorta and the skeletal system of patients with MVP, paving the way to larger investigations exploring the clinical impact of these findings.CMR findings in the study populationBox plots showing variables distribution

A Concise Review of Marfan Syndrome with a Congenital Cardiac Surgery Focus.

Marfan syndrome is named after Antoine Marfan, who described a 5-year-old child with congenital elongation of the digits and other skeletal abnormalities in 1896. While Marfan syndrome is a systemic connective tissue disorder predominantly involving the skeletal, cardiovascular, and ocular systems, the cardiovascular system presents the most life-threatening complications. Most cardiovascular pathologies surround the left ventricular outflow tract and aorta, with aortic dissection requiring emergent surgical management to the progression of mitral regurgitation requiring elective surgery. Intensive care management, along with a tailored approach to the surgical management of a patient with Marfan syndrome, is critical to their survival. Current surgical operations for patients include aortic root surgery, valve-sparing root replacements, aortic root replacements with conduits, and mitral valve repairs. Further research is necessary to determine the molecular, endovascular, pharmaceutical, and surgical management of Marfan syndrome. This review attempts to concisely discuss the diagnosis, complications, and medical and intensive care management of Marfan syndrome while further divulging on the surgical management of those with this disease process.

Therapy for Dupuytren’s Disease: Collagenase Therapy—A Long-Term Follow-Up Study

Background: Dupuytren’s disease (DD) is a systemic connective tissue disorder of the palm. It particularly affects men of Northern European or Caucasian origin over the age of 55. In addition to the classical surgical therapy via limited fasciectomy, Dupuytren’s contracture can also be treated minimally invasively. A relatively new treatment method is the use of collagenase injections (Xiapex) to reduce the contracture of the fingers. The data regarding the long-term success of this therapy are currently limited. Methods: In this monocentric retrospective study, we examined 35 patients who were treated with collagenase (Xiapex) for Dupuytren’s contracture in the long fingers. Following the manufacturer’s recommendations, the injection was administered intralesionally, and the cord was ruptured through the passive extension of the finger under local anesthesia with Mepivacain the following day. The clinical follow-up examination was conducted after an average of 5.7 years. The stages of Dupuytren’s disease were documented using the Tubiana classification. Additionally, parameters of finger extension ability, differentiated by metacarpophalangeal (MCP), and proximal interphalangeal (PIP) joints, as well as patient-specific risk parameters, were evaluated Results: The long-term results of collagenase therapy after an average of 5.7 years showed a significant improvement in the contracture of the affected fingers. In the MCP joints, the flexion contracture decreased from 42° to 17° (p ≤ 0.001), and in the PIP joints, it decreased from 56° to 33° (p ≤ 0.001). The primary recurrence rate was 11% for the MCP joints and 19% for the PIP joints, respectively. The analysis of risk factors showed a significant risk for worse long-term outcomes in patients with diabetes and those with nicotine abuse. Conclusions: Collagenase therapy for Dupuytren’s disease achieved significant long-term improvements in contracture in both MCP and PIP joints. In accordance with general risk factors for DD, patients with diabetes and those with nicotine abuse are at risk of worse long-term outcomes. Overall, it is a time-saving, low-risk, and straightforward technique for treating the disabling contracture component of this disease.

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome.

Marfan syndrome (MFS) is a complex genetic systemic connective tissue disorder. It is well known that genetic factors play a critical role in the progression of MFS, with nearly all cases attributed to variants in the FBN1 gene. We investigated a Chinese family with MFS spanning two generations. Whole exome sequencing, in silico analysis, minigene constructs, transfection, RT-PCR, and protein secondary structure analysis were used to analyze the genotype of the proband and his father. The main clinical manifestations of the proband and his father were subluxation of the left lens and high myopia with pectus deformity. Whole exome sequencing identified a novel single nucleotide variant (SNV) in the FBN1 gene at a non-canonical splice site, c.443-3C>G. This variant resulted in two abnormal mRNA transcripts, leading to a frameshift and an in-frame insertion. Further invitro experiments indicated that the c.443-3C>G variant in FBN1 was pathogenic and functionally harmful. This research identified a novel intronic pathogenic FBN1: c.443-3C>G gene variant, which led to two different aberrant splicing effects. Further functional analysis expands the variant spectrum and provides a strong indication and sufficient basis for preimplantation genetic testing for monogenic disease (PGT-M).

Rheumatic and Musculoskeletal Diseases and Risk of Dementia: A Nested Case-Control Study.

To investigate the associations between rheumatic and musculoskeletal diseases (RMDs) and incident dementia using population register-based data. This nested case-control study was conducted based on a cohort of residents in the Skåne region, Sweden, aged 50 years and older in 2009 without doctor-diagnosed dementia during 1998 to 2009 (n = 402,825). Individuals with a new main diagnosis of dementia during 2010 to 2019 were identified as incident patients with dementia (n = 22,131). Controls without diagnosed dementia were randomly matched 1:1 by sex, age, and Elixhauser comorbidity index using incidence density sampling. Separate conditional logistic regression analyses adjusted for confounders were fitted for the following RMDs, diagnosed at least 2 years before dementia diagnosis as exposure: gout, osteoarthritis, rheumatoid arthritis, spondyloarthropathies (SpA), and systemic connective tissue disorders. Subgroup analyses by dementia subtype, sex, age, comorbidity, and RMDs/dementia identification were conducted. Although gout (adjusted rate ratio 0.88; 95% confidence interval 0.79-0.97), osteoarthritis (0.92; 0.88-0.96), and systemic connective tissue disorders (0.91; 0.83-0.99) were associated with decreased risk of dementia, the associations for rheumatoid arthritis (1.05; 0.92-1.19) and SpA (1.17; 0.94-1.45) were inconclusive. The associations between RMDs and incident dementia were similar across sex, age, and comorbidity subgroups with a few exceptions (eg, an adjusted rate ratio of 0.99 [95% confidence interval 0.71-1.39] in males vs 1.31 [0.99-1.74] in female patients for SpA). Persons with diagnosed RMDs seem to have comparable or slightly lower risks of developing dementia compared with those without known RMD.

A Comprehensive Review of Ocular Manifestations in Systemic Diseases.

Ocular manifestations often serve as critical indicators of underlying systemic diseases, providing valuable diagnostic and prognostic information. This comprehensive review aims to elucidate the complex interplay between ocular symptoms and systemic conditions, emphasising the importance of early recognition and interdisciplinary collaboration in patient management. The review encompasses various systemic diseases, including cardiovascular, autoimmune, infectious, neurological, endocrine, hematologic, genetic, dermatologic, gastrointestinal, hepatic, renal, and connective tissue disorders, highlighting their specific ocular manifestations. Diagnostic approaches, including ophthalmologic examination techniques, imaging modalities, and laboratory tests, are discussed to enhance diagnostic accuracy. Furthermore, the review outlines current management and treatment strategies, emphasising the need for a multidisciplinary approach to care. Emerging therapies and future research directions are also explored, underscoring the necessity of continued innovation in this field. This review aims to improve clinical practices, promote integrative healthcare, and ultimately enhance patient outcomes by providing a detailed overview of ocular manifestations in systemic diseases.

Clinical Characteristics and Outcomes of Disseminated Strongyloidiasis in the United States-A Multicenter Network Analysis.

Human strongyloidiasis is a potentially life-threatening parasitic disease among immunocompromised hosts. We aim to determine the factors and mortality associated with disseminated strongyloidiasis. We conducted a U.S.-based multicenter retrospective cohort study to determine 90-day clinical outcomes for people diagnosed with Strongyloides infection in the TriNetX patient database. We identified adult patients with the International Classification of Diseases (10th revision, clinical modification) code for Strongyloides infection (B78) or a positive Strongyloides IgG antibody test and captured outcomes at 90 days. We identified 5,434 patients with strongyloidiasis, of whom 48 had disseminated strongyloidiasis for 0.9% prevalence of disseminated disease. Systemic connective tissue disorders, pulmonary eosinophilia, liver cirrhosis, blood disorders (monoclonal gammopathy, aplastic anemia, and lymphoid malignancy), malnutrition, alcohol use disorder, and transplantation status were frequent in patients with disseminated disease. Mortality was significantly higher in people with disseminated disease at 30 days (21%). The 90-day risk of hospitalization, bacteremia, and acute respiratory distress syndrome (ARDS) was higher in those with disseminated infection. People with disseminated strongyloidiasis had a heightened risk of hospitalization, bacteremia, acute respiratory distress syndrome, and mortality. The population at risk for severe strongyloidiasis infection is evolving, reflecting conditions in which glucocorticoids or additional immunosuppressive medications are commonly used for treatment.

In Search of Mouse Models for Exfoliation Syndrome

Exfoliation syndrome (XFS) is a systemic connective tissue disorder with elusive pathophysiology. We hypothesize that a mouse model with elastic fiber defects caused by lack of lysyl oxidase like 1 (LOXL1 encoded by Loxl1), combined with microfibril deficiency due to Fbn1 mutation (encoding fibrillin-1, Fbn1C1041G/+) will display ocular and systemic phenotypes of XFS. Loxl1-/- was crossed with Fbn1C1041G/+ to create double mutant (dbm) mice. Intraocular pressure (IOP), visual acuity (VA), electroretinogram (ERG) and biometry were characterized in 4 genotypes (wt, Fbn1C1041G/+, Loxl1-/-, dbm) at 16 weeks old. Optic nerve area was measured by ImageJ and axon counting was achieved by AxonJ. Deep whole-body phenotyping was performed in wt and dbm mice. Two-tailed Student's t-test was used for statistical analysis. There was no difference in IOP between the 4 genotypes. VA was significantly reduced only in dbm mice. The majority of biometric parameters showed significant differences in all 3 mutant genotypes compared to wt, and dbm had exacerbated anomalies compared to single mutants. Dbm mice showed reduced retinal function and significantly enlarged ON area when compared with wt. Dbm mice exhibited severe systemic phenotypes related to abnormal elastic fibers, such as pelvic organ prolapse, cardiovascular and pulmonary abnormalities. Ocular and systemic findings in dbm mice support functional overlap between fibrillin-1 and LOXL1, two prominent components of exfoliation material. Although no elevated IOP or reduction of axon numbers was detected in dbm mice at 16-week-old, their reduced retinal function and enlarged ON area indicate early retinal ganglion cell dysfunction. Dbm mice also provide insight on the link between XFS and systemic diseases in humans.

Increased Rate of Complications Following Total Knee Arthroplasty in Patients Who Have Polymyositis

BackgroundPolymyositis (PM) is a systemic connective tissue disorder that can lead to early onset degenerative joint disease and a need for total knee arthroplasty (TKA). Outcomes of TKA in patients who have PM are not well documented in the literature. The purpose of this study was to evaluate PM as a risk factor for complications after TKA. MethodsUsing a national private payer insurance database from 2010 to 2022, PM patients undergoing primary TKA were compared to 10:1 matched controls based on age, sex, and comorbidities. Multivariable logistic regression analyses were done for medical complications up to 90 days and surgical complications up to 2 years. 90-day emergency department visits and inpatient readmissions were also documented. A total of 25,039 patients undergoing primary TKA were queried, of which 2,290 had PM. ResultsCompared to the matched controls, patients who had PM demonstrated higher rates of medical and surgical complications, including pulmonary embolism (1.0% versus 0.5%, P = .001), cerebrovascular accident (1.3% versus 0.7%, P = .002), wound complications (3.4% versus 2.1%, P < .001), and periprosthetic joint infection at 1 year (1.7% versus 1.3%, P = .042) and 2 years (2.6% versus 1.9%, P = .006). Patients who had PM displayed elevated 90-day emergency department (14.9% versus 13.3%, P = .032) and hospital readmission rate (7.1% versus 4.8%, P < .001). ConclusionsPatients who have PM are at higher risks of postoperative medical and surgical complications, including pulmonary embolism, cerebrovascular accident, wound complication, and periprosthetic joint infection. Given these results, it is helpful for orthopedic surgeons and patients to consider these risks when considering TKA for patients who have PM.

Determinatori kliničkih ishoda kod obolelih od hroničnih artritisa i sistemskih bolesti vezivnog tkiva - fokus pandemija COVID-19

Introduction. Early diagnosis and treatment improve clinical outcomes, especially in chronic arthritis (CA) and systemic connective tissue disorders (SCTD). Thanks to clinical research from the 1990s on and innovative drugs, 55 million life-years have been saved. The COVID-19 pandemic brought on medical challenges in rheumathology. Objective. The study objective was to research early diagnosis, time of the introduction of innovative therapy, participation in clinical research, influence of gender, age, and corticosteroid treatment on hospitalization rate due to COVID-19 infection in CA and SCTD patients. Method. In November 2022 we performed the crosssectional study in CA and/or SCTD patients using an online questionnaire. The first part of the analyzed questions referred to sociodemographic characteristics and data concerning rheumatic disease - rheumatoid arthritis (RA) and other rheumatic diseases. The second part referred to COVID-19. Data were analyzed by descriptive statistics and Pearson's Chi-square test using SPSS 29. Results. Out of the total of 176 participants, RA was present in 60,8%. The time from the symptom onset to diagnosis was longer than two years. RA was more frequently diagnosed in the first six months (p &lt; 0,05 - males). The innovative therapy was used by 59,7% of the participants. The majority of RA patients got innovative therapy after five years from disease onset, which is later than in other CAs (p &lt; 0,05 - females). There were 23,3% of the participants who took part in clinical research, more those with RA (p &lt; 0,05 - females). Corticosteroid therapy influenced a higher rate of hospitalization during COVID-19 infection (p &lt; 0,05 - females). Conclusion. Males suffering from RA were diagnosed sooner, while females with RA participated more in clinical research but were later introduced to innovative therapy. The use of glucocorticoid therapy in the treatment of CA and SCTD increased the risk of hospitalization due to COVID-19 infection.

Pneumatosis cystoides intestinalis: a case report and literature review

Pneumatosis cystoides was first described by Du Vernay in 1783. This is a fairly rare disease with nonspecific symptoms and CT data on pneumoperitoneum. The authors present pneumatosis intestinalis in a patient with systemic connective tissue disorder. Free gas in abdominal cavity and dilated intestinal loops were an indication for emergency surgery with subsequent resection of intestine due to signs of ischemic damage. A review of clinical cases allows us to conclude that pneumoperitoneum requires careful differential diagnosis. Free gas in abdominal cavity in patients with cystic pneumatosis is an indication for emergency surgery only in case of complicated course of disease.

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.

Marfan syndrome (MFS), caused by pathogenic variants of FBN1 (fibrillin-1), is a systemic connective tissue disorder with variable phenotypes and treatment responsiveness depending on the variant. However, a significant number of individuals with MFS remain genetically unexplained. In this study, we report novel pathogenic intronic variants in FBN1 in two unrelated families with MFS. We evaluated subjects with suspected MFS from two unrelated families using Sanger sequencing or multiplex ligation-dependent probe amplification of FBN1 and/or panel-based next-generation sequencing. As no pathogenic variants were identified, whole-genome sequencing was performed. Identified variants were analyzed by reverse transcription-PCR and targeted sequencing of FBN1 mRNA harvested from peripheral blood or skin fibroblasts obtained from affected probands. We found causative deep intronic variants, c.6163+1484A>T and c.5788+36C>A, in FBN1. The splicing analysis revealed an insertion of in-frame or out-of-frame intronic sequences of the FBN1 transcript predicted to alter function of calcium-binding epidermal growth factor protein domain. Family members carrying c.6163+1484A>T had high systemic scores including prominent skeletal features and aortic dissection with lesser aortic dilatation. Family members carrying c.5788+36C>A had more severe aortic root dilatation without aortic dissection. Both families had ectopia lentis. Variable penetrance of the phenotype and negative genetic testing in MFS families should raise the possibility of deep intronic FBN1 variants and the need for additional molecular studies. This study expands the mutation spectrum of FBN1 and points out the importance of intronic sequence analysis and the need for integrative functional studies in MFS diagnosis.

Ocular involvement in rheumatic diseases.

Rheumatic diseases are associated with a significant decline in quality of life, which is not only related to the progression of the underlying disease but also to the development of coexisting conditions. One of the possible complications in this group of diseases is ocular involvement. Impaired vision is strongly associated with a significant decline in quality of life and can also exacerbate problems related to physical functioning. Consequently, it can lead to serious complications in the treatment of the underlying disease. Additionally, from a clinical point of view, it is also important to note that ocular diseases may precede the occurrence of inflammatory joint and spinal diseases, as well as organ involvement in systemic connective tissue disorders. Therefore, paying attention to ocular symptoms can help in early diagnosis and thus improve patient prognosis. For the aforementioned reasons, ocular diseases should be carefully considered in routine rheumatologic practice.

A Case of Systemic Connective Tissue Disorder in a Pazyryk Male from the Altai Mountains

We present the results of an anthropological and paleopathological study of a male skeleton from a Pazyryk kurgan 1 burial 1 at Ak-Alakha-1, the Altai Mountains. The archaeological context testifi es to a rather high social status of this person. His appearance was modeled using a modern facial reconstruction method. The combination of craniometric and anthropometric traits indicates a brachycranic Caucasoid type, which predominated in the male population of the Volga-Ural region and Western Kazakhstan in 600–200 BC. The individual suffered from a systemic disorder of the connective tissue affecting virtually all parts of the skeleton. The case is unique, and the condition is diagnosed as DISH—diffuse idiopathic skeletal hyperostosis, possibly caused by grave metabolic and endocrine disorders. Judging by his physical type, the male was not native to the Altai Mountains and belonged to a population that was not genetically adapted to that region. This may account for the severity of the rheumatoid disorder, which was aggravated by 4th degree osteoporosis of lumbar vertebrae and pelvic bones and by traumatic lesions of the shoulder girdle.

The Role of Sclerostin in Rheumatic Diseases: A Review.

Systemic connective tissue disorders constitute a heterogenous group of autoimmune diseases with the potential to affect a range of organs. Rheumatoid arthritis (RA) is a chronic, progressive, autoimmune inflammatory disease affecting the joints. Systemic lupus erythematosus (SLE) may manifest with multiple system involvement as a result of inflammatory response to autoantibodies. Spondyloarthropathies (SpAs) such as ankylosing spondylitis (AS) or psoriatic arthritis (PsA) are diseases characterised by the inflammation of spinal joints, paraspinal tissues, peripheral joints and enthesitis as well as inflammatory changes in many other systems and organs. Physiologically, sclerostin helps to maintain balance in bone tissue metabolism through the Wnt/β-catenin pathway, which represents a major intracellular signalling pathway. This review article aims to present the current knowledge on the role of sclerostin in the Wnt/β-catenin pathway and its correlation with clinical data from RA, SLE, AS and PsA patients.

Nail Whispers Revealing Dermatological and Systemic Secrets: An Analysis of Nail Disorders Associated With Diverse Dermatological and Systemic Conditions.

Background and objective Nail disorders encompass a wide spectrum of conditions, spanning congenital, developmental, infectious, neoplastic, degenerative, dermatological, and systemic diseases. A comprehensive exploration of their clinical manifestations, incidence, and associations is crucial for precise diagnosis and effective management. Methods This observational cross-sectionalstudyconducted atB.J. Medical College and Civil Hospital,Ahmedabad involved 300 consecutive patients with nail changesfrom July 2017 to June 2019 reporting diverse dermatological and systemic conditions. The inclusion criteria involved patients of both genders and all age groups displaying nail changes associated with dermatological and systemic diseases. Data collection entailed a comprehensive clinical history, systemic and dermatological examinations, nail assessment using Dermoscope (DermLite 3, 10x), and supplementary tests. Analyses were performed on Microsoft Excel 2007 software. The studywas approved by the Institute Ethics Committee. Results Among the300 cases, females had a higher prevalence of nail involvement (57%), with a female-to-male ratio of 1.3:1. The most affected age group was 21-40 years, with 6-10 nails typically affected. Notably, housewives showed a higher prevalence. The most frequent nail condition was onychomycosis (24.33%) followed by psoriatic nail changes (20%).Less frequent nail changes involved eczema (5.7%), paronychia (5%), drug-induced (4.3%), lichen planus (3.7%), trauma-induced (3%), twenty nail dystrophy (2.33%), Darier's disease (2%), pemphigus vulgaris (2%), alopecia areata (1.67%), median Heller dystrophy (1.33%), atopic dermatitis (1%), epidermolysis bullosa (1%), racquet nail (1%), leprosy (1%), pityriasis rubra pilaris (0.67%), vitiligo (0.67%), secondary syphilis (0.67%), pachyonychia congenita (0.67%), as well as a case each of total leukonychia, subungual warts, Koenentumor, and periungual fibroma(0.33%). Systemic autoimmune connective tissue disorders (CTD) accounted for 9%; the most common nail finding observed was nail fold erythema (48.1%) followed by nail fold telangiectasis (44.4%). In systemic sclerosis (SS), the most common finding was nail fold telangiectasia, and in systemic lupus erythematosus (SLE), the most common was nail fold erythema. Scleroderma capillary pattern on nail fold capillaroscopy was found in seven patients with SS, two patients with dermatomyositis, and only one patientwith SLE. Nail changes observed in systemic diseasesinclude onychomycosisin diabetes mellitus and chronic renal failure patients, splinter hemorrhagesin ischemic heart disease and hypertension, longitudinal melanonychia in HIV,and koilonychia and platynychia in iron deficiency anemia.Other systemic diseases, such asAddison's disease and renal failure, also exhibited various nail changes. Conclusions Beyond their cosmetic importance, nails hold a vital pathologic role. Proficiency in nail terminology and classification is key for skillful evaluation. Understanding normal and abnormal nail variants, along with their disease associations, benefits diagnosis and tailored management. Nails, often overlooked but accessible, serve as a window into patients' general health and should be an integral part of thorough examinations.This study highlights an intricate clinical panorama of nail disorders, highlighting their significant role in both dermatological and systemic contexts.

Significane of determining antinuclear antibodies in systemic connective tissue disorders in children

Systemic connective tissue diseases (SCTD) are characterized by systemic autoimmune inflammation and are accompanied by development of antinuclear antibodies (ANA). Our aim was a comparative analysis of ANA in blood serum in children with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). The study included 50 patients with SLE, 50 patients with RA who were treated at the National Medical Research Center of Childrens Health. Median age was 12,2 y. o. (9-15.5). The titers of ANA and the cell fluorescence type were determined with the indirect immunofluorescence reaction (IFR) using the HEp-2 cell line (Immco Diagnostics, Inc, USA), as well as the concentration of antibodies to double-stranded DNA (adsDNA) in blood serum samples of the children detected by immunochemiluminescence (ICM) woth Elia dsDNA (Thermo Fisher Scientific, USA). A positive ANA titer and adsDNA were found, respectively, in 98% and in 48% in children with SLE. A positive ANA titer and adsDNA was detected in 100% and in 4% of children with RA, respectively. Highly positive ANA titers ( 1/1280) have been detected in 68% of children with SLE, and in 30% of children with RA. None of the RA patients with highly positive ANA titers had adsDNA. But, in patients with SLE, highly positive ANA titers and a positive dsDNA level were simultaneously detected in 16% of cases. There are both single types of cell fluorescence and their combinations in children with SLE and RA. Nuclear dot-like fluorescence was more common in children with SLE, cytoplasmic type, in children with RA, nucleolar type of glow was found only in children with RA. The revealed combinations of ANA and adsDNA titers in children with SLE and RA confirm the need for simultaneous use of RNIF and ICM.

Fate of the distal aorta following root replacement in Marfan syndrome: a propensity score matched study.

The aortic root is the most frequent segment involved in Marfan syndrome. However, Marfan syndrome is a systemic hereditary connective tissue disorder, and knowledge regarding the outcomes of the native distal aorta after prophylactic aortic root surgery is limited. From April 2010 to December 2020, 226 patients with Marfan syndrome and 1,200 patients without Marfan syndrome who underwent Bentall procedures were included in this study. By propensity score matching, 134 patients were assigned to each group. Clinical manifestations and follow-up data were acquired from hospital records and telephone contact. The cumulative incidence of aortic events was estimated in Marfan and non-Marfan patients with death as a competing risk. Patients with and without Marfan syndrome had similar baseline characteristics after propensity score matching. Differences in the aortic root (62.25 ± 11.96 vs. 54.03 ± 13.76, P < .001) and ascending aorta (37.71 ± 9.86 vs. 48.16 ± 16.01, P < .001) remained after matching. No difference was observed in the frequency of aortic adverse events between the two groups (10.5% vs. 4.6%, P = 0.106). The cumulative incidence of aortic events was not different between Marfan and non-Marfan patients (15.03% ± 4.72% vs. 4.18% ± 2.06%, P = 0.147). Multivariate Cox regression indicated no significant impact of Marfan syndrome on distal aortic events (HR: 1.172, 95% CI: 0.263-5.230, P = 0.835). Descending and abdominal aortic diameter above normal at the initial procedure were associated with the risk of distal aortic events (HR: 20.735, P = .003, HR: 22.981, P = .002, respectively). New-onset events of the residual aorta in patients undergoing Bentall procedures between the Marfan and non-Marfan groups were not significantly different. Distal aortic diameter above normal at initial surgery was associated with a higher risk of adverse aortic events.

ORAL AND DENTAL FINDINGS OF A CHILD WITH WEILL-MARCHESANI SYNDROME TYPE II: A CASE REPORT WITH 3-YEAR FOLLOW-UP

Weill-Marchesani syndrome (WMS, OMIM# 227600) is a genetically determined, rare systemic connective tissue disorder. The syndrome is divided into four types according to mutations in related genes. Given the limited number of individuals with WMS in the literature, no genotype-phenotype correlations for ADAMTS10, ADAMTS17, FBN1, or LTBP2 have been identified. In the accessible literature, none of the limited studies were focused on the oral and dental anomalies of WMS. The present case report describes oral and dental findings of a 63 months old female patients with WMS2.

EPH138 Osteogenesis Imperfecta: Epidemiology Characteristics and Disease Burden in Two Real-World Databases

Osteogenesis imperfecta (OI) is a hereditary, lifelong, systemic connective tissue disorder characterized by bone fragility and recurrent fractures. This study examines the characteristics and disease burden of OI in the United States (US) using two real-world healthcare databases.