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1.
BMJ Case Rep ; 17(3)2024 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-38471700

RESUMO

Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome). On detailed clinical evaluation, he met Beighton's criteria and was diagnosed with arterial tortuosity. Further molecular testing confirmed the diagnosis of Loeys-Dietz syndrome type II.Loeys-Dietz syndrome is characterised by aortic root enlargement or type A dissection with or without other vascular malformations and facial midline defects. Molecular testing is required to establish the diagnosis because of overlapping features with other connective tissue disorders.


Assuntos
Doenças do Tecido Conjuntivo , Síndrome de Goldenhar , Síndrome de Loeys-Dietz , Dermatopatias Genéticas , Masculino , Humanos , Pré-Escolar , Síndrome de Goldenhar/diagnóstico , Síndrome de Loeys-Dietz/complicações , Orelha Externa/anormalidades , Doenças do Tecido Conjuntivo/complicações , Dermatopatias Genéticas/complicações
2.
BMJ Case Rep ; 17(3)2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38479828

RESUMO

Overlap syndromes are diseases that meet the criteria of two or more rheumatic diseases. In this case report, a woman in her 20s presented with a constellation of symptoms, including skin thickening, Raynaud's phenomenon, hypertension, absent pulse in both lower limbs with bilateral renal artery bruit. The antinuclear antibody profile revealed Scl-70 positivity. CT thorax identified early interstitial lung disease, and nailfold capillaroscopy showed severe capillary loss. CT angiogram features were suggestive of Takayasu arteritis. Notably, there have been only four documented cases of systemic sclerosis coexisting with Takayasu arteritis, highlighting the rarity of this overlap syndrome. The diagnosis of overlap syndrome was made after a thorough history recording and clinical examination. In the presence of bilateral renal artery stenosis, managing the scleroderma renal crisis may be challenging . This patient received treatment with mycophenolate mofetil and oral corticosteroids, aiming to address both systemic sclerosis and Takayasu arteritis effectively.


Assuntos
Doenças Autoimunes , Doenças do Tecido Conjuntivo , Doenças Pulmonares Intersticiais , Esclerodermia Localizada , Escleroderma Sistêmico , Arterite de Takayasu , Feminino , Humanos , Arterite de Takayasu/diagnóstico , Arterite de Takayasu/diagnóstico por imagem , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnóstico , Doenças do Tecido Conjuntivo/complicações , Esclerodermia Localizada/complicações , Doenças Pulmonares Intersticiais/complicações , Doenças Autoimunes/complicações
3.
Sci Rep ; 14(1): 5539, 2024 03 06.
Artigo em Inglês | MEDLINE | ID: mdl-38448485

RESUMO

SARS-CoV-2 infection in children is usually asymptomatic/mild. However, some patients may develop critical forms. We aimed to describe characteristics and evaluate the factors associated to in-hospital mortality of patients with critical COVID-19/MIS-C in the Amazonian region. This multicenter prospective cohort included critically ill children (1 mo-18 years old), with confirmed COVID-19/MIS-C admitted to 3 tertiary Pediatric Intensive Care Units (PICU) in the Brazilian Amazon, between April/2020 and May/2023. The main outcome was in-hospital mortality and were evaluated using a multivariable Cox proportional regression. We adjusted the model for pediatric risk of mortality score version IV (PRISMIV) score and age/comorbidity. 266 patients were assessed with 187 in the severe COVID-19 group, 79 included in the MIS-C group. In the severe COVID-19 group 108 (57.8%) were male, median age was 23 months, 95 (50.8%) were up to 2 years of age. Forty-two (22.5%) patients in this group died during follow-up in a median time of 11 days (IQR, 2-28). In the MIS-C group, 56 (70.9%) were male, median age was 23 months and median follow-up was 162 days (range, 3-202). Death occurred in 17 (21.5%) patients with a median death time of 7 (IQR, 4-13) days. The mortality was associated with higher levels of Vasoactive Inotropic-Score (VIS), presence of acute respiratory distress syndrome (ARDS), higher levels of Erythrocyte Sedimentation Rate, (ESR) and thrombocytopenia. Critically ill patients with severe COVID-19 and MIS-C from the Brazilian Amazon showed a high mortality rate, within 12 days of hospitalization.


Assuntos
COVID-19 , COVID-19/complicações , Doenças do Tecido Conjuntivo , Síndrome de Resposta Inflamatória Sistêmica , Criança , Humanos , Masculino , Lactente , Pré-Escolar , Feminino , Estado Terminal , Estudos Prospectivos , COVID-19/epidemiologia , SARS-CoV-2
4.
Taiwan J Obstet Gynecol ; 63(2): 225-228, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38485319

RESUMO

OBJECTIVE: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. CASE REPORT: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. CONCLUSION: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms.


Assuntos
Dissecção Aórtica , Doenças do Tecido Conjuntivo , Síndrome de Loeys-Dietz , Humanos , Feminino , Gravidez , Adulto , Síndrome de Loeys-Dietz/complicações , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/genética , Período Pós-Parto , Dissecção Aórtica/diagnóstico , Dissecção Aórtica/genética , Proteína Smad3/genética
5.
Orphanet J Rare Dis ; 19(1): 122, 2024 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-38486236

RESUMO

BACKGROUND: The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in Chicagoland, or Chicago and its suburbs. In order to explore and begin to address barriers to seeking appropriate care facing EDS patients in this region, we developed an online survey which we circulated through EDS social media groups for Chicagoland patients. RESULTS: Three hundred and nine unique respondents participated. We found that there exists a strong medical need for and interest in the development of a center in the region, and participants reported that, if made available to them, they would make extensive and regular use of such a facility. CONCLUSIONS: We conclude that the establishment of a collaborative medical center specializing in the diagnosis and treatment of EDS, Hypermobility Spectrum Disorder, and related disorders in the Chicagoland area would greatly benefit patients by providing comprehensive care, alleviate the burden on overworked healthcare providers, and contribute to the sustainability of medical facilities.


Assuntos
Doenças do Tecido Conjuntivo , Síndrome de Ehlers-Danlos , Instabilidade Articular , Humanos , Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/diagnóstico , Inquéritos e Questionários
7.
J Integr Neurosci ; 23(2): 35, 2024 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-38419451

RESUMO

BACKGROUND: Several results support the hypothesis that a group of pathologies falling within the Neuromyelitis Optica Spectrum Disorders (NMOSD) diagnostic criteria may coexist with Connective Tissue Diseases (CTD) in patients with a high susceptibility to autoimmune conditions. However, the relationship between NMOSD and rheumatologic diseases deserves further investigations to clarify all clinical aspects of this coexistence. We designed a systematic review and a proportional meta-analysis to estimate the association between CTD and MNOSD, with the aim of helping to plan the best strategy to achieve the most significant public health benefit for these conditions. METHODS: We conducted a systematic review of the literature published until February 2023, searching in four databases: PubMed, Web of Science, EmBase, and OVID. Then, we conducted a random-effects proportional meta-analysis and assessed the risk of bias of the included studies using the Joanna Briggs Institute checklist. RESULTS: The literature search yielded an overall result of 3176 publications (272 from PubMed, 880 from Web of Science, 634 from EmBase and 1390 from OVID). Of these, 29 were included in this systematic review. Analyzing studies that recruited unselected patients with Systemic Lupus Erythematosus (SLE) and Sjogren Syndrome (SjS), the pooled percentages of NMOSD overlapping were 0.6% (95% Confidence Interval [95% CI]: 0.1%-1.4%,) and 6.5% (95% CI: 4.7-8.6), respectively. Studies enrolling rheumatologic patients with nervous system symptoms involvement reported higher percentage of NMOSD (i.e., among SjS patients, a pooled percentage of 26.5%, 95% CI: 5.5-54.6%, was found). Similarly, recruiting patients with NMOSD, we found pooled percentages of SjS or SLE respectively of 7.0% and 3.5%. CONCLUSIONS: Our research found that the coexistence of these two disorders was more frequent in female rheumatologic patients with a SjS diagnosis with neurological manifestations and in neurologic patients for whom a SjS diagnosis was suspected. Similarly, NMOSD are less frequently found in SLE and very rarely incident in Mixed Connective Tissue Disease (MCTD) patients. These considerations should be taken into account in clinical experience of rheumatologists and neurologists, since early diagnosis of both conditions may influence the timing of immunosuppressive therapy and the prevention of systemic disabilities.


Assuntos
Artrite Reumatoide , Doenças do Tecido Conjuntivo , Lúpus Eritematoso Sistêmico , Neuromielite Óptica , Humanos , Feminino , Neuromielite Óptica/complicações , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/tratamento farmacológico , Aquaporina 4/uso terapêutico , Doenças do Tecido Conjuntivo/complicações , Lúpus Eritematoso Sistêmico/complicações
8.
Chron Respir Dis ; 21: 14799731241236492, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38411460

RESUMO

OBJECTIVE: The aim of this study is to investigate how much intermittent hypoxemia and airflow limitation contribute to cognitive impairment in overlap syndrome (OS), which is the coexistence of two common diseases, obstructive sleep apnea hypopnea syndrome (OSAHS) and chronic obstructive pulmonary disease (COPD). METHODS: We conducted a cross-sectional study of patients with OSAHS, COPD or OS, compared with normal controls, to determine the association between sleep apnea/pulmonary function-related indicators and cognitive dysfunction in individuals with OSAHS, COPD or OS. RESULTS: A total of 157 participants were recruited. Both OSAHS and OS presented lower adjusted Montreal cognitive assessment (MoCA) scores compared with COPD group. In addition, the MoCA score was significantly lower in COPD group compared with control group. The incidence of cognitive impairment was 57.4% in OSAHS group, and 78% in OS group, which were significantly higher than COPD group (29%) and control group (8.8%). Furthermore, a broader range of cognitive domains were affected in OS group compared with OSAHS group. Elevated levels of oxygen desaturation index (ODI) and/or apnea hypopnea index (AHI) were positively correlated with increased Epworth sleeping scale (ESS) in OSAHS and OS. Forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1) and peak expiratory flow (PEF) were positively correlated with cognitive scores in OSAHS but not in OS. Serum level of hypoxia-inducible factor-1α (HIF-1α) was significantly higher in OS. Logistic regression identified ODI as an independent risk factor for cognitive impairment in OS, while severity of snoring and PEF were independent risk factors in OSAHS. DISCUSSION: This study revealed significant cognitive impairment in OS, OSAHS and COPD. Sleep-related indicators are warranted in OS patients for detection, differentiation and grading of cognitive impairment, whereas pulmonary functions are warranted in OSAHS patients for detection and early intervention of cognitive impairment.


Assuntos
Doenças Autoimunes , Disfunção Cognitiva , Doenças do Tecido Conjuntivo , Doença Pulmonar Obstrutiva Crônica , Síndromes da Apneia do Sono , Apneia Obstrutiva do Sono , Humanos , Estudos Transversais , Doença Pulmonar Obstrutiva Crônica/complicações , Apneia Obstrutiva do Sono/complicações , Disfunção Cognitiva/diagnóstico
9.
PLoS One ; 19(2): e0298225, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38335208

RESUMO

BACKGROUND: An association between primary biliary cholangitis (PBC) and connective tissue diseases (CTDs) [rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), systemic sclerosis (SSc)] has been found in observational studies. However, the direction causality is unclear. The aim of this study was to assess the causality between PBC and CTDs and to promote early screening, pre-emptive therapy, and accurate stratification. METHODS: A two-sample Mendelian randomization (MR) analysis was performed to assess the causal relationship between PBC [Genome-Wide Association Study (GWAS) meta-analysis, 8021 cases/16498 controls], and SLE (GWAS meta-analysis, 8021 cases/16489 controls), RA(FinnGen, 6236 cases/14727 controls), SS(FinnGen, 2495 cases/365533 controls), SSc (FinnGen, 302 cases/213145 controls). Inverse variance weighting (IVW) was used as the primary analysis method, supplemented by four sensitivity analyses to assess the robustness of the results. RESULTS: The IVW revealed that genetically predicted PBC increased the risk of SLE [odd's ratio (OR) = 1.43, 95% confidence interval (CI) 1.30-1.58, P < 0.001]), RA (OR = 1.09, 95%CI1.04-1.14, P<0.001), and SS (OR = 1.18, 95%CI1.12-1.24, P<0.001), but not that of SSc. In addition, no association was observed between CTDs as an exposure and PBC. Sensitivity analyses did not reveal horizontal pleiotropy. CONCLUSIONS: Our study provided new genetic evidence for a causal relationship between PBC and CTDs. PBC increased the risk of SLE, RA, and SS. Our findings highlighted the importance of active screening and intervention for CTDs in patients with PBC.


Assuntos
Artrite Reumatoide , Doenças do Tecido Conjuntivo , Cirrose Hepática Biliar , Lúpus Eritematoso Sistêmico , Escleroderma Sistêmico , Síndrome de Sjogren , Humanos , Estudo de Associação Genômica Ampla , Cirrose Hepática Biliar/genética , Análise da Randomização Mendeliana , Lúpus Eritematoso Sistêmico/genética , Síndrome de Sjogren/epidemiologia , Síndrome de Sjogren/genética , Escleroderma Sistêmico/genética
11.
Pediatr Dermatol ; 41(2): 243-246, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38413004

RESUMO

BACKGROUND: Idiopathic aseptic facial granuloma (IAFG) is an underrecognized pediatric skin disease, currently considered within the spectrum of rosacea. It usually manifests as a solitary, reddish, asymptomatic nodule on the cheek that resolves spontaneously. METHODS: Retrospective and descriptive observational study of 43 pediatric patients with a clinical diagnosis of IAFG, followed between 2004 and 2022, at two general hospitals in Argentina. RESULTS: IAFG predominated in girls (65%) and the average age of onset was about 6 years. A single asymptomatic nodule was seen in 79% of patients. The most common localization was the cheek (58%) followed by lower eyelids (41%). Family history of rosacea was present in 16% of patients. A concomitant diagnosis of rosacea and periorificial dermatitis was made in 14% and 9% of our population, respectively. Past or present history of chalazia was detected in 42% of the children. IAFG diagnosis was mainly clinical (88% of cases). Oral antibiotics were the most common indicated treatment (84%). Complete healing was achieved by the majority, but 18% of those with eyelid compromise healed with scars. CONCLUSIONS: IAFG is a benign pediatric condition that physicians should recognize in order to manage correctly. We herein refer to a particular morphologic aspect of IAFG lesions affecting the lower eyelids, where nodules adopt a linear distribution and have a higher probability of involute leaving a scar. Also, we consider that the concomitant findings of rosacea, periorificial dermatitis and chalazia in our patients, reinforce the consideration of IAFG within the spectrum of rosacea.


Assuntos
Calázio , Doenças do Tecido Conjuntivo , Dermatite , Dermatoses Faciais , Rosácea , Feminino , Humanos , Criança , Estudos Retrospectivos , Calázio/complicações , Calázio/diagnóstico , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/tratamento farmacológico , Dermatoses Faciais/patologia , Granuloma/diagnóstico , Granuloma/tratamento farmacológico , Rosácea/diagnóstico , Rosácea/tratamento farmacológico , Rosácea/epidemiologia
13.
Semin Arthritis Rheum ; 65: 152396, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38340610

RESUMO

BACKGROUND: The primary therapies for connective tissue disease include glucocorticoids and immunosuppressants. However, their prolonged usage can precipitate opportunistic infections, such as cytomegalovirus infection. When managing connective tissue disease complicated by cytomegalovirus infection, judicious selection of treatment modalities is crucial. This involves assessing the necessity for antiviral therapy and contemplating the reduction or cessation of glucocorticoids and immunosuppressants. OBJECTIVE: This investigation sought to methodically review existing literature regarding treating connective tissue disease patients with cytomegalovirus infection. METHODS: On July 5, 2023, an exhaustive literature search was conducted. Data analysis utilized the Kruskal-Wallis test or one-way analysis of variance, supplemented by Bonferroni post hoc testing. RESULTS: Our meta-analysis incorporated 88 studies encompassing 146 connective tissue disease patients with CMV infections. The results indicated that patients with connective tissue disease and cytomegalovirus disease benefitted more from antiviral therapy than those not receiving such treatment (P = 0.003, P < 0.005). Furthermore, the strategic reduction of glucocorticoids and/or immunosuppressants was beneficial (P = 0.037, P < 0.05). Poor clinical outcomes with glucocorticoid-immunosuppressant combination therapy compared to other treatment modalities. The findings also suggested that CMV infection patients fare better without Cyclosporine A than using it (P = 0.041, P < 0.05). CONCLUSION: Antiviral therapy is a viable treatment option in cases of connective tissue disease co-occurring with cytomegalovirus disease. Additionally, when connective tissue disease is stable, there is potential merit in reducing glucocorticoids and/or immunosuppressants, especially avoiding the combination of these drugs. For all cytomegalovirus infection patients, Cyclosporine A may be avoided wherever possible for selecting immunosuppressive agents if its use is not deemed essential in the treatment regimen.


Assuntos
Doenças do Tecido Conjuntivo , Infecções por Citomegalovirus , Humanos , Antivirais/uso terapêutico , Ciclosporina/uso terapêutico , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/tratamento farmacológico , Imunossupressores/uso terapêutico , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/tratamento farmacológico , Glucocorticoides/uso terapêutico
16.
BMJ Case Rep ; 17(2)2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38359953

RESUMO

Cutis verticis gyrata (CVG) is a very rare benign disorder characterised by convoluted folds and deep furrows of the scalp that mimic cerebral sulci and gyri. Associations with other pathologies as neuropsychiatric and/or ophthalmologic disorders, secondary cases to inflammatory or neoplastic processes, as well as cases associated to genetic disorders as Turner's syndrome have been reported, but there is no literature describing an association with a congenital structural heart defect and no other underlying condition. We report a case of primary CVG in a 3-week-old female infant associated with an echocardiographic diagnosis of cor triatriatum. Other systemic examination findings and investigations were unremarkable, and the patient has normal neurodevelopment at 1 year old. Aside from the neuropsychiatric and ophthalmologic pathologies commonly associated with primary non-essential CVG, it should be noted that isolated congenital cardiac lesions are also possible, so as to increase our index of suspicion in patients with the disorder.


Assuntos
Doenças do Tecido Conjuntivo , Cardiopatias Congênitas , Dermatoses do Couro Cabeludo , Anormalidades da Pele , Humanos , Feminino , Lactente , Dermatoses do Couro Cabeludo/complicações , Dermatoses do Couro Cabeludo/diagnóstico , Dermatoses do Couro Cabeludo/patologia , Couro Cabeludo/patologia , Anormalidades da Pele/diagnóstico , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/diagnóstico por imagem , Diagnóstico Diferencial , Doenças do Tecido Conjuntivo/diagnóstico , Doenças Raras/diagnóstico
18.
Respir Med ; 224: 107577, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38408707

RESUMO

BACKGROUND: Patients with idiopathic interstitial pneumonia (IIP) have a favourable prognosis when they have interstitial pneumonia with autoimmune features (IPAF). However, precise IPAF-related findings from high-resolution computed tomography (HRCT) and lung histopathological specimens and the treatment response have not been fully determined. Therefore, this study was conducted to evaluate the relationship between findings on HRCT or lung histopathological specimens and the progression of interstitial pneumonia in patients with IPAF. METHODS: This multicentre cohort study prospectively enrolled consecutive patients with IIP. At the diagnosis of IIP, we systematically evaluated 74 features suggestive of connective tissue diseases and followed them up. HRCT, lung specimens, serum antibodies, and the clinical course were also evaluated. RESULTS: Among 222 patients with IIP, 26 (11.7%) fulfilled the IPAF criteria. During a median observation period of 36 months, patients with IPAF showed better survival than those without IPAF (p = 0.034). While histopathological findings were not related to IPAF, nonspecific interstitial pneumonia (NSIP) with organizing pneumonia (OP) overlap was the most prevalent HRCT pattern (p < 0.001) and the consolidation opacity was the most common radiological finding in IPAF (p = 0.017). Furthermore, in patients with IPAF, the diagnosis of COP or NSIP with OP overlap was associated with a higher increase in %FVC in 1 year than in those with idiopathic pulmonary fibrosis, NSIP, or unclassifiable IIP (p = 0.002). CONCLUSIONS: This study shows the presence of consolidation opacity on HRCT and the diagnosis of COP or NSIP with OP overlap are associated with IPAF and its favourable treatment response in patients with IPAF.


Assuntos
Doenças Autoimunes , Doenças do Tecido Conjuntivo , Pneumonias Intersticiais Idiopáticas , Doenças Pulmonares Intersticiais , Humanos , Estudos de Coortes , Estudos Prospectivos , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico por imagem , Estudos Retrospectivos , Doenças Pulmonares Intersticiais/diagnóstico , Pneumonias Intersticiais Idiopáticas/diagnóstico , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico por imagem
19.
Int J Rheum Dis ; 27(1): e15027, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38287555

RESUMO

Idiopathic inflammatory myopathies (IIM) are a group of highly heterogeneous systemic autoimmune diseases, of which clinically amyopathic dermatomyositis (CADM) is a distinct sub-type. Pulmonary hypertension (PH) is a life-threatening medical condition that can occur as a complication of connective tissue diseases. Herein, our report first suggests that PH can develop in CADM. A 48-year-old woman came to our hospital due to a 3 months history of facial edema and shortness of breath. Relevant examinations revealed Gottron's sign, normal creatinine kinase levels, elevated levels of mean pulmonary artery pressure, double-positive anti-MDA5 and anti-Ro52 antibodies, and typical pathological changes associated with myositis. The diagnosis of CADM combined with PH was considered. The patient responded well to the immunosuppression therapy and PH-related drug therapy. We provide further insights that patients with IIM need to undergo regular assessment of PH.


Assuntos
Doenças do Tecido Conjuntivo , Dermatomiosite , Hipertensão Pulmonar , Miosite , Feminino , Humanos , Pessoa de Meia-Idade , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/tratamento farmacológico , Hipertensão Pulmonar/etiologia , Autoanticorpos , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Dermatomiosite/tratamento farmacológico , Doenças do Tecido Conjuntivo/complicações , Miosite/complicações
20.
Pathol Res Pract ; 254: 155078, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38262268

RESUMO

Differentiating between idiopathic interstitial pneumonia (IIP) and secondary interstitial pneumonia, particularly connective tissue disease-associated interstitial lung disease (CTD-ILD), can be challenging histopathologically, and there may be discrepancies among pathologists. While surgical lung biopsy has traditionally been considered the gold standard for diagnosing interstitial pneumonia, the usefulness of transbronchial lung cryobiopsy (TBLC) has been reported. If TBLC could effectively distinguish between primary and secondary diseases, it would provide a less invasive option for patients. The aim of this study was to identify specific pathologic findings in TBLC specimens that could assist in distinguishing CTD-ILD from IIP. A total of 93 underwent TBLC at Tenri Hospital between 2018 and 2022. We retrospectively reviewed cases of CTD-ILD exhibiting a nonspecific interstitial pneumonia (NSIP) pattern (CTD-NSIP) and cases of NSIP with an unknown etiology (NSIP-UE), as determined through multidisciplinary discussion. Nineteen patients with CTD-NSIP and 26 patients with NSIP-UE were included in the study for clinicopathological analysis. The CTD-NSIP group had a significantly higher proportion of female patients compared to the NSIP-UE group (79% vs. 31%; p = 0.002). The presence of both fresh and old intraluminal fibrosis within the same TBLC specimen was significantly more frequent in CTD-NSIP group than in the NSIP-UE group (p = 0.023). The presence of an NSIP pattern with co-existing fresh and old intraluminal fibrosis in TBLC specimens raised suspicion for CTD-ILD.


Assuntos
Doenças do Tecido Conjuntivo , Fibrose Pulmonar Idiopática , Doenças Pulmonares Intersticiais , Humanos , Feminino , Fibrose Pulmonar Idiopática/diagnóstico , Fibrose Pulmonar Idiopática/patologia , Estudos Retrospectivos , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/patologia , Pulmão/patologia , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/patologia , Biópsia , Fibrose
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