Objective To investigate the clinical features of neuromyelitis optica spectrum disorders(NMOSD)with connective tissue diseases(CTD). Methods Clinical data of 16 NMOSD-CTD patients and 54 NMOSD patients admitted to the Second Affiliated Hospital of Fujian Medical University from January 2015 to February 2020 were collected.The initial symptom,intracranial lesion,spinal cord lesion,laboratory examination and treatment response were compared between the two groups. Results The incidence of Sjögren's syndrome(SS)was the highest(10/16,62.5%)in NMOSD-CTD group.The NMOSD-CTD group had significantly higher positive rate of aquaporin-4 immunoglobulin G(AQP4-IgG)in serum or cerebrospinal fluid(100% vs. 70.2%,P=0.009),higher positive rates of serum anti-nuclear antibodies,anti Sjögren's syndrome A antibodies and anti-Ro52 autoantibodies(P<0.001),as well as higher proportion of patients with the expanded disability status scale score ≥ 6(50.0% vs. 22.2%,P=0.035)than the NMOSD group.There was no significant difference between the two groups in the age of onset,visiting age,recurrence frequency,disease course,distribution of intracranial lesions,spinal cord involvement,or the effective rate of glucocorticoid pulse therapy(all P>0.05).Conclusions NMOSD is often complicated with CTD,and SS is the most common one.The positive rate of serum or cerebrospinal AQP4-IgG and the seropositivity of several other autoantibodies in NMOSD-CTD patients were higher than those in NMOSD patients.Neurological impairment in NMOSD-CTD patients were severer,which should arouse attention of clinicians.
Aquaporin 4 ; Autoantibodies ; Connective Tissue Diseases/epidemiology* ; Humans ; Immunoglobulin G ; Neuromyelitis Optica/epidemiology*

OBJECTIVE: To investigate the significance of anti-histidyl tRNA synthetase (Jo-1) antibody in idiopathic inflammatory myopathies (IIM) and its diseases spectrum. METHODS: We enrolled all the patients who were tested positive for anti-Jo-1 antibody by immunoblotting in Peking University People's Hospital between 2016 and 2022. And the patients diagnosed with anti-synthetase antibody syndrome (ASS) with negative serum anti-Jo-1 antibody were enrolled as controls. We analyzed the basic information, clinical characteristics, and various inflammatory and immunological indicators of the patients at the onset of illness. RESULTS: A total of 165 patients with positive anti-Jo-1 antibody were enrolled in this study. Among them, 80.5% were diagnosed with connective tissue disease. And 57.6% (95/165) were diagnosed with IIM, including ASS (84/165, 50.9%), immune-mediated necrotizing myopathy (7/165, 4.2%) and dermatomyositis (4/165, 2.4%). There were 23.0% (38/165) diagnosed with other connective tissue disease, mainly including rheumatoid arthritis (11/165, 6.7%), undifferentiated connective tissue disease (5/165, 3.0%), interstitial pneumonia with autoimmune features (5/165, 3.0%), undifferentiated arthritis (4/165, 2.4%), Sjögren's syndrome (3/165, 1.8%), systemic lupus erythematosus (3/165, 1.8%), systemic vasculitis (3/165, 1.8%), and so on. Other cases included 3 (1.8%) malignant tumor patients, 4 (2.4%) infectious cases and so on. The diagnoses were not clear in 9.1% (15 /165) of the cohort. In the analysis of ASS subgroups, the group with positive serum anti-Jo-1 antibody had a younger age of onset than those with negative serum anti-Jo-1 antibody (49.9 years vs. 55.0 years, P=0.026). Clinical manifestations of arthritis (60.7% vs. 33.3%, P=0.002) and myalgia (47.1% vs. 22.2%, P=0.004) were more common in the ASS patients with positive anti-Jo-1 antibody. With the increase of anti-Jo-1 antibody titer, the incidence of the manifestations of arthritis, mechanic hands, Gottron sign and Raynaud phenomenon increased, and the proportion of abnormal creatine kinase and α-hydroxybutyric dehydrogenase index increased in the ASS patients. The incidence of myalgia and myasthenia were significantly more common in this cohort when anti-Jo-1 antibody-positive ASS patients were positive for one and more myositis specific antibodies/myositis associated autoantibodies (P < 0.05). CONCLUSION The disease spectrum in patients with positive serum anti-Jo-1 antibody includes a variety of diseases, mainly ASS. And anti-Jo-1 antibody can also be found in many connective tissue diseases, malignant tumor, infection and so on.
Humans ; Middle Aged ; Myalgia ; Myositis/epidemiology* ; Autoantibodies ; Connective Tissue Diseases ; Arthritis, Rheumatoid ; Neoplasms

OBJECTIVE: To investigate the fetal and maternal outcomes, risk factors of disease progression and adverse pregnancy outcomes (APOs) in patients with undifferentiated connective tissue disease (UCTD). METHODS: This retrospective study described the outcomes of 106 pregnancies in patients with UCTD. The patients were divided into APOs group (n=53) and non-APOs group (n=53). The APOs were defined as miscarriage, premature birth, pre-eclampsia, premature rupture of membranes (PROM), intrauterine growth restriction (IUGR), postpartum hemorrhage (PPH), and stillbirth, small for gestational age infant (SGA), low birth weight infant (LBW) and birth defects. The differences in clinical manifestations, laboratory data and pregnancy outcomes between the two groups were compared. Logistic regression analysis was performed to analyze the risk factors for APOs and the progression of UCTD to definitive CTD. RESULTS: There were 99 (93.39%) live births, 4 (3.77%) stillbirths and 3 (2.83%) miscarriage, 20 (18.86%) preterm delivery, 6 (5.66%) SGA, 17 (16.03%) LBW, 11 (10.37%) pre-eclampsia, 7 (6.60%) cases IUGR, 19 (17.92%) cases PROM, 10 (9.43%) cases PPH. Compared with the patients without APOs, the patients with APOs had a higher positive rate of anti-SSA antibodies (73.58% vs. 54.71%, P=0.036), higher rate of leukopenia (15.09% vs. 3.77%, P=0.046), lower haemoglobin level [109.00 (99.50, 118.00) g/L vs. 124.00 (111.50, 132.00) g/L, P < 0.001].Multivariate Logistic regression analysis showed that leucopenia (OR=0.82, 95%CI: 0.688-0.994) was an independent risk factors for APOs in UCTD (P=0.042). Within a mean follow-up time of 5.00 (3.00, 7.00) years, the rate of disease progression to a definite CTD was 14.15%, including 8 (7.54%) Sjögren's syndrome, 4 (3.77%) systemic lupus erythematosus (SLE), 4 (3.77%) rheumatoid arthritis and 1 (0.94%) mixed connective tissue disease. Multivariate Cox proportional risk regression analysis showed that Raynaud phenomenon (HR=40.157, 95%CI: 3.172-508.326) was an independent risk factor for progression to SLE. CONCLUSION Leukopenia is an independent risk factor for the development of APOs in patients with UCTD. Raynaud's phenmon is a risk factor for the progression of SLE. Tight disease monitoring and regular follow-up are the key measures to prevent adverse pregnancy outcomes and predict disease progression in UCTD patients with pregnancy.
Pregnancy ; Infant, Newborn ; Female ; Humans ; Pregnancy Outcome ; Retrospective Studies ; Abortion, Spontaneous/etiology* ; Undifferentiated Connective Tissue Diseases ; Pre-Eclampsia/epidemiology* ; Lupus Erythematosus, Systemic ; Risk Factors ; Leukopenia ; Pregnancy Complications/epidemiology* ; Disease Progression ; Connective Tissue Diseases/epidemiology*

Objective: To analyze the clinical characteristics of children with multisystem inflammatory syndrome (MIS-C) associated with SARS-CoV-2 in China, and to improve the understanding of MIS-C among pediatricians. Methods: Case series study.Collect the clinical characteristics, auxiliary examinations, treatment decisions, and prognosis of 64 patients with MIS-C from 9 hospitals in China from December 2022 to June 2023. Results: Among the 64 MIS-C patients, 36 were boys and 28 were girls, with an onset age being 2.8 (0.3, 14.0) years. All patients suffered from fever, elevated inflammatory indicators, and multiple system involvement. Forty-three patients (67%) were involved in more than 3 systems simultaneously, including skin mucosa 60 cases (94%), blood system 52 cases (89%), circulatory system 54 cases (84%), digestive system 48 cases (75%), and nervous system 24 cases (37%). Common mucocutaneous lesions included rash 54 cases (84%) and conjunctival congestion and (or) lip flushing 45 cases (70%). Hematological abnormalities consisted of coagulation dysfunction 48 cases (75%), thrombocytopenia 9 cases (14%), and lymphopenia 8 cases (13%). Cardiovascular lesions mainly affected cardiac function, of which 11 patients (17%) were accompanied by hypotension or shock, and 7 patients (12%) had coronary artery dilatation.Thirty-six patients (56%) had gastrointestinal symptoms, 23 patients (36%) had neurological symptoms. Forty-five patients (70%) received the initial treatment of intravenous immunoglobulin in combination with glucocorticoids, 5 patients (8%) received the methylprednisolone pulse therapy and 2 patients (3%) treated with biological agents, 7 patients with coronary artery dilation all returned to normal within 6 months. Conclusions: MIS-C patients are mainly characterized by fever, high inflammatory response, and multiple organ damage. The preferred initial treatment is intravenous immunoglobulin combined with glucocorticoids. All patients have a good prognosis.
Male ; Child ; Female ; Humans ; Immunoglobulins, Intravenous/therapeutic use* ; Blood Coagulation ; COVID-19 ; China/epidemiology* ; Connective Tissue Diseases ; Coronary Aneurysm ; Fever ; Systemic Inflammatory Response Syndrome/therapy*

Bronchiolitis Obliterans(BO) is one of the rare inflammatory lung disease that primarily affects bronchi and bronchioles, followed by partial or complete obstruction. In children, the etiology of BO has been under consideration, but infections and toxic inhalation, connective tissue diseases, lung transplantation, congestive pulmonary edema, etc., may be causes of BO. Even though steroid therapy was reported as an effective treatment, there are few data regarding the epidemiology, pathophysiology, long term prognosis and therapy. Here we describe a 5-year-old boy who presented with intractable wheezing associated with Stevens-Johnson syndrome after Varicella-Zoster virus infection and was diagnosed as BO through chest high-resolution computed tomography.
Bronchi ; Bronchioles ; Bronchiolitis Obliterans* ; Bronchiolitis* ; Child ; Child, Preschool ; Connective Tissue Diseases ; Epidemiology ; Estrogens, Conjugated (USP) ; Herpesvirus 3, Human ; Humans ; Inhalation ; Lung Diseases ; Lung Transplantation ; Male ; Prognosis ; Pulmonary Edema ; Respiratory Sounds ; Stevens-Johnson Syndrome* ; Thorax

Despite recent advances in understanding of the pathobiology and targeted treatments of pulmonary arterial hypertension (PAH), epidemiologic data from large populations have been limited to western countries. The aim of the Korean Registry of Pulmonary Arterial Hypertension (KORPAH) was to examine the epidemiology and prognosis of Korean patients with PAH. KORPAH was designed as a nationwide, multicenter, prospective data collection using an internet webserver from September 2008 to December 2011. A total of 625 patients were enrolled. The patients' mean age was 47.6 +/- 15.7 yr, and 503 (80.5%) were women. The diagnostic methods included right heart catheterization (n = 249, 39.8%) and Doppler echocardiography (n = 376, 60.2%). The etiologies, in order of frequency, were connective tissue disease (CTD), congenital heart disease, and idiopathic PAH (IPAH) (49.8%, 25.4%, and 23.2%, respectively). Patients with WHO functional class III or IV at diagnosis were 43.4%. In total, 380 (60.8%) patients received a single PAH-specific treatment at the time of enrollment, but only 72 (18.9%) patients received combination therapy. Incident cases during the registry represented 297 patients; therefore, the incidence rate of PAH was 1.9 patients/yr/million people. The 1st-, 2nd-, and 3rd-yr estimated survival rates were 90.8%, 87.8%, and 84.4%, respectively. Although Korean PAH patients exhibited similar age, gender, and survival rate compared with western registries, they showed relatively more CTD-PAH in the etiology and also systemic lupus erythematosus among CTD-PAH. The data suggest that earlier diagnosis and more specialized therapies should be needed to improve the survival of PAH patients.
Adult ; Aged ; Connective Tissue Diseases/complications ; Data Collection ; *Databases, Factual ; Familial Primary Pulmonary Hypertension/*epidemiology/mortality/therapy ; Female ; Heart Defects, Congenital/complications ; Humans ; Internet ; Male ; Middle Aged ; Prognosis ; Prospective Studies ; Pulmonary Artery/*physiopathology ; *Registries ; Republic of Korea/epidemiology ; Survival Rate ; Young Adult

AIMTo help clarifying the possibility of connective-tissue diseases in men with penile or testicular prostheses.

METHODSEight patients underwent inflatable penile prostheses and 15, testicular prostheses consented to the study. Their medical records were reviewed and a follow-up interview and physical and serological examinations were performed.

RESULTSIn patients with penile prostheses, there was no abnormal antinuclear antibody (ANA) or IgM elevation. The serum levels of the rheumatoid factor (RF), C4, IgA and IgG were abnormal in one patient, and the levels of erythrocyte sedimentation rate (ESR) and C3, abnormal in two. Four had elevated IgE. In patients with testicular prostheses, there was no abnormal RF, ANA or IgM. The serum levels of ESR and IgA were abnormal in two, and three had abnormal C4, ten abnormal C3, and eleven decreased IgG. All had increased IgE. Men with penile prostheses had higher serum levels of IgG and IgM than those with testicular prostheses (P=0.001, P=0.016, respectively). The rates of abnormal values of IgE and IgG were higher in men with testicular prostheses than in men with penile prostheses (P=0.008, P=0.009, respectively). Physical examination was normal in all patients and nobody had documented symptoms pertinent to connective-tissue diseases.

CONCLUSIONOur findings suggest that the risk of connective-tissue diseases is not higher in patients wearing prostheses as the ANA is negative and there is no apparent manifestation suggestive of connective-tissue diseases.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Blood Sedimentation ; Complement C3 ; metabolism ; Complement C4 ; metabolism ; Connective Tissue Diseases ; epidemiology ; etiology ; immunology ; Humans ; Immunoglobulin A ; blood ; Immunoglobulin E ; blood ; Immunoglobulin G ; blood ; Immunoglobulin M ; blood ; Male ; Middle Aged ; Penile Prosthesis ; adverse effects ; Pilot Projects ; Risk Factors ; Silicon ; adverse effects ; immunology