Analysis of mixed connective disorder: a case report

Mixed connective tissue disease (MCTD) as an autoimmune disorder with characteristics that resemble systemic sclerosis, systemic lupus erythematosus (SLE), and polymyositis. Due to this overlap, MCTD is often categorized as an overlap disease. As the disease progresses, symptoms may become more indicative of one of the three primary illnesses, accompanied by elevated levels of anti-U1RNP antibody. 30yrs female Patient presented with a classical malar rash as the initial presentation, followed by the development of a painful red lesion on the knuckles over a few weeks. Additionally, the patient observed a hypopigmented large lesion on the forearm resembling vitiligo, with a salt and pepper appearance. Upon clinical evaluation and further extensive investigation, the patient was diagnosed with mixed connective tissue disease (MCTD). On further evaluation the anti-U1RNP antibody, ANA, was positive and patient was treated on lines of MCTD. Patient responded well to the treatment. Our case suggests that mixed connective tissue disease if recognised early with symptoms and signs and workup we can prevent the shift to other connective tissue diseases over a long period; therefore, it is necessary to identify whether patients with mixed connective tissue disease fulfil the diagnostic criteria for other connective tissue diseases when new manifestations appear.

Síndrome antifosfolipídico trombótico en una mujer con enfermedad mixta del tejido conectivo. Reporte de caso / Thrombotic antiphospholipid syndrome in a woman with mixed connective tissue disease. Case report

Introducción: El síndrome de anticuerpos antifosfolípidos es una enfermedad au-toinmune sistémica poco frecuente, produce hipercoagulabilidad con riesgo de trombosis. Para el diagnóstico se utilizan los criterios ACR/EULAR APS del 2023. El tratamiento es anticoagulantes y antiagregantes plaquetarios. La enfermedad mixta del tejido conectivo es enfermedad autoinmunitaria sistémica con la asociación de manifestaciones clínicas de otras entidades autoinmunes. Objetivo:Describir la presentación de dos enfermedades sistémicas autoinmunes poco frecuentes en conjunto, con el propósito de contribuir con un enfoque prác-tico para el diagnóstico y manejo. Presentación del caso: Se describe una paciente de 37 años que presentó un episodio de tromboembolia pulmonar secundario a síndrome de anticuerpos anti-fosfolípidos y en los 6 meses previos tuvo síntomas compatibles con enfermedad mixta del tejido conectivo. Discusión: La presencia de dos entidades autoinmunes, síndrome de anticuerpos antifosfolípidos y enfermedad mixta del tejido conectivo presentadas en conjunto y cuyo debut de complicaciones fue una tromboembolia pulmonar, encontrándo-se presencia de múltiples autoanticuerpos positivos entre estas anticuerpos an-tifosfolipídicos y anti-U1 snRNP, es un reto diagnóstico al diferenciar entre otras enfermedades del tejido conectivo como lupus eritematoso sistémico, esclerosis sistémica cutánea, enfermedad mixta del tejido conectivo y artritis reumatoide. El tratamiento se basó en las características del paciente y su condición clínica al momento del diagnóstico. Conclusiones: El síndrome de anticuerpos antifosfolipídicos conlleva la presencia de un episodio trombótico, por otro lado, su asociación con una enfermedad mixta del tejido conectivo es poco frecuente y puede aumentar su morbimortalidad.

Introduction: Antiphospholipid antibody syndrome is a rare systemic autoimmu-ne disease that produces Antiphospholipid antibody syndrome is a rare systemic autoimmune disease that causes hypercoagulability with risk of thrombosis. For diagnosis, the ACR/EULAR APS 2023 criteria are used. Treatment is anticoagulants and antiplatelet agents.Mixed connective tissue disease is a systemic autoimmune disease with the asso-ciation of clinical manifestations of other autoimmune entities.Objective:To describe the presentation of two rare autoimmune systemic diseases toge-ther, with the purpose of contributing a practical approach to diagnosis and management.Case presentation: 37-year-old patient with an episode of pulmonary thromboem-bolism secondary to antiphospholipid antibody syndrome and in the previous 6 months he had symptoms compatible with mixed connective tissue disease.Discussion:The presence of two autoimmune entities, antiphospholipid antibody syndrome and mixed connective tissue disease presented together and whose de-but of complications was a pulmonary thromboembolism, finding the presence of multiple positive autoantibodies between these antiphospholipid antibodies and an-ti-U1 snRNP, is a diagnostic challenge in differentiating between other connective tissue diseases such as systemic lupus erythematosus, cutaneous systemic sclero-sis, mixed connective tissue disease and rheumatoid arthritis. Treatment was based on the patient's characteristics and clinical condition at the time of diagnosis.Conclusions: Antiphospholipid antibody syndrome entails the presence of a thrombotic episode; on the other hand, its association with a mixed connective tissue disease is rare and may increase its morbidity and mortality.

Navigating mixed connective tissue disease in pregnancy: a rare case report

Autoimmune connective tissue diseases (CTDs) in pregnancy present a complex interplay between maternal health and fetal outcomes. While historically discouraged due to potential complications, proper preconception counselling and disease control offer the prospect of safe pregnancies. This case report focuses on mixed connective tissue disease (MCTD), a rare condition combining features of SLE, systemic sclerosis, rheumatoid arthritis, and polymyositis, presenting during pregnancy. A 29-year-old woman, gravida 2, para 1, with a history of rheumatoid arthritis, was referred at 31+4 weeks with a deranged coagulation profile, fetal growth restriction (FGR), and oligohydramnios. Extensive laboratory and imaging investigations confirmed MCTD diagnosis. Treatment involved LMWH, aspirin, hydroxychloroquine, and prednisolone. Comprehensive monitoring and multidisciplinary care were maintained throughout. Despite initial improvement, the patient faced complications at 35+3 weeks, leading to an emergency caesarean section at 36 weeks due to preterm FGR, oligohydramnios, and breech presentation. A male infant weighing 2.1 kgs was delivered, requiring neonatal intensive care due to prematurity and respiratory distress. Postoperatively, the mother resumed medication and was discharged with her baby. This case highlights successful MCTD management during pregnancy through meticulous monitoring and a multidisciplinary approach. The risk of complications necessitates informed preconception counselling, emphasizing the importance of disease remission, close surveillance, and prompt intervention in disease relapse. Comprehensive care, including medications and careful planning, contributes to improved maternal and neonatal outcomes in this rare and challenging scenario.

Clinical Profile of Sharp Syndrome: Is it rare in India?

Background: In 1972, Dr Sharp and colleagues described a new connective tissue disease, characterized by overlapping features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and polymyositis/ dermatomyositis (PM/DM) and by the presence of antibodies against the U1 small nuclear ribonucleoprotein autoantigen (U1 snRNP). This condition was termed mixed connective tissue disease (MCTD) and proposed as a distinct disease. Later, after observing the clinical evolution of MCTD patients, Sharp himself agreed that the original concept of MCTD had to be modified and that Internal organs were at risk for serious complications; patients were not always steroid responsive; prognosis was not always benign. Materials and methods: Patients in the age group of 15-50 years diagnosed to have connective tissue diseases were included. 8 patients in the age group of 15-50 admitted in Medicine department were taken and they were evaluated for the clinical profile of sharp syndrome by thorough clinical examination, routine laboratory tests and special investigations depending on the clinical profile. Results: 8 patients with connective tissue disease attending the medicine OPD were studied. Of these 8 patients were female patients. The median age of onset was 36 years, 8 patients met criteria by sharp and Alarcon-Segovia. The clinical features of patients at presentation are Raynaud抯 phenomena, Puffy fingers, esophagus dysmotility, skin rash, interstitial lung disease, arthritis, pulmonary hypertension, myositis, anemia. Conclusion: SHARP syndrome is a rare condition, as evidenced by the small series of cases reported to date. Diagnosis is based on clinical and paraclinical criteria. The evolution can be interspersed with various complications that can affect the short, medium and long-term prognosis

Standardized diagnosis and treatment of undifferentiated connective tissue disease and mixed connective tissue disease / 中华内科杂志

Undifferentiated connective tissue disease (CTD) usually refers to patients who are presented with certain symptoms and signs related to CTD, and positive serological evidence of autoimmune diseases but don′t fulfill any of the classification criteria for a certain CTD. Mixed CTD refers to patients who are presented with one or more clinical manifestations such as hand swelling, synovitis, myositis, Raynaud′s phenomenon, and acrosclerosis. Patients with mixed CTD always have high-titer anti-nuclear antibodies (ANA) of speckled pattern and high-titer anti-U 1 ribonuclear protein (RNP) antibody in serum, while with negative anti-Sm antibody. The update of diagnosis and treatment of undifferentiated CTD and mixed CTD lags behind other established CTD. There is a lack of evidence from randomized controlled trials or guidelines/recommendations on the treatment of undifferentiated CTD or mixed CTD. At present, the conventional therapy is mainly adopted according to the specific clinical manifestations of the disease. The standardized diagnosis and treatment of undifferentiated CTD and mixed CTD were drafted by the Chinese Rheumatology Association based on the previous guidelines and the progress of available evidence, so as to improve the management of these patients in China.

Anca negative pauci-immune crescentic glomerulonephritis and mixed connective tissue disease: a case study / Glomerulonefrite crescêntica pauci-imune ANCA-negativa e doença mista do tecido conjuntivo: relato de um caso

Abstract One of the most common causes of rapidly progressive glomerulonephritis (RPGN) is pauci-immune crescentic glomerulonephritis (CrGN). In the majority of cases, this condition has a positive serologic marker, the anti-neutrophil cytoplasmic antibodies (ANCAs), but in approximately 10% there are no circulating ANCAs, and this subgroup has been known as the ANCA-negative pauci-immune CrGN. RPGN can be associated with systemic diseases, but there are only few case reports describing the association with mixed connective tissue disease (MCTD). The authors report a case of ANCA-negative CrGN associated with a MCTD.

Resumo Uma das causas mais comuns da glomerulonefrite rapidamente progressiva (GNRP) é a glomerulonefrite crescêntica (GNC) pauci-imune. Na maioria dos casos, a patologia apresenta um marcador sorológico positivo, o anticorpo anticitoplasma de neutrófilos (ANCA), mas em cerca de 10% dos pacientes não há ANCAs circulantes, perfazendo um subgrupo da patologia conhecido como GNC pauci-imune ANCA-negativa. A GNRP pode estar associada a doenças sistêmicas, mas são poucos os relatos de caso que descrevem sua associação com doença mista do tecido conjuntivo (DMTC). O presente artigo relata um caso de GNC ANCA-negativa associada a DMTC.

Pancreatitis y apendicitis aguda como complicación en una paciente con enfermedad mixta del tejido conectivo / Pancreatitis and acute appendicitis as a complication in a patient with mixed connective tissue disease

Introducción: la enfermedad mixta del tejido conectivo es una afección que incluye manifestaciones clínicas de diversas enfermedades reumáticas. Se caracteriza sobre todo por la presencia de afectación en todos los órganos y sistemas de órganos del cuerpo humano. Las complicaciones relacionadas con el aparato digestivo han sido señaladas como una de las que con mayor frecuencia se presentan. La pancreatitis y la apendicitis suelen presentarse de forma aislada, pero al presentarse al unísono complican más aún la evolución del paciente. Objetivo: dar a conocer los elementos clínicos, de laboratorio e imagenológicos que posibilitan llegar al diagnóstico de apendicitis y pancreatitis en una paciente con enfermedad mixta del tejido conectivo. Caso clínico: se presenta el caso de una paciente de 29 años de edad con diagnóstico de enfermedad mixta del tejido conectivo de 3 años de evolución que es remita al servicio de emergencia con elementos clínicos, de laboratorio e imagenológicos que permiten llegar al diagnóstico de una apendicitis y pancreatitis de presentación conjunta. Conclusiones: la enfermedad mixta del tejido conectivo es una enfermedad sistémica que cursa con una amplia variedad de manifestaciones clínicas y complicaciones. Los procesos agudos como la apendicitis y la pancreatitis suponen un peligro sobreañadido y un factor desencadenante de la actividad de la enfermedad(AU)

Introduction: mixed connective tissue disease is a condition that includes clinical manifestations of various rheumatic diseases. It is characterized above all by the presence of affectation in all organs and organ systems of the human body. Complications related to the digestive system have been identified as one of the most frequent. Pancreatitis and appendicitis usually occur in isolation, but when presented in unison, they complicate the evolution of the patient even more. Objective: to present the clinical, laboratory and imaging elements that make it possible to reach the diagnosis of appendicitis and pancreatitis in a patient with mixed connective tissue disease. Clinical case: the case of a 29-year-old patient with a diagnosis of mixed connective tissue disease of 3 years of evolution is presented, which is referred to the emergency service with clinical, laboratory and imaging elements that allow to reach the diagnosis of a appendicitis and pancreatitis of joint presentation. Conclusions: Mixed connective tissue disease is a systemic disease that presents with a wide variety of clinical manifestations and complications. Acute processes such as appendicitis and pancreatitis pose an added danger and a triggering factor in the activity of the disease(AU)

A evolução do diagnóstico da doença mista do tecido conjuntivo / Evolution of the diagnosis of mixed connective tissue disease

A Doença Mista do Tecido Conjuntivo (DMTC) é uma doença autoimune crônica composta por um misto de quatro doenças: Lúpus Eritematoso Sistêmico, Esclerose Sistêmica, Dermatomiosite/Polimiosite e Artrite Reumatoide. Por se tratar de uma combinação de doenças autoimunes o diagnóstico é bastante complexo. Atualmente existem quatro combinações sugeridas por diferentes autores para a realização de um diagnóstico preciso, são eles: Kasukawa, Alarcón-Segovia e Villareal, Kahn e Appeboom e Sharp. Desde a sua descoberta em 1972 por Sharp, passaram-se 46 anos e desta forma o objetivo desta revisão foi verificar a evolução do diagnóstico da DMTC desde a sua descoberta até a atualidade. Para isso utilizou-se sites de busca PUBMED e SCIELO. Por se tratar de uma doença autoimune que leva ao desenvolvimento de um quadro inflamatório crônico utilizou-se a ferramenta STRING que permite a análise da interação de proteínas. Até a presente data, não existe um consenso de qual critério deve ser usado para o diagnóstico correto e eficiente desta doença. A baixa relação de interações observadas a partir da ferramenta STRING demonstra que ainda não existem dados suficientes na literatura para que a ligação entre proteínas marcadoras e a DTMC possa ser estabelecida. (AU)

Mixed connective tissue disease (MCTD) is a chronic autoimmune disorder consisting of a mixture of four diseases: systemic lupus erythematosus, systemic sclerosis, dermatomyositis/polymyositis, and rheumatoid arthritis. Because it is a combination of different autoimmune disorders its diagnosis is quite complex. Currently there are four combinations suggested by the following authors to establish an accurate diagnosis: Kasukawa, Alarcón-Segovia & Villareal, Kahn, and Appeboom & Sharp. It has been 46 years since Sharp reported the disease in 1972 and thus the purpose of this review was to investigate the evolution of the diagnosis of MCTD since then. PubMed and SciELO databases were used for this investigation. Because MCTD is an autoimmune disease that leads to the development of a chronic inflammatory condition, the STRING tool was used to allow the analysis of protein interaction. To date, there is no consensus as to what criterion should be used for a correct and efficient diagnosis of this disease. The low ratio of interactions observed from the STRING tool demonstrates that there is not yet enough data in the literature for establishing the binding between marker proteins and MCTD. (AU)

Co-existent Mixed Connective Tissue Disease and Papillary Thyroid Cancer in a Patient with Primary Biliary Cirrhosis / 대한내과학회지

A 40-year-old female previously diagnosed with primary biliary cirrhosis was referred to the hospital complaining of muscle weakness, arthralgia, Raynaud's phenomenon, and thick skin. After work-up, she was diagnosed with both mixed connective tissue disease (MCTD) and papillary thyroid cancer (PTC), based on the Alarcon-Segovia criteria and pathological examination, respectively. High-dose glucocorticoid and azathioprine were introduced to treat active myositis of MCTD, and total thyroidectomy was performed to treat PTC. This report highlights the possible association between MCTD and thyroid cancer, and suggests that MCTD is associated with PTC, similar to other autoimmune diseases including Sjögren's syndrome, systemic sclerosis, and systemic lupus erythematosus.

Comparison of LOXL-2 Expression between Active Systematic Scleroderma and Active Mixed Connective Tissue Disease / 中国医科大学学报

Objective To investigate the expression of lysyl oxidase like protein?2(LOXL?2)in the sera of patients with active systemic scleroder?ma(SSc)and mixed connective tissue disease(MCTD). Methods An enzyme?linked immunosorbent assay was adopted to measure LOXL?2 in the serum of 20 patients with active SSc,20 patients with active MCTD,and 20 healthy controls. The measurements among different groups was com?pared,and correlations between LOXL?2 levels and clinical manifestations of SSc and MCTD were examined. Results The levels of LOXL?2 ex?pression in MCTD and SSc groups were significantly higher than those in control group(P<0.05 for all groups). LOXL?2 expression is also related to the presence of skin lesions in SSc(r=0.982 P=0.001). Conclusion High serum level of LOXL?2 in these patients with active SSc and active MCTD suggests that LOXL?2 may be involved in the process of fibrosis and the resulting vasculitis in multiple organs.

Mycobacterium chelonae cutaneous infection in a patient with mixed connective tissue disease

Around 50 mycobacteria species cause human disease. Immunosuppressive states predispose to non-tuberculous mycobaterium infection, such as Mycobacterium chelonae: AFB, non-tuberculous, fast growth of low virulence and uncommon as a human pathogen. It may compromise the skin and soft tissues, lungs, lymph nodes and there is also a disseminated presentation. The diagnosis involves AFB identification and culture on Agar and Lowenstein-Jensen medium base. A 41-year-old female with MCTD (LES predominance) is reported, presenting painless nodules in the right forearm. She denied local trauma. Immunosuppressed with prednisone and cyclophosphamide for 24 months. Lesion biopsy has demonstrated positive bacilloscopy (Ziehl-Neelsen stain) and M.chelonae in culture (Lowenstein-Jensen medium base), therefore clarithromycin treatment has been started (best therapy choice in the literature).

A Case of Bad Prognosis for Membranous Nephropathy in a Patient with Mixed Connective Tissue Disease

Incidence of renal involvement in mixed connective tissue disease (MCTD) is low. In the presence of glomerulonephritis, membranous nephropathy (MN) in MCTD is common. A 47-year-old woman presented with hypothyroidism. She developed Raynaud's phenomenon, arthralgia, and incomplete lupus erythematosus, diagnosed with MCTD. One year after then, the patient developed persistent proteinuria (1+) without hematuria. Following diagnosis with MCTD, her renal function began to deteriorate. The renal biopsy showed late stage MN. For the treatment of MN with mild proteinuria and MCTD, we prescribed an angiotensin II receptor blocker and 7.5 mg of methotrexate per week and 300 mg of hydroxychloroquine daily. The patient had a reduced estimated glomerular filtration rate of 55% for the subsequent eight years. The MN in MCTD is known to show good renal prognosis. Here, we report on a rare case of MN in MCTD in Korea with a bad prognosis.

Sjogren's syndrome: An underdiagnosed condition in mixed connective tissue disease

OBJECTIVE: To determine the prevalence of sicca symptoms, dry eye, and secondary Sjögren's syndrome and to evaluate the severity of dry eye in patients with mixed connective tissue disease. METHODS: In total, 44 consecutive patients with mixed connective tissue disease (Kasukawa's criteria) and 41 healthy controls underwent Schirmer's test, a tear film breakup time test, and ocular surface staining to investigate dry eye. In addition, the dry eye severity was graded. Ocular and oral symptoms were assessed using a structured questionnaire. Salivary gland scintigraphy was performed in all patients. Classification of secondary Sjögren's syndrome was assessed according to the American-European Consensus Group criteria. RESULTS: The patients and controls had comparable ages (44.7±12.4 vs. 47.2±12.2 years) and frequencies of female gender (93 vs. 95%) and Caucasian ethnicity (71.4 vs. 85%). Ocular symptoms (47.7 vs. 24.4%) and oral symptoms (52.3 vs. 9.7%) were significantly more frequent in patients than in controls. Fourteen (31.8%) patients fulfilled Sjögren's syndrome criteria, seven of whom (50%) did not have this diagnosis prior to study inclusion. A further comparison of patients with mixed connective tissue disease with or without Sjögren's syndrome revealed that the former presented significantly lower frequencies of polyarthritis and cutaneous involvement than did the patients without Sjögren's syndrome. Moderate to severe dry eye was found in 13 of 14 patients with mixed connective tissue disease and Sjögren's syndrome (92.8%). CONCLUSIONS: Sjögren's syndrome, particularly with moderate to severe dry eye, is frequent in patients with mixed connective tissue disease. These findings alert the physician regarding the importance of the appropriate diagnosis of this syndrome in such patients. .

Cutaneous mucinosis in mixed connective tissue disease* / Mucinose cutanea na doenca mista do tecido conjuntivo

Cutaneous mucinosis is a group of conditions involving an accumulation of mucin or glycosaminoglycan in the skin and its annexes. It is described in some connective tissue diseases but never in association with mixed connective tissue disease. This report concerns two cases of cutaneous mucinosis in patients with mixed connective tissue disease in remission; one patient presented the papular form, and the other reticular erythematous mucinosis. These are the first cases of mucinosis described in mixed connective tissue disease. Both cases had skin lesions with no other clinical or laboratorial manifestations, with clinical response to azathioprine in one, and to an association of chloroquine and prednisone in the other.

A mucinose cutânea é um grupo de condições em que há um acúmulo de mucina ou glicosaminoglicanos na pele e seus anexos. É descrita em algumas doenças do tecido conjuntivo, porem nunca em associação com doença mista do tecido conjuntivo. Relatamos dois casos de mucinose cutânea em pacientes com doença mista do tecido conjuntivo em remissão, um apresentava-se sob a forma papular e outro sob a forma reticular eritematosa de mucinose. Estes são os primeiros casos de mucinose descritos na doença mista do tecido conjuntivo. Ambos os casos apresentaram o quadro cutâneo de modo isolado, sem nenhuma outra manifestação clínico-laboratorial, havendo resposta à azatioprina em um e à cloroquina associada a prednisona no outro.

Immunogenicity of influenza H1N1 vaccination in mixed connective tissue disease: effect of disease and therapy

OBJECTIVE: To assess the potential acute effects regarding the immunogenicity and safety of non-adjuvanted influenza A H1N1/2009 vaccine in patients with mixed connective tissue disease and healthy controls. METHODS: Sixty-nine mixed connective tissue disease patients that were confirmed by Kasukawa's classification criteria and 69 age- and gender-matched controls participated in the study; the participants were vaccinated with the non-adjuvanted influenza A/California/7/2009 (H1N1) virus-like strain. The percentages of seroprotec-tion, seroconversion, geometric mean titer and factor increase in the geometric mean titer were calculated. The patients were clinically evaluated, and blood samples were collected pre- and 21 days post-vaccination to evaluate C-reactive protein, muscle enzymes and autoantibodies. Anti-H1N1 titers were determined using an influenza hemagglutination inhibition assay. ClinicalTrials.gov: NCT01151644. RESULTS: Before vaccination, no difference was observed regarding the seroprotection rates (p = 1.0) and geometric mean titer (p = 0.83) between the patients and controls. After vaccination, seroprotection (75.4% vs. 71%, (p = 0.7), seroconversion (68.1% vs. 65.2%, (p = 1.00) and factor increase in the geometric mean titer (10.0 vs. 8.0, p = 0.40) were similar in the two groups. Further evaluation of seroconversion in patients with and without current or previous history of muscle disease (p = 0.20), skin ulcers (p = 0.48), lupus-like cutaneous disease (p = 0.74), secondary Sjogren syndrome (p = 0.78), scleroderma-pattern in the nailfold capillaroscopy (p = 1.0), lymphopenia #1000/mm³ on two or more occasions (p = 1.0), hypergammaglobulinemia $1.6 g/d (p = 0.60), pulmonary hypertension (p = 1.0) and pulmonary fibrosis (p = 0.80) revealed comparable rates. Seroconversion rates were also similar in patients with and without immunosuppressants. Disease parameters, such as C-reactive protein (p = 0.94), aldolase (p = 0.73), creatine phosphokinase (p = 0.40) and ribonucleoprotein antibody levels (p = 0.98), remained largely unchanged pre and post-vaccination. No severe side effects were reported. CONCLUSIONS: The non-adjuvanted influenza A/H1N1 vaccination immune response in mixed connective tissue disease patients is adequate and does not depend on the disease manifestations and therapy.

A Case of Pediatric-onset Mixed Connective Tissue Disease Presenting Raynaud's Phenomenon Affecting Tongue, Hands, and Feet

Mixed connective tissue disease (MCTD) was first described by Sharp and coworkers in 1972, characterized by symptoms of Raynaud's phenomenon or swollen hands, overlapping clinical features of systemic lupus erythematosus, systemic sclerosis, or polymyositis/dermatomyositis, and the presence of anti-U1 RNP antibody. MCTD is rare in children and constitutes 0.3~0.6% of all rheumatologic patients in pediatric rheumatology database of the United States. Here, we report the first Korean case of a 10-year-old female patient with MCTD, presenting Raynaud's phenomenon in the hands, feet, and tongue.

A Case of Long-Segment Barrett's Esophagus with Mixed Connective Tissue Disease / 대한내과학회지

Barrett's esophagus is a metaplasia of the esophageal epithelium of any length, such that normal squamous epithelium is replaced by specialized columnar epithelium with goblet cells. It is important to diagnose and survey Barrett's esophagus because it is believed to be the major risk factor for development of esophageal adenocarcinoma. However, the prevalence of Barrett's esophagus in Korea is low. Mixed connective tissue disease (MCTD) is a systemic disorder in which patients have combinations of the clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis. Although gastroesophageal reflux disease is common in esophageal involvement in MCTD, long-segment Barrett's esophagus in MCTD has not been reported in Korea. We report here a 15 cm-long segment of Barrett's esophagus extending to the proximal esophagus in a female patient who has had MCTD for 2 years, and we review the literature.

Analysis of clinical features and efficacy of 44 cases of primary biliray cirrhosis-autoimmune hepatitis overlap syndrome / 中华消化杂志

ObjectiveTo analyze the long term efficacy and prognosis of ursodeoxycholic acid (UDCA) combined immunosuppressive therapy in primary biliary cirrhosis-autoimmune hepatitis overlap syndrome (PBC-AIH). Methods A total of 44 PBC-AIH cases were selected from 387 autoimmune liver diseases cases in The General Hospital of Tianjin Medical University from January 2001 to January 2011,and the medical data,treatments and efficacies were retrospective analyzed.ResultsThe serum levels of alanine aminotransferase (ALT),aspartate aminotransferase (AST),alkaline phosphatase (ALP),γ glutamyl transpeptidase (GGT) and total bilirubin (TBil) increased in different degrees in 44 PBC-AIH patients.Globulin or immunoglobulin G(IgG) increased in 84.09％(37/44) patients,immunoglobulin M(IgM) increased in 38.63％ (17/44) patients.The positive rate of antinuclear anti-body (ANA), anti-mitochondrial antibody (AMA)and anti-smooth muscle antibodies (SMA) was 97.73％,90.91％ and 11.36％,respectively. Pathological features were interface hepatitis and different degrees of intrahepatic bile ducl injuries. After UDCA combined immunosuppressant treatment,the remission rate was 61.36 ％ (27/44),the incomplete response rate was 29.55％ (13/44) and the treatment failure rate was 9.09％ (4/44).Six cases with remission withdrawal medicine,and the recurrence rate was 5/6.By the end of follow-up,the levels of ALT,AST,ALP,GGT and TBil significantly decreased in PBC-AIH patients compared with those before treatment.ALP,GGT,ALT and AST levels significantly decreased in the first 6 months while ALP and GGT showed slight upward trend at the end of follow up. The disease progression rate was 25.33％ in PBC-AIH patients (13/44) during the follow-up,and the 10 year survival rate was 93.33％ (28/30).ConclusionUDCA combined immunosuppressive therapy in PBC AIH treatment can significantly improve patients' blood biochemical indexes,delay disease progression,improve survival rate,and the remission rate is also high.However the recurrence rate is high after withdrawal of medicine.

A Case of Long-Segment Barrett's Esophagus with Mixed Connective Tissue Disease / 대한내과학회지

Barrett's esophagus is a metaplasia of the esophageal epithelium of any length, such that normal squamous epithelium is replaced by specialized columnar epithelium with goblet cells. It is important to diagnose and survey Barrett's esophagus because it is believed to be the major risk factor for development of esophageal adenocarcinoma. However, the prevalence of Barrett's esophagus in Korea is low. Mixed connective tissue disease (MCTD) is a systemic disorder in which patients have combinations of the clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis. Although gastroesophageal reflux disease is common in esophageal involvement in MCTD, long-segment Barrett's esophagus in MCTD has not been reported in Korea. We report here a 15 cm-long segment of Barrett's esophagus extending to the proximal esophagus in a female patient who has had MCTD for 2 years, and we review the literature.

Doença mista do tecido conjuntivo associada a hipertensão pulmonar no adolescente / Mixed connective tissue disease with lung hypertension in adolescent

Este relato tem como objetivo descrever o caso de uma adolescente com 12 anos de idade, que procurou atendimento no pronto-socorro de pediatria do Hospital Universitário de Brasília com queixa de artralgia difusa nos membros inferiores e prejuízo da marcha havia um ano. Com o exame físico e os exames complementares, com positividade de anticorpos anti-U 1-RNP, FAN, anti-La, foi caracterizada a doença mista do tecido conjuntivo e confirmada hipertensão pulmonar.

This report has the aim to describe the case of a 12 years old adolescent, female, admitted at the pediatric emergency unit of the University Hospital of Brasilia with the complaint of arthralgia in inferior members and gait disability. With the examination and laboratorial investigation, with positives antibodies anti-U1-RNP, FAN, anti-La, it was possible to stablish the diagnosis of mixed connective tissue disease and confirm lung hypertension.