Autoantibody Profile in Systemic Sclerosis as a Marker for Esophageal and Other Organ Involvement in Turkish Populations

Systemic sclerosis (SSc) is a connective tissue disorder of unknown etiology characterized by fibrosis and vascular obliteration in the skin, gastrointestinal tract, lungs, and heart. Our aim was to investigate the autoantibody profile in patients with esophageal involvement of SSc and to describe the relationship between the autoantibody profile and organ involvement in SSc. We studied 47 SSc patients, all with esophageal involvement shown on esophageal manometry. The patients were separated into three groups based on the absence or presence of ANA, Scl70, and ACA. In this study ANA and Scl70 were present more frequently than ACA in patients with esophageal involvement of SSc. Pulmonary involvement and heart involvement were seen more in Scl70-positive and ACA-positive patients, respectively. We conclude that in patients with SSc, closer follow-up with autoantibody profile may enable early diagnosis of specific organ involvement and treatment of debilitating symptoms, with avoidance of potential life-threatening complications.     

Pyoderma gangrenosum with hepatopancreatic manifestations in a patient with rheumatoid arthritis

Summary Pyoderma gangrenosum is a dermatological disease of unknown origin. We report the case of a 47-year-old woman with cutaneous lesions of pyoderma gangrenosum associated with hepaticopancreatic involvement. We found no other similar cases in the literature. The outcome was favorable with steroid therapy. She was free of symptoms after one year.     

Musculoskeletal sarcoidosis with a dermatologic clue for diagnosis: a case report

Sarcoidosis is a multisystem, inflammatory disorder characterized by infiltration of any organ with non-caseating granuloma. Clinical picture depends on which system(s) involved. Pulmonary, lymphatic and musculoskeletal systems are the most commonly affected systems. Skin is one of the frequently involved organs. Its involvement may provide a direct diagnostic clue. Here we have presented a young man with systemic sarcoidosis. The major complaint from him was the musculoskeletal pain. But the route to diagnosis starts from a lesion over the scalp.     

The development of a patient partnership programme and its impact on quality improvements in a comprehensive haemophilia care service

It has long been advocated that patient input in service quality development is essential. We have developed a model of quality evaluation and improvement within a comprehensive haemophilia service, and describe the issues and improvements that resulted from the process. The project utilized an action research methodology. Seven patients were recruited from the haemophilia service for the initial focus groups. The main themes initially explored were as follows: patient experience of the outpatient, inpatient and weekend services and provision of information. The focus group data were analysed using basic content analysis. The main themes the initial focus group identified were the need to optimize the annual review, emergency care and inpatient facilities. Following this, the haemophilia care team worked on improving these issues. At the second focus group the patients contributed at a higher level – patient participation. Patients assisted in addressing outstanding issues such as ID alert card content and the algorithm of care for emergency services. Finally, a patient panel was developed and the relationship became one of direct negotiation and partnership with the haemophilia team to address issues within the service. The expectations and needs of patients attending the haemophilia comprehensive care service are complex. The process of including patients as partners at the highest level of patient involvement evolved and proved an effective method of service evaluation and development, facilitating lateral decision‐making, not only improving care directly, but also improving the user experience.     

Clinical features of scleroderma patients with contracture of phalanges

Contracture of phalanges (CP) is a frequent complication of patients with systemic sclerosis (SSc). The objective of this study was to examine the prevalance of CP in patients with SSc and investigate the clinical and laboratory features of SSc patients with CP. Three hundred and fifty patients with SSc were examined. CP was found in 164 of the 350 patients (47%) with SSc. The prevalence of oesophageal involvement, pulmonary fibrosis or heart involvement was significantly greater in the patients with CP than that in those without CP. Our study suggested that the presence of CP may be a marker of oesophageal involvement, pulmonary fibrosis and heart involvement.     

Cardiac involvement in HIV-related non-Hodgkin's lymphoma: a case report and short review of the literature

 We report a case of secondary heart involvement in AIDS-related primary lymphoma of the liver. A worsening dyspnea led to the diagnosis of pericardial effusion, and transesophageal echocardiography revealed the presence of large endocardial ventricular masses. Clinical suspicion of a lymphomatous origin was confirmed at the autopsy, which showed an extranodal dissemination pattern (heart, liver, intestine, and lung). In AIDS patients, both primary and secondary lymphomatous heart involvement are increasing in incidence. Clinical symptoms and signs are vague. Since the hematogenous route is the most common pattern of involvement, even extrathoracic lymphomas can present heart dissemination. Thus, it should be suspected in lymphoma patients who present with even mild aspecific heart symptoms. Appropriate imaging procedures include transesophageal echocardiography and, if possible, ECG-gated MRI. A negative transthoracic echocardiograph does not exclude the presence of myocardial tumor. Chemotherapy is only occasionally beneficial, and the prognosis remains poor. Received: October 10, 1997 / Accepted: April 29, 1998     

Rituximab as a new therapeutic option in granulomatosis with polyangiitis: a report of two cases

Abstract

Findings of several reports suggest that rituximab, a chimeric monoclonal anti-CD20 antibody causing B-lymphocyte depletion, might represent a treatment option for people with granulomatosis with polyangiitis (GPA) (former Wegener’s granulomatosis). This study presents the results of rituximab treatment in two patients with treatment-refractory GPA. First patient received rituximab for a granulomatous posterior orbital mass lesion, and eye symptoms were resolved after three courses of treatment. The second patient had eye and paranasal sinus involvement and benefited from two courses of rituximab treatment, with significant clinical improvement. Rituximab may represent an effective novel treatment for remission induction in GPA.     

Exudative pericarditis in the evolution of a diffuse large B-cell lymphoma

Cardiac involvement in non-Hodgkin’s lymphoma is a rare occurrence with a dismal prognosis, which may evolve with different clinical presentations, the most frequent being heart failure. Diagnosis of cardiac involvement is generally made by cardiac ultrasound. We report a case of lymphomatous pericarditis in the evolution of a non-Hodgkin’s lymphoma, diagnosed by PET-CT scan, and occurring concomitantly with complete isotopic remission of enlarged mediastinal lymph nodes following chemotherapy.     

Juvenile dermatomyositis with a rare and remarkable complication: sinus bradycardia

Juvenile dermatomyositis (JDM) is characterized by proximal muscle weakness, vasculopathy of the skin and muscles, and typical skin rash. Approximately, 70% of adult patients with dermatomyositis have evidence of cardiac damage. However, cardiac involvement, one of the important causes of death, has been reported rarely in children with JDM. Here, we describe an 11-year-old boy who presented with bradycardia as a result of sinus node involvement due to JDM and recovered by the treatment of JDM without any specific drug for bradycardia.     

Spontaneous pneumothorax in Wegener's granulomatosis: a case report

Wegener's granulomatosis (WG) is a multiorgan system disease of unknown etiology characterized by granulomatous inflammation, tissue necrosis, and variable degrees of vasculitis in small- and medium-sized blood vessels. In patients with WG, the musculoskeletal system can be involved before other typical symptoms of the disease. Also in WG, pneumothorax can develop as a rare complication. In this paper, we report a case with WG who had early articular involvement in the absence of classic features of illness and had pneumothorax which resulted from the rupture of the sub-pleural nodule. The aim of this work is to increase the awareness of early articular involvement in WG and the pneumothorax possibility especially in cases with cavitated nodules closure to pleura. This case emphasizes that early diagnosis and treatment is very important in avoiding further complications.     

Cardiac involvement in Churg-Strauss syndrome: a follow-up of three cases

Three cases of Churg-Strauss syndrome with myocardial involvementare reported. Cardiac disease is known to be the major causeof death in Churg-Strauss syndrome. Aggressive therapy (steroidsand cyclophosphamide) may cure the myocardial dysfunction associatedwith the disease.     

Tissue Doppler and strain imaging: a new tool for early detection of cardiac amyloidosis

Using traditional echocardiography, the diagnosis of cardiac amyloidosis (CA) is often only possible in advanced stage when recommended therapies may have adverse effects. The aim of our study was to evaluate whether additional information can be derived from Tissue and strain Doppler imaging (TDI and SDI). Forty patients with systemic amyloidosis and 24 healthy subjects underwent traditional, tissue and strain Doppler echocardiography. Patients were classified having CA if mean wall thickness (mT), was half of the sum septum and posterior wall thickness, was ≥12 mm. The following parameters were evaluated: peak early diastolic velocity (Em) as index of ventricular relaxation, mitral E-wave to Em ratio (E/Em) as index of left ventricular (LV) filling pressure and mean LV strain peak curves (mSt) as global long-axis contraction index. In non cardiac amyloidosis (NCA), both Em and mSt were lower than in age matched controls (p < 0.01, p < 0.05, respectively) and higher than in CA (p < 0.01 and p < 0.01, respectively). Both Em and mSt were related to mT (p < 0.001). A significant (p < 0.01) nonlinear relation was observed between plasma terminal of pro B-natriuretic peptide and mT, Em, E/Em and mSt. TDI and SDI are able to detect amyloid myocardial involvement in such an early stage that cannot be evidenced by using traditional echocardiography.     

Value of small percutaneous bone biopsy in staging lymphoma; experience in a regional hospital

Summary. A single small percutaneous bone biopsy was obtained in 107 untreated patients with lymphoma as part of staging. Six out of 52 cases of Hodgkin's disease had positive bone biopsies and three of these relapsed. In 55 patients with non-Hodgkin lymphoma, nine out of 16 with nodular lymphocytic disease and only 12 of 39 with diffuse disease, had positive biopsies. The incidence of relapse and deaths over the time studied was not clearly related to the biopsy results. The results are similar to findings in other series where a larger bone sample was obtained. The value of a single small bone biopsy in lymphoma seems established.     

Cardiac involvement in a case of juvenile dermatomyositis with positive anti-melanoma differentiation associated protein 5 antibody

Juvenile dermatomyositis (JDM) is an autoimmune disease characterized by muscle weakness and specific skin lesions, as well as non-muscular involvement such as interstitial lung disease (ILD), cardiac involvement and arthritis. Anti-melanoma differentiation-associated protein 5 (anti-MDA5)-positive JDM patients are typically characterized by the presence of skin ulcers and rapidly progressing ILD (RP-ILD). Although cardiac involvement is not an expected involvement in anti-MDA5-positive JDM cases, it is significant because it can be fatal. In this report, an anti-MDA5 myositis-specific autoantibody-positive JDM case referred with the diagnosis of psoriatic arthritis in whom cardiomyopathy and arrhythmia were detected in follow-up is presented. Since cardiac involvement is associated with mortality, it would be useful to follow up anti-MDA5 positive patients for cardiac involvement in addition to lung involvement. Tofacitinib is a promising treatment option in treatment-resistant JDM.     

托法替布治疗白塞病心脏大血管受累的疗效及安全性

目的探索托法替布(tofacitinib,TOF)治疗难治性血管白塞病的疗效和安全性。方法分析北京协和医院2018年5月至2020年2月5例使用托法替布治疗难治性白塞病大血管和心瓣膜受累患者的临床资料。记录联合应用托法替布前后糖皮质激素和免疫抑制剂种类和剂量、红细胞沉降率(erythrocyte sedimentation rate,ESR)和超敏C反应蛋白(high-sensitivity C-reactive protein,hsCRP)水平、影像学变化。结果5例患者(男性3例,女性2例),平均年龄(42.8±13.0)岁,中位病程72(60,264)月。大血管受累3例,均有多发动脉狭窄和闭塞,2例同时存在腹主动脉假性动脉瘤,1例并发静脉血栓;主动脉和心瓣膜受累2例,主要表现为升主动脉及主动脉根部扩张导致的重度主动脉瓣关闭不全;5例均有血管介入/心脏瓣膜手术史,其中3例有多次手术史。使用托法替布前,5例患者经激素联合多种免疫抑制剂治疗疗效不佳,病情进展,新发大血管病变或术后并发症。联合应用托法替布5~10 mg/d,随访(10.6±7.7)个月,5例患者的临床症状均有所改善,无新发血管病变,主动脉和瓣膜受累的2例患者病情平稳,心功能恢复。炎症指标显著下降,ESR由21(7,101)mm/h降至5(1,11)mm/h(P=0.028),hsCRP由21(1.24,67)mg/L降至0.5(0.32,1.3)mg/L(P=0.018)。泼尼松剂量由8.5(5~10)mg/d减至6.5(2.5~10)mg/d,环磷酰胺均得以减量,4例实现托法替布减量。无明显药物不良反应。结论对难治性大血管和心瓣膜受累的白塞病,联合使用托法替布有助于稳定病情,降低炎症反应,减少术后并发症和激素用量,耐受性较好。