Systemic sclerosis/scleroderma: a treatable multisystem disease

Systemic sclerosis (systemic scleroderma) is a chronic connective tissue disease of unknown etiology that causes widespread microvascular damage and excessive deposition of collagen in the skin and internal organs. Raynaud phenomenon and scleroderma (hardening of the skin) are hallmarks of the disease. The typical patient is a young or middle-age woman with a history of Raynaud phenomenon who presents with skin induration and internal organ dysfunction. Clinical evaluation and laboratory testing, along with pulmonary function testing, Doppler echocardiography, and high-resolution computed tomography of the chest, establish the diagnosis and detect visceral involvement. Patients with systemic sclerosis can be classified into two distinct clinical subsets with different patterns of skin and internal organ involvement, autoantibody production, and survival. Prognosis is determined by the degree of internal organ involvement. Although no disease-modifying therapy has been proven effective, complications of systemic sclerosis are treatable, and interventions for organ-specific manifestations have improved substantially. Medications (e.g., calcium channel blockers and angiotensin-II receptor blockers for Raynaud phenomenon, appropriate treatments for gastroesophageal reflux disease) and lifestyle modifications can help prevent complications, such as digital ulcers and Barrett esophagus. Endothelin-1 receptor blockers and phosphodiesterase-5 inhibitors improve pulmonary arterial hypertension. The risk of renal damage from scleroderma renal crisis can be lessened by early detection, prompt initiation of angiotensin-converting enzyme inhibitor therapy, and avoidance of high-dose corticosteroids. Optimal patient care includes an integrated, multidisciplinary approach to promptly and effectively recognize, evaluate, and manage complications and limit end-organ dysfunction.     

系统性硬化症患者血浆7种miRNA水平与脏器累及和临床指标的相关性

目的 检测系统性硬化症患者血浆microRNA(miRNA)的相对表达量,分析其与患者临床指标的相关性.方法 选取49例系统性硬化症患者和同期体检健康者20例,采集静脉血,用实时荧光定量PCR(qRT?PCR)检测血浆中7种miRNA(miR?140?5p、miR?21、miR?142?3p、miR?29a、miR?9...     

系统性硬化症肺损害52例临床分析

分析52例系统性硬化症患者肺部病变,包括4例尸检,42例(80.8%)有不同程度的胸部X线异常,32例(61.5%)有明显肺纤维化征象,5例无肺间质纤维化而以肺动脉高压和(或)心衰为突出表现.死亡14例均有明显的心、肺受累,死亡大多与肺部感染有关.52例中有6例伴发恶性肿瘤.     

Respiratory manifestations of systemic disease. 3. Neurologic, skeletal, dermatologic, gynecologic, and gonadal diseases and disorders of pregnancy

Many nonpulmonary diseases may present with respiratory manifestations or may involve the lungs later in the disease course. The mechanisms by which such involvement occurs are almost as diverse as the diseases themselves and include the following. Hematogenous spread of disease is one of the most common mechanisms of lung involvement, for example, lung involvement by metastatic malignant disease. Cytotoxic factors from another anatomic location may be deposited in the alveolar basement membranes and cause pulmonary damage, for example, pulmonary hemorrhage associated with Goodpasture's syndrome. The pulmonary vasculature may prominently manifest generalized disease, as frequently occurs in Wegener's granulomatosis. Toxins accumulated as a result of disease in another organ system may damage the alveolar capillaries and result in pulmonary edema, as can occur in patients with severe azotemia due to renal failure. Depletion of lung surfactant as a consequence of disease in another organ system may produce alveolar collapse and respiratory failure; a disease that can have this effect is acute pancreatitis. The lungs may be the first organs to exhibit, through unknown mechanisms, underlying systemic diseases such as the collagenoses. Humoral factors released in another anatomic site may cause pulmonary problems; for example, bronchospasm may develop in patients with carcinoid of the intestine as a result of serotonin released by the tumor. Injury to another organ system can produce lung damage by complex mechanisms; an excellent example is the occasional development of neurogenic pulmonary edema in patients with trauma to the brain.(ABSTRACT TRUNCATED AT 250 WORDS)     

系统性硬化症肺部病变的临床特征及病理特点

目的 :了解系统性硬化症 (SSc)患者肺部病变的临床特征及病理特点。方法 :对确诊的 6 8例 SSc进行回顾性临床分析。结果 :5 7例 (83.8% )有程度不同的胸部 X线异常 ,4 4例 (6 4 .7% )有明显肺纤维化征象 ,5例无肺纤维化征象而以肺动脉高压和 (或 )心衰为突出表现。14例死亡主要原因为呼吸衰竭及心功能不全。6 8例中有 6例伴发恶性肿瘤。结论 :SSc肺损害发生率高 ,肺纤维化和肺功能不全进程与患者预后密切相关。     

系统性硬化新进展

系统性硬化(systemic sclerosis,SSc)是一种原因不明的复杂的系统性结缔组织病,系统性硬化有多种亚型,它们的临床表现和预后各不相同。虽然已表明SSc发病主要是由于血管炎和纤维化异常,应用血管抑制制剂可以缓解诸如硬皮病肾危象、继发肺动脉高压等病情,近几年随着对SSc发病机制的进一步研究,发现了一些治疗新视点,本文就SSc这些新进展做一综述。     

Hepatobiliary tuberculosis: a review of presentations and outcomes

Hepatobiliary tuberculosis (HTB) is uncommon and can be difficult to diagnose. We present our experience with HTB (over a 10-year period). Fourteen patients were identified from a total of 1888 cases of tuberculosis (TB) infection during this period. Five patients had isolated organ involvement [hepatic (n=3) and biliary (n=2)], and 9 had multiorgan involvement [2 organs (n=7) and 3 organs (n=2)]. The overall annual incidence ranged from 0.0% to 1.05% of all TB infections. Common clinical presentations were weight loss (64%), loss of appetite (64%), abdominal pain (57.1%), fever (50%), jaundice (42.3%), and abdominal distension (14.3%). The median delay from symptom onset to presentation was 40.5 days (range, 7-730 days), and from first presentation to diagnosis was 15 days (range, 1-420 days). Malignancy was initially suspected in 86%. Chest radiographic changes consistent with pulmonary TB were seen in 29% (n=4). Two had active pulmonary TB. Adverse effects of treatment occurred in 42.9%, mainly drug-induced hepatitis and nonspecific gastrointestinal symptoms. Three patients with biliary involvement required long-term biliary stenting. The overall mortality was 14%. In conclusion, HTB is uncommon and is often associated with other organ involvement. Presentation is often delayed, which may lead to significant morbidity and mortality.     

硬皮病皮肤硬化程度评估方法及其技术进展

硬皮病是一种以成纤维细胞增殖、胶原合成增多、皮肤增厚和硬化为主要表现,并可以引起多系统损害的结缔组织病,发病机制复杂.皮肤硬化是硬皮病普遍的标志性病变.早期快速进展的弥漫性皮肤硬化与内脏受累和死亡率升高相关,皮肤硬化的改善则提示病情缓解和较好的预后.但是目前皮肤硬化缺乏敏感而特异的客观评价方法,进而限制了医师对硬皮病疗...     

Gastrointestinal manifestations of systemic sclerosis: An updated review

Systemic sclerosis is an autoimmune disease characterized by vascular disease, fibrosis of the skin, and internal organ dysfunction. Gastrointestinal involvement is the most frequent complication of internal organs, impacting up to 90% of patients. Gastrointestinal involvement can affect any region of the gastrointestinal tract from the mouth to the anus, with a predominance of disorders being observed at the level of the upper digestive tract. The gastrointestinal involvement primarily involves the esophagus, small bowel, and rectum. The severity of gastrointestinal involvement affects quality of life and is a marker of worse prognosis and mortality in these patients. In this review, we describe the current findings regarding gastrointestinal involvement by this entity.     

Cerebral infarction caused by systemic sclerosis: a case report

Systemic sclerosis, also known as scleroderma, is a rare multisystem autoimmune disease characterized by vascular lesions caused by collagen deposition in the skin and viscera and damage to the endothelium. Endothelial injury and microvascular occlusion result in Raynaud’s phenomenon, finger ischemia, pulmonary hypertension, and scleroderma renal crisis. Scleroderma itself is a rare disease with an incidence ranging from 0.1 to 14 per 100,000 people in the general population. Cerebral involvement is not considered a common manifestation of systemic sclerosis, although studies have shown that the brain can be involved. Therefore, to deepen the understanding of this disease, we herein report a case of cerebral infarction associated with systemic sclerosis.     

Disseminated Rhodococcus equi infection in a kidney transplant patient without initial pulmonary involvement

Rhodococcus equi is increasingly recognized as an opportunistic pathogen in solid organ transplant recipients. Primary pulmonary involvement is the most common finding. We report a case of a 42-year-old female kidney transplant recipient who developed multiple disseminated abscesses caused by R. equi while on adequate antimicrobial therapy. The patient presented with subcutaneous abscesses in the hip region and mamma and had 2 intracerebral abscesses. There were no clinical and radiologic signs of pulmonary involvement in contrast to most clinical cases described in the literature. R. equi was cultured from all abscesses. The patient died of progressive neurologic complications. Post mortem examination confirmed infection with R. equi and showed microscopic evidence of necrotizing pneumonia. This report shows that R. equi should be considered as a cause of infection in solid organ transplant recipients even without initial clinical and radiologic signs of pulmonary involvement. Despite adequate therapy, the outcome can be fatal.     

My Approach to the Treatment of Scleroderma

Systemic sclerosis (scleroderma) is unique among the rheumatic diseases because it presents the challenge of managing a chronic multisystem autoimmune disease with a widespread obliterative vasculopathy of small arteries that is associated with varying degrees of tissue fibrosis. The hallmark of scleroderma is clinical heterogeneity with subsets that vary in the degree of disease expression, organ involvement, and ultimate prognosis. Thus, the term scleroderma is used to describe patients who have common manifestations that link them together, whereas a highly variable clinical course exists that spans from mild and subtle findings to aggressive, life-threatening multisystem disease. The physician needs to carefully characterize each patient to understand the specific manifestations and level of disease activity to decide appropriate treatment. This is particularly important in treating a patient with scleroderma because there is no treatment that has been proven to modify the overall disease course, although therapy that targets specific organ involvement early before irreversible damage occurs improves both quality of life and survival. This review describes our approach as defined by evidence, expert opinion, and our experience treating patients. Scleroderma is a multisystem disease with variable expression; thus, any treatment plan must be holistic, yet at the same time focus on the dominant organ disease. The goal of therapy is to improve quality of life by minimizing specific organ involvement and subsequent life-threatening disease. At the same time the many factors that alter daily function need to be addressed, including nutrition, pain, deconditioning, musculoskeletal disuse, comorbid conditions, and the emotional aspects of the disease, such as fear, depression, and the social withdrawal caused by disfigurement.     

Cardiovascular manifestations of acute pancreatitis

Acute pancreatitis (AP) is an acute inflammatory process of the pancreas that is associated with variable involvement of pancreatic/peripancreatic tissue and one or more organ systems in varying degrees. Among the multiple organ system dysfunctions in severe AP, cardiovascular and/or pulmonary manifestations are frequent. The cardiovascular system may be affected alone or with other organ systems in all stages of AP. Abnormalities of cardiac rhythm, contractility, and vasomotor tone of peripheral vessels are common cardiovascular manifestations. The pathogenetic factors of cardiac manifestations include hypovolemia and metabolic disturbances (eg, hyperkalemia, hypomagnesemia, and hypophosphatemia). Clinically, patients present with hypotension, tachycardia, and signs of systemic inflammatory response syndrome (high cardiac index, significant pulmonary shunting, decreased systemic vascular resistance, and decreased myocardial contractility). Approximately 50% of patients with AP have electrocardiographic changes, most commonly T-wave flattening and ST-segment depression. Many of the cardiac manifestations in AP are reversible with appropriate management. In AP, early onset of either multi-organ dysfunction or a sustained single-organ dysfunction is associated with poor outcome. This review highlights cardiac manifestations of AP relevant to clinical practice.     

Systemic sclerosis: different subsets and disease remitting drugs

Systemic sclerosis(scleroderma) is a generalized disorder of connective tissue characterized clinically by thickening and fibrosis of the skin and distinctive forms of involvement of internal organs notably the heart, lungs, kidneys and the gastrointestinal tract. Systemic sclerosis is a complicated disease with wide variation of manifestations and outcomes. It ranged from a disease which is extremely mild hardly effecting someone's life to one that is very severe causing an early demise. We describe different subsets of this complicated disease which allows physicians to have better understanding of its prognosis and outcome. Serum autoantibodies are useful in predicting prognosis, since they have association with serious visceral disease. Recently, laboratory studies are helpful both in identifying organ system abnormalities and the scleroderma specific autoantibodies. These autoantibodies are potentially very important in identifying subsets of patients. Using physical and serologic findings, the physician can determine the specific problems which are need to be addressed and treated.     

The amyotrophic lateral sclerosis center: a model of multidisciplinary management

Amyotrophic lateral sclerosis (ALS) is a devastating, progressive motor neuron disorder that poses a myriad of clinical problems. Patients who have ALS are best cared for in a multidisciplinary fashion, with involvement of clinicians from various specialties, including neurology, physical medicine and rehabilitation, pulmonary medicine, clinical nurse specialists or nurse practitioners, physical and occupational therapists, speech language pathologists, dietitians, psychologists, social workers, and case managers. This article provides a summary of the current research into the rehabilitation of ALS, including the role of exercise, spasticity management, mood disorders, pain, and palliative care.     

Dermatomyositis as a systemic disease

Dermatomyositis is a classic example of a disease that has both cutaneous and systemic manifestations. The skin and muscle disease are described as well as the possible systemic manifestations including overlap syndromes, joint symptoms, pulmonary disease, and other internal organ involvement. The association with pregnancy is also discussed.     

Computed tomographic features of abdominal tuberculosis: unmask the impersonator!

Purpose

Abdominal tuberculosis (ATB) mimics various infectious, inflammatory, and neoplastic conditions and hence requires a high index of suspicion for accurate diagnosis, especially in low prevalence areas. It is difficult to consistently establish a histopathological diagnosis of ATB which underlines the importance of supportive evidences for institution of prompt empirical therapy to prevent associated morbidity and mortality.

Methods

We retrospectively evaluated clinical and imaging features of 105 ATB cases and classified their CT findings based on peritoneal, lymph node, bowel, and solid organ involvement. Concomitant pulmonary and extra-pulmonary involvement was assessed.

Results

Abdominal pain (78.1%) followed by fever (42.9%) were the commonest presenting symptoms. Peritoneal TB (77.14%) most commonly presented with a mix of ascites (49.38%), peritoneal (28.40%), and omental involvement (27.16%). Lymphadenopathy (57.1%) most commonly presented as necrotic nodes (81.67%) at mesenteric, peripancreatic, periportal, and upper paraaortic regions. Commonest site of bowel involvement (cumulative of 62.85%) was ileocecal region, with the commonest pattern of involvement being circumferential bowel wall thickening without bowel stratification with mild luminal narrowing. Hepatic (13.33%) and splenic (16.2%) involvement predominantly presented as multiple microabscesses. Adrenal and pancreatic involvement was noted in 4.7% and 1.9% of patients, respectively. 38.1% patients showed concomitant pulmonary and extra-pulmonary TB.

Conclusion

ATB has varied radiological features; however, peritoneal involvement in the form of mild ascites, smooth peritoneal thickening, smudgy omentum, multi-focal bowel involvement, necrotic nodes, and multiple visceral microabscesses point towards a diagnosis of ATB in appropriate clinical setting.

     

婴幼儿轮状病毒肠炎肠道外多器官损害的临床研究

目的 探讨婴幼儿ＨＲＶ肠炎患儿肠道外多器官损害状况及其与预后的关系。方法 采用前瞻性调查方法,对１２０例ＨＲＶ肠炎患儿呼吸、心、肝、肾、脑及胰的临床损害及其与预后的关系进行分析。结果（1）HRV肠炎的肠道道外器官损害中,1个器官损害发生率为18.33%（22/120）,2个器官损害的发生率为45.83%(55/120）,3个器官损害的发生率为12.50%(15/120)。4个器官损害的发生率为11.66%(14/120）;（2）HRV肠炎的肠道外器官损害中,以呼吸系统最多,占88.33%(106/120),其次是心脏,占65,83%(79/120）,肝、肾分别为24.16%(29/120)和12.50%(15/120),胰、脑占的比例最少,分别为3.33%(4/120)和2.50%(3/120);（3）肠道外器官损害多随腹泻症状的好转而逐渐恢复正常。结论 （1）HRV肠炎的肠道外多器官损害拓临床上比较多见,并以2个器官损害的发生率最多;（2）HRV肠炎的肠道外器官损害中,以呼吸系统最多,提示HRV肠炎患儿可能先有呼吸系统感染,后经血行播散到肠道及身体其他器官;（3）HRV腹泻患儿的肠道外损害多数症状轻微,为一过性损害,很少引起严重后果。     

Evaluation of cardiac laboratory markers in patients with systemic sclerosis

OBJECTIVES: Myocardial involvement is frequent in systemic sclerosis, but symptoms are usually delayed and non-specific, thus often misrecognized. The aim of this study was the evaluation of the early subclinical cardiac involvement in patients with systemic sclerosis by means of non-invasive laboratory cardiac markers. DESIGN AND METHODS: Cardiac troponin T (cTnT), ischemia modified albumin (IMA) and NT-prohormone-brain natriuretic peptide (NT-proBNP) were measured in 40 female patients with systemic sclerosis and in 40 matched healthy controls. RESULTS: Patients with systemic sclerosis displayed significantly increased concentrations of serum IMA (106 versus 93.5 kunits/l, P < 0.0001) and NT-proBNP (89 versus 37 pg/ml, P < 0.0001), whereas no significant differences could be observed in both IMA and NT-proBNP values in limited versus diffuse pattern of disease. CONCLUSIONS: The increased levels of NT-proBNP and IMA could be considered a sign of early myocardial involvement, warranting further heart examination and a regular follow-up.     

Treatment of Wegener's granulomatosis with immune globulin: CNS involvement in an adolescent female.

OBJECTIVE: To describe the use of intravenous immune globulin (IVIG) to treat Wegener's granulomatosis (WG) in an adolescent female with an abnormal magnetic resonance imaging (MRI) scan and electroencephalogram (EEG), as well as central nervous system involvement manifesting as generalized seizures. CASE SUMMARY: A 15-year-old white girl diagnosed with WG and receiving prednisone and cyclophosphamide was admitted with new-onset tonic-clonic seizures. The patient received phenobarbital and phenytoin to control seizures and was receiving cyclophosphamide and corticosteroids for WG. She developed cyclophosphamide-induced cystitis and was started on a four-day therapeutic course of IVIG following the discontinuation of cyclophosphamide. After 16 days of hospitalization, repeat EEG and MRI were within normal limits, and laboratory and clinical improvement was evident in at least nine of the affected organ systems including pulmonary, hematologic, renal, ocular, cutaneous, musculoskeletal, central nervous system, gastrointestinal, and genitourinary. The patient was discharged with clinical involvement of WG documented in two organ systems, hematologic and renal. DISCUSSION: WG is a form of vasculitis believed to develop due to an autoimmune disorder. The diagnosis is based on radiographic and histopathologic findings, as well as the presence of elevated antineutrophil cytoplasmic antibodies and a suggestive clinical presentation. The presentation is widely variable and is most commonly associated with upper-airway involvement such as sinusitis, cough, pulmonary infiltrates, and cavitary nodules. Renal involvement signifies generalized disease. Conventional treatment for WG includes cyclophosphamide and prednisone. Little information is available describing therapeutic alternatives. Cytotoxicity related to immunosuppressant regimens limits continuous treatment and may necessitate the use of alternative agents. CONCLUSIONS: This case describes the use of IVIG in an adolescent patient presenting with WG as a generalized, active disease with neurologic complications. IVIG may be useful in generalized, active WG complicated by intolerance to cyclophosphamide and seizures, but further study is necessary to define its role.