Rapid eye movement related obstructive sleep apnea: Where do we stand?

Rapid eye movement (REM) related obstructive sleep apnea (OSA) is defined by the presence of episodes of apnea or hypopnea predominantly or exclusively during REM sleep. Epidemiology of this disorder shows a complex interaction with age, sex, and body mass index. The prevalence is variable and depends on the criteria used to define this disorder. Moreover, the clinical significance of this entity remains poorly defined. However, episodes of apnea or hypopnea encountered during REM sleep are longer and are associated with a more profound drop in oxygen saturation than non-REM sleep. Likewise, this disorder may be independently associated with hypertension and poor glycemic control. More importantly, positive airway pressure therapy as currently prescribed may not treat the majority of apnea episodes during REM sleep. The treatment is further complicated by the different definitions used for the diagnosis of this disorder and the lack of consensus if patients with this diagnosis should be treated if their overall apnea-hypopnea index does not meet the threshold for the clinical diagnosis of OSA. The definition and treatment used for the diagnosis and management of REM-related OSA needs to be standardized. Moreover, a consensus needs to be developed as to whether patients with this disorder should be treated if their overall apnea-hypopnea index does not meet the threshold for the clinical diagnosis of OSA. Further investigation may help answer if this disorder is independently associated with neurocognitive and cardiometabolic adverse outcomes and help guide the therapeutic approach.     

The adult with repaired coarctation of the aorta

Coarctation of the aorta is a common congenital lesion that may often be repaired or intervened upon early in life. The management of patients with this disorder revolves around the concept that although the coarctation may be treated, what remains is a diffuse systemic cardiovascular disorder. Careful clinical care and investigation is required to reduce morbidity from recurrent disease and residual lesions. The natural and modified history of the disorder is reviewed. This article focuses on the clinical care of adults with repaired coarctation and includes a review of clinical goals and investigation as well as indications for reintervention.     

Systemic mastocytosis

Opinion statement Systemic mastocytosis is a rare clinical disorder characterized by the proliferation of mast cells, which are commonly in the skin but may be found in other body sites as well. Mast cells contain chemically active substances that, on release, produce symptoms associated with the disease. The intent of this review is to provide some insight into the clinical nature of this disorder.     

Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity

Tumoral calcinosis is a rare inherited metabolic disorder characterized by hyperphosphatemia, elevated serum 1,25-dihydroxyvitamin D levels and periarticular cystic and solid calcifications. Based on previous investigations, the inheritance of this disorder has been postulated to be autosomal recessive. This interpretation was based on finding clinically affected subjects in only single generations of kindreds. We investigated four generations of an affected kindred and found nine subjects with the disease. A unique dental lesion which is specific for this disorder and serves as a phenotypic marker was identified in two generations of the kindred. In all affected subjects, elevated serum 1,25-dihydroxyvitamin D levels were found, although each member did not have the classical clinical findings of tumoral calcinosis. The possibility that this disorder may be variably expressed and have multiple formes frustes has not been previously considered. Using the unique dental lesion as well as the classical clinical and biochemical abnormalities, we found that in this kindred, tumoral calcinosis is transmitted in an autosomal dominant mode, with variable clinical expressivity.     

Utilization of residential alcoholism treatment in bipolar disorder

Despite the high prevalence rate of comorbid alcohol dependence and bipolar disorder, little is known about how many bipolar patients are actively engaged in addiction treatment or the alcohol consumption characteristics of this group. This retrospective study reviewed the medical records from patients with alcohol dependence admitted to residential treatment at our institution (n = 588). The analyses focused on alcoholism severity measures and discharge clinical diagnoses. Patients with alcoholism + bipolar disorder compromised only 5% of the total study group. The number of drinking years was lower for patients with alcoholism + bipolar disorder (23.1 ± 17.7) than for those with alcoholism + depression (26.8 ± 13.9) or alcoholism alone (28.1 ± 13.2). A trend of higher mean lifetime maximum daily drinks was observed for patients with alcoholism + bipolar disorder; this was because of the significantly higher maximum drinks for women with bipolar disorder (21.0 ± 11.5) than for women in other diagnostic groups. Despite high rates of comorbidity in community-based studies, this retrospective study suggests that patients with bipolar disorder are not highly represented in residential alcoholism addiction treatment. Future studies are encouraged to better understand utilization rates of addiction treatment among patients with bipolar disorder and to identify clinical correlates that predispose bipolar women to high-dose drinking.     

Gastroesophageal reflux in the pediatric patient

Gastroesophageal reflux in the pediatric patient is a functional disorder with unique clinical presentations and management issues compared with the same disorder seen in adults. The goal of this article is to critically review our present knowledge regarding pediatric gastroesophageal reflux and to provide some perspective on how to evaluate and manage the individual patient.     

Central nervous system disease in Sj?gren's syndrome. New insights into immunopathogenesis.

Although peripheral nervous system disease is a well-established complication of primary Sj?gren's syndrome (SS), until relatively recently little attention has been focused on the central nervous system (CNS) complications of this disorder. The observations discussed in this article pertain to patients with primary SS in whom the presence of a second connective tissue disorder and other etiologies for neurologic disease have been rigorously excluded. In this article, the growing clinical spectrum of CNS manifestations, neurodiagnostic techniques, serologic analyses, and immunogenetic markers associated with this disorder are reviewed.     

Research and clinical challenges in paediatric inflammatory bowel disease

Inflammatory bowel disease in childhood has become the subject of intense scientific debate during the last two decades, when there has been a significant rise in its incidence. There is a commonly agreed view that the disorder in children has peculiarities both in terms of underlying mechanisms and clinical management. This review highlights the emerging pathophysiologic concepts and clinical issues in paediatric inflammatory bowel disease and their effects on the management of children with this disorder are discussed. Particular emphasis is given to the link between the improvement of the research in the pathogenetic mechanisms and the development of novel therapeutic strategies able to promote a change in the natural course of the disorder.     

AUTOIMMUNE HEMOLYTIC ANEMIA: CURRENT CONCEPTS

Autoimmune hemolytic anemia (AIHA) is one end of a spectrum of clinical and serological disorders resulting from an autoimmune attack against red cells. Although the etiology of this disorder is far from firmly established, the pathogenesis of red cell destruction by the effector mechanisms of the immune system is well characterised and correlates well with the clinical and serological features of this disorder. Direct antiglobulin test (DAGT) negative AIHA, production crises, AIHA in children and following alpha methyldopa therapy are subgroups of AIHA which have recently been described or more clearly defined and understood. The addition of high dose immunoglobulin and danazol as well as the potential use of more novel approaches to the traditional triad of corticosteroids, splenectomy and immunosuppressive agents has expanded and increased the flexibility of the therapeutic options in this disorder.     

Clinical characteristics of idiopathic portal hypertension

Idiopathic portal hypertension is one of the interesting causes of portal hypertension. Even in very developed medical centers, this disorder is still one of the most important misdiagnoses of clinical practice. To inexperienced physicians, presenting esophageal varices and upper gastrointestinal bleeding usually prompt an unfortunate diagnosis of cirrhosis. A heterogenous clinical presentation and progression of this disorder should be recognized by physicians, and management should be directed towards some specific problems confined to this disorder. Although a genetic basis and other factors are implicated in its pathogenesis, exact underlying mechanism（s） is （are） unknown. In this review, we discuss the heterogeneity of idiopathic portal hypertension, its etiopathogenesis, clinical presentation and management issues. With the expectation of an excellent prognosis, a practicing gastroenterologist should be aware that ＂not all varices mean cirrhosis＂.     

Heparin-induced thrombocytopenia with associated thrombosis in children after the Fontan operation: report of two cases

Heparin-induced thrombocytopenia is a widely recognized clinical disorder. The spectrum of disease ranges from clinically insignificant to severe thrombosis (heparin-induced thrombocytopenia with associated thrombosis). Overall, thrombosis occurs in approximately 33% of adults diagnosed with heparin-induced thrombocytopenia and has been associated with high morbidity and mortality rates. Diagnostic testing for this disorder is not standard in children with thrombocytopenia who are receiving heparin, despite the fact that children with congenital heart disease may be exposed to heparin frequently. There are few reported cases of heparin-induced thrombocytopenia with associated thrombosis in children; herein, we describe the cases of 2 children who developed this disorder after undergoing a Fontan operation.     

Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice

Lipoprotein lipase (LPL) deficiency is a rare, hereditary disorder of lipoprotein metabolism characterised by severely increased triglyceride levels, and associated with an increased risk for pancreatitis. Since no adequate treatment modality is available for this disorder, we set out to develop an LPL gene therapy protocol. This paper focuses on the clinical presentation of LPL deficiency, summarises the preclinical investigations in animal models and describes the rationale to evaluate gene therapy for this monogenetic disorder of lipid metabolism in humans.     

Ischemic post-conditioning to counteract intestinal ischemia/reperfusion injury

Intestinal ischemia is a severe disorder with a variety of causes. Reperfusion is a common occurrence during treatment of acute intestinal ischemia but the injury resulting from ischemia/reperfusion (IR) may lead to even more serious complications from intestinal atrophy to multiple organ failure and death. The susceptibility of the intestine to IR-induced injury (IRI) appears from various experimental studies and clinical settings such as cardiac and major vascular surgery and organ transplantation. Whereas oxygen free radicals, activation of leukocytes, failure of microvascular perfusion, cellular acidosis and disturbance of intracellular homeostasis have been implicated as important factors in the pathogenesis of intestinal IRI, the mechanisms underlying this disorder are not well known. To date, increasing attention is being paid in animal studies to potential pre- and post-ischemia treatments that protect against intestinal IRI such as drug interference with IR-induced apoptosis and inflammation processes and ischemic pre-conditioning. However, better insight is needed into the molecular and cellular events associated with reperfusion-induced damage to develop effective clinical protection protocols to combat this disorder. In this respect, the use of ischemic post-conditioning in combination with experimentally prolonged acidosis blocking deleterious reperfusion actions may turn out to have particular clinical relevance.     

慢性阻塞性肺疾病合并抑郁障碍大鼠模型的建立简

目的 多因素造模方法建立COPD合并抑郁障碍大鼠模型.方法采用两次气管滴入脂多糖、烟熏及不可预测性应激刺激建立大鼠模型.结果 模型大鼠一般表征、行为学表现、肺功能、病理学改变及5-HT水平符合COPD合并抑郁障碍的表现.结论 模型与人类COPD合并抑郁障碍病程发展及临床特征较为接近,此方法建立的COPD合并抑郁障碍动物模型是可行的.     

Malignancy-induced secondary achalasia

Secondary achalasia refers to the development of clinical, radiographic, and manometric findings of achalasia as a result of (i.e., secondary to) another underlying disorder. A variety of malignancies have been associated with secondary achalasia. Adenocarcinoma of the esophagogastric junction accounts for the majority of cases of malignancy-induced achalasia, however, noncontiguous tumors may also cause this disorder. Although rare, malignancy-induced achalasia will occasionally be encountered by gastroenterologists and gastrointestinal radiologists who see patients with dysphagia and/or achalasia. Since treatment is aimed at the underlying neoplasm, it is important to recognize this disorder. Three clinical features suggest the possibility of malignancy as a cause of achalasia: 1) short duration of dysphagia (<1 year); 2) significant weight loss (>15 pounds); and 3) age >55 years. The presence of any of these should at least raise a suspicion of malignancy. Diagnosis may not be evident on routine esophagrams and endoscopy, and requires clinical suspicion for further evaluation with thoraco-abdominal CT scanning and endoscopic ultrasonography.     

Comorbid insomnia in sleep-related breathing disorders: an under-recognized association

Background  

In the clinical practice of sleep medicine, the coexistence of common sleep disorders is not uncommon. Patients with sleep disordered breathing (SDB) may present with insomnia, and studies have shown that SDB is common among insomnia patients. Little is known about the pathophysiological mechanisms underlying this coexistence, and limited information is available regarding the impact of each disorder on the other. It is essential to consider the effect of each disorder on the other and to understand the clinical consequences anticipated when treating each disorder in isolation. The management plan should be directed toward both disorders in a systematic and evidence-based approach. Unfortunately, a consensus standard approach for the management of comorbid insomnia and SDB is not yet available.     

肠易激综合征药物治疗的循证医学评价

肠易激综合征是肠道动力和感觉异常的功能性肠病,人群患病率较高,但发病机制仍然不明,目前认为与胃肠动力异常、内脏感觉过敏、脑一肠轴改变、精神心理异常等多种因素有关。治疗IBS的药物种类较多,但主要是缓解症状,改善患者生活质量。目前评价治疗肠易激综合征药物疗效的临床试验越来越多,本文从循证医学的角度总结了近期有关6种主要药物（包括解痉剂、导泻药、止泻剂、肠道动力感觉调节剂、微生态制剂和抗抑郁药）的临床试验和综述,评价其疗效和安全性。     

Hepatic Calcifications in a Patient with Gaucher's Disease

A 34-yr-old woman with Gaucher's disease is presented. In addition to many of the clinical and pathological findings expected in patients with this disorder, this report describes yet another manifestation of this disease, hepatic calcification     

Acute lung injury and the acute respiratory distress syndrome: a clinical review

Acute respiratory distress syndrome and acute lung injury are well defined and readily recognised clinical disorders caused by many clinical insults to the lung or because of predispositions to lung injury. That this process is common in intensive care is well established. The mainstay of treatment for this disorder is provision of excellent supportive care since these patients are critically ill and frequently have coexisting conditions including sepsis and multiple organ failure. Refinements in ventilator and fluid management supported by data from prospective randomised trials have increased the methods available to effectively manage this disorder.