The leopard syndrome, a cardio-cutaneous syndrome

A patient with the "leopard" syndrome presented with cardiomyopathy and a large arteriovenous shunt of the left renal vessels. The skin manifestations included multiple lentigines, junctional naevi, blue naevi, and one malignant lentigo. This syndrome is a rare entity, but in all patients with multiple lentigines the possibility of associated cardiovascular changes should be considered. In addition, regular monitoring of the pigmented lesions should be performed because of the increased risk of development of malignant melanoma.     

Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span

Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed.Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases,endocrinologic disorders, and cancers. Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition. Syndrome-specific health care should complement standard preventive health care recommendations.Checklists and syndrome-specific growth grids should be used. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential.Support groups and Internet resources can benefit affected individuals and their families immensely.     

Bartter's syndrome and Gitelman's syndrome: Pathogenesis, pathophysiology, and therapy

Bartter's syndrome was reported in 1962, and Gitelman's syndrome, which is subtype of Bartter's syndrome was described later. These syndromes are characterized by hypokalemia, hypochloremic metabolic alkalosis, normal to low blood pressure, although they show hyperreninemia, and hyperaldosteronemia. The cause of these diseases have been unexplained for a long time. Recently however, from 1996 to 2002, several causes have identified. Bartter's syndrome can occur due to a loss of function mutation in NKCC2, ROMK, CLC-Kb and barttin, or a gain of function mutation of calcium-sensing receptor. Gitelman's syndrome can occur due to a loss of function mutation in NCC. Different causes need different treatment and have different prognosis. In fact, we cannot examine all DNA sequences in regular hospitals. So it is our goal to make a clinical diagnostic standard to appropriate treatment.     

Orthopedic complications. Compartment syndrome, fat embolism syndrome, and venous thromboembolism

Specialized education in the care of orthopedic patients includes an understanding of the common complications for which patients require monitoring. With a socioeconomic backdrop of decreasing hospital stays and prospective payment, patient care must be managed proactively. For all three complications presented, there are unique sets of risk factors that, when present, contribute to a high index of suspicion for morbidity. Clusters of symptoms have also been discussed representing the expected normal patterns. With this knowledge as a foundation, clinical application is essential to incorporate other salient aspects of individual situations. Nurses diagnose and treat human responses to health problems. The end result of human responses to injury or orthopedic conditions can be the development of complications. Stringent adherence to patient monitoring protocols can promote timely nursing interventions to prevent, minimize, or detect complications or treatment side effects. Although definitive treatment is often physician directed, nurses are in a key role to impact final patient outcomes.     

Polyglandular autoimmune syndrome, type 2

We have described two patients with Addison's disease and associated endocrinopathies, a condition termed polyglandular autoimmune (PGA) syndrome, type 2. One of our patients also had autoimmune hypothyroid disease, and the other had premature gonadal failure and Hashimoto's thyroiditis. This syndrome shows that glandular disorders tend to occur together. It has been suggested that an HLA-associated genetic predisposition coupled with environmental factors triggers an autoimmune process resulting in glandular hypofunction or hyperfunction. We stress the necessity for evaluation of every individual with idiopathic Addison's disease for associated endocrinopathies.     

饮食、运动与代谢综合征

目前不良的饮食习惯和生活方式正影响着人们的健康,导致了一些慢性病的发生.而代谢综合征正是多种慢性病集结出现的一种综合征.     

第45讲兼症病学(各论部分)第2章第2节心肌梗死后综合征

1 概况 1.1 定义 PMIS是指急性心肌梗死后数日至数周出现以心包炎、胸膜炎、肺炎等非特异性炎症为特征的一种综合征,并有反复发生的倾向,是继发症.     

Autoimmune polyglandular syndrome, type II

The combination of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 autoimmune diabetes mellitus defines autoimmune polyglandular syndrome, type II. The conditions may occur in any order, and diagnosis is confounded by the nonspecific nature of the symptoms of adrenal insufficiency and hypothyroidism. The disorder is not common, but consequences can be life threatening when the diagnosis is overlooked. The conditions usually present in midlife, and women are affected more often than men. The cosyntropin test is recommended for diagnosing adrenal insufficiency, which must be present to diagnose this syndrome. Hormone therapy for each condition is similar to treatment that would be provided if the conditions occurred separately, except that treatment for adrenal insufficiency must be given before thyroid therapy is started when the conditions occur together.     

第9章第3节全身反应综合征

1　概　况11　定义　ＳＩＲＳ是指感染或非感染对机体侵袭的反应。是全身性过度应激反应性炎症。有多种原因致病,可造成多脏器损伤,是一综合病征,是复杂的兼症。12　概念　由于细菌、真菌、病毒等感染以及胰腺炎、烫伤、外科手术等原因产生大量的各种炎症细胞因子使中性粒细胞活化释放损伤组织的物质。文献报道,儿科ＩＣＵ中ＳＩＲＳ的发生率为192%～618%,病死率为7%,而非ＳＩＲＳ病死率为3%。细胞因子增多是本病发生的关键,故ＳＩＲＳ又称为高细胞因子血症。2　兼症模式································…     

Tourette's syndrome. Tics, jerks, and quirks

Over the past 20 years, public and physician awareness of tic disorders, including Tourette's syndrome, has increased remarkably. In fact, Tourette's syndrome is now "diagnosed" by many families before they consult a physician. Patients seek help not only for the involuntary movements and noises that characterize the illness but also for the accompanying learning, behavioral, and social problems. The authors of this article define the various tic disorders and discuss diagnosis and treatment of the most severe type, Tourette's syndrome.