Bartter和Gitelman综合症

Bartter综合症（BS）是一种少见的肾小管功能异常的疾病，属常染色体隐性遗传病。1962年由Bartter等首先报道2例病人，其临床症状群包括：低钾血症、代谢性硷中毒，高肾素、高醛固酮，血压正常或偏低，肾组织学检查显示肾小球旁器肥大。随后，于1966年由Gitelman等报道了3例患者，临床表现类似BS，但症状较BS为轻，伴有严重低血镁，故将这类疾病命名为Gitelman综合症（GS）。近年来，由于分子生物学技术，尤其是基因筛选的开展，发现的病例增多，发病机理的研究不断深入。     

Bartter和Giteman综合症

Bartter综合症(BS)[1]是一种少见的肾小管功能异常的疾病,属常染色体隐性遗传病.1962年由Bartter等首先报道2例病人,其临床症状群包括:低钾血症、代谢性硷中毒,高肾素、高醛固酮,血压正常或偏低,肾组织学检查显示肾小球旁器肥大.随后,于1966年由Gitelman等报道了3例患者,临床表现类似BS,但症状较BS为轻,伴有严重低血镁,故将这类疾病命名为Gitelman综合症(GS)[2].近年来,由于分子生物学技术,尤其是基因筛选的开展,发现的病例增多,发病机理的研究不断深入[3].     

Raynaud's syndrome and carpal tunnel syndrome

We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome may exacerbate Raynaud's syndrome and should be considered particularly in patients with asymmetrical digital lesions.     

多囊卵巢综合征的研究进展

多囊卵巢综合征（PCOS）是一种具有多种致病因素、临床表现多态性的综合征，以慢性持续的无排卵和高雄激素血症为基本病理生理改变。近年研究表明，PCOS是以胰岛素抵抗（IR）为特征的内分泌代谢疾病，并且是代谢综合征（MS）的一个组成部分。作者就PCOS中存在多种与MS以及最终的心血管病变相关因子改变作一综述。     

Kounis syndrome: allergic acute coronary syndrome

Kounis syndrome is defined as a group of acute coronary syndromes that manifests as unstable vasospastic or nonvasospastic angina,and even as acute myocardial infarction triggered by the release of inflammatory mediators following an allergic insult.1 Kounis syndrome is a rare and complex syndrome.Instant treatment decisions need to be made once it happens.Here,we defined a case of severe Kounis syndrome,culminating in acute coronary syndrome,as a result of an acute allergic reaction,which was likely related to iodinated contrast media or dextran-40 use.     

Moyamoya syndrome in a child with Down syndrome

Moyamoya syndrome has rarely been reported in association with Down syndrome. We report a case of an 11-year-old female child with Down syndrome who presented with hemiparesis and facial palsy. Imaging investigations (magnetic resonance angiography and digital subtraction angiography) revealed the classical Moyamoya pattern. Work-up for prothrombotic and autoimmune disorders was negative. The neurological deficits recovered well. The association of Moyamoya syndrome in patients with Down syndrome has been highlighted. The possible causes for the association and management have been reviewed briefly.     

Levodopa withdrawal syndrome identical to neuroleptic malignant syndrome

A 60 year old woman with idiopathic Parkinson's disease had been prescribed thioridazine for schizophrenia. Five months after this was stopped, Sinemet also considered of dubious therapeutic value, was withdrawn. One week later she developed features of the neuroleptic malignant syndrome (NMS) accompanied by myoglobinuric renal failure. Post-mortem examination confirmed Lewy body degeneration in the substantia nigra. It is proposed that NMS may be caused by levodopa withdrawal in Parkinson's disease, and that it is withdrawal of dopaminergic drive that causes the syndrome.     

骨髓增生异常综合征合并噬血细胞综合征1例

噬血细胞综合征(hemophagocytic syndrome,HPS)亦称噬血细胞性淋巴组织细胞增生症(hemophagocytic lymphohistocytosis),又称噬血细胞性网状细胞增生症(hemophagocytic reticulosis),临床特征为持续性无明显诱因发热,伴贫血、肝脾肿大、全血细胞减少、肝功能异常和凝血障碍,可并发多种其他疾病,我院发现骨髓增生异常综合征(melodysplastic syndrome,MDS)合并HPS 1例,现报道如下:     

睡眠呼吸暂停综合征与代谢综合征的关系

0 引言睡眠呼吸暂停综合征（Sleep Apnea Syndrome,SAS）与代谢综合征（Metabolic Syndrome,MS）都是临床常见疾病．二者有着较高的并存率,均是心血管疾病发生和发展的重要原因．针对SAS与MS两者之间的关系目前有几种不同的观点：Wilcox等认为SAS和MS共同存在,组成“Z”综合征;     

Acute coronary syndrome. An acute inflammatory syndrome

Atherosclerosis begins with the accumulation of small lipoprotein particles within arterial intima. These particles coalesce together and are modified and then they induce localized endothelial inflammation, thereby attracting leukocytes. Scavenger receptors over the surface of monocytes bind to the modified low density lipoprotein particles, which transform into foam cells that become a source for further inflammatory cytokines. The level of inflammation is heightened in ruptured coronary plaques. In patients dying of an acute myocardial infarction, the level of inflammation is heightened in all lesions in the coronary tree. The inflammatory reaction in acute coronary syndrome is not confined to cellular immunity, but also encompasses humoral immunity. High sensitivity CRP hs-CRP measures systemic inflammation, and at low levels it has emerged as a strong predictor of adverse cardiovascular events. It is mainly used to further stratify the intermediate-risk patients. Many other molecules have shown promise as markers for increased inflammation and increased risk of adverse cardiac events. That risk may be additive in nature, and some studies suggest that inflammatory markers can also predict response to various treatment strategies during acute coronary syndromes.     

Leopard syndrome

The Leopard syndrome is a complex of multisystemic congenital abnormalities characterised by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness (sensorineural). Hypertrophic cardiomyopathy, though not included in the mnemonic, is often associated. Although the Leopard syndrome is rare, it is important to recognise it since it can be associated with serious cardiac disease. It is advisable to follow up patients with Leopard syndrome for new onset of cardiac abnormalities and to monitor the progression of existing cardiac disease. We present a case report and review of the literature of this syndrome.