From variome to phenome:Pathogenesis,diagnosis and management of ectopic mineralization disorders

Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes. These disorders are classified based on the mechanisms through which the mineralization occurs: metastatic or dystrophic calcification or ectopic ossification. Underlying mechanisms have been extensively studied, which resulted in several hypotheses regarding the etiology of mineralization in the extracellular matrix of soft tissue. These hypotheses include intracellular and extracellular mechanisms, such as the formation of matrix vesicles, aberrant osteogenic and chondrogenic signaling, apoptosis and oxidative stress. Though coherence between the different findings is not always clear, current insights have led to improvement of the diagnosis and management of ectopic mineralization patients, thus translating pathogenetic knowledge(variome) to the phenotype(phenome). In this review, we will focus on the clinical presentation, pathogenesis and management of primary genetic soft tissue mineralization disorders. As examples of dystrophic calcification disorders Pseudoxanthoma elasticum, Generalized arterial calcification of infancy, Keutel syndrome, Idiopathic basal ganglia calcification and Arterial calcification due to CD73(NT5E) deficiency will be discussed. Hyperphosphatemic familial tumoral calcinosis will be reviewed as an example of mineralization disorders caused by metastatic calcification.     

Prognosis of patients with cirrhosis and chronic liver disease admitted to the medical intensive care unit

Patients with hepatic failure admitted to the medical ICU (MICU) generally have a poor prognosis. To determine if there were readily identifiable clinical factors associated with a high predictive value for outcome, we reviewed retrospectively the charts of 100 patients with serious liver disease admitted to the MICU. The overall mortality of the group was 64%. We found that Child's class, a need for mechanical ventilation, and an elevated serum creatinine had the greatest prognostic significance. Ninety-one percent of the patients receiving assisted ventilation, 89% of the patients in Child's class C, and 93% of the patients with creatinine values greater than 1.3 mg/dl died during their MICU admission. Furthermore, a multivariant regression analysis indicated that patients in Child's class C receiving mechanical ventilation who had an abnormal serum creatinine (greater than 1.3 mg/dl) during the first 72 h in the MICU had only a 2% survival rate.     

Transcatheter embolization in the management of pulmonary hemorrhage

A group of 306 patients with acute pulmonary hemorrhage were evaluated by means of bronchial arteriography and treated with transcatheter embolization. Specific causes for bleeding included lung abscess, chronic pneumonia, tuberculosis, lung cancer, and bronchiectasis. In 120 patients the hemoptysis was massive, with volumes exceeding 500 ml/day. The majority (n = 225) were treated during peak hemorrhage. Embolization was performed with one of three methods: particulate embolization with polyurethane or velour, obturation with the angiographic catheter combined with peripheral embolization by means of infused albumin macroaggregates, and regional infusion of sclerosing agents. Effective hemostasis was obtained initially in 278 patients (90.8%), including 87.5% of those treated during peak hemorrhage. In 26 of 28 cases without initial response, the pulmonary artery was the source of bleeding. Recurrent bleeding, within 1-4 days, requiring surgery was observed in 39 patients with initially successful hemostasis. Of 158 patients who were treated without surgery, subsequent episodes of hemoptysis occurred in 36. Combined methods of embolization may improve the efficacy of treatment of operable and inoperable patients with lung disease complicated by hemorrhage.     

格列吡嗪胶囊的药代动力学及生物利用度研究

格列吡嗪胶囊的药代动力学及生物利用度研究陈秋潮，杨春芹，赵彩虹，马永贵，李雪宁，陈伟力（上海医科大学中山医院药剂科２０００３２）格列吡嗪（ｇｌｉｐｉｚｉｄｅ，简称Ｇ）属新的磺酰脲类降糖药，主要用于Ⅱ型（非胰岛素依赖型）糖尿病。其药理作用主要是直接刺激...