Sickle cell disease and cystic fibrosis

Simultaneous occurrence of both cystic fibrosis and sickle cell disease in the same patient is a rare phenomenon and has occurred only in 3 reports in the world literature. This phenomenon has never been described before in Arab population. In this report, we describe the first reported case of both diseases in one patient in the Arab population, and discuss its complications and review the literature in this aspect.     

Longitudinal development of mucoid Pseudomonas aeruginosa infection and lung disease progression in children with cystic fibrosis

Context  Although Pseudomonas aeruginosa is the most common virulent respiratory pathogen in cystic fibrosis (CF), the longitudinal development of P aeruginosa infection and its effect on antibody responses and lung disease progression in children with CF remain unclear. Objective  To prospectively examine the epidemiology of P aeruginosa infection and its impact on CF pulmonary morbidity. Design, Setting, and Patients  We prospectively evaluated 56 CF patients at 2 CF centers in Madison and Milwaukee, Wis, from birth up to age 16 years between April 15, 1985, and April 15, 2004, with diagnoses made through the Wisconsin CF Neonatal Screening Project. Main Outcome Measures  Timing of nonmucoid P aeruginosa and mucoid P aeruginosa acquisition was assessed by first positive result. Longitudinal development from no P aeruginosa to nonmucoid P aeruginosa and from nonmucoid P aeruginosa to mucoid P aeruginosa was examined. Outcome measurements included antibody titers, respiratory symptoms, quantitative chest radiography, and pulmonary function tests. Results  Sixteen patients (29%) acquired nonmucoid P aeruginosa in the first 6 months of life. The age-specific prevalence of mucoid P aeruginosa increased markedly from age 4 to 16 years. Nonmucoid and mucoid P aeruginosa were acquired at median ages of 1.0 and 13.0 years, respectively. In contrast with the short transition time from no P aeruginosa to nonmucoid P aeruginosa, the transition time from nonmucoid to mucoid P aeruginosa was relatively long (median, 10.9 years) and could be slightly extended by brief/low anti–P aeruginosa antibiotic treatment. Antibody titers increased with both transitions, but the deterioration in cough scores, chest radiograph scores, and pulmonary function correlated best with transition from nonmucoid to mucoid P aeruginosa. Conclusions  Early prevention and detection of nonmucoid and mucoid P aeruginosa are critical because of early acquisition and prevalence. There is a window of opportunity for suppression and possible eradication (by aggressive anti–P aeruginosa treatment) of initial nonmucoid P aeruginosa. Mucoid P aeruginosa plays a much greater role in CF lung disease progression than nonmucoid P aeruginosa. Antibody titers, cough scores, and chest radiographs are early signs of nonmucoid P aeruginosa and especially mucoid P aeruginosa stages.      

Survival of cystic fibrosis patients in South Australia. Evidence that cystic fibrosis centre care leads to better survival

Life tables were calculated for 205 South Australians with cystic fibrosis. An improvement in survival was noted between 1948 and 1982. Ninety-three per cent of patients who were diagnosed as having cystic fibrosis after 1973 were alive at 14 years of age, compared with 40% of those who were diagnosed between 1948 and 1973. A Cystic Fibrosis Clinic was established in 1973 and much of this improvement is attributed to the care provided by this centre. Deaths from meconium ileus fell from 58% of infants with this complication between 1948 and 1973 to only 8% between 1973 and 1983, in spite of the increasing incidence of patients who were chronically colonized with Pseudomonas aeruginosa (currently 68% of patients). These figures are similar to those from Victoria and from other cystic fibrosis centres in North America. The improvement in survival means that adults now comprise a quarter of the patients with cystic fibrosis in South Australia, and that adult institutions need to be aware of these patients and their needs.     

高渗盐水对肺囊性纤维化患者黏膜清除率和肺功能的影响

背景：肺囊性纤维化患气道表面液体容量的异常稳态被认为是导致黏膜清除率和气道防御力下降的原因。高渗盐水通过其高渗透性可增加气道表面的液体容量、恢复黏膜清除率并改善肺功能。方法：共24例肺囊性纤维化患随机接受用或不用阿米洛利预处理的高渗盐水（7％的氯化钠5ml）吸入治疗，4次／d。在基线期和14d的治疗期内，观察黏膜清除率和肺功能。结果：长期吸入未用阿米洛利预处理的高渗盐水（即安慰剂预处理），1h黏膜清除率持续增加（≥8h），与阿米洛利预处理组比较（14．0％±2．0％vs7．0％±1．5％；P=0．02）。增加超过基线期的24h黏膜清除率。而且在基线期和治疗期间，吸入安慰剂处理的高渗盐水1s用力呼气量（FEV1）增加（均差6．62％；95％CI1．6～11．7；P=0．02），而吸入阿米洛利处理的高渗盐水的FEV1未增加（均差2．9％；95％CI-2．2～8．0；P=0．23）。高渗盐水和安慰剂治疗组的用力肺活量（FVC）、25％～75％FVC的用力呼气流量（FEF25-75）和呼吸道症状显改善，而作为肺总容景组成部分的残气量（RV：TLC）在两组均束改变。比较两组肺功能的变化无显性差异。     

Survival effect of lung transplantation among patients with cystic fibrosis.

CONTEXT: Patients with cystic fibrosis (CF) are the second largest group of lung transplant recipients in the United States. The survival effect of transplantation on a general CF population has not previously been measured. OBJECTIVE: To determine the impact of bilateral lung transplantation on survival in patients with CF. DESIGN, SETTING, AND PATIENTS: Retrospective observational cohort study of 11 630 CF patients who did not undergo lung transplantation (controls) and 468 transplant recipients with CF from 115 CF centers in the United States, 1992-1998. Patients were stratified into 5 groups based on a 5-year survival prediction model (survival group 1: <30%; survival group 2: 30 to <50%; survival groups 3-5: 50 to <100%.) MAIN OUTCOME MEASURE: Five-year survival from date of transplantation in 1992-1997 in the transplant group and from January 1, 1993, in the control group. RESULTS: Lung transplantation increased 5-year survival of CF patients in survival group 1. Survival group 2 had equivocal survival effects, and groups 3-5 had negative survival effects from transplantation. From 1994-1997, there was a mean annual prevalence of 238 patients in survival group 1 and mean annual incidence of 154 patients entering the group, approximately 1.5 times the number of lung transplantations performed each year in CF patients (mean, 104). Use of the criterion of forced expiratory volume in 1 second of less than 30% resulted in an equivocal survival benefit and identified 1458 potential candidates for transplantation in 1993. CONCLUSIONS: Cystic fibrosis patients in group 1 have improved 5-year survival after lung transplantation. The majority of patients with CF have equivocal or negative survival effects from the procedure. Selection of patients with CF for transplantation based on group 1 survival predictions maximizes survival benefits to individuals and may reduce the demand for scarce donor organs.     

Hepatic abscess and cystic fibrosis

Extrapulmonary infection is rare in cystic fibrosis. We describe two adult patients with cystic fibrosis whose course was complicated by the development of liver abscesses. The possible aetiology of these abscesses is discussed and the diagnosis, treatment and prognosis of pyogenic hepatic abscess is briefly reviewed.     

Parental procreative obligation and the categorisation of disease: the case of cystic fibrosis

The advent of prenatal genetic diagnosis has sparked debates among ethicists and philosophers regarding parental responsibility towards potential offspring. Some have attempted to place moral obligations on parents to not bring about children with certain diseases in order to prevent harm to such children. There has been no rigorous evaluation of cystic fibrosis in this context. This paper will demonstrate cystic fibrosis to have unique properties that make it difficult to categorize among other diseases with the goal of promulgating a reproductive rule. Once this is established, it will be demonstrated that procreative rules that appeal to future health are inadequate in the era of advancing genetic knowledge. Utilising a specification of Joel Feinberg's 'open future' concept outlined by Matteo Mameli, it will offer an analysis of parental obligation that does not constrain parents of potential children with cystic fibrosis with a moral obligation not to bring them about.     

基于聚类分析的肺癌与基因相关关系研究

目的：研究与不同类型肺癌存在关联的基因及其与肺癌的关联,为肺癌相关基因领域的研究学者提供参考。方法：通过对肺癌、基因进行命名实体识别、实体数据的标准化处理、肺癌-基因矩阵构建、肺癌-基因矩阵的聚类分析、文献回溯等,基于聚类的方法发现不同类型肺癌存在关联的基因及其在肺癌不同阶段的具体关联。结果：利用聚类分析的方法将肺癌大致分为A549 lung cancer,Advanced non-small-cell lung cancer,small cell lung carcinoma四大类。高频基因主要是EGFR（在晚期非小细胞肺癌患者体内突变率较高）、P53（主要在NSCLC晩期患者中高水平突变表达）、KRAS（主要与NSCLC有关）。结论：基因、蛋白质、化学物质等实体对肺癌的产生与治疗至关重要。深入探究肺癌与基因的关系对肺癌的预防、诊断、治疗均有重要意义。