1/12. CF and me. interview by Anna Sidey.Home care and aggressive management for cystic fibrosis can help to ensure that this disorder fits in to a family's lifestyle and does not dictate it. This pattern of care requires high levels of autonomy, commitment and confidence in the nursing team, alongside a mutually trusting and supportive relationship between the child, the family and the care team. In this case this relationship was between Kelly and the care team. Kelly was initially reluctant to assume responsibility for her lifestyle and increasingly complex treatment and care but once empowered to do so, became a great enthusiast. This enthusiasm led her, in her early teens, to write the following account, which she asked me to publish for her. I knew Kelly for over 10 years, during which her nature demonstrated a complex mixture of compliance and contrariness in both her everyday life and her approach to her CF. Her death followed a rapid deterioration. This account reflects the quality of life she and her family achieved during one of the more fulfilling episodes in her short life.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/12. CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.Disease-modifying genes might participate in the significant intrafamilial variability of the renal phenotype in autosomal dominant polycystic kidney disease (ADPKD). Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is a chloride channel that promotes intracystic fluid secretion, and thus cyst progression, in ADPKD. The hypothesis that mutations of the CF gene, which encodes CFTR, might be associated with a milder renal phenotype in ADPKD was tested. A series of 117 unrelated ADPKD probands and 136 unaffected control subjects were screened for the 12 most common mutations and the frequency of the alleles of the intron 8 polymorphic TN: locus of CF. The prevalence of CF mutations was not significantly different in the ADPKD (1.7%, n = 2) and control (3.7%, n = 5) groups. The CF mutation was DeltaF508 in all cases, except for one control subject (1717-1G A). The frequencies of the 5T, 7T, and 9T intron 8 alleles were also similar in the ADPKD and control groups. Two additional patients with ADPKD and the DeltaF508 mutation were detected in the families of the two probands with CF mutations. kidney volumes and renal function levels were similar for these four patients with ADPKD and DeltaF508 CFTR (heterozygous for three and homozygous for one) and for control patients with ADPKD collected in the University of colorado health Sciences Center database. The absence of a renal protective effect of the homozygous DeltaF508 mutation might be related to the lack of a renal phenotype in CF and the variable, tissue-specific expression of DeltaF508 CFTR. Immunohistochemical analysis of a kidney from the patient with ADPKD who was homozygous for the DeltaF508 mutation substantiated that hypothesis, because CFTR expression was detected in 75% of cysts (compared with <50% in control ADPKD kidneys) and at least partly in the apical membrane area of cyst-lining cells. These data do not exclude a potential protective role of some CFTR mutations in ADPKD but suggest that it might be related to the nature of the mutation and renal expression of the mutated CFTR.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/12. Fatal pulmonary infection due to multidrug-resistant mycobacterium abscessus in a patient with cystic fibrosis.We report a case of fatal pulmonary infection caused by mycobacterium abscessus in a young patient with cystic fibrosis, who underwent bipulmonary transplantation after a 1-year history of severe lung disease. Fifteen days after surgery he developed septic fever with progressive deterioration in lung function. M. abscessus, initially isolated from a pleural fluid specimen, was then recovered from repeated blood samples, suggesting a disseminated nature of the mycobacterial disease. Drug susceptibility testing assay, performed on two sequential isolates of the microorganism, showed a pattern of multidrug resistance. Despite aggressive therapy with several antimycobacterial drugs, including clarithromycin, the infection persisted, and the patient died.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/12. Hepatocellular carcinoma in association with cirrhosis in a patient with cystic fibrosis.BACKGROUND: Cystic fibrosis liver disease (CFLD) occurs in 37% of patients with CF. To date and to the best of our knowledge, there has not been a documented case of hepatocellular carcinoma in association with cirrhosis and CF. CASE REPORT: A 32-year-old lady with cystic fibrosis (CF) presented for her annual review. She had been diagnosed with CFLD since early adolescence. A routine ultrasound of her liver revealed lesions consistent with hepatocellular carcinoma. This was confirmed on histology. She had no risk factors for hepatitis, and thorough investigation revealed no other cause for her chronic liver disease. She was also found to be pregnant at the time of diagnosis. Her tumour was considered too large for resection and liver transplantation and she was referred to a national centre for laser ablative therapy. CONCLUSION: It is our concern that with the increased life expectancy of patients with CF and the chronic nature of CFLD that this may be an increasingly recognised complication amongst the CF adult population. Therefore, we have changed our practice to more intense surveillance of patients with established CFLD to incorporate biannual ultrasound imaging of the hepatic system and yearly serum concentration measurements of alpha-fetoprotein.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/12. diagnosis of cystic fibrosis and celiac disease in an adult: one patient, two diseases, and three reminders.This case report describes the uncommon occurrence of celiac disease and cystic fibrosis in an obese adult patient. Apart from its rarity, the case serves to highlight the elusive nature of these 2 diseases when presenting with atypical clinical features in an adult.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/12. The impact of cystic fibrosis on recovery from orthopedic trauma: a case study.Cystic Fibrosis has effects on many body systems, including the skeletal system. In this case, we describe the impact of respiratory and endocrine disease on bone healing following orthopedic trauma in a 22-year-old woman. Limitations to mobility resulting from trauma complicated her respiratory condition. Disease-related effects on bone health and healing delayed her recovery from the trauma. It is important to recognize the multisystemic nature of CF, even when managing acute orthopedic injuries.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/12. Psoriatic or cystic fibrosis arthropathy? Difficulty with diagnosis and management.A 19-year-old man with cystic fibrosis developed arthritis at the age of 12 years. He also suffered from psoriasis, and was found to be HLA-B27 positive. His disease was episodic in nature for the first 5 years, but he later developed an unremitting erosive arthropathy which proved difficult to treat.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/12. Fat overload syndrome. An autopsy study with evaluation of the coagulopathy.Fat overload syndrome is a rare complication of intravenous fat emulsion therapy. It is characterized by sudden elevation of the serum triglyceride level, fever, hepatosplenomegaly, coagulopathy, and variable end-organ dysfunction. The illness is generally discrete, and symptoms regress as the lipemia clears. The transient nature of the syndrome has allowed only speculation as to its pathogenesis. The authors report an autopsy study of a child who died during an acute episode of fat overload and document the causative role of fat sludging in the associated end-organ failure. In addition, they offer evidence that the coagulopathy, previously an enigma, results from primary fibrinolysis, possibly caused by release of tissue plasminogen activators from the damaged endothelial cells.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/12. Behavioral interventions and stress management training for hospitalized adolescents and young adults with cystic fibrosis.Recent studies have demonstrated that the majority of cystic fibrosis (CF) patients are not at high risk for developing psychological problems. Clinical studies emphasizing the development of adaptive coping mechanisms in these patients have been suggested as a more appropriate line of research. The purpose of the present paper is to describe our experience in teaching various behavioral and stress management strategies to help CF patients. Behavioral counseling, relaxation training, and biofeedback have all been used with these patients to help them manage a number of problems more effectively. The predominant presenting problems have included elevated anxiety levels, sleeping difficulties, pain, and hyperventilation episodes. The typical treatment course with these patients is described and a case example is given to help elucidate the nature of behavioral interventions. patient satisfaction ratings indicate that most patients view these techniques positively. Clinical observations suggest that the acquisition of behavioral coping skills may enhance the CF patient's perceived control of his/her situation, reduce the level of pain and anxiety, and enhance the quality of life.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/12. Hypertrophic osteoarthropathy in cystic fibrosis.Seven adult patients with cystic fibrosis who had radiological evidence of hypertrophic osteoarthropathy were reviewed. In five of the patients symptoms were particularly pronounced at times of acute infective exacerbations; appropriate treatment of the infective episodes resulted in reduction or resolution of the bone pain and joint effusions. Despite this symptomatic relief periosteal changes persisted radiologically and their chronic nature was indicated by changes in the midshafts of long bones. Four of the seven patients had transient gynaecomastia or mastalgia related to infective exacerbations. It is hypothesised that a neuroendocrine mechanism--namely, release of vasoactive intestinal polypeptide--might account for the osteoarthropathy.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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