1/14. Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.A 15-month-old girl with severe hemolytic anemia and progressive respiratory failure is presented. She was well until the age of six months when she developed a pulmonary infection. During the next six months, she had frequent respiratory infections and her paleness became evident. At the age of 12 months, she was observed to have easy fatigability and muscle weakness, and she received her first blood transfusion. She was referred to our hospital at the age of 15 months. The physical examination revealed a malnourished girl with hypotonia, nystagmus, generalized muscle weakness and severe breathing difficulty requiring ventilatory support The hemoglobin (Hb) was 9.7 g/dl; hematocrit (Hct) 29%, mean corpuscular volume (MCV) 101 fl and reticulocyte count 15%. Peripheral blood smear revealed macrocytosis and stomatocytosis (30% of the red cells) and polychromasia. sweat chloride test was 90 and 94 mEq/L on two separate occasions. The serum vitamin e level was 0.26 mg/dl (N: 0.44-0.68). She was found to be heterozygous for factor v Leiden mutation. Although malnutrition, low serum vitamin e and elevated sweat chloride test were suggestive of cystic fibrosis, this diagnosis failed to account for all the findings in the patient. A search for a red cell enzyme deficiency revealed that the red cell triosephosphate isomerase (TPI) activity was low. dna analysis showed the 315 G-C (105 Glu-Asp) TPI mutation, thus confirming the diagnosis of TPI deficiency.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/14. Non-compliance in adolescents with chronic lung disease: causative factors and practical approach.Compliance with medical therapies may be considered a challenge in many age groups but especially so in adolescence. The adolescent patient with chronic lung disease may struggle to progress smoothly through the phases of adolescence because of fears of peer rejection and isolation occurring as a result of social, emotional and physical consequences of their underlying lung disease and its treatment. Non-compliance can be viewed as a scale from episodic compliance to frequent compliance with patients moving between ends of the spectrum. Health professionals need to consider the likely degree of compliance with therapies that they recommend, discuss the issue of compliance and the consequences of non-compliance with the adolescent patient and arrive at a workable compromise. This article discusses persistent asthma, cystic fibrosis and advanced neuromuscular disease to illustrate practical approaches to enhancing patient compliance in adolescence.- - - - - - - - - - ranking = 0.21756216826613keywords = physical (Clic here for more details about this article) |
3/14. End of life issues in a palliative care framework for a critically ill adult African American with cystic fibrosis: a case study.The purpose of this investigation, using case study methodology, was to explore the end of life issues and to give meaning to the biopsychosocial experiences of the study participant, an adult African American female patient diagnosed with cystic fibrosis. Two theoretical frameworks were used to guide the investigation of the study: Kubler-Ross Model of the Stages of Dying and the Conceptual Framework for palliative care Practice. Data analysis included review of medical records and patient journals, interviews, observations and clinical assessment. The findings indicated that end of life issues can be articulated within the context of a palliative care framework and that the biopsychosocial experiences of the dying person acquire meaning when situated within life history, ethical values and metaphysical belief systems.- - - - - - - - - - ranking = 0.21756216826613keywords = physical (Clic here for more details about this article) |
4/14. Holistic approach of a child with cystic fibrosis: a case report.The pediatric dentistry Clinic staff of the Federal University of Santa Catarina (UFSC) treated a 5-year-old patient who had multiple dental treatment necessities. He also had cystic fibrosis (CF). As CF is an incurable disease that affects the mucous glands, especially the ones related to the lungs and digestive organs, the patient presented both chronic respiratory and intestinal problems. Such problems resulted in a severely compromised nutritional status. patients who have CF may present problems in oral health because they receive food supplementation that is rich in carbohydrates. Behavioral changes of such patients when in contact with health professionals are also a point to consider because these changes may make the treatment difficult. That is the reason why oral complications imposed by the disease, as well as the psychological aspects related to it, need to be discussed so that treatment is given to the patient aiming at physical and emotional comfort.- - - - - - - - - - ranking = 0.21756216826613keywords = physical (Clic here for more details about this article) |
5/14. Patient-clinician conflict: causes and compromises.Conflict is an everyday phenomenon, a part of everyday life. It is hardly surprising that it also occurs in a clinical setting, not only between clinicians and within teams, but also between patients, their families and clinicians. This is all the more the likely in a setting that deals with a chronic disease such as CF. The physical, emotional, social and practical burdens of the illness are such that coping mechanisms are stretched to their limits. Disagreements, misunderstandings, impaired trust and different expectations may all challenge the patient-clinician relationship. In a context in which children and adolescents form at least half the clientele, the potential for conflict is intensified because of the involvement of parents. This paper emphasises the normality of such conflicts, and using case illustrations, explains the reasons for conflicts and explores how best to resolve them. The basic principles of conflict-resolution are outlined, and useful techniques, readily applicable in everyday practice, are described.- - - - - - - - - - ranking = 0.21756216826613keywords = physical (Clic here for more details about this article) |
6/14. autopsy confirmation of severe pulmonary interstitial fibrosis secondary to munchausen syndrome presenting as cystic fibrosis.Chronic factitious disorder with physical symptoms, or munchausen syndrome, is a well-recognized but uncommonly diagnosed psychiatric condition characterized by the deliberate production of signs and symptoms of disease in order to receive medical attention. Clinical suspicion of this disease is rarely confirmed by autopsy, as the patients usually do not die as a consequence of feigning illness. Here we report the autopsy confirmation of a case of a suspected munchausen syndrome patient who presented with a history of cystic fibrosis. Examination of the lungs demonstrated extensive severe interstitial fibrosis, and polariscopic examination revealed a large quantity of crystalline material throughout the tissue; x-ray diffraction identified the material as talc. Synopses of published cases of munchausen syndrome presenting as cystic fibrosis, and cases of munchausen syndrome with pulmonary talcosis are presented as part of the discussion.- - - - - - - - - - ranking = 0.21756216826613keywords = physical (Clic here for more details about this article) |
7/14. Endoscopic management of bronchial stenosis after double lung transplantation.Double lung transplantation with bilateral bronchial sutures is an increasingly popular therapeutic alternative for endstage, bilateral, septic pulmonary disease; however, surgical outcome has been hampered by mechanical complications at the level of the airway anastomoses. In our institution, therefore, the protocol for surveillance includes frequent flexible fiberoptic and rigid bronchoscopy under general anesthesia in all patients. Since 1988, there were 24 double lung transplantations (mean age, 19 yr) performed at the University of Marseille hospitals using bilateral sutures without omental wrapping. Nineteen patients had cystic fibrosis; of the ten individuals (53 percent) with cystic fibrosis who ultimately developed bronchial stenosis, six required therapeutic endoscopic intervention including dilatation or Nd:YAG laser resection. Five patients required endobronchial silicone stents. Statistically significant risk factors for postsurgical airway narrowing included young age (mean, 14.3 yr vs 24.0 yr in patients without stenosis) and prolonged mechanical ventilation prior to transplant (all five patients ventilated before surgery developed stenosis). Results of interventional bronchoscopy were good, and an excellent level of physical activity was maintained in most patients. A team familiar with all aspects of therapeutic bronchoscopy is essential to ensure proper management of airway complications in patients after lung transplantation.- - - - - - - - - - ranking = 0.21756216826613keywords = physical (Clic here for more details about this article) |
8/14. cystic fibrosis in 65- and 67-year-old siblings. Clinical feature and nasal potential difference measurement in patients with genotypes F508del and 2789 5G-->A.cystic fibrosis (CF) is a recessive genetic disease caused by defects of the cystic fibrosis trans-membrane regulator (CFTR) gene with a median survival of less than 35 years. This work reports on the oldest living German siblings with CF. Besides clinical history, CF genotype and nasal potential difference (NPD) measurement results, the remarkably high exercise activity of the siblings is discussed as a disease-modifying factor. Both male patients have an overall mild pulmonary manifestation. They have suffered from abdominal symptoms since their early childhood, including recurrent pancreatitis and diffuse symptoms leading to partial gastric resection. They were diagnosed as having CF with positive sweat tests at the advanced ages of 45 and 43 years, respectively. Later on genotyping revealed compound heterozygosity for F508del and 2789 5G-->A. Using NPD we demonstrated a CF-typical inhibition of the NPD by the Na channel blocker amiloride, although in both siblings the remaining CFTR function and alternate chloride channel function were detected during superfusion of the nasal epithelium with isoproterenol and ATP. Long-term survival with CF is basically influenced by the CFTR genotype. The patients' genotype was discussed as a mild one with remaining CFTR function. We demonstrated this residual CFTR function in both siblings using NPD. Additionally the siblings' continuous healthy lifestyle and their engagement in a remarkably high level of exercise activities from early childhood to the present possibly have an important effect on the long-term outcome of CF as disease-modifying factors. In this regard this report can encourage CF patients to maintain a high level of physical activity in their daily lives.- - - - - - - - - - ranking = 0.21756216826613keywords = physical (Clic here for more details about this article) |
9/14. Cystic disease of the lungs.Cystic disease of the lung should be considered in the differential diagnosis of any patient presenting with respiratory symptoms. The most important aids available to the thoracic surgeon for the evaluation of cystic disease are history, physical examination, and chest radiograph. Confirmation of diagnosis often requires computed tomography, pulmonary and thoracic aortic angiography, and upper gastrointestinal barium series.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
10/14. Overdiagnosis of cystic fibrosis.In 7 patients seen over 3 years, cystic fibrosis had been wrongly diagnosed. The initial sweat test was misleadingly high in only 3 cases. In 1 case no sweat test had been done, and in 4 one or more normal sweat-test results were ignored. As a result of misdiagnosis 4 children were sent to schools for the physically handicapped and 1 man lost his job in the police. Despite warnings about the limitations of sweat tests and dangers of diagnosing cystic fibrosis without typical clinical features, cystic fibrosis is wrongly diagnosed in substantial numbers of children in england.- - - - - - - - - - ranking = 0.21756216826613keywords = physical (Clic here for more details about this article) |
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