Cystic fibrosis

Cystic fibrosis has only been recognized as a distinct clinical entity for less than 60 years. In that period of time, the median survival has improved from a few months to 29 years. This editorial review outlines the clinical multiorgan involvement of cystic fibrosis and current management strategies and introduces the comprehensive articles by the contributing authors of this section on the most rapidly evolving areas in cystic fibrosis. The discussion includes how the cystic fibrosis gene product, the cystic fibrosis transmembrane conductance regulator, produces lung disease; the relationship between genotype and phenotype; the factors that determine prognosis in cystic fibrosis; new treatment modalities for cystic fibrosis; lung transplantation; and the prospects for gene therapy in cystic fibrosis. With rapid advances in our clinical and genetic understanding of cystic fibrosis, it is projected that individuals born with cystic fibrosis today will live into their 40s.     

Cystic fibrosis: current concepts

Cystic fibrosis (CF), a common fatal genetic disease, is a multisystem disorder whose pathogenesis has recently been linked to defects in CFTR, a newly discovered protein. CFTR is a molecular channel which controls chloride concentration in secretions of the sweat glands and the respiratory, GI, and reproductive tracts. Defective forms of CFTR, arising from various mutations in its gene, are responsible for the inadequate hydration of mucus, pancreatic juice, and other exocrine secretions. The result is dysfunction of the lungs, pancreas, and other involved organs. This article describes the diagnosis, clinical features, and approach to management of CF.     

Cystic fibrosis]

Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Causcasian populations, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, which encodes a protein that functions as a chloride channel in the apical membrane of epithelial cells. The clinical manifestations comprise recurrent and chronic bronchopulmonary infections, pancreatic insufficiency, and hidrotic salt depletion. Such complications as diabetes, cirrhosis, and respiratory insufficiency develop, resulting in death in the absence of lung transplantation. Treatment is aggressive and comprehensive from the time of diagnosis. Early and intensive treatment of bacterial colonisation and lung infection is correlated with improved prognosis, and monthly follow-up at a CF Centre is mandatory. Mean survival among CF patients at the Danish CF Centre i Copenhagen is more than 40 years. Clinical trials of gene therapy are under way, but results to date have been disappointing.     

Occupational pathology: present and future

Formed 75 years ago, occupational pathology has defined structure of occupational morbidity, determined principles of occupational diseases' pathogenesis and pathomorphosis, demonstrated dependence of occupational entities on acting occupational hazards, described clinical manifestations of occupational diseases, emphasized informative diagnostic complexes. Diagnosis in occupational pathology now is established on basis of etiology. Manifold activities helped to form a system preventing health disorders caused by occupational hazards. Topical problem is to elaborate and put into practice some criteria for compensation of occupational damage with differential expert assessment of functional disorders caused either by occupational disease or by general one. Prospective trend could be to create a system organizing and managing workers' health on workplace and to put "protection by time" principle into practice with forecasting risk of occupational diseases and dose-effect dependence. Another prospect is to elaborate and put into practice a training in social and psychologic adaptation for occupational managers and industrial workers.     

Cystic fibrosis in adolescent patients

Summary--An autopsy observation of mucoviscydosis in a female who died at the age of 17 with a prevalent affection of the bronchopulmonary system is reported. Pronounced cystic fibrosis with atrophy and lipomatosis of the pancreas was found. The cause of death was respiratory failure in spite of intensive antibacterial therapy. Bullous emphysema with frequent pneumothorax in adults with this disease considerably worsens the prognosis and requires urgent therapy which in this case was not conducted because of late hospitalization.     

Counterflow centrifugal elutriation: present and future

Only single cases with rheumatoid arthritis of the thoracic spine with vertebral subluxation have been reported to date. In a review of 100 patients with severe rheumatoid arthritis who had undergone occipitocervical fusion, arthritis of the upper thoracic spine with subluxation was discovered on conventional radiographs in four patients. Two additional patients were found elsewhere. Magnetic resonance imaging (MRI) was performed in three of the patients, confirming the diagnosis of subluxation of the upper thoracic vertebrae. In addition, MRI revealed encroachment on the anterior subarachnoid space and compression of the spinal cord.     

Asbestos: past, present and future

Owing to its particular properties asbestos has been widely used for the production of insulating material, for fire proofing, and for strengthening to other materials such as cements and plastics, and thus the story of this mineral was one of progressive commercial success until the middle of this century. However, serious health hazards were realized early: around the turn of the century a progressive form of diffuse fibrosis (asbestosis) in asbestos workers was observed and in 1950 an excess risk of lung cancer, while in 1960 the causal relationship between asbestos and mesothelioma were confirmed. In view of the known potential risks of asbestos and its widespread use in the building industry, more recently asbestos has caused considerable public concern and anxiety. Based on numerous experimental and epidemiological observations, present knowledge of the pathogenic effects of asbestos is sufficient for a number of broad conclusions to be drawn. (1) The amphibole types of asbestos are too dangerous for use as industrial material, and should be banned. (2) Chrysotile can probably be used safely if there is strict control of the workers' dust exposure. (3) It is very unlikely that the general public is at any measurable risk from asbestos in buildings. Exceptions are people working regularly on maintenance tasks involving removing or cutting of asbestos in buildings; such people are properly classified as asbestos workers and should be protected accordingly.(ABSTRACT TRUNCATED AT 250 WORDS)     

Cystic fibrosis: a system for assessing and predicting progression

Renal lymphoma has a broad spectrum of imaging manifestations. Typical patterns of renal lymphoma include multiple renal masses, solitary masses, diffuse infiltration, and invasion from contiguous retroperitoneal disease. Isolated perirenal disease is probably the most atypical form of renal lymphoma and has a variety of appearances, including small curvilinear densities and soft-tissue nodules or plaques. In general, the CT diagnosis of renal lymphoma is not difficult because most patients already have a known diagnosis of lymphoma. Nevertheless, it is important to be familiar with both the typical and the atypical manifestations of renal lymphoma because numerous disease processes, normal variants, and artifacts may potentially mimic renal lymphoma.     

Cystic fibrosis: a disease of altered protein folding

Patch clamp technique was employed to record single Na channel currents in isolated guinea-pig ventricular myocytes. Burst mode could be elicited by step depolarization and terminates immediately after repolarization. The unitary current of burst mode was not only dependent on Na concentration in the pipettes but also on the test voltage. The open time constant increased as testing voltage becomes more positive. The results from stepwise-depolarization and ramp depolarization experiments showed that the more steps or the faster the upstroke velocity of depolarization used, the more the burst mode would occure.     

Pubovaginal slings: past, present and future

Renewed interest in the pubovaginal sling procedure for stress urinary incontinence has occurred in response to recent reports of poor durability and inconsistent efficacy associated with simple cystourethropexy. Many of the failures are felt to represent patients with an unrecognized component of intrinsic sphincteric deficiency. Historically slings have a favourable cure rate, but have been perceived as having unacceptably high rates of prolonged urinary retention and secondary detrusor instability. This article reviews the preoperative evaluation and indications for pubovaginal slings, describes the evolution of the current techniques, and discusses choice of sling material, surgical approach, results and complications. It is hoped that this review will stimulate interest in this versatile but technically challenging procedure.     

Diagnosis of thyroid dysfunction: present and future

Thyroid disorders represent the second most common endocrine disorder after diabetes mellitus. For this reason, investigation of thyroid function is frequently carried out, taking advantage of numerous tests currently available. It it the physicians's difficult task to select the most appropriate assay(s) in the different pathophysiological conditions from the bewildering array of thyroid function tests, in order to satisfy optimal diagnostic standards, but also to fulfill cost/benefit criteria. Aim of this paper is to provide a brief overview of advantages and disadvantages of main thyroid function tests, and to suggest a testing strategy for the diagnosis of suspected thyroid dysfunction.     

Pain: Past, present and future.

The gate control theory of pain proposes that a mechanism in the dorsal horns of the spinal cord acts like a gate that inhibits or facilitates transmission from the body to the brain on the basis of the diameters of the active peripheral fibers as well as the dynamic action of brain processes. As a result, psychological variables such as past experience, attention, and other cognitive activities have been integrated into current research and theory on pain processes. The gate control theory, however, is not able to explain some chronic pain problems which require a greater understanding of brain mechanisms. A new theory of brain function that proposes a new conceptual nervous system is described. One of the system's components is a body-self neuromatrix whose portions (or neuromodules) subserve major psychological dimensions (or qualities) of experience. (French abstract) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Cystic fibrosis in an elderly woman

Cystic fibrosis (CF) is thought of by most physicians as a disease of children. Advances in therapy have extended the life span of patients so that many pulmonary internists have responsibility for the care of young adults with CF. Nevertheless, the initial diagnosis of CF after the age of 30 years is unusual, and a diagnosis after the age of 60 years is rare. Such a case is reported here.     

Ischaemic preconditioning: present position and future directions

Antibodies generated against a synthetic growth hormone (GH) peptide in a number of animal species were shown to enhance the efficacy of GH. However, the ability to produce the effective antibodies diminished over the time and repeated boosters failed to overcome the hurdle. Therefore, this study was designed to address the issue on the fallen antibody responses by employing different GH peptide antigen preparations in cattle. Holstein steers were repeatedly immunized with a synthetic peptide corresponding to an amino acid sequence 54-95 of porcine GH (pGH). The peptide was conjugated to ovalbumin (OVA) as a carrier. Animals initially responded to the antigen well and elicited antibodies specific to the peptide. However, the 4th challenge with the same OVA-peptide antigen rendered animals unresponsive, resulting in a decline in antibody production. This unresponsiveness was overcome by switching the antigen at the 5th immunization from OVA-peptide to a recombinant peptide preparation which was composed of maltose binding protein (MBP) as a carrier. Antibodies generated in cattle after the 5th immunization recognized not only the pGH(54-95) peptide, but also bovine GH (bGH) and pGH. These antibodies were not immunoreactive with an unrelated control peptide. Hypophysectomized (hypox) rats were used for functional analysis and bGH was active in promoting the growth of these GH-deficient rats. The growth-promoting effect of bGH was significantly enhanced by mixing with bovine anti-peptide antibodies prior to administration. Therefore, the present findings suggest that peptide 54-95 induces cattle to elicit antibodies capable of not only recognizing bGH but also augmenting the somatogenic effectiveness of bGH in hypox rats.