Isolation and sequence analysis of amyloid protein AA from a patient with cystic fibrosis.

This study represents the first sequence analysis of an amyloid fibril protein from a patient with cystic fibrosis. Although chronic infections are a hallmark of cystic fibrosis, secondary amyloidosis is a rare complication, and during the past 20 years, only 16 cases of amyloidosis in patients with cystic fibrosis have been reported. We examined amyloid fibrils isolated from the spleen of a 25-year-old man who had a history of a chronic cough since infancy and a diagnosis of cystic fibrosis at age 6 years.

Pneumatosis intestinalis in cystic fibrosis.

We retrospectively reviewed the clinical and radiographic findings in patients with pneumatosis intestinalis (PI), who were identified among 441 patients with cystic fibrosis. Since 1944, the age at onset and the incidence of PI have increased. Pneumomediastinum, pneumothorax, or pulmonary interstitial emphysema was found in 95% of patients with PI compared with 62% of patients without PI.

Secondary (AA) amyloidosis in cystic fibrosis. A report of three cases.

The authors report the pathologic features of three cases of amyloidosis associated with cystic fibrosis. Renal biopsy led to the diagnosis (case 1) or suspicion (case 2) of amyloidosis in patients who were 23 and 21 years old, respectively. The third patient died at age 22 years, and amyloidosis was not discovered until autopsy.

Prediction of rehabilitation status of young adults with cystic fibrosis.

This study determined the relationship between vocational and educational plans, work values, vocational choice, awareness of occupational requirements, intelligence, self-esteem, and clinical severity of patients with cystic fibrosis and their school and vocational status six years after hospital clinical evaluation. Initially, 52 adolescents were tested on the Goldberg Vocational Development Scale, the Army General Classification Test, Tennessee Self-Concept Scale, and the Shwachman-Kulczycki System of Clinical Evaluation. Six years later each patient was sent a questionnaire to determine current school and employment.

Environmental deprivation and transient elevation of sweat electrolytes.

We report five children who had transient elevations in sweat electrolyte values in association with environmental deprivation. The high electrolyte values were not always associated with malnutrition, and normalized more rapidly than weight. The reason for these abnormalities is unknown.

Amyloidosis as a complication of cystic fibrosis.

Amyloidosis appears to be a rare complication of cystic fibrosis. We discuss three patients with amyloidosis complicating cystic fibrosis to add to the six patients previously recorded. The presenting problem was proteinuria in five patients, thyromegaly in three patients, and hepatosplenomegaly in one patient.

Meconium ileus: ten patients over 28 years of age.

Meconium ileus is the initial clinical manifestation of cystic fibrosis. Once the intestinal obstruction is corrected either medically or surgically the course of disease is that of cystic fibrosis. It is suggested that babies with this disease should be treated in specialized pediatric cystic fibrosis centers to prevent early death or some avoidable complications.

Management of pneumothorax in cystic fibrosis.

The increased longevity of patients with cystic fibrosis has resulted in a concomitant increase in the frequency with which pneumothorax is seen. While several approaches to this problem have been available from both a medical and surgical standpoint, unsettled questions remain regarding the efficacy of various modalities of therapy. A review of our own experience with 170 episodes of pneumothorax has provided a basis for proposing what appears to be a reasoned approach to therapy.

Scotopic thresholds and plasma retinol in cystic fibrosis.

Patients with cystic-fibrosis (CF) often have low plasma concentrations of vitamin A. We have measured dark-adapted scotopic thresholds of 56 patients with CF, ages 4 to 34 years, either with a two-alternative forced-choice procedure or as the final threshold after a full dark-adaptation curve. Fasting plasma vitamin A alcohol (retinol) was measured in 34 of the 56 patients.

Pneumothorax in cystic fibrosis: management and outcome.

We reviewed our experience over the past 12 years to determine the best method of management, to determine the morbidity and the physiologic outcome of medical vs surgical treatment of pneumothorax complicating CF, and to assess the influence of age, sex, and Shwachman scores on survival. Sixty-five patients, ages ranging from 5 to 32 years (mean 18 years). Shwachman scores ranging from 25 to 87 (mean 57), and a male-female ratio of 1:1, experienced 170 pneumothoraces, 93 first episodes, and 77 recurrences, requiring 211 trials of management.

The effects of infantile malnutrition on behavioral development: a follow-up study.

Thirty-one children and young adults who had been severely malnourished in infancy due to intestinal disease, were compared with sibling controls for psychometric intelligence, academic performance as judged by teacher ratings, and developmental history as judged by parental questionnaires. Older members of the sample were also examined on the Lincoln-Oseretzky Motor Development Scale and by a brief psychiatric interview. There were no significant differences between patients and controls on any outcome measure.

Reappraisal of the chloride plate test as screening test for cystic fibrosis.

A rapid and simple screening test for detecting cystic fibrosis, described in 1956, has been used routinely for 21 years; the results during a 15-month period are compared with those using the quantitative pilocarpine iontophoresis sweat test. In the chloride agar plate test the concentration of chloride on the finger tips is evaluated accordingly to the intensity of the imprint. Readings of 2+ or less excluded cystic fibrosis in 1589 cases with only two doubtful instances, whereas 4+ readings were recorded in 198 cases of cystic fibrosis and 3+ readings in 15 cases of cystic fibrosis.

Thyroid gland function and pituitary TSH reserve in patients with cystic fibrosis.

In view of the reported enhanced sensitivity to iodide-induced hypothyroidism in patients with cystic fibrosis, studies were carried out to determine the possible mechanism of this abnormality. The intrathyroid organification of iodide, as assessed by the iodide-perchlorate discharge test, was normal in patients with cystic fibrosis, strongly suggesting that an organification defect was not present. The serum TSH response to TRH was not significantly different from the response in normal children and adolescents.

Cooperative study comparing three methods of performing sweat tests to diagnose cystic fibrosis.

Directors of cystic fibrosis centers in the United States have noted an increasing number of patients with histories of either false-positive or false-negative sweat tests. These inaccuracies were attributed to the use of rapid test methods which avoided actually weighing the sweat collected. These rapid tests have inherent difficulties which, theoretically at least, could lead to mistaken diagnoses.

Bronchial artery embolization in cystic fibrosis; technique and long-term results.

Severe bronchial hemorrhage in 13 patients with cystic fibrosis was treated by catheter embolization of bronchial arteries. Indications were either excessive bleeding persisting for several days, or bleeding serious enough to interfere with pulmonary drainage and recurring over weeks or months. In follow-up ranging from one to 30 months, cessation of major bleeding was achieved in 12 of 13 patients (93%), although 5 of 13 patients (40%) did have recurrence of minor hemoptysis.

Brain abscess and cystic fibrosis.

Brain abscess has only recently been considered a complication of cystic fibrosis. Three patients are reported here and a fourth cited from the literature. All of our patients were young adults with advanced pulmonary disease.

Vocational development and adjustment of adolescents with cystic fibrosis.

Adolescents with cystic fibrosis were compared with normal adolescents of the same age and educational grade on several measures of vocational development and adjustment. The cystic fibrosis group in ages 12--16 and in grades 7, 8, and 9 scored lower than their normal counterparts in measures of vocational and educational plans, and were less realistic than normals in considering their limitations and financial constraints. In contrast, the cystic fibrosis group at nearly all age and grade levels scored significantly higher on strength of commitment to vocational choice, work values, and awareness of occupational information.

Quality of sweat test performance in the diagnosis of cystic fibrosis.

The sweat test, correctly performed, appears to be reliable, but results were found to be unreliable about half the time in 84 small community hospitals assessed. The reasons are inexperienced and untrained technicians, the infrequency of test performance, the use of unstandardized equipment, and the lack of appropriate standards. It behooves all clinical laboratory directors to re-examine and standardize their procedures and use the recommendations of the Cystic Fibrosis Foundation.

Cystic fibrosis in adults: an autopsy study.

An annotated catalog of clinical and pathologic observations in an adult population with CF has been presented. The spectrum of disease is broad, and the diagnosis usually requires the demonstration of abnormalities in multiple systems. Tissues of each germ layer have been found involved in CF.