Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

PURPOSE: To summarize a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice. METHODS: Participants included experts from various relevant disciplines. Systematic reviews and data from individual trials were presented; issues were identified and discussed. RESULTS: Judged by published criteria, prenatal cystic fibrosis screening is suitable for introduction. Screening can be performed cost-effectively by identifying racial/ethnic groups at sufficient risk and then using either of two models for delivering laboratory services. Validated educational materials exist. Ethical issues are not unique. CONCLUSIONS: Once adequate facilities for patient and provider education, testing, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.

Technique for obtaining visibility amplitudes from atmospherically disturbed interferograms.

We describe the general data-reduction techniques that we developed to deal with stellar interferograms. The techniques that we describe here were used to obtain the fundamental visibility data from raw Earth-scanned interferograms obtained with the infrared Michelson array stellar interferometer. The reduced visibility data have resulted in new direct angular diameter measurements and effective temperature determinations for α Her, α Ori, and Mira. These astrophysical results were previously published. We point out that the data-reduction techniques described here are completely general in the sense that they can be used to reduce the data from any stellar interferometer that records the temporal data stream as the fringe packet is swept by the detectors.

Prescription-writing errors and markers: the value of knowing the diagnosis.

BACKGROUND AND OBJECTIVES: Duplicate prescription pads are used in many family practice residency programs to monitor prescribing patterns and detect errors in the actual prescription-writing process. This study looked at whether the review of duplicate prescriptions could be enhanced by adding the patient's diagnosis to the prescription. METHODS: The prescription-writing errors of Shaughnessy and Nickel were revised to include prescription-writing markers. These markers were defined as either an indication of use or a duration of therapy that differed from current medical literature or manufacturers' recommendations. Duplicate prescriptions of first-year family practice residents were reviewed for prescription-writing errors and markers before and after an in-service training regarding prescription writing. RESULTS: Following the in-service training, the number of prescriptions containing the patient's diagnosis increased significantly (20% to 61%). Nineteen percent of all prescriptions contained prescription-writing errors. Eight percent of the prescriptions with the patient's diagnosis contained prescription-writing markers. CONCLUSIONS: The addition of the patient's diagnosis to the prescription enhanced the review of duplicate prescriptions. It permitted the evaluation of not only the prescription-writing process but also the decision-making process that led to writing the prescription. It also permitted a more thorough evaluation of appropriate drug use.

Volcanic Activity on lo at the Time of the Ulysses Encounter.

The population of heavy ions in lo's torus is ultimately derived from lo volcanism. Groundbased infrared observations of lo between October 1991 and March 1992, contemporaneous with the 8 February 1992 Ulysses observations of the lo torus, show that volcanic thermal emission was at the low end of the normal range at all lo longitudes during this period. In particular, the dominant hot spot Loki was quiescent. Resolved images show that there were at least four hot spots on lo's Jupiter-facing hemisphere, including Loki and a long-lived spot on the leading hemisphere (Kanehekili), of comparable 3.5-micrometer brightness but higher temperature.

Consultations from a family medicine inpatient service.

The pattern and rate of consultation from a family practice residency program inpatient service were examined. The most frequently consulted medical specialty was cardiology; the most frequently consulted surgical specialty was general surgery. The overall consultation rate was 50%. The consultation rates for the most frequent discharge diagnoses were examined. Pediatric admissions were less likely to received consultations than adult or geriatric admissions. The results of this study suggest that family physicians are able to manage most of their hospitalized patients without consultation.

Hydrogen Sulfide on IO: Evidence from Telescopic and Laboratory Infrared Spectra.

Evidence is reported for hydrogen sulfide (H(2)S) on Io's surface. An infrared band at 3.915 (+/- 0.015) micrometers in several ground-based spectra of Io can be accounted for by reflectance from H(2)S frost deposited on or cocondensed with sulfur dioxide (SO(2)) frost. Temporal variation in the occurrence and intensity of the band suggests that condensed H(2)S on Io's surface is transient, implying a similar variation of H(2)S abundance in Io's atmosphere. The band was observed in full-disk measurements of Io at several orbital longitudes, including once at 24 degrees ( approximately 0.5 hour after Io's reappearance after an eclipse)-but not after another reappearance at 22 degrees -and once at 95 degrees (on Io's leading hemisphere). These results suggest that condensed H(2)S is sparse and variable but can be widespread on Io's surface. When present, it would not only produce the infrared band but would brighten Io's typical surface at ultraviolet and visible wavelengths.

Hypertension in a child with type IA glycogen storage disease.

Hypertension and proteinuria were observed in a 2-year-old child with type IA (von Gierke's) glycogen storage disease (GSD). She had evidence of hyperfiltration and had elevated selective renal vein renins. On renal biopsy, increased mesangial cell matrix and cellularity were observed with focal thickening and irregularity of the basement membrane. This case may be representative of the early renal findings in type IA GSD.

Echocardiographic abnormalities in the mucopolysaccharide storage diseases.

The mucopolysaccharide storage diseases express themselves clinically with a wide variety of abnormalities, including growth and mental retardation, skeletal abnormalities, clouded corneas, nerve compression syndromes, upper airway obstruction and cardiovascular involvement, to name the most common. In most cases the cause of early death is cardiorespiratory failure secondary to cardiovascular involvement and upper airway obstruction. The findings of cardiac ultrasound examination in 29 children, adolescents and young adults are presented. In addition to the previously well-described abnormalities of the mitral and aortic valves in several types of mucopolysaccharide storage disease, we report patchy involvement in some cases, 3 instances of asymmetric septal hypertrophy not previously reported in mucopolysaccharide storage diseases, cardiac involvement in half of our patients with Sanfilippo syndrome and a lack of age-related severity of cardiac involvement even within the specific syndromes.

Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses.

Sixteen magnetic resonance (MR) studies were performed in eight patients with mucopolysaccharidosis (MPS). In patients with Hunter, Hurler, and Scheie syndromes, multiple areas of increased signal intensity were noted in the periventricular white matter. Computerized tomography (CT) frequently failed to demonstrate these white matter lesions. Other findings included spinal cord compression, hydrocephalus and airway obstruction due to soft tissue thickening around pharynx. In patients with Morquio syndrome, cervical spine dislocation, spinal cord compression and hydrocephalus were diagnosed by MR. MR was superior compared to CT, plain films and plain tomography, as the narrowing caused by bone and soft tissue changes were better seen with MR. Our experience suggests that MR should be the primary imaging modality for the detection of cranial abnormalities in patients with MPS. High resolution surface coil imaging may be preferable to invasive procedures such as myelography and CT with intrathecal contrast agents for the evaluation of cervical spine disease.

Ectodermal manifestations in Menkes disease.

Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.

Infrared speckle observations of io: an eruption in the loki region.

Speckle observations of Jupiter's satellite Io at a wavelength of 5 micrometers during July 1984 resolved the disk and showed emission from a hot spot in the Loki region. The hot spot contributed a flux approximately equal to 60 percent of that from the disk. Images reconstructed by means of the Knox-Thompson algorithm showed the spot moving across the disk as the satellite rotated. It was located at 301 degrees +/- 6 degrees west longitude, 10 degrees +/- 6 degrees north latitude, and had a radiance of (2.96 +/- 0.54) x 10(22) ergs sec(-1) cm(-1) sr(-1)/A where A is the area of the spot. For an assumed temperature of 400 K, the area of the source would be 11,400 square kilometers. An active "lava lake" similar to that seen by Voyager may be the source of the infrared emission.