Fetal ear length measurement: a useful predictor of aneuploidy?

OBJECTIVE: To determine the usefulness of short ear length (EL) measurement in the prenatal detection of fetuses with chromosomal abnormalities. DESIGN: Fetal EL measurements, routine biometry and complete anatomic survey for fetal abnormalities were prospectively performed by antenatal sonography. SUBJECTS: One thousand eight hundred and forty-eight patients with singleton pregnancies undergoing genetic amniocentesis in the second or third trimester. METHODS: Complete data for EL, biometry and anatomic survey for major structural abnormalities and minor sonographic markers of chromosomal abnormality were available in 1311 fetuses. Of these, 48 (3.7%) had an abnormal karyotype and 1263 (96.3%) had a normal karyotype. Using an EL measurement of < or = 10th percentile for corresponding gestational age in normal fetuses as abnormal cut-off values, detection rates for chromosomal abnormalities by short EL were determined. RESULTS: Among the 48 abnormal karyotypes, 34 were considered significant, and 11 of these 34 (32.4%) fetuses had short EL. In 14 cases, the karyotypic abnormality was considered non-significant and fetal EL was normal in all cases. Of the 34 fetuses with significant chromosomal abnormalities, six (17.6%) on antenatal sonography had no detectable abnormal findings, other than short EL. An increased biparietal diameter (BPD)/EL ratio of > or = 4.0 was also noted in fetuses with an abnormal karyotype, but the sensitivity and predictive value of increased BPD/EL ratio alone or increased BPD/EL ratio in combination with short EL was no better than the sensitivity and predictive value of short EL alone. A combination of short EL and abnormal ultrasound, however, gave a much higher positive predictive value (46%) for significant chromosomal abnormalities. CONCLUSIONS: Our findings suggest that in women at high risk for fetal chromosomal abnormality, a short fetal EL measurement on prenatal ultrasound, either alone or in combination with other sonographically detectable structural abnormalities, may be a useful parameter in predicting fetal aneuploidy.

Spirometer-triggered high-resolution computed tomography and pulmonary function measurements during an acute exacerbation in patients with cystic fibrosis.

OBJECTIVE: To evaluate a high-resolution computed tomography (HRCT) scoring system, clinical parameters, and pulmonary function measurements in patients with cystic fibrosis (CF) before and after therapy for a pulmonary exacerbation. STUDY DESIGN: Patients (n = 17) were evaluated by spirometer-triggered HRCT imaging, clinical parameters, and pulmonary function tests (PFTs) before and after treatment. HRCT scans were reviewed by 3 radiologists using a modified Bhalla scoring system. RESULTS: Bronchiectasis, bronchial wall thickening, and air trapping were identified in all subjects on initial evaluation. The initial total HRCT score correlated significantly with the Brasfield score (r = -.91, P <.001) and several PFT measures. After treatment, there were improvements in the acute change clinical score (ACCS) (P <.001), most pulmonary function measurements, and total HRCT score (P <.05). Bronchiectasis, bronchial wall thickening, and air trapping did not significantly change. Mucus plugging subcomponent HRCT score, slow vital capacity (SVC), forced expiratory volume in 1 second (FEV(1)), and forced vital capacity (FVC) (percent predicted) and reversible and total HRCT scores were most sensitive to change by effect size analysis. CONCLUSIONS: Improvements occurred with treatment in total and reversible HRCT scores, PFTs, and ACCS. Total and reversible HRCT scores and percent predicted SVC, FEV1, and FVC were the most sensitive to change. The greatest change was seen in the mucus plugging subcomponent HRCT score.

Ultrasonographic ear length measurement in normal second- and third-trimester fetuses.

OBJECTIVE: We sought to develop a nomogram for fetal ear length measurements from a large population of healthy second- and third-trimester fetuses and to investigate the correlation of fetal ear length with other standard fetal biometry measurements, as follows: biparietal diameter, head circumference, abdominal circumference, femur length, and humerus length. STUDY DESIGN: Ear length measurement was obtained prospectively in 4240 singleton fetuses between 15 and 40 weeks' gestational age. Either complete data for normal karyotype on amniocentesis or normal infant examination at birth or both were available in 2583 cases. These constituted the final study population. RESULTS: A nomogram was developed by linearly regressing ear length on gestational age (Ear length [in millimeters] = 1.076 x Gestational age [in weeks] - 7. 308). There was a high correlation between ear length and gestational age (r = 0.96; P =.0001). CONCLUSION: The results of this study provide normative data on growth of fetal ear length from 15 to 40 weeks' gestation. Good correlation was also observed between ear length and other fetal biometric measurements (biparietal diameter, head circumference, abdominal circumference, femur length, and humerus length).

Tissue oxygen distribution in head and neck cancer patients.

BACKGROUND: The importance of hypoxia in limiting the sensitivity of tumor cells to ionizing radiation has long been known. METHODS: We evaluated the tissue oxygenation status with a polarographic needle electrode system in 37 patients with malignancies of the head and neck and correlated the pO2 of 25 patients with treatment outcome. RESULTS: Sixteen tumors contained areas of severe hypoxia, defined by pO2 values below 2.5 mm Hg. Tumor oxygenation parameters were not correlated with hemoglobin, age, and history of tobacco use. There were no subcutaneous PO2 values below 10 mm Hg (ie, no areas of moderate or severe hypoxia), whereas this degree of hypoxia was commonly found in the tumors. Though not statistically significant, hypoxic tumors showed trends for poorer treatment outcome. CONCLUSION: Our data demonstrate a great interindividual variability in the oxygenation of head and neck cancers and appears unassociated with clinical parameters. The method is capable of identifying patients with poorly oxygenated tumors, thereby providing important information for selecting patients who might need customized therapy designed to kill hypoxic tumor cells. Hypoxic tumors show a consistent trend for poor treatment outcome.

Postural balance measurements for children and adolescents.

Measurements of standing balance were determined for 92 children and adolescents, 5-18 years old, while they stood on a force plate with eyes open or eyes closed. The measurements included center-of-pressure calculations for path length per second, average radial displacement, anterior-posterior and mediolateral amplitudes, area per second, mean frequency of sway, Brownian random motion measure of short-term diffusion coefficient, and long-term scaling exponent. All balance parameters improved from youngest to oldest subjects, and the parameters improved when measured with the subjects' eyes open compared with closed. The mean values for data from three trials varied by only 5% when compared with the mean values from 10 trials. Data from this study suggest that force-plate center-of-pressure data can be used to determine differences in standing balance between children and adolescents of different ages and those with movement and balance abnormalities.

The relationship of running to osteoarthritis of the knee and hip and bone mineral density of the lumbar spine: a 9 year longitudinal study.

OBJECTIVE: To determine the associations between running and radiographic hip osteoarthritis (OA), the progression of radiographic knee OA, and changes in bone mineral density (BMD) after 9 year followup in 28 members of a running club now aged 60-77 years and 27 nonrunner controls. METHODS: Running subjects and nonrunning controls were matched for age (+/- 2 years), years of education, and occupation. All subjects underwent rheumatologic examination, completed annual questionnaires, and had radiographs taken of the knees in 1984, 1986, 1989, and 1993 and of the hips in 1993. BMD of the first lumbar spine vertebrae was obtained in 36 subjects by quantitative computed tomography (QCT) in 1984, 1986, 1989, and 1993. In 1993, knee radiographs were assessed in pairs (1984 and 1993), and hip radiographs were scored by 2 readers individually without knowledge of running status. RESULTS: Nine year radiographic results for both runners and nonrunners for the knees showed significant within-group progression of both osteophytes and total knee radiographic scores (p = 0.01 for runners and p = 0.05 for nonrunners) and joint space narrowing in nonrunners (p = 0.01). Runners tended to have higher radiographic scores, but no significant differences in between-group differences were seen in 1984 or 1993. Radiographic OA of the hip was not different between the groups. QCT of the first lumbar vertebrae for BMD in 1984, 1986, 1989, and 1993 was greater in runners than nonrunners (p = 0.01), but rates of change in QCT values were similar between the 2 groups (p < 0.001). CONCLUSION: The presence of radiographic hip OA and the progression of radiographic knee OA was similar for older runners and nonrunners. Lumbar spine BMD remained higher in runners, but changes in lumbar BMD were similar for runners and nonrunners over a 9 year period.

Clinical variability in congenital fiber type disproportion.

Congenital Fiber Type Disproportion (CFTD) has recently been described as a consistent and stereotyped clinicopathological entity, including congenital nonprogressive hypotonia and weakness, contractures, kyphoscoliosis, high arched palate, dislocated hips, short stature, and feet deformities. Our personal experience with this condition suggests a wider disparity in the physical appearance and associated abnormalities of affected individuals than the well-defined clinical syndrome previously described. We are presenting 5 cases, including 2 siblings, whose muscle biopsies satisfy the major histological and statistical criteria for the diagnosis. Although each child clearly had hypotonia and weakness consistent with a congenital myopathy, only 3 had a sufficient number of other similarities to establish the diagnosis clinically. The clinical spectrum of the other cases ranged from one infant whose only abnormality was mild hypotonia in the legs to another whose problems included severe motor impairment, marked mental retardation, growth failure, frontal bossing, abnormal hair, and scoliosis. Even in retrospect, the diagnosis of CFTD could not have been supported on clinical grounds alone. Therefore, CFTD is a congenital myopathy whose diagnosis can be made only by muscle biopsy, rather than a distinct syndrome whose diagnosis can be assumed on the basis of clinical characteristics alone.