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Biomedical subjects

S Degani

Publications and source records attributed to S Degani.

At least 19 recordsLinked to original sources

Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.

Two infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents. One infant died at age 2 months, and the other is currently 3.5 years old. A third pregnancy was terminated following ultrasonographic visualization of large echo-dense fetal kidneys and polydactyly. Although none had apparent brain anomalies, they were considered to represent the Meckel syndrome. Extinguished responses on electroretinography in our 3.5-year-old patient has led to the diagnosis of Bardet-Biedl syndrome. This observation offers an opportunity to revisit the Bardet-Biedl syndrome and provides further evidence that structural renal abnormalities are characteristic of the syndrome. We wish to alert the clinician to the diagnosis of Bardet-Biedl syndrome in patients with infantile cystic kidney dysplasia.

Cerebellar Diseases

Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations.

A diagnosis of the Neu-Laxova syndrome (NLS) was made by ultrasonography at 32 wks of gestation. Ultrasonographic examination showed intrauterine growth retardation (IUGR), Dandy-Walker anomaly, choroid plexus cysts, receding forehead and microcephaly, bilateral cataract without prominent eyes, scalp edema with no generalized edema, retrognathia, curved penis, and flexion deformities of limbs. The findings in this case are consistent with NLS; however, they did not fit any of Curry's [1982] groups. Massive swelling of hands and feet were among the main manifestations in classic NLS cases. In the case presented herein, edema was noted only in the scalp. This might shed further light on the question of variability vs. heterogeneity in the NLS. This case shows the existing possibility of an early diagnosis of NLS and adds Dandy-Walker anomaly and choroid plexus cysts as new findings to this syndrome.

Abnormalities, Multiple

Doppler flow velocity waveforms in fetal surveillance of twins: a prospective longitudinal study.

In 37 consecutive twin pregnancies, monthly Doppler sonographic measurements were made of blood flow velocity waveforms of the internal carotid and umbilical artery of each fetus. A total of 197 Doppler studies were performed. Of the 74 infants, 23 were small for gestational age (SGA). Thirty-five of the SGA Doppler studies were abnormal, giving an overall sensitivity for predicting SGA fetus of 58% and a positive predictive value of 71%. These data are not as sensitive and specific as our earlier data; however, Doppler criteria preceded sonographic diagnosis of SGA by a mean interval of 3.7 weeks and demonstrated better sensitivity and specificity. A combination of these parameters improves sensitivity to 84%. We conclude that Doppler velocimetry complements real-time ultrasonography for the early diagnosis of abnormal growth in twin pregnancies.

Blood Flow Velocity

[Fetal echocardiography].

Fetal echocardiography is an ultrasonic technique for the diagnosis of cardiac defects and fetal arrhythmias. During 1981-1990 we examined 1800 women referred for elective examinations from all over the country. Most, at high risk for fetal cardiac anomalies, were examined in the 22nd week of gestation. Others were examined whenever a fetal arrhythmia or a cardiac defect was suspected. In 251 fetuses (13.9%) pathological cardiac conditions were found, and structural heart defects in 51 (2.8%). When a cardiac defect with poor prognosis was diagnosed during the 2nd trimester, termination of pregnancy was suggested. In 35% of these cases termination of pregnancy was accepted. In 12% of the women examined spontaneous intra-uterine fetal death had occurred, while in 52% live babies were born, but half died within 6 months. In 215 fetuses (11.9%) a cardiac arrhythmia was found, which in 73% consisted of supraventricular premature beats. In 15.8% the fetus was endangered by the arrhythmia, mainly supraventricular tachycardia, atrial fibrillation or atrial flutter. Treatment was by drugs administered to the mother. In 1 case of complete A-V block echocardiographic follow-up demonstrated rapid deterioration of heart function. Delivery was induced and a pacemaker was implanted in the newborn.

Arrhythmias, Cardiac

Fetal and uteroplacental flow velocity waveforms and placental grading.

Doppler studies were performed on umbilical, fetal internal carotid, and arcuate arteries within 36 to 40 weeks of gestation in 85 women (66 with healthy pregnancies and 18 complicated by growth retardation, and results were analyzed by calculating the pulsatility index. In each case the placenta was examined and graded sonographically. No significant correlation was found between pulsatility index in fetal and uteroplacental vessels and placental grading in normal pregnancies. This suggests that tissue changes responsible for the echogenicity of maturing placenta are not directly related to vascular impedance of the placental vascular bed.

Adult

Flow-velocity profiles of the fetal aorta and umbilical artery in pregnancies complicated by pregnancy-induced hypertension and fetal growth retardation.

Sixty-seven women undergoing ultrasonographic evaluation in the high-risk clinic were randomly recruited to be examined by a newly developed computerized method that presents flow-velocity profiles derived from pulsed Doppler-generated flow-velocity waveforms. Each woman had pulsed Doppler flow velocimetry of the fetal aorta and umbilical arteries done. Subjects were either normal controls (N = 20) or had pregnancies complicated by pregnancy-induced hypertension (N = 29), fetal growth retardation (N = 11), or both (N = 7). Distinct patterns of flow-velocity distribution across the fetal aorta and proximal umbilical arteries were identified in the pregnancies characterized by increased placental resistance. At peak systole, normal velocity was maintained only at a narrow area around the center of the vessel, whereas velocity in the rest of the vessel area was markedly reduced. These changes were present in 40 of 47 subjects (85.1%) with complicated pregnancies, whereas 27 of 47 (57.4%) had umbilical artery systolic-diastolic ratios above the 95th percentile. No significant differences between normal and complicated pregnancies were seen during diastole. Our findings suggest that increased placental resistance results in a redistribution of velocities within fetal blood vessels, often before maximal end-diastolic velocity is decreased.

Adult

Fetal internal carotid artery pulsed Doppler flow velocity waveforms and maternal plasma glucose levels.

Eighteen women at 32-36 weeks' gestation were studied by pulsed Doppler (duplex) for recording blood flow velocity waveforms from the umbilical artery and fetal intracranial internal carotid artery. The pulsatility index was calculated for each artery separately. Each subject was investigated when fasting and 1 hour after a 100-g glucose load. Increases in maternal plasma glucose concentration of 30 mg/dL or more were followed by elevation of the mean pulsatility index in the umbilical artery from 0.9 +/- 0.22 to 1.08 +/- 0.18 (P less than .01) and in the internal carotid artery from 1.17 +/- 0.19 to 1.8 +/- 0.47 (P less than .001). The findings suggest a compensatory increase in cerebrovascular resistance during increases in glucose levels.

Blood Flow Velocity

Fetal blood flow velocity waveforms in pregnancies complicated by intrauterine growth retardation.

Fifty-three pregnancies suspected for a small-for-gestational age fetus (SGA) by ultrasonographic weight estimation (below the 10th percentile of Brenner nomograms) were studied using pulsed Doppler (Duplex) for recording fetal blood flow velocity waveforms from the umbilical artery and fetal internal carotid artery. The pulsatility index (PI) for each artery was calculated as an index of vascular resistance. The gestational age ranged from 29 to 40 weeks. In 42 cases an SGA newborn was delivered (according to Brenner tables corrected for maternal parity and fetal sex), 34 newborns were SGA according to Usher and McLean (2 SD below the mean). Fetal structural and/or chromosomal defects were found in four cases, all of which showed symmetric intrauterine growth retardation and normal PI values in the fetal internal carotid artery. After excluding the infants with congenital abnormalities and using nomograms constructed for our own population, the ratio between the PI of the umbilical artery and the internal carotid artery was found to be the best predictor of SGA (sensitivity 84.2%, specificity 90.9%, positive predictive value 97.0%, negative predictive value 62.5%). Using the more demanding criteria for SGA according to Usher and McLean, sensitivity improved to 100%, specificity was 80.0%, positive predictive value 87.9%, and negative predictive value 100%.

Blood Flow Velocity

Ultrasound assessment of the bladder volume after anterior colporrhaphy.

In 40 gynecological patients 44 different determinations of the bladder volume were made using ultrasonic methods. The product of bladder depth, height, and width, as determined from transverse and sagittal scans, showed the best correlation with the bladder volume measured by urethral catheter (r = 0.981). For 73% of the measurements the error was under 20% when the true bladder volume was greater than 100 cm3. This method gives a reasonable assessment of the bladder residual volume. It is quick, safe, and repeatable and, therefore, useful in postoperative clinical practice.

Adult

Maternal echocardiography in hypertensive pregnancies.

Echocardiographic hemodynamic and left ventricular parameters were determined in 14 normotensive and 18 hypertensive women during the last trimester of pregnancy. The hypertensive patients had significantly higher mean values of total peripheral resistance (p less than 0.001), maximum velocity of posterior wall motion (p less than 0.05), mean velocity of circumferential fiber shortening (p less than 0.01) and percent fiber shortening of left ventricular diameter (p less than 0.05). The mean values for heart rate, stroke volume, cardiac output, cardiac index, left ventricular posterior wall thickness and septal thickness did not differ significantly in both groups. These results reflect increased cardiac contractility related to elevated peripheral vascular resistance in subjects with pregnancy-induced hypertension.

Adult