Comparison of forearm plethysmography methods with brachial artery pulsed Doppler flowmetry in man

Summary. Blood flow in the forearm was evaluated using simultaneous measurements of pulsed Doppler flowmetry and strain-gauge plethysmography in 32 normal subjects and 91 patients with sustained essential hypertension. The two determinations of blood flow were strongly correlated (r = 0·58). Measurements with strain-gauge plethysmography reflected changes in blood flow velocity but were poorly correlated with changes in arterial diameter as measured by pulsed Doppler flowmetry. The latter method permits evaluation of instantaneous variations in blood flow velocity and detection of active modifications of arterial diameter.     

Reflections on a series of 39 cases of primary vesico-renal reflux in adults

The authors report thirty nine cases of primary vesicorenal reflux in adults, involving sixty nine ureters. The series includes two women for every three men, with an onset normally in the twenties (the average age was 28 years and 6 months). In 86.6% of the patients, the disorder was revealed by urinary infections, and the case history extended back over an average of eight years. The urinary infection had a severe impact on the renal parenchyma, so that 54% of the patients presented with bilateral parenchymal lesions. Isotopic cystography appears to provide a more sensitive diagnostic tool than conventional radiological cystography, and the radiation effects are far less pronounced, so that the examination can be repeated more frequently in search of intermittent refluxes in patients with pyelonephritic lesions. The surgical management is by uretero-vesical reimplantation. The authors presently prefer Cohen's technique, which gives 88% good results. On the other hand, after surgical élimination of the urinary infection, the pyelonephritic lesions or renal insufficiency are irreversible, but they remain stable.     

Role of First‐Trimester Sonography in the Diagnosis of Aneuploidy and Structural Fetal Anomalies

Objective. We sought to determine the sensitivity of the first‐trimester scan in the early diagnosis of aneuploidy and structural fetal anomalies in an unselected low‐risk population. Methods. This was a retrospective chart review of all patients having first‐trimester scans between 2002 and 2009. At our center, a survey of fetal anatomy is performed at the time of nuchal translucency assessment at 11 weeks to 13 weeks 6 days. A second‐trimester scan is done at 20 to 23 weeks and a third‐trimester scan at 32 to 35 weeks. Isolated sonographic findings of choroid plexus cysts and echogenic intracardiac foci were excluded. Lethal anomalies and those requiring immediate surgical intervention at birth were considered major structural anomalies. All scans were performed by a single sonologist certified by the Fetal Medicine Foundation. All neonates were examined at birth by a pediatrician. Results. Our study included 1370 fetuses. Six cases of aneuploidy (0.4%) were detected. The first‐trimester scan detected 5 of 6 cases of aneuploidy (83%), confirmed by karyotype. There were 36 cases of structural fetal anomalies (2.6%); 20 (1.5%) were major anomalies. The first‐trimester scan detected 16 of 36 (44%); 20 (56%) were identified by second‐ or third‐trimester scans. The first‐trimester scan detection rate for major structural anomalies was 14 of 20 (70%). The 5 that were missed by the first‐trimester scan were detected by a second‐trimester scan. Conclusions. Our study emphasizes the importance of the first‐trimester scan in the early detection of aneuploidy and structural fetal anomalies. In this small unselected low‐risk population, the first‐trimester scan detected 83% of aneuploidies and 70% of major structural anomalies. Our results are comparable to previously published studies from other centers and further exemplify the invaluable role of the first‐trimester scan in the early detection of aneuploidy and structural anomalies in an unselected low‐risk population.     

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador

Purpose: To determine the role of cytochrome P4501B1 ( CYP1B1 ) mutations in causing primary congenital glaucoma (PCG) in a cohort of Native Americans from Quito, Ecuador. Materials and methods: Seventeen patients with PCG from 15 Native American families were recruited from the Ophthalmology Clinic at Hospital Metropolitano, Quito, Ecuador. Experienced ophthalmologists examined all affected study subjects. Purified DNA was prepared from peripheral blood samples and CYP1B1 coding exons (exons 2 and 3) were amplified and sequenced. Southern blot was performed only on those affected patients who showed no mutations in the CYP1B1 coding exons. Results: The molecular basis of PCG in two families was determined: two novel mutations (a deletion and a point mutation) and one novel polymorphism in CYP1B1 were identified in addition to a previously described single amino acid substitution. Southern blot analyses on whole genomic DNA from affected individuals in whom no mutations were identified by the direct PCR/sequencing approach did not detect any large rearrangements or mutations outside the coding region. Conclusion: These findings suggest that mutations in CYP1B1 are not a major cause of PCG in this population and that at least one additional locus for this condition is responsible for most cases. Further, the PCG phenotype did not correlate readily with the molecular basis of the disorder, suggesting that careful clinical analysis of the phenotype cannot predict the molecular basis of the disease with accuracy.