Biomedical subjects
Publications and source records attributed to M Feingold.
We report on 2 unrelated patients with microcephaly, lymphedema, and chorioretinal changes. They are compared with previously reported patients with microcephaly and lymphedema and microcephaly with chorioretinal changes. The question is raised whether all of these patients represent one entity or are separate syndromes. Until more data are available we propose that our patients represent a single entity.
We sought to evaluate the utility of quantitative sensory testing (QST) and nerve conduction velocity (NCV) studies as measures of distal symmetric polyneuropathy (DSP). We studied 36 diabetic patients divided into four clinical categories of increasing severity. QST included thermal testing and vibration thresholds. NCV studies included median, peroneal, and sural nerves. Results of QST and NCV were compared among clinical groups using survival methodology. The log-rank statistic showed significant differences among the groups; the direction of the differences were consonant with clinical severity. For each diabetic patient, the result of each measurement was classified as normal or abnormal; more diabetic patients had abnormal NCV than either vibration tests or thermal tests. In conclusion, findings of QST and NCV are in keeping with clinical categorization of patients, QST and NCV are complementary tests, and the sural sensory study is the best single predictor of DSP.
We compared dual-energy x-ray absorptiometry (DXA) for measurement of the radius with the conventional single-photon absorptiometry (SPA) method. To evaluate reproducibility, 34 healthy male and female subjects were measured twice each by both methods. While the instruments measured bone mineral content (BMC) similarly, projected area was consistently lower by SPA and therefore bone mineral density (BMD) was higher by an average of 10%. We report similar coefficients of variation for the two methods, which are 0.8% (SPA) and 0.7% (DXA) for BMC (P = 0.71) and 0.8% (SPA) and 1.4% (DXA) for BMD (P = 0.02). We also evaluated the relationship between the methods with data from 196 clinic patients who were measured once each on both instruments. The BMD measurements from the two instruments were highly correlated (r = 0.97) in these patients, which permits the conversion of databases from SPA to DXA-equivalents. We conclude that DXA can replace SPA for radial bone densitometry.
Primary neoplasms of the lung composed of small cells consist of undifferentiated small cell carcinoma (UCS), carcinoid tumors (CT) and some non-small cell carcinomas (NonSC) that lack cytoplasmic differentiation. The cytologic identification of tumors from specimens obtained via bronchoscopy sometimes presents difficulties due to overlapping patterns. In order to define additional differentiating criteria, we evaluated Papanicolaou-stained smears from 30 histologically proven cases, 10 from each of the three groups, with statistical analysis of computer-assisted morphologic measures. We identified significant differences between NonSC versus USC and NonSC versus CT with regard to nuclear and cytoplasmic dimensions (P less than .0001) but not between USC and CT. The nuclear:cytoplasmic ratios were similar in all three groups (P = .39). From this preliminary study we conclude that morphometric analysis can distinguish NonSC from USC and CT but not USC from CT.
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A possible relationship between the antibacterial activity of amniotic fluid and its peroxidase content was examined. Antibacterial activity, assessed by counting colonies of S. aureus following 24 hour incubation, was present in 76% of the samples studied. It was not related to gestational age. Peroxidase activity, assessed by the O-dianisidine method, was not found in any of the amniotic fluid samples examined.
In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.
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We present a report on 16 patients with Goldenhar's syndrome. The criteria we required for the diagnosis of Goldenhar's syndrome consisted of an eye abnormality (lipoma, lipodermoid, epibulbar dermoid, or upper eyelid coloboma) associated with ear, mandibular, or vertebral anomalies (two of the three). Although Treacher Collins' syndrome can be easily differentiated from Goldenhar's syndrome, the differences between Goldenhar's syndrome and hemifacial microsomia are more difficult to delineate.