Search PubMed⌕ Search

Biomedical subjects

B Goldman

Publications and source records attributed to B Goldman.

At least 91 records · Page 5Linked to original sources
PubMed1995

Fetal midgut herniation into the umbilical cord: improved definition of ventral abdominal anomaly with the use of transvaginal sonography.

The most common anomalies of the fetal ventral abdominal wall include omphalocele and gastroschisis. Umbilical cord hernia is another abdominal wall defect that is poorly defined and usually mistakenly considered as a small omphalocele. The present report describes the sonographic features and clinical significance of four cases of umbilical cord hernia identified transvaginally in the early second trimester of pregnancy. These cases seemed to present a different entity from that of simple omphalocele. The transvaginal sonographic approach provided a clear image of the midgut protruding into the umbilical cord, precise localization of cord insertion in the region of the umbilical ring. Doppler flow evaluation of the umbilical vessels and their relation to the protruding mass. Serial sonographic observations revealed a stable umbilical cord mass in three fetuses, and an enlarging mass in one. Normal karyotype was determined and no associated malformations were detected prenatally. However, in one case that underwent immediate correction of the hernia after delivery at term, the neonate was subsequently found to have pulmonic stenosis and severe neonatal seizures developed at 4 months of age. In two cases, pregnancy was terminated due to parental request. The fourth fetus was delivered vaginally at term and catastrophic division of the umbilical cord containing a loop of small intestine was avoided only by the diligent observation of the midwife. We suggest that umbilical cord hernia is a distinct anomaly originating at a different stage of embryogenesis, thereby having a unique clinical significance, unlike simple omphalocele. Umbilical cord hernia should therefore be defined and considered as a separate entity.

Abdominal Muscles↗
PubMed1995

Fetal lateral neck cysts: early second-trimester transvaginal diagnosis, natural history and clinical significance.

The objective of the study was to explore the natural history and clinical significance of lateral neck cysts during the early second trimester of pregnancy. A survey was conducted of pregnant women at 12-15 weeks' gestation who presented at the ultrasonographic unit between January 1991 and December 1994. During the 4-year period, of the 1500 fetuses scanned, 42 fetuses with lateral neck cysts were detected by high-resolution transvaginal ultrasonography. Twenty-six of the 42 fetuses were seen to have isolated lateral neck cysts, and 16 demonstrated a combination of nuchal thickness of > or = 4 mm and lateral neck cysts. Natural history, fetal karyotype and pregnancy outcome were compared between these two groups. None of the fetuses with isolated neck cysts had an abnormal karyotype, and all cysts resolved spontaneously at 16-20 weeks. No congenital abnormalities were found among the 26 cases. Four chromosomal abnormalities (three trisomy 21 and one monosomy XO) were detected among the 16 fetuses with combined lesions, resulting in termination of pregnancy in all. Among the remaining 12 fetuses, spontaneous resolution of the neck findings occurred between 16 and 20 weeks' gestation. The finding of isolated lateral neck cysts in the early second trimester is not associated with increased risk of aneuploidy. However, the combination with nuchal thickness of > or = 4 mm should prompt genetic counselling and consideration of karyotyping, since this delay in maturation of the cervical jugular lymphatic communication may be associated with chromosomal aberrations.

Adult↗
PubMed1995

Fetal pleural effusion: the risk of fetal trisomy.

Our objective was to review the association between fetal pleural effusion (FPE) and fetal aneuploidy. We conducted a retrospective survey of pregnant women who presented to our ultrasonographic unit between 1990 and 1991, and in whom the diagnosis of FPE was reached. All fetuses had karyotype investigation and a complete ultrasonographic search for associated anomalies. Six cases of FPE were identified. Trisomy 21 was found in 2 (33%). The English literature was reviewed and an additional 147 cases with FPE were collected, among them 6 cases of trisomy 21 and 1 of monosomy 45X. In this accumulated series the risk of aneuploidy in a fetus with an incidental finding of FPE was 5.8% (9 of 153), thus warranting a karyotype study.

Adult↗
PubMed1994

c-myc gene expression is localized to the myocyte following hemodynamic overload in vivo.

Expression of the proto-oncogene c-myc increases in the hemodynamically overloaded heart, but expression by cardiac myocytes has not been shown. To address this issue, right ventricular overload was induced in cats by pulmonary artery banding. Expression of c-myc and alpha-skeletal actin mRNA were determined by Northern analysis. Immuno-reactive Myc protein was identified by histochemical staining. Steady state levels of c-myc mRNA peaked within 2 h after banding. Levels of alpha-skeletal actin mRNA were maximally increased 48 h-1 week after banding and were still elevated at 1 month. Prominent staining of myocyte nuclei for immunoreactive Myc protein was detected 48 h after banding although a few interstitial nuclei were also positive. These studies show that c-myc and alpha-skeletal actin gene expression are upregulated in a large animal model of hemodynamic overload. The localization of the immunoreactive Myc protein to right ventricular myocyte nuclei after pulmonary artery banding supports the hypothesis that c-myc induction is part of a general response in cardiac hypertrophy that is common to many mammalian species.

Actins↗
PubMed1994

The association between alpha-fetoprotein and beta hCG levels prior to and following chorionic villus sampling in cases that spontaneously miscarried.

Maternal serum alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (beta hCG) measurements taken prior to chorionic villus sampling (CVS) in 21 patients who subsequently miscarried were compared with measurements in a control group of 113 patients with uneventful pregnancies. Patients with AFP levels of 10 iu/ml or more prior to the CVS had a 4.3 times greater risk of miscarriage (95 per cent confidence interval 1.3-13.6). AFP levels obtained 1 week after the CVS in the 13 patients with late miscarriages were higher than in the control group (P = 0.06). Patients miscarrying had a greater rise in AFP (P = 0.06) and a greater fall in beta hCG levels (P = 0.04) following the CVS procedure, compared with the control subjects. Each 10-unit change in the difference between AFP or beta hCG levels prior to and 1 week following the CVS was associated with a significantly increased risk for late miscarriage. Elevated maternal serum AFP levels early in pregnancy and changes in AFP and beta hCG levels following CVS may predict an increased risk for subsequent miscarriage.

Abortion, Spontaneous↗
PubMed1994

Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews.

Tay-Sachs disease (TSD) is caused by mutations in the gene encoding the alpha-subunit of beta-hexosaminidase A (HexA). This disease is more prevalent in certain ethnic groups such as Jews of Ashkenazi origin. Three mutations are most commonly found among the latter population: a 4-nucleotide insertion in exon 11, a transversion at the splice site in intron 12, and the adult onset mutation in exon 7. The frequency and distribution of these mutations among Ashkenazi and non-Ashkenazi Jews were examined: 96% of the Ashkenazi carriers bore one of these mutations, while in only 30% of the non-Ashkenazi Jewish carriers were the mutations identified. The percentage distribution of the exon 11:intron 12:exon 7 and unidentified mutant allele(s) was 82:10:4:4 among 152 Ashkenazi carriers, and 16:12:2:70 among non-Ashkenazi Jewish carriers. When the non-Ashkenazi Jewish population was divided into two groups according to the geographical distance from Eastern Europe, it was obvious that the ancestral origin of the subjects bearing the exon 11 allele was predominantly from countries bordering Eastern and Central Europe, such as Turkey, Bulgaria, and Georgia. In carriers from other geographical areas of North Africa and the Middle East, this allele was about fivefold less frequent. The result is compatible with the assumption that this gene, of which the tested individuals were unaware, originates from interethnic marriage in neighboring populations. However, regardless of the ancestral origin, the intron 12 allele was quite evenly distributed throughout the Jewish population.(ABSTRACT TRUNCATED AT 250 WORDS)

Alleles↗
PubMed1994

Restraint reduction: can it be achieved?

This article describes a step-by-step process for implementing restraint reduction programs in two skilled nursing facilities. The combination of using standardized guidelines, customizing others, and involving direct-care staff in facing challenges led to success. A research-practice partnership enabled a formal evaluation of the program. A pre- and posttest study design revealed significant reductions in physical restraints without increasing staff. This project demonstrates that frail, elderly people in nursing homes need not be physically restrained to receive effective care, but that alternatives can include more dignified options.

Accidental Falls↗
PubMed1994

DDI pacing: indications, expectations, and follow-up.

The DDI mode of pacing that permits noncompetitive atrioventricular sequential bradycardia support was chosen in 65 of 480 (14%) patients selected for dual chamber pacing between February 1985 and March 1990. All patients were implanted with Pacesetter 283 or 285 pulse generators and programmed to DDI. The indications for pacing were sick sinus syndrome (n = 52), combined sinus node dysfunction and AV block (n = 13). Forty-two of these patients had a history of paroxysmal atrial arrhythmias. All patients received passive fixation atrial and ventricular leads. Follow-up thereafter was performed predischarge, and at 6 weeks, 3 and 6 months after discharge. The duration of follow-up ranged from 1-61 months (mean 31 months). Fifty-four of 65 (83%) patients chosen for DDI remain programmed in the DDI mode. Three patients were reprogrammed to VVI and eight to DDD. During the course of follow-up, six patients presented with effective VVI pacing with consistent ventriculoatrial conduction that was appropriately sensed by the atrial circuit with atrial output inhibition. A further four patients presented with "functional undersensing" due to ventricular blanking period (VBP) characteristics in these pulse generators and in this mode. Functional undersensing was eliminated in all but one patient by reprogramming the VBP to 13 msec with no subsequent episodes of provoked crosstalk inhibition. Effective VVI pacing was observed in patients with AV block during times of sinus acceleration.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1994

Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.

The determination of hexosaminidases A and B in most programmes for Tay-Sachs disease carrier detection is based on their different heat sensitivity (hexosaminidase A is the heat labile isoenzyme). This routine cannot be employed for individuals who also possess a thermolabile hexosaminidase B. In Israel, 0.6% of the screened samples have a labile hexosaminidases B (about 110 each year) and the assessment of their hexosaminidase A activity has hitherto been based on isoenzyme separation by ion exchange chromatography. The latter requires relative large serum samples, and the individuals must usually be reappointed. In order to avoid the thermal treatment we have used the alternative technique, which employs two substrates with different specificities for the two isoenzymes: 1. The fluorogenic substance, 4-methylumbelliferyl-N-acetyl-glucopyranoside, which measures total hexosaminidase activity and 2. the derivative, 4-methylumbelliferyl-N-acetyl glucosamine-6-sulphate, which is considerably more specific toward hexosaminidase A. Hexosaminidase A activity was expressed as a ratio of total activities (the ratio of the assay with 4-methylumbelliferyl-N-acetyl glucosamine-6-sulphate to that with 4-methyllumbelliferyl-N-acetyl-glucopyranoside). Using the results from 65 obligate heterozygotes for Tay-Sachs disease, we established our reference ranges for assigning the genotypes with respect to the Tay-Sachs gene. Comparison of the results from 182 unrelated and randomly chosen sera screened by the ratio method and by heat inactivation, showed a very high correlation (r = 0.996). Sixty eight sera with thermolabile hexosaminidase B were tested by ion exchange chromatography and by the double substrate method, and they yielded identical diagnoses with regard to the Tay-Sachs locus.(ABSTRACT TRUNCATED AT 250 WORDS)

Acetylglucosamine↗
PubMed1994

Fluorescence polarization of serum lipids in pregnancies complicated by hypertensive disorder.

Hypertensive disorders in pregnancy are associated with an increase in serum lipid fractions. Fluorescence Polarization (FP) of lipids in the serum of 80 hypertensive pregnant patients at full term was compared to measurements in a control group of 71 healthy pregnant volunteers. In addition, the FP values were correlated with measurements of serum lipid fraction in 34 hypertensive and 17 control patients. Both chronic hypertension and pregnancy induced hypertensive (PIH) subjects had significantly reduced serum FP values compared to the control group. This difference was however present only in the severely hypertensive patients, independent of the etiology of this disorder. Highly significant correlations were present between the FP values and serum level of Triglycerides r = -0.85, Very Low Density Lipoprotein r = -0.76, and Low Density Lipoprotein r = 0.53. Serum FP values appear to reflect the change in the lipoprotein pattern present in pregnant patients with hypertensive disorders. This change appears to reflect the severity of the condition rather than the etiology of the hypertension.

Cholesterol↗
PubMed1994

Prenatal testing for Down syndrome in the Jewish and non-Jewish populations in Israel.

The present work evaluated the efficacy of a prenatal diagnosis program in which amniocentesis and chorionic villus sampling were offered free of charge to all pregnant women in Israel aged > or = 37 years. The number of Down syndrome (DS) live births that occurred during the period of the program (1978-92) was correlated to the prevalence of old maternal age (> 35 years) and the utilization of prenatal test in the Jewish and non-Jewish populations in 1990 and 1992. It was noted that in the Jewish population, there was a slight increase in the DS live birth rate, from 1.05 in 1978, to 1.37 DS cases/1,000 live births in 1987, which corresponded to an increase in the prevalence of older pregnant women, from 8.0% in 1978 to 14.8% in 1987. Thereafter, however, there was a continuous decline, to 0.71 DS cases/1,000 live births in 1992, as a result of increased acceptance of prenatal testing by women > or = 37 years (67%) and, recently, also by younger women (from 5.6% in 1990 to 14% in 1992). In the non-Jewish population, there has been a very low acceptance rate of prenatal testing (23.3-16.1% in women > or = 37 years and 0.36-0.63% in women < 37 years). As a result, a very low prenatal detection rate (8-16% of all DS cases) and a high prevalence of DS live births (1.4 cases/1,000 live births) were observed. We suggest that a unique genetic counseling approach is required in the non-Jewish population to improve prenatal DS prevention in Israel.

Adult↗
PubMed1993

Expanding multiple marker screening for Down's syndrome to include Edward's syndrome.

Information on maternal age and maternal serum alpha-fetoprotein, unconjugated oestriol (uE3), and human chorionic gonadotrophin (hCG) levels was used to investigate retrospectively the effect of estimating Edward's syndrome risk in women having multi-marker screening for Down's syndrome. The screened population comprised 15 pregnancies affected by Edward's syndrome, 15 with Down's syndrome and 5472 unaffected pregnancies. The use of all three markers to estimate Edward's syndrome risk would have led to the detection of 10-12 (67-80 per cent) cases with a false-positive rate of 0.3-0.6 per cent depending on the risk cut-off. A further case would have been detected as a result of screening for Down's syndrome alone. Similar results were obtained when the Edward's syndrome risk was based on uE3 and hCG only. These data suggest that extending Down's syndrome screening to include Edward's syndrome risk will yield a high detection rate with only a small increase in the false-positive rate.

Adult↗