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Biomedical subjects

S Elias

Publications and source records attributed to S Elias.

At least 73 records · Page 4Linked to original sources
PubMed1994

Lack of heritability in ovarian germ cell malignancies.

OBJECTIVE: Our purpose was to determine whether relatives of patients with ovarian germ cell malignancies not associated with sex chromosome abnormalities are at increased risk for similar tumors. STUDY DESIGN: We reviewed pedigrees of 78 presumptive 46,XX patients (ages ranging from newborn to 20 years) with malignant ovarian germ cell tumors, excluding cases of dysgerminoma and gonadoblastoma. A three-generation family history of each proband was reviewed specifically to identify cancer in any family member. RESULTS: Seventy-eight mothers, 87 sisters, 135 aunts, and 156 grandmothers were surveyed. None had a malignant ovarian germ cell neoplasm or other malignant ovarian neoplasm. CONCLUSION: First- and second-degree relatives of probands with ovarian germ cell malignancies do not have an increased risk for similar tumors. These findings were not predicted because of the well-recognized association of hereditary tumors and early age of onset.

Adolescent↗
PubMed1994

Amniocentesis performed at 14 weeks' gestation or earlier: comparison with first-trimester transabdominal chorionic villus sampling.

OBJECTIVE: To compare our initial experiences with early amniocentesis and transabdominal chorionic villus sampling (CVS). METHODS: We compared the diagnostic and pregnancy outcomes of our initial 250 patients undergoing early amniocentesis (at or before the 14th completed week of gestation) or transabdominal CVS (performed between 9.5-12.9 weeks' gestation). In both groups, the indication for prenatal diagnosis was advanced maternal age (35 years or older at estimated date of delivery). RESULTS: No diagnostic errors were made using either technique, and the culture failure rate for both methods was 0.8% (two of 250). Seven cytogenetic abnormalities in the early amniocentesis group and seven in the transabdominal CVS group were detected. Nine of the 250 women undergoing early amniocentesis reported spontaneous miscarriages following the procedure, compared to five in the transabdominal CVS group. The loss rates were 3.8% in the early amniocentesis group and 2.1% in the transabdominal CVS group among continuing pregnancies. Frequencies of premature delivery, small for gestational age infants, and associated structural defects in both groups were comparable. CONCLUSIONS: At this time, early amniocentesis cannot be assumed to be equal to conventional transabdominal CVS or amniocentesis with regard to safety or accuracy; only a large cohort randomized study will adequately determine the safety and efficacy of early amniocentesis.

Abdomen↗
PubMed1994

Ultrasound-guided fetal skin sampling for prenatal diagnosis of genodermatoses.

OBJECTIVE: To evaluate the safety and diagnostic efficacy of ultrasound-guided fetal skin sampling for the prenatal diagnosis of genodermatoses. METHODS: Seventeen pregnancies seen over 6.5 years were analyzed retrospectively. Fifteen were at risk for junctional epidermolysis bullosa and two for recessive dystrophic epidermolysis bullosa. Under ultrasound guidance, a biopsy forceps was inserted through a 14-gauge catheter and directed toward the fetus (thorax, back, or buttocks) to obtain skin samples. The procedures were performed at a mean of 18.3 weeks' gestation (range 16.5-19.5). RESULTS: Fetal skin sampling was successful in all cases; the mean number of biopsies taken was 3.6 (range two to five). Five of the 17 fetuses were determined to be affected, each with junctional epidermolysis bullosa; these pregnancies were terminated electively and the prenatal diagnoses confirmed. The remaining 12 pregnancies resulted in the delivery of healthy infants at or after 37 weeks' gestation. There were no pregnancy-related complications, specifically preterm rupture of the membranes or preterm labor. Three of the 12 infants had minor skin blemishes believed to be due to the skin sampling. CONCLUSION: Ultrasound-guided fetal skin sampling is the procedure of choice when fetal skin is required for prenatal diagnosis of genodermatoses.

Biopsy↗
PubMed1993

Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology.

OBJECTIVES: To review the rationale for and progress toward the goal of isolating and analyzing fetal cells circulating in maternal blood, and to explore the feasibility of this method in providing noninvasive prenatal cytogenetic diagnosis. DATA SOURCES: Critical review of data published since the first report (1969) of fetal metaphases in maternal blood. Emphasis is placed on data since the demonstration by polymerase chain reaction (PCR) in 1989 and 1990 that fetal cells indeed exist in maternal blood. DATA SYNTHESIS: Clinical evaluations have not yet been conducted, but it is already clear that molecular technologies have allowed the unequivocal demonstration of fetal cells in maternal blood. Using PCR, our own group and others have demonstrated Y sequences and single gene sequences (eg, hemoglobin LeporeBoston) in maternal blood. Thus, fetal DNA sequences indeed exist in maternal blood. Among the various candidate cells, the most promising appear to be fetal nucleated red blood cells. We isolated nucleated red blood cells on the basis of flow-sorting for the transferrin receptor and glycophorin-A. Enriched samples were then subjected to fluorescence in situ hybridization with chromosome-specific probes. This approach allowed us to detect trisomy 21 and trisomy 18, work later confirmed by others. CONCLUSIONS: Isolating and analyzing fetal cells from maternal blood is clearly possible. Several key biologic questions remain--the optimal cells for isolation, frequency of cells in maternal blood, timing during gestation for maternal blood sampling, and the likelihood of persistence of fetal cells after delivery. Clinical evaluations planned by the National Institute of Child Health and Human Development will determine the sensitivity and specificity of this method and its precise role in prenatal cytogenetic diagnosis.

Aneuploidy↗
PubMed1993

Prenatal diagnosis of isolated bilateral microphthalmia with confirmation by evaluation of products of conception obtained by dilation and evacuation.

We describe the prenatal diagnosis of isolated bilateral fetal microphthalmia in a woman at increased risk of having a fetus with microphthalmia. Ultrasound examinations at 16.1 and 19.5 weeks' gestation demonstrated bilateral fetal microphthalmia with no other associated structural defects. The patient elected to terminate her pregnancy at 19.5 weeks. Pathological evaluation of the products of conception obtained by dilation and evacuation confirmed the prenatal diagnosis of isolated bilateral fetal microphthalmia.

Abortion, Therapeutic↗
PubMed1993

Autoantibodies and pregnancy history in a healthy population.

OBJECTIVE: Our purpose was to determine whether the presence of autoantibodies is associated with pregnancy history in healthy adults. STUDY DESIGN: Antibodies against phospholipid, histone, and nucleotide antigens were determined in 102 male and 99 female subjects. The effects of age, sex, marital status, and pregnancy history on antibody positivity were assessed. RESULTS: Women showed higher levels of autoantibodies, but differences were not statistically significant in this sample. Age was not associated with antibody positivity in men. In women age was associated with positivity for (1) immunoglobulin G antibodies (p = 0.009), (2) antihistone antibodies (p = 0.024), and (3) more than one antibody (p = 0.020). Immunoglobulin M antibodies were more common in unmarried than married females (p = 0.020). In contrast, the prevalence of immunoglobulin G antibodies was increased in married women, although differences did not reach statistical significance (p = 0.167). Gravidity and history of fetal loss were not associated with increased antibody positivity. In subjects in whom follow-up data were available, positive antibody titers were not associated with subsequent adverse pregnancy outcome. CONCLUSIONS: In this population autoantibodies are not associated with adverse pregnancy outcome. However, an increased prevalence of immunoglobulin M in unmarried women and immunoglobulin G in married women suggests that a switch from immunoglobulin M to immunoglobulin G autoantibodies is associated with marriage, as a result of either exposure to semen or trophoblast antigens.

Adult↗
PubMed1993

Cystic fibrosis mutations in white and black Americans: an approach to identification of unknown mutations with implications for cystic fibrosis screening.

OBJECTIVE: We sought to define the frequency of common cystic fibrosis mutations in white and black American probands from our geographic region. STUDY DESIGN: Mutation analysis was performed for delta F508, G551D, G542X, R553X, S549N, an d N1303K. For probands with undetermined mutations single-stranded conformational polymorphism analysis was performed. RESULTS: Among 40 white subjects with cystic fibrosis 26 (65%) were homozygous for delta F508, 10 (25%) were heterozygous for delta F508 and another unknown mutation, and two were homozygous for unknown mutations. Among 10 black probands one was homozygous for delta F508, seven (70%) were heterozygous for delta F508 and another unknown mutation, and one was homozygous for unknown mutations. Single-stranded conformational polymorphism analysis for selected exons was performed for 11 probands with unknown mutations. One mutation was detected in a white proband. Sequencing of this exon showed the mutation to be Q493X. CONCLUSIONS: Thirty percent of white subjects and 80% of black subjects carried unknown mutations. In one family single-stranded conformational polymorphism was informative in identifying an undetermined cystic fibrosis mutation.

Black People↗
PubMed1993

Deficit of HLA homozygotes in a Caucasian isolate.

Deficits of HLA-A, -B homozygotes observed many years ago in two inbred populations suggested negative selection against HLA homozygotes. To determine whether a similar deficiency would be observed in the S-leut Hutterites, a well-characterized Caucasian isolate of European ancestry, and to determine whether selection operated at the allele, locus, or haplotype level, observed and expected numbers of homozygotes were compared in 852 adult Hutterites. Deficits ranging from 11% to 24% were observed for all five loci examined (HLA-A, -B, -C, -DR, and -DQ). However, these deficits were secondary to, and almost completely accounted for by, a 64% loss of individuals homozygous for the haplotype. There was no evidence of deficits affecting only a single allele or locus. The data indicate strong negative selection against HLA homozygotes. This could be due, at least in part, to decreased fecundability among couples sharing HLA-DR. However, these data suggest that additional selective factors acting at the level of the haplotype also operate in this population.

Adult↗
PubMed1993

The Patient Profile System: Group Health's first iteration of the automated medical record.

In 1988, Group Health, Inc., a large staff model HMO in the Twin Cities of Minneapolis and St Paul, MN, began upgrading its computer systems. This provided an opportunity for the organization to begin the development of its first automated medical record, called the Patient Profile System (PPS). This paper describes that effort. Discussed are the design, development, implementation, features and uses of the system. The reader considering a similar endeavor should have an idea of what this development process might entail within the framework of a large HMO. Although not embodying all the features that would be necessary for the fully computerized medical record, the PPS has proved to be a useful clinical tool. Lessons learned from the development and implementation of the PPS will help us reach the goal of fully automating the medical record.

Ambulatory Care Information Systems↗
PubMed1993

Amniocentesis and chorionic villus sampling.

Amniocentesis and chorionic villus sampling have been shown through prospective, multicenter trials to be safe and effective methods of prenatal diagnosis; accordingly, a knowledge of these tests is important for those physicians who care for women during their childbearing years. We review the indications, techniques, safety, accuracy, and efficacy of amniocentesis and chorionic villus sampling and compare the advantages and disadvantages of each diagnostic test. This review should enable physicians to provide appropriate counseling and information to women at increased risk for fetal abnormalities detectable by either of these procedures.

Adult↗
PubMed1993

Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples.

BACKGROUND: Understanding normal skin development and identifying markers of genetic skin disease expressed in postnatal skin have permitted the prenatal diagnosis of many severe genodermatoses: bullous diseases, keratinization diseases, pigment cell disorders, and disorders of the epidermal appendages (ectodermal dysplasias). Samples of 16 to 22 weeks' gestation fetal skin obtained by ultrasound-guided biopsy are evaluated using morphologic, immunohistochemical, and biochemical methods. OBSERVATIONS: The 12-year experience in evaluating samples from fetuses at risk of these disorders has allowed us to establish conditions that must be met before the samples are taken and the criteria for recognizing the disorder, to recommend the site(s) for sampling, and to be mindful of pitfalls that may be encountered in interpreting the tissue structure. CONCLUSIONS: Fetal skin biopsy is an important diagnostic tool that has permitted families in which members carry the abnormal gene for one of these severe skin diseases to undertake a pregnancy knowing that the condition of the fetus can be determined. Nonetheless, the ultimate goal is phase out this procedure when linkage of more of these disorders to specific genes is understood, specific mutations are characterized, and probes are available for molecular diagnoses using tissue obtained at earlier fetal ages. Until this is possible, fetal skin biopsy remains an important tool that can be used with reasonably high levels of safety and confidence.

Amniotic Fluid↗
PubMed1993

Piriformis abscess mimicking a hip pyarthrosis.

Joint sepsis and osteomyelitis often give a confusing clinical picture in children because of the prevalent use of oral antibiotics for otolaryngeal disease, resulting in partially treated musculoskeletal infections. Unusual sites of infection must be considered when the patient does not respond to standard treatment. Recent scanning techniques can be useful in resolving this dilemma.

Abscess↗
PubMed1992

Transvaginal chorionic villus sampling using transabdominal ultrasound guidance.

Transvaginal chorionic villus sampling (CVS) using concurrent transabdominal ultrasound guidance was performed in six women who desired CVS but could not be offered transcervical or transabdominal approaches because of uterine position and placental location. Satisfactory amounts of chorionic villi were obtained in all six cases with no maternal discomfort, an occurrence that contrasts with our experience in transvaginal CVS using endovaginal ultrasound guidance. We believe that transvaginal CVS using concurrent transabdominal ultrasound guidance warrants consideration as an alternative technique for first-trimester CVS in selected patients.

Adult↗