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S Elias

Publications and source records attributed to S Elias.

At least 163 records · Page 9Linked to original sources
PubMed1985

Adverse effects of human leukocyte antigen-DR sharing on fertility: a cohort study in a human isolate.

To elucidate further the reproductive effects of human leukocyte antigen (HLA) sharing among spouses, we have been investigating prospectively the relationship between HLA-A, -B, and -DR sharing and reproductive outcome in the Hutterites, a religious isolate that proscribes contraception. For the first time the reproductive effects of HLA-DR sharing in a fertile population is reported in this article. Median intervals from marriage to first through fifth births were longer among couples who shared more than one HLA-A, -B, or -DR antigen. Longer intervals were associated with increased spontaneous abortion rates among couples who shared HLA-DR antigens (27%), compared with couples who shared only HLA-A or -B antigens (9%) and couples who shared no antigens (12%). Median completed family sizes were 5.0, 8.5, and 8.0 among the groups, respectively. However, some couples who shared HLA-DR antigens experienced no spontaneous abortions, despite ten or more pregnancies. Therefore, although HLA-DR compatibility, per se, is not deleterious, our data suggest a potentially important role for undefined HLA-linked genes in normal pregnancy.

Abortion, Spontaneous↗
PubMed1984

HLA associations in endometriosis.

A study of 53 individuals failed to reveal an association between any HLA antigen and endometriosis. Division of the sample into those having a relative affected with endometriosis (N = 11) and those not having such a relative (N = 42) similarly failed to reveal significant associations.

Endometriosis↗
PubMed1984

Muscle changes in venous insufficiency.

The diagnosis of venous insufficiency and hypertension was established in 53 patients using standard diagnostic methods including ascending and descending venography, venous pressure measurements, and photoplethysmography. Autogenous vein valve transplant, which is gaining acceptance as a treatment for this condition, was employed in this group of patients to relieve venous valvular insufficiency. Biopsy specimens of the gastrocnemius muscle were obtained before surgery in all 53 patients and studied pathologically. Three types of morphologic injury were encountered, suggesting that disuse, denervation, and ischemia may each be partially responsible for damage in skeletal muscle subjected to venous insufficiency and hypertension. Skeletal muscle injury probably explains the preoperative elevations of serum creatine kinase levels in many of our patients and may account for the failure of venous pressures to return to normal levels following surgery.

Biopsy↗
PubMed1984

Deep posterior compartment pressure in the evaluation of venous insufficiency of the lower extremity--a preliminary report.

A new method of assessing the extent of venous insufficiency in the lower extremity at the tissue level was tested on thirteen limbs with various degrees of venous insufficiency as evidenced by clinical signs and descending venography. Deep posterior compartment pressures in standing patients correlated well with standing venous pressures in these same limbs. Eighty-three percent of those limbs with deep posterior compartment pressures above 30 mmHg had objective clinical signs of venous insufficiency, namely edema, stasis dermatitis and/or stasis ulcer. Descending venography results were compared in six of these limbs, however, no correlation with compartment pressures could be found from this small sample. With further study, deep posterior compartment pressures using the slit catheter technique may prove to be a valuable aid in the diagnosis of venous insufficiency.

Adult↗
PubMed1984

Genetics studies in incomplete müllerian fusion.

No formal genetic studies of incomplete müllerian fusion anomalies have been conducted previously, despite several reports of familial aggregates. Accordingly, the authors sought to determine the frequency with which symptomatic müllerian fusion anomalies occurred in relatives of a small but genetically unbiased sample of 24 probands. Only one of 37 (2.7%) female sibs over age 16 appeared to have a symptomatic uterine anomaly; none of 24 mothers, none of 45 maternal aunts, and none of 50 paternal aunts appeared affected. Such a low frequency of affected relatives is more consistent with polygenic/multifactorial etiology than with other genetic etiologies.

Female↗
PubMed1983

Components of ubiquitin-protein ligase system. Resolution, affinity purification, and role in protein breakdown.

By affinity chromatography of a crude reticulocyte extract on ubiquitin-Sepharose, three enzymes required for the conjugation of ubiquitin with proteins have been isolated. One is the ubiquitin-activating enzyme (E1), which is covalently linked to the affinity column in the presence of ATP and can be specifically eluted with AMP and pyrophosphate (Ciechanover, A., Elias, S., Heller, H., and Hershko, A. (1982) J. Biol. Chem. 257, 2537-2542). A second enzyme, designated E2, is bound to the ubiquitin column when E1 and ATP are present, and is eluted with a thiol compound at high concentration. The third enzyme, designated E3, is adsorbed to the affinity column by noncovalent interactions and can be eluted with high salt or increased pH. The presence of all three enzymes is absolutely required for the conjugation of 125I-ubiquitin with proteins. All three affinity-purified enzymes are also required for the breakdown of 125I-albumin to acid-soluble material in the presence of ubiquitin, ATP, and the unadsorbed fraction of the affinity column. The following observations indicate that the function of E2 is the transfer of activated ubiquitin to the site of conjugation in the form of an E2-ubiquitin thiol ester intermediate. (a) E2 is rapidly inactivated by iodoacetamide, but can be protected against inactivation by a prior incubation with E1, ATP, and ubiquitin. This suggests an E1-mediated transfer of activated ubiquitin to an iodoacetamide-sensitive thiol site of E2. (b) The requirements for the binding of E2 to the ubiquitin column and the mode of its elution, cited above, are consistent with the notion that a covalent linkage is formed between E2 and Sepharose-bound ubiquitin. (c) Upon the incubation of 125I-ubiquitin with E1 and ATP, followed by the addition of purified E2, activated ubiquitin is transferred from E1 to several low molecular weight forms of E2, as analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. The linkage of ubiquitin to all these forms has the characteristics of a thiol ester bond. In a further incubation with E3 and a protein substrate for conjugation, activated ubiquitin was transferred from the different forms of E2-ubiquitin to stable ubiquitin-protein conjugates. Thus, E3 is involved in the last step of the ligase system.

Adenosine Triphosphate↗
PubMed1983

Diabetes in pregnancy, Northwestern University series (1977-1981). I. Prospective study of anomalies in offspring of mothers with diabetes mellitus.

Offspring of mothers with diabetes mellitus were examined prospectively with the use of a detailed checklist. Diabetic women were usually identified in the late first or early second trimester and thereafter rigorously managed in hopes of achieving euglycemia. The frequency of infants with major anomalies was higher (9/106, 8.5%) in White Classes B to F than in either the general population or in a small group of concurrently gathered control subjects (1/41, 2.4%). The frequency of anomalies in Class A diabetes was 3/76 (3.9%), a rate that may or may not be increased. Of the 12 major anomalies observed in diabetic offspring, six involved the heart and three involved the skeletal system. No pattern of minor anomalies appeared to exist. Limited data failed to reveal a specific HLA type that conferred increased risk for anomalies, and chromosomal abnormalities were not increased in frequency. If hyperglycemia is indeed the mechanism responsible for anomalies in offspring of mothers with diabetes mellitus, our observations suggest that rates will be reduced only by achieving optimal control in the first trimester.

Congenital Abnormalities↗
PubMed1983

Enhancement of a fra(16)(q22) with distamycin A: a family ascertained through an abnormal proposita.

A family in which a fragile site at 16q22 was segregating was ascertained through a newborn infant with multiple anomalies. The same fragile site was present in the phenotypically normal father and in a brother with cleft palate. The fra(16)(q22) was similar in appearance, and in response to culture conditions, to that reported by other investigators, including increased breakage in media supplemented with distamycin A. Sampling variation in the frequency of breakage over time may be considerable in some individuals. No pattern of anomalies was found to be associated with the fragile site. However, the reproductive history of the family we report (two livebirths with major congenital anomalies and one stillbirth) suggests caution in concluding fra(16)(q22) is not deleterious.

Abnormalities, Multiple↗
PubMed1983

Heritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies.

Familial aggregates of incomplete Müllerian fusion have been reported, but the role of genetic factors has not been elucidated. In the last several years, we have fortuitously encountered three families in which several members were affected with Müllerian fusion anomalies. In two families, several members had incomplete Müllerian fusion as traditionally described. In the third family, several members had the hand-foot-genital syndrome, a rare autosomal dominant disorder characterized not only by Müllerian fusion defects but also by skeletal (hand and foot) malformations. The etiologic heterogeneity of Müllerian fusion defects is considered.

Abnormalities, Multiple↗
PubMed1983

Antenatal diagnosis of genodermatoses.

The technics of fetoscopy and fetal skin biopsy have expanded our capabilities for antenatal diagnosis of certain hereditary skin disorders (genodermatoses). The fetus and placenta can be visualized directly and skin biopsy specimens can be obtained for light and electron microscopic studies, tissue culture, and biochemical analysis. These technics have been utilized successfully in the prenatal diagnosis or exclusion of epidermolysis bullosa, epidermolytic hyperkeratosis, and harlequin ichthyosis in fetuses known to be at risk for these disorders, and they offer tremendous potential for prenatal diagnosis in a variety of other genodermatoses. Studies of tissue obtained by this procedure will undoubtedly expand our knowledge of the morphogenesis and biochemistry of fetal skin and will provide needed baseline data for the further development of these technics.

Biopsy, Needle↗
PubMed1983

Clinical implications of chromosomal inversions. A pericentric inversion in No. 18 segregating in a family ascertained through an abnormal proband.

Chromosomal inversions are being detected in humans with increasing frequency due to the application of chromosomal banding techniques. Inversions have occurred in all chromosomal groups. These structural aberrations may lead to infertility, reproductive loss, or abnormal offspring. To illustrate their clinical significance, we report a family in which an inversion in chromosome No. 18 is segregating. This family was ascertained through a proband whose anomalies were consistent with the deletion 18q syndrome. The chromosomal imbalance originated by recombination within the parental inversion during meiosis. Consideration of this family and 6 others with similar breakpoints (18p11 and 18q12 or q21) suggests that the risk of unbalanced (recombinant) livebirths may be higher for female inv(18) heterozygotes than for males. The paucity of male carriers detected could be due to prenatal selection or chance. Overall, there may be preferential segregation for the aberrant chromosomes (inversions plus recombinants). Amniocentesis and cytogenetic analysis of pregnancy losses is recommended for families in which inversions are detected.

Abnormalities, Multiple↗
PubMed1983

Descending venography.

Patients with chronic venous insufficiency may have a combination of problems. The veins in the lower extremity can be affected by post phlebitic changes, obstruction, venous valvular incompetence or any mixture of these. Correct medical and/or surgical treatment hinges on the accurate assessment of the venous system. Complete studies of the lower extremity should incorporate ascending and descending venography as well as the clinical presentation. The methods described above easily enable one to achieve this accuracy with a minimal of time and discomfort to the patient. The incidence of primary venous valvular incompetence, may be higher than first anticipated and only by performing descending venography will this cause chronic, venous insufficiency to be unmasked. When employed in the appropriate patient, descending venography is an invaluable asset to diagnosis and ultimate treatment.

Adult↗
PubMed1983

Prenatal diagnosis of genetic disorders.

One of the most significant advances in medicine is the development of prenatal diagnosis. In many circumstances it is now possible for the physician to learn definitively whether or not a fetus has a given genetic disorder. If the fetus is found to be affected, the couple may elect termination of the pregnancy. The most widely used technique for prenatal diagnosis is midtrimester amniocentesis, which permits chromosomal or enzymatic studies of amniotic liquor and cultured amniotic fluid cells. Recent advances in DNA analysis of amniotic fluid cells have opened new vistas for the antenatal detection of hemoglobinopathies, and potentially, for other genetic disorders. Advances in ultrasonography have not only made amniocentesis safe and more reliable, but have also offered new opportunities for the detection of certain defects. Finally, in addition to allowing direct fetal visualization, fetoscopy has permitted access to fetal tissues (e.g., blood, skin), thereby making feasible the diagnosis of disorders not otherwise detectable.

Abortion, Habitual↗
PubMed1983

Heritable aspects of uterine anomalies. II. Genetic analysis of Müllerian aplasia.

The genetics of Müllerian aplasia (absent fallopian tubes, absent or rudimentary uterine corpus and cervix, absent upper vagina) has never been investigated systematically. Some investigators believe the disorder is inherited in female-limited autosomal dominant fashion, males transmitting the mutant gene but, of course, not manifesting the trait. To investigate this possibility, we obtained pedigrees in 23 probands with Müllerian aplasia. None had an affected relative. The absence of affected individuals among 30 postpubertal sisters, 31 paternal aunts, and 40 maternal aunts makes it unlikely that a sex-limited autosomal dominant gene is a common cause of Müllerian aplasia in our population. Dominant genes might exist in other populations, and fresh dominant mutations cannot be excluded. However, polygenic/multifactorial inheritance is perhaps more plausible.

Cervix Uteri↗