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Biomedical subjects

S Rotmensch

Publications and source records attributed to S Rotmensch.

At least 19 recordsLinked to original sources
PubMed1992

Atelosteogenesis type II: sonographic and radiological correlation.

Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes. We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post-mortem radiological findings were correlated. The patient had a recurrence of this disorder in a subsequent pregnancy which was terminated at 15 weeks, supporting previous reports of an autosomal recessive inheritance pattern. The feasibility of diagnosing the following morphological features by prenatal ultrasonography is demonstrated: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centres in the pelvis, and preaxial deviation of the thumbs and toes. The differential diagnosis of this disorder from other skeletal dysplasias with similar features is discussed.

Abnormalities, Multiple↗
PubMed1992

Embryoscopy: a closer look at first-trimester diagnosis and treatment.

Advancing technology has made the fetus and its environment even more accessible to prenatal diagnosis and treatment. The current approach to prenatal diagnosis relies mainly on the use of high-resolution ultrasonography. However, as attempts are made to conduct antenatal diagnoses earlier in gestation, the limits of ultrasonography are approached. Embryoscopy allows for direct visualization of the first-trimester fetus with a fiberoptic endoscope. A customized side channel enables the operator to pass a variety of diagnostic tools and gain access into the fetal circulation. The further development and refinement of this technology are expected to change early prenatal diagnosis and treatment considerably. The potential contribution of this technique to perinatal medicine is readily apparent when it is placed in historic context. Undoubtedly, many ethical, legal, and regulatory questions will have to be addressed before the full potential of embryoscopy is realized. The responsibility for the judicious use of this powerful technology for prenatal intervention will have to be shared by the scientific community and a well-informed public.

Endoscopes↗
PubMed1992

Fetal humeral length to detect Down syndrome.

OBJECTIVE: Our aim was to evaluate the utility of ultrasonographic humeral length measurements for detection of fetuses with Down syndrome in the midtrimester of gestation. STUDY DESIGN: Ultrasonographic biometry data obtained before genetic amniocenteses on 43 fetuses with Down syndrome and 204 randomly chosen normal fetuses were analyzed. Regression equations relating biparietal diameter to humeral length and femoral length were used to calculate ratios of observed-to-expected length and sensitivity and specificity at various cutoff points. RESULTS: Humeral length in Down syndrome fetuses was significantly shorter than in normal controls (p less than 0.001). A ratio of 0.90 for observed/expected humeral length yielded a sensitivity of 28%, a specificity of 91%, and positive predictive values of 1.23% and 0.41% in populations at risk for Down syndrome of 1 in 250 and 1 in 750, respectively. The equivalent ratio for femoral length yielded a sensitivity of 19%, a specificity of 91%, and positive predictive values of 0.87% and 0.28% for baseline risks of 1 in 250 and 1 in 750, respectively. CONCLUSIONS: The sensitivity of fetal humeral length measurements for Down syndrome detection in our hands was remarkably lower than previously reported. Independence of this parameter from currently used serum screening markers has not been established; therefore implementation in screening programs is not advisable at this point.

Down Syndrome↗
PubMed1992

Bilateral choroid plexus cysts in trisomy 21.

Whether karyotyping is indicated in a fetus with choroid plexus cysts who is otherwise structurally normal is still controversial. Many authors have suggested basing the decision on cyst size, bilaterality, persistence with advancing gestational age, and association with other anomalies. We report a case of large bilateral choroid plexus cysts in a fetus with trisomy 21 who had no evidence of congenital anomalies or ultrasonographic signs of Down syndrome. Cyst sizes diminished by half over a 3-week period of follow-up. It appears that diminishing size alone should not be considered sufficient reassurance about the normality of the fetal karyotype. A similar case has been previously reported, and it is conceivable that choroid plexus cysts are associated not only with trisomy 18 but also with trisomy 21.

Adult↗
PubMed1992

Monitoring of intravascular fetal transfusions with Doppler velocimetry.

Intravascular fetal transfusions are occasionally complicated by extravascular deposition of transfused blood or by fetal bradycardia on penetration of the needle into the umbilical cord. It is desirable therefore to continuously monitor the intravascular location of the needle and the fetal heart rate. This can be achieved by Doppler velocimetry of the umbilical vein and artery during the procedure. The technique is easily performed, does not require moving of the ultrasonography transducer, and appears to be time efficient.

Blood Transfusion, Intrauterine↗
PubMed1991

The role of von Willebrand factor in pre-eclampsia.

The von Willebrand factor (vWF) has gained considerable interest in recent years as a marker of endothelial cell activation or insult and by virtue of its interactions with platelets and vessel walls. Altered patterns of vWF multimers were found to occur frequently in patients with thrombotic thrombocytopenic purpura in the acute and chronic stages. This disorder shares some clinical and laboratory findings with pre-eclampsia, including thrombocytopenia. Recent studies have also suggested that abnormalities of endothelial cell metabolism play a central role in the pathophysiology of pre-eclampsia. In order to determine if vWF could be instrumental in the disease process and the thrombocytopenia of pre-eclampsia we analyzed the ante- and postpartum structural and functional distribution of vWF. This data was correlated with hematological parameters such as platelet counts and the clinical severity of the disease. We found no consistent changes of vWF in association with thrombocytopenia or clinical severity. However, functional vWF was lower in postpartum samples of severely affected pre-eclamptics as compared to normal controls. This finding may reflect endothelial cell exhaustion after stimulation or cellular injury. Elevated titers of fibrin split products and thrombocytopenia were evident in severe pre-eclampsia, as seen in DIC, despite factor VIII coagulant levels within the normal range. Our data is consistent with the hypothesis of endothelial cell dysfunction in pre-eclampsia. However, the mechanism of thrombocytopenia in this disorder does not appear to be related to alterations in the structure or biological function of vWF.

Adult↗
PubMed1991

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.

Abnormalities, Multiple↗
PubMed1991

Introduction to Doppler velocimetry in obstetrics.

Doppler velocimetry of the fetal and maternal circulation can provide important diagnostic and prognostic information. However, the precise role of this technology in screening, diagnosis, and management of perinatal complications is still evolving. This article discusses some principles of physics, techniques, clinical applications, and limitations of Doppler velocimetry in obstetrics.

Female↗
PubMed1989

The impact of the acquired immunodeficiency syndrome epidemic on the philosophy of childbirth.

Few other specialists in medicine are as exposed to body fluids as obstetricians. Anxiety among these health care providers is therefore considerable. Guidelines for universal infection precautions are aimed at minimizing the risk of human immunodeficiency virus transmission by the creation of adequate physical barriers between the patient and the health care provider. Some of these guidelines are mutually exclusive to currently popular childbirth techniques in the very practical sense. However, the more important impact of universal infection precautions is likely to be psychological. Anxiety and the necessity for physical isolation are probably the worst basis for an empathic human relationship with the patient. It is the current challenge of obstetrics to maintain a sensitive and client-centered approach while judiciously dealing with the acquired immunodeficiency syndrome epidemic.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Coordinated regulation of morphological and biochemical differentiation in a steroidogenic cell: the granulosa cell model.

Studies on the dynamic biochemical and morphological events occurring during steroidogenesis in granulosa cells suggest that the organization and expression of the actin-cytoskeleton may play a major role in the transduction of endocrine and paracrine steroidogenic signals, and in the coordination between the organelles involved in this process. Since steroid hormones are not stored intracellularly, regulation of their production is dependent mainly on the expression of genes coding for membrane-bound steroidogenic enzymes. Recently, the expression of oncogenes of the ras family was also implicated in the regulation of steroidogenesis.

Cell Differentiation↗
PubMed1989

Synergistic effect of human chorionic gonadotropin and extracellular matrix on in vitro differentiation of human granulosa cells: progesterone production and gap junction formation.

The effects of extracellular matrix (ECM) in the form of a native basement membrane and of hCG on progesterone production, cellular morphology, and gap junction formation in cultured human granulosa cells (GCs) were examined. GCs were harvested from human preovulatory follicles in the course of oocyte retrieval for in vitro fertilization. Cells grown on ECM secreted by bovine corneal endothelial cells (BCE) produced significantly higher amounts of progesterone (up to 3-fold) than cells on uncoated dishes. Culturing of cells on BCE-ECM in the presence of hCG resulted in a further increase in progesterone production; in the first 2 days an additive effect was noted, and on days 3, 4, and 5 a synergistic effect became evident (1.2- to 1.8-fold above the sum of the individual treatments). LH/hCG receptor content on day 3 of culture was 4-fold higher in GCs grown on BCE-ECM compared to that in uncoated dishes. A similar elevation was found when cells were grown on ECM secreted by PFHR-9 mouse endodermal cells. Cells grown on both types of ECM maintained their epithelioid shape but, in addition, formed cytoplasmic processes interconnected with neighboring cells by gap junctions. Morphometric analysis revealed that the area of cell membrane occupied by gap junctions increased by 3- to 4-fold on ECM compared to that in cells grown on plastic. Enlargement of endoplasmic reticulum was evident on ECM along with clustering of numerous mitochondria, lipid droplets, and lysosomes characteristic of highly luteinized cells. Cells grown in the presence of hCG on ECM showed morphological modulation similar to that of cells cultured on ECM alone. These observations suggest that growing of human GCs on a ECM similar to a naturally produced basement membrane enhances morphological and biochemical differentiation, and that ECM and gonadotropin affect synergistically the extent of luteinization in these cells.

Cell Differentiation↗
PubMed1988

Term interstitial pregnancy resulting in a live infant.

Interstitial pregnancy is an uncommon variety of ectopic gestation. Rupture tends to occur later than with tubal gestations, and is often associated with catastrophic hemorrhage. Few case reports of term interstitial pregnancies have been reported, and none have been associated with fetal survival. This is the first reported case of a term interstitial pregnancy resulting in a live infant.

Adult↗