Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings.

Placental Location in Maternal-Fetal Surgery for Myelomeningocele.

Introduction: Uterine incision based on the placental location in open maternal-fetal surgery (OMFS) has never been evaluated in regard to maternal or fetal outcomes.

Objective: The aim of this study was to investigate whether an anterior placenta was associated with increased rates of intraoperative, perioperative, antepartum, obstetric, or neonatal complications in mothers and babies who underwent OMFS for fetal myelomeningocele (fMMC) closure.

Methods: Data from the international multicenter prospective registry of patients who underwent OMFS for fMMC closure (fMMC Consortium Registry, December 15, 2010-June 31, 2019) was used to compare fetal and maternal outcomes between anterior and posterior placental locations.

Postoperative Ultrasound as a Predictor of Newborn Function and Ambulation after Open Fetal Myelomeningocele Repair.

Objective: Function of the lower extremities after prenatal myelomeningocele (MMC) repair is best assessed with ambulatory function at 30-36 months of age, but parents often ask about function before this milestone. Lower extremity movement can be assessed by ultrasound (US) and at the newborn exam (NE), but correlation between US, NE, and ambulation is not firmly established.

Methods: This was a retrospective correlation study of fetuses that underwent open prenatal MMC repair at SSM Cardinal Glennon Fetal Care Institute, St.

Subsequent pregnancy outcomes after open maternal-fetal surgery for myelomeningocele.

Background: Open maternal-fetal surgery for fetal myelomeningocele results in reduction in neonatal morbidity related to spina bifida but may be associated with fetal, neonatal, and maternal complications in subsequent pregnancies.

Objective: The objective of this study was to ascertain obstetric risk in subsequent pregnancies after open maternal-fetal surgery for fetal myelomeningocele closure.

Study Design: An international multicenter prospective observational registry created to track and report maternal, obstetric, fetal/neonatal, and subsequent pregnancy outcomes following open maternal-fetal surgery for fetal myelomeningocele was evaluated for subsequent pregnancy outcome variables.

Dextrose intravenous fluid therapy in labor reduces the length of the first stage of labor.

The aim of this systematic review with meta-analysis was to evaluate the effect on length of labor when patients receive IVF with or without dextrose. Searches were performed in electronic databases from inception of each database to May 2018. Trials comparing intrapartum IVF containing dextrose (i.

Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens.

Background: While microarray testing can identify chromosomal abnormalities missed by karyotyping, its prenatal use is often avoided in low-risk pregnancies due to the possible identification of variants of uncertain significance (VOUS).

Methods: We tested 2,970 prenatal samples of all referral indications using a rapid BACs-on-Beads-based assay with probes for sex chromosomes, common autosomal aneuploidies, and 20 microdeletion/microduplication syndromes, designed as an alternative to microarray in low-risk pregnancies and an alternative to rapid aneuploidy testing in pregnancies also undergoing microarray analysis.

Results: Interpretable results were obtained in 2,940 cases (99.

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Objective: To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience.

Methods: Prenatal samples received from 2004 to 2011 for a variety of indications (n = 5003) were tested using comparative genomic hybridization-based microarrays targeted to known chromosomal syndromes with later versions of the microarrays providing backbone coverage of the entire genome.

Results: The overall detection rate of clinically significant copy number alterations (CNAs) among unbiased, nondemise cases was 5.

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.

Objective: The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings.

Methods: We performed a retrospective analysis of 2858 pregnancies with abnormal ultrasounds and normal karyotypes (when performed) tested in our laboratory using CGH microarrays targeted to known chromosomal syndromes with later versions providing backbone coverage of the entire genome. Abnormalities were stratified according to organ system involvement.

American Podiatric Medical Association Best Walking City Competition, 2004.

In 2004, the American Podiatric Medical Association conducted its third annual "Best Walking City Competition." This study improved on the 2002 and 2003 studies by increasing the number of cities competing for the title of "Best Walking City" and by including a variety of new measures of walking activities to provide a more comprehensive and equitable basis for comparing cities. The top 20 best walking cities in 2004 were identified from among the 200 largest cities across the United States.

Prenatal diagnosis of 47,XXX.

We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

American Podiatric Medical Association Missing Time Survey, 2004.

A 2004 survey of US adults found that 19% had experienced foot problems at work at some time. As a result, 38% reported lost productivity and 28% missed time at work. Younger, less educated male workers were more likely to suffer from foot problems.

American Podiatric Medical Association Best Walking City Competition, 2003.

In 2003, the American Podiatric Medical Association conducted its second annual "Walking City Competition." The objective of the study was to update and expand on the results of a previous study conducted in 2002, taking into account a wider variety of measures of walking and walking conditions and identifying the best cities for walking in the United States on a regional basis.

Developing a metadata data model for the National Health and Nutrition Examination Survey (NHANES).

The National Health and Nutrition Examination Survey (NHANES), developed by the Centers for Disease Control and Prevention (CDC), is a large and comprehensive health survey utilizing leading edge technologies to produce national estimates of health measures and the nutritional status of the U.S. population.

American Podiatric Medical Association best walking city competition, 2002.

In 2002, the American Podiatric Medical Association initiated a "walking city competition." The objective of the study was to identify the best cities for walking in the United States.

Atrial fibrillation in pregnancy associated with oral terbutaline.

Background: Terbutaline has direct effects on the cardiac conduction system, but when used to treat preterm labor it is rarely associated with clinically significant cardiac arrhythmias. Commonly used drug references did not list atrial fibrillation as a complication of terbutaline, and our literature search found only one case of atrial fibrillation that occurred with parenteral administration.

Case: A 30-year-old gravida 1 carrying a twin gestation at 35 weeks was taking 2.

Ketamine attenuates neutrophil activation after cardiopulmonary bypass.

Unlabelled: Surgery is associated with activation of neutrophils and their influx into affected tissue. The pathogenic role of superoxide production generated by activated neutrophils has been documented repeatedly. Ketamine suppresses neutrophil oxygen radical production in vitro.

Effects of establishing cell cultures and cell culture conditions on the proliferative life span of human fibroblasts isolated from different tissues and donors of different ages.

It is well known that normal human cells placed in a culture environment exhibit a limited proliferative capacity. The extent to which the culture environment influences proliferative life span is not understood. This study evaluated the effects of the standard procedures used to establish and maintain cultures on the proliferative life spans of different types of human fibroblast cells established from fetal and adult skin and lung.