Development of a Standard Push-up Scale for College-Aged Females.

The ACSM/CESP push-up test exemplifies the limiting nature of the gender binary in fitness. Males perform the standard push-up (from toes) while females perform the modified push-up (from knees), even if capable of multiple standard push-ups. Differences in upper body strength are used to justify the test protocol.

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions.

Background: There are four known pericentromeric euchromatic variants of chromosome 9 in the literature that are increasingly being observed in diagnostic cytogenetic laboratories. These variants pose diagnostic and counselling dilemmas, especially in prenatal settings, as distinction of a pathogenic alteration from a euchromatic variant is difficult. The molecular characterisation of three of these four variants has been reported.

Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies.

Purpose: To prospectively validate a quantitative fluorescent polymerase chain reaction (PCR) assay as a method of rapid prenatal aneuploidy detection for chromosomes 13, 18, 21, X, and Y.

Methods: A commercial quantitative fluorescent PCR kit was validated on 200 known, blinded, prenatal DNA specimens. The kit was then validated prospectively on 1069 amniotic fluid specimens, and the results were compared with the karyotype results and the results of interphase fluorescence in situ hybridization testing, when performed in the course of standard care.

The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis.

Objective: The objective was to determine the risk of sampling error in amniocentesis and chorionic villus sampling (CVS) in singleton and multiple pregnancies. Data from this and other published studies were used to discuss current practice guidelines for molecular identity testing.

Method: Clinical and laboratory records of all patients undergoing molecular-based identity testing in our clinical laboratory from July 2002 until March 2008 were reviewed.

Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses.

Objectives: The clinical outcome of prenatally diagnosed congenital heart defects (CHD) continues to be affected significantly by associated extracardiac and chromosomal abnormalities. We sought to: determine the frequency and type of major extracardiac abnormalities (with impact on quality of life) and chromosomal abnormalities associated with fetal CHD; and compare the extracardiac abnormalities detected prenatally to the postnatal and autopsy findings in affected fetuses, to find the incidence of extracardiac abnormalities missed on prenatal ultrasound.

Methods: We reviewed the computerized database of the Division of Cardiology of the Hospital for Sick Children in Toronto to identify all cases of major CHD detected prenatally from 1990 to 2002.

Prospective experience with integrated prenatal screening and first trimester combined screening for trisomy 21 in a large Canadian urban center.

Objectives: To evaluate the performance of integrated prenatal screening (IPS) and first trimester combined screening (FTS) for trisomy 21 in a large Canadian urban center.

Method: Prospective data collection on women having FTS at one center from 1 November 2003 to 31 December 2005, or IPS at another from 1 January 2003 to 31 December 2005. A positive screen was defined as adjusted risk for trisomy 21 >or= 1/200 at term or nuchal translucency >or= 3.

Upregulation of HTLV-1 and HTLV-2 expression by HIV-1 in vitro.

Co-infections with HIV-1 and the human T leukemia virus types 1 and 2 (HTLV-1, HTLV-2) occur frequently, particularly in large metropolitan areas where injection drug use is a shared mode of transmission. Recent evidence suggests that HIV-HTLV co-infections are associated with upregulated HTLV-1/2 virus expression and disease. An in vitro model of HIV-1 and HTLV-1/2 co-infection was utilized to determine if cell free HIV-1 virions or recombinant HIV-1 Tat protein (200-1,000 ng/ml) upregulated HTLV-1/2 expression and infectivity.

Proteomics analysis of human amniotic fluid.

Amniotic fluid is a dynamic and complex mixture that reflects the physiological status of the developing fetus. In this study, the human amniotic fluid (AF) proteome of a 16-18-week normal pregnancy was profiled and analyzed to investigate the composition and functions of this fluid. Due to the complexity of AF, we utilized three different fractionation strategies to provide greater coverage.

Relationship between human T lymphotropic virus (HTLV) type 1/2 viral burden and clinical and treatment parameters among patients with HIV type 1 and HTLV-1/2 coinfection.

Background: Human T lymphotropic virus types 1 (HTLV-1) and 2 (HTLV-2) are frequent copathogens among individuals infected with human immunodeficiency virus type 1 (HIV-1). The long-term effects of coinfection are unknown, and little information exists regarding how levels of HTLV-1/2 viral burden are affected by antiretroviral medications.

Methods: Factors associated with HTLV-1/2 viral burden were examined in patients with HIV-HTLV-1/2 coinfection.

Human T cell leukemia virus type 1 up-regulation after simian immunodeficiency virus-1 coinfection in the nonhuman primate.

The effects that human T cell leukemia virus (HTLV) type 1 and simian immunodeficiency virus (SIV) coinfection have on HTLV-1 dynamics and disease progression were tested in a nonhuman primate model. Seven rhesus macaques were experimentally inoculated with HTLV-1, and a persistent infection was established. Coinfection with SIV/smB670 resulted in increased HTLV-1 p19 antigens in peripheral blood mononuclear cells and HTLV-1 proviral loads.

Prenatal detection of microtia by MRI in a fetus with trisomy 22.

Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial dysmorphism, and polygyria.

Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.

Objectives: 1. To present the prenatal cytogenetic findings and postnatal outcome of 12 cases with an isodicentric chromosome composed of the short arm of the Y chromosome.2.

Success rate for culture of fetal postmortem tissue is dependent on the method of pregnancy termination.

Objective: To determine the effect of different methods of pregnancy termination on the culture success rate of postmortem fetal tissue.

Methods: In a randomized trial, umbilical cord specimens were collected in a standardized manner and culture success rates were compared according to the method of pregnancy termination.

Results: There was a significantly higher culture success rate in the vaginal (90.

A randomised controlled trial of biopsy forceps and cannula aspiration for transcervical chorionic villus sampling.

Objective: This trial compared two instruments for transcervical chorionic villus sampling (CVS).

Design: Randomised controlled trial.

Setting: Regional university prenatal diagnosis and treatment centre.

Tetrasomy 9p mosaicism associated with a normal phenotype.

Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a healthy normal adult male with oligospermia who has fathered two normal children. This chromosomal abnormality may be tissue specific, with a higher detection rate in cultured lymphocytes compared with fibroblasts.

Functional disomy of Xp: prenatal findings and postnatal outcome.

We report on trisomy of the short arm of the X chromosome (Xp11.2 --> pter) due to a de novo unbalanced X;13 translocation diagnosed prenatally in a female fetus. Amniocentesis was performed at 20-weeks' gestation following ultrasound finding of a Dandy-Walker malformation.

Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging.

Objective: To report on the prenatal ultrasound findings in fetuses with lissencephaly associated with Miller-Dieker syndrome (MDS) and to compare these findings with those of magnetic resonance imaging (MRI).

Methods: Cases of MDS confirmed by postnatal chromosome microdeletion analysis were identified through review of patient records. Prenatal ultrasound scans were reviewed retrospectively by two radiologists.

Clinical outcomes and disease progression among patients coinfected with HIV and human T lymphotropic virus types 1 and 2.

The goal of this study was to investigate clinical outcomes and survival probabilities among persons coinfected with human immunodeficiency virus (HIV) and human T lymphotropic viruses types 1 and 2 (HTLV-I/II). A nonconcurrent cohort study of 1033 HIV-infected individuals was also conducted. Sixty-two patients were coinfected with HTLV-I, and 141 patients were coinfected with HTLV-II.

Randomized controlled trial of misoprostol for second-trimester pregnancy termination associated with fetal malformation.

Objective: Our purpose was to compare the effectiveness, women's views of the termination procedure, and success of umbilical cord culture for vaginal and oral misoprostol versus intra-amniotic prostaglandin PGF(2alpha) for second-trimester pregnancy termination (STPT).

Study Design: We randomized 217 women, 15 to 24 weeks' gestation, into 3 groups. Oral (OM) and vaginal (VM) misoprostol groups received 400 microg of misoprostol every 4 hours for 24 hours.

Human chromosome 7: DNA sequence and biology.

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion.

Objectives: An absent or hypoplastic thymus is common in patients with 22q11.2 deletion (del22q11.2).

Role of amniotic fluid interphase fluorescence in situ hybridization (FISH) analysis in patient management.

We retrospectively reviewed 309 amniotic fluid interphase fluorescence in situ hybridization (FISH) analyses performed from October 1995 to June 1999 to assess the role of interphase FISH in the management of patients at increased risk for fetal aneuploidies. Gestational age and indications for amniocentesis, clinical interventions after FISH results, as well as interventions after final culture reports were analyzed. There were 244 (79%) normal, 50 (16%) abnormal and 15 (5%) inconclusive FISH results.

Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.

A fetus with lobar holoprosencephaly and lumbosacral meningomyelocele associated with duplication of the short arm of chromosome 3 is reported. The anomalies were detected on fetal ultrasound at 20 weeks' gestation and the autopsy findings correlated well with the prenatal findings. The fetal karyotype was 46,XY,der(3)del(3)(p26) dup(3)(p26p21.

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.

Supravalvular aortic stenosis may present as an isolated finding or as part of Williams syndrome. Williams syndrome is a contiguous gene syndrome associated with neurodevelopmental and multisystemic manifestations caused by hemizygous deletion at 7q11.23.