Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

A Timeline Of Klinefelter’S Syndrome, Xxy, Emma Chevalier, Tyler Venegas, Mary Salibi

Undergraduate Research Symposium Posters

Klinefelter Syndrome (KS) is a non-mendelian chromosomal disorder consisting of supernumerary X chromosomes in males, 80% of which manifest as the 47,XXY karyotype. The resulting gene dosage abnormalities affect both cognitive and physical development, with variable expressivity. The disease was first described by Harry Klinefelter in 1942 and was thought to be an endocrine disorder until the late 1950s, when karyotyping of affected individuals revealed an extra X chromosome.

(It is the most common sex chromosome aneuploidy (1:500 males) and the most common cause of azoospermia. The phenotype for KS is highly contested due to its extremely variable expressivity and …

Sociodemographic And Biological Factors Of Health Disparities Of Mothers And Their Very Low Birth-Weight Infants, June Cho, Lung-Chang Chien, Diane Holdtich-Davis

Nursing Faculty Research

Background: Black mothers and their very low birth-weight infants in the United States have increased risk of adverse neonatal and maternal health outcomes compared with White mothers and infants. Disparities in adverse birth outcomes associated with sociodemographic factors are difficult to quantify and modify, limiting their usefulness in assessing intervention effects. Purpose: To test hypotheses that (1) the biological factors of maternal testosterone and cortisol are associated with sociodemographic factors and (2) both factors are associated with neonatal health and maternal mental health and healthy behaviors between birth and 40 weeks' gestational age. Methods: We used a descriptive, longitudinal design. …

Altered Central Hemodynamics In Individuals With Down Syndrome, Thessa Irena Maria Hilgenkamp, Elizabeth Cornellia Schroeder, Sang Ouk Wee, Georgios Grigoriadis, Alexander Jacob Rosenberg, Tracy Baynard, Bo Fernhall

Physical Therapy Faculty Research

Background: Individuals with Down Syndrome (DS) have autonomic dysfunction impacting regulation of heart rate, Blood Pressure (BP), and peripheral vasoconstriction. This may alter central hemodynamics through different wave reflections. We investigated central hemodynamics including wave reflection during rest and a sympathoexcitatory stimulus [Lower Body Negative Pressure (LBNP)] in individuals with DS and controls. Methods: Radial applanation tonometry was performed on participants with and without DS before and during 5-min LBNP stimulus of −20 mmHg. Waveforms were calibrated to mean and diastolic BP. Generalized transfer function was used to estimate aortic pressures [Systolic Blood Pressure (aSBP), Diastolic Blood Pressure (aDBP), mean …

Permanent Junctional Reciprocating Tachycardia In Infants And Children, Ranjit I. Kylat Md, Ricardo A. Samson

School of Medicine Faculty Research

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of supraventricular tachycardia (SVT). It generally presents in infants but can be difficult to diagnose. The characteristic EKG findings, response to Adenosine and persistence or frequent recurrences are helpful in making the diagnosis. It is usually difficult to manage with the initial and single medications used in SVT. Many patients are misdiagnosed and not treated effectively and end up having end stage cardiomyopathy and are diagnosed in patients referred for transplant. Hence all patients referred for a cardiac transplant with dilated cardiomyopathy need to be evaluated for this arrhythmia. If appropriate …

Birth History As A Predictor Of Adverse Birth Outcomes: Evidence From State Vital Statistics Data, Dejun Su, Kaeli Samson, Ashvita Garg, Corrine Hanson, Ann L. Anderson Berry, Ge Lin Kan, Ming Qu

School of Public Health Faculty Research

One of the most important predictors of preterm births (PTBs) or low-birth-weight births (LBWBs) is whether a mother has had a history of these birth outcomes. This study examined how different characterizations of birth history (e.g., any previous incidence of PTBs or LBWBs, immediate previous birth that was preterm or of low birth weight, and number of previous PTBs or LBWBs) were associated with PTBs or LBWBs. Based on birth records (n = 98,776) reported to the vital statistics electronic registration system in Nebraska from 2005 to 2014, mothers with a history of PTBs or LBWBs were more likely to …

Feasibility Of A Community-Based Sickle Cell Trait Testing And Counseling Program, Ashley Housten, Regina Abel, Terianne Lindsey, Allison King

Journal of Health Disparities Research and Practice

Background: Sickle cell trait (SCT) screening is required at birth in the United States; however, adults rarely know their SCT status prior to having children.

Purpose: Assess feasibility of a community-based SCT education and testing intervention.

Methods: Participants were recruited from eight community sites to complete an educational program and offered a hemoglobin analysis. A genetic counselor met individually with participants to discuss lab results.

Results: Between July 14, 2010 and May 31, 2012, 637 participants completed the educational program. Five hundred seventy (89.5%) provided a blood sample, and 61 (10.9%) had SCT or other hemoglobinopathies. The genetic counselor met …

Immediate Effects Of High Intensity Training In Children With Cerebral Palsy Gmfcs Levels I-Iii: A Pilot Study, Andrea Blahovec, Andrea Kuiken, Jillian Mears, Heather Riggins

UNLV Theses, Dissertations, Professional Papers, and Capstones

Background: Cerebral Palsy is one of the most common causes of motor disability in the U.S., but there is still a lack of consensus for best intervention strategies to improve function and gait efficiency.

Objective: Determine if ambulatory children with CP, exposed to a brief, high intensity training session, will: 1) experience changes in temporal-spatial gait characteristics 2) demonstrate increased gait speed and 3) demonstrate improved gait kinematics.

Design: Five participants walked at preferred and fast speeds over an instrumented walkway followed by a 15-minute intervention. After a short rest, post-intervention walking was completed.

Results: Ten dependent variables were extracted …

Should Designer Babies Be Regulated?, Alec Madriaga, Natasha Bates

Festival of Communities: UG Symposium (Posters)

Designer babies have been frequently used to help prevent genetic defect of offspring. The two main procedures that can help prevent offspring of having a genetic defect is by IVF, In Vitro Fertilization, or PGD, Preimplantation Genetic Disorder. It is a topic currently being debated ethically on whether it is okay to design a baby and how far people may take the procedures to design a baby before it gets out of hand. Two sides can be approached to this topic: Should designer babies be regulated or should it not be regulated? A concern that is plaguing the minds of …

Women, Children And Aids, Mary Guinan

School of Public Health Faculty Research

More than 500 cases of acquired immune deficiency syndrome (AlDS) in children (ages I3 and under) had been reported to the Centers for Disease Control as of August , 1987. Of these children, 78% were infected perinatally by their mothers. The ratio of AIDS cases among women to AIDS cases among ; i children has remained stable at approximately 5:1 for several years. So, for the foreseeable future, we can expect that for every five reports of women with AIDS, one child with AIDS will be reported. As is the CMe with other sexually transmitted diseases, AIDS causes a disproportionately …