Life Sciences Commons^™

Language And Literacy Development In Individuals With Velo­‐Cardio­‐Facial Syndrome, Kevin Antshel, Eileen Marrinan, Wendy Kates, Wanda Fremont, Robert Shprintzen

Robert J. Shprintzen

Velo-cardio-facial syndrome (VCFS) is a genetic disorder caused by a microdeletion of chromosome 22q11.2. Although there is some variability, VCFS is associated with a characteristic physical, behavioral, and cognitive phenotype. This review article focuses on aspects of language and literacy development in VCFS, describing what is known and offering avenues for future research. The most consistently reported language and literacy findings in the VCFS population include reading, spelling, phonological processing, and auditory verbal rote memory abilities as areas of relative strength. Receptive language abilities are noted to be relatively stronger than expressive language abilities in individuals with VCFS. Speech disorders …

Atlas-Based White Matter Analysis In Individuals With Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome) And Unaffected Siblings, Petya Radoeva, Ioana Coman, Kevin Antshel, Wanda Fremont, Christopher Mccarthy, Ashwini Kotkar, Dongliang Wang, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

Background: Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the WM microstructure. The goal of the current study was to characterize the WM microstructural differences in individuals with VCFS and unaffected siblings, and the correlation of WM microstructure with neuropsychological performance. We hypothesized that individuals with VCFS would have decreased indices …

Velo-Cardio-Facial Syndrome, Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert Shprintzen

Robert J. Shprintzen

Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and …

Genomic Disorders On Chromosome 22, Shihui Yu, William Graf, Robert Shprintzen

Robert J. Shprintzen

Purpose of review: Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat sequences that precipitate a high frequency of nonallelic homologous misalignments and unequal recombination during meiosis. Among these is one of the most common multiple anomaly syndromes in humans and the most common microdeletion syndrome, velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome and DiGeorge syndrome. This review will focus on the recent literature dealing with both the molecular and clinical aspects of chromosome 22 genomic variations. Although the literature …

Assessing The Use Of Non-Lethal Tail Clips For Measuring Stable Isotopes Of Plethodontid Salamanders, Joseph Milanovich, John Maerz

Joseph Milanovich

Stable isotopes are increasingly used in ecology to study the diets, trophic position, and migratory patterns of wildlife including herpetofauna. When using stable isotopes, it is important to consider which tissues can or should be sampled, and how selecting tissues may affect the inferences drawn from stable isotope data. Amphibians offer fewer tissues than other larger organisms that can be harvested in sufficient quantity without killing the animal; however, many salamanders have tails that readily autotomize and regenerate. We used three species of plethodontid salamander (Plethodon cinereus, P. metcalfi, and Desmognathus quadramaculatus) to determine whether distal tail tissue had carbon …

Lead-Phase And Red-Stripe Color Morphs Of Red-Backed Salamanders (Plethodon Cinereus) Differ In Hematological Stress Indices: A Consequence Of Differential Predation Pressure?, Andrew Davis, Joseph Milanovich

Joseph Milanovich

Throughout the animal kingdom there are species that have two or more phenotypic forms or ‘morphs’, and many of these are amphibians. In North America, the red-backed salamander Plethodon cinereus can have either a red dorsal stripe or no dorsal stripe (lead-phase form), and evidence to date indicates the lead-phase form incurs a greater number of attacks from predators. In a recent collection of 51 P. cinereus, blood smears of both color morphs (35 red-stripe, 16 lead-phase) were examined to obtain numbers of circulating leukocytes (via light microscopy), which can be used to indirectly estimate levels of stress hormones in …

The Effects Of Home-Based Pilates In Healthy College-Age Females, Betsy Donahoe-Fillmore, Mary Fisher, C. Brahler

C. Jayne Brahler

Objectives: To quantify and determine the effects of Pilates on core endurance, hamstring flexibility, balance, body composition/mass and perceived stress level in healthy college age females.

Study Design: Randomized controlled trial design.

Background: Emerging research on the Pilates technique is inconclusive regarding benefits to core endurance, flexibility, balance, body mass, and perceived stress.

Methods and Measures: Female college students (n=57; 18-35 years old) were randomly assigned to a Pilates group, who exercised at home with a DVD, or a control group who did not engage in Pilates practice. Core endurance, hamstring flexibility, balance, body composition and stress measurements were taken …

A Comparison Of Two Pelvic Floor Muscle Training Programs In Females With Stress Urinary Incontinence: A Pilot Study, Betsy Donahoe-Fillmore, Wendy Chorny, C. Brahler, Ashley Ingley, Jennifer Kennedy, Valerie Osterfeld

C. Jayne Brahler

Background: Stress urinary incontinence (SUI) is a condition affecting millions of Americans. Few studies have assessed the benefits of different exercises involved in pelvic floor muscle training (PFMT). Purposte: The purpose of this study was to compare the effects of a traditional PFMT program to an assisted pelvic floor muscle training (APFMT) program that included contraction of hip musculature.

Projected Loss Of A Salamander Diversity Hotspot As A Consequence Of Projected Global Climate Change, Joseph Milanovich, William Peterman, Nathan Nibbelink, John Maerz

Joseph Milanovich

Significant shifts in climate are considered a threat to plants and animals with significant physiological limitations and limited dispersal abilities. The southern Appalachian Mountains are a global hotspot for plethodontid salamander diversity. Plethodontids are lungless ectotherms, so their ecology is strongly governed by temperature and precipitation. Many plethodontid species in southern Appalachia exist in high elevation habitats that may be at or near their thermal maxima, and may also have limited dispersal abilities across warmer valley bottoms.

Animal Cryptochromes Mediate Magnetoreception By An Unconventional Photochemical Mechanism, Robert Gegear, Lauren Foley, Amy Casselman, Steven Reppert

Robert J. Gegear

Understanding the biophysical basis of animal magnetoreception has been one of the greatest challenges in sensory biology. Recently it was discovered that the light-dependent magnetic sense of Drosophila melanogaster is mediated by the ultraviolet (UV)-A/blue light photoreceptor cryptochrome (Cry). Here we show, using a transgenic approach, that the photoreceptive, Drosophila-like type 1 Cry and the transcriptionally repressive, vertebrate-like type 2 Cry of the monarch butterfly (Danaus plexippus) can both function in the magnetoreception system of Drosophila and require UV-A/blue light (wavelength below 420 nm) to do so. The lack of magnetic responses for both Cry types at wavelengths above 420 …

National Park Service Nonnative Plant Control In The Indiana Dunes National Lakeshore, Jacob Halpin, Laurie Eberhardt, Laura Thompson

Laurie Eberhardt

Invasive plants have become a growing threat to plant diversity and hydrology in the Indiana Dunes National Lakeshore. Invasive plants compete with native plants for nutrients and sunlight, and certain invasive species have been known to completely take over certain areas of wetlands, nearly destroying entire ecosystems. The Dunes Lakeshore contains over 1,400 plants species and is one of the top ten most diverse national parks in the United States. The mission statement of the National Park Service is to “preserve for the educational, inspirational, and recreational use of the public certain portions of the Indiana Dunes.” In order …

Food Justice Now!, Mark Vallianatos

Mark Vallianatos

No abstract provided.

Test Items In The Complete And Short Forms Of The Bot-2 That Contribute Substantially To Motor Performance Assessments In Typically Developing Children 6-10 Years Of Age, Kadi Carmosino, Ashley Grzeszczak, Kaylie Mcmurray, Ali Olivo, Bo Slutz, Brittany Zoll, Betsy Donahoe-Fillmore, C. Brahler

C. Jayne Brahler

Objectives: Determine the magnitude of association between individual subtest items of the Bruininks-Oseretsky Test of Motor Proficiency, second edition (BOT-2), and the respective total subtest scores and to review items on the BOT-2 Short Form. Background: The Bruininks-Oseretsky Test of Motor Proficiency, second edition (BOT-2), is a test used to measure gross motor proficiency in both typically developing children and children with developmental disabilities between the ages of four and twenty-one. The BOT-2 Short Form consists of fourteen test items proportionally selected from the subtests of the Complete Form. It can be used as a screening tool and takes less …

An Analysis Of Functional Status In Multiple Sclerosis Patients After Progressive Non-Aerobic High-Intensity Maximal Effort Exercise (Mee), Hilda Lai, Michael Kuchera, R Dombroski, T Vardy, F Thomas, S O’Brien, P Yagnik, K Wenzel, S Stoll, Bruce Stouch, M. T. Wallin, I. Vargas,, Olufolake Odutola

Michael Kuchera

Background: Multiple Sclerosis (MS) is a disease with a wide-ranging impact on functional status. MS patient function has been assessed using Multiple Sclerosis Functional Composite Score (MSFCS). The MSFCS includes the standardized scores (Z-score) of three functional tests: the Paced Auditory Serial Addition Test (PASAT-3”) for cognitive function, 9-Hole Peg Test (9-HPT) for upper extremity function, and timed 25-foot walk (25-TW) for lower extremity function. One of the most common symptoms experienced by MS patients is severe fatigue, often brought on suddenly by aerobic exercise. Non-aerobic maximal effort exercise (MEE) is thought to increase strength without increasing fatigue. The IsoPUMP® …

Homoplastic Microinversions And The Avian Tree Of Life, Edward Braun, Rebecca Kimball, Kin-Lan Han, Naomi Iuhasz-Velez, Amber Bonilla, Jena Chojnowski, Jordan Smith, Rauri Bowie, Michael Braun, Shannon Hackett, John Harshman, Christopher Huddleston, Ben Marks, Kathleen Miglia, William Moore, Sushma Reddy, Frederick Sheldon, Christopher Witt, Tamaki Yuri

Sushma Reddy

Abstract Background Microinversions are cytologically undetectable inversions of DNA sequences that accumulate slowly in genomes. Like many other rare genomic changes (RGCs), microinversions are thought to be virtually homoplasy-free evolutionary characters, suggesting that they may be very useful for difficult phylogenetic problems such as the avian tree of life. However, few detailed surveys of these genomic rearrangements have been conducted, making it difficult to assess this hypothesis or understand the impact of microinversions upon genome evolution. Results We surveyed non-coding sequence data from a recent avian phylogenetic study and found substantially more microinversions than expected based upon prior information about …

Genetic And Acute Cpeb1 Depletion Ameliorate Fragile X Pathophysiology, Tsuyoshi Udagawa, Natalie Farny, Mira Jakovcevski, Hanoch Kaphzan, Juan Alarcon, Shobha Anilkumar, Maria Ivshina, Jessica Hurt, Kentaro Nagaoka, Vijayalaxmi Nalavadi, Lori Lorenz, Gary Bassell, Schahram Akbarian, Sumantra Chattarji, Eric Klann, Joel Richter

Natalie G. Farny

Fragile X syndrome (FXS), the most common cause of inherited mental retardation and autism, is caused by transcriptional silencing of FMR1, which encodes the translational repressor fragile X mental retardation protein (FMRP). FMRP and cytoplasmic polyadenylation element-binding protein (CPEB), an activator of translation, are present in neuronal dendrites, are predicted to bind many of the same mRNAs and may mediate a translational homeostasis that, when imbalanced, results in FXS. Consistent with this possibility, Fmr1(-/y); Cpeb1(-/-) double-knockout mice displayed amelioration of biochemical, morphological, electrophysiological and behavioral phenotypes associated with FXS. Acute depletion of CPEB1 in the hippocampus of adult Fmr1(-/y) mice …

Influence Of Env And Long Terminal Repeat Sequences On The Tissue Tropism Of Avian Leukosis Viruses, David Brown, Harriet Robinson

David C. Brown

Adsorption and penetration of retroviruses into eucaryotic cells is mediated by retroviral envelope glycoproteins interacting with host receptors. Recombinant avian leukosis viruses (ALVs) differing only in envelope determinants that interact with host receptors for subgroup A or E ALVs have been found to have unexpectedly distinctive patterns of tissue-specific replication. Recombinants of both subgroups were highly expressed in bursal lymphocytes as well as in cultured chicken embryo fibroblasts. In contrast, the subgroup A but not subgroup E host range allowed high levels of expression in skeletal muscle, while subgroup E but not subgroup A envelope glycoproteins permitted efficient replication in …

The Use Of Objective Data To Improve Interexaminer Reliability, Veronica Ferencz, Frank Casella, Jeffrey Nelson, Nicole Myers, Michael Kuchera

Michael Kuchera

BACKGROUND: In Osteopathic Manipulative Medicine (OMM) and Manual/Musculoskeletal Medicine (MMM), palpatory diagnosis is performed on a regular basis to diagnose somatic dysfunction (SD). This examination requires careful and precise touch coupled with subjective interpretation by individual examiners who may have been trained to evaluate SD through different methods. Interexaminer reliability studies aim to minimize variance by providing quantifiable scientific data to evaluate specific test protocols which can then be taught to practitioners. In a previous PCOM study, two examiners independently diagnosed innominate bone dysfunction lateralized using the ASIS compression test on a large group of subjects. A pressure monitoring system …

Nilgai Antelope In Northern Mexico As A Possible Carrier For Cattle Fever Ticks And Babesia Bovis And Babesia Bigemina., E Cardenas-Canales, J. Alfonso Ortega-Santos, Tyler A. Campbell, Zeferino Garcia-Vaquez, Antonio Cantu-Covarrubias, Julio Figueroa-Millian, Randy W. Deyoung, David G. Hewitt, Fred Bryant

Fred B. Bryant

Of 20 blood samples from nilgais from Me´ xico, five were polymerase chain reaction-positive for Babesia bigemina and one for Babesia bovis. Positive samples had the expected 170 (B. bigemina) and 291 (B. bovis) base pairs and were identical to Gen-Bank B. bigemina accession S45366 and B. bovis M38218.

Adjustment Of Value Productivity Estimates To Changes In Price And Technical Relationships , David Brown

David C. Brown

No abstract provided.

Farm To School: Strategies For Urban Health, Combatting Sprawl, And Establishing Community Food Systems, Mark Vallianatos, Robert Gottlieb, Margaret Haase

Mark Vallianatos

Farm-to-school is a new, innovative strategy with multiple planning-related objectives. The article evaluates the significance of farm-to-school in relation to improving the health and nutrition of school-age children, particularly low-income youth; strengthening the capacity of local farmers, particularly those engaged in sustainable practices; adding to the toolkit of strategies designed to contain and ultimately reduce sprawl-inducing developments by helping preserve farmland; and helping establish a community food systems approach no longer entirely dependent on the global food system that has come to dominate food growing, processing, distribution, and consumption patterns around the world.

Comparative Phyloclimatic Analysis And Evolution Of Ecological Niches In The Scimitar Babblers (Aves: Timaliidae: Pomatorhinus), Arpad Nyari, Sushma Reddy

Sushma Reddy

We present the first extensive and integrative analysis of niche evolution based on climatic variables and a dated molecular phylogeny of a heterogeneous avian group of Southeast Asian scimitar babblers of the genus Pomatorhinus. The four main clades of scimitar babblers have species that co-occur in similar areas across southern Asia but some have diverged at different timeframes, with the most recently evolved clade harboring the highest number of species. Ecological niche models and analysis of contributing variables within a phylogenetic framework indicate instances of convergent evolution of members of different clades onto similar ecological parameter space, as well …

Using Gis Mapping Of The Extent Of Nearshore Rocky Reefs To Estimate The Abundance And Reproductive Output Of Important Fishery Species, Jeremy Claisse, Daniel Pondella, Jonathan Williams, James Sadd

James Sadd

Kelp Bass (Paralabrax clathratus) and California Sheephead (Semicossyphus pulcher) are economically and ecologically valuable rocky reef fishes in southern California, making them likely indicator species for evaluating resource management actions. Multiple spatial datasets, aerial and satellite photography, underwater observations and expert judgment were used to produce a comprehensive map of nearshore natural rocky reef habitat for the Santa Monica Bay region (California, USA). It was then used to examine the relative contribution of individual reefs to a regional estimate of abundance and reproductive potential of the focal species. For the reefs surveyed for fishes (i.e. 18 …

Lower Extremity Passive Range Of Motion In Community-Ambulating Stroke Survivors, Sheila Schindler-Ivens, Davalyn Desimone, Sarah Grubich, Carolyn Kelley, Namita Sanghvi, David Brown

David C. Brown

Background: Physical therapists may prescribe stretching exercises for individuals with stroke to improve joint integrity and to reduce the risk of secondary musculoskeletal impairment. While deficits in passive range of motion (PROM) exist in stroke survivors with severe hemiparesis and spasticity, the extent to which impaired lower extremity PROM occurs in community-ambulating stroke survivors remains unclear. This study compared lower extremity PROM in able-bodied individuals and independent community-ambulatory stroke survivors with residual stroke-related neuromuscular impairments. Our hypothesis was that the stroke group would show decreased lower extremity PROM in the paretic but not the nonparetic side and that decreased PROM …

Infection Of Peripancreatic Lymph Nodes But Not Islets Precedes Kilham Rat Virus-Induced Diabetes In Bb/Wor Rats, David Brown, Raymond Welsh, Arthur Like

David C. Brown

A parvovirus serologically identified as Kilham rat virus (KRV) reproducibly induces acute type I diabetes in diabetes-resistant BB/Wor rats. The tissue tropism of KRV was investigated by in situ hybridization with a digoxigenin-labelled plasmid DNA probe containing approximately 1.6 kb of the genome of the UMass isolate of KRV. Partial sequencing of the KRV probe revealed high levels of homology to the sequence of minute virus of mice (89%) and to the sequence of H1 (99%), a parvovirus capable of infecting rats and humans. Of the 444 bases sequenced, 440 were shared by H1. KRV mRNA and DNA were readily …

Biaxial Failure Properties Of Planar Living Tissue Equivalents, Kristen Billiar, Angela Throm, Margo Frey

Kristen L. Billiar

Quantification of the mechanical properties of living tissue equivalents (LTEs) is essential for assessing their ultimate functionality as tissue substitutes, yet their delicate nature makes failure testing problematic. For this study, we evaluated the validity of using an inflation device for quantifying the biaxial tensile failure properties of extremely delicate fibroblast-populated collagen gels (CGs) and fibrin gels (FGs). Small samples were circularly clamped and then inflated until rupture. Each sample assumed an approximately spherical shape and burst at its center indicating effective clamping. After two weeks in culture, all LTEs tested were fragile, but the FGs were significantly stronger and …

Navigational Mechanisms Of Migrating Monarch Butterflies, Steven Reppert, Robert Gegear, Christine Merlin

Robert J. Gegear

Recent studies of the iconic fall migration of monarch butterflies have illuminated the mechanisms behind their southward navigation while using a time-compensated sun compass. Skylight cues, such as the sun itself and polarized light, are processed through both eyes and are probably integrated in the brain's central complex, the presumed site of the sun compass. Time compensation is provided by circadian clocks that have a distinctive molecular mechanism and that reside in the antennae. Monarchs might also use a magnetic compass because they possess two cryptochromes that have the molecular capability for light-dependent magnetoreception. Multiple genomic approaches are now being …

Food Justice And Food Retail In Los Angeles, Mark Vallianatos

Mark Vallianatos

No abstract provided.

Acute Effects Of Whole-Body Vibration On Lower Extremity Muscle Performance In Persons With Multiple Sclerosis, Kurt Jackson, Harold Merriman, Paul Vanderburgh, C. Brahler

C. Jayne Brahler

Background and Purpose: Whole-body vibration (WBV) is a relatively new form of exercise training that may influence muscle performance. This study investigated the acute effects of high (26 Hz) and low (2 Hz) frequency WBV on isometric muscle torque of the quadriceps and hamstrings in persons with multiple sclerosis (MS).

Participants and Method: Fifteen individuals (mean age = 54.6 years, SD = 9.6) with MS and Expanded Disability Status Scale (EDSS) scores ranging from 0-6.5 (mean = 4.2, SD = 2.3) participated in this randomized cross-over study. Following baseline measures of isometric quadricep and hamstring torque, subjects were exposed to …

Inter-Examiner Reliability Of An Anterior Superior Iliac Spine Compression Test Used To Lateralize Pelvic Somatic Dysfunction To The Right Side Or Not, Frank Casella, Michael Kuchera, Nicole Myers, Jeffrey Nelson, Veronica Ferencz

Michael Kuchera

BACKGROUND: Osteopathic physicians use a number of palpatory structural examinations to diagnose pelvic somatic dysfunction (SD). They may elect to use the Anterior Superior Iliac Spine (ASIS) Compression Test to lateralize the dysfunctional side. Accurate, reliable tests are crucial to neuromusculoskeletal diagnosis and this study employs the kappa (κ) analysis protocol recommended for assessing interexaminer reliability of manual medicine tests (published by the Fédération Internationale de Médecine Manuelle [FIMM]). κ-values ≥0.40 (moderate agreement) are considered to be acceptable for use in the clinical setting.