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

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 …

Analysis Of The Effects And Current Treatments Of Laminin Deficiency, Joshua Mark Reynolds

Senior Honors Theses

Laminin (LM) is a network of proteins that functions as a connective framework of most cells in the body. It is composed of multiple different subunits and therefore has many different variations. It is a trimeric protein, meaning that it is composed primarily of ⍺, β, and γ chains. The differentiation of these subunits is what gives the different variants their functions. In addition, although LM is the primary molecule in scope, the network of other connective proteins involved in LM-associated diseases will also be covered in lesser detail because molecules like dystrophin, dystroglycan, collagen, and integrin are vital to …

When Old-Order Amish Meet New Order Science: Genetic Maladies And The Amish Dilemma, Kelley Downey

Undergraduate Research Conference

The Old World Amish, an Anabaptist Christian domination in the United States and Canada are know for their plain dress, avoidance of modern technology, and separation from the mainstream society.

A traditional agricultural religious group, the Old World Amish maintains isolation from the rest of the community. Financially well-off, they are homogeneous on education, occupation by gender, age at marriage, religion/ethnicity, and health care.

Although the Amish strongly discourage marriage between close cousins, the Lancaster Amish genealogy is described as mutational - inbreeding from multiple, remote connections rather than close consanguinity (first-cousin marriages).

Amish settlements have been identified with certain …

Novel Functions Of Acyl-Coa Thioesterases And Acyltransferases As Auxiliary Enzymes In Peroxisomal Lipid Metabolism., Mary Hunt, Stefan Alexson

Articles

Peroxisomes are single membrane bound organelles present in almost all eukaryotic cells, and to date have been shown to contain approximately 60 identified enzymes involved in various metabolic pathways, including the oxidation of a variety of lipids. These lipids include very long-chain fatty acids, methyl branched fatty acids, prostaglandins, bile acid precursors, and xenobiotics that are either β-oxidized or α-oxidized in peroxisomes. The recent identification of several acyl-CoA thioesterases and acyltransferases in peroxisomes has revealed their various functions in acting as auxiliary enzymes in α- and β-oxidation in this organelle. To date, 9 functional acyl-CoA thioesterases and acyltransferases have been …

Characterization Of Migrating Cells From Ventricular Zone (Vz) To Distant Limbic Structures After Multiple Neonatal Seizures, Melissa Corcia

Seton Hall University Dissertations and Theses (ETDs)

.

The Role Of Gap Junctions In Congenital Diseases Of The Heart, Scott Henry Britz-Cunningham

Loma Linda University Electronic Theses, Dissertations & Projects

Background. Gap junctions are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Connexin43, the major protein of gap junctions in the heart, is targeted by several protein kinases that regulate myocardial cell-cell coupling. We hypothesized that mutations altering sites critical to this regulation would lead to functional or developmental abnormalities of the heart.

Methods. Connexin43 DNA from 25 normal subjects and 30 children with a variety of congenital heart diseases was amplified by the polymerase chain reaction and sequenced. Mutant DNA was expressed in cell culture and examined for its effect …

Are Foxes Serious Predators Of Stock?, Peter Mawson, John Long

Journal of the Department of Agriculture, Western Australia, Series 4

Commercial farming of goats for mohair, cashmere and meat production is a rapidly developing industry in the south-west of Western Australia.

In this article, the authors discuss the results of two studies conducted by the Agriculture Protection Board in which the levels of predation of kids and lambs by foxes in commercial goat flocks, and an experimental multiple-birth genotype sheep flock in the southwest of Western Australia, were measured.

The Great Potato Debate, James D. Hudson

Honors Theses

Anencephaly and spina bifida cystica are two of the most common severe congenital malformations consistently observed in human populations. Both represent defects in the neural tube and share a significant number of similar epidemiological associations among them, occupational class, geography, sex ratio, maternal age, year and season of the year. In anencephaly most of the brain and upper skull never form usually resulting in death within a few hours of birth. Spina bifida cystica is a malformation of the spinal cord often causing paralysis, vulnerability to infection, and early death. In 1972, Dr. J.H. Renwick presented a controversial hypothesis which …

Etiology Of Congenital Heart Disease, Jami G. Shakibi

Henry Ford Hospital Medical Journal

The different factors involved in the etiology of congenital heart disease are discussed with particular attention lo the teratogenic agents. Experimental production of congenital heart disease in animals is reviewed. This seems to be a very promising field for investigations, which may eventually lead to an understanding of the etiology of congenital heart disease and its prevention.

A Growth Study On Phenylketonurics, Emma Johnson Aitken

Loma Linda University Electronic Theses, Dissertations & Projects

Data from forty-eight medical records of phenylketonuria children under treatment were investigated to determine if growth, as measured by stature, was normal; and to determine if the state of control or the age at beginning of treatment had an effect on growth. Mean intakes of phenylalanine, protein, and calories were obtained on the nutritional data only if the simultaneous serum phenylalanine was equal to or less than 6 milligrams per cent. These means were grouped according to the age of the children into 7 groups (0

The height at beginning of treatment and the last measured height was compared with …

Gonadal Dysgenesis (Turner's Syndrome) With Associated Liver Disease And Bleeding Esophageal Varices, Travis Bridwell

Henry Ford Hospital Medical Journal

No abstract provided.