Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 38 for “"Congenital, Hereditary, and Neonatal Diseases and Abnormalities"”.
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Educator's Implementation of the Connecticut Guidelines for the Identification and Education of Children and Youth with Autism
… Connecticut Guidelines for the Identification and Education of Children and Youth with Autism (2005), (Guidelines). At this time there have been no studies done in the State of Connecticut to assess the implementation of the components for effective education of children with autism, as set …
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Congenital Hypertrophic Pyloric Stenosis
<p><strong>[Abstract Not Included]</strong></p> <p><strong>[Signature page Not Included]</strong></p>
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Analysing small-sample-sized methylation data to identify biomarkers for congenital heart defects
Congenital Heart Defects (CHDs) are the most common type of human congenital anomaly, representing 0.8~1.2% of infants at birth and accounting for over 40% of prenatal deaths. Although the exact aetiology remains a significant challenge, epigenetic modifications, such as Deoxyribonucleic Acid (DNA) …
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Natural History Study of Arthrogryposis Multiplex Congenita, Amyoplasia Type
… to describe the clinical finding of multiple congenital contractures. There are more than 300 distinct disorders associated with arthrogryposis. Amyoplasia is the most common type of arthrogryposis and is often referred to as the “classic” type. There is no known cause of amyoplasia and no …
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Evaluating The Utility of Clinical Criteria For The Identification of Lynch Syndrome Among Endometrial Cancer Patients
… syndrome with a high prevalence of colorectal and endometrial carcinomas among affected family members. Clinical criteria, developed from information obtained from familial colorectal cancer registries, have been generated to identify individuals at elevated risk for having LS. In 2007, the …
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A Growth Study on Phenylketonurics
… 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 …
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An Assessment of Obesity and Hyperphagia In Individuals With Smith-Magenis Syndrome
… syndrome (SMS;OMIM# 182290) is a multiple congenital anomalies and mental retardation syndrome caused by a 3.7- Mb deletion on chromosome 17p11.2 or a mutation in the RAI1 gene. Although the majority of the SMS phenotype has been well described, limited studies are available describing …
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The Effects of Various Therapeutics on Cystine Stone Formation
… is deficient, cystine cannot be broken down and reabsorbed by the body and is excreted via urine in high concentrations. The high levels of cystine present in the urine eventually lead to recurrent cystine urolithiasis due to its inability to solubilize. Despite having various forms of …
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Uncovering a fundamental mechanism underlying female oocyte quality and RASopathies using C. elegans as a model system
… networks that allow cells to communicate between and within themselves. They are crucial for the coordination of diverse cellular processes and are the molecular mechanism in which cells sense and respond to their environment. RAS (Rat Sarcoma) is a small GTPase that transmits extracellular growth …
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Breast Cancer Risk For Female Relatives of Male Breast Cancer Patients With Negative Brca1/2 Testing
… risk of breast cancer in the absence of a hereditary predisposition to cancer, namely Hereditary Breast and Ovarian Cancer syndrome. These risk models consider various factors such as reproductive history and family history, but few models take a family history of male breast cancer into …
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Characteristics of Individuals Undergoing Panel Genetic Testing For Primary Brain Tumors
… of the family history, tumor grade, pathology, and their relation to genetic contribution. Our aim was to describe patient-specific characteristics and family histories across mutation-positive, negative, and variant of uncertain significance (VUS) cohorts based on cancer-panel genetic test …
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Factors That Impact Uptake of Carrier Screening By Male Reproductive Partners of Female Prenatal Patients
… confirms that despite published recommendations and original intentions of the patient and/or her partner to follow such recommendations, the majority of male partners are not completing carrier screening after their female partner screens positive for an autosomal recessive condition. Future …
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Factors that Contribute to Life Satisfaction of Parents of Children with Autism Spectrum Disorder in Trinidad & Tobago
… <p>The goal of the study was to understand factors contributing to life satisfaction of parents of children with autism spectrum disorder (ASD) from the perspective of positive psychology. The challenges of parenting a child with ASD have been documented extensively, with these parents …
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Genetic Testing Uptake and Yield in Patients with Male Breast Cancer
… predisposition, most commonly in <em>BRCA1</em> and <em>BRCA2</em>. Despite established guidelines recommending germline testing for all patients with MBC, there is wide variability in the reported prevalence of germline pathogenic variants (gPV) in this population, and the risk for MBC in …
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Phenotypic And Electrophysiologic Characterization of a Mouse Model of Fragile X Syndrome
… children with FXS exhibit autistic behaviors and deficits in motor coordination including speech articulation deficits. The development of the FMR1 knockout (Fmr1 KO) mouse, in which the Fmr1 gene is inactivated, has provided an animal model that can be used to investigate underlying …
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Phylogenetic Analysis of Human Cytomegalovirus pUS27 and pUS28: Ascertaining an Independent or Linked Evolutionary History
… particularly skilled at evading immune detection and defense mechanisms, largely due to extensive co-evolution with its host’s immune system. One aspect of this co-evolution involves the acquisition of four virally encoded GPCR chemokine receptor homologs, products of the US27, US28, UL33 and UL78 …
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Functional Characterization of the C-terminal Cholinesterase-Like (ChEL) Domain of the Thyroid Hormone Precursor Protein
… (Tg), composed of upstream regions I-II-III and a C-terminal cholinesterase-like (ChEL) domain, which bears 47% similarity to acetylcholinesterase (AChE). Mutations in Tg cause congenital hypothyroidism, the most common congenital endocrinopathy affecting 1 in 2,000-4,000 newborns, with a …
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Perceived Utility of Genetic Carrier Screening In A Diverse Patient Population
… select genes associated with autosomal recessive and X-linked inheritance. Recent American College of Medical Geneticists (ACMG) guidelines call for utilization of expanded screening that analyzes carrier status for up to hundreds of conditions. In these guidelines, clinical utility is based on …
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The Relationships Among Adaptive Behaviors of Children with Autism Spectrum Disorder, Their Family Support Networks, Parental Stress, and Parental Coping
… their family support networks, parental stress, and parental coping and the relationships among these variables. </p> <p><strong>Background: </strong> Autism is the fastest growing diagnosed developmental disorder. When parents receive a diagnosis of autism for their child, mothers and fathers …
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