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 22 for “"Short Stature"”.
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Influence of Body Mass Index on Growth Hormone Responses to Classic Provocative Tests in Children with Short Stature
… response to provocative testing in children with short stature. Materials and methods: Clinical data was collected retrospectively by chart review from the Pediatric Endocrine Unit at Ajou University Hospital. A total of 187 subjects with short stature who completed a GH stimulation testing …
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Refining the evaluation of growth and the growth hormone/insulin-like growth factor-I axis in children
… clinical approach to evaluating the child with short stature through refining the GHST, diagnostic fasting study and body composition evaluation; describing reference data for body composition and IGFs in infancy; and exploring novel genetic causes of disordered growth. Future work will focus on …
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ΑΝΕΠΑΡΚΕΙΑ ΑΥΞΗΤΙΚΗΣ ΟΡΜΟΝΗΣ: ΕΚΚΡΙΣΗ ΣΤΗ ΔΙΑΡΚΕΙΑ ΤΟΥ ΥΠΝΟΥ
… HORMONE DEFICIENCY AND 11 NORMAL CHILDREN WITH SHORT STATURE WERE STUDIED TO LOOK AT THIS QUESTION. ON DAY 1, BLOOD WAS DRAWN EVERY 20 MINUTES FOR 24 HOURS THROUGH AN INTRAVENOUS CATHETER TO OBTAIN THE GH LEVELS DURING THE ENTIRE TWENTY-FOUR HOUR PERIOD. AN ELECTRO-ENCEPHALOGRAM WAS ALSO …
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Characterization Of The Skeletal Phenotype In Idua-W392X Knock-In Mice: Bone Metabolism Biomarkers
… kyphosis, genu valgum, acetabular dysplasia, and short stature. Skeletal biomarkers of bone formation and bone resorption were compared in wild-type, heterozygous, and IDUAW392X mice. To investigate osteoblast activity, levels of the bone formation marker Procollagen type I N-terminal propeptide …
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Assessing the cognitive, behavioural and psychosocial profile of children with Russell Silver Syndrome
… born Small for Gestational Age (SGA) and having short stature and phenotypical facial features. A systematic review revealed a trend for SGA children is increasing cognitive difficulties with increasing age, possibly due to spatial difficulties. A comparison of the cognitive abilities of an RSS …
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Role of sedlin, a TRAPP complex subunit, in membrane trafficking and in the pathogenesis of Spondyleopyphiseal Dysplasia Tarda
… by impaired chondrogenesis resulting in short stature, flattening of the vertebrae, and premature osteoarthritis. The role of sedlin in the pathogenesis of SEDT disease so far is still unknown. Prompted by the consideration that sedlin is ubiquitously expressed but that sedlin mutations …
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High temperature stress responses of Salvia splendens and Viola X wittrockiana
… cultivar of pansy. Morphological traits such as short stature, greater total leaf area/plant, extensive root system; physiological traits like stomatal conductance, greater transpiration, and net photosynthesis were found to be characteristic traits of heat tolerant cultivars. Greater cell …
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The vegetation of Maud Island, Marlborough, New Zealand
… that over time, the vegetation is reverting from short stature grassland and scrub to predominantly forest scrub and young secondary forest.
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Assessing risk to native ecosystems: using exotic ants as a model
… I found open-canopy ecosystems, consisting of short stature vegetation, to be most vulnerable to exotic ant invasion with several exotic ant species found to be ubiquitous throughout. In comparison, the same species were generally limited to the edges of closed-canopy forest ecosystems, even …
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The Functional Roles for SWI/SNF Chromatin Remodeling Complexes in Physiology and Disease
… subunit, has been implicated in short stature, autism spectrum disorder, intellectual disability, and corpus callosum agenesis. In addition, ARID1B is the most common cause of Coffin-Siris Syndrome, a developmental delay syndrome characterized by some of the above abnormalities. …
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A multidisciplinary approach to reconstruct the lived-experience of people with ‘leprosy’ and Hansen’s Disease in medieval England
… that poor childhood health (enamel hypoplasia, short stature, cribra orbitalia, low dietary isotope values) increases the likelihood of (severe) HD infection in later life. Both (severe) HD infection and poor childhood health make it more likely that individuals are provided with additional care …
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Mechanistic Investigation of Genotype-Phenotype Correlations in PIK3R1-Related Diseases
… cause diverse disease phenotypes observed in SHORT syndrome (defined by Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay), the primary immunodeficiency Activated PI3K-$\delta$ Syndrome 2 (APDS2), and cancer. Initial studies of purified wildtype or mutant …
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Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing
… dominant multisystem disorder, characterised by short stature, distinctive facial dysmorphism, cardiovascular abnormalities and developmental delay. Its estimated incidence is 1:1000 to 1:2500 live births. NS is caused by germline mutations in more than ten genes encoding proteins integral to the …
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Examining Causal Determinants of Childhood Obesity and Pubertal Timing
… that rhGH promoted earlier pubertal timing, shorter pubertal duration, and reduced pubertal growth in children with idiopathic short stature (ISS), but not in children with other conditions such as chronic renal failure (CRF) or small for gestational age (SGA). This indicates that the effects …
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Skeletal muscle weakness and mitochondrial dysfunction in the osteogenesis imperfecta murine (oim) model
… muscle weakness, cardiopulmonary complications, short stature, and craniofacial abnormalities are also common. There is currently no cure for OI and therapeutic options rely on mitigating symptoms, primarily through the use of bone anti-resorptive agents referred to as bisphosphonates. Although, …
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IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE
… features including craniofacial defects, short stature, obesity, intellectual disability, self-abusive behavior, sleep disturbance and behavioral abnormalities. Interestingly, although SMS is a clearly defined syndrome with a known molecular change at its foundation, ~40% of all candidate …
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High resolution DNA copy number analysis of constitutional chromosomal aberrations in human genomic disorders
… by osteopoikilosis, mental retardation and short stature. This observation was facilitated through the identification of LEMD3 as the causal gene for osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis in the 12q14.3 deleted interval and subsequent, the finding of two …
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Composición de la microbiota en pacientes pediátricos con déficit de hormona de crecimiento antes y después de recibir tratamiento con hormona de crecimiento
… of bacterial translocation in children with ‘short stature’ and growth hormone deficiency with healthy controls, and also to study possible changes after GH treatment, which supports the interest of this work. In this regard, the increase observed in bacterial translocation in GH-deficient …
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Uncovering the molecular pathways of MBD5 in neurodevelopmental disorders
… speech, behavioral problems, seizures and short stature. This syndrome shares characteristics in common with other genetic syndromes, including Smith-Magenis (SMS, RAI1), Pitt-Hopkins (PTH, TCF4), Angelman (AS, UBE3A) and Rett (RTT, MECP2) syndromes, including ID, speech impairment, and …
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