5,363 research outputs found
Effectiveness of growth hormone therapy in children with Noonan syndrome
No full textPURPOSE: Recombinant human growth hormone (rhGH) has been used to improve growth in children with Noonan syndrome (NS). This study aimed to investigate the efficacy of rhGH therapy in Korean children with NS. METHODS: Seventeen prepubertal children (10 boys, 7 girls) with NS who received rhGH therapy for at least 3 years between 2008 and 2017 were included. To compare the response, age- and sex-matched children with GH deficiency (GHD; n=31) were included. Height and growth velocity before and during treatment were analyzed. RESULTS: The mean age of NS patients was 6.34+/-2.32 years. After treatment, the height standard deviation score (SDS) increased from -2.93+/-0.81 to -1.51+/-1.00 in patients with NS and from -2.45+/-0.42 to -1.09+/-0.47 in patients with GHD. There were no significant differences in growth velocity or change in height SDS between patients with NS and GHD. Growth velocity in the first year of treatment was higher in patients with PTPN11 mutations than those without PTPN11 mutations, but the change in height SDS was not significantly different between those 2 groups. CONCLUSION: rhGH therapy can increase linear growth in prepubertal children with NS. The growth response between patients with NS and patients with GHD was not significantly different. Furthermore, we observed that lower doses of growth hormone have a similar effect on height compared to previous studies in patients with NS. Our study indicates that rhGH treatment is useful for growth promotion
Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing
No full textOBJECTIVE: Genetic factors play a critical role in pubertal progression; however, mutations associated with central precocious puberty (CPP) have been reported only in four genes: KISS1, KISS1R, DLK1, and MKRN3. This study aimed to identify novel, potentially pathogenic variants in patients with familial CPP via whole-exome sequencing (WES).
METHODS: WES analysis was applied in 28 patients (25 girls and three boys) belonging to 14 families, wherein all siblings were diagnosed with CPP. Data analysis aimed to select only very rare variants (minor allele frequency <1%). Nonsense, splice-site, and frameshift variants were considered the most ideal candidate variants. Additionally, non-synonymous missense variants predicted as being deleterious using in silico analysis tools were further considered.
RESULTS: The analysis of exome sequencing data resulted in the identification of rare mutations in two promising candidate genes (NOTCH2 and HERC2) in a family. Siblings with CPP exhibited two heterozygous missense mutations (p. Leu15Phe in NOTCH2 and p. Arg4081His in HERC2). Moreover, their parents without history of CPP had a missense variant in either NOTCH2 or HERC2.
CONCLUSIONS: We identified new candidate genes with potential roles in pubertal development. Digenic inheritance of the two genetic mutations associated with the Notch signaling pathway may have a synergistic effect resulting in CPP
Author Co-Citation Analysis (ACA): a powerful tool for representing implicit knowledge of scholar knowledge workers
No full textIn the last decade, knowledge has emerged as one of the most important and valuable organizational assets. Gradually this importance caused to emergence of new discipline entitled ―knowledge management‖. However one of the major challenges of knowledge management is conversion implicit or tacit knowledge to explicit knowledge. Thus Making knowledge visible so that it can be better accessed, discussed, valued or generally managed is a long-standing objective in knowledge management. Accordingly in this paper author co- citation analysis (ACA) will be proposed as an efficient technique of knowledge visualization in academia (Scholar knowledge workers)
Portfolio of recorded performances and exegesis: Messiaen’s musical language for the jazz pianist - an exploration through performance.
No full textMoving beyond Gunther Schuller’s Third Stream amalgamation of classical and jazz, this study explores whether the musical language of Olivier Messiaen can make a valid contribution to jazz piano performance. Initially, my project sought to answer such questions as: What elements of the musical language of Messiaen already exist in the jazz vocabulary? Am I able to extend this further? What are the timbral structures and pianistic effects within Messiaen’s musical language? What will be the most effective application of Messiaen’s musical language to jazz piano performance? Endeavouring to answer the final question led me to consider such aspects as whether the project should be limited to quoting Messiaen motifs, arranging Messiaen melodies, replacing jazz harmonic structures on standards with examples from Messiaen’s musical language or whether it would be better to approach the research conceptually. The work of Hubert Nuss provided encouraging reassurance that this was not an impossible task. In order to articulate this conception, the initial challenge was to decide how the classical and jazz worlds might meet in a ‘Messiaen’ technique. The approach adopted was similar to that used for undergraduate jazz study, namely, immersion in the piano scores and recordings of Messiaen’s music as well as by live performances. This was followed by the development and assessment of a contrived approach when specific techniques, such as tonal colourings or harmonic structures, were developed through prepared exercises and consciously included in my performance. It was then compared with an intuitive approach when no such precise parameters were established. This submission consists of CD recordings of two public recitals and an exegesis. It documents the development of this Messiaen technique and discusses its application in my performances. It also demonstrates the ways that Messiaen’s musical language can be used within jazz piano performance to provide a colour that distinguishes jazz piano performance in a competitive field.Thesis (M.Mus.) -- University of Adelaide, Elder Conservatorium of Music, 201
Spinal anaesthesia for brachytherapy for carcinoma of the cervix a comparison of two dose regimes of hypebaric bupivacaine
No full textIncludes abstract.Includes bibliographical references.The main purpose of the study was to help establish the best dose regimen of hyperbaric bupivacaine, when combined with intrathecal fentanyl, for spinal anaesthesia for brachytherapy for carcinoma of the cervix. This procedure is performed as a day case at Groote Schuur Hospital
Free books to download Cambridge IGCSE Mathematics Core and Extended Coursebook with CD-ROM (Cambridge International IGCSE)
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