Preliminary Phonological Analysis of Denjongka of Sikkim

This thesis is a preliminary phonological description of the Tibetan-related Denjongka language of Sikkim, India. Because the language has not been much researched and the previous studies have focused on other issues than phonology, the present paper is the first of its kind. The data for this thesis was gathered in Gangtok, the capital of Sikkim, from March to May 2004. I had four language informants from four different locations in Sikkim who spoke different dialects of Denjongka. One of the informants, from whom I recorded c. 900 words and 530 sentences, was used as the main data source for the analysis. First, I will give some ethnographic background information on the people who speak Denjongka. Next, I will discuss first the segmental and then the suprasegmental phonology of the language, which were analysed much in line with American structuralism. I also used acoustic analysis enabled by the Praat-program. Eight vowel phonemes were found. The phonemic status of /E/, however, is still suspect. I present some preliminary evidence for roundedness, frontness and height assimilation among the vowels. In the interpretation adopted in this analysis, there are no diphthongs in Denjongka. Forty consonant phonemes were found: 17 plosives, 7 affricates, 5 fricatives, 5 nasals, 4 liquids and 2 approximants. Denjongka plosives and affricates have four-way aspiration/voicing distinction: voiceless aspirated, voiceless unaspirated, voiceless slightly aspirated (devoiced), and voiced unaspirated. Two voiceless nasals and two voiceless liquids were found. Two phonation types were found to be contrastive, lax/breathy and tense/creaky. Nasalisation and length in vowels are phonemic. Denjongka is an incipient tone language. Tonal phenomena, which involve mainly pitch and phonation type, are complex. Pitch is most of the time predictable from the initial consonant and the phonation type. In some cases, however, pitch is the only contrastive feature between words. The description of Denjongka in this paper differs from the traditional four-tone system, which has been used in many descriptions of Tibetan-related languages. In the four-tone system, pitch is contrastive both in the high and low register, whereas in the present analysis pitch has been established to contrast only in the high register. Lastly, the appendices include a comparative word list of the four Denjongka dialects studied in this thesis.

Genetic Mechanisms of Tumourigenesis in von Hippel-Lindau-Associated Tumours with the Emphasis on Capillary Hemangioblastoma

The von Hippel-lindau (VHL) disease is a dominantly inherited neoplastic disorder which predisposes patients to multiple tumours including capillary haemangioblastomas (CHBs), pheochromocytomas (PCCs), renal cell carcinomas (RCCs). CHBs are the most common manifestations of VHL disease, occurring sporadically or as a manifestation of VHL disease. Inactivation of the VHL gene at 3p25-26 is believed to cause both familial and sporadic VHL-associated tumours and germ-line mutation of the VHL gene have been detected in 100% of the CHBs studied. However, a limited number of sporadic CHBs, PCCs display VHL inactivation. Other molecular alterations involved in tumourigenesis of sporadic CHBs, PCCs remain largely unknown. The purpose of the present work was to search for genetic alterations, or other mechanisms of inactivation, in addition to the VHL gene, that may be important in the development of VHL-associated tumours. Though less satisfactory than cure, prevention and early detection are the most promising and feasible means reducing cancer morbidity and mortality. This work is based on the view that increasing knowledge about the molecular events underlying tumour development will eventually aid in early detection and lead to improved treatment. We evaluated a large set of VHL-associated patients, searched for a clinical and radiologic signs of the disease. We succesfully performed a germ-line mutation analysis and characterised three patient groups, VHL, suspect VHL and sporadic, a germ-line mutation analysis revealed a 50% mutation rate only in the VHL groups, no sporadic or suspect cases displayed any mutation. We also utilized comparative genomic hybridization (CGH) to screen for DNA copy number changes in both sporadic and VHL-associated CHB. Our analysis revealed (27%) DNA copy number losses. The most common finding was loss of chromosomal arm 6q, seen in (23%) cases, No differences were noted between VHL-associated and sporadic tumours. Furthermore a loss of heterozygosity (LOH) study on chromosome 3p and 6q was done with the purpose to determine allele losses not observable by CGH, and to uncover the location of putative tumour suppressor genes important in CHB and PCC tumourigenesis. We identified loss of chromosome 6q and a minimal deleted area at 6q23-24 in CHBs. We also showed LOH at 6q23-24 in PCCs and identified the ZAC1 (6q24-25) as a candidate gene, ZAC1 is a maternally imprinted tumour suppressor gene with anti proliferative properties. To study further the role of ZAC inactivation in CHBs, we investigated LOH, promoter hypermethylation and expression status of the ZAC1 gene in mainly sporadic CHBs. Our LOH analysis revealed that the majority of the tumours with allele loss. The gene promoter methylation analysis similarly detected predominance of the methylated ZAC sequence in almost all tumours. Immunohistochemistry exhibited a strongly reduced expression of ZAC in stromal cells of all CHBs studied. Our current results indicate that the absence of the unmethylated, ZAC1 promoter sequence was highly concurrent with LOH for the ZAC1 region or 6q loss. This observation together with lack of ZAC expression, points to preferential loss of the non imprinted, expressed ZAC allele in CHB, in summary, our series of studies reveal a new chromosomal region 6q, emphasizes the importance of ZAC1 gene in the development of CHB and PCC, particularly in non-VHL associated cases.

Suomi toisena kielenä vai lukivaikeus? : Luokanopettajien käsityksiä oppilaiden kielellisistä vaikeuksista

Goals. Immigrant pupils are over-represented in special education. Linguistic difficulties are the most pivotal reasons for social exclusion of immigrant pupils during their school career. Addedly reading, writing, and language development disorders are the most common reasons for both part-time and extensive special education. I studied class teachers' perceptions of the typical linguistic difficulties of pupils who speak Finnish as their second language and of those who have dyslexia, because I suspect that telling the difference between linguistic competency in progress and the symptoms of dyslexia isn't easy. I look for overlappings in the perceptions of linguistic difficulties, their causes and their support measures, which would reveal the challenges in recognizing linguistic difficulties, which in turn might partly explain why immigrant pupils are over-represented in special education. Methods. This study was carried out as structured individual interviews with nine class teachers from the Helsinki Metropolitan Area. To increase reliability, complementary information was gathered about the same phenomenon with a questionnaire that each interviewee filled out at the end of the interview. It was required that the interviewees have experience of teaching both dyslexic pupils and pupils who speak Finnish as a second language. The material analysis was mainly deductive, but the material that wasn't in line with the theoretical frame of reference was analyzed inductively. Results and conclusions. There were overlappings in the class teachers' perceptions of the linguistic difficulties, support measures fitting them and, based on the questionnaire results, also of the causes of these difficulties. Additionally all the interviewees said it to be difficult to recognize dyslexia in a pupil who speaks Finnish as a second language. I came to the conclusion that distinguishing different linguistic difficulties from one another is a challenge to which class teachers don't always feel competent to rise, which is why they consider the assistance of special teachers and other professionals beneficial.