ORTHOGRAPHIC ERRORS IN THE INTERLANGUAGE OF SERBOPHONE STUDENTS LEARNING TYPOLOGICALLY CLOSELY RELATED LANGUAGES (ITALIAN AS L2 AND SPANISH AS L3)

The studies that analyze the interlanguage of plurilingual speakers have been the focus of linguists’ interest for the past three decades, since empirical researches have proved that both students’ mother tongue and non-mother tongue can be a resource for transfer when learning a new language. The paper analyzes orthographic errors made by Serbophone students of philology who study two typologically similar languages - Italian and Spanish, which arose as a result of a negative transfer from one language to another. The presented errors prove that the negative transfer is stronger in typologically closely related languages than in those that are not, regardless of the order of acquisition (De Bot, 1992; Williams & Hammarberg, 1998; Jarvis, 2000; De Angelis & Selinker, 2001; Cenoz, 2001; Ecke, 2001; Hammarberg, 2001; Ringbom, 2001). Due to the factors of language distance and psychotypology that influenced the appearance of transfers, it has been proved that interlinguistic similarities are the ones that caused the largest number of errors (Swan, 1997) and the appearance of negative lateral transfer, i.e. negative transfer from the second to the third language. The errors did not occur exclusively due to ignorance of the rules of the Spanish language, but they were caused by the influence that the knowledge of the previously acquired Italian had on learning Spanish. Thus, most of the errors were interlingual. Many errors identified in the corpus would not have been made by students who had previously learned another foreign language typologically distant from Spanish. As the largest number of orthographic errors was identified in words that are the same or similar in Italian and Spanish, the claim of many linguists (Williams & Hammarberg, 1998; Cenoz, 2001; De Angelis & Selinker, 2001; Ecke, 2001; Hammarberg, 2001; Ringbom, 2001) that the typological similarity between L2 and L3 facilitates language transfer has been proved. Thus, when studying transfer, one should pay attention not only to the influence of the mother tongue on the target language, but also to the influence of L2 on the target language, especially in the case when L2 is typologically closest to the L3.Publishe

Differential regulation of autophagy in skeletal muscles in septic mice

Severe sepsis is a systemic inflammatory response to an infection. During the course of severe sepsis, mitochondrial injury and dysfunction develop in the skeletal muscle. Severe sepsis is associated with upregulation of proteolytic pathways such as the ubiquitin proteasome pathways and the autophagy-lysosomal pathway. Although autophagy is a protective mechanism under normal conditions, excessive autophagy in the skeletal muscle is detrimental for the economy of the body. We hypothesize that sepsis triggers significant and sustained induction of autophagy in the ventilatory and limb muscles and that excessive autophagy causes muscle dysfunction in sepsis. We studied a murine model of sepsis by performing cecal ligation and perforation (CLP). Induction of sepsis elicited significant muscle fiber atrophy in both the diaphragm (DIA) and tibialis anterior (TA) after 24h but only persisted in the TA after 48h of sepsis. This was demonstrated by a decrease in fiber cross-sectional area, which was associated with a decline in contractile performance. Sepsis induced proteasome activity and triggered significant upregulation of mRNA and protein expression of various autophagy-related proteins and E3 ligases in both muscles 24h and 48h after induction. These results suggest that autophagy is significantly induced in the respiratory and limb muscles of mice early in the course of sepsis, with the degree of sepsis-induced activation of the autophagy and proteasome proteolytic systems being relatively stronger in the TA than in the DIA. The CLP model of sepsis triggers significant and sustained increases of autophagy in the diaphragm and limb muscles. Autophagy may be excessive and lead to impairment of skeletal muscle contractile function in sepsis.La septicémie est une réponse inflammatoire systémique due à une infection. Au cours de la septicémie sévère, une lésion et un dysfonctionnement de la mitochondrie se développent dans le muscle squelettique. La septicémie sévère est associée à une régulation positive des voies protéolytiques telles que les voies du protéasome/ubiquitine et la voie de l'autophagie-lysosomale. Bien que l'autophagie soit un mécanisme de protection dans des conditions normales, l'autophagie excessive dans le muscle squelettique est préjudiciable au maintient du corps. Nous émettons l'hypothèse que la septicémie déclenche une induction significative et soutenue de l'autophagie dans les muscles ventilatoires et les muscles des membres et que cette autophagie excessive provoque un dysfonctionnement musculaire lors de la septicémie. Nous avons étudié un modèle murin de septicémie en effectuant la ligatur et la perforation du caecum (CLP). L'induction de la septicémie a provoquée une importante atrophie des fibres musculaires à la fois dans le diaphragme (DIA) et le muscle tibial antérieur (TA) après 24h et persiste dans le TA après 48h de septicémie. Cela a été démontré par une diminution de l'aire des sections transversales des fibres musculaires, qui a été associée à une baisse de la performance contractile. La septicémie induit l'activité du protéasome et déclenche une régulation positive significative de l'ARNm et l'expression protéiques de diverses protéines liées autophagie et aux ligases E3 et ce dans les deux muscles 24h et 48h après l'induction. Ces résultats suggèrent que l'autophagie est induite de manière significative dans les muscles des voies respiratoires et des membres de souris et ce de manière précoce lors de la septicémie, avec un degré d'activation des systèmes protéolytiques du protéasome et de l'autophagie étant relativement plus forte dans la TA par rapport au DIA.Le modèle CLP de septicémie déclenche une augmentations significative et durables de l'autophagie dans le diaphragme et les muscles des membres. L'autophagie peut être excessive et entraîner des troubles de la fonction contractile du muscle squelettique lors de la septicémie

Genetska etiologija prijevremene insuficijencije jajnika

Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. The process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specific genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function. A positive family history of PPOI is found in 15% of women with PPOI, indicating the existing genetic etiology. Primary POI comprises genetic aberrations linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome. Secondary POI implies surgical removal of ovaries, chemotherapy and radiotherapy, and infections. Diagnostic criteria include follicle stimulating hormone level >40 IU/L and estradiol level <50 pmol/L.Primarna prijevremena insufi cijencija jajnika (PPIJ) je sindrom koji je obilježen hipergonadotropnom amenorejom i hipoestrogenizmom. Incidencija PPIJ je 1:10.000 kod žena starosti 18-25 godina, 1:1000 kod žena starosti 25-30 godina i 1:100 kod žena starosti 35-40 godina. U 10%-28% slučajeva PPIJ je uzrok primarnih, a u 4%-18% sekundarnih amenoreja. Bolest nastaje kao posljedica ubrzanog procesa atrezije oocita, smanjenja broja germinativnih stanica i starenja središnjeg živčanog sustava. Specifi čni geni su odgovorni za kontrolu broja oocita koji prolaze proces ovulacije i vrijeme prekida repro- duktivne funkcije. Pozitivna obiteljska anamneza PPIJ nađena je u oko 15% žena s PPIJ, što ukazuje na postojanje određene genetske etiologije. Primarna insufi cijencija jajnika (PIJ) dijeli se na primarnu i sekundarnu. U primarnu PIJ spadaju genetske aberacije vezane za kromosom X (monosomije, trisomije, translokacije, delecije) ili one vezane za autosomne kromosome. U sekundarnu PIJ spadaju kirurško odstranjenje jajnika, liječenje kemoterapijom i radioterapijom te infekcije. Simptomi su razdražljivost, nemir, gubitak libida, depresija, nesanica, dekoncentracija, napadaji vrućine, povišenje tjelesne težine, suhoća vagine i drugih sluznica. Kriteriji za dijagnozu su folikulostimulirajući hormon viši od 40 IJ/L i estradiol (E2) niži od 50 pmol/L kod žena mlađih od 40 godina

Multilevel regression modeling for aneuploidy classification and physical separation of maternal cell contamination facilitates the QF-PCR based analysis of common fetal aneuploidies.

BackgroundThe quantitative fluorescent polymerase chain reaction (QF-PCR) has proven to be a reliable method for detection of common fetal chromosomal aneuploidies. However, there are some technical shortcomings, such as uncertainty of aneuploidy determination when the short tandem repeats (STR) height ratio is unusual due to a large size difference between alleles or failure due to the presence of maternal cell contamination (MCC). The aim of our study is to facilitate the implementation of the QF-PCR as a rapid diagnostic test for common fetal aneuploidies.MethodsHere, we describe an in-house one-tube multiplex QF-PCR method including 20 PCR markers (15 STR markers and 5 fixed size) for rapid prenatal diagnosis of chromosome 13, 18, 21, X and Y aneuploidies. In order to improve the aneuploidy classification of a given diallelic STR marker, we have employed a multilevel logistic regression analysis using "height-ratio" and "allele-size-difference" as fixed effects and "marker" as a random effect. We employed two regression models, one for the 2:1 height ratio (n = 48 genotypes) and another for the 1:2 height ratio (n = 41 genotypes) of the trisomic diallelic markers while using the same 9015 genotypes with normal 1:1 height ratio in both models. Furthermore, we have described a simple procedure for the treatment of the MCC, prior DNA isolation and QF-PCR analysis.ResultsFor both models, we have achieved 100% specificity for the marker aneuploidy classification as compared to 98.60% (2:1 ratio) and 98.04% (1:2 ratio) specificity when using only the height ratio for classification. Treatment of the MCC enables a successful diagnosis rate of 76% among truly contaminated amniotic fluids.ConclusionsAdjustment for the allele size difference and marker type improves the STR aneuploidy classification, which, complemented with appropriate treatment of contaminated amniotic fluids, eliminates sample re-testing and reinforces the robustness of the QF-PCR method for prenatal testing