Da bi pravočasno odkrili zasevke kožnega melanoma (KM), na Onkološkem inštitutu Ljubljana uporabljamo določanje serumske ravni tumorskega označevalca S100B. Če je raven zvišana, nadaljujemo s ...slikovnimi preiskavami, v zadnjih letih predvsem s PET-CT. S svojo raziskavo smo skušali pokazati, kako učinkovito je odkrivanje napredovale bolezni z določanjem serumskega S100 B in s PET-CT med rednim sledenjem bolnikov, ki imajo KM. Med septembrom 2007 in februarjem 2010 smo na PET-CT napotili 115 bolnikov s KM. Med njimi je bilo 82 (71,3 %) bolnikov s kliničnimi znaki bolezni in 33 (28,7 %) asimptomatskih bolnikov z 2 povečanima vrednostma serumskega S100 B. Z uveljavljenimi metodami smo izračunali občutljivost, specifičnost ter pozitivno in negativno napovedno vrednost (PNV, NNV) določanja S100 B in PET-CT. Zasevke smo odkrili pri 81,7 % bolnikov. Občutljivost, specifičnost, PNV in NNV S100 B so bili 33,8 %, 90,9 %, 96 % in 17,5 % pri bolnikih s kliničnimi znaki bolezni. Pri 20 % bolnikov so bile povečane serumske vrednosti S100 B edini znanilec zasevkov KM. Občutljivost in PNV S100 B v tej skupini bolnikov sta bila 100 % in 69,7 %. S PET-CT smo napredovalo bolezen potrdili pri 84,2 % bolnikov, ki so imeli klinično sliko napredovale bolezni, ter pri 72,7 % asimptomatskih bolnikov s povečanimi vrednostmi S100 B. Občutljivost, specifičnost, PNV in NNV PET-CT za bolnike s klinično sliko so bili 98,5 %, 90,9 %, 98,5 %, 90,9 % ter 100 %, 90 %, 95,8 % in 100 % pri asimptomatskih bolnikih s povečanimi vrednostmi S100 B. Redno spremljanje serumskega S100 B pri bolnikih s KM omogoča odkritje napredovale bolezni pri asimptomatskih bolnikih. Uspešnost metode je večja, če bolnike napotimo na PET-CT, kadar imajo povečane vrednosti S100 B.
Two high-risk genes have been implicated in the development of CM (cutaneous melanoma). Germline mutations of the CDKN2A gene are found in < 25% of melanoma-prone families and there are only seven ...families with mutation of the CDK4 gene reported to date. Beside those high penetrance genes, certain allelic variants of the MC1R gene modify the risk of developing the disease.
to determine the prevalence of germline CDKN2A mutations and variants in members of families with familial CM and in patients with multiple primary CM; to search for possible CDK4 mutations, and to determine the frequency of variations in the MC1R gene.
From January 2001 until January 2007, 64 individuals were included in the study. The group included 28 patients and 7 healthy relatives belonging to 25 families, 26 patients with multiple primary tumors and 3 children with CM. Additionally 54 healthy individuals were included as a control group. Mutations and variants of the melanoma susceptibility genes were identified by direct sequencing.
Seven families with CDKN2A mutations were discovered (7/25 or 28.0%). The L94Q mutation found in one family had not been previously reported in other populations. The D84N variant, with possible biological impact, was discovered in the case of patient without family history but with multiple primary CM. Only one mutation carrier was found in the control group. Further analysis revealed that c.540C>T heterozygous carriers were more common in the group of CM patients and their healthy relatives (11/64 vs. 2/54). One p14ARF variant was discovered in the control group and no mutations of the CDK4 gene were found. Most frequently found variants of the MC1R gene were T314T, V60L, V92M, R151C, R160W and R163Q with frequencies slightly higher in the group of patients and their relatives than in the group of controls, but the difference was statistically insignificant.
The present study has shown high prevalence of p16INK4A mutations in Slovenian population of familial melanoma patients (37%) and an absence of p14ARF or CDK4 mutations.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Abstract This study is focused on lexical cross-linguistic influences in Spanish third language (L3) acquisition. Participants are learners with Croatian first language (L1) and English second ...language (L2). The study investigates the relationship between L3 proficiency and types of lexical errors. Our hypotheses are focused on two main points: type of language transfer can be related to formal similarity of certain features or language components and to L2 proficiency as well and therefore English L2 will be the main source in both - transfer of form and transfer of meaning and the type of lexical errors is changed with the higher level of proficiency. Calques are more frequent, and code-switching is reduced (Celaya, 2006, 2008). There were 50 participants in this research and all of them are second and third year students of the American College of Management and Technology. Our hypotheses were confirmed on the basis of the error analysis in the compositions of the second and third year students. Key words: Calques; formal similarity; transfer of form; transfer of meaning Međujezični utjecaji između španjolskog J3, engleskog J2 i hrvatskog J1 te veze između jezičnog umijeća i vrste leksičkih pogrešaka Sažetak U središtu pozornosti ovog istraživanja su leksički međujezični utjecaji prilikom usvajanja španjolskog jezika kao trećeg stranog jezika kod učenika kojima je hrvatski jezik prvi/ materinski jezik, a engleski drugi jezik. U ovom radu smo također proučavali veze između jezičnog umijeća u trećem jeziku i vrste leksičkih pogrešaka. Cilj našeg istraživanja je istražiti hrvatske i engleske međujezične utjecaje, a naše pretpostavke su usmjerene na dvije glavne točke: vrsta promatranog jezičnog prijenosa može biti povezana s formalnom sličnosti između određenih značajki ili komponenti jezika te će tako engleski jezik kao J2 biti preferirani izvor leksičkoga prijenosa te da se proizvodnja kalkova povećava kako učenici postaju kompetentniji u trećem jeziku. Istraživanje je provedeno na uzorku od 50 ispitanika. Svi ispitanici su studenti druge i treće godine na Američkoj visokoj školi za menadžment i tehnologiju. Metodom analize pogrešaka analizirani su završni pismeni radovi te potvrđene naše pretpostavke. Ključne riječi: formalna sličnost; kalkovi; prijenos forme; prijenos značenja
Two prospective randomized studies analysing cutaneous melanoma (CM) patients with sentinel lymph node (SLN) metastases and rapid development of systemic adjuvant therapy have changed our approach to ...stage III CM treatment. The aim of this study was to compare results of retrospective survival analysis of stage III CM patients' treatment from Slovenian national CM register to leading international clinical guidelines.
Since 2000, all Slovenian CM patients with primary tumour ≥ TIb are treated at the Institute of Oncology Ljubljana and data are prospectively collected into a national CM registry. A retrospective analysis of 2426 sentinel lymph node (SLN) biopsies and 789 lymphadenectomies performed until 2015 was conducted using Kaplan-Meier survival curves and log-rank tests.
Positive SLN was found in 519/2426 (21.4%) of patients and completion dissection (CLND) was performed in 455 patients. The 5-year overall survival (OS) of CLND group was 58%
. 47% of metachronous metastases group (MLNM) (p = 0.003). The 5-year OS of patients with lymph node (LN) metastases and unknown primary site (UPM) was 45%
. 21% of patients with synchronous LN metastasis. Patients with SLN tumour burden < 0.3 mm had 5-year OS similar to SLN negative patients (86%
. 85%; p = 0.926). The 5-year OS of patients with burden > 1.0 mm was similar to the MLNM group (49%
. 47%; p = 0.280).
Stage III melanoma patients is a heterogeneous group with significant OS differences. CLND after positive SLNB might still remain a method of treatment for selected patients with stage III.
To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families.
From January 2001 till the end of 2003 we prospectively screened ...19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history.
Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS - 1g>a). No mutations could be detected in 3 children.
The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The population of elderly people is increasing and so is the population of breast cancer patients aged ≥80 years. The aim of our retrospective study was to identify independent prognostic factors for ...the duration of breast cancer-specific survival of surgically treated patients aged ≥80 years. The secondary aim was to determine the appropriate surgical treatment of breast cancer in patients aged ≥80 years.
We reviewed the medical records of 154 patients aged ≥80 years with early-stage breast cancer (mean age 83 years) who underwent surgery at the tertiary cancer center in the period from 2000 to 2008. Tumor stage was pT1/pT2 and pT3/pT4 in 75% and 25%, respectively. Surgical treatment comprised: quadrantectomy (in 27%), mastectomy (in 73%), axillary dissection (in 57%), and sentinel lymph node biopsy (in 18%), while 25% of patients had no axillary surgery.
During a median follow-up of 5.3 years, 31% of patients died of breast cancer, while 28% of patients died of other causes. Half of our patients with poorly differentiated breast cancer or estrogen receptor-negative tumor died of breast cancer. Multivariate statistical analysis showed that the pathological T-stage, pathological N-stage and estrogen receptors were independent prognostic factors for the duration of breast cancer-specific survival of patients.
Short breast cancer-specific survival indicates that, in patients aged ≥80 years, breast cancer with metastases in axillary lymph nodes can be an aggressive disease.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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