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Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1
Hojka Gregorič Kumperščak, Danijela Krgović, Nadja Kokalj-Vokač, 2016, izvirni znanstveni članek

Opis: Chromosomal abnormalities involving 2q32q33 deletions are very rare and present with a specific phenotype. This case report describes a 37-year-old female patient with 2q32q33 microdeletion syndrome presenting with the characteristic features, but with the addition of secondary cognitive decline. Molecular karyotyping was performed on the patient and her parents. It revealed an 8.6 megabase deletion with the proximal breakpoint in the chromosome band 2q32.2 and the distal breakpoint in 2q33.1. The deletion encompassed 22 known genes, including the GLS, MYO1B, TMEFF2, PGAP1 and SATB2 genes. The observed deletion was confirmed using a paralogue ratio test. This case report provides further evidence that the SATB2 gene, together with GLS, MYO1B, TMEFF2 and possibly PGAP1, is a crucial gene in 2q32q33 microdeletion syndrome. The SATB2 gene seems to be crucial for the behavioural problems noted in our case, but deletion of the GLS, MYO1B and TMEFF2 genes presumably contributed to the more complex behavioural characteristics observed. Our patient is also, to our knowledge, the only patient with 2q32q33 microdeletion syndrome with secondary cognitive decline.
Ključne besede: 2q32q33 microdeletion syndrome, behavioural problems, secondary cognitive decline, developmental delay, SATB2 gene
Objavljeno: 13.07.2017; Ogledov: 548; Prenosov: 286
.pdf Celotno besedilo (411,05 KB)
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A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
Danijela Krgović, Ana Blatnik, Ante Burmas, Andreja Zagorac, Nadja Kokalj-Vokač, 2014, izvirni znanstveni članek

Opis: Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particular characteristics such as speech delay, cat-like cry and mental retardation, caused by distinct deletions of 5p. A varied clinical outcome was also observed in patients with Trisomy 5p. Duplications of 5p10-5p13.1 manifest themselves in a more severe phenotype, while trisomy of regions distal to 5p13 mainly causes mild and indistinct features. Combinations of a terminal deletion and inverted duplication of 5p are infrequent in literature. Consequences of these chromosomal rearrangements differ, depending on size of deletion and duplication in particular cases, although authors mainly describe the deletion as the cause of the observed clinical picture. Case presentation: Here we present a 5-month-old Slovenian girl, with de novo terminal deletion and inverted duplication of chromosome 5p. Our patient presents features of both CdC and Trisomy 5. The most prominent features observed in our patient are a cat-like cry and severe malformations of the right ear. Conclusion: The cat-like cry, characteristic of CdC syndrome, is noted in our patient despite the fact that the deletion is not fully consistent with previously defined cat-like cry critical region in this syndrome. Features like dolichocephaly, macrocephaly and ear malformations, associated with duplication of the critical region of Trisomy 5p, are also present, although this region has not been rearranged in our case. Therefore, the true meaning of the described chromosomal rearrangements is discussed.
Ključne besede: deletion with inverted duplication of 5p, trisomy 5, cri-du-chat syndrome, cat-like cry, ear agenesis
Objavljeno: 28.06.2017; Ogledov: 888; Prenosov: 320
.pdf Celotno besedilo (1,07 MB)
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Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities
Darija Strah, Petra Ovniček, Janez Bernik, 2015, izvirni znanstveni članek

Opis: Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT) is based on the analysis of cell-free fetal DNA from maternal blood. It rep- resents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years. Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing. Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome) were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 %) and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %). In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 %) and sensitivity (95 % confidence interval: 31.00 %–100.00 %) turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %). Conclusions: Our results confirm that NIPT rep- resents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal loss caused by invasive diagnostics.
Ključne besede: non-invasive prenatal DNA testing, chromosomal abnormalities, Down syndrome, pregnancy, fetal DNA
Objavljeno: 10.05.2017; Ogledov: 958; Prenosov: 288
.pdf Celotno besedilo (140,48 KB)
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Early predictors of 30-day mortality in non-ST-elevation acute coronary syndrome patients
Suzana Rožič, Melanija Županić, Andreja Sinkovič, 2008, izvirni znanstveni članek

Opis: Background: The incidence of non-ST-elevation acute coronary syndrome (ACS), including unstable angina pectoris and non-ST-elevation myocardial infarction (MI), is increasing in comparison to ST-elevation ACS. Our aim was to evaluate predictive role of admission variables for 30-day mortality in non-ST-elevation ACS patients. Patients and methods: We retrospectively analysed the data of 415 patients, admitted to University Clinical Center Maribor in 2006 due to non-ST-elevation ACS. Inclusion criteria were rest chest pain, ECG changes (ST-segment depression > or = 0.1 mV, and/or negative T wave > or = 0.1 mV and/or pathologic Q and/or non-specific ECG) and/or increased troponin T levels. Predictors of 30-day mortality were analysed by univariate and multivariate logistic regression. Results: 30-day mortality was 4.3 %. Between nonsurvivors and survivors there were significant differences in mean age, the incidence of arterial hypertension, positive family history of coronary artery disease, in mean admission systolic and diastolic blood pressure, pulse, mean admission troponin T, leukocyte count, CRP, creatinine and the incidence of admission heart failure. Multivariate logistic regression proved that most significant independent early predictor of 30-day mortality was admission heart failure (OR 41.21, 95 % CI 3.50 to 484.66, p = 0.003), followed by admission serum creatinine (OR 0.989, 95 % CI 0.981 to 0.997, p = 0.008) and troponin T (OR 0.263, 95 % CI 0.080 to 0.861). Conclusion: Most significant independent predictor of 30-day mortality of patients with non-ST-elevation ACS, being 4.5 %, was heart failure on admission.
Ključne besede: mortality, non-ST-elevation acute coronary syndrome, predictors
Objavljeno: 27.03.2017; Ogledov: 694; Prenosov: 67
.pdf Celotno besedilo (111,63 KB)
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