Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1Hojka 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: 79; Prenosov: 3
Celotno besedilo (411,05 KB)
Increased augmentation index and central systolic arterial pressure are associated with lower school and motor performance in young adolescentsBernarda Vogrin
, Marjan Rupnik
, Dušanka Mičetić-Turk
, 2017, izvirni znanstveni članek
Opis: Objective: In adults, improper arterial function has been linked to cognitive impairment. The pulse wave velocity (PWV), augmentation index (AIx) and other vascular parameters are useful indicators of arterial health. In our study, we monitored arterial properties, body constitution, school success, and motor skills in young adolescents. We hypothesize that reduced cognitive and motor abilities have a vascular origin in children.
Methods: We analysed 81 healthy school children aged 11-16 years. Anthropometry central systolic arterial pressure, body mass index (BMI), standard deviation scores (SDS) BMI, general school performance grade, and eight motor tests were assessed. PWV, AIx, and central systolic arterial pressure (SBPao) were measured.
Results: AIx and SBPao correlated negatively with school performance grades. Extremely high AIx, PWVand SBPao values were observed in 5% of children and these children had average to low school performance. PWV correlated significantly with weight, height, and waist and hip circumference. AIx, PWV, school success, and BMI correlated strongly with certain motor functions.
Conclusions: Increased AIx and SBPao are associated with lower school and motor performance in children. PWV is influenced by the body's constitution.
Ključne besede: augmentation index, pulse wave velocity, school success, motor functions, young adolescents, central systolic arterial pressure, body mass index
Objavljeno: 13.07.2017; Ogledov: 95; Prenosov: 3
Celotno besedilo (160,29 KB)
Social isolation during puberty affects female sexual behavior in miceJasmina Kerčmar
, Stuart Tobet
, Gregor Majdič
, 2014, izvirni znanstveni članek
Opis: Exposure to stress during puberty can lead to long-term behavioral alterations in adult rodents coincident with sex steroid hormone-dependent brain remodeling and reorganization. Social isolation is a stress for social animals like mice, but little is known about the effects of such stress during adolescence on later reproductive behaviors. The present study examined sexual behavior of ovariectomized, estradiol and progesterone primed female mice that were individually housed from 25 days of age until testing at approximately 95 days, or individually housed from day 25 until day 60 (during puberty), followed by housing in social groups. Mice in these isolated groups were compared to females that were group housed throughout the experiment. Receptive sexual behaviors of females and behaviors of stimulus males were recorded. Females housed in social groups displayed greater levels of receptive behaviors in comparison to both socially isolated groups. Namely, social females had higher lordosis quotients (LQs) and more often displayed stronger lordosis postures in comparison to isolated females. No differences between female groups were observed in stimulus male sexual behavior suggesting that female “attractiveness” was not affected by their social isolation. Females housed in social groups had fewer cells containing immunoreactive estrogen receptor (ER) α in the anteroventral periventricular nucleus (AVPV) and in the ventromedial nucleus of the hypothalamus (VMH) than both isolated groups. These results suggest that isolation during adolescence affects female sexual behavior and re-socialization for 1 month in adulthood is insufficient to rescue lordosis behavior from the effects of social isolation during the pubertal period.
Ključne besede: mice, social isolation, female sexual behavior, estrogen receptor α, puberty, adolescence
Objavljeno: 10.07.2017; Ogledov: 114; Prenosov: 5
Celotno besedilo (944,61 KB)
Haploinsufficiency for steroidogenic factor 1 affects maternal behavior in miceTanja Španić
, Neža Grgurevič
, Gregor Majdič
, 2016, izvirni znanstveni članek
Opis: Steroidogenic factor 1 (SF-1), officially designated NR5A1, is essential for gonadal and adrenal development and for the normal structure of the ventromedial hypothalamus (VMH), as demonstrated by SF-1 knockout mice (SF-1 KO), but much less is known about the possible effects of haploinsufficiency of the SF-1 gene. In the present study, maternal behavior in SF-1 KO heterozygous mice was evaluated. Behavioral tests revealed that SF-1 KO heterozygous females have impaired maternal behavior. In comparison to wild-type (WT) females, SF-1 KO heterozygous females retrieved significantly fewer pups into their nests, latency to retrieve and crouch over the pups was longer, and their nests were lower quality. As suggested by previous studies full dosage of SF-1 gene is needed for appropriate stress response and expression of brain-derived neurotrophic factor (BDNF) in the brain, and this might present a mechanism through which maternal behavior in SF-1 KO heterozygous females is impaired.
Ključne besede: mice, stress, steroidogenic factor 1, maternal behavior
Objavljeno: 10.07.2017; Ogledov: 90; Prenosov: 3
Celotno besedilo (477,98 KB)
Identification of risk factors influencing Clostridium difficile prevalence in middle-size dairy farmsPetra Bandelj
, Rok Blagus
, France Briški
, Olga Frlic
, Aleksandra Vergles-Rataj
, Maja Rupnik
, Matjaž Ocepek
, Modest Vengušt
, 2016, izvirni znanstveni članek
Opis: Farm animals have been suggested to play an important role in the epidemiology of Clostridium difficile infection (CDI) in the community. The purpose of this study was to evaluate risk factors associated with C. difficile dissemination in family dairy farms, which are the most common farming model in the European Union. Environmental samples and fecal samples from cows and calves were collected repeatedly over a 1 year period on 20 mid-size family dairy farms. Clostridium difficile was detected in cattle feces on all farms using qPCR. The average prevalence between farms was 10% (0-44.4%) and 35.7% (3.7-66.7%) in cows and calves, respectively. Bacterial culture yielded 103 C. difficile isolates from cattle and 61 from the environment. Most C. difficile isolates were PCR-ribotype 033. A univariate mixed effect model analysis of risk factors associated dietary changes with increasing C. difficile prevalence in cows (P = 0.0004); and dietary changes (P = 0.004), breeding Simmental cattle (P = 0.001), mastitis (P = 0.003) and antibiotic treatment (P = 0.003) in calves. Multivariate analysis of risk factors found that dietary changes in cows (P = 0.0001) and calves (P = 0.002) increase C. difficile prevalence; mastitis was identified as a risk factor in calves (P = 0.001). This study shows that C. difficile is common on dairy farms and that shedding is more influenced by farm management than environmental factors. Based on molecular typing of C. difficile isolates, it could also be concluded that family dairy farms are currently not contributing to increased CDI incidence.
Ključne besede: farm animals, clostridium difficile infection (CDI), dairy farms
Objavljeno: 29.06.2017; Ogledov: 118; Prenosov: 2
Celotno besedilo (1,10 MB)
Factors impacting on the activation and approach times of helicopter emergency medical services in four Alpine countriesIztok Tomazin
, Miljana Vegnuti
, John Ellerton
, Oliver Reisten
, Guenther Sumann
, Janko Kersnik
, 2012, izvirni znanstveni članek
Opis: Background: The outcome of severely injured or ill patients can be time dependent. Short activation and approach times for emergency medical service (EMS) units are widely recognized to be important quality indicators. The use of a helicopter emergency medical service (HEMS) can significantly shorten rescue missions especially in mountainous areas. We aimed to analyze the HEMS characteristics that influence the activation and approach times.
Methods: In a multi-centre retrospective study, we analyzed 6121 rescue missions from nineHEMS bases situated in mountainous regions of four European countries.
Results: We found large differences in mean activation and approach times among HEMS bases. The shortest mean activation time was 2.9 minutes; the longest 17.0 minutes. The shortest mean approach time was 10.4 minutes; the longest 45.0 minutes. Short times are linked (p < 0.001) to the following conditions: helicopter operator is not state owned; HEMS is integrated in EMS; all crew members are at the same location; doctors come from state or private health institutions; organization performing HEMS is privately owned; helicopters are only for HEMS; operation area is around 10.000 km2; HEMS activation is by a dispatching centre of regional government who is in charge of making decisions; there is only one intermediator in the emergency call; helicopter is equipped with hoist or fixed line; HEMS has more than one base with helicopters, and one team per base; closest neighboring base is 90 km away; HEMS is about 20 years old and has more than 650 missions per year; and modern helicopters are used.
Conclusions: An improvement in HEMS activation and approach times is possible. We found 17 factors associated with shorter times.
Ključne besede: emergency medical services, air ambulances, emergency helicopters, quality of health care, activation and approach time
Objavljeno: 29.06.2017; Ogledov: 151; Prenosov: 2
Celotno besedilo (1,22 MB)
Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case reportDanijela Krgović
, Nataša Marčun-Varda
, Andreja Zagorac
, Nadja Kokalj-Vokač
, 2011, izvirni znanstveni članek
Opis: Background: Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed.
Results: Here we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. A contrary array-CGH analysis indicated a small deletion of 11q22.3.
Discussion: To our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described.
Ključne besede: 11q22.3 deletion, mild mental retardation, facial dysmorphism
Objavljeno: 29.06.2017; Ogledov: 129; Prenosov: 2
Celotno besedilo (766,41 KB)
An evaluation of SOX2 and hTERC gene amplifications as screening markers in oral and oropharyngeal squamous cell carcinomasNadja Kokalj-Vokač
, Bogdan Čizmarevič
, Andreja Zagorac
, Boris Zagradišnik
, Boštjan Lanišnik
, izvirni znanstveni članek
Opis: Background: Oral and oropharyngeal squamous cell carcinomas (OSCC) are among the most common cancers. The poor survival rate among oral cancer patients can be attributed to several factors, one of them being lack of early detection. A key approach to this problem would be to detect potentially malignant lesion at their early stage. Using the FISH technique, oral brush cytology slides can be an easy and rapid screening approach for malignant cell detection. The present study was designed to detect hTERC and SOX2 amplifications in OSSC exfoliative tumor cells and evaluate whether those two gene amplifications might serve as a supportive biomarker in early detection and diagnosis of oral and oropharyngeal SCC.
Results: Brush biopsies were collected from exophytic and exulcerated oral and oropharyngeal lesions of the oral cavity of 71 patients and 22 healthy controls. FISH techniques using a TERC-specific DNA probe and a SOX2 DNA specific probe both combined with a centromere 3-specific control probe was performed on the cytology slides. A 100 squamous epithelial cell nuclei of the smears per slide were analysed. As abnormal FISH pattern were considered amplified and polyploid patterns. From 71 brush biopsies of oropharynx and other locations in oral cavity analysed by FISH 49 were considered to be abnormal (69%). The over representation of polyploidy and/or TERC/SOX2 amplification in tumour samples was statistically significant when compared to controls (p = 0.01).
Conclusion: SOX2 and TERC gene amplifications are common in all squamous cell carcinomas and their detection in early stages could be crucial for early detection and more accurate prognosis. Our study strongly suggests that early detection by FISH on cytobrushed samples could be a possible non-invasive screening method even before a tissue biopsy is performed.
Ključne besede: SOX and hTERC gene amplifications, brush biopsy, Oral, oropharyngeal squamous cell carcinoma
Objavljeno: 29.06.2017; Ogledov: 112; Prenosov: 2
Celotno besedilo (1,28 MB)
Comorbidities and characteristics of coronary heart disease patients: their impact on health-related quality of lifeKsenija Tušek-Bunc
, Davorina Petek
, 2016, izvirni znanstveni članek
Opis: Background: Patients with coronary heart disease (CHD) commonly present with more than one comorbid condition, contributing to poorer health-related quality of life (HRQoL). The aim of our study was to identify the associations between HRQoL and patient characteristics, vascular comorbidities and anxiety/depression disorders.
Methods: This observational study was conducted in 36 family medicine practices selected by random stratified sampling from all regions of Slovenia. HRQoL was assessed using the European Quality of Life - 5 Dimensions (EQ-5D) questionnaire and EQ Visual Analogue Scale (EQ-VAS). The associations between HRQoL and patient characteristics stratified by demographics, vascular comorbidities, health services used, their assessment of chronic illness care, and anxiety/depression disorders were identified by ordinal logistic regression and linear regression models.
Results: The final sample included 423 CHD patients with a mean age of 68.0 ± SD 10.8 years; 35.2% were female. Mean EQ-VAS score was 58.6 ± SD 19.9 (median: 60 with interquartile range of 45–75), and mean EQ-5D index was 0.60 ± SD 0.19 (median: 0.56 with interquartile range of 0.41–0.76). The statistically significant predictors of a lower EQ-VAS score were higher family physician visit frequency, heart failure (HF) and anxiety/depression disorders (R² 0.240; F = 17.368; p < 0.001). The statistically significant predictor of better HRQoL, according to EQ-5D was higher patient education, whereas higher family physician visit frequency, HF and peripheral artery disease (PAD) were predictors of poorer HRQoL (Nagelkerke R 2 = 0.298; χ 2 = 148.151; p < 0.001).
Conclusions: Results of our study reveal that comorbid conditions (HF and PAD), family physician visit frequency and years in education are significant predictors of HRQoL in Slovenian CHD patients.
Ključne besede: coronary heart disease patient, health-related quality of life, vascular comorbidities, anxiety/depression disorders
Objavljeno: 29.06.2017; Ogledov: 100; Prenosov: 4
Celotno besedilo (407,23 KB)
Vasopressin improves outcome in out-of-hospital cardiopulmonary resuscitation of ventricular fibrillation and pulseless ventricular tachycardia: a observational cohort studyŠtefek Grmec
, Štefan Mally
, 2006, izvirni znanstveni članek
Opis: Introduction: An increasing body of evidence from laboratory and clinical studies suggests that vasopressin may represent a promising alternative vasopressor for use during cardiac arrest and resuscitation. Current guidelines for cardiopulmonary resuscitation recommend the use of adrenaline (epinephrine), with vasopressin considered only as a secondary option because of limited clinical data.
Method: The present study was conducted in a prehospital setting and included patients with ventricular fibrillation or pulseless ventricular tachycardia undergoing one of three treatments: group I patients received only adrenaline 1 mg every 3 minutes; group II patients received one intravenous dose of arginine vasopressine (40 IU) after three doses of 1 mg epinephrine; and patients in group III received vasopressin 40 IU as first-line therapy. The cause of cardiac arrest (myocardial infarction or other cause) was established for each patient in hospital.
Results: A total of 109 patients who suffered nontraumatic cardiac arrest were included in the study. The rates of restoration of spontaneous circulation and subsequent hospital admission were higher in vasopressin-treated groups (23/53 [45%] in group I, 19/31 [61%] in group II and 17/27 [63%] in group III). There were also higher 24-hour survival rates among vasopressin-treated patients (P < 0.05), and more vasopressin-treated patients were discharged from hospital (10/51 [20%] in group I, 8/31 [26%] in group II and 7/27 [26%] group III; P = 0.21). Especially in the subgroup of patients with myocardial infarction as the underlying cause of cardiac arrest, the hospital discharge rate was significantly higher in vasopressin-treated patients (P < 0.05). Among patients who were discharged from hospital, we found no significant differences in neurological status between groups.
Conclusion: The greater 24-hour survival rate in vasopressin-treated patients suggests that consideration of combined vasopressin and adrenaline is warranted for the treatment of refractory ventricular fibrillation or pulseless ventricular tachycardia. This is especially the case for those patients with myocardial infarction, for whom vasopressin treatment is also associated with a higher hospital discharge rate.
Ključne besede: vasopressin, antidiuretic hormone, ADH, out-of-hospital cardiopulmonary resuscitation, ventricular fibrillation, pulseless ventricular tachycardia
Objavljeno: 29.06.2017; Ogledov: 70; Prenosov: 4
Celotno besedilo (159,29 KB)