Ugotavljanje zgodnjih napovednikov srčno- žilne ogroženosti pri otrocih z esencialno hipertenzijoAndreja Štelcar
, 2017, doktorsko delo/naloga
Opis: Izhodišča: Arterijska hipertenzija (AH) je ob aterosklerozi najpogostejša bolezen obtočil pri odraslih in predstavlja enega glavnih dejavnikov tveganja za nastanek in razvoj srčno-žilnih bolezni. Z vse večjo pojavnostjo debelosti v populaciji otrok in mladostnikov je postala esencialna arterijska hipertenzija (EH) ena najpogostejših kroničnih bolezni tudi v otroški dobi. AH je povezana z nastankom poškodb hipertenzivnih tarčnih organov in s tem z nastankom srčno-žilnih bolezni. Čeprav se pri otrocih srčno-žilne bolezni v manifestni obliki redko pojavljajo, rezultati številnih raziskav kažejo, da se proces ateroskleroze začne že v otroštvu. To velja tudi za pojavljanje srčno-žilnih dejavnikov tveganja, med katerimi je tudi AH, ki proces ateroskleroze pospešujejo. Da bi preprečili ali vsaj omilili nastanek srčno-žilnih bolezni, je pomembno pravočasno odkritje in zdravljenje bolezni oziroma zgodnjih sprememb. To še prav posebej velja za otroško populacijo, pri kateri so zato raziskave usmerjene v iskanje čim zgodnejših pokazateljev hipertenzivne poškodbe in prisotnosti drugih domnevnih srčno-žilnih dejavnikov tveganja.
Metode: V raziskavo smo vključili 100 otrok obeh spolov, ki so se zdravili na Kliniki za pediatrijo UKC Maribor, in smo jim trikrat zapored v različnih razmerah izmerili povišan krvni tlak (KT) ter ga nato potrdili s 24-urnim merjenjem KT ter postavili diagnozo EH. Kontrolno skupino otrok je sestavljalo 50 po spolu in starosti primerljivih zdravih otrok z normalnim KT. Opravili smo natančno anamnezo in klinični pregled, pri preiskovani skupini pa še pregled očesnega ozadja. Pri vsakem posamezniku smo izmerili telesno težo, telesno višino ter obseg pasu in bokov. Iz omenjenih meritev smo izračunali indeks telesne mase (BMI). Po standardnem postopku smo v krvi določili hemogram, reaktivni protein C (CRP), sečnino, kreatinin, sečno kislino, elektrolite, koncentracijo celokupnega holesterola, holesterola HDL, holesterola LDL, trigliceridov, krvnega sladkorja, homocisteina, apolipoproteina A1(apoA1) in B (apo B), lipoproteina (a), insulina in mikroalbumina v urinu. Adiponektin in leptin smo določali s kvantitativno sendvič imunoencimsko metodo, grelin pa po postopku kvantitativne sendvič ELISE. Za določitev fibrinogena smo uporabili modificirano metodo po Claussu. Inhibitor aktivatorja plazminogena (PAI-1) smo določili kromatografsko. Vsem otrokom smo opravili ultrazvočno meritev debline intime-medije (IMT) vratnih žil, ultrazvočno meritev mase levega prekata (LVM) in z aplanacijsko tonometrijo opravili meritev žilne kompliance (PWV).
Rezultati: Med otroci z EH in kontrolno skupino smo ugotovili statistično značilne razlike v telesni teži (p < 0,001), obsegu pasu (p < 0,001), razmerju pas/boki (p < 0,001) in BMI (p < 0,001). Otroci z EH so imeli izrazito višje vrednosti holesterola LDL (p = 0,032), trigliceridov (p = 0,011), insulina (p < 0,001), sečne kisline (p = 0,002), krvnega sladkorja (p = 0,003) in nižje vrednosti holesterola HDL (p = 0,017) in apolipoproteina A1 (p = 0,008). Statistično pomembno razliko v adipokinih smo uspeli dokazati le za adiponektin (p < 0,010).
Otroci z EH so imeli tudi višje vrednosti vseh morfoloških preiskav, a statistično pomembne razlike smo potrdili le za LVM (p < 0,001), debelino zadnje stene levega prekata (p < 0,001), debelino medprekatnega pretina (p < 0,003), IMT desno (p < 0,001), IMT levo (p < 0,001), medtem ko se skupini v vrednostih PWV nista statistično razlikovali. Kljub vsemu je imela skupina z EH statistično višje vrednosti nekaterih drugih posrednih znakov zmanjšane žilne kompliance, kot sta pulzni tlak v aorti (AoPP) (p < 0,001) in augmentacijski indeks korigiran za srčno frekvenco 75/min (Alx@HR 75) (p = 0,044).
Ključne besede: Esencialna hipertenzija, otrok, zgodnji napovedniki srčno - žilne ogroženosti, laboratorijski kazalci, morfološki kazalci
Objavljeno: 31.07.2017; Ogledov: 138; Prenosov: 12
Polno besedilo (3,75 MB)
The role of the European Academy of Teachers in General Practice and Family Medicine in family medicine education in EuropeZalika Klemenc-Ketiš
, Janko Kersnik
, 2012, pregledni znanstveni članek
Opis: Primary health care is important item of political agendas since Alma Ata conference in 1978. West Balkans share common history in development of primary care since 1920' when Andrija Stampar introduced social and community based primary care concepts. The first known specialist training in general practice in the world started in former Yugoslavia in the early 1960'. Since then, much has been done in the field of general practice and family medicine and this is reflected in The European Academy of Teachers in General Practice and Family Medicine (EURACT), which is a network organisation within World Organization of National Colleges, Academies and Academic Associations of General Practitioners/Family Physicians Region Europe (WONCA Europe). Its aim is to foster and maintain high standards of care in European general practice by promoting general practice as a discipline by learning and teaching. EURACT developed several documents and teachers' courses which can serve the development of family medicine curricula in new established departments of medical schools. This is also the case at Maribor Medical School, where learning outcomes and teaching methods are in concordance with EURACT teaching agenda, but also some innovative approaches are used, such as art and e-learning environment as teaching methods.
Ključne besede: family practice, education, Europe, Slovenia
Objavljeno: 24.07.2017; Ogledov: 67; Prenosov: 2
Polno besedilo (83,80 KB)
Importance of international networking in academic family medicineZalika Klemenc-Ketiš
, Janko Kersnik
, 2014, pregledni znanstveni članek
Opis: European family medicine/general practice (FM/GP) has travelled the long and successful journey of profiling the discipline and has produced valuable position papers on education and research. Nowadays, academic medicine is one of the pillars in the future development of FM/GP in Europe. A common European curriculum on undergraduate and postgraduate family medicine is needed. Also, a sound international platform of teaching institutions and/or teachers of family medicine would foster the further development of family medicine as an academic discipline. This would stimulate students and teachers to engage in international exchange to gain new knowledge and experiences, present their work and ideas abroad and prepare the conditions for further exchange of students and teachers.
Conclusion: Established departments of FM/GP, led by a teacher who is a family physician/general practitioner, at each Medical School in Europe should provide students with knowledge and skills related to the core attributes of FM/GP. International exchanges of teachers and students should foster the development of a common curriculum on FM in Europe and foster improvement in the quality of FM education.
Ključne besede: family practice, education, network, exchange
Objavljeno: 24.07.2017; Ogledov: 70; Prenosov: 0
Polno besedilo (71,97 KB)
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: 57; Prenosov: 1
Polno 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: 52; Prenosov: 0
Polno 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: 74; Prenosov: 1
Polno 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: 54; Prenosov: 0
Polno 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: 85; Prenosov: 0
Polno 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: 117; Prenosov: 0
Polno 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: 81; Prenosov: 0
Polno besedilo (766,41 KB)