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21.
Functional complement analysis can predict genetic testing results and long-term outcome in patients with complement deficiencies
Štefan Blazina, Maruša Debeljak, Mitja Košnik, Saša Simčič, Sanja Stopinšek, Gašper Markelj, Nataša Toplak, Peter Kopač, Breda Zakotnik, Marko Pokorn, Tadej Avčin, 2018, izvirni znanstveni članek

Povzetek: Background: Prevalence of complement deficiencies (CDs) is markedly higher in Slovenian primary immunodeficiency (PID) registry in comparison to other national and international PID registries. Objective: The purposes of our study were to confirm CD and define complete and partial CD in registered patients in Slovenia, to evaluate frequency of clinical manifestations, and to assess the risk for characteristic infections separately for subjects with complete and partial CD. Methods: CD was confirmed with genetic analyses in patients with C2 deficiency, C8 deficiency, and hereditary angioedema or with repeated functional complement studies and measurement of complement components in other CD. Results of genetic studies (homozygous subjects vs. heterozygous carriers) and complement functional studies were analyzed to define complete (complement below the level of heterozygous carriers) and partial CD (complement above the level of homozygous patients). Presence of characteristic infections was assessed separately for complete and partial CD. Results: Genetic analyses confirmed markedly higher prevalence of CD in Slovenian PID registry (26% of all PID) than in other national and international PID registries (0.5–6% of all PID). Complement functional studies and complement component concentrations reliably distinguished between homozygous and heterozygous CD carriers. Subjects with partial CD had higher risk for characteristic infections than previously reported. Conclusion: Results of our study imply under-recognition of CD worldwide. Complement functional studies and complement component concentrations reliably predicted risk for characteristic infections in patients with complete or partial CD. Vaccination against encapsulated bacteria should be advocated also for subjects with partial CD and not limited to complete CD.
Ključne besede: complement deficiency, primary immunodeficiency, laboratory analysis, genetic analysis, clinical manifestations
Objavljeno v DiRROS: 12.11.2020; Ogledov: 1404; Prenosov: 602
.pdf Celotno besedilo (1000,60 KB)

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Continuous glucose monitoring use and glucose variability in pre-school children with type 1 diabetes
Klemen Dovč, Kevin Cargnelutti, Anže Šturm, Julij Šelb, Nataša Bratina, Tadej Battelino, 2018, izvirni znanstveni članek

Povzetek: Aims. The objective of this nationwide population-based cohort study was to evaluate the correlation between continuous glucose monitoring (CGM) use and glucose variability in pre-schoolers with type 1 diabetes. Methods. We analysed data from the Slovenian National Registry. The primary endpoint was the difference in glucose variability between periods, during which participants were using CGM and periods, during which CGM was not used, over 5 years. Results. A total of 40 children <8 years old were followed for an estimated observational period of 116 patient/years. Mean age at CGM initiation was 3.5 (±1.7) years. Both standard deviation of mean glucose [3.6 mmol/L (3.2–3.9) with CGM and 4.3 mmol/L (3.8–4.7) without CGM, p < 0.001] and coefficient of variation [44.0% (40.4–47.0) with CGM and 46.1% (42.3–49.4) without CGM, p = 0.021] were lower during the periods, when CGM was used. Frequent CGM use (>5 days/week) was associated with a 0.4% [4.4 mmol/mol] reduction in glycated haemoglobin level (7.6% compared to 7.2%, p = 0.047). Conclusions. Our results indicate that the use of CGM was associated with reduced glucose variability during a 5 year follow-up period among pre-schoolers with type 1 diabetes.
Ključne besede: continuous glucose monitoring, type 1 diabetes, children, insulin therapy
Objavljeno v DiRROS: 12.11.2020; Ogledov: 1302; Prenosov: 830
.pdf Celotno besedilo (738,73 KB)
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Rekonstrukcije v maksilofacialni kirurgiji
Tadej Dovšak, 2019, strokovni članek

Ključne besede: maksilofacialna kirurgija, mikrovaskularni prenos tkiv, kosti obraznega skeleta
Objavljeno v DiRROS: 31.12.2019; Ogledov: 2407; Prenosov: 694
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Obravnava bolnika z nizkomalignim gliomom
Uroš Smrdel, Tadej Strojnik, 2011, strokovni članek

Objavljeno v DiRROS: 31.08.2018; Ogledov: 2866; Prenosov: 717
.pdf Celotno besedilo (132,32 KB)

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Upper limb exoskeleton control for isotropic sensitivity of human arm
Rok Goljat, Tadej Petrič, Jan Babič, 2017, objavljeni znanstveni prispevek na konferenci

Objavljeno v DiRROS: 30.03.2018; Ogledov: 3227; Prenosov: 1027
.pdf Celotno besedilo (58,22 KB)

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Open source EMG device for controlling a robotic hand
Mišel Cevzar, Tadej Petrič, Jan Babič, 2017, objavljeni znanstveni prispevek na konferenci

Objavljeno v DiRROS: 30.03.2018; Ogledov: 3465; Prenosov: 1628
.pdf Celotno besedilo (493,57 KB)

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