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Relative energy deficiency syndrome develops in children and adolescents as a result of a negative energy balance due to insufficient energy intake during intense physical exercise regimens. This energy imbalance leads to impaired physiological function of multiple organ systems. Moreover, in children and adolescents, it presents a risk for the development of long-term consequences in terms of negative effects on growth, pubertal development and bone health. Early recognition and management are therefore crucial in this age group. Due to poor awareness among young athletes, their parents, coaches, medical staff, and a non-specific clinical presentation the illness is often overlooked.

Sindrom relativnega energijskega primanjkljaja se razvije pri otrocih in mladostnikih športnikih ob negativni energijski bilanci, ki je posledica nezadostnega vnosa energije glede na velike potrebe ob intenzivni telesni vadbi. Energijsko neravnovesje privede do motenj v delovanju več organskih sistemov. Pri otrocih in mladostnikih so posledice lahko dolgoročne in se kažejo kot neugoden vpliv na rast, pubertetni razvoj in zdravje kosti. Zgodnji prepoznava in obravnava sta tako v tej starostni skupini ključni. Zaradi pomanjkljive ozaveščenosti med mladimi športniki, njihovimi starši, trenerji in zdravstvenim osebjem ter nespecifične klinične slike bolezen pogosto spregledamo.

Izhodišča: Test QuantiFERON TB (QFT TB) je prvenstveno namenjen za odkrivanje latentne (LTBI) okužbe z bacili tuberkuloze (TB). Članek obsega retrospektivno analizo rezultatov testa QFT TB v Sloveniji med letoma 2008 in 2019, opozarja na vplive predanalitskih dejavnikov na rezultate testa ter govori o razlogih za nastanek nejasnih rezultatov in o občutljivosti testa pri bolnikih z aktivno obliko TB. Metode: V obdobju 2008–2019 smo v Laboratoriju za mikobakterije Klinike Golnik s testom QFT TB testirali 29.352 vzorcev krvi bolnikov iz različnih zdravstvenih ustanov v Sloveniji. Na rezultatih testa QFT TB smo izvedli retrospektivno analizo. Rezultati: Delež pozitivnih rezultatov testa QFT TB se z leti postopno znižuje. V letu 2008 je znašal 20,8 %, v letu 2019 pa 10,7 %, kar pomeni, da je v zadnjih dvanajstih letih upadel za 48,6 %. Največjo težavo predstavljajo nejasni rezultati (letno povprečno 4,3 %), saj so za zdravnika nepovedni. Občutljivost testa QFT TB pri bolnikih z aktivno obliko TB je 82,9 %, kar je primerljivo s podatki iz tujine. Zaključek: Pomembno je, da pri odvzemu in pošiljanju krvi dosledno sledimo navodilom, saj je test QFT TB zelo občutljiv na predanalitske dejavnike in klinično stanje preiskovancev. Delež pozitivnih rezultatov testa QFT TB z leti pospešeno upada, kar je povezano z napori za omejitev širjenja TB in upadom primerov aktivne TB v naši državi.

Hipokalcemija je pogosta motnja v presnovi kalcija in fosfata pri otrocih, zlasti pri novorojenčkih. Pogosto ne povzroča simptomov. Simptomi in znaki so odvisni od otrokove starosti. Na primarni ravni zdravstvene obravnave zdravnik diagnozo hipokalcemija potrdi z laboratorijsko analizo krvi in otroka klinično stabilizira. Nadaljnjo laboratorijsko in slikovno diagnostično obravnavo opravimo na sekundarni oz. največkrat na terciarni ravni. V prispevku predstavljamo primer deklice s klinično izraženo hipokalcemijo zaradi primarnega hipoparatiroidizma ob avtoimunskem poliglandularnem sindromu tipa 1.

Hypocalcaemia is a common disorder of calcium and phosphate metabolism in children, especially in newborns. It is often asymptomatic; clinical signs and symptoms are dependent on the age of the child. The primary care physician can confirm hypocalcaemia in the child with a suspicious clinical picture and clinically stabilise the child. Further laboratory and imaging diagnostics should be performed at the secondary and most often the tertiary level of medical care. In the article, the case of a girl with clinically manifested hypocalcaemia, caused by primary hypoparathyroidism as a consequence of autoimmune polyglandular syndrome type 1, is presented.

Background: Haemophilic arthropathy is often associated with a loss of range of motion. Total knee arthroplasty is an effective treatment option for patients with end-stage haemophilic arthropathy of the knee. However, even after arthroplasty, the range of motion sometimes remains insufficient. Objective: To evaluate static progressive stretch as a treatment method for haemophilic patients with decreased range of motion after total knee arthroplasty. Methods: Static progressive stretch was used to improve range of motion in patients with a postoperative extension lag of more than 10° and flexion of less than 80°. A total of 7 knees were treated for a mean of 21.7 weeks. Results: Statistically significant increases in range of motion and in Knee Society Score were observed when comparing pre-treatment and post-treatment values. Conclusions: Static progressive stretch using an orthotic device could be a successful adjuvant method for treating joint stiffness in patients with haemophilia after total knee arthroplasty. LAY ABSTRACT Haemophilic arthropathy often results in loss of range of motion. Total knee arthroplasty is an effective treatment option for patients with end-stage haemophilic arthropathy of the knee. However, despite arthroplasty, the range of motion is sometimes insufficient. Static progressive stretch using special knee orthoses is an adjunct technique to traditional physiotherapy, intending to restore functional range of motion and decrease knee stiffness and pain. The aim of this study was to evaluate static progressive stretch as a treatment method for hemophilia patients with decreased range of motion after total knee arthroplasty.

Encephalitozoon cuniculi is a microsporidial parasite that primarily infects domestic rabbits (Oryctolagus cuniculus). It is the causative agent of encephalitozoonosis, a disease with an internationally recognized seroprevalence among rabbits. This study determines the presence, clinical manifestation, and serological status of encephalitozoonosis in pet rabbits in Slovenia using various diagnostic procedures. From 2017 to 2021, 224 pet rabbit sera were collected and tested for encephalitozoonosis with the indirect immunofluorescence assay. Immunoglobulin M (IgM) and immunoglobulin G (IgG) antibodies against E. cuniculi were confirmed in 160 (65.6%) cases. Most seropositive rabbits suffered from neurological clinical signs or signs of gastrointestinal disorders such as recurrent hypomotilities, chronic weight loss, cachexia, or anorexia, and fewer showed clinical signs related to the urinary system or phacoclastic uveitis. A quarter of the positively tested rabbits presented without clinical signs. Hematological and biochemical blood analysis confirmed that seropositive animals had elevated globulin and deviated albumin levels in comparison to the normal reference values of non-infected animals. Furthermore, rabbits with neurological clinical signs showed statistically significant higher levels of globulins and total protein. Sixty-eight whole-body radiographs and thirty-two abdominal ultrasound reports were analyzed, looking for changes in the shape or size of the urinary bladder, presence of urinary sludge or uroliths, and any abnormalities related to the kidneys (shape, size, or nephrolites). The results suggest that neurological defects in the urinary bladder caused by E. cuniculi lead to a distended urinary bladder and consequently dysuria, incontinence, urine scalding, and sludgy urine.

Ščitnica je ektopična, če ščitnično tkivo leži na netipičnem anatomskem mestu. Je posledica motnje v njenem embri- onalnem razvoju. Najpogosteje se nahaja na korenu jezi- ka, najdemo pa jo tudi drugje v poteku spusta ščitnice med embriogenezo in celo na oddaljenih mestih. Večinoma je enojna, redkeje pa opisujejo tudi primere dvojne ali celo trojne ektopije. Osebe z ektopično ščitnico navadno nimajo nikakršnih simptomov. Sicer so simptomi odvisni od lege in velikosti ektopičnega tkiva ter od njegove endokrine disfunkcije. Najpomembnejša preiskava za opredelitev mesta ektopične ščitnice je scintigrafija. »eprav pri brezsimptomnih bolnikih zdravljenje ni potrebno, moramo poskrbeti za redno slede- nje in ustrezno ukrepanje ob pojavu zapletov. Podobno kot v ortotropni ščitnici lahko tudi v ektopični ščitnici pride do bolezenskih sprememb. V prispevku predstavljamo redek primer dvojne ščitnične ektopije s subkliničnim hipotiroidizmom pri dve in pol letni deklici in podajamo pregled primerov ektopične ščitnice, ki smo jih v 5-letnem obdobju diagnosticirali na Pediatrični kliniki Ljubljana.

Ectopic thyroid gland is a rare clinical entity characterized by thyroid tissue in a location other than its normal anatom- ical position. It is a developmental abnormality. The most frequent location of ectopic thyroid is at the base of the tongue, although it can be found elsewhere along the path of thyroid embryogenic descent and even at distant body locations. Single ectopy is the most common, but dual and triple ectopy has also been described. Most people with ectopic thyroid are asymptomatic. If symptoms occur, they are related to the location and size of the ectopic tissue as well as its endocrine dysfunction. The most important diagnostic procedure for detection of ectopic thyroid tissue is scintigraphy. For patients with- out symptoms, no treatment is necessary, but they need regular follow-up and action if symptoms appear. Patho- logical changes can occur in the ectopic as in the ortho- topic gland. We present a rare case of dual ectopy with subclinical hypo- thyroidism in a two-and-a-half-year-old girl and a review of cases of ectopic thyroid diagnosed in a 5-year period at the University Children’s Hospital Ljubljana.

Natančna opredelitev antigena (Ag) RhD (D) je pomembna pri nosečnicah, prejemnikih transfuzij in krvodajalcih. Glede na tip D se pri nosečnicah odločamo o pred- in poporodni zaščiti z imunoglobulinom anti-D (Ig anti-D). Glede na določitev Ag D lahko posameznike razvrstimo med D-pozitivne (D-poz) ali D-negativne (D-neg), obstajajo pa tudi številne druge različice Ag D (variante D, D-var). Variantni aleli gena RHD (D) lahko nosijo zapis za različne oblike proteina D, razdelimo jih lahko na šibke, parcialne in Del. Ag D določamo s serološkimi metodami, v primeru nejasnosti si pomagamo z molekularnobiološkimi metodami za določitev gena D. Dokončno opredelitev D-var podamo na podlagi molekularnobioloških metod. Nosečnicam smo iz vzorcev periferne venske krvi določili Ag D na ploščici (reagent Seraclone anti-D) in na gelu (testni sistem z gelskimi karticami DiaClon ABO/D + Reverse Grouping, monoclonal antibodies, Bio-Rad, Nemčija, s katerimi ne zaznamo krvne skupine D kategorija VI). 49 nosečnicam smo opravili razširjeno serološko testiranje KS D (komercialni set ID-Partial RhD Typing Set, Bio-Rad, Nemčija). Nadaljevali smo z molekularnobiološkimi metodami: osamitev DNA (uporaba aparata BioRobot EZ1 in komercialnega set EZ1 DNA Blood 350 μl Kit, Qiagen, Nemčija), določitev genotipa D z metodo PCR-SSP (komercialni seti RBC-Ready Gene CDE, RBC-Ready Gene D weak in RBC-Ready Gene D AddOn, Inno-Train; Nemčija), pomnoževanje (aparat Veriti, Apllied BioSystems, ZDA), ločevanje produktov (elektroforezni system, BioRad, ZDA) na agaroznem gelu (Sigma, Nemčija). Ugotovili smo, da so šibke oblike D predstavljale 41 primerov (83,7 %), parcialne oblike D pa 8 primerov (16,3 %) vseh D-var. Najpogostejša oblika D-var med nosečnicami je bila šibki D tip 1 s 17 primeri (34,7 %), sledil je šibki D tip 3 s 13 primeri (26,5 %) in šibki D tip 2 z 10 primeri (20,4 %). Najpogostejša parcialna oblika D je bila D kategorija VII s 5 primeri (10,2 %). Nosečnice in prejemnike transfuzij, ki so nosilci šibkih D tipa 1, 2 ali 3, lahko varno obravnavamo kot D-poz, nosilce vseh ostalih D-var pa kot D-neg. Krvodajalce z D-var obravnavamo kot D-poz. S tem algoritmom lahko preprečimo približno 172 nepotrebnih aplikacij Ig anti-D letno in ohranjamo tudi primerne zaloge D-neg eritrocitnih komponent krvi.

Pathogens invading the mammary gland are recognized through a range of pattern recognition receptors (PRRs), residing on the plasma membrane of mammary epithelial cells. Toll-like receptor 2 (TLR2) signalling is responsible for recognition of Gram-positive bacteria, which are the most common mastitis-causing pathogens in goats. Somatic cell counts (SCC) in milk are routinely determined in goat dairy flocks and serve as an indicator of milk quality, which is highly correlated to intramammary infections. Recently, a single nucleotide polymorphism of the TLR2 was suggested to be associated with SCC in goat milk. To further test the suggested association, we genotyped 61 Slovenian Alpine goats included in the dataset. The effect of the genotype was analysed using the general linear model (GLM) procedure of SAS/STAT software. We found the TLR2 genotypes significantly (p = 0.0007) associated with milk SCC. Animals with the A/G genotype had significantly (p ≤ 0.05) lower SCC value in milk compared to the G/G genotype. Our data suggest that the A allele is the minor one and is associated with lower milk SCC. In the current study, we provide a validated PCR-RFLP based genotyping assay for the TLR2 SNP (rs650082970) and confirm its association with milk SCC. Further studies to confirm the association on a larger number of animals of different breeds and to explain functional consequences of the polymorphism in relation to SCC are encouraged.

The document presents recommendations for the comprehensive treatment of patients with haemophilia in Slovenia. It enables health workers at all three levels of health care to become well-acquainted with all the possible aspects of treatment based on the best practices of major centres worldwide, and on the studies and experience of health professionals at the National Haemophilia Centre, University Medical Center Ljubljana. The document contains definitions, treatment algorithms and lists of medications with their characteristics and appropriate dosages. It specifically defines indications for the exclusive competence of the tertiary level in Ljubljana due to the actual availability of teams and laboratory options. It also contains an extensive list of the literature on haemophilia.

Shorter time-to-result is key for improving molecular-guided epidemiological investigation of tuberculosis (TB) cases. We performed a prospective study to evaluate the use of standardized MIRU-VNTR (mycobacterial interspersed repetitive-unit-variable-number tandem-repeat) typing of Mycobacterium tuberculosis directly on 79 fresh clinical samples from 26 TB patients consecutively enrolled over a 17-month period. Overall, complete 24-locus types were obtained for 18 out of the 26 (69.2%) patients and 14 of the 16 grade 3+ and grade 2+ samples (87.5%). The degree of completion of the genotypes obtained significantly correlated with smear microscopy grade both for 26 first samples (p = 0.0003) and for 53 follow-up samples (p = 0.002). For 20 of the 26 patients for whom complete or even incomplete M. tuberculosis isolate genotypes were obtained, typing applied to the clinical samples allowed the same unambiguous conclusions regarding case clustering or uniqueness as those that could have been drawn based on the corresponding cultured isolates. Standard 24 locus MIRU-VNTR typing of M. tuberculosis can be applied directly to fresh clinical samples, with typeability depending on the bacterial load in the sample.

Haemolytic disease of the newborn (HDN), also known as haemolytic disease of the fetus and newborn (HDFN), develops in the fetus when erythrocyte alloantibodies produced by the mother pass through the placenta. Severe form of HDFN is mainly caused by anti-D antibodies, but it can also be caused by many other types of antibodies, most often by anti-Kell (anti-K), anti-c, anti-E in anti-C. In order to prevent sensitisation to erythrocyte antigens, every pregnant woman is tested for blood group AB0, D, K and for irregular antibodies (IAT–indirect antiglobulin test). For D-negative women IAT is repeated in the 28th week of pregnancy, followed by an injection of anti-D immnunoglobulin (Ig anti-D) when indicated. At the Blood Transfusion Centre of Slovenia, we have recently started to determine the fetal D status from a maternal blood sample in order to avoid the unnecessary application of Ig anti-D to women bearing Dnegative fetuses.

Heparin-induced thrombocytopenia (HIT) is an immune-mediated reaction occurring in 3 – 5 % of patients receiving heparin therapy for more than 5 days, which can lead to arterial and venous thrombosis. It is caused by IgG antibodies directed against platelet factor 4/heparin complexes, leading to platelet activation, platelet depletion and thrombocytopenia. Prolonged therapy with heparin can result in serious adverse consequences, so prompt diagnosis is of key importance for the introduction of supplemental therapy. The diagnosis of HIT is based on clinical criteria as well as on serological and functional laboratory assays. Serological assays that identify the presence of platelet factor 4/heparin antibodies in the serum are not sufficient for confirmation of diagnosis because all detected antibodies are not capable of causing thrombocytopenia and thrombosis. Since the usual enzyme-immune assays detect the presence of antibodies but not also their pathogeneity it is recommended to confirm HIT with a functional assay thatconfirms the capacity of HIT antibodies to activate or aggregate platelets. One of newer functional methods is the flow cytometric analysis of P-selectin (CD62P) expression on the standard platelets after exposure to the patient’s serum. In our experience, this test, in parallele with standard serological tests, proved its reliability for the confirmation of clinical HIT diagnosis.

BACKGROUND Unfractionated heparin and low-molecular-weight-heparins are commonly prescribed drugsin everyday clinical practice for treatment or prevention of thrombotic diseases. Heparinis used also for providing patency of various catheters. Heparin seldom causes heparininduced thrombocytopenia (HIT) and concomitant activation of coagulation cascade.Activated coagulation could result in arterial or venous thrombosis. CONCLUSIONS Unrecognized HIT could be fatal. In HIT diagnostics regular follow-up of platelet values isimportant. When platelet number is decreasing, possibility of HIT should be taken intoaccount. After assessment of the clinical scoring system in HIT probable cases specific testsshould be done. When HIT is confirmed, patients should be treated with anticoagulants.Cumarins should not be used at the beginning, but later in patients with confirmed thromboticevent

Background. Prenatal diagnostics with the genotyping using the PCR analysis of the fetal DNA holds an important place in modern gynaecology. Lately, noninvasive fetal genotyping became feasible after fetal DNA was proven and isolated from the peripherral blood of the mother.Methods. Peripherral blood samples of ninety-six RhD negative women in their 23–33 week of pregnancy were collected and the DNA of the fetus isolated with the modified method of Finning et al. Fetal RHD genotype was than determined with real time PCR method using the ABI Prism 7900 Sequence Detection System. The presence of the three parts of the RHD gene, intron 4, exon 7 as well as 10, was assesed. In order to confirm the presence of fetal DNA, the presence of the SRY gene was used with male fetuses. If the PCR reaction results of the RHD and SRY gene were negative, we assumed that the fetus was a female whose RhD was negative. In order to verify that, a presence of eight chosen polymorphic alleles was determined from the the DNA samples of the mother and from her plasma, thus indirectly confirming that it was the DNA of the fetus which was being tested.Results. In this research we accuratly predicted the genotype and gender of the fetuses of 96 RhD negative pregnant women from their peripheral blood. The predicted results of the research were compared with the actual gender and RhD phenotype of the newborn, that were determined at birth. Our accuracy in predicting the gender and the presence of the RHD gene using our real-time PCR method was 100%.Conclusions. We anticipate the fetal genotype, determined on the basis of the fetal DNA being present in the peripheral blood of the mother, to take on a leading role in prenatal investigations, especially in cases of RhD immunisation during pregnancy and in prevention of RhD immunisation with anti-D immunoglobulin in the 28th week of pregnancy.