The influence of specific aspects of occupational stress on security guards' health and work ability: detailed extension of a previous study

In our earlier study of security guards, we showed that higher occupational stress was associated with health impairments (metabolic syndrome, diabetes, hypertension, cardiovascular diseases) and work disability. The aim of this study was to further explore the association of specific occupational stressors with health impairments and work disability parameters in 399 Serbian male security guards (aged 25-65 years). Ridge linear regression analysis revealed that, after controlling for age, body mass index, and smoking status, professional stressors including high demands, strictness, conflict/uncertainty, threat avoidance and underload were significant positive predictors of fasting glucose, triglycerides, total and LDL cholesterol, blood pressure, heart rate, Framingham cardiovascular risk score, and temporary work disability. The security profession is in expansion worldwide, and more studies are needed to establish precise health risk predictors, since such data are generally lacking

Deep venous thrombosis in children with malignant diseases

Uvod: Duboka venska tromboza (DVT) sve se češće dijagnosticira u djece s malignim bolestima. Etiologija je multifaktorijalna, a uključuje kongenitalne i stečene protrombotičke čimbenike. Cilj: Cilj rada bio je istražiti čimbenike rizika za trombozu, lokalizaciju DVT-a, terapijski pristup i komplikacije DVT-a i antitrombotičke terapije u djece s malignim bolestima te usporediti dobivene rezultate s dostupnom literaturom. Metode: U istraživanje je bilo uključeno osmero djece (5 dječaka i 3 djevojčice) s DVT-om koji su liječeni od malignih bolesti na Klinici za pedijatriju KBC-a Rijeka od 1. siječnja 2006. do 31. prosinca 2021. godine. Svim pacijentima bili su ugrađeni centralni venski kateteri (CVK). Rezultati: Prosječna dob pacijenata bila je 10.4 godine (raspon 3 mjeseca – 17.5 godina). DVT je bila najčešća u djece s akutnom limfoblastičnom leukemijom. Dva pacijenta imala su DVT gornjih ekstremiteta, dva donjih ekstremiteta i dva desnog atrija, jedan trombozu cerebralnog venskog sinusa, a jedan pacijent je imao trombozu portalne vene. Četiri (50%) pacijenta imala su CVK-udruženu trombozu. Prirođena trombofilija uočena je u 5 (62.5%) pacijenata (MTHFR homozigotnost u 3 pacijenata i mutacija faktora V Leiden u 2 pacijenta). Najčešći čimbenici rizika za DVT bili su prisutnost CVK (100%), krvna grupa A i/ili B (75%), prirođena trombofilija (62.5%), istodobna primjena više protrombotičkih lijekova (62.5%) i dob iznad 10 godina (50%). Terapija izbora bio je niskomolekularni heparin (LMWH), s postignutom potpunom rekanalizacijom u 75% pacijenata. U 2 slučaja terapijskog neuspjeha učinjena je mehanička trombektomija. Dva pacijenta imala su posttrombotički sindrom i dvoje ponovnu trombozu. Zaključak: Unatoč malom broju pacijenata, naši rezultati vezani uz liječenje, komplikacije liječenja i posttrombotičke komplikacije su u skladu s objavljenim podacima. S obzirom na povećani rizik i multifaktorijalnu etiologiju DVT-a u djece s malignim bolestima, neophodna je individualna i pažljiva procjena čimbenika rizika, te pravovremena dijagnoza i terapijska intervencija.Introduction: Deep venous thrombosis (DVT) is increasingly being diagnosed in children with malignancies. The etiology is multifactorial, and includes congenital and acquired prothrombotic factors. Aim: The aim of the study was to investigate risk factors for thrombosis, localization of DVT, therapeutic approach, and complications of DVT and antithrombotic therapy in children with malignant diseases, and to compare the obtained results with available literature. Methods: Eight children (5 boys and 3 girls) with DVT treated for malignant diseases at the Department of Pediatrics, Clinical Hospital Center Rijeka, Croatia, between January 1, 2006, and December 31, 2021 were included in the study. All patients had implanted central venous catheters (CVC). Results: The mean age was 10.4 years (range 3 months – 17.5 years). DVT was the most frequent in children with acute lymphoblastic leukemia. Two patients had DVT of the upper extremities, lower extremities and right atrium respectively, one patient had cerebral venous sinus thrombosis, and one patient had portal vein thrombosis. Four (50%) patients had CVK-related thrombosis. Congenital thrombophilia was observed in 5 (62.5%) patients (MTHFR homosigosity in 3 patients and Factor V Leiden in 2 patients). The most common risk factors for DVT were the presence of CVC (100%), blood group A and/or B (75%), congenital thrombophilia (62.5%), concomitant use of multiple prothrombotic drugs (62.5%) and age over 10 years (50%). The therapy of choice was low molecular weight heparin (LMWH), with achieved complete venous recanalization in 75% of patients. In 2 cases of therapeutic failure, mechanical thrombectomy was performed. Two patients had postthrombotic syndrome, and recurrent thrombosis was observed in 2 patients. Conclusion: Despite a limited number of patients, our treatment-related outcomes, treatment adverse affects, and postthrombotic complications are consistent with published data. Given an increased risk and the multifactorial etiology of DVT in children with malignant diseases, individual and careful assessment for risk factors, and timely diagnosis and therapeutic intervention are essential

Deep venous thrombosis in children with malignant diseases

Uvod: Duboka venska tromboza (DVT) sve se češće dijagnosticira u djece s malignim bolestima. Etiologija je multifaktorijalna, a uključuje kongenitalne i stečene protrombotičke čimbenike. Cilj: Cilj rada bio je istražiti čimbenike rizika za trombozu, lokalizaciju DVT-a, terapijski pristup i komplikacije DVT-a i antitrombotičke terapije u djece s malignim bolestima te usporediti dobivene rezultate s dostupnom literaturom. Metode: U istraživanje je bilo uključeno osmero djece (5 dječaka i 3 djevojčice) s DVT-om koji su liječeni od malignih bolesti na Klinici za pedijatriju KBC-a Rijeka od 1. siječnja 2006. do 31. prosinca 2021. godine. Svim pacijentima bili su ugrađeni centralni venski kateteri (CVK). Rezultati: Prosječna dob pacijenata bila je 10.4 godine (raspon 3 mjeseca – 17.5 godina). DVT je bila najčešća u djece s akutnom limfoblastičnom leukemijom. Dva pacijenta imala su DVT gornjih ekstremiteta, dva donjih ekstremiteta i dva desnog atrija, jedan trombozu cerebralnog venskog sinusa, a jedan pacijent je imao trombozu portalne vene. Četiri (50%) pacijenta imala su CVK-udruženu trombozu. Prirođena trombofilija uočena je u 5 (62.5%) pacijenata (MTHFR homozigotnost u 3 pacijenata i mutacija faktora V Leiden u 2 pacijenta). Najčešći čimbenici rizika za DVT bili su prisutnost CVK (100%), krvna grupa A i/ili B (75%), prirođena trombofilija (62.5%), istodobna primjena više protrombotičkih lijekova (62.5%) i dob iznad 10 godina (50%). Terapija izbora bio je niskomolekularni heparin (LMWH), s postignutom potpunom rekanalizacijom u 75% pacijenata. U 2 slučaja terapijskog neuspjeha učinjena je mehanička trombektomija. Dva pacijenta imala su posttrombotički sindrom i dvoje ponovnu trombozu. Zaključak: Unatoč malom broju pacijenata, naši rezultati vezani uz liječenje, komplikacije liječenja i posttrombotičke komplikacije su u skladu s objavljenim podacima. S obzirom na povećani rizik i multifaktorijalnu etiologiju DVT-a u djece s malignim bolestima, neophodna je individualna i pažljiva procjena čimbenika rizika, te pravovremena dijagnoza i terapijska intervencija.Introduction: Deep venous thrombosis (DVT) is increasingly being diagnosed in children with malignancies. The etiology is multifactorial, and includes congenital and acquired prothrombotic factors. Aim: The aim of the study was to investigate risk factors for thrombosis, localization of DVT, therapeutic approach, and complications of DVT and antithrombotic therapy in children with malignant diseases, and to compare the obtained results with available literature. Methods: Eight children (5 boys and 3 girls) with DVT treated for malignant diseases at the Department of Pediatrics, Clinical Hospital Center Rijeka, Croatia, between January 1, 2006, and December 31, 2021 were included in the study. All patients had implanted central venous catheters (CVC). Results: The mean age was 10.4 years (range 3 months – 17.5 years). DVT was the most frequent in children with acute lymphoblastic leukemia. Two patients had DVT of the upper extremities, lower extremities and right atrium respectively, one patient had cerebral venous sinus thrombosis, and one patient had portal vein thrombosis. Four (50%) patients had CVK-related thrombosis. Congenital thrombophilia was observed in 5 (62.5%) patients (MTHFR homosigosity in 3 patients and Factor V Leiden in 2 patients). The most common risk factors for DVT were the presence of CVC (100%), blood group A and/or B (75%), congenital thrombophilia (62.5%), concomitant use of multiple prothrombotic drugs (62.5%) and age over 10 years (50%). The therapy of choice was low molecular weight heparin (LMWH), with achieved complete venous recanalization in 75% of patients. In 2 cases of therapeutic failure, mechanical thrombectomy was performed. Two patients had postthrombotic syndrome, and recurrent thrombosis was observed in 2 patients. Conclusion: Despite a limited number of patients, our treatment-related outcomes, treatment adverse affects, and postthrombotic complications are consistent with published data. Given an increased risk and the multifactorial etiology of DVT in children with malignant diseases, individual and careful assessment for risk factors, and timely diagnosis and therapeutic intervention are essential

Deep venous thrombosis in children with malignant diseases

Uvod: Duboka venska tromboza (DVT) sve se češće dijagnosticira u djece s malignim bolestima. Etiologija je multifaktorijalna, a uključuje kongenitalne i stečene protrombotičke čimbenike. Cilj: Cilj rada bio je istražiti čimbenike rizika za trombozu, lokalizaciju DVT-a, terapijski pristup i komplikacije DVT-a i antitrombotičke terapije u djece s malignim bolestima te usporediti dobivene rezultate s dostupnom literaturom. Metode: U istraživanje je bilo uključeno osmero djece (5 dječaka i 3 djevojčice) s DVT-om koji su liječeni od malignih bolesti na Klinici za pedijatriju KBC-a Rijeka od 1. siječnja 2006. do 31. prosinca 2021. godine. Svim pacijentima bili su ugrađeni centralni venski kateteri (CVK). Rezultati: Prosječna dob pacijenata bila je 10.4 godine (raspon 3 mjeseca – 17.5 godina). DVT je bila najčešća u djece s akutnom limfoblastičnom leukemijom. Dva pacijenta imala su DVT gornjih ekstremiteta, dva donjih ekstremiteta i dva desnog atrija, jedan trombozu cerebralnog venskog sinusa, a jedan pacijent je imao trombozu portalne vene. Četiri (50%) pacijenta imala su CVK-udruženu trombozu. Prirođena trombofilija uočena je u 5 (62.5%) pacijenata (MTHFR homozigotnost u 3 pacijenata i mutacija faktora V Leiden u 2 pacijenta). Najčešći čimbenici rizika za DVT bili su prisutnost CVK (100%), krvna grupa A i/ili B (75%), prirođena trombofilija (62.5%), istodobna primjena više protrombotičkih lijekova (62.5%) i dob iznad 10 godina (50%). Terapija izbora bio je niskomolekularni heparin (LMWH), s postignutom potpunom rekanalizacijom u 75% pacijenata. U 2 slučaja terapijskog neuspjeha učinjena je mehanička trombektomija. Dva pacijenta imala su posttrombotički sindrom i dvoje ponovnu trombozu. Zaključak: Unatoč malom broju pacijenata, naši rezultati vezani uz liječenje, komplikacije liječenja i posttrombotičke komplikacije su u skladu s objavljenim podacima. S obzirom na povećani rizik i multifaktorijalnu etiologiju DVT-a u djece s malignim bolestima, neophodna je individualna i pažljiva procjena čimbenika rizika, te pravovremena dijagnoza i terapijska intervencija.Introduction: Deep venous thrombosis (DVT) is increasingly being diagnosed in children with malignancies. The etiology is multifactorial, and includes congenital and acquired prothrombotic factors. Aim: The aim of the study was to investigate risk factors for thrombosis, localization of DVT, therapeutic approach, and complications of DVT and antithrombotic therapy in children with malignant diseases, and to compare the obtained results with available literature. Methods: Eight children (5 boys and 3 girls) with DVT treated for malignant diseases at the Department of Pediatrics, Clinical Hospital Center Rijeka, Croatia, between January 1, 2006, and December 31, 2021 were included in the study. All patients had implanted central venous catheters (CVC). Results: The mean age was 10.4 years (range 3 months – 17.5 years). DVT was the most frequent in children with acute lymphoblastic leukemia. Two patients had DVT of the upper extremities, lower extremities and right atrium respectively, one patient had cerebral venous sinus thrombosis, and one patient had portal vein thrombosis. Four (50%) patients had CVK-related thrombosis. Congenital thrombophilia was observed in 5 (62.5%) patients (MTHFR homosigosity in 3 patients and Factor V Leiden in 2 patients). The most common risk factors for DVT were the presence of CVC (100%), blood group A and/or B (75%), congenital thrombophilia (62.5%), concomitant use of multiple prothrombotic drugs (62.5%) and age over 10 years (50%). The therapy of choice was low molecular weight heparin (LMWH), with achieved complete venous recanalization in 75% of patients. In 2 cases of therapeutic failure, mechanical thrombectomy was performed. Two patients had postthrombotic syndrome, and recurrent thrombosis was observed in 2 patients. Conclusion: Despite a limited number of patients, our treatment-related outcomes, treatment adverse affects, and postthrombotic complications are consistent with published data. Given an increased risk and the multifactorial etiology of DVT in children with malignant diseases, individual and careful assessment for risk factors, and timely diagnosis and therapeutic intervention are essential

A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia

Abstract Introduction: Heterozygous pathogenic and likely pathogenic sequence variants in the RUNX1 (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction and an increased risk of developing myelodysplasia and acute myeloid leukemia. The majority of causative variants are substitutions, which rarely occur de novo. The aim of this case report is to present a patient with congenital thrombocytopenia caused by a deletion variant in exon 9 in the RUNX1 gene. Case report: A one-month-old male infant was admitted to the Clinical Hospital Center Rijeka because of anemia and thrombocytopenia verified in the course of an acute viral infection. During follow-up, he occasionally had petechiae and ecchymoses on the lower extremities after mild trauma, with no other symptoms. The patient had persistent slightly decreased values of platelets with normal morphology, but with pathological aggregation with adrenaline and adenosine diphosphate. Due to the unclear etiology of persistent mild thrombocytopenia, he was referred for genetic testing at the age of five. Genomic DNA was isolated from the patient’s peripheral blood and whole-exome sequencing was performed using the nextgeneration sequencing method. A heterozygous frameshift variant, c.1160delG (NM_001754.4), was identified in exon 9. The variant is classified as likely pathogenic. Conclusion: To the best of our knowledge, the heterozygous variant c.1160delG in the RUNX1 gene was first described in our patient. Although pathogenic variants in the RUNX1 genes are very rare, persistently low platelet counts of unclear etiology should raise suspicion of an underlying genetic disorder