Aneemia lapseeas

Aneemia on kliinilises praktikas sage probleem. Aneemia diagnoosimisel on põhiliseks näitajaks vere vähene hemoglobiinisisaldus. Vanusega vere hemoglobiinisisaldus muutub, mistõttu on aneemia diagnoosimisel vaja arvestada just vastava vanuserühma hemoglobiini referentsväärtusi. Lastel on kõige sagedasemaks aneemiaks rauapuudusaneemia. Jätkuvalt puuduvad aga rauapuuduse hindamise ühtsed kriteeriumid imikutel ja väikelastel. Rauapuuduse peamiseks põhjuseks on toitmisvead, eelkõige raua vähesus toidus või rauavähese biosaadavusega toit. Rauapuudus suurendab infektsioonidesse haigestumise riski ning võib mõjutada ka imiku ja väikelapse arengut. Seetõttu tuleks rauapuudusaneemia riskirühma lapsi sõeltestida, sest kroonilise, aeglaselt tekkinud aneemia korral on lapsed sageli asümptoomsed. Sageduselt järgneb rauapuudus - aneemiale parainfektsioosne aneemia. Eesti Arst 2008; 87(12):962−9

Beeta-talasseemia

Talasseemiad on pärilikud hemoglobinopaatiad, mis on põhjustatud sellest, et sünteesitakse ehituslikult anomaalset hemoglobiini (Hb) molekuli või toimub normaalse hemoglobiini mittepiisav süntees. Beetatalasseemia korral sünteesitakse Hb-d vähe ja selle tagajärjel tekib hüpokroomne aneemia. Artiklis on kirjeldatud 12aastase poeglapse haigusjuhtu, kellel on mikrotsütaarne aneemia 3. eluaastast. Eesti Arst 2006; 85 (10): 709–71

Juveniilne krooniline müelomonotsütaarne leukeemia

Juveniilne müelomonotsütaarne leukeemia on harva esinev pahaloomuline kasvajaline vereloomekoehaigus, mida esineb sagedamini poistel. Haiguse aluseks on vereloome tüviraku defekt, mis põhjustab granulotsütaarsete ja monotsütaarsete rakuliinide produktsiooni kasvu. Artiklis on käsitletud juveniilse müelomonotsütaarse leukeemia diagnoosimist ja ravivõimalusi ning toodud 3aastase poisi haigusjuhu kirjeldus. Eesti Arst 2004; 83 (6): 399–40

Vastsündinute hiline hemorraagiline tõbi ehk hiline K-vitamiini defi tsiidist põhjustatud verejooks. Kirjanduse ülevaade ja haigusjuhu kirjeldus

K-vitamiini kui olulise koagulatsiooni komponendi defi tsiit võib põhjustada spontaanseid eluohtlikke hemorraa­giaid. Kõikidel vastsündinutel esineb sünnil suhteline K-vitamiini puudulik­kus, mille tõttu lastele manustatakse profülaktiliselt sünni järel K-vitamiini. K-vitamiini defitsiidi kliiniliseks väl­jenduseks on verejooksud. Arvestades lapse vanust verejooksu tekkimise ajal, jaotatakse K-vitamiini defi tsiidist põh­justatud verejooks kolmeks alatüübiks: varane, klassikaline ning hiline vorm. Hilised tüsistused on harvad. Haigusju­hu kirjelduses käsitletakse ühe kuu va­nust poisslast, kes hospitaliseeriti inten­siivravi osakonda seoses teadvushäirega, mille põhjuseks olid hilisest K-vitamiini puudulikkusest tingitud ajuverevalu­mid. Pärast sündi ei olnud laps saanud profülaktilist ravi K-vitamiiniga. Eesti Arst 2008; 87(10):812−81

Characteristics of white blood cell count in acute lymphoblastic leukemia : A COST LEGEND phenotype-genotype study

Background White blood cell count (WBC) as a measure of extramedullary leukemic cell survival is a well-known prognostic factor in acute lymphoblastic leukemia (ALL), but its biology, including impact of host genome variants, is poorly understood. Methods We included patients treated with the Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL-2008 protocol (N = 2347, 72% were genotyped by Illumina Omni2.5exome-8-Bead chip) aged 1-45 years, diagnosed with B-cell precursor (BCP-) or T-cell ALL (T-ALL) to investigate the variation in WBC. Spline functions of WBC were fitted correcting for association with age across ALL subgroups of immunophenotypes and karyotypes. The residuals between spline WBC and actual WBC were used to identify WBC-associated germline genetic variants in a genome-wide association study (GWAS) while adjusting for age and ALL subtype associations. Results We observed an overall inverse correlation between age and WBC, which was stronger for the selected patient subgroups of immunophenotype and karyotypes (rho(BCP-ALL )= -.17, rho(T-ALL )= -.19; p < 3 x 10(-4)). Spline functions fitted to age, immunophenotype, and karyotype explained WBC variation better than age alone (rho = .43, p << 2 x 10(-6)). However, when the spline-adjusted WBC residuals were used as phenotype, no GWAS significant associations were found. Based on available annotation, the top 50 genetic variants suggested effects on signal transduction, translation initiation, cell development, and proliferation. Conclusion These results indicate that host genome variants do not strongly influence WBC across ALL subsets, and future studies of why some patients are more prone to hyperleukocytosis should be performed within specific ALL subsets that apply more complex analyses to capture potential germline variant interactions and impact on WBC.Peer reviewe

Acute central nervous system toxicity during treatment of pediatric acute lymphoblastic leukemia : phenotypes, risk factors and genotypes

Publisher Copyright: © 2022 Ferrata Storti Foundation Published under a CC BY-NC license.Central nervous system (CNS) toxicity is common at diagnosis and during treatment of pediatric acute lymphoblastic leukemia (ALL). We studied CNS toxicity in 1, 464 children aged 1.0-17.9 years, diagnosed with ALL and treated according to the Nordic Society of Pediatric Hematology and Oncology ALL2008 protocol. Genome-wide association studies, and a candidate single-nucleotide polymorphism (SNP; n=19) study were performed in 1, 166 patients. Findings were validated in an independent Australian cohort of children with ALL (n=797) in whom two phenotypes were evaluated: diverse CNS toxicities (n=103) and methotrexate-related CNS toxicity (n=48). In total, 135/1, 464 (9.2%) patients experienced CNS toxicity for a cumulative incidence of 8.7% (95% confidence interval: 7.31-10.20) at 12 months from diagnosis. Patients aged ≥10 years had a higher risk of CNS toxicity than had younger patients (16.3% vs. 7.4%; P<0.001). The most common CNS toxicities were posterior reversible encephalopathy syndrome (n=52, 43 with seizures), sinus venous thrombosis (n=28, 9 with seizures), and isolated seizures (n=16). The most significant SNP identified by the genome-wide association studies did not reach genomic significance (lowest P-value: 1.11x10-6), but several were annotated in genes regulating neuronal functions. In candidate SNP analysis, ATXN1 rs68082256, related to epilepsy, was associated with seizures in patients <10 years (P=0.01). ATXN1 rs68082256 was validated in the Australian cohort with diverse CNS toxicities (P=0.04). The role of ATXN1 as well as the novel SNP in neurotoxicity in pediatric ALL should be further explored.Peer reviewe

Posterioorse reversiibelse entsefalopaatia sündroom (PRES): kirjanduse ülevaade ja kahe haigusjuhu kirjeldus

3aastasel ägeda lümfoblastleukeemia ja 5aastasel osteomüeliidi ning septilise šokiga lapsel tekkisid põhihaiguse ravikuuri ajal teadvushäired ja krambid, mille põhjuseks oli posterioorse reversiibelse entsefalopaatia sündroom (PRES). PRES on tänapäeval sagenev tüsistus kriitiliselt haigete, eriti ägeda leukeemiaga laste induktsioonravil. Soodustavaks teguriks neurotoksilise seisundi väljakujunemisel võib olla arteriaalne hüpertensioon või neerupuudulikkus. Nüüdisaegsed neuroradioloogia meetodid võimaldavad kinnitada PRESi diagnoosi, välistada neuroloogilise leiu muid põhjusi, alustada õigeaegset ravi ja vältida pöördumatute ajukahjustuste väljakujunemist. Eesti Arst 2010; 89(3):191−19

Seizures during treatment of childhood acute lymphoblastic leukemia: A population-based cohort study

Background Seizures are common in children with acute lymphoblastic leukemia (ALL). As ALL survival rates are improving, the challenge to minimize treatment related side effects and late sequelae rises. Here, we studied the frequency, timing, etiology and risk factors of seizures in ALL patients. Methods The study included children aged 1–17.9 years at diagnosis of B-cell-precursor and T cell ALL who were treated according to the Nordic Society of Pediatric Haematology and Oncology (NOPHO) ALL2008 protocol between 2008 and 2015. Detailed patient data were acquired from the NOPHO ALL2008 registry and by review of medical records. Results Seizures occurred in 81/1464 (5.5%) patients. The cumulative incidence of seizures at one months was 1.7% (95% CI: 1.2–2.5) and at one year 5.3% (95% CI 4.2–6.5%). Patients aged 10–17.9 years, those with T cell immunophenotype, CNS involvement, or high-risk induction with dexamethasone had higher risk for seizures in univariable analyses. Only age remained a risk factor in multivariable analyses (the cumulative incidence of seizures for patients 10–17.9 years old at one year was 9.0% (95% CI: 6.2–12.9)). Of the 81 patients with seizures, 43 had posterior reversible encephalopathy syndrome (PRES), 15 had isolated seizures, nine had sinus venous thrombosis (SVT), three had stroke-like syndrome, and 11 had other neurotoxicities. Epilepsy diagnosis was reported in totally 11 ALL survivors at last follow up. Conclusion Seizures are relatively common in ALL patients and occur most often in patients with PRES, SVT, or as an isolated symptom. Older children have higher risk of seizures.Peer reviewe

Sport professionnel : Conventions collectives, toute une coordination !

Le sport professionnel fait l'objet de différentes conventions collectives avec en particulier la CCNS et des accords sectoriels conclus dans différentes disciplines sportives. La superposition de leurs champs d'application pose la question de la coordination de leurs clauses