Factors associated with COVID-19 presentation in children with asthma are poorly defined. Our study aimed to assess the clinical course of COVID-19 in children with asthma, with particular attention ...to possible risk factors for severe disease and long-term sequelae in this group of patients. We assessed the occurrence of SARS-CoV-2 infection in children with asthma six months before their regular outpatient visit to the asthma clinic. Characteristics of patients presenting with signs of SARS-CoV-2 upper (URTI) or lower respiratory tract infection (LRTI) were compared. We focused on factors previously associated with COVID-19 severity. Twenty-seven percent of patients (57/210) reported exposure to SARS-CoV-2 infection. In the symptomatic group, 36% (15/42) reported symptoms of LRTI and 64% (27/42) of URTI. Poorer asthma control was observed in patients with LRTI compared to URTI (80% vs. 7%, p < 0.001). In addition, children with poorer asthma control had a higher risk of presenting with SARS-CoV-2 LRTI in a multiple logistic regression analysis. COVID-19 disease course was not associated with regular ICS use and asthma severity. However, patients on regular ICS had better asthma control (p = 0.026). We found no PFT deterioration post-COVID-19 in either group of patients. Our results suggest good asthma control and treatment adherence prior to infection are associated with better COVID-19 outcomes in children with asthma.
Izhodišča: Cistična fibroza (CF) je najpogostejša kronična avtosomno recesivno dedna bolezen belcev. Kaže se s prizadetostjo številnih organov, zato se bolniki spremljajo v centrih CF s ...specializiranim multidisciplinarnim timom strokovnjakov. Eden takih je center CF Pediatrične klinike Ljubljana, kjer se vodijo vsi otroci in mladostniki s CF v Sloveniji. Od ustanovitve centra dalje vodimo zbirko podatkov o bolnikih, ki nam je v pomoč pri analizi razmer in pri primerjavi kakovosti obravnave naših bolnikov z drugimi evropskimi centri CF. Metode: Izvedli smo retrospektivno raziskavo z namenom pregledati in oceniti kazalce bolezni otrok in mladostnikov s CF, vodenih na Pediatrični kliniki Ljubljana v letu 2020. Pri 78 vključenih bolnikih smo analizirali podatke o demografskih značilnostih, genetskih mutacijah, pljučni funkciji, prehranjenosti, kroničnih okužbah in zdravljenju s CFTR modulatornimi zdravili (angl. cystic fibrosis transmembrane conductance regulator, CFTR – regulator transmembranske prevodnosti pri cistični fibrozi). Za primerjavo z drugimi evropskimi centri smo uporabili podatke iz letnega poročila Evropskega registra CF za leto 2020. Rezultati: Leta 2020 smo v našem centru obravnavali 78 bolnikov, izmed katerih je bilo 56 % (44/78) bolnikov moškega spola. Povprečna starost bolnikov je znašala 13,2 leta (SD 6,4 let), z razponom od 1,2 leta do 25,5 leta. Mutacija F508del je bila najpogosteje zastopana, saj je bilo kar 88,5 % nosilcev vsaj ene, pri 64,1 % obolelih pa je bila mutacija prisotna na obeh alelih. Povprečni forsirani izdihani volumen v 1 sekundi (FEV1) naših bolnikov je bil nad evropskim povprečjem, prevalenca kronične okužbe s povzročiteljem Pseudomonas aeruginosa pa nižja od evropskega povprečja. V letu 2020 smo 21 bolnikom uvedli CFTR modulatorno zdravilo, od tega 5 bolnikom lumakaftor/ivakaftor in 16 bolnikom eleksakaftor/tezakaftor/ivakaftor. Zaključek: Kazalci kakovosti obravnave otrok in mladostnikov s CF v Sloveniji dosegajo in pogosto presegajo evropsko povprečje. Med prvimi državami v Evropi smo pričeli uvajati CFTR modulatorna zdravila, ki obetajo pomembno izboljšanje kliničnega stanja in kakovosti življenja bolnikov s CF.
Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical ...syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5) and Arts syndrome. We present a Slovenian patient with PRS-I enzyme deficiency due to a novel pathogenic variant – c.424G > A (p.Val142Ile) in the PRPS1 gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections. In addition, we report the findings of a systemic literature review of all described male cases of Arts syndrome and CMTX5 as well as intermediate phenotypes. As already proposed by other authors, our results confirm PRS-I deficiency should be viewed as a phenotypic continuum rather than three separate syndromes because there are multiple reports of patients with an intermediary clinical presentation.
Duchennova mišična distrofija (DMD) je najpogostejša in ena najresnejših mišičnih bolezni otroške dobe. Gre za na kromosom X vezano recesivno živčno-mišično bolezen, ki jo povzroča mutacija v genu za ...distrofin. Primarno prizadene skeletne mišice in srčno mišico.
Pri večini dečkov se klinični znaki bolezni izrazijo z napredujočo mišično šibkostjo med 3. in 5. letom starosti. Mišična šibkost je bolj izražena v proksimalnih kot distalnih mišicah in v začetni fazi bolj vpliva na poslabšanje funkcije spodnjih kot zgornjih udov. Bolezen postopno napreduje. Pri nezdravljenih otrocih večinoma po 11. do 12. letu starosti vodi v takó resno zmanjšanje zmožnosti gibanja, da le-ti že za premagovanje krajših razdalj potrebujejo invalidski voziček. Napredujoča šibkost dihalnih mišic vodi v kronično dihalno odpoved in potrebo po pomoči pri predihavanju. Okvara funkcije srca je splošno prisotna, kajti po študijah so klinični znaki kardiomiopatije prisotni pri vseh bolnikih po 18. letu starosti.
Na podlagi klinične slike diagnozo DMD potrdimo z laboratorijskimi in genetskimi preiskavami. V primeru negativnih rezultatov genetskih preiskav, a ob močnem kliničnem sumu za DMD, pa se za potrditev diagnoze poslužujemo mišične biopsije.
Zdravljenje bolnikov z DMD zahteva multidisciplinarno obravnavo. Z uporabo kortikosteroidov (KS), fizioterapije, podpornega zdravljenja in opreme s pripomočki sta se življenjska doba in kakovost življenja bolnikov z DMD izboljšala. V fazi razvoja je več zdravil, katerih delovanje se usmerja v zmanjšanje okvare mišic, a tudi zdravil, ki bi odpravile osnovni, tj. genetski vzrok bolezni.
BACKGROUND Multiple myeloma (MM) is an incurable disease and autologous hematopoetic stem celltransplantation (HSCT) is the most effective treatment modality. It’s effectivity is evenhigher, when we ...treat patients with two consecutive autologous HSCT. We present ourexperiences with tandem autologous HSCT in patients with MM. METHODS During the period from 1. 1. 2003 untill 1. 11. 2007 we treated 62 MM patients. After induction therapy and stem cell collection we performed tandem autologous HSCT withinsix-month period. Treatment results were followed with biochemical parameters, monoclonal globulin peak and free light chains in serum. RESULTS Complete remission after induction was achieved in 1/62 (1,6 %) patients, after first HSCTin 6/62 (9.6 %) and after second HSCT in 24/62 (39 %) patients. Putting together CR andPR (partial remission) at three treatment steps, this was achieved in 32/62 (51 %), 51/62(82 %) and 55/62 (89 %) patients. 1/62 (1.6 %) patients died during the treatment. Meantime until relaps was 31,4 months (24.7–38.2 months; 95 % confidence interval) and forsurvival 50,2 months (44.0–56.4 months; 95 % confidence interval). Median relaps timewas 23 months (5.6–40.4 months; 95 % confidence interval), and median time for survival was not reached yet. CONCLUSIONS Treatment of MM patients with tandem autologous HSCT is highly effective treatment modality and our center’s experiences/results are comparable with other transplant centersworldwide. But in Slovenija, we must strictly perform all HSCT related investigations aswell as improve reporting all treatment related data to transplant center
BACKGROUND Multiple myeloma (MM) is an incurable disease and autologous hematopoetic stem celltransplantation (HSCT) is the most effective treatment modality. It's effectivity is evenhigher, when we ...treat patients with two consecutive autologous HSCT. We present ourexperiences with tandem autologous HSCT in patients with MM. METHODS During the period from 1. 1. 2003 untill 1. 11. 2007 we treated 62 MM patients. After induction therapy and stem cell collection we performed tandem autologous HSCT withinsix-month period. Treatment results were followed with biochemical parameters, monoclonal globulin peak and free light chains in serum. RESULTS Complete remission after induction was achieved in 1/62 (1,6 %) patients, after first HSCTin 6/62 (9.6 %) and after second HSCT in 24/62 (39 %) patients. Putting together CR andPR (partial remission) at three treatment steps, this was achieved in 32/62 (51 %), 51/62(82 %) and 55/62 (89 %) patients. 1/62 (1.6 %) patients died during the treatment. Meantime until relaps was 31,4 months (24.7-38.2 months; 95 % confidence interval) and forsurvival 50,2 months (44.0-56.4 months; 95 % confidence interval). Median relaps timewas 23 months (5.6-40.4 months; 95 % confidence interval), and median time for survival was not reached yet. CONCLUSIONS Treatment of MM patients with tandem autologous HSCT is highly effective treatment modality and our center's experiences/results are comparable with other transplant centersworldwide. But in Slovenija, we must strictly perform all HSCT related investigations aswell as improve reporting all treatment related data to transplant center
S transfuzijo povezana reakcija presadka proti gostitelju (angl. Transfusion associated graft versus host disease, TA-GvHD) je redek, vendar resen in življenje ogrožajoč zaplet po transfuziji krvnih ...pripravkov. Posledica, kolikor do nje pride, je bolnikova smrt v več kot 90 % primerov. Po transfuziji krvi se osebi z imunsko pomanjkljivostjo limfociti T iz darovalčeve krvi odzovejo na celične in tkivne antigene prejemnika krvi. Zato darovalčevi limfociti T aktivirajo in uničijo tarčne celice v tkivih prejemnika. Vzrok, da se imunske celice prejemnika ne odzovejo tako, da bi onemogočile darovalčeve limfocite T, je pomanjkljivost imunskega odziva pri prejemniku in le izjemoma vprašanje skladnosti HLA med prejemnikom in darovalcem.
Obsevanje krvnih pripravkov z ionizirajočimi žarki je najbolj učinkovita metoda za preprečevanje TA-GvHD. Patogensko inaktiviranje s psoralenom in UVA-žarki je enakovredno obsevanju, vendar se zaenkrat uporablja samo za trombocitne pripravke. Zato je pomembno, da lečeči zdravnik prepozna bolnike, pri katerih lahko nastane TA-GvHD in za njih naroča zgolj obsevane krvne pripravke. Obsevamo eritrocite, granulocite ter trombocite, kadar niso patogensko inaktivirani. Sveže zmrznjene plazme, krioprecipitata, zdravil iz krvi, kot so albumin, imunoglobulini, faktorji strjevanja krvi ... ter eritrocitov po odmrzovanju ne obsevamo, ker je vsebnost limfocitov T zanemarljiva. Priporočen osrednji obsevalni odmerek je znotraj 25–50 Gy.
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