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Novorođenačka sepsa kao klinički sindrom jedan je od najčešćih dijagnostičko-terapijskih izazova u novorođenačkoj dobi s relativno visokom stopom smrtnosti. Prema dobi manifestacije, dijeli se na ranu i kasnu sepsu, ovisno o izvorima i mišljenjima raznih stručnjaka. Može se očitovati poremećajem svih organskih sustava i brojnim kasnim komplikacijama te znatnim morbiditetom i mortalitetom. Razdoblje od drugog tjedna života primarni je interes ovog rada jer je u tom periodu (dotad prividno zdrava) novorođenčad otpuštena kući iz rodilišta, adaptirana na svakodnevne zahtjeve ekstrauterinog života, s mogućnošću razvoja niza neinfektivnih stanja i bolesti koji klinički izgledaju kao septičko stanje. Široka diferencijalna dijagnoza takvog stanja može biti ozbiljan problem koji nalaže hitnu reakciju, pravilno i pravodobno liječenje te, naposljetku, zbrinjavanje u adekvatnoj ustanovi ovisno o osnovnoj bolesti. Cilj je ovog pregleda upozoriti na niz neinfektivnih stanja koja se mogu prezentirati kliničkom slikom kasne novorođenačke sepse., Neonatal sepsis as a clinical syndrome is one of the most common challenges in neonatal medicine with a relatively high mortality rate. At the time of clinical manifestation it can be distinguished into early onset and late onset sepsis, highly depending on sources and medical experts opinions.Its multiorgan affection can be associated with major complications and high late morbidity and mortality. The period of the second week of life is the primary interest of this paper, because children who were thought to be healthy are discharged home from the maternity ward, more or less successfully adapted to extrauterine life with the possibility of developing serial noninfectious conditions and diseases that clinically impress as sepsis. Such state can make serious differental diagnostic difficulty and requires quick reaction with timely and appropriate therapy that could be crucial in the management of these patients. Definitive care should be continued in an adequate institution, depending on diagnosis. The aim of this review is pointingb out the wide range of noninfectious conditions that can present as late onset neonatal sepsis.

Uvod: Zadovoljstvo mladih liječnika vezano je ponajprije uz edukaciju tijekom specijalizacije i uvjetima rada. S obzirom na znatan odljev liječnika iz Republike Hrvatske, cilj istraživanja bio je evaluirati zadovoljstvo mladih liječnika. Metode: Povjerenstvo za mlade liječnike Hrvatske liječničke komore izradilo je anketu o zadovoljstvu mladih liječnika. Anketa je bila dostupna za ispunjavanje u razdoblju od 1. 2. do 20. 3. 2016. godine putem interneta. Rezultati: Anketu je ispunila 1531 osoba, srednje dobi 32 godine (raspon 29 – 35), 67% ženskog spola. Pedeset osam posto ispitanika napustilo bi Republiku Hrvatsku ako bi im se pružila prilika. Glavni razlozi odlaska jesu bolji uvjeti rada (74%), uređenost zdravstvenog sustava (64%) i bolja plaća (64%). U budućnosti svoj profesionalni status i razvoj ostankom ocjenjuju većinom nepromijenjen (44%). Zaključak: Rezultati pokazuju visoku razinu nezadovoljstva zdravstvenim sustavom, segmentima specijalističkog usavršavanja i ulogom mentora. Analizom čimbenika koji utječu na zadovoljstvo mladih liječnika omogućuju se razrada i donošenje mjera kojima će se navedeni trend umanjiti., Introduction: The satisfaction of junior medical doctors is primarily associated with the training they receive during the residency period and working conditions. Given a considerable brain-drain of medical doctors from the Republic of Croatia, the present research focused on the evaluation of the satisfaction of junior medical doctors. Methodology: The Junior Doctors Committee of the Croatian Medical Chamber prepared a questionnaire on the satisfaction of junior doctors. The relevant questionnaire was available for filling in online in the period from February 1 to March 20, 2016. Results: The questionnaire was completed by 1,531 persons aged between 29 and 35 (mean age 32) of which 67% were females. A 58% of respondents would leave the Republic of Croatia if offered an opportunity. The main reasons for leaving the country include better working conditions (74%), well-regulated healthcare system (64%) and higher wages (64%). In case of staying in the country, their future professional status and development would remain unaltered (44%). Conclusion: The questionnaire results show a high level of dissatisfaction with the healthcare system, some segments of the specialist training and the mentor role. The analysis of factors affecting the satisfaction of junior doctors will facilitate the preparation and adoption of measures aiming to mitigate the above-mentioned trend.

Rett syndrome is a pervasive developmental disorder with a variable clinical presentation, which is caused by point mutations or large deletions/duplications in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. The aim is to describe variation in the clinical course related to the mutation identifi ed in exon 4 of the MECP2 gene. Retrospective review of data, electroencephalography and treatment was done in a 19-year-old girl previously diagnosed with a MECP2 gene mutation. Born after an uneventful pregnancy, the female patient’s growth and psychomotor development were normal, except for delayed speech. At the age of 3 years, tonic-clonic seizures started and at the age of 3.5 years autistic behavior was observed, followed by rapid mental deterioration, loss of speech and motor skills, with periods of hyperventilation. At the age of 5 years, she showed occasionally „hand-washing“ movements. Extensive neuro-metabolic investigation was nondiagnostic. Genetic analysis revealed a novel 25 bp deletion mutation in exon 4 (c.881_905del25) of the MECP2 gene. Until now, multiple epileptic seizure types, refractory to all antiepileptic polytherapy and with normal video EEG background, have occurred daily. She is spastic and ataxic, but still able to walk slowly with a wide based gait. In this female patient, the onset of symptoms manifested much later than encountered in typical cases of Rett syndrome. Epilepsy with daily frequency is however drug resistant. Unexpectedly, she is still able to walk at the age of 19 years. A genotype-phenotype correlation is suspected., Rettov sindrom (RTT) pervazivni je razvojni poremećaj s različitim kliničkim slikama, a uzrokovan najčešće točkastim mutacijama ili delecijom/duplikacijom metil-CpG-vezanog proteina 2 (MECP2) na genu X. Cilj je opisati različitosti kliničkog tijeka bolesti koje su vezane za nađenu mutaciju na 4. eksonu gena MECP2. Retrospektivna analiza anamnestičkih podataka, electroencefalograma i liječenja kod 19-godišnje djevojke s nalazom mutacije na genu MECP2. Djevojčica je rođena nakon uredne trudnoće kao 4. dijete u obitelji, rast i psihomotorni razvoj su bili uredni, osim zaostatka u razvoju govora. Sa 3 godine započeli su toničko-klonički grčevi, a sa 3,5 godine uočava se autistično ponašanje, nakon čega je uslijedila mentalna deterioracija s prestankon govora, smetnjama motorike i povremenim kratkotrajnim javljanjima hiperventilacije. Sa 5 godina povremeno su se uočavali pokreti „pranja ruku“. Velikim opsegom neurometaboličkih pretraga nije se našao uzrok smetnjama. Genetičkom analizom nađena je delecija 25 bp kao jedna od novih mutacija u 4. eksonu (c.881_905del25) gena MECP2. Uslijedili su razni oblici epileptičkih napadaja koji su bili tvrdokorni na antiepileptičku terapiju, uz urednu osnovnu aktivnost na video-elektroencefalogramu. Djevojka ima povišen mišićni tonus, ataktičan hod i može samostalno hodati na širokoj osnovi. U ove djevojke simptomi su počeli kasnije nego u tipičnim slučajevima Rettovog sindroma. Epileptički napadaji su svakodnevni i tvrdokorni na terapiju, a 19-godišnja djevojka još hoda, a najvjerojatniji razlog je međusobna povezanost genotipa i fenotipa.