Febrilne konvulzije najčešći su konvulzivni poremećaj u djetinjstvu, zbog čega bi liječnici trebali biti upoznati s pravilnom procjenom i liječenjem ovoga uobičajenog stanja. Definira se kao bilo ...koji napadaj popraćen vrućicom, bez infekcije središnjega živčanog sustava, koji se javlja kod djece između šest mjeseci i pet godina. U upotrebi je pet kriterija prema kojima se klasificiraju kao jednostavne ili složene febrilne konvulzije. Ova klasifikacija nudi drugačije smjernice za kliničku praksu, poglavito odluku o provođenju lumbalne punkcije kako bi se isključila intrakranijalna infekcija. Hrvatsko društvo za dječju neurologiju izradilo je 2012. godine prve smjernice za racionalnu dijagnostiku i terapiju febrilnih konvulzija koje su trebale biti izvedive u svim bolničkim ustanovama u Republici Hrvatskoj. Iako su smjernice bile od velike pomoći mnogim kliničarima, dobivanjem novih medicinskih dokaza i razumijevanjem kliničkih entiteta koju se prezentiraju febrilnim konvulzijama, a variraju od samolimitirajućeg poremećaja bez dugoročnih posljedica preko samoograničavajućih i medikamentima kontroliranih entiteta pa sve do teških epileptičkih encefalopatija, nove smjernice pridonose postavljanju dijagnoze u hitnoj ambulanti, uključuju preporuke o hospitalizaciji, primjeni elektroencefalografije, neuroslikovnih pretraga, profilaksi diazepamom i antipireticima. Iako nove smjernice sadrže nove kliničke preporuke, ostavljaju neka neriješena pitanja na koja buduća klinička istraživanja trebaju ponuditi odgovore.
Rano suzbijanje, prekidanje epileptičkih napadaja središnji je stup u strategiji njihova liječenja. Većina epileptičkih napadaja događa se izvan medicinske ustanove, najčešće u kućnom okruženju. ...Stoga smo izradili i predložili ovaj algoritam zbrinjavanja motoričkih/konvulzivnih epileptičkih napadaja u izvanbolničkom okruženju, prvenstveno s ciljem pružanja uniformne informacije i edukacije roditelja/skrbnika te za olakšavanje snalaženja liječnicima primarne zdravstvene zaštite i timovima hitne medicinske pomoći. Za potrebe pisanja ovog rada analizirali smo i sintetizirali postojeće smjernice u cilju preporuke jednostavnog, razumljivog i racionalnog terapijskog algoritma koji savjetujemo i primjenjujemo kao službeni algoritam preporuka naše ustanove. U njegovoj izradi usmjerili smo se na svjetske i nacionalne preporučene algoritme kao i dostupne studije koje su, koliko je to moguće, temeljene na dokazima. Prema našim saznanjima ovo je prvi pisani nacionalni algoritam takve vrste te do sada nisu postajale pisane smjernice/upute za liječenje epileptičkih napadaja, produljenih epileptičkih napadaja i epileptičkog statusa u izvanbolničkom okruženju uzimajući u obzir dostupnost, racionalnost i primjenjivost pojedinih lijekova u izvanbolničkim uvjetima, uvažavajući kliničku praksu u Republici Hrvatskoj. Sukladno navedenom,
primjena benzodiazepina (BZD), vremenski jasno definirana, smatra se prvom linijom liječenja epileptičkog napadaja. Izvanbolnička primjena BZD-a, prvenstveno midazolama za orkomukuznu primjenu ili diazepama za rektalnu primjenu, povezana je s kraćim trajanjem generaliziranih konvulzivnih napadaja, smanjenjem vjerojatnosti ponavljajućih napadaja i smanjenjem broja posjeta hitnoj pomoći. Ukoliko napadaj potraje >3 minuta, svakako je potrebno žurno primijeniti jedan od BZD-a, pod pretpostavkom da ga se posjeduje (midazolam oromukozno – prednost! ili diazepam rektalno), te isto ponoviti u slučaju daljnjeg trajanja napadaja duljeg od pet minuta te pozvati/alarmirati sustav hitne medicinske pomoći. Uz provođenje mjera održavanja vitalnih funkcija potrebno je inzistirati na intravaskularnom pristupu za ponovljenu primjenu BZD-a, no doza BZD-a može se ponoviti intramuskularno. U rijetkim slučajevima može se primijeniti fenobarbiton intramuskularno, kao i levetiracetam intravenozno, a u slučaju izostanka njihova učinka započeti s primjenom midazolama u trajnoj infuziji. Dostupnost primjerenih oblika BZD-a, sukladno smjernicama, u izvanbolničkom okruženju kao i njihova pravilna uporaba – pravodobna primjena i odgovarajuće doziranje početkom napadaja – dva su ključna koraka prema poboljšanju
cjelokupne zdravstvene skrbi u djece s visokim rizikom za pojavu epileptičkih napadaja i djece s epilepsijom. Navedeno ujedno predstavlja i pravovremeno suzbijanje produljenih epileptičkih napadaja i prevenciju epileptičkog statusa.
To compare motor, cognitive and language characteristics in children aged 18 months who were prenatally exposed to low-level methyl-mercury (MeHg), and to analyze the eventual differences in these ...characteristics in relation to cord blood THg concentration.
The total number of 205 child-mother pairs was included in the study, and total cord blood mercury was measured in 198 of them. Out of the 198 already measured samples, 47 of them have also been tested for methyl-mercury in cord blood. Data regarding the 47 samples of MeHg levels has been used for calculating the correlation between cord blood THg and cord blood MeHg. MeHg and THg showed a significant correlation (r=0.95, p<0.05). One month after the delivery, mothers were asked to complete the questionnaire regarding socioeconomic factors, breastfeeding of their infants, and dietary habits during pregnancy. Neurodevelopmental assessment of motor, cognitive and language skills were conducted on 168 children using The Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III). Regarding the cord blood THg concentration, 135 children were divided in 4 quartile groups. Their neurodevelopmental characteristics have been compared.
The cord blood THg concentration median and inter-quartile range was 2.98ng/g (1.41–5.61ng/g). There was a negative correlation between cord blood THg concentration and fine motor skills (rho=−0.22, p=0.01). It is evident that children grouped in 2nd ,3rd and 4th quartile had statistically significant lower fine motor skills assessment related to those grouped in 1st quartile (2nd quartile −1.24, p=0.03; 3rd quartile −1.28, p=0.03; 4th quartile −1.45, p=0.01). The differences in fine motor skills assessments between children in 2nd and 3rd and 3rd and 4th quartile were not statistically significant.
Intrauterine exposure to low-level THg (MeHg) is associated with alterations in fine motor skills at the age of 18 months.
•Prenatal exposure to low-level of methylmercury has a negative effect on fine motor skills in children at 18 months of age.•Increase of methylmercury level in cord blood is in direct correlation with the decrease of fine motor skills.•Cerebellum and its functions seems to be particularly affected by prenatal exposure to low level of methylmercury.
Epilepsy is one of the most common chronic diseases in children, and cannot be controlled with conventional antiepileptic drugs in 30% of cases. Therefore, in these cases, alternative approach such ...as corticosteroid therapy (CT) is used. The aim of this study was to analyze different types of CT used to treat drug-resistant childhood epilepsies, treated at Rijeka University Hospital Centre during a 5-year period (2016-2020). This retrospective study included 32 patients. The following parameters were analyzed: number of patients with a particular diagnosis, average age (in months) at the onset of epilepsy, average epilepsy duration (in months) prior to CT, average number of antiepileptic drugs used prior to CT, presence of changes on magnetic resonance imaging (MRI), presence of comorbidities, and types of CT. The average age at the onset of epilepsy was 14 months and average epilepsy duration prior to CT was 16 months. On average, 5 antiepileptic drugs were used prior to CT. MRI changes were present in 53.13% and comorbidities in 81.25% of study patients. Prednisone therapy was used in 28.13%, combined therapy with prednisone and methylprednisolone in 65.63%, and methylprednisolone in 6.25% of patients. Study results revealed the use of CT for particular diagnosis to differ among the centers, as well as within the same center, so it is important to highlight the importance of reaching universal guidelines for CT therapy of childhood epilepsies.
Abstract Background Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis, characterized by the presence of unique hairless ...scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations and central nervous system anomalies. According to diagnostic criteria proposed by Moog 2009, ocular abnormalities are supposed to be the most consistent feature of ECCL. Patient Description We report on an 18-year-old girl with almost all central nervous system alterations described in ECCL patients, major skin alteration which includes nevus psiloliparus, but no ocular i.e. head mesenchyme involvement. Conclusion Our report would suggest more variability in clinical features and a more complex genetic/embryonic etiology of ECCL.
The aim of the present study was to evaluate the association between prenatal exposure to mercury (Hg) and neurodevelopment of the child, taking into account genetic polymorphism of apolipoprotein E ...(Apoe) and other relevant confounders. Six hundred and one mother-child pairs were recruited from the central Slovenia region and 243 from Rijeka, on the Croatian coast of the northern Adriatic. The total Hg in cord blood, Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) assessment at 18 months of age and Apoe genotyping was performed on 361 children; 237 of them were from Slovenia and 124 from Croatia. The results showed negative association between low-to-moderate Hg exposure in children with normal neurodevelopmental outcome and cognitive and fine motor scores at 18 months of age as assessed by Bayley III. The Hg-related decrease in cognitive score was observed only in children carrying at least one Apoe ε4 allele, while the decrease in fine motor scores was independent of the Apoe genotype. Adjusting for selenium (Se) and lead (Pb) levels, a positive association between Se and the language score and a negative association between Pb and the motor score was observed, but not in the subgroup of children carrying the ε4 allele.
•Apoe ε4 carriers showed negative association between cord blood Hg and cognitive score.•Fine motor score was negatively associated with cord blood Hg in all children.•Gene-environment interaction was confirmed for the cognitive score.•.Se and Pb levels confounded the association between Hg and neurodevelopment.
Febrilne konvulzije su najčešći konvulzivni poremećaj. Obično predstavljaju samolimitirajući poremećaj bez dugoročnih posljedica. Međutim, mogu predstavljati početak epilepsije stoga je rastući broj ...epilepsijskih sindroma povezanih sa febrilnim konvulzijama. Ovi sindromi prezentiraju se od samoograničavajućih i medikamentima kontroliranih entiteta do teških epileptičkih encefalopatija. Razumijevanje spektra poremećaja povezanih s febrilnim konvulzijama doprinosi dijagnozi koja zauzvrat nudi informacije o terapijskoj paradigmi, prognozi i genetičkom savjetovanju.
Cerebralna paraliza najčešći je uzrok trajnih i teških motoričkih oštećenja u djece. Smatra se posljedicom oštećenja nezrelog mozga
ili mozga u razvoju. U terminske novorođenčadi etiologija je još i ...danas nedovoljno poznata i razlikuje se od etiologije CP-a u prijevremeno
rođene djece. Prikazana je etiologija i rizični čimbenici za razvoj CP-a u terminske novorođenčadi rođene i/ili liječene u
KBC-u Rijeka od 2002. do 2013. godine. Udio terminske novorođenčadi u skupini djece sa CP-om iznosio je 40%, uz najvišu zastupljenost
postnatalne etiologije od 47%, za razliku od drugih autora koji navode prenatalnu etiologiju vodećom. Razlog tome može biti i
primjena suvremene klasifikacije i podjele CP-a. Intrapartalna etiologija nađena je u 18%, a prenatalna u 35% slučajeva. U djece s
nepoznatom etiologijom nađeni su rizični čimbenici tijekom porođaja koji mogu upućivati na intrapartalnu etiologiju, čime bi se
povećao njen udio u ukupnoj etiologiji CP-a. Radi eventualne prevencije potrebna su daljnja ciljana istraživanja o etiologiji CP-a u
terminske novorođenčadi, služeći se jasnom klasifikacijom i definicijom CP-a.
Voltažno ovisni natrijski kanali sudjeluju u ekscitabilnosti neurona, nužni su za inicijaciju i propagaciju akcijskog potencijala u neuronima. Mutacija SCN1A gena (engl. sodium channel, voltage ...gated, type I alpha subunit) koji kodira α1 podjedinicu voltažno ovisnih natrijskih
kanala povezana je s nekoliko epilepsijskih sindroma, u rasponu od relativno blagih fenotipa nađenih u obiteljima s genskom epilepsijom s febrilnim konvulzijama plus (GEFS+) do teške mioklone epilepsije ranog djetinjstva poznate kao Dravet sindrom. Dravet sindrom jedan je od najtežih epilepsijskih sindroma karakteriziran rezistentnim epileptičkim napadajima i teškim kognitivnim zaostajanjem u dotad normalnog djeteta. Oko 80 % pacijenata s Dravet sindromom nosi mutaciju SCN1A gena. Ovaj pregledni članak prikazuje recentne znanstvene informacije o Dravet sindromu kao primjeru genske epilepsije nastale mutacijom SCN1A gena. Prikazujemo i naša dva pacijenta s Dravet sindromom kod kojih je postavljena dijagnoza na temelju kliničkog tijeka bolesti, odnosno genskog testiranja.
The aim of this study was to evaluate the association of maternal blood selenium (Se) levels and cord blood Se levels with neonatal cerebellum measures and child neurodevelopment at the age of 18 ...months. Moreover, to investigate whether the neonatal cerebellum measures could be used as a potential biomarker for selenium homeostasis during pregnancy.
The study population consisted of 205 mother-child pairs from Croatian Mother and Child Cohort. Maternal blood and cord blood were obtained at delivery and selenium level was analyzed by Inductively Coupled Plasma Mass Spectrometry. Cranial ultrasonography examination was performed on 49 newborns – cerebellum length and width have been measured. Neurodevelopmental assessment of cognitive, language and motor skills were conducted on 154 children, using The Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III), at the age of 18 months.
The mean levels of selenium in maternal blood and cord blood were 92.6 ng/g and 97.0 ng/g, respectively. Maternal blood selenium levels were moderately and negatively correlated (r = −0.372; p = 0.008) with cerebellum length, while cord blood selenium levels were positively correlated with cerebellum width (r = 0.613; p = 0.007) among female children group. Maternal blood selenium levels were weakly and positively correlated (r = 0.176; p = 0.029) with child's cognitive abilities.
To the best of our knowledge, our study is the first one investigating the association between neonatal brain measures and selenium levels in mother-child pairs. Our results indicate that prenatal selenium intake correlated with cerebellum length and width measured by cranial ultrasonography. Hence, cerebellum may be used as a potential biomarker and a target “organ” for early detection of possible adverse effects of prenatal status to various micronutrients.
•Maternal blood selenium levels were moderately and negatively correlated with cerebellum length.•Cord blood selenium levels were positively correlated with cerebellum width among female children group.•Maternal blood selenium levels were positively correlated with child's cognitive abilities.•Neonatal cerebellum measures may be used as a potential biomarker for prenatal selenium exposure/homeostasis.
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