33 research outputs found
NeuroloŔke manifestacije i osobitosti spavanja u osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a rare genetic disorder leading to skeletal fragility, fractures and deformities. The main pathophysiologic
eff ect of OI is reduction in either the quality or the quantity of type I collagen, aff ecting the structures that normally contain type
I collagen. COL1A1 and COL1A2 genes account for 80% of cases. Our aim was to review relevant information on the neurodevelopment,
sleep issues and neurologic complications in OI. The nervous system is involved in OI because of softening of bone at the base
of the skull, resulting in upwards migration of the upper cervical spine and odontoid process. The disease may directly involve neurovascular
structures, leading to cavernous fi stulas, dissections, or aneurysms. The brain parenchyma can be aff ected in OI, with
manifestations such as cerebral atrophy, hydrocephalus and cerebellar hypoplasia. Basilar impression/invagination are serious
craniocervical junction abnormalities that can be life threatening. There is still no knowledge about sleep phenotype in OI. Neurologic
manifestations and sleep disorders are valuable prognostic factors and are highly important features within the phenotypic
complexity of OI. The measures of prevention in OI stress the need of regular monitoring of these issues from an early age and education
of both OI patients and their families.Osteogenesis imperfecta (OI) je rijedak genetiÄki poremeÄaj koji dovodi do krhkosti kostiju, prijeloma i deformiteta. Glavni patofi zioloÅ”ki
uÄinak OI je smanjenje u kvaliteti ili kvantiteti kolagena tip I te su stoga zahvaÄene strukture koje normalno sadrže kolagen tip
I. U 80% sluÄajeva postoje promjene u genima COL1A1 i COL1A2. NaÅ” cilj je bio pretražiti relevantne podatke o neurorazvoju, spavanju
i neuroloÅ”kim komplikacijama u OI. ŽivÄani sustav je zahvaÄen u OI zbog omekÅ”avanja kosti na bazi lubanje, Å”to rezultira migracijom
gornjeg dijela cervikalne kralježnice i odontoidnog procesusa. Bolest može izravno zahvatiti neurovaskularne strukture pa
nastaju kavernozne fi stule, disekcije ili aneurizme. Moždani parenhim je zahvaÄen u OI, s kliniÄkim entitetima kao Å”to su cerebralna
atrofi ja, komunicirajuÄi hidrocefalus i cerebelarna hipoplazija. Bazilarna impresija/invaginacija su ozbiljne abnormalnosti kraniocervikalne
veze i mogu biti životno ugrožavajuÄe. Zasad postoji vrlo malo saznanja o obrascima spavanja u OI. NeuroloÅ”ke komplikacije
i poremeÄaji spavanja su korisni prognostiÄki Äimbenici i izrazito važne manifestacije unutar složenog fenotipa u OI. Mjere
prevencije u OI ukazuju na potrebu redovitog praÄenja ove problematike od rane dobi i edukacije bolesnika s OI i njihovih obitelji
Evaluacija utjecaja fizioterapije na kvalitetu života i samopoimanje zdravlja osoba oboljelih od neurofibromatoze tipa 1
Uvod: Neurofibromatoza tip 1 (NF1) je autosomno
dominantna genetska bolest koja je uzrokovana
promjenom NF1 gena na 17. kromosomu. Bolest se
javlja podjednako u oba spola. Jednako tako, može biti
naslijeÄena od jednog od roditelja ili se može pojaviti
prvi put u obitelji kao novonastala promjena NF1 gena.
Cilj: Cilj rada je utvrditi postoji li razlika u kvaliteti života
izmeÄu skupine ispitanika oboljelih od NF-a 1 kod kojih
je primijenjena fizioterapija i ispitanika s NF-om 1 kod
kojih nije primijenjena fizioterapija.
Materijali i metode: Uzorak je obuhvaÄao N=44
ispitanika. U istraživanju je koriŔten upitnik za procjenu
zdravstvene kvalitete života SF-36 (engl Short form
health survey-36) i vizualno analogna skala boli.
Rezultati: U domenama upitnika za procjenu zdravstvene
kvalitete života prosjek zadovoljstva ispitanika u obje
skupine najveÄi je u domeni fiziÄkog funkcioniranja
(skupina A: M=56,15, skupina B: M=81,45). Prisutna
je statistiÄki znaÄajna razlika u stupnju boli izmeÄu
skupina (p<0,01).
ZakljuÄak: Rezultati provedenog istraživanja pokazali
su dobru kvalitetu života u obje skupine ispitanika. ViŔa
percepcija boli u NF1 skupini A upuÄuje na potrebu za
daljnjim koriŔtenjem fizioterapije, ali i prepoznavanjem
emocionalnih poteÅ”koÄa i depresivnosti kao moguÄeg
uzroka boli
Parasomnias: differential diagnostic aproach and importance of polysomnography
Parasomnija je poremeÄaj spavanja s visokom prevalencijom u opÄoj populaciji. Bez obzira na to Å”to je parasomnija veÄinom benigne naravi, najÄeÅ”Äe predstavlja vrlo neugodan i nepoželjan fenomen u spavanju u djece i odraslih, snižava kvalitetu života, a može biti krivo protumaÄena i lijeÄena kao epilepsija. Diferencijalna dijagnostika je posebice izazovna u osoba s napadajima s predominantnim kompleksnim motoriÄkim ponaÅ”anjem koji nastaju tijekom hipermotorne epilepsije s noÄnim napadajima, kada može dovesti do nepotrebnih i skupih pretraga te neuspjeÅ”nog lijeÄenja. Koegzistencija parasomnije i epilepsije u istoj obitelji i/ili u iste osobe upuÄuje na zajedniÄke neurofizioloÅ”ke temelje. U ovom preglednom radu opisane su kliniÄke i neurofizioloÅ”ke osobitosti najÄeÅ”Äih parasomnija, genetske osnove te pouzdani elementi u diferencijalnoj dijagnostici parasomnija i noÄnih epileptiÄkih napadaja. Prikazana je dijagnostiÄka vrijednost anamnestiÄkih podataka, video EEG polisomnografije i dijagnostiÄkih skala. U djece s epilepsijom i parasomnijama, pogotovo u djece koja imaju noÄne napadaje, ne smije se zanemariti postojanje dnevne pospanosti i poteÅ”koÄa spavanja. Svaku osobu s epilepsijom
i s dnevnom pospanoÅ”Äu ili sumnjom i na neepileptogene noÄne dogaÄaje treba poslati na cjelonoÄnu polisomnografiju. LijeÄenje komorbiditeta koji pogorÅ”avanju spavanje u osoba s epilepsijom i kronofarmakologija epilepsije osiguravaju bolji uspjeh lijeÄenja epilepsije. Pravovremeno prepoznavanje postojanja parasomnije omoguÄava pravilnu procjenu njezinoga zdravstvenog znaÄenja za osobu i utjecaja na kvalitetu života. UvoÄenje medicine spavanja u kurikulume diplomskog i poslijediplomskog obrazovanja omoguÄava adekvatno obrazovanje zdravstvenih radnika i stjecanje potrebnih vjeÅ”tina za rad u specijaliziranim laboratorijima i odjelima za
poremeÄaje spavanja.Parasomnias are sleep disorders with a high prevalence in the general population. Regardless of the fact that parasomnia is mostly benign in nature, it often represents a very unpleasant and undesirable phenomena during sleep in children and adults, lowering the quality of life, and can be misinterpreted and treated as epilepsy. Differential diagnosis is especially challenging in people with seizures with dominant complex motor behavior that occur during hypermotor epilepsy with nocturnal seizures when it can lead to unnecessary and expensive examinations and unsuccessful treatment. The coexistence of parasomnia and epilepsy in the same family and/or in the same person points to the common neurophysiological foundation. This review paper describes the clinical and neurophysiological features of the most common parasomnias, their genetic basis, and reliable elements in the differential diagnosis of parasomnias and nocturnal epileptic seizures. The diagnostic value of anamnestic data, video EEG polysomnography and diagnostic scales is presented. In children with epilepsy and parasomnias, especially in children who have nocturnal seizures, daytime sleepiness and difficulty sleeping should not be ignored. Any person with epilepsy and with daytime sleepiness or suspicion of non-epileptogenic nocturnal events should be sent for overnight polysomnography. Treatment of comorbidities that worsen sleep in people with epilepsy and chronopharmacology of epilepsy ensure better success in the treatment of epilepsy. Timely recognition of the existence of parasomnia allows a proper assessment of its health significance and its impact on the quality of life. The introduction of sleep medicine into the curricula of the graduate and postgraduate education enables adequate education of health workers and the acquisition of the necessary skills for working in specialized laboratories and units for sleep disorders
Kardiorespiracijske komplikacije u bolesnika s osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, usually caused by dominant mutations of genes coding for
collagen type I alpha chains, COL1A1/A2. Although skeletal manifestations of OI are most readily observable, cardiopulmonary
disorders in patients with OI are increasingly recognized as life-threatening but treatable disorders. Unfortunately, the majority of
patients with moderate to severe types of OI die from or with cardiopulmonary complications. The lungs and the heart are often
unrecognizable and neglected organs in patients with OI. In monitoring of patients with OI, attention is mostly focused on monitoring
long bone and spine deformities, and indirectly deformities of the chest wall, which have consequences on the development of
lung and the airway diseases. Lung disorder is frequently ignored until breathing problems become severe. An important component
in patients with OI is obstructive lung disease, sleep disordered breathing, as well as acute and chronic infection often connected
with resultant bronchiectasis. In addition to respiratory complications, some patients with OI have serious cardiovascular
problems, including severe mitral valve prolapse, aortic valve insuffi ciency and dilation of the aorta, which require cardiac surgery.
The diagnosis and management of the lung and cardiovascular complications in some patients with OI are quite diffi cult. In all
patients with OI, it is important to recognize and monitor respiratory and cardiovascular manifestations in order to prevent further
progression of any complications.Osteogenesis imperfecta (OI) je nasljedna bolest vezivnog tkiva koja je najÄeÅ”Äe uzrokovana dominantnim mutacijama gena koji
kodiraju alfa lance kolagena tip I, COL1A1/A2. Iako se su skeletne manifestacije najuoÄljivije, srÄanopluÄne bolesti u bolesnika s OI sve
se viÅ”e prepoznaju kao za život opasne bolesti koje se mogu lijeÄiti. Nažalost, veÄina bolesnika s umjerenim do teÅ”kim tipovima OI
umire zbog srÄanopluÄnih komplikacija ili s njima. PluÄa i srce Äesto ostaju neprepoznati i zanemareni organi u bolesnika s OI. U
praÄenju bolesnika s OI pozornost je uglavnom usredotoÄena na praÄenje deformiteta dugih kostiju i kralježnice te neizravno na
deformitete stijenke prsnog koÅ”a koji utjeÄu na razvoj pluÄnih bolesti i bolesti diÅ”nih putova. PluÄni poremeÄaj Äesto se zanemaruje
sve dok problemi s disanjem ne postanu doista teÅ”ki. U bolesnika s OI važna sastavnica je opstruktivna bolest pluÄa, poremeÄaj
disanja u snu te akutna i kroniÄna infekcija koja je Äesto povezana s nastankom bronhiektazija. Uz diÅ”ne komplikacije neki bolesnici
s OI imaju ozbiljne srÄanožilne probleme ukljuÄujuÄi težak prolaps mitralnog zaliska, insufi cijenciju aortnog zaliska i dilataciju aorte,
Å”to zahtijeva operaciju srca. Dijagnostika i zbrinjavanje pluÄnih i srÄanožilnih komplikacija priliÄno je teÅ”ko u nekih bolesnika s OI.
Kod svih bolesnika s OI važno je prepoznati i pratiti diÅ”ne i srÄanožilne manifestacije kako bi se sprijeÄilo daljnje napredovanje
komplikacija
ANTENATAL DETECTION OF CHROMOSOMAL ABNORMALITIES COMBINING QF-PCR AND CYTOGENETIC ANALYSIS
Aim: To compare the diagnostic values and limitations of quantitative fluorescent polymerase chain reaction (QF-PCR) and conventional cytogenetic analysis in prenatal diagnosis of chromosomal abnormalities.
Methods: A prospective study included simultaneous QF-PCR and cytogenetic analysis of 133 prenatal samples routinely obtained by amniocentesis or chorionic villus sampling (CVS). Additionally, QF-PCR analysis was performed on 14 tissue samples collected after termination of pregnancy (TOP) for which karyotyping could not be performed due to culture failure.
Results: Among 133 analyzed prenatal samples, chromosomal abnormalities were diagnosed in 12 cases (9%), including 10 cases of numerical chromosomal aberrations and two cases with unbalanced structural rearrangements. Nine out of 12 chromosomal abnormalities were also detected with QF-PCR. However, all cases of major aneuploidies were successfully disclosed with QF-PCR, resulting in 100% detection rate for chromosomes 21, 18, 13, X and Y. Using a set of markers specific for chromosomes 21, 18 and 13, QF-PCR analysis of tissues collected after TOP revealed chromosomopathy in 21.4% of cases (two cases of trisomy 18 and one triploidy). A comparison of STR markers confirmed monozygosity in two monochorionic/diamniotic twin pregnancies.
Conclusion: QF-PCR has been shown as a rapid and reliable method for prenatal diagnosis of the most common chromosomal aneuploidies, and as an adequate alternative to conventional karyotyping in cases where cytogenetic analysis is not possible due to failure of culturing process. However, conventional cytogenetics still presents a gold standard for the detection of structural aberrations and rare aneuploidies
Sources of variability in expiratory flow profiles during sleep in healthy young children
Standard lung function tests are not feasible in young children, but recent studies show that the variability of expiratory tidal breathing flow-volume (TBFV) curves during sleep is a potential indirect marker of lower airway obstruction. However, the neurophysiological sources of the TBFV variability in normal subjects has not been established. We investigated sleep stages and body position changes as potential sources for the TBFV curve variability. Simultaneous impedance pneumography (IP), polysomnography (PSG) and video recordings were done in 20 children aged 1.4-6.9 years without significant respiratory disorders during sleep. The early part of expiratory TBFV curves are less variable between cycles of REM than NREM sleep. However, within individual sleep cycles, TBFV curves during N3 are the least variable. The differences in TBFV curve shapes between sleep stages are the main source of overnight variability in TBFV curves and the changes in body position have a lesser impact.Peer reviewe
Guidelines of the Croatian Child Neurology Society for Pharmacotherapy of Epilepsy in Children and Adolescents
Primjena antiepileptiÄkih lijekova pri lijeÄenju epilepsije u djece i adolescenata, a osobito donoÅ”enje odluke o zapoÄinjanju farmakoterapije mogu biti zahtjevni i složeni s obzirom na razliÄite farmakoterapijske moguÄnosti. AntiepileptiÄke lijekove treba propisivati prema generiÄkom nazivlju pojedinog lijeka, a ne prema farmaceutskom odnosno tvorniÄki zaÅ”tiÄenom imenu. LijeÄenje epilepsije treba zapoÄeti lijekom prvog izbora: izvornim (originalnim) lijekom ili generiÄkim. U smjernicama za farmakoterapiju epilepsija u djece prikazani su
opÄa naÄela farmakoloÅ”kog lijeÄenja epilepsije i moguÄnosti donoÅ”enja odluka o farmakoloÅ”kom lijeÄenju epilepsija i epileptiÄkih sindroma u Republici Hrvatskoj. U radu je dan i kratak osvrt na najÄeÅ”Äe upotrebljavane i najvažnije antiepileptiÄke lijekove, njihove neželjene uÄinke i interakcije. Navedeni su i noviji antiepileptiÄki lijekovi koji joÅ” nisu na osnovnoj ili dopunskoj listi lijekova u RH, no primjenjuju se pri lijeÄenju epilepsija u djece i uÄinkoviti su. Lijekovi prvog izbora za napadaje sa žariÅ”nim poÄetkom i žariÅ”ne epilepsije jesu okskarbazepin (razina dokaza: klasa 1A (AAN) i GRADE 1B) i karbamazepin (razina dokaza: klasa 1A (AAN) i GRADE 1B). AntiepileptiÄki lijek prvog izbora za epileptiÄke napadaje s generaliziranim poÄetkom i generalizirane epilepsije, ponajprije u djeÄaka, jest valproat (razina dokaza: klasa 1A (AAN) i GRADE 1A). Zbog moguÄega teratogenog i nepovoljnog uÄinka na postnatalni razvoj djece izložene in utero valproatima i lijekovima generiÄki srodnima valproatu kao prvi lijek izbora za generaliziranu epilepsiju bolesnicama se preporuÄuju levetiracetam (razina dokaza: klasa 1B (AAN) i GRADE 1C) i etosuksimid (potonji za apsanse) (razina dokaza: klasa 1A (AAN), GRADE 1B), i to od dojenaÄke do kraja generativne dobi. Svakako je opravdana primjena valproata u djevojÄica kao lijeka izbora pri nedjelotvornosti ili nuspojavama antiepileptiÄkog lijeka prvog izbora za generalizirane epilepsije i kada trudnoÄa nije vjerojatna zbog težine bolesti.The use of antiepileptic drugs in the treatment of epilepsy in children and adolescents, and first of all decision making on pharmacotherapy, may be demanding and complex given the various pharmacologic possibilities. Antiepileptic drugs should be prescribed according to the generic term of a single drug rather than the pharmaceutical/factory-protected name. Treatment of epilepsy should start with the first choice drug: the original or generic drug. Guidelines for pharmacotherapy of epilepsy in children are presented as the general principles of
pharmacological treatment of epilepsy and as decision making about pharmacological treatment of epilepsy and epileptic syndromes in the Republic of Croatia. The paper also briefly reviews the most commonly used and most important antiepileptic drugs, their adverse effects and interactions. New antiepileptic drugs that are not yet on the primary or supplemental list of medicines in Croatia are also listed, but are applied in the treatment of epilepsy in children and are effective. The first choices for seizures with focal onset and focal epilepsy are oxcarbazepine (evidence level: class 1A (AAN) and GRADE 1B) and carbamazepine (evidence level: class 1A (AAN) and GRADE 1B). Antiepileptic drug of the first choice for seizures with generalized onset /generalized epilepsy in male patients is valproate (evidence level: class 1A (AAN) and GRADE 1A). Levetiracetam (evidence level: class 1B (AAN) and GRADE 1C) and etosuximid (the latter for absence seizures) (evidence level: class 1A (AAN) and GRADE 1B) are recommended as the drugs of the first choice in the treatment of generalized seizures/epilepsy in female patients since infancy due to possible teratogenic and other adverse effects on postnatal development after intrauterine exposure to valproic acid and valproic acid related drugs. It is certainly justified to use valproate in girls as a therapy in the case of inefficiency/antiepileptic side effects of the first choice therapy for generalized epilepsy, and when pregnancy is unlikely due to the severity of the disease itself
Prospektivno praÄenje trudnica na monoterapiji lamotriginom u Hrvatskoj - predkoncepcijsko savjetovanje i praÄenje lijekova
We prospectively surveyed 23 pregnant women with epilepsy on lamotrigine monotherapy and reported outcome of their pregnancies, including one fetal intrauterine death, one spontaneous abortion and two preterm deliveries. There were no congenital malformations in their offspring. Women with pregnancy planning and folic acid intake delivered babies with higher values of birth weight and birth length. There was large inter-patient variation during drug monitoring and in the need of dose adjustment. Individual approach to every woman and monotherapy with minimal effective lamotrigine dose with frequent drug monitoring enhances the possibility for successful pregnancy. The management of women with epilepsy should begin with pre-pregnancy counseling. Planned pregnancy enables periconceptional folic acid supplementation. Despite the small number of cases, these data indicate that lamotrigine treatment during pregnancy might be relatively safe. Larger prospective studies are needed to obtain adequate power for statistical analysis including long-term cohort studies.U ovoj studiji smo prospektivno pratili ishod trudnoÄe u 23 trudnice s epilepsijom koje su uzimale lamotrigin kao monoterapiju. TrudnoÄa je kod bolesnica rezultirala intrauterinom smrÄu djeteta u jednom sluÄaju. spontanim abortusom u jednom sluÄaju, te prijevremenim porodom u dva sluÄaja. Kod novoroÄenÄadi nisu zabilježene kongenitalne malformacije. Žene koje su planirale trudnoÄu i uzimale folnu kiselinu rodile su djecu s viÅ”om tjelesnom masom i visinom. Postojala je velika razliÄitost medu bolesnicama u praÄenju doze lijeka te u potrebi za usklaÄivanjem doze. VeÄa je moguÄnost uspjeÅ”nog planiranja trudnoÄe ako se svakoj bolesnici pristupi individualno uz minimalnu djelotvornu dozu lijeka (lamotrigin). LijeÄenje trudnica treba zapoÄeti savjetovanjem prije zaÄeÄa kada je moguÄe i pravodobno zapoÄeti s uzimanjem folne kiseline. UnatoÄ malom broju sluÄajeva podaci iz naÅ”e studije pokazuju kako lijeÄenje lamotriginom tijekom trudnoÄe može biti relativno sigurno. Potrebne su veÄe prospektivne studije kako bi se postigla zadovoljavajuÄa statistiÄka snaga dobivenih podataka
Fenotip spavanja u djece s Downovim sindromom ā izmijenjena arhitektura spavanja i poremeÄeno disanje u snu
The aim of the study was to assess sleep architecture and breathing in sleep in children with Down syndrome. The study was conducted by using overnight video-polysomnography (V-PSG) in children with Down syndrome and age-matched children from the general population. Analysis of polysomnographic parameters revealed that compared to the norms of healthy age- and maturitymatched children from the general population, children with Down syndrome had significantly shorter sleep latency (p=0.007), shorter total sleep time (p=0.004), lower sleep efficiency (p=0.010), less NREM1 sleep phase (p=0.0002), less NREM3 sleep phase (p=0.034), less REM sleep (p=0.034) in favour of more NREM2 phase but not significantly (p=0.069), and spent more time awake after sleep onset (p=0.0002). Children with Down syndrome had significantly more obstructive sleep apnoeas and hypopnoeas per hour (higher obstructive sleep apnoeas and hypopnoeas index) (p=0.008), but less central sleep apnoea per hour (lower central apnoeas index) (p=0.041), which led to the nonsignificantly lower total apnoea-hypopnoea index (p=0.762) in children with Down syndrome. The mean and longest apnoea duration did not differ significantly between these two groups. Children with Down syndrome had a significantly lower mean and nadir oxygen saturation (p=0.008 and p=0.001, respectively). In conclusion, the majority of respiratory complications in children with Down syndrome can be prevented by raising awareness of sleep disturbances in children with Down syndrome among their parents and health care providers and by introducing early routine V-PSG in the follow up of these children.Cilj: Istražiti arhitektoniku spavanja i disanja tijekom sna u djece s Downovim sindromom. Metode: CjelonoÄna videopolisomnografija (V-PSG) u skupini djece s Downovim sindromom i u onoj iz opÄe populacije odgovarajuÄe dobi i zrelosti. Rezultat: Analiza polisomnografskih parametara pokazala je da djeca s Downovim sindromom, u usporedbi s normativima u zdrave djece u opÄoj populaciji, odgovarajuÄe dobi i zrelosti, imaju znaÄajno kraÄu latenciju spavanja (SL) p=0,007, kraÄe ukupno vrijeme spavanja (TST) p=0,004, nižu efikasnost spavanja (SE) p=0,010, manje NREM1 faze spavanja p=0,0002, manje NREM3 faze spavanja p=0,034, manje REM spavanja p= 0,034 (na raÄun viÅ”e povrÅ”nog NREM2 spavanja, ali ne statistiÄki znaÄajno, p=0,069) i da provode viÅ”e vremena budni nakon zapoÄimanja spavanja (p=0,0002). Djeca s Downovim sindromom imaju znaÄajno viÅ”e opstruktivnih apneja i hipopneja po satu spavanja (viÅ”i OAHI) p=0,008, ali imaju manje centralnih apneja po satu spavanja (niži CAI) p=0,041, Å”to pridonosi statistiÄki neznaÄajno nižem ukupnom AHI-u (p=0,762) u djece s Downovim sindromom. ProsjeÄno i najdulje trajanje apneja nije se znaÄajno razlikovalo izmeÄu dviju skupina. Djeca s Downovim sindromom su imala znaÄajno niže i prosjeÄne i nadir saturacije kisika (p=0,008 i p=0,001). ZakljuÄak: Možemo prevenirati veÄinu respiratornih komplikacija u djece s Downovim sindromom podizanjem svjesnosti njihovih roditelja o poremeÄajima spavanja u te djece, ali i zdravstvenih djelatnika, te ukljuÄivanjem rutinske cjelonoÄne videopolisomnografije u njihovo praÄenje