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Cilj: Primarni cilj ovog randomiziranog, dvostruko slijepog, placebom kontroliranog istraživanja s ukriženim ustrojem bio je ispitati akutne učinke tri doze kofeina (2, 4, i 6 mg/kg) na izvedbu balističkih pokreta, jakost i mišićnu izdržljivost mišića gornjeg i donjeg dijela tijela kod muškaraca iskusnih u treningu s otporom. Sekundarni cilj bio je usporediti akutne učinke navedenih doza kofeina između osoba s niskim (≤100 mg/dan) i umjereno do visokim (>100 mg/dan) habitualnim unosom kofeina. Metode: Testovima bacanje medicinke iz sjeda i vertikalni objenožni skok procijenjena je izvedba balističkih pokreta, testovima jednog maksimalnog ponavljanja (1 repetition maximum, 1RM) u potisku s ravne klupe i stražnjem čučnju procijenjena je jakost, a testovima maksimalnog broja ponavljanja (s 60% 1RM) do trenutnog mišićnog otkaza u potisku s ravne klupe i stražnjem čučnju procijenjena je mišićna izdržljivost. Uzorak ispitanika varirao je kroz testove između n=20 (dob (AS ± SD): 25 ± 5 god) i n=28 (dob (AS ± SD): 25 ± 6 god). Svi testovi provedeni su u četiri različita dolaska kroz četiri uvjeta: konzumacija placeba, 2, 4 i 6 mg/kg kofeina 60 minuta prije početka testiranja. Habitualni unos kofeina sudionika u istraživanju procijenjen je korištenjem upitnika. Rezultati: Značajno poboljšanje izvedbe bacanja medicinke iz sjeda u odnosu na placebo uočeno je samo za dozu kofeina od 6 mg/kg, dok je kod vertikalnog objenožnog skoka značajno poboljšanje uočeno za sve 3 doze (2, 4 i 6 mg/kg) kofeina. U usporedbi s placebom, doza od 2 mg/kg kofeina pokazala se učinkovitom za poboljšanje jakosti mišića donjeg dijela tijela, a sve tri doze kofeina poboljšale su mišićnu izdržljivost mišića donjeg dijela tijela. Za mišićnu jakost i mišićnu izdržljivost mišića gornjeg dijela tijela nisu uočeni značajni učinci kofeina u pogledu poboljšanja izvedbe. Usporedba akutnih učinaka kofeina na tjelesnu izvedbu između dvije skupine habitualnih konzumenata kofeina nije ukazala na značajne razlike u izvedbi ni u jednom provedenom testu. Zaključak: Konzumacija kofeina može akutno poboljšati izvedbu balističkih pokreta mišića gornjeg i donjeg dijela tijela kao i jakost i mišićnu izdržljivost mišića donjeg dijela tijela u osoba iskusnih u treningu s otporom. Akutni učinak kofeina je, čini se, naglašeniji kod izvedbe vježbi koje uključuju mišiće donjeg naspram gornjeg dijela tijela. Opažene su velike varijacije između ispitanika u odgovorima na kofein. Habitualna konzumacija kofeina, čini se, nema utjecaj na akutne učinke kofeina na tjelesnu izvedbu, iako ovaj nalaz traži potvrdu u budućim istraživanjima. Purpose: The primary aim of this randomized, double-blind, placebo-controlled, crossover study was to examine the acute effects of three doses of caffeine (2, 4, 6 mg/kg) on upper- and lower-body ballistic exercise performance, strength, and muscular endurance in a sample of resistance-trained men. The secondary aim was to compare the acute effects of the mentioned caffeine doses among low (≤100 mg/day) vs. moderate to high (>100 mg/day) habitual caffeine users. Methods: Seated medicine ball throw and vertical jump tests were used to assess the performance of ballistic exercise, tests of one maximum repetition (1 repetition maximum, 1RM) in bench press and back squat tests were used to assess strength, and tests of maximum number of repetitions (with 60% 1RM) until momentary muscular failure in bench press and back squat used to assess muscular endurance. The sample of the participants varied through tests between n= 20 (age (mean ± SD): 25 ± 5 y) and n= 28 (age (mean ± SD): 25 ± 6 y). All tests were performed during four separate sessions under four conditions: placebo, 2, 4, and 6 mg/kg of caffeine ingested 60 minutes prior to testing. Habitual caffeine intake was evaluated using a standardized questionnaire. Results: Analysis of ballistic exercise performance indicated that, compared to placebo, significant improvement in seated medicine ball throw test was evident only with a 6 mg/kg dose of caffeine. However, all three doses (2, 4, and 6 mg/kg) of caffeine were ergogenic for the vertical jump performance. Compared to placebo, a dose of 2 mg/kg caffeine was shown to be effective in improving lower-body muscular strength, and all three doses of caffeine improved lower-body muscular endurance. For upper-body muscular strength and muscular endurance, no significant effects of caffeine on performance were found (compared to placebo). Comparison between the two groups of habitual caffeine users indicated no differences in performance following acute caffeine ingestion. Conclusion: Caffeine ingestion may acutely enhance upper- and lower-body ballistic exercise performance as well as lower-body muscular strength and muscular endurance in resistance-trained men. The acute effect of caffeine seems to be generally more pronounced for the lower-body exercises as compared to the exercises involving the upper body. Large inter-individual variations in responses to caffeine were observed. Habitual caffeine intake does not seem to affect the acute effects of caffeine on exercise performance, although this needs confirmation in future studies.

Primarni cilj istraživanja je usporediti akutne učinke tri različite doze kofeina (2, 4, i 6 mg/kg) na mišićnu jakost u izvedbi stražnjeg čučnja kod dvije skupine ispitanika podijeljenih po razini treniranosti – umjereno i visoko treniranih.

Supplemental Material for Drawn aligned polymer microfibres for tissue engineering by Kateřina Strnadová, Lukáš Stanislav, Ilona Krabicová, Filip Sabol, Jan Lukášek, Michal Řezanka, David Lukáš and Věra Jenčová in Journal of Industrial Textiles

PURPOSE: To examine the acute effects of three doses of caffeine on upper- and lower-body ballistic exercise performance, and to explore if habitual caffeine intake impacts the acute effects of caffeine ingestion on ballistic exercise performance. METHODS: Twenty recreationally active male participants completed medicine ball throw and vertical jump tests under four experimental conditions (placebo, 2, 4, and 6 mg·kg-1 of caffeine). RESULTS: One-way repeated measures ANOVA with subsequent post hoc analyses indicated that performance in the medicine ball throw test improved, compared to placebo, only with a 6 mg·kg-1 dose of caffeine (P=0.032). Effect size, calculated as the mean difference between the two measurements divided by the pooled standard deviation, amounted to 0.29 (+3.7%). For the vertical jump test, all three caffeine doses were effective (compared to placebo) for acute increases in performance (P values ranged from 0.022 to 0.044 ; effect sizes from 0.35 to 0.42 ; percent changes from +3.7% to +4.1%). A two-way repeated measures ANOVA indicated that there was no significant group x condition interaction effect, suggesting comparable responses between low (≤100 mg·day-1) and moderate-to-high (>100 mg·day-1) caffeine users to the experimental conditions. CONCLUSIONS: Caffeine doses of 2, 4, and 6 mg·kg-1 seem to be effective for acute enhancements in lower- body ballistic exercise performance in recreationally trained male individuals. For the upper-body ballistic exercise performance, only a caffeine dose of 6 mg·kg-1 seems to be effective. The acute effects of caffeine ingestion do not seem to be impacted by habitual caffeine intake ; however, this requires further exploration.

Konzumacija kofeina je, osim među općom populacijom, veoma popularna i u sportu (naročito nakon ukidanja zabrane korištenja kofeina u sportskim natjecanjima 2004. godine) (Del Coso i sur., 2011). Doze kofeina od 2, 4 i 6 mg/kg čini se da su učinkovite za akutna poboljšanja u izvedbi bilateralnog vertikalnog skoka za populaciju zdravih, tjelesno aktivnih muškaraca i preporučuje se korištenje suplementacije kofeinom 60 minuta prije aktivnosti za poboljšanje izvedbe vertikalnog skoka.

Tjelesna neaktivnost je golem i rastući problem današnjice zbog brojnih negativnih posljedica na ljudsko zdravlje. Tjelesno zdravlje jedna je od ključnih komponenti za definiranje zdravlja čovjeka, a tjelesna aktivnost i tjelesno vježbanje neizostavne su sastavnice tjelesnog zdravlja. Istraživanja pokazuju da za značajnije zdravstvene benefite tjelesna aktivnost nije dovoljna već je potrebno provoditi sustavno tjelesno vježbanje. Fitness Index™ je specijalizirani protokol koji pomaže liječnicima i fitnes stručnjacima u dijagnostici, davanju smjernica i praćenju procesa vježbanja s ciljem unaprjeđenja zdravstvenog statusa pojedinca i zajednice. Cilj je implementacijom FI podići kvalitetu usluge za sve dionike procesa te unaprijediti razinu zdravlja populacije.

Implementiranjem smjernica za suradnju s liječnicima fitnes stručnjaci bit će u mogućnosti pružiti veću razinu usluge i izgraditi povjerenja te surađivati s profesionalcima zdravstvene skrbi u lokalnoj zajednici. Navedenom suradnjom najviše će profitirati pacijenti kojima će biti pružena dodatna zdravstvena usluga - usluga koja je trenutno najbolji lijek na tržištu.

Nogomet je najpopularniji sport na planetu. Utjecaj znanosti u sportu sve je veći te se traže najefikasniji programi koji će olakšati rad trenerima, a igračima omogućiti veću razinu izvedbe. Igre na skraćenom prostoru često su korišten sadržaj u nogometnim trenažnim programima, ali zbog raznovrsnih protokola njihova efikasnost nije jasno definirana. Od nogometa se razlikuju površinom terena, brojem igrača, pravilima igre itd. Glavni cilj ovog rada je prikazati učinke treninga igara na skraćenom prostoru na kondicijske sposobnosti. Pregledom literature prikupljeno je devet članaka koji su odgovarali zadanom kriteriju. Istraživanja su pokazala da rezultati zavise o korištenom protokolu te sukladno tome mogu služiti za razvoj ili održavanje funkcionalnih i motoričkih sposobnosti te tehničkih i taktičkih znanja. Za bolje razumijevanje igara na skraćenom prostoru, njihov utjecaj na kondicijske sposobnosti te konkretne preporuke za rad potrebna su daljnja istraživanja i standardizirani protokoli. Football is the most popular sport on planet. Science has a growing impact on sport and the goal is to find programs that will help coaches, as well as improve players performance. Small sided games (SSG) are often used in football training, but the absence of standardized protocols is the reason why their effectiveness is not clear. Difference between SSG and football is in pitch area, number of players, rules of play etc. The aim of this work is to present SSG training impact on fitness. Search ended with nine studies that matched the criteria. Studies showed that results depend of the used protocol. Based on that, SSG can be used for developing or maintaining strength and conditioning capabilites, as well as technical and tactical skills. To improve understanding of SSG, their impact on fitness and to be able to give accurate recommendation, future research with standardized protocols needs to be done.

The purpose of this study was to determine the opinions of active seniors about the importance of physical activity in their age, gender differences and to determine a correlation between age and disease as well as a correlation between education level and perception of the importance of physical activity. The data were collected via questionnaire. The total number of participants was 130, out of which 11 male (8.5%) and 119 female (91.5%) subjects age 65 to 92 (M = 74.91 ; SD = 5.94). Analyzed variables include basic socio-demographic characteristics (age, gender, educational level, year of active involvement in PA), variables of perception of exercise importance, list of diseases and quality of life variables. The data were statistically processed and descriptive statistics, independent sample t-test and correlation analysis were used. All respondents consider that PA for their age is important and that PA exerts their own health. It is considered by 31.3% of the respondents that the physiotherapy is sufficient to improve the condition of the injury, while 68.8% disagrees with this statement. 93.6% of participants believe that PA can prevent often doctor visits. 30% of subjects highlighted the various positive influences that physical activity has on physical health, and 29.2% of them highlighted the socialization and psychological benefits that they feel as a result of physical activity. Gender differences have not been established. The correlation between the age and diabetes type II and osteoporosis was established. Regarding diabetes type II, a statistically significant low positive correlation (r = 0.213 ; p

Purpose: Childhood absence epilepsy (CAE ) typically starts between four and seven years of age. Onset before four years is rare, and children with onset in first year of life are considered almost exceptional. Methods: We report the clinical and electrophysiologic features with follow -up of 11 children with typical absence epilepsy with range of onset from 6 months to 3, 6 years (mean age of seizure onset 26 months), 9 girls and 2 boys. Results: All patient had episodes of unresponsiveness associated with bilaterally synchronous spikeand-wave discharges at 3 Hz with a normal background on EEG. Brain CT/MR was done in 9/11 patient, 7 was normal, one showed arachnoid cyst and one poreencephalic cysts. Eight of 11 patient had normal neurodevelopment, one had cerebral palsy, and two speech delay with ADHD. Seven pateints were seizure-fee (EEG normal) with initial monotherapy with valproic acid (VPA). In 1 patients first therapy was ethosuximide and in two lamotrigine without efect. Therapy was changed in VPA and from that moment there are seizure -free with normal EEG .In girl with Dravet syndrome presented with absence combinated with other types of seizures therapy with VPA was unsuccesful. One patient still had absence seizures with multiple AEDs (genetic evaluation of SLC2A1gene was negative). The youngest patient (onset of seizure -6 months) is seizure free for 3 years after medication withdrawal without neurodevelopmental delay. Conclusion: In our pateients absence seizures presenting before the age of 4 appeared to have quite a good long-term clinical prognosis, the neuropsychological outcome was comparable to that of childhood typical absence epilepsy presenting after 4 years of age. The exceptions are patients with absence seizure associated with other forms of attacks.

Objective Neurofibromatosis 1 (NF1) is autosomal dominant inherited disorder often difficult to diagnose in children besause of its age-dependent presentation. The early diagnosis using National Intitutes of Health (so called NIH-criteria) cannot be made on the basis of routine clinical and ophthalmological examinations in all children, especially in patients of early age and in sporadic cases. T2-hyperintensities on brain MRI has been suggested as a new diagnostic sign. The aim of this study was to compare the degree of diagnostic accuracy T2-hyperintensity versus diagnostic accuracy NIH diagnostic changes. Methods We performed a cross-sectional study of 162 children with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI during twenty year period. In this study we used the basic reference standard – NIH diagnostic criteria for NF1 to determine or exclude a definitive clinical diagnosis of NF1. Results Multiple T2- hyperintensities on brain MRI had excellent diagnostic accuracy with the area under the ROC curve of 0.849, estimated on the whole group subjects aged 2–18 years. The diagnostic accuracy of T2-hyperintensities for NF1 were highest in the youngest age (2–8 years). At that age diagnostic accuracy of multiple T2-hyperintensities was significantly higher than diagnostic accuracy of majority of NIH-diagnostic signs – neurofibromas, freckling in the axillary or inguinal region, Lisch nodules, optic gliomas, a distinctive osseous lesions (p

MASA syndrome (OMIM 303350) is a rare X-linked recessive neurologic disorder, also called CRASH syndrome, spastic paraplegia 1 andGareis-Mason syndrome. The acronym MASA describes four major signs: Mental retardation, Aphasia, Shuffl ing gait and Adductedthumbs. A more suitable name for this syndrome is L1 syndrome because the disorder has been associated with mutations in theneuronal cell adhesion molecule L1 (L1CAM) gene. The syndrome has severe symptoms in males, while females are carriers becauseonly one X chromosome is aff ected. The aim of this report is to show similarities and diff erences in clinical manifestations betweentwins with the L1CAM gene mutation and to emphasize the importance of genetic counseling. Our patients were dizygotic twins bornprematurely at 35 weeks of gestation. Pregnancy was complicated with early bleeding and gestational diabetes. Immediately afterbirth, hypertonia of lower extremities was observed in both twins. Sixteen-year clinical follow up showed spastic paraparetic form withshuffl ing gait, clumsiness, delayed speech development, lower intellectual functioning at the level of mild to moderate mental retardation, primary nocturnal enuresis, behavioral and sleep disorder (more pronounced in the second twin). Magnetic resonance imagingof the brain showed complete agenesis of the corpus callosum, complete lack of the anterior commissure, and internal hydrocephalus.Electroencephalograms showed nonspecifi c slower dysrhythmic changes. Kidney ultrasound showed mild dilatation in the channelsystem of both kidneys in both twins. Ophthalmologic examination was normal. Molecular genetic testing identifi ed homozygousintron 26 L1CAM gene IVS26-12G→A mutation in both twins. The mother is carrier of the same heterozygous mutations. In conclusion, our patients, fraternal twins, show similar clinical changes typical of the MASA syndrome. After identifying the specifi c geneticmutations, this family has become eligible for genetic counseling and informative for prenatal diagnosis.

Objavljeni rad nema izvornog sažetka. U radu se obrađuje tematika razvoja analitičke psihodrame s naglaskom na razvoj analitičke psihodrame na Klinici za psihološku medicinu, Klinički bolnički centar Zagreb

Neurofibromatoza tip 1 jedan je od najčešćih autosomno dominantnih poremećaja u čovjeka. Gen NF1 je veliki i složen gen, lokaliziran na kromosomu 17q11.2. Danas su u upotrebi brojne tehnike suvremene analize DNA kojima je moguće utvrditi specifične promjene gena NF1. Klinička dijagnoza neurofibromatoze tip 1 temelji se na NIH-dijagnostičkim kriterijima. Za djecu s neurofibromatozom tip 1 glavni aspekt interdisciplinarne zdravstvene zaštite je pravodobno otkrivanje i nadzor lječivih komplikacija bolesti. Za longitudinalno praćenje razvoja dobno ovisnih znakova i komplikacija neurofibromatoze tip 1, preporučeni protokol za dijagnozu i praćenje djece s neurofibromatozom tip 1 uključuje godišnji pregled sljedećih aspekata bolesti: genetičko savjetovanje – u vrijeme dijagnoze ; povijest bolesti, tjelesni i neurološki pregled: opći razvoj (neuromotorni/kognitivni, govorno-jezični), dermatološki (pjege café au lait, pjegavost, kutani/subkutani i pleksiformni neurofibromi), koštani sustav (psedoartroza, skolioza), očni poremećaji, praćenje rasta (niski rast, makrokranija), pubertetski razvoj (zakašnjeli/preuranjeni pubertet), mjerenje krvnog tlaka (stenoza renalne arterije) – godišnje ; kardiološki pregled (prirođena srčana mana) – u vrijeme dijagnoze ; oftalmološki pregled (oštrina vida, funduskopija, širina vidnog polja, tonometrija, ultrazvuk oka i orbita, pregled na Lischove nodule) – godišnje ; magnetna rezonancija mozga – u vrijeme dijagnoze >2 godine, češće u slučaju prisutnosti simptoma i znakova ; elektroencefalogram – u vrijeme dijagnoze, poslije prema kliničkoj indikaciji ; ultrazvuk abdomena (abdominalna neurofibromatoza) – svakih 5 godina ; magnetska rezonancija cijele kralježnice – u dobi od 15 godina ; molekularna DNA testiranja (analiza genske povezanosti za familijarni oblik neurofibromatoze tip 1, određivanje patogene genske mutacije za sporadične slučajeve). Djecu s neurofibromatozom tip 1 trebao bi jedan put na godinu pregledati specijalist koji dobro poznaje neurofibromatoze, uz postizanje dobre suradnje s njihovim pedijatrom ili obiteljskim liječnikom. Liječenje komplikacija neurofibromatoze tip 1 je simptomatsko.

UVOD:Gelastic epilepsija (od grč. riječi gelos – smijeh) je rijedak oblik epilepsije karakteriziran napadajima smijeha koji mogu slijediti toničko klonički grčevi ili gubitak posturalnog tonusa. Incidencija je 0, 1% oboljelih od epilepsije, javlja se dvostruko češće u muških bolesnika. Najčešće započinje u ranom djetinjstvu, obično oko 2-3 godine i često dugo vremena ostaje neprepoznata kao cerebralni napadaj. Ishodište ovog tipa epilepsije mogu biti lezije frontalnog režnja, atrofija, tuberozna skleroza, hemangiomi, ali najčešće hipotalamički hamartomi. Bolest ima progresivan tijek, često praćena endokrinološkim, bihevioralnim i kognitivnim odstupanjima. BOLESNICI I METODE: U radu prikazujemo tri bolesnika s gelastic epilepsijom koje prospektivno pratimo. Prva bolesnica, sada u dobi 10 godina, od prvih dana po rođenju imala je napadaje smijeha u trajanju oko 15-tak sekundi, praćene crvenilom ili blagom cijanozom lica i mljackanjem. EEG je pokazivao obostrane žarišne disritmičke promjene parijetotemporalno. Napadaji su recidivirali svakodnevno i do detak puta, unatoč antiepilepsijskoj terapiji (karbamazepin, vigabatrin, lamotrigine, levetiracetam). Na pregledu magnetnom rezonancijom mozga dijagnosticiran je hipotalamički hamartom. Djevojčica je usporenog kognitivnog i govornog razvoja. U dobi 8 godina i 9 mjeseci djevojčica je bila u vanjskoj ustanovi podvrgnuta stereotaktičkom kirirškom zahvatu nakon kojeg se broj napadaj značajno smanjio na jedan ili dva tjedno. Drugi bolesnik je dječak u dobi 5.5 godina u kojeg su napadaji smijeha uz midrijazu i fleksijski spazam desne strane tijela zamjećeni od dobi 2 godine. Kliničkom obradom u dječaka nisu nađena endokrinološka niti kognitivna odstupanja.EEG uredan. Na MR-u mozga dijagnosticiran je hipotalamički hamartom. Na terapiju s topiramatom došlo je do povećanja broja napadaja, a na terapiju levetiracetamom napadaji su se prorijedili, kratkotrajni. Treći bolesnik je lako mentalno zaostao 12-godišnji dječak koji je u ranom novorođenačkom periodu bolovao od sepse i gnojnog meningitisa uzrokovanog sa BHS-B, a u kojeg se od 10. godine javljaju atake „bezrazložnog smijanja“ u trajanju do 1 minute, više puta tijekom dana. EEG je pokazivao žarišne promjene desno temporookcipitalno. Na MR-u mozga nađena je blaža ventrikulomegalija okcipitalnih rogova lateralnih klijetki, cavum septi pelucidi te multipli T2-hiperintenziteti perivenhtrikularno obostrano. Na liječenje s karbamazepinom broj napadaja smijeha se značajno prorijedio, sada se javljaju svakih nekoliko dana. ZAKLJUČAK: U dva od tri naša bolesnika gelastic epilepsija bila je uzrokovana hipotalamičkim hamartomom, a u trećeg ranim oštećenjem mozga uzrokovanog meningitisom. Dijagnoza epilepsije postavljena je na temelju karakterističnog kliničkog ispoljavanja – napadajima bezrazložnog smijeha, specifičnim EEG-promjenama te nalazima MR-a mozga. U većini slučajeva terapija izbora ove epilepsije je kirurško liječenje koje se odgađa dobro odabranom medikamentoznom antiepilepsijkom terapijom.

Neurofibromatoza tip 2 neurokutana je bolest s autosomno dominantnim načinom nasljeđivanja. Gen NF2 tumorski je supresorski gen, lokaliziran na kromosomu 22q12.1 i kodira protein merlin ili švanomin. Karakteristične promjene u NF-u 2 su švanomi kranijalnih živaca (obično bilateralno zahvaćaju VIII. kranijalni živac), spinalnih i perifernih živaca, multipli meningeomi, ependimomi te oftalmološke promjene (presenilne katarakte). Početak simptoma NF-a 2 javlja se u drugom ili trećem desetljeću života. U oko 10% i 18% bolesnika simptomi se počinju javljati u dobi prije 10. odnosno 15. godine. Danas postoje dobro usuglašeni kriteriji za dijagnosticiranje NF-2 i protokoli za prospektivno praćenje bolesnika, suspektnih i rizičnih osoba za NF 2. Bolesnike s NF-2 trebao bi periodički evaluirati multidisciplinski liječnički tim koji je dobro upoznat s prirodom bolesti. Longitudinalna zdravstvena skrb uključuje: detaljnu anamnezu/genetičko savjetovanje/DNA testiranje (u vrijeme dijagnoze) ; kliničku dermatološku, neurološku i oftalmološku procjenu (jedan put na godinu) ; audiološka ispitivanja s audiometrijom i ranim evociranim slušnim potencijalima moždanog debla (svake godine) ; MR mozga i cijele kralježničke moždine (svake godine). Kliničko praćenje u članova obitelji prvog krvnog srodstva bolesnika s NF-2 (osobe s rizikom za NF 2) uključuje: oftalmološki pregled u prve dvije godine života (za asimptomske kongenitalne katarakte) ; DNA analizu, neurološku, oftalmološku i audiološku procjenu do adolescencije ; svakako MR mozga i cijele kralježnice u dobi od 15 i 30 godina. U slučaju da su rezultati pretraga normalni, može se prestati s probirom. Najvažniji vid liječenja komplikacija NF-2 je kirurško uklanjanje simptomskih tumora. Švanomatoza je treći oblik neurofibromatoze koju karakteriziraju multipli švanomi, ali nikad bilateralni vestibularni švanomi. Gen za švanomatozu, INI1/SMARCB1, lokaliziran je na kromosomu 22, blizu gena za NF2. U patogenezi bolesti najvjerojatniju ulogu imaju i gen INI1/SMARCB1 i gen NF2 te drugi još nepoznati geni. Bolest se klinički počinje ispoljavati u mlađoj odrasloj dobi.

Benign paroxysmal transitory torticolis (BPT) is a disorder which manifests with repetitive episodes of abnormal rotations and head leaning on one side (torticolis) often associated with asymetric posturing (tortipelvis), contraction of muscles on the back side of neck (retrocolis) or generalized hypotonia. Attacks always begin in infant period and last for several hours or days (and up to two weeks). They are repeated themselves in weekly or monthly intervals. Prognosis of BPT is favourable and attacks spontaneously disappear till the school age. Our patients: During the period of fifteen years (1993 – 2008.g.) in our clinics we diagnosed and surveyed clinically 13 children with BPT (7 boys, 6 girls). Most children were referred to the initial neuropediatric evaluation under the suspicion of convulsive/epileptic seizures. Clinical expression of BPT in our patients was typical, without loss of consciousness. EEG findings in all children were normal, and they had normal psychomotor development. Average age of first BPT attacks was 5 months. Frequency of attacks was from 1 to 41 in different intervals and duration of attacks from 1-2 minutes up to 7 day. In one boy BPT attacks first were diagnosed in another hospital as epileptic – partial complex seizures and he was treated unsuccessfully with phenobarbital. The boy is now at the age of 6 years and 8 months , he still suffers from rare attacks of torticolis in duration of couple hours which are accompanied by intensive headaches with vomiting and general prostration that points to the relationship between BPT and migrene. Diagnosing of BPT as the paroxysmal non-epileptic disorder in infants and children is based on clinical features of attack (preserved consciousness, lack of tonic or tonic/clonic seizures), duration of attacks up to several days (weeks) and normal finding of ictal and interictal EEG.

UVOD: Benigni paroksizmalni tortikolis (BPT) je poremećaj koji se manifestira ponavljajućim epizodama abnormalne rotacije i naginjanja glave na jednu stranu (tortikolis), nerijetko praćenu asimetričnim držanjem – savijanjem trupa prema istoj strani (tortipelvis), kontrakcijom muskulature stražnje strane vrata (retrocolis) ili generaliziranom hipotonijom. Atake uvijek počinju u dojenačkom periodu, traju nekoliko sati do nekoliko dana (i do dva tjedna). Ponavljaju se u tjednim ili mjesečnim razmacima. Prognoza BPT je dobra, napadaji spontano nestaju do školske dobi. ISPITANICI I METODE: U petnaestogodišnjem periodu (1993 – 2008.g.) u našim ustanovama dijagnosticirali smo i klinički pratili 10 djece s BPT (4 dječaka, 6 djevojčica). Većina djece bila je upućena na inicijalnu neuropedijatrijsku procjenu pod sumnjom na konvulzivne / epilepsijske napadaje: REZULTATI: Kliničko ispoljavanje BPT u naših bolesnika bilo je tipično, bez gubitka svijesti. U prvih bolesnika zbog heteroanamnestičkih podataka o atakama koje su za roditelje bile dramatične razmatrali smo i mogućnost epilepsijskih napadaja, a koje smo isključili u tijeku kliničkog praćenja. EEG nalazi u budnosti i spavanju u svih ispitanika bili su uredni ili pokazivali nespecifične promjene. Sva djeca imala su uredan psihomotorni razvoj. Srednja dob početka prvih ataka BPT bila je 5 mjeseci (raspon od 2 mjeseca do 14 mjeseci). Učestalost ataka kretala se od 1 atake do 41 , u različitim intervalima, a trajanje ataka od 1-2 minute do 7 dana. U jednog dječaka kojeg pratimo 5 godina i 7 mjeseci, atake BPT u drugoj ustanovi dijagnosticirane su kao epilepsijske – parcijalne kompleksne krize i liječen je Phemitonom. Dječak je sada u dobi 6 godina i 8 mjeseci, još uvijek ima rijetke atake tortikolisa u trajanju više sati koje su praćene intenzivnim glavoboljama uz povraćanje i opću prostriranost što upućuje na povezanost BPT i migrene. Isti bolesnik također potvrđuje pojavu migrene u više članova obitelji (majka dječaka od djetinjstva pati od učestalih migrena). ZAKLJUČAK: Dijagnosticiranje BPT kao paroksizmalnog neepilepsijskog (nekonvulzivnog) poremećaja u dojenčadi i male djece temelji se na kliničkoj slici napadaja (očuvana svijest, odsustvo toničkih i/ili toničko kloničkih grčeva ), duljini trajanja i do nekoliko dana (tjedana) te normalnog nalaza iktalnog i interiktalnog EEG-a. INTRODUCTION: Benign paroxysmal transitory torticolis (BPT) is a disorder which manifests with repetitive episodes of abnormal rotations and head leaning on one side (torticolis) often associated with asymetric posturing – body bending towards the same side (tortipelvis), contraction of muscles on the back side of neck (retrocolis) or generalized hypotonia. Attacks always begin in infant period and last for several hours or days (and up to two weeks). They are repeated themselves in weekly or monthly intervals. Prognosis of BPT is favourable and attacks spontaneously disappear till the school age. METHODS: During the period of fifteen years (1993 – 2008.g.) in our clinics we diagnosed and surveyed clinically 10 children with BPT ( 4 boys, 6 girls). Most children were referred to the initial neuropediatric evaluation under the suspicion of convulsive/epileptic seizures. RESULTS: Clinical expression of BPT in our patients was typical, without loss of consciousness. In the first patients we have considered the possibility of epileptic seizures because of heteroanamnestic data from the parents about the dramatic attacks, and we excluded it during the clinical follow-up. EEG findings during wake and sleep were normal in all children showing only some non-specific changes. All children had normal psychomotor development. Average age at the time of the beginning of first BPT attacks was 5 months (range from 2 month to 14 month ). Frequency of attacks was from 1 to 41 in different intervals and duration of attacks from 1-2 minutes up to 7 day. In one boy which we are following 5 years and 7 months, BPT attacks were diagnosed in another hospital as epileptic – partial complex seizures and he was treated with phenobarbital (Phemiton). The boy is now at the age of 6 years and 8 months , he still suffers from rare attacks of torticolis in duration of couple hours which are accompanied by intensive headaches with vomiting and general prostration that points to the relationship between BPT and migrene. The same patient also confirms the existence of migrene in several relatives (boy's mother suffers from the childhood from frequent migrene). CONCLUSION: Diagnosing of BPT as the paroxysmal non-epileptic (nonconvulsive) disorder in infants and children is based on clinical features of attack (preserved consciousness, lack of tonic or tonic/clonic seizures), duration of attacks up to several days (weeks) and normal finding of ictal and interictal EEG.