bluuebunny/crossref_metadata_2025 huggingface dataset:
diagnosis
Authors: Roić Goran , Roić Andrea Cvitković , Grmoja Tonći , Posarić Vesna , Marijanović Josip , Miletić Damir , Palčić Iva
Published: November 2024

Vezikoureteralni refl uks (VUR) često se dijagnosticira u djece i može biti povezan s refl uksnom nefropatijom (RN). Neki bolesnici sRN-om razviju kroničnu bolest bubrega, hipertenziju, a u malog broja bolsnika bolest progredira do kronične renalne insufi cijencije.Identifi kacija bolesnika s ovim kliničkim karakteristikama cilj je kliničke, biokemijske kao i radiološke procjene djece s prenatalnodijagnosticiranom hidronefrozom ili febrilnom infekcijom mokraćnog sustava. Cilj slikovnih dijagnostičkih postupaka je postavljanje dijagnoze s visokim stupnjem osjetljivosti i specifi čnosti, kako bi se započelo ispravno liječenje i odredila prognoza. Dijagnostikavezikoureteralnog refl uksa (VUR) relativno je jednostavan i dobro utvrđeni postupak. Sve je viša svijest o potencijalnim štetnimučincima izloženosti radijaciji kod nekih dijagnostičkih postupaka kao i invazivnosti dijagnostike VUR-a, što može biti neugodnoiskustvo za djecu i roditelje. Slijedom navedenog, imperativ za dječjeg radiologa, zajedno s pedijatrijskim urologom i nefrologom,reevaluacija je indikacija i ciljeva u dijagnostici VUR-a, redefi niranje dijagnostičkih slikovnih metoda koje se primjenjuju za postavljanje dijagnoze i praćenje. U članku se analiziraju današnje slikovne metode koje se primjenjuju u dijagnostici VUR-a, njihove karakteristike, prednosti i nedostatci.
Perinatalno zbrinjavanje novorođenčeta s rascjepom neuralne cijevi: prikaz bolesnika
Authors: Zakanj Zora , Šegović Igor , Zahariev Venera
Published: November 2024

Defekti neuralne cijevi najčešće su prirođene anomalije središnjeg živčanog sustava. Najteži oblik defekta neuralne cijevi je meningomijelokela. Ova anomalija nastaje zbog poremećaja u spontanom zatvaranju neuralne cijevi između 3. i 4. tjedna intrauterinogživota. Točan uzrok je nepoznat, iako se sumnja na mnoge čimbenike: hipertermija, lijekovi, malnutricija, majčina debljina, šećernabolest, nedostatak folne kiseline. Očituje se kao vrećasta cistična struktura pokrivena tankim slojem epiteliziranog tkiva. Može seprevenirati majčinim uzimanjem folne kiseline u perikoncepcijskom razdoblju. U ovom radu prikazali smo perinatalno zbrinjavanjelumbosakralne meningomijelokele u novorođenčeta, udružene s hidrocefalusom i Chiari II. malformacijom.
Primjena forenzične DNA analize: interdisciplinarna perspektiva
Authors: Projić Petar , Lauc Gordan , Primorac Dragan
Published: November 2024

DNA analiza danas nedvojbeno ima nezamjenjivu ulogu u sveukupnim forenzičnim znanostima. Otkriće i primjena molekularnihSTR biljega značajno je unaprijedila forenzičnu DNA analizu. Najbolje ispitivani i najčešće uključivani u analize individualne i populacijske raznolikosti su tetranukleotidni STR biljezi.Uporaba SNP molekularnih biljega jedan je od novijih pristupa u populacijsko-genetičkim studijama, medicinskoj dijagnostici i testiranju identiteta. Najveći dio SNP-ova sastavni je dio nekodirajućeg dijela genoma, pa se smatra da su selektivno neutralni. Ipak,postoji određeni broj SNP-ova smještenih u kodirajućoj regiji genoma (cSNP) i oni mogu utjecati na razvoj različitih multifaktorskihbolesti. Za razliku od autosomnih biljega koji variraju kroz generacije, Y-vezani i mitohondrijski biljezi prolaze kroz generacijske barijere neizmijenjeni (u odsutnosti mutacija), zbog čega se često primjenjuju u populacijskoj, humanoj i forenzičnoj genetici zapraćenje roditeljskih linija. Kromosom Y ima važnu ulogu u slučajevima silovanja te kod utvrđivanja migracije pojedinih naroda.Razvojem molekularnih metoda proteklih godina uloga DNA analize u animalnoj i biljnoj forenzici postala je vrlo značajna. Brojsudskih predmeta u kojima su kao dokazi primjenjivani tragovi životinjskog i biljnog podrijetla značajno je porastao. DNA tehnologija također ima vrlo važnu ulogu u identifi kaciji mikroorganizama koje je moguće upotrijebiti radi bioterorističkog napada. Primjena utvrđivanja identiteta analizom DNA posebno je važna kod otkrivanja žrtava trgovine ljudima, žrtava seksualnog i radnogiskorištavanja te suzbijanja nezakonitih useljavanja i nezakonitih posvojenja. Najnoviji trend u području forenzične genetike je DNAfenotipizacija. Primjenom SNP biljega u procesu genotipizacije pokušavaju se predvidjeti pojedine fenotipske karakteristike, poputboje kože, očiju, kose i sl., radi utvrđivanja identiteta posmrtnih ostataka ili individualizacije osobe koja je ostavila biološki trag
Novorođenački skrining u Hrvatskoj i u svijetu
Authors: Ramadža Danijela Petković , Sarnavka Vladimir , Škaričić Ana , Fumić Ksenija , Barić Ivo
Published: November 2024

Novorođenački skrining je vitalni dio zdravstvene zaštite novorođenčadi i provodi se radi ranog otkrivanja prirođenih bolesti i sasvrhom što ranijeg početka liječenja i sprečavanja trajnih i nepopravljivih posljedica za život i zdravlje djeteta. U Republici Hrvatskojse skrining na fenilketonuriju i konatalnu hipotireozu provodi centralizirano, i to s vrlo dobrim rezultatima, u Laboratoriju zanovorođenački skrining Klinike za pedijatriju, Kliničkog bolničkog centra Zagreb. Prije dvadesetak godina razvijena je, a posljednjedesetljeće je u svijetu šire dostupna tehnologija tandemske spektrometrije masa kojom se iz malog uzorka krvi u kratkom vremenumogu analizirati metaboliti karakteristični za više od 50 bolesti. Navedena tehnologija je postala standard za provođenje takozvanog proširenog novorođenačkog skrininga i primjenjuje se u svim razvijenim zemljama svijeta. Rezultati dobro dizajniranih velikihstudija nedvoj beno su pokazali da prošireni novorođenački skrining dovodi do smanjenja smrtnosti i boljeg kliničkog ishoda oboljele djece, ali i to da je njegovo provođenje ekonomski isplativo za cijelu zajednicu. Posljednjih godina su poduzeti napori da se uHrvatskoj stvore preduvjeti za proširenje novorođenačkog skrininga. Višegodišnje iskustvo razvijenih zemalja u provođenju proširenogskrininga i iz toga proizašle spoznaje služe nam kao dobar predložak za racionalnu organizaciju programa proširenog skrininga kojiće, vjeru jemo, uskoro postati realnost i u Republici Hrvatskoj. U radu se opisuju dosadašnji rezultati i dostignuća u našoj zemlji,promjene koje nas očekuju te koristi, ali i negativne strane proširenog novorođenačkog skrininga tehnologijom tandemske spektrometrije masa.
Europski program vanjske kontrole kvalitete rada u citogenetici
Authors: Brajenović-Milić Bojana , Vraneković Jadranka , Božović Ivana Babić , Buretić-Tomljanović Alena
Published: November 2024

Europski program vanjske kontrole kvalitete rada u citogenetici (Cytogenetic European Quality Assessment- CEQA) utemeljen je2005. godine, u sklopu EuroGentest mreže izvrsnosti u genetici radi unapređenja i ujednačenja kvalitete rada citogenetičkih laboratorija diljem Europe. CEQA nudi različite programe vanjske kontrole kvalitete rada u području prenatalne i postnatalne citogenetike,hemato-onkološke citogenetike, preimplantacijske genetičke dijagnostike i molekularne citogenetike (Microarray/ArrayCGH i PGDArray pilot program). CEQA proces odvija se preko mrežnih stranica zaštićenih lozinkom, a osmišljen je tako da oponaša cijeli procesanalize stvarnih dijagnostičkih slučajeva. Procjenjuje se ukupna kvaliteta usluge koju laboratorij pruža bolesniku, a to uključujeanalitičku izvedbu i kliničku interpretaciju rezultata. Za zemlje koje nemaju organiziran nacionalni program vanjske kontrole kvalitete rada u citogenetici, kao što je to slučaj u Hrvatskoj, sudjelovanje u CEQA programu je izvanredna prilika za visokoprofesionalnui na znanosti utemeljenu provedbu vanjske kontrole kvalitete.
Novi mikrodelecijski sindromi
Authors: Barišić Ingeborg , Pohovski Leona Morožin
Published: November 2024

Sve šira primjena novih tehnika analize kromosoma na mikropostroju dovela je do otkrića dosad nepoznatih mikrodelecijskih imikroduplikacijskih sindroma koji često nastaju zbog nealelne homologne rekombinacije između blokova segmentne duplikacije. Uovom članku prikazujemo kliničke i molekularno citogenetičke osobitosti nedavno opisanih sindroma s jasnim kliničkim fenotipom- mikrodelecijskih sindroma 17q21.31, 22q13.3, 15q24 i 9q34.3. Kako su neki mikrodelecijski/mikroduplikacijski sindromi opisani uosoba s normalnim fenotipom, potrebna su daljnja ispitivanja da bi se utvrdili potpuni klinički spektar i penetrantnost. Nužno jegenetičko savjetovanje za sve ispitivane obitelji, posebno ako se ima u vidu mogućnost otkrivanja inačica u broju kopija koje imajunejasne kliničke posljedice, nepotpunu penetrantnost ili različitu izraženost.
The prevalence of oral mucosal lesions in croatian children
Authors: Boras Vanja Vučićević , Rogulj Ana Andabak , Alajbeg Ivan , Škrinjar Ivana , Brzak Božana Lončar , Brailo Vlaho , Juras Danica Vidović , Verzak Željko
Published: November 2024

The prevalence of oral mucosal lesions in children and young adolescents are scarce and vary throughout the world; therefore, we investigated the prevalence of oral mucosal lesions in children and young adolescents referred to the Department of Oral Medicine, School of Dentistry in Zagreb. Out of 4523 patients referred to the Department of Oral Medicine during the period of three years, there were 142 children and young adolescents with oral mucosal lesions aged from one year to 19 years. Data from patient charts were organized into working sheets, which included age, sex, detailed medical history, clinical presentation of the oral disease, laboratory, microbial and biopsy fi ndings when needed. Oral mucosal lesions were recorded according to the World Health Organization. The most prevalent lesion was primary herpetic gingivostomatitis (21.12%), followed by recurrent aphthous ulceration (14.08%), traumatic lesions (11.9%) and geographic tongue (13.38%). There were no signifi cant sex diff erences in the prevalence of primary herpetic gingivostomatitis and recurrent aphthous ulceration (p=0.704). No signifi cant diff erences were observed in the prevalence of oral diseases according to age groups, except for recurrent aphthous ulceration and primary herpetic gingivostomatitis. A statistically signifi cant diff erence was found in the occurrence of recurrent aphthous ulceration and primary herpetic gingivostomatitis according to age groups. Primary herpetic gingivostomatitis was more frequently recorded in children from 1-6 years and recurrent aphthous ulceration in older age groups. There was no correlation between oral mucosal diseases and systemic diseases.
Bol u križima i leđima u djece i adolescenata - novije spoznaje
Authors: Đapić Tomislav , Pirkl Ana Vuković , Roth Šandor , Šmigovec Igor , Majer Marjeta
Published: November 2024

Učestalost križobolja i leđobolja u djece i adolescenata je u porastu i postaje jedan od češćih razloga odlaska liječniku. Većinakrižobolja i leđobolja je „nespecifi čna“ i povezana je s promjenom načina života, sa smanjenim kretanjem i dužim sjedenjem te„preopterećenjem“ kralježnice i muskulature trupa. Bolna kontrakura kralježnice, dugotrajniji i noćni bolovi, bolovi koji se pojačavajus kretanjem i aktivnošću, kihanjem i drugim aktivnostima koje povećavaju intraabdominalni tlak, neurološki ispad, povišena tjelesna temperatura upućuju na organski uzrok bolova „specifi čnu“ križobolju i leđobolju. Pomna anamneza i klinički pregled uz rengenograme osnova su dijagnoze. Od drugih slikovnih metoda magnetska rezonanacija je često ključ dijagnoze
C3 glomerulonephritis: two pediatric cases
Authors: Bayram Meral Torun , Alaygut Demet , Sarıoğlu Sülen , Soylu Alper , Türkmen Mehmet , Kavukçu Salih
Published: November 2024

C3 glomerulopathy defi nes a group of diseases characterized with deposition of C3 alone in the glomeruli in the absence of deposition of immunoglobulin or other complement products. These diseases include dense deposit disease, type 1 membranoproliferative glomerulonephritis (MPGN), familial type 3 MPGN, familial C3 glomerulonephritis associated with mutation in complement factor H related protein 5 and idiopathic C3 glomerulonephritis. Recently, dysregulation of the complement system has been accused in the disease pathogenesis. In this manuscript, two pediatric cases of probable C3 glomerulonephritis according to clinical and renal biopsy fi ndings are presented. One of the cases had presented with the nephrotic-nephritic syndrome and the other with macroscopic hematuria, and both had good prognosis.
Gigantska cista koledokusa u djeteta
Authors: Bastić Mislav , Kralj Rok , Kekez Alemka Jaklin , Višnjić Stjepan , Car Andrija , Župančić Božidar
Published: November 2024

Prikazujemo slučaj devetogodišnjeg dječaka koji se prvi puta prezentirao u našoj klinici 5 dana nakon akutnog nastanka bolova utrbuhu, povraćanja i proljevastih stolica, koje su slijedili žutica i intenzivan svrbež kože. Obavljena je dijagnostička obrada koja jeuključivala biokemijske pretrage, ultrazvuk abdomena, kontrastnu pretragu tankog crijeva, magnetnorezonantnu kolangiopankreatografi ju i endoskopsku-retrogradnu-holangio-pankretografi ju. Učinjen je operativni zahvat kojim je ekstirpirana cista dimenzija9x2x0,2 cm te je učinjena hepatikojejunostomija s vijugom tankog crijeva izdvojenom Roux en Y tehnikom. U kasnom poslijeoperacijskom razdoblju kao komplikacija razvili su se ascendentni kolangitis i pankreatitis koji su uspješno sanirani.
Sepsis presenting as an acute purulent neonatal epididymo-orchitis: case report
Authors: Šušnjar Tomislav , Milunović Klaudio Pjer , Bucat Marija , Škrabić Veselin , Biočić Mihovil , Todorić Davor , Todorić Jakov
Published: November 2024

Epididymitis, epididymo-orchitis, and infected hydrocele are uncommon in the neonatal period. It is very important to diff erentiate these entities from testicular torsion to salvage the aff ected testis and avoid unnecessary surgical exploration. Escherichia coli is an important and common cause of sepsis in neonatal period and also a common bacterium causing epididymo-orchitis from ascending route. We report a case of a newborn aff ected with epididymo-orchitis caused by early onset Escherichia coli sepsis. It is diffi cult to diff erentiate epididymo-orchitis from testicular torsion in neonatal period because the clinical signs of testicular torsion and epididymo-orchitis are similar. Color Doppler ultrasonography has an important role in diff erentiation of testicular torsion from epididymo-orchitis. In spite of clinical signs and ultrasonography, in some cases surgical exploration cannot be avoided to confi rm the accurate diagnosis.
Idiosinkratske nuspojave na aromatske antiepileptike
Authors: Lujić Lucija , Bošnjak Vlatka Mejaški , Đuranović Vlasta , Đaković Ivana , Kapović Agneza Marija , Jureković Irena Ivković , Barčot Zoran
Published: November 2024

Idiosinkratske nuspojave ne mogu se objasniti poznatim farmakološkim mehanizmima djelovanja lijekova. Čine oko 10% svih nuspojava. Pojavljuju se nepredvidljivo kod osjetljivih osoba, u prvih nekoliko tjedana od primjene lijeka i nisu ovisne o dozi. Relativno sučeste u bolesnika liječenih antiepilepticima. Mogu biti posljedica izravne citotoksičnosti ili imunološki posredovane. Kožne reakcijepreosjetljivosti najčešće su idiosinkratske nuspojave na aromatske antiepileptike. Manifestiraju se kao blagi eritematozni ili makulopapulozni osip, a mogu se razviti teške, za život opasne nuspojave: Toksična epidermalna nekroliza, Stevens-Johnsonov sindrom iDRESS (Drug Rash with Eosinophilia and Systemic Symptoms) sindrom. Aromatski antiepileptici metaboliziraju se u jetri pomoćucitokroma P450, pri čemu se stvaraju intermedijarni arenski oksidi. Ako se tijekom metabolizma aromatskih antiepileptika ne uklanjaju, oni mogu uzrokovati direktnu citotoksičnost ili djelovati kao antigeni i pokrenuti imunološki odgovor. Genetska predispozicija igra važnu ulogu u razvoju idiosinkratskih reakcija, a odnosi se na HLA sustav. Prikazujemo četvero bolesnika, u dobi 5-14,5 godina, koji su nakon uzimanja aromatskih antiepileptika razvili idiosinkratske nuspojave opasne za život. Iako se rijetko javljaju, zbogtežine bolesti potrebno je postupno uvođenje antiepileptika, a ako se razviju, treba ga ukinuti. Zbog postojanja križne preosjetljivosti(40-80%) među aromatskim antiepilepticima, ne preporuča se primjena lijekova iz iste skupine bolesnicima koji su već imali idiosinkratske nuspojave.
Idiopatski spasmus nutans
Authors: Delin Sanja , Nađ Katarina Bošnjak , Harapin Mladen , Sessa Zoran , Juratovac Zlatko
Published: November 2024

Spasmus nutans rijedak je idiopatski poremećaj koji se javlja u dojenčadi i male djece (najčešće između 4.-12. mjeseca života) i spontano prolazi nakon nekoliko mjeseci ili godina. Spasmus nutans uključuje klinički trijas: torticolis, klimanje glavom i nistagmus koji jeobično unilateralan, horizontalan, velike brzine i niske amplitude. Isti simptomi mogu biti udruženi i s ozbiljnim okularnimporemećajima poput strabizma, refrakcijskih anomalija, ambliopije, infantilnog idiopatskog nistagmusa, retinalnih bolesti (albinizam, akromatopsija, kongenitalno stacionarno noćno sljepilo) ili intrakranijskim poremećajima kao što je hipoplazija opticusa,gliomi opticusa ili hijazme, kraniofaringeomi, arahnoidalne ciste, talamičke neoplazme, neurodegenerativne bolesti središnjegživčanog sustava. U diferencijalnoj dijagnozi treba misliti i na benigni paroksizmalni torticolis. Dijagnostička obrada stoga nužnouključuje neuropedijatrijski i oftalmološki pregled, elektroencefalografi ju, metode slikovnog prikaza i elektrofi ziološko ispitivanje oka- vidne evocirane potencijale i elektroretinografi ju. U radu prikazujemo 22- mjesečnog dječaka s urednom perinatalnom anamnezom te urednim psihomotornim razvojem, koji od 8. mjeseca života povremeno naginje glavu na desnu stranu uz horizontalni nistagmus desnog oka i klimanje glavicom. Opsežnom dijagnostičkom obradom isključili smo moguće uzroke simptomatskog spasmusa nutansa te smatramo da je kod našeg bolesnika klinički trijas: torticolis, klimanje glavom i nistagmus idiopatski. Dječakće i dalje biti uključen u praćenje i dodatnu dijagnostičku obradu na kliničku indikaciju.
Microdeletion 17q21.31: two case reports
Authors: Odak Lj. , Pohovski L. Morožin , Barišić I.
Published: November 2024

Microdeletion 17q21.31 is a rare chromosomal disorder characterized by developmental delay/intellectual disability, neonatal/ childhood hypotonia, dysmorphisms, and characteristic behavioural phenotype. Additional anomalies of the heart, skeletal, urogenital and central nervous system can be present. This report presents two children - a girl at the age of 15 years and a 3-month old male infant with microdeletion 17q21.31. Multiple ligation probe amplification (MLPA) method using SALSA 245 and SALSA 371 probes showed microdeletion 17q21.31 that includes KANSL1 CRHR1 i MAPT genes in both patients. The disorder is a part of the KANSL1-related intellectual disability syndrome that could be caused by microdeletion 17q21.31 or a heterozygous intragenic mutation in KANSL1gene. It is inherited in an autosomal dominant manner, but almost all cases result from a de novo mutation.
Breaking bad news – informing parents on suspicion of prenatally detected Down syndrome in obstetric institutions: Hungarian experience
Authors: Orsolya M. , Tigy H. , Kives Z. , Janos S.
Published: November 2024

For health care professionals, breaking bad news postnatally to parents in case of suspected Down syndrome is a difficult task to perform. The aim of the study was to investigate the Hungarian practice as well as deficiencies from the perspective of the physicians providing first information in order to improve the current system. For better interpretability of the results, we compared the practice of providing first information in Hungary (74% national coverage) with 23 obstetric institutions in Germany. In Germany, communication training has already been incorporated into the curriculum of medical and health care higher education. It was found that 95% of the Hungarian and German institutions have no protocol for providing information. In Germany, the professionals get significantly more communication training (p=0.06) and more contact with civil organizations (p<0.01). In Hungary information stressing the negative aspects of the situation is more often given (p=0.024), while less consolation (p=0.017) and printed brochures are provided for parents (p<0.01). Hungarian physicians feel more often (p=0.022) they are not capable of helping the parents. The Hungarian practice of providing information needs improvement. The possible tools for improvement are the introduction of communication training in undergraduate and postgraduate education of health professionals as well as working on and elaborating policies concerning the breaking of bad news.
Myopathic changes in muscle biopsy of a patient with infantile systemic hyalinosis
Authors: Bayram E. , Topcu Y. , Karakaya P. , Firat C. , Yis U. , Ozer E. , Kurul S. Hiz
Published: November 2024

Infantile systemic hyalinosis is an autosomal recessive disorder characterized by congenital progressive joint contractures, facial dysmorphism, erythematous and papular rash, perianal nodules and protein-losing enteropathy. Clinical onset of the disease is usually within the first few weeks of life. Hyaline deposits are seen in the skin, gastrointestinal system and other visceral organs. A 10-month-old girl was admitted for progressive joint contractures, diarrhea and failure to thrive. She had erythematous rash under her neck, around the ears and nape. There were tiny and pearly red papules on her face. Thickening of the skin, hyperpigmentation over buttocks and hyperpigmented perianal nodules were also apparent. Although she had normal creatine kinase activity and electromyography findings, muscle biopsy showed mild myopathic changes including fiber size variation. There are few reports describing muscular involvement in infantile systemic hyalinosis. Here we present an infant with infantile systemic hyalinosis who had proximal muscle weakness and myopathic changes on muscle biopsy.
Changes in body mass index and subcutaneous fat among 11-year-old children in Zagreb (Croatia), 1982-2006
Authors: Sorić M. , Starčević N. , Mišigoj-Duraković M.
Published: November 2024

The main purpose of this study was to describe secular trends in body mass index and subcutaneous fat among 11-year-old children in Zagreb (Croatia) between 1982 and 2006. The sample consisted of 52 participants in 1982 (23 boys and 29 girls) and 89 participants in 2006 (37 boys and 53 girls). Height, weight and triceps, calf, suprailiac and subscapular skinfolds were measured and body mass index and central to peripheral skinfold ratio were calculated. During the study period, body mass index increased by a mean of 0.7 kg/m2 in boys and 1.4 kg/m2 in girls (p=0.03), while the mean increase in the sum of skinfolds amounted to 8.4 mm in boys and 5.8 mm in girls (p=0.02). At the same time, no change in body fat distribution was noted (p=0.48). The proportion of overweight children increased in girls (from 4% to 27%; p=0.03), but did not change in boys (from 14 to 19%; p=0.58). In conclusion, disturbing secular trends in adiposity of 11-year-old children were noted in this study. Intervention strategies for the prevention and treatment of childhood obesity are warranted in order to reverse such trends.
Social and health importance of physical activity in children and youth (based on who and eu documents)
Authors: Heimer S.
Published: November 2024

Scientific research provides powerful evidence that physical activity is one of irreplaceable health factors that significantly diminish the risks of a number of chronic diseases. The more so, in children and youth, physical inactivity contributes to the development of undesirable health phenomena in the body indicating early development of chronic diseases. Their prevalence in adults poses a major public health and economic problem in both developed and developing countries. Therefore, the World Health Organization (WHO) and the European Union (EU) have been paying extraordinary attention to physical inactivity in the last years and have published guidelines and recommendations on the struggle against sedentary way of life. The governments and their respective sectors in member countries should transfer them into the action plans and necessary measures implemented in everyday life of the population. Ministries of health, education and sports have the leading role in these activities. The efforts in treating children and youth properly for necessary physical activity and developing conditions in the education process as well as at leisure time as well has become one of the priority tasks of the state policy and of the society at large. The goal is to reach the WHO and EU recommendations of 60 minutes daily activity of moderate or vigorous intensity on most days of the week.
Tracking of physical activity and cardiorespiratory fitness from childhood to adulthood
Authors: Sorić M.
Published: November 2024

Physical inactivity and low cardiorespiratory fitness have been associated with numerous adverse health outcomes. In recent years, accompanying the emerging epidemic of childhood obesity, chronic metabolic diseases have started to appear already in childhood. Therefore, preventive efforts, including strategies for increasing physical activity levels, have shifted from adulthood and old age to childhood and adolescence. This strategy assumes certain stability of physical activity during life course, i.e. that physical activity will become a regular component of daily activities in most individuals. Therefore, this review considers evidence for tracking of different aspects of physical activity and several indicators of cardiorespiratory fitness during childhood and adolescence and from adolescence to adulthood.
What do we know about child suicide?
Authors: Novković V. Hercigonja , Hercigonja D. Kocijan
Published: November 2024

The problem of suicides in children and adolescents, according to epidemiological data, is growing. Regarding the etiology, most common theories claim that the cause of suicidal behavior lies in family dynamics and the influence of environment. The basic symptoms of suicidal behavior are lack of hope, low self image, and isolation. There are numerous risk factors that lead to suicidal behavior and therefore prevention activities are necessary, mostly in primary health care, continuous education in schools, families, and media. Secondary prevention aims at different risk groups and includes (beside school, families and media) institutions for social welfare. Tertiary prevention aims at well organized treatment and rehabilitation.
Primary bronchomalacia successfully treated with bronchopexy
Authors: Banac S. , Ivančić A. , Šegulja S. , Šaina G. , Čače N. , Rožmanić V.
Published: November 2024

A case of a two-year-old girl with primary bronchomalacia of the left mainstem bronchus is described. The girl did not present with a history of persistent or recurrent respiratory symptoms. Instead, thorough physical examination performed due to an acute upper airway infection and coincidental discovery of unilateral lung hyperinflation on chest radiography had started a sequence of diagnostic procedures. Definitive diagnosis was made by bronchoscopy. There was complete loss of bronchial lumen during expiration. The girl underwent bronchopexy, which entails surgical suspension of the affected bronchial wall to ligamentum arteriosum. Bronchopexy proved to be effective therapeutic approach in the reported case. The suspending effect of bronchopexy is expected to last long enough to allow the affected bronchus to grow and reach the size at which malacic segment will no longer produce problems.
Fulminating Shigella Encephalopathy (ekiri syndrome)
Authors: Kola E. , Bakalli I. , Lluka R. , Zavalani F. , Celaj E. , Kasmi I. , Kasmi G. , Vula A. , Sallabanda S.
Published: November 2024

Complications of shigella infection include both intestinal and extraintestinal manifestations. Hemolytic uremic syndrome and central nervous system complications are among the most common extraintestinal manifestations of shigellosis. Neurological manifestation, particularly seizures and encephalopathy, are not common in childhood shigellosis. Brain edema is a common finding in patients presenting with severe shigella encephalopathy. Shiga toxin production is not essential for development of shigella associated neurological symptoms. Early recognition and proper management of cases of severe shigella encephalopathy may help improve the outcome. A case is reported of a 2.5-year-old female child with severe fulminating shigella encephalopathy (ekiri syndrome) who achieved complete recovery. Brain computed tomography findings of this patient are presented.
Association between plasminogen activator inhibitor-1 and methylenetetrahydrofolate reductase polymorphism with increased homocysteine levels in a 14-year-old girl with ischemic stroke
Authors: Trbojević T. , Rastovac M. , Miklić L. , Bunoza B. , Tešović G. , Bilić E. , Barišić N.
Published: November 2024

We present a 14-year-old girl with ischemic stroke in the right middle cerebral artery territory, associated with polymorphism 4G/4G plasminogen activator inhibitor-1 (PAI-1:genotype 4G/4G) and homozygous genotype C677T for methylenetetrahydrofolate reductase with consequential hyperhomocysteinemia. In the initial phase, clinical presentation and laboratory results indicated acute disseminated encephalomyelitis and treatment with i.v. globulins and plasmapheresis were carried out. Control MRI with angiography showed a post-ischemic lesion after occlusion of the right internal carotid artery. Analysis of prothrombotic disorders and association with the acquired disorders are significant in evaluating the etiology of ischemic stroke in children. This case shows the variability of etiological inherited and acquired factors in children with stroke and complicated clinical course, which can correspond to acute disseminated encephalomyelitis in the acute phase and also points to the importance of identifying the cause for the possible secondary stroke prevention.
Neurological symptoms in children caused by isolated sphenoid sinusitis
Authors: Klarić A. Šimić , Tesari H. , Rajić M. Tomić , Gotovac N. , Kolundžić Z. , Drkulec V.
Published: November 2024

Isolated sphenoid sinusitis in children presents with a broad spectrum of neurological symptoms. As a consequence, orbital and intracranial complications can occur because of the proximity to the eyes and brain. Our patient was admitted to the hospital due to occipital headache that started two weeks before and meningism in the absence of fever. Blood tests and funduscopy were normal. Magnetic resonance scan revealed isolated left sphenoid sinusitis. Centrotemporal focal slowing was recorded on electroencephalogram. After a few days of antibiotic therapy, all symptoms disappeared. Electroencephalographic focal changes vanished within a month. Acute sphenoid sinusitis is a potentially devastating, but curable condition. It should be considered in differential diagnosis of headache and other unclear neurological symptoms.
Morphological skills in prematurely born seven-year-old children
Authors: Kolundžić Z.
Published: November 2024

Many researches conducted in the world confirmed the negative consequences of premature birth in the sense of lower language abilities. Information on the morphological development of prematurely born children in Croatia is very scarce. The aim of the present study was to acquire information on morphological skills of prematurely born seven-year-old children at the beginning of their primary school education. Good morphological skills enable the reading and writing skills to be properly acquired, thus making good language skills that are particularly important at the beginning of the schooling process. Study results revealed lower achievements in prematurely born subjects on assignments that require morphological identification of plural and plural of pseudowords. This shortage in morphological skills is a very significant and risky factor for the development of reading and writing disabilities. When prematurely born, preschool children should be monitored for language abilities development in order to prevent and alleviate the possible disability.
Early intrauterine cytomegalovirus infection: extreme sequels with good seizure control
Authors: Malenica M. , Šojat Lj. Cvitanović , Juraški R. Gjergja , Rode O. Đaković , Pećina H. I.
Published: November 2024

Cytomegalovirus (CMV) is the most common congenital viral infection in humans with great propensity to infect and injure developing nervous system. The extent of damage directly depends on the time of infection. In early CMV infections, the extent of neurologic damage most likely causes fetal death. We present a child with serology indicative of acute CMV infection and neuroimaging showing signs of early congenital infection. Seizures caused by severe central nervous system damage were well controlled with phenobarbital maintained within reference values in blood. In conclusion, severe neurologic damage caused by early congenital CMV infection emphasizes the importance of CMV infection stigmata recognition with early fetal sonography, and in suspected cases with serology. This case reveals insufficient diagnostic strategies, as well as deficient treatment options including the need for developing a safe and efficient vaccine. This child is an extraordinary example of surviving infant with extreme central nervous system damage and good seizure control.
Symptomatic epilepsy of the frontal lobe caused by focal cortical dysplasia type ii in the left precentral region – pre-operative evaluation
Authors: Barišić N.
Published: November 2024

Patients with focal cortical dysplasia (FCD) type II (Taylor’s type) are excellent candidates for surgical treatment of epilepsy when the localization of the lesion does not coincide with the eloquent area or when it is not in the vicinity of the eloquent cortical region. New research shows that for a good post-operative result it is not always necessary to completely remove the FCD (type II b with ballooned cells). Whether the patient or his/her parents will agree to the pre-operative evaluation and finally the surgical procedure depends on the information they receive, including the benefits and possible risks of surgical treatment. The development of new non-invasive methods offers valuable information about the localization of the functional regions, the vicinity of the epileptogenic lesion and the pyramid paths which must not be damaged during the operation. Results: We present three patients with pharmocoresistent epilepsy of the frontal lobe caused by FCD type 11 localized left precentrally, which either coincides or is in the vicinity of the eloquent region During pre-operative work up the fact was considered that the effect of the operation is favourable and acceptable primarily in cases when the lesion may be removed completely. In all three patients there was an increased risk of development of hemiparesis due to the vicinity of the primary cortical motor area for the area and the corticospinal tracts which pass through that area, and the Broka region in the third patient. Neuronavigation and tractography may help in preventing damage to the corticospinal tracts. Invasive recording with subdural and deep electrodes is vital, after evaluation with surface electrodes. In the past these patients would not undergo surgery due to the uncertain prognosis since the lesions could not be removed completely and due to the risk of postoperative damage and complications. In line with the latest results of clinical research founded on the fact that it is not necessary to remove the lesion completely in order to attain excellent surgical outcome and with the new non-invasive techniques, such as computerized tomography, functional magnetic resonance and tractography, which can help to reduce the risk of neurological complications, today more patients suffering from pharmacoresistant epilepsy caused by dysplasia in the area or the vicinity of the eloquent regions may undergo surgery successfully. Conclusion: New techniques such as fMR, computerized tomography and tractography provide the possibility of a reasonable assessment between a favourable outcome of surgical treatment and possible damage after surgery in patients with FCD, where the lesions coincide with the eloquent cortical areas.
The value of MR and new recording techniques in the diagnostics of demyelinating diseases in children
Authors: Buča A.
Published: November 2024

MR is a diagnostic test which, in a non-invasive way, provides anatomic and physiological information on the principle of the magnetic field without the use of ionizing radiation. Like a CT, MR is also founded on computer layering of images of tissues, but with much better contrast resolution, which makes greater sensitivity and specificity possible than in CT imaging in the detection of diseases of the white matter of the brain. Precisely for these reasons, MR is the leading method of choice, the Gold Standard in diseases of the white matter, both in children and in adults. With the rapid development of new MR sequences and recording techniques, perfusion and diffusion and MR spectroscopy (MRS), which is based on an assessment of the ratio of individual metabolites in the brain, its reliability is growing in the detection of pathological conditions of the white matter, which we differentiate on the basis of the intensity of the signal, the pattern and distributions of the lesions and from the manner of imbibing after the application of i.v. contrast. The leading MR sequences for diagnosis of diseases of the white matter are T2 and FLAIR on which they are presented by an extremely heightened intensity of signal and newer MRS techniques. Although primarily demyelinating diseases are very rare in children, it is important to know their clinical and radiological presentation for the sake of timely diagnosis and suitable therapy and therefore a better prognosis. Acquired demyelinating diseases in children, which cause the destruction of the normally created myelin, may be caused by infections such as MS or ADEM, infective agents (Lyme disease, PML; HIV) and toxic metabolic damage (chemotherapy, radiation). Inherited or dysmyelinating diseases which lead to disturbed production of myelin, are the result of metabolic disorders in the synthesis of enzymes involved in building normal myelin. The best known of these are: Canavan disease, metachromatic leukodystrophy, Krabbe’s and Alexander’s disease, Pelizaeous-Merzbacher disease and X-linked adrenoleukodystrophy. All these illnesses and conditions have a specific radiological presentation on MR, which makes it much easier to establish a diagnosis where the clinical signs are unclear. In older children the same recording protocols are used as in adults, since in most cases they are cases of demyelinating diseases, whereas in young children special recording techniques must be used as the child brain contains about 10% more water than the brain of a mature man. All this would not be possible without MR of the appropriate strength of magnetic field (minimum 1.5 T) and of course the appropriate cooperation between clinicians and radiologists in making decisions about the method of choice and establishing the final diagnosis.
Progressive myoclonic seizures in siblings with neuronal ceroid lipofuscinosis
Authors: Mladinov O. , Močenić I. , Ovuka A. , Sasso A.
Published: November 2024

Neuronal ceroid lipofuscinoses (NCLs) are progressive autosomal recessive disorders belonging to the group of lisosomal-storage disorders. The main mechanism of these lethal diseases is the excessive accumulation of lipofuscin in the central nervous system, but other organs are also affected. The prevalence of NCLs ranges from 0.36 to 0.46/100 000. Based on the age of onset, NCLs are divided into four types: infantile, late-infantile, juvenile and adult neuronal ceroid-lipofuscinosis. Late-infantile neuronal ceroid lipofuscinosis (LINCL) appears at 2-4 years of age, with myoclonic seizures as the common inital sign. With the progress of the disease other neurological signs and mental deterioration appear. The diagnosis is based on deficiency of enzyme tripeptidyl-peptidase 1 (TPP-1) activity in leukocytes and CLN2 gene mutation. There is no causal treatment for the disease and a lethal outcome is expected after 8-12 years. Here we present the diagnosis and course of LINCL in two siblings, whose parents are unaffected heterozygotes and are not related. The first signs of the disease were myoclonic seizures resistant to medication at the age of 1.5 and 2, years respectively. With the course of the disease, seizures were followed by other neurological symptoms, mental deterioration, impairment of sight and delayed general development. The older sibling is now 5 years of age, is at an advanced stage of the disease and is in a poor physical state, paralysed, with occasional myoclonic seizures, not able to talk, has a pronounced tremor, involuntary movements and cerebellar ataxia. The younger sibling is now 3.5 years of age, he is still mobile, but the first signs of mental and motoric deterioration can be noted. The predominant signs are frequent myoclonic and atonyc seizures, up to 40 per day, which are resistant to all antiepileptic medications. The parents, whose third child is unaffected, have been offered psychological and social help.
Clinical features of epilepsy in children with central nervous system malformations according to developmental classification
Authors: Tomasović M. , Buča A. , Marušić E. , Tomasović I. , Rešić B. , Lozić B. , Kuzmanić-Šamija R. , Bucat M. , Meštrović M. , Lahman-Dorić M. , Kuštera S.
Published: November 2024

Central nervous system malformations (CNSM) and especially malformations of cortical development (MCD) are a common cause of epilepsy, although epilepsies are not always the most prominent neurologic manifestation of these disorders. Advances in developmental neuroscience and neuroimaging techniques have resulted in recognition and better understanding of CNSM, and therefore a better understanding of both normal and abnormal brain development. CNSM classification is not final and it will continue to be modified with increasing experience of geneticists, neurologists and neuroimagers. The aim of this study was to investigate the clinical features of epilepsy in 146 children with CNSM reffered to the Pediatric Clinic of the Clinical Hospital Centre Split from 1998 to 2009. Epilepsy was recognized in 68 patients (46.6 %), 37 (25.3%) of whom had the first sezures by 1 year of age, 23 had epileptic encephalopahy (EE), 39 generalized epilepsy (GE) and 6 partial epilepsy (EP). Epileptic seizures were controlled in 35 (24%), and refractory in 33 (22.6%) patients. Epilepsy is significantly more rare in isolated disorders of dorsal and ventral induction and significantly more frequent in more immature anomalous brain lesions, microcephaly and lissencephaly. Patients with more immature lesions often have multiple CNSM, seizure onset by 1 year of age, EE and refractory seizures. We established an etiological diagnosis in 62 of 146 cases (42.4%). Classification of CNSM based on radiological, clinical genetic and neurological examinations require a specialized multidisciplinary team. The input of the clinician remains necessary to link clinical, genetic and neuro-imaging data to define precisely clinico-imaging entities to improve patient treatment and disease management.
The validity of the hematologic scoring system in diagnosing early-onset neonatal infection
Authors: Selimović A. , Skokić F.
Published: November 2024

Early diagnosis and treatment of the neonate with suspected infection are essential to prevent severe and life-threatening complications. The aim of this retrospective study was to evaluate the validity of the hematologic scoring system in diagnosing earlyonset neonatal infection (EONI), according to Rodwell et al. We included 341 term singletons of both genders, gestational age of 37th to 42nd week, with risk factors for EONI and without visible anomalies. A diagnosis of EONI was based on clinical, laboratory and/or microbiological findings of EONI, without consideration of hematologic findings. Hematologic findings (white blood with differential count, and platelets count) were scored according to Rodwell et al. The cut-off score was 3. During the study period, there were 12 298 live births, 11 599 terms and 699 prematures. In the first 72 hours of life, 199/341 (58.4%) neonates were considered to have EONI, of which 52/199 (26.1%) neonates with proven and 73.9% probable EONI. The applied hematologic scoring systems in EONI had high specificity (92%) and positive predictive value (PPV) (88%), as same as in probable EONI with specificity of 92% and PPV of 84%. In proven EONI both specificity (92%) and negative predictive value PPV (82%) were high. The validity of the hematologic scoring system in diagnosing EONI among neonates with risk factors is acceptable. The use of the test is available even in the smallest delivery rooms, and the price is reasonable, not only for single but for repeated use.
Outcome of pregnancy after in vitro fertilization
Authors: Kasum M.
Published: November 2024

In 2004 clinical pregnancy rates per aspiration and per transfer after in vitro fertilization (IVF) in Europe were 26.6% and 30.1%, respectively. The distribution of singleton, twin and triplet deliveries after IVF was 77.2%, 21.7% and 1%, respectively. The reported total multiple delivery rate of 22.7% during 2004 decreased, compared with 23.1% in 2003 and 24.5% in 2002. The proportion of children born after IVF ranged from 0.2% to 6.2% of all infants. Conceptions by IVF are associated with an increased incidence of several obstetrical and perinatal complications. Most of these complications are related to the high incidence of multiple gestations. However, even singleton pregnancies appear to be affected. Neonatal complications are primarly the result of preterm deliveries. Patients should be informed about the fact that pregnancies conceived by IVF are associated with increased risk of multiple gestations, preterm delivery, low birth weight, and complications associated with these outcomes. Several strategies attempting to control the frequency of high order multiples have been implemented. The overriding aim of the strategies is to transfer fewer embryos of higher quality to maximize the pregnancy rate and to minimize the risk of high order multiple gestation.
Emotional abuse of children
Authors: Sesar K. , Sesar D.
Published: November 2024

Emotional abuse, because of its complexity and the difficulty of defining it, still gets very little attention in research compared to other forms of abuse. Characteristics related to parents, some characteristics of the child and socio-economic conditions are risk factors for emotional abuse of children. Consequences for the growth and development of children exposed to emotional abuse may be short or long term. The level of the physician’s and other professionals’ education who work with children on this issue is still not satisfactory. Various forms of preventive programs have been developed over the past few decades; but at the same time, the very important role of families and doctors in prevention of this kind of abuse is emphasized.