bluuebunny/crossref_metadata_2025 huggingface dataset:
Clostridium diffi cile infection in children: characteristics and treatment – a single-center study from Romania
Authors: Lesanu Gabriela , Vlad Raluca Maria , Becheanu Cristina Adriana , Stocklosa Mirela Ionela , Dijmarescu Irina , Coroleuca Alexandra , Lemeni Daniela , Macovei Ioana Sabina , Nistor Irina , Pacurar Daniela
Published: November 2024

The incidence of Clostridium diffi cile infection (CDI) in children is progressively increasing. The study evaluated the characteristicsand antibacterial treatment of CDI at a Romanian pediatric gastroenterology department. We performed a retrospective study toanalyze cases diagnosed with CDI, identifi ed through immunoassays for Clostridium diffi cile toxins in stools, between January 1,2005 and December 31, 2015. Eighty-nine episodes of CDI were diagnosed in 73 patients. We noticed an increasing incidence reachingmaximum in 2014 with 6.9 cases/1000 patients. Almost 40% of patients had community-acquired CDI. The most frequentlyassociated comorbidities were infl ammatory bowel disease and cow’s milk allergy. There was a small percentage of recurrent episodes(24.2%). Metronidazole was administered as fi rst-line treatment in 49.2% of mild/moderate cases and proved eff ective in 79.4%of these. More than 70% of all patients in which metronidazole was not effi cient had comorbidities, compared to 22.2% of patientswhere metronidazole was effi cacious. The alternative was vancomycin which cured the disease in all cases. In severe forms, a combinationof intravenous metronidazole and oral vancomycin was the effi cient solution. Oral vancomycin was the effi cacious treatmentfor the fi rst recurrence. We report an increasing incidence of CDI in Romanian children. The failure rate for metronidazoletreatment was low, thus metronidazole may be safely recommended for the fi rst episode of mild/moderate CDI. Vancomycin provedeff ective in all cases, regardless of the fi rst episode or recurrence, and may be used effi ciently as fi rst-line treatment.Key words: Clostridium diffi cile; antibacterial treatment; children
Uporaba antiseptika u dječjoj stomatologiji
Authors: Stojić Sofi ja , Vranić Dubravka Negovetić , Njari Vlatka , Čekalović Sara , Verzak Željko , Šutej Ivana
Published: November 2024

Svrha ovog rada je pregled antiseptika i defi niranje značenja stomatoloških antiseptika u kontroli i eliminaciji mikroorganizama kaosastavnog dijela prevencije i terapije bolesti zuba i parodonta u dječjoj stomatologiji. Dosad su poznate karakteristike i mehanizamdjelovanja pojedinih antiseptika te je doprinos rada predstaviti indikacije za njihovu primjenu u svakodnevnom radu stomatologa,osobito u dječjoj i preventivnoj dentalnoj medicini.
Partial trisomy on chromosome 7 (7q) is a rare condition resulting from duplication of the 7q long arm. It is usually associated with delayed psychomotor development, characteristic phenotypic features and profound learning disabilities. The clinical pict
Authors: Farago Emica , Jukić Matea
Published: November 2024

Parcijalna trisomija 7q (7q) rijetka je genetička pogrješka defi nirana duplikacijom dugog kraka 7. kromosoma. Karakterizirana je višestrukim teškoćama u spoznajnom i motoričkom razvoju, karakterističnim obilježjima fenotipa i teškoćama učenja. Klinička slikaje vrlo varijabilna i ovisi o količini dupliciranog segmenta.Cilj ovog rada bio je standardiziranim mjerenjima ispitati opseg receptivnog rječnika, razumijevanje gramatike, usvojenost predvještina čitanja i pisanja, govorno-motoričke i pripovjedne sposobnosti te kakvoću glasa dječaka s parcijalnom trisomijom 7q. Dječakova dob je bila 7 godina i 10 mjeseci. Obradom podataka utvrđeno je da dječak ima smanjen opseg receptivnog rječnika,postiže umjereno nizak rezultat na TROG-2:HR testu razumijevanja gramatike, govorno-motoričke sposobnosti su narušene kao ikakvoća glasa te su vidljive teškoće u grafomotoričkoj izvedbi i zadatcima vizualne percepcije. Dječak ima usvojene neke predvještinečitanja i pisanja. Uredno postignuće pokazuje na varijablama raščlambe rečenice na riječi, varijabli fonemske svjesnosti i fonološkogimenovanja velikih i malih slova
Prader-Willi syndrome is a rare and complex genetic disorder that disrupts the function of multiple organ systems due to the absent expression of paternal genes from chromosome 15q11.2-q13. It is characterized by hypotonia found in neonatal period, which
Authors: Stipančić Gordana , Šepec Marija Požgaj , Sabolić Lavinia La Grasta
Published: November 2024

Prader Willi sindrom (PWS) rijedak je i složen genetički poremećaj koji remeti funkciju više organskih sustava, a posljedica je izostankaizražaja očevih gena u regiji 15q11.2-q13. Klinički je obilježen sniženim tonusom mišića već od novorođenačke dobi, što remeti hranjenje i napredovanje. Ubrzo se razvija hiperfagija koja dovodi do morbidne debljine. Unatoč debljini djeca su smanjenog rasta,a izostaje i spolni razvoj. Zaostaju u motoričkom i govornom razvoju, uz blago do umjereno kognitivno oštećenje i promjene ponašanja. Bolest je obilježena brojnim komplikacijama, prvenstveno povezanih s debljinom. U Europi incidencija PWS-a procjenjuje se na oko 1:30 000 živorođene djece, a prevalencija u općoj populaciji iznosi 1:50000. Za tijek bolesti od presudne je važnosti štoranije genetičkom analizom potvrditi dijagnozu i započeti liječenje uz multidisciplinski pristup. Potrebno je osigurati kontrolu unosahrane i time spriječiti razvoj debljine, te habilitacijskim mjerama poboljšati djetetov psihomotorički razvoj. Posljednjih godina u liječenje je uključen i hormon rasta (HR), jer je u većine djece dokazan njegov defi cit. HR ubrzava rast, poboljšava konačnu visinu ipozitivno utječe na kompoziciju tijela učinkom na količinu masnog i mišićnog tkiva. Provodi se i nadoknada spolnih hormona tetiroksina u slučaju hipogonadizma, odnosno hipotireoze. Važno je da liječnici budu upoznati s potrebom rane dijagnoze ove rijetkebolesti i terapijskim mogućnostima koje su dostupne kako bi se poboljšala kakvoća života i produžio životni vijek oboljelih.
Patau syndrome
Authors: Čulić Vida , Polić Branka , Mišković Silvana , Ivulić Slavica Dragišić , Zitko Vanda , Sipalo Tatijana , Pavelić Jasminka
Published: November 2024

Genetic syndromes caused by chromosomal aberrations involve a recognizable pattern of multiple congenital anomalies with increased neonatal and infant mortality, making care challenging for the family, primary care practitioners, and specialists. About 28% of children born with trisomy 13 die during the fi rst week of life. The median life expectancy is about 2.5 days. We present a 12-year-old girl, the longest living patient with Patau syndrome in Croatia, followed-up from the birth until the age of 12 years. The conventional nonintervention approach has been revised and we suggest changing the traditional view of the condition.
Serum prolactin levels in diff erential diagnosis of pediatric epileptic and nonepileptic (pseudo-SEIZURES) seizures
Authors: Çitilcioğlu Hatice Bülbül , Matyar Selçuk , Akgül Okan , Bucak İbrahim Hakan , Turgut Mehmet
Published: November 2024

The aim was to determine diagnostic value of serum prolactin levels in the diff erential diagnosis of epileptic and nonepileptic seizures in children. The study included 100 patients aged one month to 18 years, admitted to the hospital for seizure complaints. All patients underwent electroencephalography in the postictal period and their serum prolactin levels were measured at 10 min and 60 min of the postictal period. The mean 10-min serum prolactin level was 37.1±20.09 ng/mL and 16±14.59 ng/mL (p<0.01) in patients with epileptic and nonepileptic seizures, respectively. After grouping of patients with nonepileptic seizures, the mean 10-min serum prolactin level in patients with epileptic seizures and those with syncope was 37.1±20.09 ng/mL and 30.52±19.21 ng/mL (p>0.05), respectively. The mean 10-min prolactin level in patients with epileptic seizures and those with non-syncope epileptic seizures (night terror, conversion and breath holding spells) was 37.1±20.09 ng/mL and 10.9±5.95 ng/mL (p<0.01), respectively. In conclusion, serum prolactin level in the postictal period is an important marker in the diff erential diagnosis of epileptic and nonepileptic seizures. There was no signifi cant diff erence between serum prolactin levels in the diff erential diagnosis of epileptic seizures and syncope, but it had an important role in diff erentiating nonepileptic cases such as breath holding spells, night terror and hysterical conversions from epileptic seizures and syncope.
Human exposure to endocrine disrupting chemicals as a prenatal risk factor for cryptorchidism
Authors: Fratrić Ivana , Živković Dragana , Vukmirović Saša
Published: November 2024

This review describes the most recent data on the eff ects of endocrine disrupting compounds on reproductive tract development, aswell as controversies in the fi eld. One of the most frequent conditions aff ected by endocrine disrupting compounds is cryptorchidism.Recent reports regarding the cause of this disorder continue to increase our understanding of this common and important problem.Endocrine disruptors are defi ned as exogenous substances with the ability to disrupt normal endocrine homeostasis and reproduction,and they include xenoestrogens, synthetic and natural hormones, phyto- and mycoestrogens, and other substances aff ectingendocrine signaling. Human exposure to endocrine disrupting chemicals is widespread. Epidemiological studies suggest associationsbetween prenatal exposure to endocrine disrupting chemicals and numerous malformations of androgen dependent tissues.Animal models and epidemiological evidence link exposure to androgen disrupting chemicals with cryptorchidism, reduced spermcell counts, increasing infertility, and testicular and prostate cancers. Since male sexual diff erentiation is androgen dependent, it ishighly susceptible to endocrine disruptors. Whether the level of exposure contributes to the increasing prevalence of cryptorchidismis an ongoing debate. Further, there appears to be increased sensitivity to these agents during critical developmental periods whenmale diff erentiation is at its peak. Diff erences in the interpretation of the available studies underlie the disparate conclusions of scientific and regulatory body panels on the potential toxicological eff ects of endocrine disrupting chemicals at the current levels ofhuman exposure. This review will highlight the evidence for endocrine disrupting chemicals that act through interference with theandrogen receptor and lead to cryptorchidism.
Kartagener syndrome – a very rare cause of neonatal respiratory distress
Authors: Ribičić Rebeka , Borošak Jesenka , Baudoin Tomislav , Bulimbašić Stela , Ribičić Tomislav , Štefanović Iva Mihatov , Tumbri Jasna , Prajz Lorita Mihovilović
Published: November 2024

We report on a newborn with respiratory distress and situs viscerum inversus totalis. Kartagener syndrome was suspected because of respiratory distress, oxygen dependence, atelectasis, thick nasal mucus, productive cough and situs viscerum totalis. The diagnosis of primary ciliary dyskinesia was confi rmed by electron microscopy. We suggest that, despite its rarity, primary ciliary dyskinesia should be considered in any newborn with unexplained respiratory distress. Also, we emphasize the diagnostic role of thick nasal mucus and productive cough, both very rarely seen in neonates. Early diagnosis of primary ciliary dyskinesia may allow for early initiation of physiotherapy and multidisciplinary care, in order to preserve lung function in this genetic disease as long as possible. To our knowledge, this is the fi rst report of Kartagener syndrome diagnosed in a newborn in Croatia.
Niemann-Pick disease type C: mutations of NPC1 gene and the course of disease
Authors: Cvitanović-Šojat Ljerka , Malenica Maša , Kukuruzović Monika , Kužnik Kristina , Žigman Tamara , Bielen Ana
Published: November 2024

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder caused by mutations in the NPC1 gene in 95% of cases. Consequently, unesterifi ed cholesterol accumulates in late endosomes/lysosomes causing extremely varied neurovisceral symptoms. For many countries including Croatia, there are no reported NP-C cases to date, mainly because the accurate diagnosis of NP-C requires not easily accessible biochemical and molecular-genetic laboratory tests. Therefore, with the aim to improve clinical practice and understanding of NP-C in the region, we present the fi rst siblings with NP-C recorded in Croatia. The diagnosis was based on histologic, biochemical and genetic tests. Namely, fi lipin staining showed accumulation of unesterifi ed cholesterol and cultured skin fi broblasts were defi cient in esterifi cation of exogenously administered cholesterol. Electron microscopy of skin biopsy revealed the presence of sequestrated lipids in lysosomes. Molecular analyses showed both siblings to be compound heterozygotes for two disease-causing mutations of NPC1 protein, N1156S and Q922X. Based on comparison with previously reported N1156S homozygotes, we propose that Q922X mutation, causing the formation of a truncated NPC1, has a more severe impact on clinical outcome. Further, we observed pronounced diff erences in the disease course in the siblings; i.e. in the boy we observed an earlier onset and a much faster neurologic deterioration (late infantile onset), suggesting other genetic and/or environmental factors infl uencing the course of the disease. In contrast, the girl exhibited juvenile type of NP-C. In conclusion, when progressive neurologic symptoms develop in late childhood and with a previous history of neonatal cholestasis, the classic late infantile or juvenile type of NP-C must be suspected.
Distinctive phenotype in a girl with Rett syndrome and a novel 25 bp deletion mutation in exon 4 (c.881_905del25, nm_004992.3) of the MECP2 gene
Authors: Katavić Matej , Kukuruzović Monika , Malenica Maša , Seneca Sara , Cvitanović-Šojat Ljerka
Published: November 2024

Rett syndrome is a pervasive developmental disorder with a variable clinical presentation, which is caused by point mutations orlarge deletions/duplications in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. The aim is to describe variation in theclinical course related to the mutation identifi ed in exon 4 of the MECP2 gene. Retrospective review of data, electroencephalographyand treatment was done in a 19-year-old girl previously diagnosed with a MECP2 gene mutation. Born after an uneventful pregnancy,the female patient’s growth and psychomotor development were normal, except for delayed speech. At the age of 3 years,tonic-clonic seizures started and at the age of 3.5 years autistic behavior was observed, followed by rapid mental deterioration, lossof speech and motor skills, with periods of hyperventilation. At the age of 5 years, she showed occasionally „hand-washing“movements. Extensive neuro-metabolic investigation was nondiagnostic. Genetic analysis revealed a novel 25 bp deletion mutationin exon 4 (c.881_905del25) of the MECP2 gene. Until now, multiple epileptic seizure types, refractory to all antiepileptic polytherapyand with normal video EEG background, have occurred daily. She is spastic and ataxic, but still able to walk slowly with awide based gait. In this female patient, the onset of symptoms manifested much later than encountered in typical cases ofRett syndrome. Epilepsy with daily frequency is however drug resistant. Unexpectedly, she is still able to walk at the age of 19years. A genotype-phenotype correlation is suspected.
Clinical Department of Pediatrics, Sestre milosrdnice University Hospital Center, Vinogradska cesta 29, 10000 Zagreb, Croatia
Authors: Šižgorić M. Kovač , Sabol Zlatko , Sabol Filip , Grmoja Tonći , Klancir Svjetlana Bela , Gjergja Zdravka , Sabol Ljiljana Kipke
Published: November 2024

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.
Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report
Authors: Malenica Maša , Kukuruzović Monika , Bitanga Suzana , Krakar Goran , Valent Bernardica , Cvitanović-Šojat Ljerka
Published: November 2024

Friedreich’s ataxia is an autosomal recessive disease and the most frequent inherited ataxia. The disease is characterized byexpression of the unstable GAA trinucleotide repeat expansion located in the fi rst intron of the FXN gene on chromosome 9. Clinically,it is presented by progressive gait and limb ataxia, absent refl exes with positive Babinski, and cardiomyopathy with no diff erenceregarding race and gender. Our patients are teenage siblings in whom analysis of DNA confi rmed both alleles with full mutationin the FXN gene that codes for frataxin. Even though both siblings have full mutation and are both in the same age group, theirclinical presentation and course of the disease are rather diff erent. The sister has almost all typical neurologic signs of Friedreich’sataxia with progressive course despite supportive therapy. The brother shows only hypertrophic cardiomyopathy with no neurologicor skeletal disturbances so far. It is possible that other factors may also play an important role in the clinical presentation andcourse of Friedreich’s ataxia. The cases of our patients prove that it is not advisable to foresee the clinical course based solely on thenumber of repeats.
family
Authors: Matijaš Tena , Pavliša Jasmina Ivšac , Ljubešić Marta
Published: November 2024

Potaknuta potrebama obitelji i postojećim stanjem rane intervencije u Republici Hrvatskoj, Hrvatska udruga za ranu intervenciju udjetinjstvu pokrenula je stvaranje jedinstvene baze podataka o uslugama rane intervencije u Republici Hrvatskoj. Cilj baze podatakaje omogućiti jednostavan pristup sveobuhvatnim i provjerenim informacijama o uslugama rane intervencije u djetinjstvu, koje sepružaju u Republici Hrvatskoj u području predškolskog odgoja, sustava zdravlja i socijalne skrbi. U ovom radu bit će prikazanipodatci dobiveni u državnim i privatnim zdravstvenim ustanovama radi uvida u trenutno stanje pružanja usluga u domeni raneintervencije u djetinjstvu na području Republike Hrvatske u sustavu zdravlja. Podatci su prikupljeni putem anketnog upitnika u oblikuinternetske aplikacije. Uzorak su činile 41 državna i 32 privatne zdravstvene ustanove prijavljene u sustavu zdravstva. Rezultatiupućuju na geografsku centraliziranost stručnjaka koji pružaju usluge u domeni rane intervencije u sustavu zdravlja, te ih je najvišena području Grada Zagreba. No nije evidentirana statistički značajna razlika između županija u odnosu na vrstu teškoća kojima sebave, stručnjaka koje zapošljavaju i usluga koje se pružaju. Usporedba između privatnih i državnih zdravstvenih ustanova pokazalaje da su privatne organizacije po strukturi zaposlenih i vrsti usluga bliže suvremenom konceptu rane intervencije, koji se fokusira i nadijete i na njegove roditelje te nije dominantno usmjeren na motorički aspekt djetetovog razvoja. Tako privatni sektor dopunjava onošto državni ne daje, ali te usluge roditelji moraju sami plaćati.
Hipoglikemija – nuspojava terapije propranololom dojenačkih hemangioma – prikaz triju slučajeva
Authors: Rešić Arnes , Premilovac Zdenka Pleša , Jurić Filip , Mesić Marko
Published: November 2024

Peroralno primijenjen propranolol u dozi od 1-3 mg/kg/dan terapija je izbora kompliciranih hemangioma dojenačke dobi. Prikazujemo dva bolesnika s nastankom simptomatske hipoglikemije i jednog bolesnika s nastankom konvulzija najvjerojatnije povezanihs hipoglikemijom, koji su na peroralnoj terapiji propranololom radi liječenja dojenačkih hemangioma. Iako se propranolol priličnodugo primjenjuje u drugim indikacijama, i čini se pouzdanim lijekom, baš zbog svoje neselektivnosti u djelovanju potrebno je prepoznati moguće i rjeđe nuspojave kao što je hipoglikemija, posebice u novim indikacijama za primjenu lijeka kao što je liječenjedojenačkih hemangioma u proliferativnoj fazi rasta.
Akutni hemoragijski edem dojenčadi
Authors: Premilovac Zdenka Pleša , Pasini Agneza Marija , Vacka Iva Kolaček , Pustišek Nives , Pustišek Nives , Gagro Alenka
Published: November 2024

Akutni hemoragijski edem dojenčadi je vaskulitis malih krvnih žila koji se najčešće javlja u djece do druge godine života. Ograničenje na kožu te ima dobru prognozu. Cilj rada je prikaz bolesnice s akutnim hemoragijskim edemom, tipične kliničke slike i tijeka, kakobismo naglasili nekompliciran i benigni karakter bolesti koja ima dramatičnu kliničku prezentaciju pa može uzrokovati diferencijalno-dijagnostičke dvojbe.
Lower leg atrophy in congenital talipes equinovarus
Authors: Bohner-Beke Aliz , Leidecker Eleonóra , Koch Tamás , Sramó András , Kránicz János
Published: November 2024

Although several authors have addressed calf atrophy, there is no study comparing cases with a sizable control group or describing the development of healthy calf musculature. Keeping in mind the neuromuscular origin of clubfoot, the authors aimed to fi nd out whether the “unaff ected” foot is really unaff ected in the unilateral clubfoot, and whether its circumference fails to reach the expected measure. The authors examined 60 clubfeet of 40 cases (mean age: 18, range: 3-30 years) and recorded their body weight, height, lower leg length and circumference. To record the same values in healthy controls, the same person examined 1086 feet of 543 subjects aged 4-22 (mean age: 12.5 years). According to the measured values, lower leg length strongly correlates with body height and circumference with body weight. This means the most important developmental trends of these parameters can be demonstrated with polynomial regression models. In unilateral clubfoot, the mean diff erence in lower leg length and circumference between the aff ected and unaff ected leg was 0.86 cm and 3.13 cm, respectively. Atrophy of the unaff ected leg can be justifi ed at 10% signifi cance level. In the case of bilateral clubfoot, the diff erence in length and circumference is justifi ed by numerical results. By recording lower leg length and circumference in controls, the authors pioneered documenting the parameters of healthy calf muscle development. These data can be used to determine the rate of developmental failure in bilateral clubfoot and to reveal the possible involvement of the unaff ected leg in unilateral clubfoot.
Čimbenici rizika i ozljede djece pri obavljanju poljoprivrednih poslova u Požeško-slavonskoj županiji
Authors: Holcer Nataša Janev , Biloš Ivana Brkić , Jurić Filip , Rešić Arnes , Vugrinčić Marija
Published: November 2024

Uz obavljanje poljoprivrednih poslova vezani su brojni zdravstveni problemi i ozljede. Djeca na obiteljskim posjedima obavljajurazličite poljoprivredne poslove, koji ih izlažu brojnim opasnostima i zdravstvenim rizicima što mogu uzrokovati ozljede. Cilj je utvrditi postojeće stanje zaštite zdravlja i sigurnosti djece u poljoprivrednim kućanstvima u Požeško-slavonskoj županiji, opasnosti ištetnosti što se javljaju prilikom obavljanja poljoprivrednih poslova radi uređivanja i donošenja specifi čnih mjera za zaštitu zdravljakojima se mogu otkloniti i smanjiti ozljede. Upitnikom su prikupljeni podatci o poljoprivrednim poslovima što su ih su djeca obavljala, najčešćim ozljedama i primjeni zaštitne opreme. Istraživanje provedeno od rujna 2011. do svibnja 2012. godine pokazalo je da od188-ero praćene djece njih 52,1% svakodnevno obavlja različite poljoprivredne poslove. Ozljede nastale prilikom obavljanja poljoprivrednih poslova, okarakterizirane kao lakše i teže, zadobilo je 30,6% ispitanika. Najveći broj nastalih ozljeda uzrokovale sumehaničke sile pri radu s poljoprivrednim strojevima, raznim ručnim alatima i pri radu sa životinjama. Na djecu kao članove poljoprivrednih kućanstava ne primjenjuju se mjere i pravila sigurnosti za osiguranje njihove zaštite zdravlja, ni nadzor nad njihovomprimjenom temeljem postojećih zakona, jer nije zasnovan radni odnos. Prikazani podatci o stanju zaštite zdravlja djece upućuju napotrebu proširivanja istraživanja zdravstvenog statusa djece u ruralnim područjima Republike Hrvatske i utjecaja obavljanja poljoprivrednih poslova na pojavu ozljeda i bolesti, kao i pristupanju uređivanja i donošenja mjera kojima bi se djeci, kao članovimapoljoprivrednih kućanstava, osigurali sigurniji uvjeti rada i zaštite zdravlja.
Pimekrolimus u lokalnom liječenju atopijskog dermatitisa
Authors: Rezaković Saida , Kostović Krešimir , Čeović Romana
Published: November 2024

Pimekrolimus je topički (lokalni) inhibitor kalcineurina. Riječ je o makrolaktamu s imunosupresivnim svojstvima. Pimekrolimus je prviizbor u lokalnom liječenju atopijskog dermatitisa na osjetljivim i tankim područjima kože lica (osobito na području vjeđa), vrata,spolovila, aksila i prepona, kao i za duže liječenje. Uz to se preporučuje kao drugi izbor kod bolesnika s blagim do umjereno teškimatopijskim dermatitisom koji ne podnose lokalne kortikosteroide ili kod izostanka djelovanja lokalnih kortikosteroda. Pravodobnomupotrebom pimekrolimusa mogu se spriječiti jače egzacerbacije bolesti kao i produljiti razdoblje remisije. Učinkovito smanjuje svrbežkao vodeći simptom atopijskog dermatitisa unutar 48 sati od početka liječenja. Pimekrolimus značajno poboljšava kakvoću životabolesnika i njihovih roditelja i smanjuje potrebu za primjenom kortikosteroida. Ima dobru podnošljivost i sigurnosni profl i. Za razlikuod kortikosteroida ne dovodi do atrofi je kože i ne povećava učestalost nastanka kožnih infekcija. Najčešća neželjena pojava je prolazni osjećaj topline ili pečenja na mjestu primjene lijeka tijekom prvih nekoliko dana. Napokon, u oko 80% bolesnika s atopijskimdermatitisom indicirana je primjena pimekrolimusa, dok je kortikosteroide na lice i ostala osjetljiva područja dopušteno primjenji vatiiznimno, i to najviše 3-4 dana.
Immature colonic ganglion cells as a cause of megacolon in infancy: case report
Authors: Pavkov Danijela Jojkić , Vislavski Melanija , Vučković Nada , Petrovački Bojana , Djolai Matilda , Marinković Smiljana , Mitrović Milena
Published: November 2024

Congenital megacolon or Hirschsprung’s disease was fi rst described by Harold Hirschsprung. It is a congenital intestinal aganglionosis as a result of arrested fetal development of the myenteric nervous system. Normal intestinal motility depends on a coordinated segmental contraction waves followed immediately by smooth muscle relaxation as it propagates caudally. Patients with Hirschsprung’s disease lack functional myenteric nervous system in the aff ected distal intestine and have ineff ective distal peristalsis. The clinical outcomes are failure to pass meconium shortly after birth, constipation, abdominal distension, palpable loops of bowel, vomiting, watery diarrhea in the newborn, poor weight gain, slow growth and malabsorption. The aganglionic distal segment of the bowel is the reason for dilatation of the proximal part of the colon or opening debility of the anal sphincter system. Hirschsprung’s disease is aff ecting 1:5000 to 1:8000 live births. Most cases are diagnosed before the patient is 10 years of age. Occasionally, patients present with this problem at a later age. Recently we operated on a 12-year-old patient with this condition. First we performed surgical resection of the rectosigmoid colon with closure of the rectal stump and formation of an end colostomy, also known as Hartmann’s procedure. Three months later, the rectum was extirpated and coloanal anastomosis formed. Based on the uneventful postoperative course, good patient’s condition and clinical tests, the treatment of congenital megacolon was successful.
Subcutaneous fat necrosis of the infant
Authors: Milankov Olgica , Savić Radojica , Bjelica Milena , Katanić Dragan , Lovrenski Jovan , Vučković Nada
Published: November 2024

Subcutaneous fat necrosis of the newborn and infant is a rare disease, with still unknown incidence, which usually occurs in term or post-term newborns that have experienced perinatal stress. It usually occurs within the fi rst six weeks of newborn’s life; however, onset of the disease may be delayed for several months. A 6-week-old female infant was admitted to our department due to failure to thrive, irritability and vomiting. Physical examination in the area of the inner thighs, hips, back and shoulders, revealed the presence of subcutaneous infi ltrations, which were fi rm, slightly livid, and did not seem painful to touch. Laboratory analysis showed hypercalcemia, ultrasonographic review of body fat revealed hyperechogenicity, while abdominal ultrasound revealed nephrocalcinosis. Computerized tomography detected the presence of calcifi cations in the brain. Deep skin biopsy confi rmed the diagnosis of subcutaneous fat necrosis. Treatment included fl uid loading, termination of vitamin D substitution, and low calcium diet. Single doses of calcitonin and pamidronate were administered. After this therapy, calcium levels returned to normal range. Subcutaneous infi ltrates gradually decreased and became softer. In most reported cases, regression of skin lesions is expected after a few months, often without any residue on the skin. Elevated serum calcium may persist long after the withdrawal of cutaneous lesions, which is the reason for continuous monitoring of serum calcium and appropriate treatment in case of hypercalcemia in order to prevent metastatic calcifi cation.
Prvi izvorni povijesni prilog o promicanju dojenja u stručnoj medicinskoj tiskanoj literaturi u Austro-Ugarskoj Monarhiji na hrvatskom jeziku
Authors: Fureš Rajko , Habek Dubravko
Published: November 2024

Na tragu ozračja carskog zakona o javnom zdravstvu vladarice Austro-Ugarske Monarhije carice Marije Terezije, ostvarene su brojnepozitivne promjene na području svih zemalja carstva, pa tako i Hrvatske. Veliku zaslugu za to ima i Ivan Krstitelj Lalangue, jedan odnajznamenitijih liječnika koji je živio i djelovao na prostoru Hrvatske, čije je djelovanje u drugoj polovini XVIII. stoljeća znatno unaprijedilo hrvatsko javno zdravstvo, a posebno primaljstvo. Lalangue je autor prvih stručnih originalnih medicinskih tiskanih knjigana hrvatskom jeziku. Analizirajući Lalangueov prvi hrvatski primaljski udžbenik „Brevis institutio de re obstetritia iliti kratek navuk odmestrie pupkorezne za potrebochu muskeh y sziromaskeh ladanskeh sen horvatskoga orszaga y okolo nyega blisnesseh sztrankih“iz 1777., naišli smo i na prvi tiskani stručni originalni zapis o promociji dojenja u Austro-Ugarskoj Monarhiji na hrvatskom jeziku.Utjecaj prvog hrvatskog primaljskog udžbenika i priloga o promicanju i korisnosti dojenja doista je izniman, što potvrđuju suvremena postignuća na planu promocije dojenja u Republici Hrvatskoj
Slikovne dijagnostičke metode u dijagnostici vezikoureteralnog refl uksa: od početaka do danas
Authors: Roić Goran , Roić Andrea Cvitković , Grmoja Tonći , Grmoja Tonći , 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
Endoskopsko liječenje subluksacije peronealnih tetiva u trinaestogodišnjeg dječaka
Authors: Bojanić Ivan , Dimnjaković Damjan , Smoljanović Tomislav , Lovrić Dražen
Published: November 2024

Subluksacija peronealnih tetiva unutar omotača novi je klinički entitet koji danas možemo uspješno liječiti tendoskopijom peronealnih tetiva. Bolesnici se, bez ikakvih podataka o ranijoj ozljedi gležnja, žale na vidljiv i palpabilan preskok peronealnih tetivakoji moguizazvati jedino sami, i to aktivnom, maksimalnom kretnjom dorzifl eksije i everzije stopala i gležnja, dok se nikakvom pasivnomkretnjom gležnja on ne može izazvati. Opisana su dva tipa subluksacije: u tipu A tetiva peroneusa longusa subluksira se ispred tetiveperoneusa brevisa, dok se u tipu B tetiva peroneusa longusa subluksira kroz uzdužni rascjep na tetivi peroneusa brevisa, akarakteristično je da oba tipa subluksacije nastaju bez ozljede gornjeg peronealnog retinakula. Od slikovnih metoda od pomoći udijagnostici je dinamički UZV, dok MR i CT pomažu u eventualnom uočavanju uzroka nastanka subluksacije peronealnih tetiva teplaniranju kirurškog liječenja, jer se neoperacijsko liječenje pokazalo nedostatnim. Prikazujemo slučaj trinaestogodišnjeg dječaka ukojeg smo dijagnosticirali tip A subluksacije peronealnih tetiva i kojeg smo uspješno izliječili tendoskopijom peronealnih tetiva. Prednosti ovog minimalno invazivnog kirurškog zahvata su bolji estetski rezultat, manja poslijeoperacijska bolnost, brža poslijeoperacijska rehabilitacija i zadovoljniji bolesnici. Valja istaknuti još jednu prednost, a to je mogućnost konverzije u otvoreni kirurškizahvat u slučaju potrebe.
Sindrom Galloway-Mowat – prikaz bolesnika
Authors: Košuljandić Đurđica , Arapović Adela , Rogulj Marijana , Tomasović Maja , Čulić Vida , Meštrović Julije , Stričević Luka , Durdov Merica Glavina , Saraga Marijan
Published: November 2024

Prikazom ove bolesnice naglašavamo kako udruživanje nefrotskog sindroma, mikrocefalije i cerebelarne atrofi je u ranoj životnojdobi može biti rijetko opisivani Galloway-Mowatov sindrom (GMS). GMS obično prati kongenitalni ili rani dojenački nefrotskisindrom te progresivno gubljenje djetetovih neuroloških funkcija, katkad uz postojanje hijatus hernije. Bolesnici imaju lošu prognozui umiru u prvim godinama života. Iako se drži da se prenosi autosomno recesivno, odgovorni gen ili geni još je/su nepoznati. Iakopatohistološki nalaz također varira od minimalnih promjena do glomeruloskleroze, u podlozi bubrežne bolesti najčešće se nađe difuzna mezangijska skleroza. Mi opisujemo slučaj djevojčice s nefrotskim sindromom kao posljedicom difuzne mezangijske skleroze, mikrocefalijom, dismorfi jom lica, hipotrofi čnim cerebelumom i atrofi jom vermisa, progresivnim neurološkim propadanjem, kojana kraju umire zbog multiorganskog zatajenja.
Early diagnosis of pseudo-Bartter syndrome in a hot climate region. Importance of suspecting the possibility of this diagnosis
Authors: Ciampo Ieda Regina Lopes Del , Sawamura Regina , Ciampo Luiz Antonio Del , Facincani Inalda , Fernandes Maria Inez Machado
Published: November 2024

We report on a very young infant with cystic fi brosis diagnosed with pseudo-Bartter syndrome by neonatal screening at a reference center in a very hot climate region. She presented scarce clinical manifestations but showed all the corroborative laboratory changes. Although the clinical manifestations were not obvious, suspecting the possibility of this diagnosis in a hot climate region was essential for early diagnosis and subsequent intervention. We consider this an important aspect, since there is a current increase in the survival of patients with cystic fi brosis and in the ways to improve their health, so that they can enjoy better prognosis and quality of life.
Pediatric infl ammatory bowel disease: experience in a tertiary pediatric center
Authors: Pavić Ana Močić , Hojsak Iva , Mišak Zrinjka , Kolaček Sanja
Published: November 2024

The aim of the study was to assess the clinical features and diagnostic work-up in patients newly diagnosed with infl ammatory bowel disease in our center. We prospectively collected data on all children (N=158) diagnosed with infl ammatory bowel disease at our center from January 2004 to September 2012. During the 8.7-year period, 78 (49.4%) children were diagnosed with Crohn’s disease, 73 (46.2%) with ulcerative colitis and 7 (4.4%) with indeterminate colitis. Retrospective analysis yielded the following for Crohn’s disease: (a) the PCDAI at diagnosis was 29.4 (range 15-60); (b) the most common presenting symptoms were abdominal pain, diarrhea and weight loss; (c) 28 (35.9%) patients had stunted growth already at presentation; and (d) the predominant location was ileocolonic (n=48; 61.5%), perianal disease was found in 37 (47.4%) and upper gastrointestinal tract was aff ected in 26 (33.3%) patients; and for ulcerative colitis: (a) a signifi cant rise in the incidence was observed in the last two years; (b) the PUCAI at diagnosis was 26.2 (range 10- >65); (c) the most common presenting symptoms were diarrhea and blood in stool; and (d) most patients had extensive disease with either pancolitis (n=40; 54.7%) or extensive colitis (n=10; 13.4%). The role of small bowel follow through was dubious in our hands as it confi rmed endoscopically proven terminal ileum involvement in only 31.3% of Crohn’s disease patients. In conclusion, no diff erence was found in the incidence rate of Crohn’s disease and ulcerative colitis; moreover, towards the end of the study, more children were diagnosed with ulcerative colitis. Our patients presented with extensive form of the disease. In diagnostic work-up, magnetic resonance imaging enterography should be done whenever possible.
Prijelomi ključne kosti u zdrave donošene novorođenčadi
Authors: Zakanj Zora
Published: November 2024

Porođajne ozljede su čest razlog novorođenačkog pobola u inače zdrave novorođenčadi, s incidencijom od 0,2% do 37%. Prijelomključne kosti je najčešći među ozljedama kostiju u novorođenčeta. Cilj ove retrospektivne analize je utvrđivanje učestalosti prijelomaključne kosti u rodilištu naše ustanove tijekom jedne godine i prikaz perinatalnih okolnosti u kojima smo zabilježili te ozljede. Ujednogodišnjem razdoblju (od 01. 01.-31. 12. 2010.), u rodilištu je evidentirano 19-ero novorođenčadi s prijelomom ključne kosti.Analizirali smo podatke s majčine strane i s one novorođenčeta. Učestalost prijeloma ključne kosti u našem ispitivanju je 0,7%. Desnostrani prijelom je češći nego ljevostrani (61,7% : 36,8%). Nema statistički značajne razlike u porođajnoj masi dječaka i djevojčicas prijelomom ključne kosti (χ2=3,753, p>0,05). Samo jedno novorođenče s prijelomom ključne kosti rođeno je carskim rezom, a svaostala su rođena prirodnim putem (94,7%). Dvoje novorođenčadi (10,5%) imalo je frakturu zelenog drveta, a 17-ero (89,5%) imalo jepotpunu frakturu. Jedno dijete je uz prijelom ključne kosti imalo i prijelom lopatice. Kod ostalih ispitanika nisu nađeni drugi prijelomini koštane anomalije. Nijedno dijete nije imalo pridruženu Erbovu paralizu. Svi su prijelomi zacijeljeli bez komplikacija. Prijelomiključne kosti u novorođenačkoj dobi u našem rodilištu su na donjoj granici pojavnosti u odnosu na rezultate dosadašnjih studija iprognostički su povoljan oblik porođajne ozljede.
Vezikoureteralni refl uks i poremećaji funkcije donjeg mokraćnog sustava
Authors: Roić Andrea Cvitković , Roić Goran , Morić Bernardica Valent , Palčić Iva
Published: November 2024

Vezikoureteralni refl uks, koji je posljedica kongenitalne anomalije vezikoureteralnog spoja, dobro je poznat entitet. U posljednjihnekoliko desetljeća raste spoznaja o uskoj povezanosti poremećaja funkcije donjeg mokraćnog sustava i vezikoureteralnog refl uksa.Najčešći oblici poremećaja funkcije donjeg mokraćnog sustava koji su povezani s vezikoureteralnim refl uksom nestabilni su mokraćni mjehur (“overactive bladder”) i disfunkcijsko mokrenje. Brojni autori upućuju na povezanost refl uksa s neneurogenim i neurogenim disfunkcijama donjeg mokraćnog sustava. U ovom preglednom radu željeli smo naglasiti važnost prepoznavanja poremećajafunkcije donjeg urotrakta u djece s vezikoureteralnim refl uksom, s obzirom na to da je postojanje disfunkcije negativan prognostičkičimbenik za spontano povlačanje vezikoureteralnog refl uksa. Također, kirurško liječenje vezikoureteralnog refl uksa u djeteta sporemećajem funkcije donjeg urotrakta često rezultira neuspjehom. Važno je rano dijagnosticirati disfunkciju donjeg mokraćnogsustava kod svakog djeteta s vezikoureteralnim refl uksom zbog različitog dijagnostičkog i terapijskog pristupa.
Uretrovaginalni refl uks: prikaz bolesnika
Authors: Banožić Ljerka , Roić Goran , Klarić Andrea Šimić , Drkulec Vlado , Roić Andrea Cvitković
Published: November 2024

Cilj ovoga prikaza je uputiti na uretrovaginalni refl uks kao mogući i nerijetki uzrok dnevne inkontinencije u djevojčica školske dobi.Bolesnica je devetogodišnja djevojčica s recidivirajućim vulvitisima, recidivirajućim bakteriurijama i dnevnom inkontinencijom. Dopostavljanja konačne dijagnoze povremeno je liječena peroralnom antibiotskom i lokalnom antimikotskom terapijom. Ultrazvukbubrega i mokraćnog mjehura i urofl ow bili su uredni. Pri drugom UZV-u bubrega i mokraćnog mjehura prikazan je pun mokraćnimjehur, uz retrovezikalno tubularnu tvorbu veličine 4,8x2,6x6,8 cm, koja odgovara rodnici. Nakon mokrenja opisana tvorba se nijeispraznila, a nakon pritiska na trbuh došlo je do istjecanja mokraće, unatoč praznom mjehuru. Ovakav nalaz upućuje na uretrovaginalni refl uks. Magnetskom rezonancijom zdjelice isključena je mogućnost vezikovaginalne fi stule te je potvrđena dijagnoza uretrovaginalnog refl uksa.
Next generation sequencing – towards translation into clinical practice
Authors: Maver Aleš , Peterlin Borut
Published: November 2024

Despite substantial eff orts, the cause of a signifi cant proportion of mendelian disorders is still unknown. Recently, signifi cant advances in determination of nucleotide sequence present an opportunity to investigate the genetic material down to a single nucleotide resolution on the whole exome or genome scale. This opens complete possibilities for deciphering genetic etiology of genetic disorders and, most importantly, expanding the fi eld of genetic studies from limited cases of diseases occurring in large families to smaller familial confi gurations, making detection of causative genes possible even in trios of parents with a single aff ected proband. Despite the development in both the technology of next generation sequencing and increases in computational power for complex data analysis, the interpretation of results, making sense of genome-scale information in medical setting and conveying this information to the patient, have been lagging behind. In addition, novel ethical questions have opened, especially those related to reporting of incidental fi ndings. These issues are the key points for discussion prior to setting the protocols and guidelines for implementing the whole exome and genome sequencing into clinical practice. This overview will initially give a brief introduction to the technical background behind the next generation sequencing and methodological steps involved. Basic introduction to some of the key steps in data analysis of the next generation sequencing data and challenges encountered thereby will also be given, based on our experiences at the Centre for Mendelian Genomics in Slovenia.
: pharmacogenetics; drug toxicity; cytochrome P-450 enzyme system; TPMT; genetic testing
Authors: Božina Nada , Pejnović Lana
Published: November 2024

Varijabilnosti u učinku lijeka mogu se djelomično objasniti genetičkim razlikama. Postoje interindividualne razlike u metaboličkom itransportnom kapacitetu i detoksikaciji lijekova i drugih ksenobiotika. Osjetljivost na toksične učinke jednim dijelom ovisi ogenetičkom polimorfi zmu metaboličkih enzima faze I. i faze II. Za kliničku praksu najvažniji polimorfi zmi u fazi I. su CYP2C9, CYP2C19,CYP2D6 i CYP3A4/5, a u fazi II. su TPMT, UGT1A1, NAT2, SULT. Najjasniji utjecaj imaju inaktivirajući i aleli s pojačanim učinkomCYP2C19 na ishod liječenja klopidogrelom, kao i ozbiljne nuspojave na primjenu kodeina u vrlo brzih metabolizatora za CYP2D6.Drugi je značajan utjecaj zapažen u slučaju neučinkovitosti antidepresiva, suicidalnost u osoba vrlo brzih metabolizatora, te nuspojave lijekova u sporih metabolizatora za CYP2D6. Bolesnici nositelji neaktivnih alela CYP2C9 imaju povećan rizik predoziranjalijekovima-supstratima, što može dovesti do intoksikacije fenitoinom, ili krvarenja u slučaju kumarinskih antikoagulanata ili nesteroidnih protuupalnih lijekova. Postoje smjernice za genotipizaciju TPMT u slučaju primjene tiopurinskih lijekova, kao i pre poruke za analizu UGT1A1 za optimizaciju terapije irinotekanom te DPYD u slučaju primjene 5-fl uorouracila. Od transportnih proteinapreporučuje se genotipizacija SLCO1B1 za bolju prevenciju nuspojava pri primjeni statina. Najnovije smjernice ističu snažnu predispoziciju nositelja alela HLA-B*5701 za razvoj preosjetljivosti na abakavir. Za bolje razumijevanje varijabilne učinkovitost nekoglijeka u pedijatrijskoj populaciji potrebno je, uz genetičku predispoziciju, razumjeti i razlike u ekspresiji gena tijekom rasta i razvoja, tj.ontogenezu.