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Protein p53 transkripcijski je faktor koji regulacijom ekspresije mnogo različitih gena sudjeluje u supresiji tumora. Mutacije gena p53 uočene su u više od 50% tumora. Pokazano je da se mutirani protein p53 ponaša kao onkogen. U melanomu rijetko dolazi do mutacije gena p53, no uočeno je kako je tumor supresorska funkcija proteina p53 svejedno narušena. Pokazano je da određeni proteini obitelji p53, NME i GLI sudjeluju u razvoju melanoma. Naša je pretpostavka da mehanizmu inaktivacije divljeg tipa proteina p53 u melanomima pridonose određene proteinske interakcije. Zbog toga smo proveli ispitivanje mogućih interakcija između proteina p53 i proteina obitelji p53, NME i GLI. Dobiveni rezultati pokazali su da protein p53 stupa u interakciju s izoformama del133p53alfa, TAp73alfa, Tap73beta i delNp73alfa. Ovi rezultati dobiveni na egzogenim proteinima mogu ukazati na to koje se interakcije mogu očekivati na endogenim proteinima i koji bi proteini mogli poslužiti kao moguće mete u liječenju melanoma p53 protein is a transcription factor that suppresses tumour formation through regulation of expression of many different genes. p53 gene is mutated in more than 50% of all tumours. It has been shown that mutations transform its tumour suppressor nature to an oncogenic one. p53 is rarely mutated in melanoma, however, his tumour suppressor activity in these tumours is still impaired. It has been shown that specific members of p53, NME and GLI protein family take part in melanoma formation. Therefore, we hypothesised that the p53 activity in melanoma could be impaired by interactions with certain proteins. Based on that, we have tested if p53 interacts with p53, NME and GLI protein family members. The obtained results show that p53 interacts with del133p53alfa, TAp73alfa, Tap73beta and delNp73alfa isoforms. These results, obtained with exogenous proteins, might be an indication of possible interactions with endogenous proteins and point out possible targets in treating melanoma.

Maligna oboljenja jedan su od glavnih uzroka smrti u svijetu. Karakteristika malignih stanica je nekontrolirana proliferacija te se stoga maligne stanice brzo razmnožavaju i prodiru u druga tkiva. Uzroci malignih oboljenja su brojni što dokazuju i razne studije i znastvena istraživanja. Danas postoji mnogo metoda liječenja malignih oboljenja, a koja metoda će se primijeniti određuje se ovisno o vrsta tumora i njegovoj uznapredovalost. Lijekovi koji se koriste u liječenju malignih oboljenja nazivaju se citostatici. Metotreksat je citostatik koji spada u skupinu antimetabolita, on je analog folne kiseline. Djelovanje metotreksata temelji se na inhibiciji dihidrofolat-reduktaze, enzima važnog u sintezi deoksitimidin monofosfata. Inhibicijom spomenutog enzima, metotreksat inhibira sintezu deoksitimidin monofosfata i tako onemogućava sintezu deoksiribonukleinske kiseline (eng.deoxyribonucleic acid-DNA). Metotreksat uz dihidrofolat-reduktazu inhibira i druge enzime važne u sintezi purina, serina i metionina. Budući da je polarna molekula za njegov prijenos potrebni su transporteri za prijelaz krvno-moždane barijere. Metotreksat se u stanici prevodi u metotreksat poliglutamate, 2, 4-Diamino-N-10-metil-pteroičnu kiselinu i 7-hidroksi metotreksat. Metotreksat poliglutamat je aktiviran oblik metotreksata i može sadržavati do 6 glutamatskih ostataka. Primjenom metotreksata stanice razvijaju određenu otpornost prema lijeku zbog čega je prilikom liječenja potrebno povećavati dozu ili smanjivati vremenske intervale između primjene lijeka. Metotreksat se može primijeniti intratekalno, oralno, intravenozno ili intramuskularno. Prilikom korištenja metotreksata potrebna je stroga kontrola koncentracije metotreksata u krvi zbog jakog toksičnog djelovanja.

Cilj: Prikazati rezultate liječenja bolesnika s bilijarnom atrezijom (BA) te identificirati prediktivne čimbenike dugoročnog preživljenja bolesnika s vlastitom jetrom. Metode: Provedena je retrospektivna analiza kohorte 38 bolesnika liječenih u KBC-u Rebro tijekom 25godišnjeg razdoblja (siječanj 1984.-prosinac 2008.). Ispitanici su razvrstani u dva oblika bolesti: perinatalni - u kojih je žutica nastala nakon anikteričnog perioda ili se nadovezala na novorođenačku žuticu, a akolične stolice se pojavile nakon sedmog dana života i fetalni - u kojih je žutica bila manifestna po porodu, a stolice akolične unutar prvih tjedan dana života. Inicijalni uspjeh hepatoportoenterostomije (HPE) definiran je pojavom obojanih stolica i nestankom žutice uz ukupni bilirubin u serumu

Rad analizira vrijednost Waugh-ovog postulata retrospektivnim prikazom 88 djece operirane u 10-godišnjem periodu zbog intususcepcije. Zaključak istraživanja jest: malrotacija i intususcepcija su nerijetko udružena patološka stanja. Ipak, nema čvrstih radioloških znakova uzročne povezanosti i pojavnosti ovih dviju patologija.

Outcome of postoperative treatment in newborns with anomalies of alimentary system and abdominal wall

short-term outcome in newborns who were surgically treated

Congenital pulmonary arteriovenous fistula is a rare malformation in which pulmonary arteries and veins communicate, shunting the pulmonary and systemic circulations. Fistulas may be relatively well circumscribed with dilated afferent and efferent vessels or they may be diffuse racemose malformations involving an entire lobe or a major portion of a lobe. The clinical manifestation depend on the magnitude of the right to left shunt. When the shunted blood exceeds 20-30% of the cardiac output, cyanosis is usually observed. Cyanosis and dyspnea with bronchopulmonary symtoms are common clinical features in children. The hypoxia leads to polycytaemia and digital clubbing. Complications occur in children in more than 1/3 of cases, with a lethality of 40%. It is impossible to predict which patients will develop serious complications, so all cases, even asymptomatic, should be considered severe.Diagnosis can be established by physical examination and chest radiography. Pulmonary angiography, contrast echocardiography and radionuclide perfusion on lung scintigraphy can be used as screening methods. Cardiac catheterization helps in differentiating it from cardiac lesions. Once the diagnosis has been established, surgical treatment is recommended, even in asymptomatic paatients. Postoperative morbidity and mortality are very low. Conservative therapy should be reserved for inoperable cases. From 1980 until april 1997, five patients with congenital pulmonary arteriovenous fistula were seen at the Dept. of pediatric surgery, University Hospital Centre, School of medicine, Zagreb. Their age ranged from 1, 3 do 12, 5 years ( 1 boy and 4 girls). All of them had symptoms of blu child with no signs of heart failure. In one of girls the fistula wqas associated with hereditary hemorrhagic teleangiectasia ( Rendu-Osler-Weber disease). After surgical procedure, four patienst had no postoperative complications and they are well. The last girl developed symptoms of cerebral embolism with consecutive hemiplegia, 32 hours after the oeration. She in recovering well All patients became symptom-free with disappearance of cyanosis.

Gender assignment in a child with ambiguous genitalia often is difficult and requires a full understanding of all factors involved, including chromosomal sex, anatomy of internal and external genital structures, gonadal function, predilection of gonads for malignancy, potential fertility and parental atitudes. These patients represent four major etiologic groups: adrenogenital syndrome, male pseudohermaphroditism, mixed gonadal dysgenesis and true hermaphroditism. Evaluation of a newborn with ambiguous genitalia should include a careful family history, physical examination and karyotype.On physical examination we look for a) bifid scrotum, b)labial rugae, c)hypospadias, d) chorde, e) gonads above or below the inguinal ring, f)palpation of an epididymis on the gonad, and g)a midline uterus during the rectal examination. Always are indicated to contrast studies of the urogenital system what also consist retrograde genitogram, pelvic ultrasound examination, then do biochemical evaluation and endoscopy studies.In patients with mixed gonadal dysgenesis, male pseudohermaphroditism and true hermaphroditism exploratory laparotomy and extraction of gonads is done first. The essential components of perineal reconstruction in infants to b e raised as females are 1( clitoral resection with preservation of glans, 2) flap vaginoplasty and 3)labioscrotal reduction. Till now , we have done feminizing genitoplasty reconstruction in 47 infants and children with ambiguous genitalia. These included 20 patients with adrenogenital syndrome or female pseudohermaphroditism, 16 with mixed gonadal dysgenesis, 11 male pseudohermaphroditism and one true hermaphroditism.

The clinical course of a 13-year old boy suffering from idiopathic granulomatous hepatitis associated with CD4+ lymphocytopenia is reported.The serology on human immunodeficiency virus was negative.The possible background of this association, previously not reported in children, as well as the diagnostic dilemmas during the five-year follow-up are described.

Pheochromocytoma is a rare tumor of chromaffin tissue of the adrenal gland that synthesizes, stores and releases cathecolamines. In 10% of the patients it arises outside the adrenal gland, and has been called paraganglioma. The following study describes our experience in the diagnostic process and treatment of pheochromocytoma in two children, a 8-year-old boy with the right ureteral paraganglioma, and a 8-year-old girl with pheo- chromocytoma of the leftsuprarenal gland. Characteristic clinical features with predominant signs of hypertension, as well as the diagnostic flow diagram, have been presented. We have analysed recent diagnostic possibilities, sensitivity of diagnostic methods (ultrasonography, CT, selective angiography and J131 MIBG scintigraphy), indications for their use, and the importance of appropriate preoperative management. The major role of the J131-metaiodobenzilguanidine scintigraphy in diagnostic assessment, especially in precise preoperative localization and postoperative verification of tumour removal, has been stressed.

U radu se prikazuju slučajevi slijepog uretera, rijetke anomalije u djece.

Prikazuju se bolesnici s divertikulumom uretera ili slijepim završetkom uretera i raspravlja o klasifikaciji ovih anomalija.

U radu se iznose vlastita iskustva s PTRA u liječenju arterijske hipertenzije u djece.

U radu se prikazju slučajevi hipospadije, rijetke anomalije u djevojčica.

U radu se iznose suvremena saznanja o uretralnim valvulama u djece.

Opsiju se pacijenti u kojih je nakon antirefluksne operacije došlo do normalizacije renalne hipertenzije.