Kartagenerov sindrom- vrlo rijedak uzrok novorođenačkog distres sindroma

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.U našem radu opisujemo novorođenče s respiratornim distresom udruženim sa situs viscerum inversusom. Na Kartagenerov sindrom posumnjalo se zbog respiratornog distresa, ovisnosti o kisiku, atelektaze, gustog nosnog sekreta, produktivnog kašlja i potpunog situs viscerum inversusa. Dijagnoza primarne cilijarne diskinezije potvrđena je elektronskom mikroskopijom. Naša sugestija je da treba razmotriti postojanje primarne cilijarne diskinezije, unatoč njenoj rijetkosti, u svakog novorođenčeta s neobjašnjivim respiratornim distresom. Također želimo naglasiti dijagnostičku važnost gustog nosnog sekreta i produktivnog kašlja, koje oboje vrlo rijetko viđamo u novorođenčadi. Rano postavljena dijagnoza PCD-a bitan je korak u ranom započinjanju fi zikalne terapije kao i potrebne multidisciplinske skrbi, što osigurava očuvanje što duže plućne funkcije u ove genske bolesti. Prema našim spoznajama, ovo je prvi opisani slučaj novorođenčeta s potvrđenom dijagnozom Kartagenerovog sindroma u Hrvatskoj

Novi način liječenja bilateralnog varus deformiteta kuka korištenjem „pločice osmice“ kod djece s kongenitalnom spondiloepifizealnom displazijom

Spondyloepiphysal dysplasia congenita (SEDc) is a rare autosomal dominant genetic disorder. Femoral head ossification delay and the proximal femur varus deformity i.e. coxa vara (CV) are the major features of SEDc. The accepted treatment is a valgus femoral osteotomy. The data on hip surgery in SEDc are scarce. In our database from 2006 to 2020, there were 6 SEDc patients. Four patients had surgery on 8 hips. Surgical treatment was indicated due to progressive CV deformity i.e. a decreasing neck-shaft angle (NSA), pain, limited hip abduction, and gait disturbances. In three patients, a novel surgical treatment was applied – a greater trochanter apo-physiodesis using “Eight-plate”. The patients were evaluated clinically and radiologically. The median age at first surgery was 6.3 years (range, 3.2 to 9.5 y) and the median follow-up period was 7 years (range, 5.6 to 14 y). The postoperative NSA was significantly improved with a mean increase of 13 degrees (P<0.001). Additional surgeries were needed in two patients. Overall, our results showed improved clinical and radiological parameters. The purpose of this study was to determine whether a method using an “Eight- plate” applied early to greater trochanter apophysis in SEDc patients with bilateral CV could reduce the need for more aggressive surgery in near future.Spondiloepifizna displazija kongenita (SEDc) je rijedak autosomno dominantan genetski poremećaj. Glavna značajka SEDc je odgoda okoštavanja glave bedrene kosti i varusna deformacija proksimalnog femura, tj. coxa vara (CV). Prihvaćeno liječenje je valgus osteotomija proksimalnog femura. Podaci o operaciji kuka u SEDc pacijenata su oskudni. U našoj bazi od 2006. do 2020. bilo je 6 SEDc pacijenata. Četiri pacijenta imala su 8 operacija kukova. Indikacija za kirurško liječenje bila je progresivna CV deformacija tj. smanjenje vratno-dijafizičnog kuta (NSA), bol, ograničena abdukcija kuka i poremećaji hoda. Kod tri pacijenta primijenjeno je novo kirurško liječenje - apofiziodeza velikog trohantera pomoću “pločice osmice”. Bolesnici su praćeni klinički i radiološki. Medijan dobi kod prve operacije bio je 6,3 godine (raspon od 3,2 do 9,5 godina), a medijan praćenja 7 godina (raspon od 5,6 do 14 godina). Postoperativni NSA je značajno poboljšan s prosječnim povećanjem od 13 stupnjeva (P<0,001). Dva pacijenta su trebala dodatne operacije. Sve u svemu, naši su rezultati pokazali poboljšane kliničke i radiološke parametre. Svrha ove studije bila je utvrditi može li metoda koja koristi “pločicu osmicu”, rano primijenjena na apofizu velikog trohantera kod SEDc pacijenata s obostranom CV-om, smanjiti potrebu za ekstenzivnijom operacijom u bliskoj budućnosti

In vitro effects of ascorbic acid on viability and metabolism of patients’ osteosarcoma stem cells

Stagnation in novelties of osteosarcoma (OS) treatment indicates the need for new therapeutic methods. OS cancer stem cells (OS-CSC) are taught to have the ability to self-renew and develop mechanisms of anticancer drug resistance, and this is why it is difficult to eradicate them. Their metabolism has been recognized as a potential target of therapeutic action. Ascorbic acid (AA) is considered to act pro-oxidative against OS-CSC in vitro by oxidative effect and by inhibition of glycolysis. This study examined an in vitro impact of AA on OS-CSC metabolism isolated from patients\u27 biopsies, with the aim of better understanding of OS-CSC metabolism and the action of AA on OS-CSC. OS-CSC were isolated using a sphere culture system and identified as stem cells using Hoechst 33342 exclusion assay. Determination of the dominant type of metabolism of OS-CSC, parental OS cells, human mesenchymal stem cells (hMSC) and U2OS OS lineage before and after AA treatment was done by Seahorse XF (Agilent). Cytotoxicity of high-dose AA was confirmed by the MTT test and was proven for all the examined cell types as well as HEK293. Seahorse technology showed that OS-CSC can potentially use both glycolysis and oxidative phosphorylation (OXPHOS), and can turn to glycolysis and slow metabolic potential in unfavorable conditions such as incubation in AA

Bilateral congenital knee dislocation associated with bilateral developmental hip deformities

Prirođena dislokacija koljena je relativno rijetka deformacija, a pogotovo udružena s deformacijom drugih zglobova. Djevojčica u ovom prikazu, rođena je s obostranom dislokacijom koljena i obostranim razvojnim poremećajem kuka u smislu iščašenja. Prvi pregled u ortopedskoj ambulanti obavljen je 21. dan nakon rođenja. Učinjena je radiološka i ultrazvučna dijagnostika i genetska obrada. Nisu nađeni elementi Larsenova sindroma kao ni artrogripoze. Djevojčica je liječena trakcijom na vertikalnom okviru i sadrenim redresmanom oba koljena. Nakon repozicije kukova aplicirao se aparat Hilgenreiner. Tek nakon repozicije oba kuka omogućila se redresmanom repozicija i puna fl eksija koljena. Nakon stabilizacije kukova i koljena aplicirani su remenčići prema Pavliku, koji su nošeni dva mj. Liječenje je trajalo do sedam mj. života djevojčice a svi postupci su praćeni ultrazvukom i RTG snimkama. Praćenje još traje.Congenital knee dislocation is a relatively rare entity, especially if associated with other joint deformities. We present a case of a girl with both congenital knee and hip dislocations who was followed-up for four years. She was fi rst referred to our department when she was three weeks old. Radiographic and ultrasound examinations, as well as genetic tests excluded Larsen’s syndrome and arthrogryposis. Traction on the vertical plane was applied to make closed hip reduction easier, after which we started serial knee casting. When reduced, hips were stabilized by Hilgenreiner’s orthosis, which enabled casting of the knees to be continued and fi nished successfully. After stabilization of the hips and knees, Pavlik’s harness was applied for two months. The treatment took seven months and all the steps were followed by radiographic and ultrasound imaging when needed

In vitro effects of ascorbic acid on viability and metabolism of patients’ osteosarcoma stem cells

Stagnation in novelties of osteosarcoma (OS) treatment indicates the need for new therapeutic methods. OS cancer stem cells (OS-CSC) are taught to have the ability to self-renew and develop mechanisms of anticancer drug resistance, and this is why it is difficult to eradicate them. Their metabolism has been recognized as a potential target of therapeutic action. Ascorbic acid (AA) is considered to act pro-oxidative against OS-CSC in vitro by oxidative effect and by inhibition of glycolysis. This study examined an in vitro impact of AA on OS-CSC metabolism isolated from patients’ biopsies, with the aim of better understanding of OS-CSC metabolism and the action of AA on OS-CSC. OS-CSC were isolated using a sphere culture system and identified as stem cells using Hoechst 33342 exclusion assay. Determination of the dominant type of metabolism of OS-CSC, parental OS cells, human mesenchymal stem cells (hMSC) and U2OS OS lineage before and after AA treatment was done by Seahorse XF (Agilent). Cytotoxicity of high-dose AA was confirmed by the MTT test and was proven for all the examined cell types as well as HEK293. Seahorse technology showed that OS-CSC can potentially use both glycolysis and oxidative phosphorylation (OXPHOS), and can turn to glycolysis and slow metabolic potential in unfavorable conditions such as incubation in AA