5 research outputs found
Kartagenerov sindrom- vrlo rijedak uzrok novoroÄenaÄkog 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 naÅ”em radu opisujemo novoroÄenÄe s respiratornim distresom udruženim sa situs viscerum inversusom. Na Kartagenerov
sindrom posumnjalo se zbog respiratornog distresa, ovisnosti o kisiku, atelektaze, gustog nosnog sekreta, produktivnog kaŔlja i
potpunog situs viscerum inversusa. Dijagnoza primarne cilijarne diskinezije potvrÄena je elektronskom mikroskopijom. NaÅ”a sugestija
je da treba razmotriti postojanje primarne cilijarne diskinezije, unatoÄ njenoj rijetkosti, u svakog novoroÄenÄeta s neobjaÅ”njivim
respiratornim distresom. TakoÄer želimo naglasiti dijagnostiÄku važnost gustog nosnog sekreta i produktivnog kaÅ”lja, koje oboje vrlo
rijetko viÄamo u novoroÄenÄadi. Rano postavljena dijagnoza PCD-a bitan je korak u ranom zapoÄinjanju fi zikalne terapije kao i
potrebne multidisciplinske skrbi, Å”to osigurava oÄuvanje Å”to duže pluÄne funkcije u ove genske bolesti. Prema naÅ”im spoznajama,
ovo je prvi opisani sluÄaj novoroÄenÄeta s potvrÄenom dijagnozom Kartagenerovog sindroma u Hrvatskoj
Novi naÄin lijeÄenja bilateralnog varus deformiteta kuka koriÅ”tenjem āploÄice osmiceā 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 ā a greater trochanter apo-physiodesis using āEight-plateā. 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 āEight- plateā 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 poremeÄaj. Glavna znaÄajka SEDc je odgoda okoÅ”tavanja glave bedrene kosti i varusna deformacija proksimalnog femura, tj. coxa vara (CV). PrihvaÄeno lijeÄenje je valgus osteotomija proksimalnog femura. Podaci o operaciji kuka u SEDc pacijenata su oskudni. U naÅ”oj bazi od 2006. do 2020. bilo je 6 SEDc pacijenata. Äetiri pacijenta imala su 8 operacija kukova. Indikacija za kirurÅ”ko lijeÄenje bila je progresivna CV deformacija tj. smanjenje vratno-dijafiziÄnog kuta (NSA), bol, ograniÄena abdukcija kuka i poremeÄaji hoda. Kod tri pacijenta primijenjeno je novo kirurÅ”ko lijeÄenje - apofiziodeza velikog trohantera pomoÄu āploÄice osmiceā. Bolesnici su praÄeni kliniÄki i radioloÅ”ki. Medijan dobi kod prve operacije bio je 6,3 godine (raspon od 3,2 do 9,5 godina), a medijan praÄenja 7 godina (raspon od 5,6 do 14 godina). Postoperativni NSA je znaÄajno poboljÅ”an s prosjeÄnim poveÄanjem od 13 stupnjeva (P<0,001). Dva pacijenta su trebala dodatne operacije. Sve u svemu, naÅ”i su rezultati pokazali poboljÅ”ane kliniÄke i radioloÅ”ke parametre. Svrha ove studije bila je utvrditi može li metoda koja koristi āploÄicu osmicuā, rano primijenjena na apofizu velikog trohantera kod SEDc pacijenata s obostranom CV-om, smanjiti potrebu za ekstenzivnijom operacijom u bliskoj buduÄnosti
In vitro effects of ascorbic acid on viability and metabolism of patientsā 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
PriroÄena dislokacija koljena je relativno rijetka deformacija, a pogotovo udružena s deformacijom drugih zglobova. DjevojÄica u
ovom prikazu, roÄena je s obostranom dislokacijom koljena i obostranim razvojnim poremeÄajem kuka u smislu iÅ”ÄaÅ”enja. Prvi pregled
u ortopedskoj ambulanti obavljen je 21. dan nakon roÄenja. UÄinjena je radioloÅ”ka i ultrazvuÄna dijagnostika i genetska obrada.
Nisu naÄeni elementi Larsenova sindroma kao ni artrogripoze. DjevojÄica je lijeÄena trakcijom na vertikalnom okviru i sadrenim
redresmanom oba koljena. Nakon repozicije kukova aplicirao se aparat Hilgenreiner. Tek nakon repozicije oba kuka omoguÄila se
redresmanom repozicija i puna fl eksija koljena. Nakon stabilizacije kukova i koljena aplicirani su remenÄiÄi prema Pavliku, koji su noÅ”eni
dva mj. LijeÄenje je trajalo do sedam mj. života djevojÄice a svi postupci su praÄeni ultrazvukom i RTG snimkama. PraÄenje joÅ” 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 Larsenās 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 Hilgenreinerās orthosis, which enabled casting of the knees to be continued and
fi nished successfully. After stabilization of the hips and knees, Pavlikās 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 patientsā 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 patientsā 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