Surgical treatment of congenital chest wall anomalies

Svrha ovog rada je prikazati etiologiju, kliničku sliku, radiološku dijagnostiku te kirurške mogućnosti liječenja kongenitalnih anomalija prsnog koša s posebnim osvrtom na suvremeni kirurški postupak liječenja minimalno invazivnom metodom. U kongenitalne anomalije prsnog koša ubrajamo rascjep prsne kosti, ljevkasta prsa, kokošja prsa, vratno rebro, aplaziju rebra te Polandov sindrom. Ljevkasta prsa su najčešća kongenitalna anomalija prsnog koša s učestalošću od 1:400 do 1:1000 novorođene djece. Anomalija je posljedica pomaka prsne kosti prema kralježnici, najčešće njezina ksifoidnog nastavka iako je katkad deformacijom zahvaćen i manubrijum. Kirurški zahvat, koji se može učiniti operativnom metodom po Sulamii ili minimalno invazivnom operativnom metodom po Nuss-u, može biti indiciran zbog izraženih simptoma od strane kardiovaskularnog i respiratornog sustava ili zbog psiholoških, kozmetičkih i socijalnih problema koje ova anomalija izaziva, posebice u skupini adolescenata, kada dolazi do izrazitog rasta i pogoršanja deformiteta. Uvođenjem minimalno invazivne operativne metode po Nuss-u, koja se na Klinici za dječju kirurgiju Klinike za dječje bolesti Zagreb počela primjenjivati od 2001. godine, klasične operacijske tehnike postale su dio prošlosti.The aim of this study is to describe the etiology, clinical presentation, radiographic diagnostics and surgical treatment options of congenital anomalies of the chest wall with special emphasis on contemporary surgical procedures by minimally invasive method. Congenital anomalies of the thorax include cleft sternum, funnel chest, pigeon chest, cervical rib, rib aplasia and Poland's Syndrome. Funnel chest is the most common congenital anomaly of the chest wall occurring in 1:400 to 1:1000 newborns. This anomaly is the result of the backward displacement of the sternum, usually the xiphoid process, towards the spine, although the manubrium can sometimes be affected by the deformation as well. Surgical procedure, which may be done by the Sulamii method or by the minimally invasive Nuss method, can be indicated in excessive expression of cardiovascular and respiratory symptoms, or due to psychological, social and cosmetic problems caused by such an anomaly. This is seen most prominently in the adolescent age group where profound growth occurs, with worsening of the deformity. By introducing the minimally invasive Nuss procedure, implemented at the Department of Pediatric Surgery, Children's Clinical Hospital Zagreb since 2001, classical surgical techniques have since become a part of the past

Surgical treatment of congenital chest wall anomalies

Svrha ovog rada je prikazati etiologiju, kliničku sliku, radiološku dijagnostiku te kirurške mogućnosti liječenja kongenitalnih anomalija prsnog koša s posebnim osvrtom na suvremeni kirurški postupak liječenja minimalno invazivnom metodom. U kongenitalne anomalije prsnog koša ubrajamo rascjep prsne kosti, ljevkasta prsa, kokošja prsa, vratno rebro, aplaziju rebra te Polandov sindrom. Ljevkasta prsa su najčešća kongenitalna anomalija prsnog koša s učestalošću od 1:400 do 1:1000 novorođene djece. Anomalija je posljedica pomaka prsne kosti prema kralježnici, najčešće njezina ksifoidnog nastavka iako je katkad deformacijom zahvaćen i manubrijum. Kirurški zahvat, koji se može učiniti operativnom metodom po Sulamii ili minimalno invazivnom operativnom metodom po Nuss-u, može biti indiciran zbog izraženih simptoma od strane kardiovaskularnog i respiratornog sustava ili zbog psiholoških, kozmetičkih i socijalnih problema koje ova anomalija izaziva, posebice u skupini adolescenata, kada dolazi do izrazitog rasta i pogoršanja deformiteta. Uvođenjem minimalno invazivne operativne metode po Nuss-u, koja se na Klinici za dječju kirurgiju Klinike za dječje bolesti Zagreb počela primjenjivati od 2001. godine, klasične operacijske tehnike postale su dio prošlosti.The aim of this study is to describe the etiology, clinical presentation, radiographic diagnostics and surgical treatment options of congenital anomalies of the chest wall with special emphasis on contemporary surgical procedures by minimally invasive method. Congenital anomalies of the thorax include cleft sternum, funnel chest, pigeon chest, cervical rib, rib aplasia and Poland's Syndrome. Funnel chest is the most common congenital anomaly of the chest wall occurring in 1:400 to 1:1000 newborns. This anomaly is the result of the backward displacement of the sternum, usually the xiphoid process, towards the spine, although the manubrium can sometimes be affected by the deformation as well. Surgical procedure, which may be done by the Sulamii method or by the minimally invasive Nuss method, can be indicated in excessive expression of cardiovascular and respiratory symptoms, or due to psychological, social and cosmetic problems caused by such an anomaly. This is seen most prominently in the adolescent age group where profound growth occurs, with worsening of the deformity. By introducing the minimally invasive Nuss procedure, implemented at the Department of Pediatric Surgery, Children's Clinical Hospital Zagreb since 2001, classical surgical techniques have since become a part of the past

Bilateral ovarian torsion during follow-up for antenatally detected ovarian cysts

Ovarian torsion is a surgical emergency demanding timely diagnosis and treatment to prevent loss of the ovaries which if happens may result in functional and emotional consequences. Simple (less than 5cm in size) ovarian cysts require follow-up for potential self-resolution. We describe a case of antenatally detected bilateral ovarian cysts that developed bilateral ovarian torsions on follow-up, postnatally

STERNAL CLEFT – REPORT OF THREE CASES

U posljednjih 25 godina operirali smo troje bolesnika s rascjepom prsne kosti, u dobi od 6 tjedana do dvije godine. Cilj je serije prikazati ovu izrazito rijetku kongenitalnu anomaliju te razlike u operativnom pristupu rascjepu prsne kosti ovisno o dobi bolesnika zbog fleksibilnosti prsnog koša. Bolesnici su se prezentirali znakovima rascjepa prsne kosti, dispozicioniranim sternoklavikularnim zglobovima te paradoksalnim gibanjem kože iznad samog defekta. Preoperativno su učinjeni rendgenogram i kompjutorizirana tomografija prsnog koša koji su pokazali dispozicionirane sternoklavikularne zglobove uz nepotpun rascjep u gornjem dijelu prsne kosti, te ehokardiografija kojom je nađeno ortotropično srce bez ­malformacija velikih krvnih žila. Kirurško liječenje sastojalo se od primarnog zatvaranja u dojenačkoj dobi, odnosno ­Sabistonove tehnike primijenjene u dvogodišnje djevojčice. Sve troje bolesnika uspješno je operirano bez komplikacija.During the last 25 years we surgically treated three patients with sternal cleft anomaly, aged from 6 weeks to 2 years. The aim of this case series is to present this extremely rare congenital anomaly and differences in the operative treatment of sternal cleft (SC) depending on patients age due to flexibility of the chest wall. Patients presented to us with signs of sternal cleft; displaced sternoclavicular articulations and paradoxical motion of the skin over the defect. Preoperatively we performed X-ray and computed tomography of the chest which revealed displaced sternoclavicular articulations with superior incomplete sternal cleft and echocardiography which showed orthotopic heart without malformations of the great vessels. Surgical treatment included primary closure in two infants and Sabiston’s technique in a two-year-old girl. All three patients were successfully operated without complications

Adolescence and doping

Želja za osvajanjem športskih natjecanja ili opsjednutost postizanjem savršene građe učinila je pojedine adolescente i djecu podložnima uzimanju tvari ili primjeni metoda zabranjenih u športu. U našem smo se pregledu dotakli većine istraživanja iz područja dopinga koja se usko odnose na adolescente kao na vulnerabilnu skupinu. U potrazi za literaturom služili smo se tražilicom PubMed. Pretraga je izvođena po svim poljima na temelju MeSH predmetnica, adolescen*, doping, sport*, youth drug abuse in sport uz upotrebu Booleova operatora AND. Pubmed tražilica ponudila je više od 500 rezultata. Pomnim čitanjem sažetaka i cjelovitih radova, uz definiranu tematiku zanimljivu za raspravu odabran je 41 rad. Nesporna je činjenica da sredstva nedopuštena u športu štetno utječu na zdravlje, rast i razvitak u adolescentnoj dobi. Unatoč kreiranju politike i strategije razvijenijih zemalja u borbi protiv dopinga, rezultati jasno upućuju na to da se i dalje intenzivnije mora raditi na programima obrazovanja, prevencije, zabrane i testiranja na sredstva zabranjena u športu.The desire to win sports competitions or obsession with achieving the perfect body structure has made some adolescents and children vulnerable to taking substances and use of methods prohibited in sports. In our review, we refer to most of the research in the field of doping that narrowly concerns adolescents as a vulnerable group. In our search of the literature, we used the free search engine PubMed. The search was made in all fields based on the MeSH thesaurus; adolescent *, doping, sport *, youth drug abuse in sport using the Boolean operator AND. Based on the aforementioned MeSH thesaurus, using the Boolean operator AND, the Pubmed search engine offered more than 500 results. Careful reading of abstracts and full papers with a defined topic of interest for discussion included 41 papers. In conclusion, it is an indisputable fact that illicit substances adversely affect adolescent health, growth and development. Despite development of the policies and strategies of developed countries in the fight against doping, the results clearly indicate that education, prevention, prohibition and testing programs on substances and methods prohibited in sports still need to be intensifie

Varicocele – a silent killer of male fertility?

Pod pojmom varikokele podrazumijevamo varikoznu dilataciju vena pampiniformnog spleta. Kod djece mlađe od 10 godina ovakav nalaz je rijedak, dok se u adolescenata javlja s učestalošću od oko 15 %. Nalaz varikokele može biti ljevostran, desnostran i obostran. U kliničkoj praksi najčešće nalazimo varikokele lijeve strane, što objašnjavamo retroperitonealnim anatomskim odnosima. Varikokela u adolescenata obično je asimptomatska, no može biti praćena bolovima u skrotumu. Za postavljanje dijagnoze najčešće su dovoljni klinički pregled i ultrazvuk. Budući da ovo stanje može uzrokovati dugoročnu supfertilnost pacijenta, ključno je pravovremeno donijeti odluku o operativnom zahvatu. Postoji više kirurških tehnika za rješavanje ove patologije. Donedavno su se operacije vršile isključivo tehnikom otvorenog transingvinalnog ili supraingvinalnog pristupa. Upotreba ostalih, manje invazivnih metoda, sve je češća.Under the term varicocele, we assume the varicose dilatation of the pampiniform plexus. In children under the age of 10, this is a rare finding, while it can be found in approximately 15 % of adolescents. Varicocele findings can be left-sided, right-sided and both-sided. In clinical practice, we mostly find left-sided varicoceles which can be explained by retroperitoneal anatomy. In adolescents, varicocele is usually asymptomatic, however it can also be accompanied by scrotal pain. For setting a diagnosis, a clinical examination paired with an ultrasound is mostly sufficient. Seeing as how this condition can cause long-term patient subfertility, it is of the utmost importance to make timely decisions on operating procedures. There are a number of surgical techniques that can be used to resolve the pathology. Until recently, operations have been conducted exclusively using the open transingvinal or supraingvinal technique. The use of other, less invasive methods is, however, becoming more often

Objedinjeni hitni bolnički prijam Klinike za dječje bolesti Zagreb – od osnutka do danas

U cilju neprekidnog hitnog medicinskog zbrinjavanja dje- latnost hitne medicine organizirana je kao javna hitna medi- cinska služba po modelu cjelovitog sustava izvanbolničke i bolničke djelatnosti. Organizira se i provodi na primarnoj, sekundarnoj i tercijarnoj razini zdravstvene zaštite. Djelat- nost hitne medicine na sekundarnoj i tercijarnoj razini zdravstvene zaštite obavlja ustrojstvena jedinica Objedinje- nog hitnog bolničkog prijama u bolnici u kojoj se provodi trijaža, pregled, postupci dijagnostike, stabilizacije i liječenja pacijenata. Objedinjeni hitni bolnički prijam Klinike za dječje bolesti Zagreb ustrojen je 3. lipnja 2014. godine

Molecular diagnostic methods in prenatal medicine

Prenatalna medicina u smislu probira kromosomskih abnormalnosti fetusa nastala je 70-ih godina prošlog stoljeća. U 21. stoljeću, s razvojem tehnologija napredne i brze analize genoma, kao što su kromosomalni microarray te sekvenciranje genoma sljedeće generacije, prenatalna dijagnostika proširila se s najčešćih aneuploidija na detekciju i brojnih drugih strukturalnih kromosomskih poremećaja (povećanje broja kopija gena, delecije, duplikacije), kao i monogenskih bolesti. Osim klasičnih invazivnih tehnika (biopsija korionskih resica, amniocenteza) kojima se prikupljaju stanice za citogenetičku i genomsku analizu, danas je moguće neinvazivno analizirati genom fetusa putem analize slobodne deoksiribonukleinske kiseline (DNK) (engl. cell-free deoxyribonucleic acid) izolirane iz krvi majke. S obzirom na svoju relativno veliku točnost, jednostavnost i mogućnost rane primjene, izgledno je da će ovakvo neinvazivno testiranje zamijeniti klasični probir u prvom tromjesečju koji je kombinirao biokemijske i fetalne ultrazvučne parametre. Nema sumnje da će neinvazivni probir analizom cfDNA, uz korištenje modernih tehnologija sekvenciranja, sve više postati dijagnostički iskoristiv u prenatalnoj medicini. Ipak, problem možda leži u analizi genomskih podataka gdje se katkad detektiraju promjene u slijedu nukleotida za koje je klinička signifikantnost nepoznata i još ne postoji jasno definiran postupnik kliničkog djelovanja nakon takvih podataka. Cilj ovog preglednog rada je iz različitih izvora, kliničkih podataka, preglednih članaka te metaanaliza izložiti koherentan pregled suvremenih probirnih i dijagnostičkih molekularnih metoda u prenatalnoj medicini. Istaknute su prednosti i mane korištenja metoda probira te analitičke mogućnosti pojedinih molekularnih metoda, s krajnjim kritičkim osvrtom i konceptualizacijom budućnosti ovakvih postupaka.Prenatal medicine, in terms of screening for fetal chromosomal abnormalities, originated in the 70s of the last century. In the 21st century, with the development of advanced and rapid genome analysis technologies, such as chromosomal microarray and nextgeneration genome sequencing, prenatal diagnostics has expanded from the most common aneuploidies to detection of many other structural chromosomal abnormalities (DNA copy number variations, deletions, duplications), as well as monogenic diseases. In addition to classical invasive techniques (chorionic villus sampling, amniocentesis) that collect cells for cytogenetic and genomic analysis, today it is possible to non-invasively screen the fetal genome by analysing cell-free DNA isolated from the mother’s blood. Given its relatively high accuracy, simplicity, and early application potential, it is likely that such non-invasive testing will replace classical first-trimester screening that combined biochemical and fetal ultrasound parameters. There is no doubt that non-invasive screening by cfDNA analysis, along with the use of modern sequencing technologies, will certainly become increasingly diagnostically useful in prenatal medicine. However, the problem may lie in the analysis of genomic data where variations in nucleotide sequences are detected, with unknown clinical significance, and there is not yet a clearly defined clinical action procedure after such data. The aim of this review paper is to present a coherent overview of modern screening and diagnostic molecular methods in prenatal medicine from various sources, clinical data, review articles, and metaanalyses. The advantages and disadvantages of using screening methods and the analytical possibilities of individual molecular methods are highlighted, with the ultimate critical review and conceptualization of the future of such procedures

Rascjep prsne kosti – prikaz troje bolesnika [Sternal cleft – report of three cases]

During the last 25 years we surgically treated three patients with sternal cleft anomaly, aged from 6 weeks to 2 years. The aim of this case series is to present this extremely rare congenital anomaly and differences in the operative treatment of sternal cleft (SC) depending on patients age due to flexibility of the chest wall. Patients presented to us with signs of sternal cleft; displaced sternoclavicular articulations and paradoxical motion of the skin over the defect. Preoperatively we performed X-ray and computed tomography of the chest which revealed displaced sternoclavicular articulations with superior incomplete sternal cleft and echocardiography which showed orthotopic heart without malformations of the great vessels. Surgical treatment included primary closure in two infants and Sabiston’s technique in a two-year-old girl. All three patients were successfully operated without complications

HYPERTROPHIC PYLORIC STENOSIS – FIVE-YEAR RETROSPECTIVE ANALYSIS

Iako nam u 21. stoljeću etiologija bolesti još nije u potpunosti razjašnjena, kliničko značenje bolesti je veliko jer je bolest u novorođenačkoj dobi česta u usporedbi s ostalim stanjima s kojima se bavi novorođenačka kirurgija. Uz suvremenu dijagnostiku hipertrofičnu stenozu pilorusa danas lako razlikujemo od ostalih diferencijalnih dijagnoza koja se očituju povraćanjem kao glavnim simptomom. Klinika za dječju kirurgiju Klinike za dječje bolesti Zagreb uspješno se nosi sa suvremenim izazovima kako ovoga tako i niza drugih stanja koja pogađaju novorođenčad. Kako bismo približili ovo stanje retrospektivno smo analizirali podatke 40-ero hospitalizirane djece iz bolničkog informacijskog sustava (BIS) u razdoblju od 2010. do 2015. godine te ih iznijeli kao temelj za algoritme postupanja te daljnja istraživanja. Analizirajući niz parametara došli smo do konkretnih zaključaka. Bolest se u prosjeku počela manifestirati 28-og dana nakon rođenja, 63 % djece je razvilo sliku metaboličke alkaloze. Debljina mišićne stijenke verifi cirane ultrazvukom kretala se u rasponu od 3,1 mm do 7 mm. Nakon stabilizacije acidobaznog statusa sedmog dana se pristupalo kirurškom zahvatu koji je u prosjeku trajao 48 minuta. Prosječna duljina hospitalizacije iznosila je 11,64 dana, od čega 2 dana u jedinici intenzivnog liječenja. Komplikacije su zabilježene kod dvoje pacijenata.Although the etiology of the disease has not yet been fully clarifi ed in the 21st century, clinical signifi cance of the disease is huge because it is frequent in the neonatal period compared with other diseases. Today, owing to advanced diagnostic possibilities, hypertrophic pyloric stenosis is easily distinguished from other differential diagnoses that are manifested by vomiting as the main symptom. At Department of Pediatric Surgery, Zagreb Children’s Hospital, efforts have been invested to successfully manage this and a number of other conditions that affect newborns. We retrospectively analyzed data on 40 hospitalized children retrieved from the hospital information system for the 2010-2015 period and present them as a basis for the respective algorithms and future research. Reviewing a range of parameters, we have come to some concrete conclusions. On average, the disease started manifesting on 28th day after birth; 63% of the children developed metabolic alkalosis. Thickness of the muscle wall verifi ed by ultrasound ranged from 3.1 mm to 7 mm. Surgery was performed seven days after hospitalization and correction of metabolic condition. The average duration of surgery was 48 minutes. The mean length of hospital stay was 11.64 days, of which 2 days in the intensive care unit. Complications occurred in two patients