16 research outputs found
Laboratory diagnostics of emergency conditions associated with inborn errors of metabolism
Inborn errors of metabolism are a growing group of monogenic hereditary diseases whose pathogenesis may be accounted
for by biochemical disorders. The great majority of these diseases may occur as a metabolic crisis at any period of life. For
their adequate treatment, fast recognition of the cause of the metabolic disorder is necessary, as well as good collaboration
of all health professionals involved in immediate patient healthcare. On the path to final diagnosis, it is advisable to consult
specialised centres in order to select appropriate diagnostic tests and procedures
Biliary brush cytology for the diagnosis of malignancy: a single center experience [CitoloÅ”ki razmazi brisa Äetkicom u dijagnostici malignih promjena bilijarnog stabla: naÅ”e iskustvo]
Differentiation between benign and malignant biliary strictures is critical to the provision of adequate treatment. Brush cytology during the endoscopic retrograde cholangiopancreatography (ERCP) is the most commonly used method for obtaining tissue confirmation of the nature of biliary strictures. Itās specificity is remarkably high but reported sensitivities for the diagnosis of malignancy are low. Aim of our study was to assess sensitivity and specificity of biliary brush cytology in our institution, to find out main causes of false negative diagnoses and to confirm impression that the team approach has impact on sensitivity. Gold standard for diagnosis was definitive surgical histology or adequate clinical follow up for minimum of six month. Direct smears made by cytotechnician at the endoscopy room, and stained according to Papanicolaou and May-GrĆ¼nwald Giemsa (MGG) were examined for well-recognized features of malignancy on conventional smears as a part of diagnostic routine. Cytologic diagnoses were benign, atypical/reactive, suspicious for malignancy and malignant. Of 143 brushings with available definitive diagnosis 36 (25%) had malignant cytologic diagnosis and 91(63.6%) were classified as benign, 3 were atypical/reactive and 13 suspicious for malignancy with 20 Ā»false-negativeĀ« cases. When specimens with atypical and suspicious cytology were excluded from data analysis sensitivity was 64% and specificity was 100% and when suspicious findings were taken into account as true positives sensitivity rose to 71%. We find that biliary brush cytology, although mainly depending on the skill of endoscopist, as well as the experience of the cytologist, is a valuable method for obtaining accurate tissue diagnosis of biliary strictures, thus solving eternal diagnostic dilemma: benign or malignant
Povezanost upalnog statusa, patohistoloÅ”kih karakteristika i perioperativne potrebe za transfuzijskim lijeÄenjem u bolesnika s kolorektalnim karcinomom
Glasgow Prognostic Score (GPS) is such an inflammation-based factor, defined by the combination of the level of serum C-reactive protein (CRP) and albumin, which are indicators of systematic inflammatory response and nutritional status. A higher score is associated with a worse prognosis of different tumor sites. The score is based on the immunomodulatory and inflammatory status found in patients with elevated CRP. We hypothesized that there is a correlation between GPS and histopathological tumor characteristics and GPS and perioperative administration of erythrocyte concentrates in patients undergoing curative tumor resection. We retrospectively revied the data of fifty-one consecutive patient who underwent elective colorectal surgery. We extracted the values of preoperative C-reactive protein(CRP) and albumin and calculated the GPS. We correlated the histopathology of cancer and perioperative transfusion with the outcome. GPS 0 and 2 having a tumor localized in the colon, with GPS 1 in the rectum. T4 tumor stage had patients only in the group of GPS 2 which was statistically significant from the GPS 0 group. The GPS was not associated with the presence of metastases in the lymph nodes, lymphatic and perineural invasions, while a statistically significant difference was present comparing GPS with tumor deposits between GPS 0 and GPS 1 and GPS 0 and GPS 2. Transfusions were statistically significantly higher in GPS 2 group compared to GPS 0 and 1. A higher GPS score is associated with the changes of immune status of the tumor environment which can affect the recurrence of the disease and survival. GPS should be considered when recommending the frequency of follow up and therapy after curative tumor resection. We have shown that there is an increased risk for perioperative blood consumption, which may independently result in a worse prognosis of the underlying disease.PrognostiÄki upalni zbroj (Glasgow prognostic score, GPS) omoguÄava prognozu ishoda bolesti u osoba s rakom. Baziran je na serumskim biomarkerima C-reactivnom proteinu (CRP) i albuminu. ViÅ”i zbroj povezan je s loÅ”ijom prognozom bolesti. Mehanizam se temelji na imunomodulaciji i upalnom miljeu bolesnika s poviÅ”enim CRP-om. Resekcija debelog crijeva izvrÅ”ena je u 51 bolesnika. CRP i albumini odreÄeni su prije operacije. GPS je usporeÄen s patohistoloÅ”kim karakteristikama tumora i perioperacijskom transfuzijom koncentrata eritrocita. UtvrÄeno je statistiÄki znaÄajna razlika u sijelu tumora analiziranih skupina. ZnaÄjano veÄi broj bolesnika s GPS 0 i 2 imao je tumor lokaliziran u kolonu, a s GPS 1 u rektumu. Tumorski stadij T4 imali su bolesnici samo u skupini GPS 2 Å”to je statistiÄki znaÄajno razliÄito od skupine GPS 0. GPS nije bio povezan s prisutnoÅ”Äu metastaza u limfne Ävorove, limfatiÄne i perineuralne invazije, dok je statistiÄki znaÄajna razlika bila u prisutnosti tumorskih depozita izmeÄu GPS 0 i GPS 1, te GPS 0 i GPS 2. StatistiÄki znaÄajno ÄeÅ”Äe krv je transfudirana bolesnicima GPS 2 skupine u odnosu na GPS 0 i 1. GPS je povezan s patohistoloÅ”kim karakteristikama, povratom bolesti, preživljenjem i veÄim rizikom za primjenu krvi
Biliary Brush Cytology for the Diagnosis of Malignancy: A Single Center Experience
Differentiation between benign and malignant biliary strictures is critical to the provision of adequate treatment. Brush cytology during the endoscopic retrograde cholangiopancreatography (ERCP) is the most commonly used method for obtaining tissue confirmation of the nature of biliary strictures. Itās specificity is remarkably high but reported sensitivities for the diagnosis of malignancy are low. Aim of our study was to assess sensitivity and specificity of biliary brush cytology in our institution, to find out main causes of false negative diagnoses and to confirm impression that the team approach has impact on sensitivity. Gold standard for diagnosis was definitive surgical histology or adequate clinical follow up for minimum of six month. Direct smears made by cytotechnician at the endoscopy room, and stained according to Papanicolaou and May-GrĆ¼nwald Giemsa (MGG) were examined for well-recognized features of malignancy on conventional smears as a part of diagnostic routine. Cytologic diagnoses were benign, atypical/reactive, suspicious for malignancy and malignant. Of 143 brushings with available definitive diagnosis 36 (25%) had malignant cytologic diagnosis and 91(63.6%) were classified as benign, 3 were atypical/reactive and 13 suspicious for malignancy with 20 Ā»false-negativeĀ« cases. When specimens with atypical and suspicious cytology were excluded from data analysis sensitivity was 64% and specificity was 100% and when suspicious findings were taken into account as true positives sensitivity rose to 71%. We find that biliary brush cytology, although mainly depending on the skill of endoscopist, as well as the experience of the cytologist, is a valuable method for obtaining accurate tissue diagnosis of biliary strictures, thus solving eternal diagnostic dilemma: benign or malignant
A path towards a cultured skin fi broblast biobank of patients with inherited errors of metabolism in Croatia
Rijetke bolesti etioloÅ”ki su heterogena skupina najÄeÅ”Äe nasljednih, kroniÄnih i degenerativnih bolesti s pojavnoÅ”Äu manjom od 5
na 10 000 osoba. Poznato je viÅ”e od 7000 rijetkih bolesti od kojih viÅ”e od 600 ima osobitosti nasljednih metaboliÄkih poremeÄaja.
Zbog velike kliniÄke heterogenosti i zahtjevnih dijagnostiÄkih testova put do konaÄne dijagnoze je Äesto dug te ukljuÄuje i
obradu u ino zemnim laboratorijima. UnatoÄ tome, dio bolesnika ostaje bez konaÄne dijagnoze. U situacijama kad je bolesnik
vitalno ugrožen uz moguÄnost letalnog ishoda i pri sumnji na nasljednu metaboliÄku bolest, biopsija kože je dio standardnog
postupka. Posljednjih godina sve je viÅ”e dostupnih moguÄnosti lijeÄenja za Å”irok spektar nasljednih metaboliÄkih bolesti. Osnovni
preduvjet za njihovu djelotvornost je pravodobna dijagnoza. Kultivirani kožni fi broblasti pohranjeni u biobanke vrijedan su bioloŔki
materijal. Osim za postavljanje dijagnoze, mogu se primijeniti i za provjeru djelotvornosti novih pristupa lijeÄenju kao Å”to su male
molekule pratitelji. Sve navedeno upuÄuje na znaÄenje organiziranja biobanke fi broblasta prema meÄunarodno prihvaÄenim
standardima.Rare diseases are an etiologically heterogeneous group of hereditary, chronic and degenerative disorders with the incidence lower
than 5 per 10,000 individuals. More than 7,000 rare diseases have been identifi ed so far, and more than 600 of them have the
characteristics of hereditary metabolic disorders. Due to the high clinical heterogeneity and demanding diagnostic tests, the path to
fi nal diagnosis is often long and may also involve tests performed in laboratories abroad. Despite this, a number of patients remain
without fi nal diagnosis. In life-threatening situations for the patient and in case of suspected hereditary metabolic disease, skin
biopsy is part of the routinely performed standard procedure. Recent years have seen an increasing availability of treatment options
for a broad range of hereditary metabolic diseases. The basic precondition for therapy effi cacy is timely diagnosis. Cultured skin fi broblasts
that are stored in biobanks are a valuable biological material. Except for making diagnosis, they may be used to verify the
effi cacy of novel approaches to treatment, e.g., small chaperon molecules. All of the above indicates the signifi cance of establishing
a fi broblast biobank according to the internationally accepted standards
LYSOSOMAL ACID LIPASE DEFICIENCY IN CHILDREN: OUR EXPERIENCE AND A NOVEL POSSIBILITY OF ENZYME REPLACEMENT THERAPY
Manjak lizosomske kisele lipaze autosomno je recesivno nasljedna bolest s dva kliniÄka fenotipa. Wolmanova bolest poÄinje u ranoj dojenaÄkoj dobi i brzo je progresivna. Zbog masivnog nakupljanja kolesterolskih estera i triglicerida u crijevima, jetri, slezeni i drugim stanicama monocitno-makrofagnog reda dolazi do malapsorpcije, hepatosplenomegalije, zatajenja jetre i smrti u prvoj godini života. Bolest nakupljanja kolesterolskih estera može se oÄitovati od rane djeÄje do kasne odrasle dobi, varijabilna je tijeka i progresije. Glavna su obilježja razliÄito izražena jetrena bolest, ukljuÄujuÄi cirozu i zatajenje jetre, hiperkolesterolemija i rana ateroskleroza. KarakteristiÄan je patohistoloÅ”ki nalaz mikrovezikularne steatoze i fibroze, a patognomoniÄan je ultrastrukturni nalaz kristala kolesterolskih estera. Dijagnozu potvrÄuju mjerenje enzimske aktivnosti i/ili analiza gena. LijeÄenje je donedavno bilo suportivno i simptomatsko. KliniÄka istraživanja enzimskoga nadomjesnog lijeÄenja pokazuju vrlo ohrabrujuÄe rezultate. Prikazujemo dojenÄe s Wolmanovom boleÅ”Äu i dvoje djece s boleÅ”Äu nakupljanja kolesterolskih estera s ciljem skretanja pozornosti na bolesti zbog manjka lizosomske kisele lipaze i Å”to ranijeg poÄetka optimalne skrbi.Lysosomal acid lipase deficiency is an autosomal recessive disorder with two distinct clinical phenotypes. Wolman disease is rapidly progressive with onset in early infancy. Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen and other monocyte-macrophage system cells causing malabsorption, hepatosplenomegaly, liver failure and death in early infancy. Cholesterol ester storage disease may be diagnosed in childhood or later in life. It is characterized by chronic course and variable progression. Main features are variously expressed hepatopathy, including cirrhosis and liver failure, hypercholesterolemia and premature atherosclerosis. Characteristic is pathohistological finding of microvesicular steatosis and fibrosis and patognomonic are typical cholesterol ester crystals. Diagnosis is confirmed by enzyme assay and/or gene analysis. Until recently treatment was symptomatic. Ongoing clinical trials of enzyme replacement therapy have shown very promising results. We are presenting an infant with Wolman disease and two children with cholesterol ester storage disease with the aim to raise awareness about this disease and to start optimal care early
Manjak lizosomske kisele lipaze u djece: vlastita iskustva i nova moguÄnost enzimskoga nadomjesnog lijeÄenja [Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy]
Lysosomal acid lipase deficiency is an autosomal recessive disorder with two distinct clinical phenotypes. Wolman disease is rapidly progressive with onset in early infancy. Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen and other monocyte-macrophage system cells causing malabsorption, hepatosplenomegaly, liver failure and death in early infancy. Cholesterol ester storage disease may be diagnosed in childhood or later in life. It is characterized by chronic course and variable progression. Main features are variously expressed hepatopathy, including cirrhosis and liver failure, hypercholesterolemia and premature atherosclerosis. Characteristic is pathohistological finding of microvesicular steatosis and fibrosis and patognomonic are typical cholesterol ester crystals. Diagnosis is confirmed by enzyme assay and/or gene analysis. Until recently treatment was symptomatic. Ongoing clinical trials of enzyme replacement therapy have shown very promising results. We are presenting an infant with Wolman disease and two children with cholesterol ester storage disease with the aim to raise awareness about this disease and to start optimal care early
VITAMIN B12 DEFICIENCY IN CHILDREN ā UNDERESTIMATED DANGER IN THE LIGHT OF NEW KNOWLEDGE
Vitamin B12 (kobalamin) ima dva aktivna oblika, adenozilkobalamin i metilkobalamin, koji imaju kljuÄnu ulogu u dvama važnim metaboliÄkim putovima u ljudi i njihov je manjak odgovoran za kliniÄke teÅ”koÄe u bolesnika. Kobalamin je nuždan tijekom cijelog života, no njegova dovoljna koliÄina posebno je bitna u fetalno i dojenaÄko doba, kada je iznimno važan za normalan rast i razvoj djeteta, kao i za normalan razvoj srediÅ”njega živÄanog sustava. Zbog vrlo složenog prometa i metabolizma njegov se manjak može oÄitovati pri raznim priroÄenim i steÄenim poremeÄajima. KliniÄka slika kojom se oÄituje manjak vitamina B12 obiÄno je nespecifiÄna, nosi velik rizik od trajnih posljedica za bolesnika, a najÄeÅ”Äe se vrlo jednostavno lijeÄi ako se na vrijeme prepozna. U Republici Hrvatskoj poremeÄaji metabolizma kobalamina u djece prerijetko se otkrivaju. Zato je cilj ovog rada skrenuti pozornost na nove spoznaje o metabolizmu kobalamina, prikazati bolesnike s tipiÄnim kliniÄkim tijekom i laboratorijskim nalazima te dati smjernice za brzo dijagnosticiranje i lijeÄenje poremeÄaja vitamina B12 u djece.Vitamin B12 (cobalamin) has two active forms, adenosylcobalamin and methylcobalamin which have a key role in two important metabolic pathways in humans and their deficiency is responsible for clinical problems. Cobalamin is essential during whole life, but its sufficient amount is extra important in fetal and neonatal period, when it is essential for normal child growth and development as well as for normal development of the central nervous system. Because of very complex transport and metabolism, its deficiency can be manifested in numerous congenital and acquired disorders. Vitamin B12 deficiency mostly has non-specific clinical features, it carries a great risk of permanent consequences, but most frequently it is easily curable if diagnosed on time. In Croatia cobalamin deficiency in children has been diagnosed too rarely. Accordingly, the aim of this paper is to point to the recently gained knowledge on cobalamin metabolism, present typical case reports and to provide guidelines for rapid and proper diagnostic and therapeutic approach
Marvellous and Fairy Tale Elements SunÄana Å krinjariÄ 's Tales
Razvitak svjetske bajke i fantastiÄne priÄe doveo je do razvoja hrvatske. Iako su uvjeti bili nepovoljni, a razvoj isprekidan, postojali su autori koji su, ne mareÄi za druÅ”tvo i okolinu, pisali na tragu svjetske bajke. SunÄana Å krinjariÄ bila je jedna od glavnih karika za razvoj moderne bajke i fantastiÄne priÄe u Hrvatskoj. Ta Äuvena djeÄja spisateljica svojim je djelima obogatila hrvatsku suvremenu bajku, dala joj vlastiti peÄat i donijela pravo osvježenje. U ovom Äe se diplomskom radu dotaknuti njezino stvaralaÅ”tvo koje je nastalo na podlozi bajke i fantastiÄne priÄe, a iza koje se krije stvarnost i suvremeni svijet. U djela Kaktus bajke, Plesna haljina žutog maslaÄka, Pisac i vrijeme, Pisac i princeza te Äudesna Å”uma utkani su bajkovitost i fantastiÄnost koji prikazuju vjeÄno Äovjekovo utoÄiÅ”te i izvor autoriÄine maÅ”te - prirodu.The development of the world's fairy tale and fantastic story led to the development of the Croatian. Although the conditions were unfavorable and the development was intermittent, there were authors that, not caring for society and the environment, wrote in the wake of the world's fairy tales. SunÄana Å krinjariÄ was one of the main writers of a modern fairy tale and a fantastic story in Croatia. This famous children's writer enriched the Croatian contemporary fairy tale with her works, gave her own seal and brought true refreshment. In this project I will write about her creativity, which was created on the basis of a fairy tale and a fantastic story, and behind which lies reality and modern world. Kaktus bajke, Plesna haljina žutog maslaÄka, Pisac i vrijeme, Pisac i princeza and Äudesna Å”uma are woven with fairytale and fantasy that depict the eternal refuge of man and the source of the author's imagination - nature
Marvellous and Fairy Tale Elements SunÄana Å krinjariÄ 's Tales
Razvitak svjetske bajke i fantastiÄne priÄe doveo je do razvoja hrvatske. Iako su uvjeti bili nepovoljni, a razvoj isprekidan, postojali su autori koji su, ne mareÄi za druÅ”tvo i okolinu, pisali na tragu svjetske bajke. SunÄana Å krinjariÄ bila je jedna od glavnih karika za razvoj moderne bajke i fantastiÄne priÄe u Hrvatskoj. Ta Äuvena djeÄja spisateljica svojim je djelima obogatila hrvatsku suvremenu bajku, dala joj vlastiti peÄat i donijela pravo osvježenje. U ovom Äe se diplomskom radu dotaknuti njezino stvaralaÅ”tvo koje je nastalo na podlozi bajke i fantastiÄne priÄe, a iza koje se krije stvarnost i suvremeni svijet. U djela Kaktus bajke, Plesna haljina žutog maslaÄka, Pisac i vrijeme, Pisac i princeza te Äudesna Å”uma utkani su bajkovitost i fantastiÄnost koji prikazuju vjeÄno Äovjekovo utoÄiÅ”te i izvor autoriÄine maÅ”te - prirodu.The development of the world's fairy tale and fantastic story led to the development of the Croatian. Although the conditions were unfavorable and the development was intermittent, there were authors that, not caring for society and the environment, wrote in the wake of the world's fairy tales. SunÄana Å krinjariÄ was one of the main writers of a modern fairy tale and a fantastic story in Croatia. This famous children's writer enriched the Croatian contemporary fairy tale with her works, gave her own seal and brought true refreshment. In this project I will write about her creativity, which was created on the basis of a fairy tale and a fantastic story, and behind which lies reality and modern world. Kaktus bajke, Plesna haljina žutog maslaÄka, Pisac i vrijeme, Pisac i princeza and Äudesna Å”uma are woven with fairytale and fantasy that depict the eternal refuge of man and the source of the author's imagination - nature