Veterinary medicine - Repository of PHD, master's thesis
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Brain function in classic galactosemia, a galactosemia network (GalNet) members review
No full textClassic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge. Several proposed disease mechanisms are discussed, as well as the time of damage and potential treatment options. Furthermore, we combine data from longitudinal, cross-sectional and retrospective studies with the observations of specialist teams treating this disease to depict the brain disease course over time. Based on current data and insights, the majority of patients do not exhibit cognitive decline. A subset of patients, often with early onset cerebral and cerebellar volume loss, can nevertheless experience neurological worsening. While a large number of patients with CG suffer from anxiety and depression, the increased complaints about memory loss, anxiety and depression at an older age are likely multifactorial in origin
Združena analiza genoma u djeteta s rizikom obolijevanja od cerebralne adrenoleukodistrofije
No full textWhole genome sequencing (WGS) and genome joint analysis represent a paradigm shift in genetic diagnostics, offering an unparalleled ability to uncover the molecular basis of disease. These innovative, cutting-edge technologies are hailed as first-line diagnostic tools and are particularly critical for patients who remain undiagnosed following exhaustion of conventional medical approaches. Genome joint analysis serves as a biointelligent solution to pinpoint elusive genetic variants, enabling earlier and more precise intervention. Our patient was enrolled in the CROseq Genome Program after traditional diagnostic methods failed to uncover the underlying cause of disease. Joint analysis detected a novel likely pathogenic variant in the ABCD1 gene in the child. Although he remains in the pre-symptomatic stage, he is currently at the age of highest risk for developing cerebral drenoleukodystrophy (CALD). In the absence of timely intervention, CALD rapidly progresses to total disability, followed by death, shortly after symptom onset. Early diagnosis is therefore of crucial importance, as hematopoietic stem cell transplantation (HSCT) and ex vivo gene therapy can positively alter the disease trajectory and significantly improve patient outcomes when initiated during the pre-symptomatic stage. Establishing the diagnosis during this critical window, however, can be challenging. The biochemical marker, elevated very long-chain fatty acids (VLCFA), is a non-specific finding shared with other disorders of peroxisomal biogenesis. Additionally, the clinical course is complicated by the heterogeneity of clinical manifestations and the potential for cerebral involvement to begin at any age. In this context, genome joint analysis emerges as a powerful tool, enabling the rapid and precise identification of pathogenic ABCD1 variants and thereby guiding the timely implementation of targeted, life-saving therapies. This review, together with the case presentation, aims to provide a comprehensive overview of drenoleukodystrophy and highlight the clinical relevance and actionable therapeutic potential of genome joint analysis. The unpredictable clinical course and rapid deterioration observed in CALD underscores the significance of genome joint analysis in providing a comprehensive genetic profile that facilitates the implementation of personalized care for a rare disease with a narrow therapeutic window.Cijelogenomsko sekvenciranje (WGS) i združena analiza genoma predstavljaju promjenu paradigme u genetičkoj dijagnostici, nudeći neusporedivu sposobnost otkrivanja molekularne osnove bolesti. Ove inovativne, najsuvremenije tehnologije prepoznate su kao dijagnostički alati prve linije i posebno su ključne za pacijente koji ostanu nedijagnosticirani nakon iscrpljivanja konvencionalnim medicinskim metodama. Združena analiza genoma služi kao biointeligentno rješenje za otkrivanje teško prepoznatljivih genetičkih varijanti, omogućujući ranu i preciznu intervenciju. Naš pacijent je uključen u CROseq Genome Program nakon što tradicionalne dijagnostičke metode nisu uspjele otkriti temeljni uzrok bolesti. Združenom analizom je identificirana novo otkrivena vjerojatno patogena varijanta gena ABCD1 kod djeteta. Iako je i dalje u predsimptomatskom stadiju, trenutno je u dobi s najvećim rizikom za razvoj CALD-a. Bez pravovremene intervencije, CALD brzo napreduje do potpune invalidnosti, praćene smrću, nedugo nakon pojave simptoma. Rana dijagnoza je stoga od presudne važnosti, jer transplantacija hematopoetskih matičnih stanica (HSCT) i genska terapija mogu promijeniti tijek bolesti i značajno poboljšati ishode za pacijente ako se započnu tijekom predsimptomatske faze. Međutim, postavljanje
dijagnoze tijekom ovog ključnog razdoblja može biti izazovno. Biokemijski marker, povišene masne kiseline vrlo dugog lanca (VLCFA), nespecifičan je nalaz koji se može naći i u drugim poremećajima peroksisomalne biogeneze. Osim toga, klinički tijek zakompliciran je heterogenošću kliničke slike i mogućnošću zahvaćanja mozga u bilo kojoj dobi. U ovom kontekstu, združena analiza genoma predstavlja korisno sredstvo koje omogućuje brzu i preciznu identifikaciju patogenih varijanti ABCD1 gena i time omogućuje pravovremenu primjenu ciljanih terapija koje spašavaju život. Cilj je ovoga preglednog članka s prikazom slučaja pružiti sveobuhvatan uvid u adrenoleukodistrofiju i istaknuti kliničku važnost i učinkovitost združene analize genoma. Nepredvidivi klinički tijek s brzim pogoršanjem zdravstvenog stanja kod CALD-a ukazuje na značaj združene analize genoma u pružanju sveobuhvatnog genetskog profila koji olakšava provedbu personalizirane skrbi za rijetku bolest s uskim terapijskim rasponom
Cell Free DNA Methylation of RASSF1A and PRSS21 Genes in Blood and Semen of Patients with Nonseminomatous Testicular Germ Cell Tumors
No full textTumori zametnih stanica testisa (TZST) su najčešća neoplazija koja pogađa mlađu mušku populaciju. Dijele se na seminome i neseminome (NSE). Potvrda dijagnoze TZST neizostavno uključuje radikalnu orhidektomiju te je pouzdana neinvazivna dijagnostička metoda potrebna za raniju dijagnostiku. Analiza slobodnocirkulirajuće nestanične DNA (cfDNA) iz tjelesnih tekućina je perspektivan neinvazivan postupak za dijagnozu onkoloških pacijenata. Metilacija genomske DNA (gDNA) gena RASSF1A i PRSS21 iz tkiva TZST-a se pokazala perspektivnim biomarkerom. Cilj rada je utvrditi potencijal metilacije cfDNA gena RASSF1A i PRSS21 iz krvi i ejakulata kao biomarkera za identifikaciju pacijenata s NSE. Pirosekvenciranjem je istražena stopa metilacije cfDNA promotorske regije gena RASSF1A i PRSS21 iz krvi i ejakulata pacijenata s potvrđenom dijagnozom NSE i zdravih dobrovoljaca bez prijašnje dijagnoze TZST-a te gDNA iz tumorskog tkiva i okolnog zdravog tkiva pacijenata s NSE. Hipermetilirana gDNA RASSF1A bila je detektirana u tkivu NSE naspram okolnog zdravog tkiva. U gena PRSS21 nije detektirana razlika u stupnju metilacije gDNA. Kod pacijenata s NSE detektirana je hipermetilacija cfDNA gena RASSF1A u krvi, dok je u ejakulatu detektirana hipermetilacija cfDNA gena PRSS21. Metilacija cfDNA gena RASSF1A i PRSS21 je pokazala višu osjetljivost i specifičnost od biomarkera koji su trenutno u kliničkoj upotrebi. Ovim istraživanjem je potvrđen potencijal metilacije cfDNA gena RASSF1A u krvi te je otkriven potencijal metilacije cfDNA gena PRSS21 u ejakulatu kao dijagnostičkih biomarkera pacijenata s NSE.Testicular germ cell tumors (TGCT) are the most common malignancy among young males. TGCT are subdivided into seminomas and nonseminomas (NSE). Confirmation of a TGCT diagnosis always includes radical orchidectomy, making a reliable noninvasive diagnostic method required for earlier diagnosis. Analysis of circulating cell-free DNA (cfDNA) from body liquids is a perspective noninvasive procedure for diagnosis of oncological patients. Genomic DNA methylation (gDNA) of RASSF1A and PRSS21 genes in the tissue of TGCT has been shown as a potential biomarker. The aim of this study was to assess the potential of cfDNA methylation of genes RASSF1A and PRSS21 in the blood and ejaculate as biomarkers for patients with NSE. Pyrosequencing was used to analyze cfDNA methylation of genes RASSF1A and PRSS21 in blood and ejaculate of patients with a confirmed diagnosis of NSE and healthy donors with no prior diagnosis of TGCT as well as in gDNA from the tumor tissue and the surrounding healthy tissue of patients with NSE. RASSF1A was hypermethylated in gDNA of tumor tissue. No difference in gDNA methylation levels was found in PRSS21. In NSE patients hypermethylated RASSF1A was detected in cfDNA isolated from the blood, while hypermethylated PRSS21 was detected in cfDNA isolated from the ejaculate. Methylation of RASSF1A and PRSS21 cfDNA shows higher sensitivity and specificity than the currently used clinical biomarkers. This study confirms the potential of methylation of RASSF1A in cfDNA from blood and discovers the methylation of PRSS21 in cfDNA from the ejaculate as diagnostic biomarkers of patients with NSE
Endothelial lipase serum levels and functional characteristics of high density lipoprotein in patients with different clinical presentations of coronary artery disease
No full textKardiovaskularne bolesti su vodeći uzrok pobola i smrtnosti u svijetu a veliku većinu čini koronarna bolest sa svojim posljedicama. Najučestalije kliničke prezentacije koronarne bolesti su akutni koronarni sindrom i stabilna angina pektoris, prema novoj nomenklaturi zvana, kronični koronarni sindrom. Uz sve bolje farmakointerventne metode liječenja koronarne bolesti bilježi se porast prevalencije ishemijske bolesti srca, a ukupni mortalitet je i dalje visok. Čimbenici rizika za aterosklerotsku bolest su već više desetljeća poznati ali se farmakoterapija u modificirajućim čimbenicima rizika nije pokazala visoko učinkovitom, posebice ako govorimo o dislipidemiji.
Cilj ovog istraživanja bio je odrediti razinu endotelne lipaze i ispitati funkcionalne karakteristike lipoproteina visoke gustoće (HDL-a) u bolesnika s akutnim i kroničnim koronarnim sindromom te ih međusobno usporediti. U istraživanju je sudjelovalo 187 bolesnika s akutnim koronarnim sindromom i 72 bolesnika sa stabilnom koronarnom bolešću.
Razina endotelne lipaze, efluks kolesterola i antioksidativna aktivnost HDL-a bili su statistički značajno viši u bolesnika s kroničnim koronarnim sindromom, odnosno stabilnom koronarnom bolešću. U ovoj skupini bolesnika razina EL ipak nije korelirala s težinom koronarne bolesti. U skupini bolesnika koji su se prezentirali s akutnim koronarnim sindromom razina IL-6 i protuupalna sposobnost HDL-a bila je značajno viša u odnosu na sCAD bolesnike. Jednako tako, bolesnici s AKS imali su više aterosklerozom zahvaćenih segmenata koronarnih arterija. Vrijednosti endotelne lipaze ≤ 193,81 pg/mL, uz specifičnost testa od 93,1% i osjetljivost od 37,4% kod bolesnika koji imaju bolove u prsištu mogle bi se koristiti kao isključni kriterij za postavljanje dijagnoze akutnog koronarnog sindroma.Cardiovascular diseases are the leading causes of morbidity and mortality worldwide, with the vast majority being coronary diseases and their consequences. The most common clinical presentations of coronary disease are acute coronary syndrome and stable angina pectoris, now referred to as chronic coronary syndrome under the new nomenclature. Despite advances in pharmacointerventional methods for treating coronary heart disease, the prevalence of ischemic heart disease is increasing, but overall mortality remains high. Risk factors for atherosclerotic disease have been known for decades; however, pharmacotherapy has not proven highly effective in modifying risk factors, particularly in cases of dyslipidemia.
The aim of this research was to determine the level of endothelial lipase and examine the functional characteristics of high-density lipoproteins (HDL) in patients with acute and chronic coronary syndromes, and to compare these two groups. The study included 187 patients with acute coronary syndrome and 72 patients with stable coronary disease.
The levels of endothelial lipase, cholesterol efflux, and the antioxidant capacity of HDL were statistically significantly higher in patients with chronic coronary syndrome (stable coronary artery disease). However, in this group of patients, the level of endothelial lipase did not correlate with the severity of coronary disease. In the group of patients who presented with acute coronary syndrome, the level of IL-6 and the anti-inflammatory capacity of HDL were significantly higher compared to those with stable coronary artery disease. Additionally, patients with acute coronary syndrome had more coronary artery segments affected by atherosclerosis. Endothelial lipase values ≤ 193,81 pg/mL, with test specificity of 93,1% and sensitivity of 37,4% in patients with chest pain, could be used as an exclusion criterion for establishing the diagnosis of acute coronary syndrome
SUFU protein's function in connecting Wnt and Hedgehog signaling pathways in placentas with intrauterine growth restriction
No full textJedan od najčešćih uzroka intrauterinog zastoja u rastu (IUGR) je nedostatna funkcija posteljice. IUGR se pojavljuje u oko 10% trudnoća te uzrokuje povećanje fetalnog i neonatalnog morbiditeta i mortaliteta. Unatoč presudnoj ulozi signalnih puteva Wnt i Hedgehog (Hh) u embrionalnom razvoju te razvoju posteljice, njihova uloga u nastanku IUGR-a još nije dovoljno istražena. U ovoj je studiji analizirana ekspresija pozitivnih regulatora signalnog puta Wnt, proteina WNT5A i β-katenina, te ekspresija proteina SUFU koji je negativni regulator signalnog puta Hh,. Proteinska ekspresija je analizirana imunohistokemijom (IHC) u uzorcima 34 posteljice s IUGR-om te 18 posteljica iz urednih jednoplodnih terminskih trudnoća te dodatno provjerena na razini mRNA metodom analize reverzne transkripcije i kvantitativne lančane reakcije polimerazom (RT-qPCR). Epigenetski mehanizmi regulacije ekspresije gena SUFU istraženi su određivanjem metilacijskog obrasca DNA u promotoru gena SUFU PCR- om ovisnim o metilaciji (MSP) te RT-qPCR analizom ekspresije miR-214-3p i miR-378a-5p. Proteinska ekspresija WNT5A je bila viša u endotelnim stanicama posteljičnih resica kod IUGR-a u odnosu na kontrolnu skupinu. Proteinska ekspresija β-katenina je bila povišena u trofoblastu i endotelnim stanicama kod IUGR-a, dok je proteinska ekspresija SUFU bila povišena u trofoblastu posteljica s IUGR-om. Promotor gena SUFU je ostao nemetiliran u obje skupine, dok je kod posteljica s IUGR-om nađena smanjena ekspresija miR-214-3p i miR-378a-5p. Povišena proteinska ekspresija SUFU u posteljica s IUGR-om u kontekstu također povišene proteinske ekspresije WNT5A i β-katenina potvrđene i korelacijskom analizom proteinske ekspresije β-katenina i SUFU ukazuje na moguću ulogu SUFU kao pozitivnog i negativnog regulatora u integriranju signalnih puteva Wnt i Hh u posteljica s IUGR-om. Čini se da bi miRNA, a ne DNA metilacija, mogao biti epigenetski mehanizam u reguliranju genske ekspresije SUFU u patogenezi posteljica sa IUGR-om.Placental insufficiency is one of the most common causes of intrauterine growth restriction (IUGR). IUGR affects ~10% of preg-nancies and increases fetal and neonatal morbidity and mortality. Although Wnt and Hh pathways are crucial for embryonic development and placentation, their role in the pathology of IUGR is still not sufficiently explored.
The present study analyzed the expression of positive regulators of the Wnt signaling pathway, WNT5A, and β‑catenin, and the expression of the Hh signaling pathway negative regulator, suppressor of fused (SUFU). Immunohistochemical and reverse transcription‑quantitative PCR (RT‑qPCR) assays were performed on 34 IUGR and 18 placental tissue samples from physiologic singleton term-pregnancies. Epigenetic mechanisms of SUFU gene regulation were also investigated by methylation‑specific PCR analysis of its promoter and RT‑qPCR analysis of miR‑214‑3p and miR‑378a‑5p expression. WNT5A protein expression was higher in endothelial cells of placental villi from IUGR group compared with controls. That was also the case for the expression of β-catenin protein in trophoblasts and endothelial cells and SUFU protein in trophoblasts from IUGR placentas. The SUFU gene promoter remained unmethylated in all tissue samples, while miR‑214‑3p and miR‑378a‑5p were downregulated in IUGR. The present results of higher SUFU protein expression in IUGR placentas in the context of higher WNT5A and β-catenin protein expression confirmed with SUFU and β-catenin protein expression correlation analysis suggest a possible function of SUFU as both a positive and negative regulator in the integration of Wnt and Hh signaling in IUGR. DNA methylation did not appear to be a mechanism of SUFU regulation in the pathogenesis of IUGR, but its expression could be regulated by miRNA targeting
Clostridioides difficile infections in COVID-19 patients – Clinical Hospital Center Rijeka experience
No full textGastrointestinalne manifestacije (mučnina, povraćanje, proljev) najčešće su izvanplućne manifestacije infekcije COVID-19. Iako proljev može biti jedan od simptoma COVID-19 infekcije, koinfekcija COVID-19 i Clostridioides difficile (CD) najčešći je uzrok proljeva kod COVID-19 pacijenata koji primaju antibiotike širokog spektra. Najveći rizik predstavljaju bolesnici starije dobi s anamnezom nedavne hospitalizacije. Pravovremena dijagnoza i liječenje od osobite je važnosti da bi se izbjegle komplikacije i nepovoljan ishod bolesti.
Cilj ovog istraživanja bio je procijeniti incidenciju CDI kod pacijenata hospitaliziranih zbog COVID-19, kao i utjecaj koinfekcije na dužinu hospitalizacije i ishod COVID-19.
Provedena je retrospektivna analiza jednog centra, Kliničkog bolničkog centra (KBC) Rijeka koja je uključila 46 bolesnika starijih od 18 godina s COVID-19/CD koinfekcijom liječenih u COVID jedinicama KBC Rijeka u periodu od 25.02.2020.-31.12.2021. U studiju nisu uključeni bolesnici kod kojih su simptomi CDI počeli nakon otpusta iz bolnice (u post-COVID periodu).
Incidencija CDI među hospitaliziranim bolesnicima s COVID-19 bila je 4,1 puta veća u odnosu na incidenciju CDI ne-COVID-19 bolesnika u KBC-u Rijeka u istom periodu. Većina bolesnika bila je starije životne dobi (76 % starije od 65 godina). Kod 50 % bolesnika postojao je podatak o recentnoj (unutar 60 dana) hospitalizaciji. Gotovo svi pacijenti (97 %) primali su antimikrobnu terapiju tijeku liječenja COVID-19. Duljina hospitalizacije u bolesnika s koinfekcijom bila je 2,6 puta veća u odnosu na s COVID-19 bolesnike koji nisu imali CDI (25 : 9,5 dana). Smrtnost bolesnika s koinfekcijom iznosila je 28,26 %. Bolesnici starije životne dobi s COVID-19 infekcijom koji primaju antibiotike širokog spektra i koji su nedavno liječeni u bolnici predstavljaju rizičnu skupinu za razvoj CDI. COVID-19 može maskirati početak i nepovoljno utjecati na klinički tijek CDI, istovremeno CDI može pogoršati tijek i kao i prognozu COVID-19.Gastrointestinal manifestations (nausea, vomiting, diarrhoea) are the most common extrapulmonary manifestations of COVID-19 infection. Although diarrhoea may be one of the symptoms of COVID-19 infection, COVID-19 and Clostridioides difficile (CD) coinfection is the most common cause of diarrhoea in patients receiving broad-spectrum antibiotic treatment. Elderly patients who have recently been admitted to the hospital are particularly at risk for a coinfection, as was the case with Clostridioides difficile infection (CDI). Delaying an early diagnosis and course of treatment for these patients can have fatal consequences.
The aim of this study was to evaluate the incidence of CDI in patients hospitalized for COVID-19 as well as the influence of the coinfection on the duration of the hospitalization and the COVID-19 outcome.
In a retrospective study carried out from 25th February 2020 to 31st December 2021, medical histories of 46 patients with COVID-19/CD coinfection treated in the COVID department of Clinical Hospital Center Rijeka were analysed. Patients whose CDI symptoms started after hospital discharge (post-COVID period) were excluded from the research.
The incidence of CDI among COVID-19 hospitalized patients was 4,1 times greater compared to the incidence of CDI in the total number of non-COVID-19 patients in the Clinical Hospital Center Rijeka during the same period. Most of the patients were elderly (76% older than 65 years of age). Recent hospitalization (within 60 days) was present in 50% of patients. Nearly all patients (97%) were receiving antimicrobial therapy during COVID-19 infection. The length of hospitalization in patients with coinfection was 2,6 times longer compared to COVID-19 patients who did not have CDI (25 : 9,5 days). The lethal outcome was present in 28,26% of the cases.
Elderly patients with empirical antibiotic therapy, and those who have been hospitalized recently, are among the COVID-19 patients who are more likely to develop CDI. The onset and clinical course of CDI can be affected by COVID-19 infection, while CDI can also worsen the course and prognosis of COVID-19 infection
The mechanism of cytarabine-induced differentiation of acute myeloid leukemia cells
No full textCitarabin u malim koncentracijama potiče diferencijaciju stanica akutne mijeloične leukemije (AML), ali mehanizam nije u potpunosti objašnjen. Naša prethodna istraživanja pokazala su da inhibitori sinteze pirimidina potiču diferencijaciju leukemijskih stanica aktivacijom kinaze Chk1 (prema engl. checkpoint kinase 1). Cilj ovog istraživanja je ispitati ulogu Chk1 u diferencijaciji leukemijskih stanica potaknutoj citarabinom te ispitati učinke stromalnih stanica na diferencijaciju leukemijskih stanica. Leukemijske stanične linije U937, THP-1 i MOLM-13, te stromalnu staničnu liniju MS-5 smo tretirali citarabinom i inhibitorima sinteze pirimidina. Koristeći Western blot, protočnu citometriju, farmakološke inhibitore i siRNA transfekciju pokazali smo da niska doza citarabina uzrokuje diferencijaciju aktivacijom Chk1. Prisutnost stromalnih stanica smanjuje učinke niskih doza citarabina na zastoj u staničnom ciklusu, signalizaciju oštećenja DNA i diferencijaciju stanica AML-a. Iako je sekvenciranje RNA pokazalo da stroma smanjuje izražaj gena uključenih u signalizaciju citokinima i oksidativni stres, rezultati dobiveni pomoću farmakoloških inhibitora i neutralizirajućih protutijela nisu podržali ulogu CXCL12, TGF- i slobodnih radikala kisika. Ovi rezultati pokazuju da niska doza citarabina potiče diferencijaciju leukemijskih stanica aktivacijom kinaze Chk1 te da stromalne stanice smanjuju diferencijaciju stanica AML-a potaknutu niskim dozama citarabina in vitro.Low-dose cytarabine promotes differentiation of acute myeloid leukemia (AML) cells, but the mechanism is not fully elucidated. Our previous research showed that pyrimidine synthesis inhibitors stimulate the differentiation of AML cells by activating checkpoint kinase 1 (Chk1). This research aims to investigate the role of Chk1 in the cytarabine-induced differentiation of AML cells and to examine the effects of stromal cells on AML differentiation. Leukemia cell lines U937, THP-1, and MOLM-13, and stromal cell line MS-5 were treated with cytarabine and pyrimidine synthesis inhibitors. Using immunoblotting, flow cytometry analyses, pharmacologic inhibitors, and genetic inactivation of Chk1 we show that low-dose cytarabine induces differentiation by activating Chk1. The presence of stromal cells prevented cell cycle arrest, DNA damage signaling, and AML cells differentiation induced by low-dose cytarabine. Although transcriptomic analysis revealed that the stroma reduced the expression of genes involved in cytokine signaling, and oxidative stress, data obtained with pharmacological inhibitors and neutralizing antibodies did not support the role of CXCL12, TGF-β, or reactive oxygen species. This study reveals that that low-dose cytarabine promotes leukemic cell differentiation by activating Chk1 kinase and that stromal cells reduce low-dose cytarabine-induced AML differentiation in vitro
Primary Bone Lymphoma of the Scapula
No full textPrimary bone lymphoma of the scapula is a rare tumor that usually causes local pain. The presented patient suffered for two years from paresthesia, tingling, numbness, and edema of the little and ring fingers. The 45-year-old man underwent several radiological and neurological assessments of the palm, elbow, and neck before radiographs revealed a tumor of the left shoulder. Once diffuse large B-cell lymphoma was confirmed, immunochemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine, and methylprednisolone (R-CHOP) started. The treatment was accompanied by antiviral treatment with lamivudine due to positive hepatitis B virus serology, specifically anti-HBs (hepatitis B surface) antibody, total anti-HBc (hepatitis B core) antibody, and anti-HBe (hepatitis B e antigen) antibody, together with bisphosphonate treatment for the prevention of bone resorption. Once immunochemotherapy was finished, the treatment was supplemented by radiotherapy of the shoulder. After more than three years of remission, the patient had an ischemic stroke manifesting with right-sided hemiparesis. Following physical therapy, the patient is currently in the process of evaluation for thrombophilia, as well as further cardiac assessment due to the positive transcranial Doppler bubble test, setting high suspicion for the presence of patent foramen ovale
Uobičajene zamke u operaciji abdominalne aorte i kako se s njima nositi
No full textAn aneurysm is a focal enlargement of an artery to 1.5 times its normal diameter or more. Most abdominal aortic aneurysms are asymptomatic until they rupture, but some are detected when an imaging study is done for other purposes. The risk factors for abdominal aortic aneurysms are smoking, male sex, age (above sixty-five), hypertension, ischemic heart disease, peripheral vascular disease and positive family history. There are many different modalities that can be used to diagnose an abdominal aortic aneurysm, but ultrasonography is used for screening since it is economical and doesn't expose the patients to ionizing radiation. Abdominal aortic aneurysm can be managed either medically or surgically. Medical management involves therapy to reduce cardiovascular risk factors and quitting smoking, which is appropriate for asymptomatic individuals with smaller aneurysm sizes. The need for surgical intervention for abdominal aortic aneurysms is based on the size (diameter of 5.0 cm or greater for women and 5.5 cm or greater for men), the rate of progression and the presence of symptoms. While a symptomatic aneurysm needs to be treated urgently (as it is a sign of impending rupture), since rupture of the abdominal aortic aneurysm is a medical emergency that requires immediate repair. There are two primary methods of abdominal aortic aneurysm repair: open and endovascular (EVAR). EVAR is preferred over open surgical intervention, due to its lower morbidity and mortality rates, minimal invasiveness, shorter length of hospital stay, and lower rate of complications such (as myocardial infarction, respiratory failure,
renal failure, colonic ischemia and graft infections). On the other hand, EVAR has demonstrated specific complications related to increased long-term morbidity and mortality, such as endoleaks and stent-graft migration. The aim of this study is to elucidate
the common pitfalls in open and endovascular repair of abdominal aortic aneurysms, and the prevention and treatment of complications.Aneurizma je žarišna dilatacija arterije na 1,5 puta njezinog normalnog promjera ili više. Većina aneurizama abdominalne aorte je asimptomatska sve dok ne pukne, iako se neke otkriju kada se radi slikovna studija u druge svrhe. Čimbenici rizika za nastanak aneurizme abdominalne aorte su pušenje, muški spol, dob iznad šezdeset i pet godina, hipertenzija, ishemijska bolest srca, periferne vaskularne bolesti i pozitivna obiteljska anamneza. Postoji mnogo različitih modaliteta koji se mogu koristiti za dijagnosticiranje aneurizme trbušne aorte, ali ultrazvuk se koristi za probir jer je ekonomičan i ne izlaže pacijente ionizirajućem zračenju. Aneurizma abdominalne aorte može se liječiti konzervativno ili kirurški. Konzervativno liječenje uključuje terapiju za smanjenje kardiovaskularnih čimbenika rizika i prestanak pušenja, što je prikladno za asimptomatske osobe s manjom veličinom aneurizme. Potreba za kirurškom intervencijom kod aneurizme abdominalne aorte temelji se na veličini (promjer 5,0 cm ili veći za žene i 5,5 cm ili veći za muškarce), brzini progresije i prisutnosti simptoma. Dok simptomatsku aneurizmu treba hitno liječiti (kao znak prijeteće rupture), ruptura aneurizme trbušne aorte je emergentno medicinsko stanje koje zahtijeva trenutni popravak. Postoje dvije primarne metode popravka aneurizme abdominalne aorte:
otvorena i endovaskularna (EVAR). EVAR se preferira u odnosu na otvorenu kiruršku intervenciju, zbog manje neposredne stope morbiditeta i mortaliteta, minimalne invazivnosti i potrebe za kraćim boravkom u bolnici te zbog manje stope komplikacija kao što su infarkt miokarda, respiratorno zatajenje, zatajenje bubrega, ishemija debelog crijeva i infekcije presatka. S druge strane, EVAR je pokazao specifične komplikacije povezane s povećanim dugoročnim morbiditetom i mortalitetom, kao što su endoleak i migracija stent-grafta. Cilj ove studije je razjasniti uobičajene zamke kod otvorenog i
endovaskularnog popravka aneurizama abdominalne aorte, kako bi se poboljšala prevencija i liječenje komplikacija