Veterinary medicine - Repository of PHD, master's thesis
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The role of cortico-subthalamic projections in pathogenesis and treatment of Parkinson's disease
No full textOd prvog su opisa Parkinsonove bolesti (PB) prošla više od dva stoljeća te se sukladno tome terapijske opcije mijenjaju prateći otkrića novih patofizioloških spoznaja o ovoj bolesti. PB je kroničan i progresivan poremećaj pokreta te druga najčešća neurodegenerativna bolest koja postepeno, ali potpuno narušava kvalitetu života pacijenata. Mimo mnoštva farmakoterapijskih opcija koje s vremenom mogu dovesti do komplikacija poput diskinezija, on-off fenomena te wearing off fenomena, kao glavnom neurokirurškom tehnikom liječenja PB pokazala se duboka mozgovna stimulacija subtalamičke jezgre. Zahvat je reverzibilan, dovodi do smanjenja motoričkih simptoma, smanjenja farmakološke terapije te se isporuka stimulacijske struje može naknadno modulirati putem pulsnog generatora. Međutim, mehanizmi djelovanja DBS-a nisu razjašnjeni. U ovom je radu predstavljeno nekoliko mogućih mehanizama s naglaskom na modulaciju kortiko-subtalamičkih projekcija. Te su projekcije otkrivene još 70-ih godina prošloga stoljeća u istraživanjima na primatima. Traktografskim istraživanjima u ljudi uočena je povezanost motoričke moždane kore s dorzolateralnim, odnosno motoričkim dijelom STN-a. Koherentnost beta-oscilacija STN-a i elektroencefalografskih i magnetoencefalografskih signala motoričke moždane kore potvrđuje tu funkcionalnu povezanost. Isto tako, potvrdom postojanja antidromnog provođenja akcijskog potencijala od STN-a do some kortikalnih neurona te uočavanjem suprimiranja beta-oscilacija nakon primjene DBS-a ovaj hipotetski mehanizam DBS-a intrigira i otvara potrebu za dodatnim istraživanjem metoda koje bi mogle dovesti do vremenski i prostorno preciznijeg djelovanja stimulacijskog impulsa.More than two centuries have passed since Parkinson’s disease (PD) was first described, and accordingly, therapeutic options have evolved in line with the discovery of new pathophysiological insights into this condition. PD is a chronic and progressive movement disorder and the second most common neurodegenerative disease, which gradually, yet profoundly, impairs patients’ quality of life. In addition to the wide range of pharmacotherapeutic options, which may over time lead to complications such as dyskinesias, the on-off phenomenon, and the wearing-off effect, deep brain stimulation (DBS) of the subthalamic nucleus has emerged as the primary neurosurgical treatment technique for PD. This procedure is reversible, results in a reduction of motor symptoms and pharmacological therapy, and allows for subsequent modulation of the stimulation current via a pulse generator. However, the mechanisms underlying the effects of DBS remain unclear. This paper presents several potential mechanisms, with a particular focus on the modulation of cortico-subthalamic projections. These projections were first identified in primate studies during the 1970s. Tractography studies in humans have demonstrated a connection between the motor cortex and the dorsolateral, or motor, segment of the subthalamic nucleus (STN). The coherence of beta oscillations between the STN and electroencephalographic and magnetoencephalographic signals of the motor cortex supports this functional link. Furthermore, the confirmation of antidromic action potential conduction from the STN to the somas of cortical neurons, along with the observed suppression of beta oscillations following DBS application, makes this hypothetical mechanism particularly intriguing and underscores the need for further research into methods that could enable more temporally and spatially precise delivery of stimulation impulses
Postoperative monitoring of microvascular flap perfusion
No full textMikrovaskularni režnjevi predstavljaju jedan od važnijih alata suvremene rekonstruktivne kirurgije, osobito u zahvatima koji uključuju glavu i vrat, dojku, udove i trup. Njihova prednost leži u mogućnosti prijenosa dobro prokrvljenog tkiva, koje zadržava vlastitu arterijsku i vensku opskrbu putem mikroanastomoza na novom mjestu. Uspjeh ovakvih rekonstrukcija ne ovisi isključivo o tehničkoj izvedbi, već i o očuvanju kontinuirane perfuzije tkiva, osobito u ranom postoperativnom razdoblju, koje je kritično za preživljenje režnja.
U prva 72 sata nakon operacije dolazi do značajnih promjena u mikrocirkulaciji. Gubitak simpatičke inervacije uzrokuje vazodilataciju, dok lokalni upalni odgovor dovodi do otpuštanja medijatora koji povećavaju vaskularnu propusnost i potiču edem tkiva. U tom osjetljivom razdoblju mogu nastati komplikacije poput arterijske tromboze, venske kongestije ili vazospazma koje, ako se ne prepoznaju na vrijeme, mogu rezultirati djelomičnim ili potpunim gubitkom režnja.
Pouzdano praćenje prokrvljenosti režnja ključno je za rano otkrivanje takvih poremećaja. Klasične metode, koje uključuju procjenu boje, temperature, turgora, kapilarne reperfuzije ili pinprick testa i dalje su široko korištene zbog jednostavnosti i dostupnosti, ali ovise o subjektivnoj procjeni i iskustvu kirurga. Naprednije metode omogućuju objektivnu i kvantitativnu procjenu perfuzije. Među njima se izdvajaju infracrvena termografija, NIRS spektroskopija, mjerenje protoka laserskim Dopplerom, mikrodijaliza i implantabilne Doppler sonde. Ove tehnike omogućuju kontinuirano praćenje i ranu detekciju perfuzijskih poremećaja, čak i prije pojave kliničkih znakova.
Integracija kliničkih pokazatelja s modernim dijagnostičkim alatima omogućuje pravovremeno prepoznavanje komplikacija, optimizaciju terapijskih odluka te značajno povećava šansu za očuvanje vitalnosti režnja i postizanje zadovoljavajućih funkcionalnih i estetskih rezultata.Microvascular flaps are a cornerstone of modern reconstructive surgery, especially in the reconstruction of complex defects involving the head and neck, breast, trunk, and extremities. Their primary benefit lies in the transfer of well-perfused tissue with reestablished arterial and venous circulation through microvascular anastomoses at the recipient site. The overall success of these procedures depends not only on precise technique but also on maintaining adequate perfusion of the tissue, particularly in the early postoperative period, which is critical for flap survival.
In the first 72 hours after surgery, the flap undergoes significant physiological changes. Loss of sympathetic innervation leads to vasodilation, while the local inflammatory response increases vascular permeability and promotes edema. These changes can compromise blood flow and result in complications such as arterial thrombosis, venous congestion, or vasospasm. Early detection of these issues is essential to prevent partial or complete flap failure.
Monitoring flap perfusion is a vital part of postoperative care. Clinical methods such as assessing skin color, temperature, turgor, capillary refill, and pinprick test are simple and widely used but can be subjective and limited in certain clinical situations. More advanced technologies provide objective and often continuous monitoring. These include infrared thermography, near-infrared spectroscopy, laser Doppler flowmetry, microdialysis, and implantable Doppler probes. They allow for earlier recognition of compromised blood flow and more informed clinical decision making.
Combining clinical evaluation with modern monitoring technologies improves the ability to identify perfusion problems in time. This integrated approach helps preserve the viability of the flap, reduces the need for surgical revisions, and enhances both functional and aesthetic outcomes in microsurgical reconstruction
Vaccination during pregnancy
No full textCijepljenje u trudnoći predstavlja ključan element preventivne medicine koji pridonosi zaštiti zdravlja trudnice, fetusa i novorođenčeta. Trudnoća je specifično imunološko stanje koje uključuje složene fiziološke i imunološke prilagodbe potrebne za održavanje trudnoće. Te promjene, iako nužne za razvoj fetusa, istovremeno povećavaju ranjivost trudnice na određene virusne i bakterijske infekcije, osobito respiratornog sustava. Infekcije poput sezonske gripe, pertusisa (hripavca), infekcije uzrokovane virusom SARS-CoV-2 (COVID-19) te respiratornog sincicijskog virusa (RSV) povezane su s povećanim rizikom od ozbiljnih komplikacija. U trudnica to uključuje povećanu učestalost hospitalizacija, teže kliničke slike bolesti, prijevremeni porod te, u rijetkim slučajevima, mortalitet. S druge strane, infekcija majke tijekom trudnoće može imati i nepovoljan utjecaj na fetus, uključujući nisku porođajnu težinu, zakašnjeli intrauterini rast ili perinatalne infekcije. Brojna klinička ispitivanja i istraživanja potvrdila su da su cjepiva koja se preporučuju za primjenu tijekom trudnoće sigurna, učinkovita i dobro podnošljiva. Riječ je o inaktiviranim cjepivima koja ne predstavljaju rizik za trudnicu ni fetus. Osim što štite trudnicu od ozbiljnog tijeka bolesti, cijepljenje tijekom trudnoće omogućuje prijenos zaštitnih materijalnih protutijela kroz posteljicu na fetus. Tako novorođenče stječe pasivnu imunost u prvim mjesecima života – razdoblju koje je iznimno rizično zbog nezrelosti njegovog imunološkog sustava i nemogućnosti samostalne imunološke reakcije putem cijepljenja. Takva zaštita posebno je važna za infekcije poput gripe, pertusisa i RSV-a, koje kod novorođenčadi mogu izazvati teške komplikacije uključujući pneumonije, konvulzije, pa čak i smrtni ishod. Uzimajući u obzir sve navedeno, jasno je da cijepljenje tijekom trudnoće ima višestruke koristi – ne samo za zdravlje trudnice, nego i za rano postnatalno zdravlje novorođenčeta, čime postaje važna mjera u javnozdravstvenoj zaštiti i odgovornoj prenatalnoj skrbi. Unatoč jasnim dokazima o koristima, stopa cijepljenja trudnica ostaje ispod preporučenih razina, što upućuje na potrebu za jačanjem edukacije, dostupnosti informacija i uspostavom učinkovitijih komunikacijskih strategija u javnozdravstvenim kampanjama.Vaccination during pregnancy represents a crucial component of preventive medicine, contributing to the protection of the health of the pregnant woman, fetus, and newborn. Pregnancy is a unique immunological state that involves complex physiological and immunological adaptations necessary to maintain the pregnancy. While these changes are essential for fetal development, they simultaneously increase the mother's vulnerability to certain viral and bacterial infections, particularly those affecting the respiratory system. Infections such as seasonal influenza, pertussis (whooping cough), SARS-CoV-2 (COVID-19), and respiratory syncytial virus (RSV) are associated with an increased risk of serious complications. In pregnant women, this includes a higher rate of hospitalizations, more severe clinical presentations, preterm birth, and, in rare cases, mortality. Maternal infection during pregnancy may also negatively affect the fetus, leading to low birth weight, intrauterine growth restriction, or perinatal infections. Numerous clinical trials and studies have confirmed that vaccines recommended during pregnancy are safe, effective, and well- tolerated. These are inactivated vaccines that pose no risk to either the mother or the fetus. In addition to protecting the mother from severe disease, vaccination during pregnancy enables the transfer of protective maternal antibodies across the placenta to the fetus. As a result, the newborn acquires passive immunity during the first months of life—a period that is particularly vulnerable due to the immaturity of the infant’s immune system and the inability to mount an adequate immune response through direct vaccination. Such protection is especially important for infections like influenza, pertussis and RSV , which can cause severe complications in newborns, including pneumonia, seizures, and even death. Considering all of the above, it is clear that vaccination during pregnancy offers multiple benefits—not only for the health of the mother but also for the early postnatal health of the infant—making it a vital component of public health protection and responsible prenatal care. Despite clear evidence of these benefits, vaccination rates among pregnant women remain below recommended levels, indicating the need for enhanced education, greater access to reliable information, and the development of more effective communication strategies within public health campaigns
Diseases caused by the CMV virus in people with HIV
No full textPozadina: Citomegalovirus (CMV) je oportunistički patogen u osoba koje žive s HIV-om (PLWH, engl. people living with HIV) koji u uznapredovaloj imunosupresiji može uzrokovati lokaliziranu ili proširenu bolest. Nedostaju istraživanja o kliničkim obilježjima i ishodima odraslih PLWH-ova s CMV bolešću u Hrvatskoj. Ovo istraživanje analizira kliničke značajke, liječenje i ishode CMV bolesti u ovoj populaciji.
Metode: Provedeno je retrospektivno kohortno istraživanje u Klinici za infektivne bolesti „Dr. Fran Mihaljević“ u Zagrebu (2009. – 2023.). Analizirani su demografski, epidemiološki i klinički podatci koji su prikupljeni pregledom medicinske dokumentacije. Vitalni status zabilježen je pri otpustu, nakon 30 dana i 6 mjeseci od prijema te po završetku praćenja 31. prosinca 2023. Funkcionalni status procijenjen je pomoću modificirane Rankinove ljestvice (mRS, engl. modified Rankin Scale) pri otpustu i nakon 6 mjeseci. Rezultati: Zabilježeno je 16 oboljelih. Većinu, 13 (81.3%), činili su muškarci, medijan dobi bio je 46 godina. Kod 13 (81.3%) pacijenata HIV infekcija bila je novotkrivena. Medijan CD4+ limfocita iznosio je 9.5 stanica/µL. Najčešće koinfekcije bile su Pneumocystis jirovecii pneumonija i orofaringealna kandidijaza (svaka kod 7 pacijenata). Kliničke prezentacije bile su CMV retinitis (9), kolitis (4) i encefalitis (4), dok je šest pacijenata (37.5%) imalo diseminiranu bolest. Osnova liječenja bio je ganciklovir; jedan pacijent je zbog rezistencije primao foskarnet, imunoglobuline protiv CMV-a te letermovir. Antiretrovirusno liječenje započeto je kod svih pacijenata, medijana 8 dana nakon prijema. Medijan trajanja bolničkog liječenja bio je 40 dana (IQR 34 –146). Preživljenje je bilo 93.8% pri otpustu, nakon 30 dana i nakon 6 mjeseci. Na dan završetka praćenja (31. prosinca 2023.) preživljenje je bilo 81.3%. Zaključci: CMV bolest je rijetka, ali teška u hospitaliziranih PLWH-ova, često je praćena koinfekcijama i zahtijeva dugotrajno liječenje. Rezistencija CMV-a na lijekove predstavlja problem. Ipak, odgovarajuće antivirusno liječenje i redovito praćenje doprinose preživljenju i povoljnim funkcionalnim ishodima.Background: Cytomegalovirus (CMV) is an opportunistic pathogen in people living with HIV (PLWH) that can cause localised or disseminated disease in advanced immunosuppression. Limited research exists on the clinical features and outcomes of adult PLWH with CMV disease in Croatia. This study analyses the clinical features, treatment, and outcomes of CMV disease in this population.
Methods: A retrospective cohort study at the University Hospital for Infectious Diseases in Zagreb (2009–2023) analysed demographics, epidemiology, and clinical outcomes from medical records, with survival assessments at discharge, 30 days and 6 months post- admission, and at the end of follow-up on 31 December 2023. Functional status was evaluated using the modified Rankin Scale at discharge and 6 months.
Results: Sixteen cases were identified. Most patients, 13 (81.3%), were male, median age 46 years, and 13 (81.3%) were newly diagnosed with HIV. The median CD4+ count was 9.5 cells/µL. Common coinfections included Pneumocystis jirovecii pneumonia and oropharyngeal candidiasis (7 cases each). Clinical presentations featured CMV retinitis (9 cases), colitis (4), and encephalitis (4), with six patients (37.5%) having disseminated disease. Ganciclovir was the primary treatment; one patient required foscarnet, CMV immunoglobulins, and letermovir due to resistance. Antiretroviral therapy (ART) was initiated in all patients, with a median of 8 days post-admission. The median hospitalisation was 40 days (IQR 34–146). Survival was 93.8% at discharge, 30 days, and 6 months, with 81.3% of patients alive as of the final follow-up (31 December 2023).
Conclusions: CMV disease is rare but severe in hospitalised PLWH, often involving coinfections and requiring long-term treatment. It is found predominantly in PLWH who are newly diagnosed with HIV. CMV resistance is a concern. However, proper antiviral therapy and continued care favour survival and functional outcomes
Application of the SLERPI scoring system as a classification criteria for systemic lupus erythematosus and its predictive value for disease recognition
No full textUvod: Sustavni eritemski lupus (SLE) je kronična, multisistemska, autoimunosna bolest s heterogenom kliničkom slikom što uz nepostojanje dijagnostičkih kriterija otežava rano prepoznavanje bolesti. SLERPI (engl. Systemic Lupus Erythematosus Risk Probability Index) je bodovni sustav napravljen pomoću strojnog učenja za pomoć pri dijagnozi SLE-a.
Cilj rada: Ispitati performanse SLERPI-a kao klasifikacijskog kriterija i prediktivnog indeksa za rano prepoznavanje bolesti.
Metode: U presječno istraživanje uključeno je 54 bolesnika sa SLE-om i 54 bolesnika s drugim upalnim reumatskim bolestima, svi s pozitivnim nalazom antinuklearnih protutijela (ANA). Analizirani su podaci iz medicinske dokumentacije prikupljeni u dvije vremenske točke – pri prvom pregledu i kumulativno. Analizirane su performanse SLERPI-a i kriterija ACR/EULAR-a iz 2019. godine u obje vremenske točke te evaluirane različite granične vrijednosti pozitiviteta SLERPI-a.
Rezultati: SLERPI je u obje vremenske točke pokazao usporedive performanse s kriterijima ACR/EULAR-a uz nešto veću osjetljivost (prvi pregled: 85,2% vs. 79,6%; kumulativno 98,1% vs. 96,3%) i nižu specifičnost (prvi pregled: 68,5% vs. 70,4%; kumulativno 53,7% vs. 55,6%). Analiza je pokazala numerički veću površinu ispod ROC krivulje za SLERPI u obje vremenske točke u odnosu na kriterije ACR/EULAR-a. Povišenjem granične vrijednosti pozitiviteta (sa >7 na >7,5 ili >8), poboljšane su performanse SLERPI-a.
Zaključak: SLERPI pokazuje vrlo dobre dijagnostičke performanse, osobito pri prvom pregledu, uz nešto viši iznos osjetljivosti i niži iznos specifičnosti u odnosu na kriterije ACR/EULAR-a. Može predstavljati korisno pomoćno sredstvo u ranoj identifikaciji SLE-a, posebice u ANA- pozitivnih bolesnika, kod kojih se za veću učinkovitost distinkcije može razmotriti viša granična vrijednost pozitiviteta.Introduction: Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease with a heterogeneous clinical presentation, which, combined with the absence of diagnostic criteria, complicates early disease recognition. SLERPI (Systemic Lupus Erythematosus Risk Probability Index) is a scoring system developed using machine learning to assist in the diagnosis of SLE.
Aim: To evaluate the performance of SLERPI as a classification tool and its predictive value for early disease recognition.
Methods: We conducted a cross-sectional study involving 54 patients with SLE and 54 patients with other inflammatory rheumatic diseases, all positive for antinuclear antibodies (ANA). Data from medical records were analysed at two time points — at the initial examination and cumulatively. The performance of SLERPI and the 2019 ACR/EULAR criteria were analysed at both time points, and different positivity thresholds for SLERPI were evaluated.
Results: SLERPI demonstrated comparable performance to the ACR/EULAR criteria at both time points, with slightly higher sensitivity (initially: 85.2% vs. 79.6%; cumulatively: 98.1% vs. 96.3%) and lower specificity (initially: 68.5% vs. 70.4%; cumulatively: 53.7% vs. 55.6%). Analysis showed a numerically larger area under the ROC curve for SLERPI at both time points compared to the ACR/EULAR criteria. Increasing the positivity threshold (from >7 to >7.5 or >8) improved the performance of SLERPI.
Conclusion: SLERPI demonstrated a solid diagnostic performance, especially at the initial examination, with somewhat higher sensitivity and lower specificity compared to the ACR/EULAR criteria. It may represent a useful adjunct tool for early identification of SLE, particularly in ANA-positive patients, where a higher positivity threshold could be employed to enhance discriminatory effectiveness
The diagnostic yield of non-invasive testing features in cardiac amyloidosis
No full textBackground: Cardiac amyloidosis (CA) is a progressive disease in which amyloid fibrils infiltrate the heart muscle. This study aimed to identify features from cardiac biomarkers, electrocardiography (ECG), and echocardiography that may distinguish between transthyretin amyloidosis (ATTR) scintigraphy-positive and negative patients.
Material and methods: Seventy-eight consecutive patients, median age 69 years (range 34-81), with suspected CA, negative serum free light chains, and negative serum and urine protein electrophoresis with immunofixation, referred to cardiac scintigraphy between 2021 and 2024, were retrospectively enrolled. Cardiac uptake was assessed by Perugini grades. Troponin T, N-terminal pro-B-type natriuretic peptide (NT-proBNP), and various ECG and echocardiographic features were compared between ATTR scintigraphy-positive and negative participants using the t-test, Mann-Whitney U-test, and χ2-test as appropriate. Multivariable stepwise logistic regression created the prediction model for ATTR-positive scintigraphy. The significance level was 0.05.
Results: Scintigraphy was ATTR-positive in 24 participants (30.77%). The variables significantly connected with ATTR-positive testing were atrial fibrillation (p = 0.010), first- or second-degree atrioventricular block (p = 0.041), left ventricle (LV) end-diastolic dimension (p = 0.018), LV global longitudinal strain (GLS) (p = 0.040), a restrictive transmitral inflow pattern (p = 0.025), LV posterior wall thickness (p < 0.001), interventricular septum (IVS) thickness (p < 0.001), QRS voltages (p < 0.001), the pseudo- infarct pattern (p < 0.001), and relative apical sparing of the GLS ratio (p < 0.001). The latter four were incorporated into the prediction model for ATTR-positive scintigraphy.
Conclusions: ECG and echocardiography remain the essential diagnostic procedures that raise the suspicion of CA and trigger further diagnostics. Low QRS voltages, the pseudo-infarct pattern, IVS thickness, and relative apical sparing of the GLS ratio are sensitive predictors of ATTR-positive scintigraphy findings
Childhood glaucoma
No full textGlaukom dječje dobi predstavlja heterogenu skupinu očnih bolesti koje mogu dovesti do gubitka vida. Glavni čimbenik rizika za pojavu glaukoma dječje dobi je povišeni intraokularni tlak. Razlikujemo primarni i sekundarni glaukom dječje dobi. Primarni glaukom obuhvaća primarni kongenitalni glaukom i juvenilni glaukom otvorenog kuta. Do nastanka primarnog glaukoma dolazi zbog razvojne anomalije očnog kuta. Sekundarni se glaukom razvija u sklopu drugih očnih ili sustavnih bolesti i stanja.
Na razvoj dječjeg glaukoma utječe više patogenetskih mehanizama, a zajednički ishod je smanjeno otjecanje očne vodice. Klinička slika uvelike ovisi o dobi. U novorođenačkoj i dojenačkoj dobi glaukom se obično očituje klasičnom trijadom simptoma koju čine epifora, fotofobija i blefarospazam, a mogući su i povećanje oka i pojava Haabovih strija.
Dijagnostički postupci koji se koriste u obradi glaukoma dječje dobi uključuju mjerenje intraokularnog tlaka, pregled prednjeg segmenta oka, pregled papile optičkog živca te mjerenje promjera rožnice i aksijalne duljine oka. Pregled se, zbog nesuradnje djece, često izvodi u općoj anesteziji. Genetičko testiranje se sve više primjenjuje jer mnogi oblici glaukoma dječje dobi imaju nasljednu komponentu.
Liječenje uključuje kirurške metode, medikamentnu terapiju i laserske zahvate. Kirurški pristup je često prva linija liječenja, osobito kod primarnog kongenitalnog glaukoma, dok medikamentno liječenje uglavnom ima potporni karakter. Za što bolji ishod bolesti ključni su pravovremeno liječenje, kontinuirano praćenje i multidisciplinarni pristup.Childhood glaucoma represents a heterogeneous group of ocular diseases that can lead to vision loss. The main risk factor for the development of childhood glaucoma is elevated intraocular pressure. It is classified into primary and secondary childhood glaucoma. Primary glaucoma includes primary congenital glaucoma and juvenile open-angle glaucoma, and it arises due to developmental anomalies of the anterior chamber angle. Secondary glaucoma develops in association with other ocular or systemic diseases and conditions.
The development of childhood glaucoma involves multiple pathogenetic mechanisms, with reduced aqueous humor outflow as the common outcome. The clinical presentation largely depends on the age of the child. In neonates and infants, glaucoma typically presents with the classic triad of symptoms: epiphora, photophobia, and blepharospasm, along with possible enlargement of the eye and the presence of Haab’s striae.
Diagnostic procedures used in the evaluation of childhood glaucoma include measurement of intraocular pressure, examination of the anterior segment of the eye, evaluation of the optic nerve head, and measurement of corneal diameter and axial length. Due to limited cooperation in young children, these examinations are often performed under general anesthesia. Genetic testing is increasingly applied, as many forms of childhood glaucoma have a hereditary basis.
Treatment includes surgical methods, medical therapy, and laser procedures. Surgery is often the first-line treatment, especially in primary congenital glaucoma, while medical therapy mainly has a supportive role. Optimal outcomes require timely diagnosis and treatment, continuous follow-up, and a multidisciplinary approach
The association between the histological type of maxillary sinus tumor and the frequency of regional and distant metastases
No full textČeljusni sinus (ČS), najveći od svih paranazalnih sinusa (PNS), ima važnu ulogu u funkciji dišnog sustava i nalaze se u blizini mnogih važnih anatomskih struktura, što ga čini značajnim u kliničkoj praksi. Nalazi se unutar tijela gornje čeljusti i ima približno piramidni oblik. Sinonazalni tumori (SNT) čine rijetku (manje od 1%) i heterogenu skupinu zloćudnih neoplazmi. Osnovu liječenja čini kirurška resekcija s ciljem postizanja negativnih resekcijskih rubova (NRR), a često se pridodaje i adjuvantna radioterapija. Najčešće sijelo u području PNS-a je ČS, gdje dominira planocelularni karicnom (SCC, eng. squamous cell carcinoma). To je najčešći zloćudni tumor ČS-a (60%), agresivan je, sklon razaranju koštanih struktura i invaziji okolnih prostora. Uloga elektivne disekcije vrata (EDV) ostaje kontroverzna, iako novije studije pokazuju koristi kod uznapredovalih tumora. Unatoč multimodalnom liječenju, petogodišnje preživljenje za SCC iznosi oko 50%. Adenokarcinomi ČS-a dijele se na intestinalne (ITAC, eng. intestinal type adenocarcinoma), neintestinalne (no-ITAC) i adenokarcinome porijekla žlijezda slinovnica. ITAC je agresivan i najčešće se javlja kod muškaraca, a no-ITAC obično je niskog stupnja malignosti i rjeđi. Petogodišnje preživljenje iznosi oko 63%, što je nešto više u usporedbi sa SCC-om. EDV nije preporučena jer su limfne i udaljene metastaze rijetke. Najčešći maligni tumor malih žlijezda slinovnica u ČS-u je adenoidni cistični karcinom (ACC, eng. adenoid cystic carcinoma). Nešto rjeđi je mukoepidermoidni karcinom (MEC, eng. mucoepidermoid carcinoma), s kliničkim tijekom sličnim SCC-u. ACC karakterizira spori, lokalno invazivni rast, s ranim perineuralnim širenjem, čestim lokalnim recidivima i odgođenim udaljenim metastazama, često bez prethodnog zahvaćanja limfnih čvorova (LČ). Ima lošiju prognozu – petogodišnje preživljenje iznosi oko 65%, a dvadesetogodišnje samo 20%. Elektivno liječenje vrata (ELV) kod klinički negativnih LČ-ova nije pokazalo koristi.Maxillary sinus (MS), the largest of paranasal sinuses (PNS), plays an important role in the function of the respiratory system and is located near many important structures, which makes it significant in clinical practice. It’s located within the body of the maxilla and has an approximately pyramidal shape. Sinonasal tumors (SNTs) represent a rare (less than 1%) and heterogeneous group of malignant neoplasms. Primary treatment is surgical resection aimed at achieving negative resection margins (NRM), often combined with adjuvant radiotherapy. The most common site within the PNS region is the MS, where squamous cell carcinoma (SCC) predominates. It’s the most frequent malignant tumor of the MS (60%), known for its aggressiveness, tendency to destroy bony structures, and invade surrounding spaces. The role of elective neck dissection (END) remains controversial, although recent studies suggest benefits in advanced tumors. Despite multimodal treatment, the five-year survival rate for SCC is around 50%. Adenocarcinomas of MS are divided into intestinal-type (ITAC), non-intestinal-type (no-ITAC), and salivary gland adenocarcinomas. ITAC is aggressive and commonly occurs in men, whereas no-ITAC is usually low-grade and rarer. Five-year survival rate is around 63%, which is somewhat higher compared to SCC. END is not recommended due to the rarity of lymphatic and distant metastases. The most common salivary gland in the MS is adenoid cystic carcinoma (ACC). Slightly less common is mucoepidermoid (MEC) carcinoma, with a clinical course similar to SCC. ACC is characterized by slow, locally invasive growth, with early perineural spread, frequent local recurrences, and delayed distant metastases, often without prior lymph node involvement. It has a poorer prognosis – the five-year survival rate is about 65%, and the twenty-year survival rate only 20%. Elective neck treatment in clinically negative lymph nodes has shown no benefit
Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis
No full textBackground: Intellectual developmental disorder with autism and speech delay (IDDAS) is a rare and complex neurological disorder characterized by the presence of both intellectual and speech impairment and features of autism spectrum disorder (ASD). The prevalence of IDDAS is unknown but genetically, it is caused by heterozygous variants in the TBR1 gene. Methods: A 7-year-old female with autistic features and delayed speech development was presented with unaffected parents. Trio-joint analysis was conducted on whole-genome sequencing (WGS) data from the proband and unaffected parents. A phenotype-driven analysis was conducted to investigate variants related to the patient’s clinical presentation. A zygosity-focused analysis was performed to investigate de novo and compound heterozygote variants related to the etiology. Results: The joint-genome analysis identified a novel NM_006593.4(TBR1):c.1303C>T p.Gln435* nonsense variant in the proband. The de novo analysis confirmed the absence of the variant in the parents. No additional causative variants were identified in genes associated with the proband’s phenotype. Conclusions: This is the first report of the NM_006593.4(TBR1):c.1303C>T variant in a patient with IDDAS. This study presents the clinical features of the patient and highlights details of trio-WGS analysis in the molecular diagnosis of this complex disease. Sharing these details is important, as they contribute to the understanding of the spectrum of this rare syndrome
Disease characteristics and outcomes of Croatian pediatric patients with acute lymphoblastic leukemia: pretreatment immunophenotypic predictors of high bone marrow minimal residual disease on day 15 of treatment
No full textAim: To assess the clinical-biological characteristics and outcomes of Croatian pediatric patients with acute lymphoblastic leukemia (ALL). A secondary aim was to evaluate the predictive value of pretreatment leukemia-associated immunophenotypes (LAIPs) for poor early response to induction therapy defined as ≥10% day 15 bone marrow flow cytometry minimal residual disease (FCM-MRD).
Methods: This retrospective cohort study reviewed the medical data of 393 consecutive pediatric ALL patients diagnosed and treated from February 2003 to April 2017 at four Croatian pediatric hemato-oncology centers. FCM data of 379 non-infant patients enrolled in two consecutive intercontinental trials, ALL IC-BFM 2002 (NCT00764907) and ALL IC-BFM 2009 (EudraCT 2010-019722-13), were analyzed to evaluate the association between LAIPs at diagnosis and day 15 FCM-MRD≥10% using univariate and multivariate logistic regression.
Results: The median age at diagnosis was 5.2 years, with a predominance (83%) of B-cell precursor (BCP) ALL, and high hyperdiploidy (25.1%) and ETV6::RUNX1 (18.7%) as the most common genetic abnormalities. The protocols did not significantly differ in 5-year event-free survival (82.1% vs 81.7%), overall survival (88% vs 85%), and cumulative incidence of relapse (12.3% vs 10%). FCM-MRD≥10% on day 15 was identified in 22.1% of patients and was predicted by white blood cell (WBC) count ≥20×109/L (P=0.011) and strong expression of CD34 (P=0.032) and CD13 (P=0.001) at diagnosis.
Conclusion: The characteristics and survival rates of Croatian pediatric ALL patients aligned with ALL IC-BFM data. WBC≥20×109/L, CD34strong, and CD13strong independently predicted poor early response in BCP-ALL, suggesting a potential prognostic value of LAIPs at diagnosis