Veterinary medicine - Repository of PHD, master's thesis
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Lipoprotein(a) as a Mysterious Factor for Cardiovascular Disease
No full textLipoprotein(a) je molekula slična LDL-u, za koju je specifičan dodatak glikoproteina apolipoproteina(a). Apo(a) vrlo je polimorfan glikoprotein te interindividualne razlike u molekularnoj masi njegovih izoformi, koje su posljedica genske varijabilnosti na LPA lokusu, uvjetuju veliku varijabilnost serumske koncentracije Lp(a). Serumska je koncentracija Lp(a), stoga, pretežno (>90%) genski uvjetovana. Kauzalna veza između visoke serumske koncentracije Lp(a) i aterosklerotske kardiovaskularne bolesti te stenoze aortalne valvule dobro je utvrđena obiljem genskih dokaza. Iako se nekoć tako smatralo, danas znamo da Lp(a) nije čimbenik rizika za vensku tromboemboliju. Prema sadašnjim definicijama, oko 20% opće populacije ima visoku koncentraciju Lp(a) i za te ljude on predstavlja veoma značajan čimbenik rizika. Mjerenje serumske koncentracije Lp(a) preporučuje se učiniti barem jednom u životu, po mogućnosti prilikom izrade prvog lipidograma. Budući da je koncentracija Lp(a) poprilično stabilna tijekom cijelog odraslog života, u odsustvu specifičnih terapija za snižavanje njegove koncentracije ponovna mjerenja nisu potrebna. Kod pojedinaca s visokom koncentracijom Lp(a) preporučuje se inkorporirati ga u procjenu ukupnog rizika te u skladu s time kontrolirati druge čimbenike rizika. Iako trenutno nema odobrene specifične terapije za snižavanje koncentracije Lp(a), u razvoju je više lijekova koji pokazuju vrlo obećavajuće rezultate. Od toga su za dva nova lijeka u tijeku studije faze 3, koje proučavaju njihov učinak na kardiovaskularni rizik u pojedinaca s visokom koncentracijom Lp(a).Lipoprotein(a) is an LDL-like molecule that contains a specific glicoprotein moiety apolipoprotein(a). Apo(a) is a very polymorphic glicoprotein and the interindividual differences in the molecular mass of its isoforms, which are themselves a consequence of genetic variability of the LPA locus, are the cause of high variability of Lp(a) serum concentration. The serum concentration of Lp(a) is, therefore, mainly (>90%) genetically determined. The causal association between high Lp(a) serum concentration and atherosclerotic cardiovascular disease and aortic valve stenosis is well established with abundant genetic evidence. Although it was once considered so, today we know that Lp(a) is not a risk factor for venous thromboembolism. According to current definitions, around 20% of the general population has a high Lp(a) concentration and for those people that is a highly significant risk factor. Measurement of serum Lp(a) concentration is recommended to be performed at least once in a lifetime, preferably alongside the first lipid profile. Considering that Lp(a) concentration is quite stable during the course of adult life, in the absence of specific Lp(a)-lowering therapy repeat measurements are not necessary. In individuals with high Lp(a) concentration it is recommmended that Lp(a) be incorporated into overall risk estimation and that other risk factors be managed accordingly. Although currently there are no approved specific Lp(a)-lowering therapies, several drugs are now being developed with very promising results. Of those, phase 3 trials are ongoing for two new drugs and they are studying their effect on cardiovascular risk in individuals with high Lp(a) concentrations
Genetics and clinical manifestations of 22q11.2 deletion syndrome
No full textSindrom mikrodelecije 22q11.2 (22q11.2DS) najčešći je sindrom mikrodelecije u ljudi, s prevalencijom u općoj populaciji od približno 1 na 4000 živorođene djece. Genetska osnova 22q11.2DS leži u deleciji regije 11.2 na dugom kraku kromosoma 22. Zbog nestabilnosti ove regije i njene sklonosti mutacijama, sindrom obuhvaća heterogenu skupinu bolesti koje se prezentiraju različitim fenotipovima, od kojih je najpoznatiji DiGeorgeov sindrom (DGS).
Delecija regije 22q11.2 uključuje više gena, od kojih su neki ključni za razvoj pojedinih organskih sustava. To rezultira širokim spektrom kliničkih simptoma koji se mogu identificirati u različitim fazama života, kao što su prenatalno razdoblje, novorođenčka dob, djetinjstvo, a ponekad i tek u odrasloj dobi. Ovi simptomi mogu varirati od blagih do teških i često obuhvaćaju kongenitalne srčane greške, dismorfiju lica, hipoplaziju timusa, hipoparatiroidizam i rascjep nepca.
Većina dijagnoza postavi se u ranijoj životnoj dobi, a kongenitalne srčane greške su jedna od temeljnih anomalija pri postavljanju kliničke dijagnoze 22q11.2DS. Cilj ovog diplomskog rada bio je prikazati različite kliničke osobitosti pacijenata s 22q112DS uz prikaz četiri pacijenta koji su se prezentirali atipičnom kliničkom slikom, što je otežalo dijagnostiku i dovelo do kasnijeg postavljanja dijagnoze sindroma.
Naglasak je stavljen na multidisciplinarni i sveobuhvatni pristup pri prepoznavanju i liječenju pacijenata s ovim sindromom, te je istaknuta važnost genetskog testiranja, koje je danas osnovna dijagnostička metoda za potvrdu bolesti. Pravovremeno genetsko testiranje omogućava postavljanje točne dijagnoze, što je ključno za planiranje odgovarajućeg liječenja i praćenja pacijenata, ali ima i važnu ulogu u genetskom savjetovanju obitelji o rizicima za pojavu bolesti u potomstvu i mogućnostima prenatalne dijagnostike.Deletion syndrome 22q11.2 (22q11.2DS) is the most common microdeletion syndrome in humans, with a prevalence in the general population of approximately 1 in 4000 live births. The genetic basis of 22q11.2DS lies in the deletion of region 11.2 on the long arm of chromosome 22. Due to the instability of this region and its susceptibility to mutations, the syndrome comprises a heterogeneous group of diseases with different phenotypes, of which DiGeorge syndrome (DGS) is the best known.
The deletion of the 22q11.2 region affects a large number of genes, some of which are crucial for the development of various organ systems. This leads to a broad spectrum of clinical symptoms that can occur at different stages of life, including prenatal, infancy, childhood and even adulthood. These symptoms can range from mild to severe and often include congenital heart defects, facial anomalies, thymic hypoplasia, hypoparathyroidism and cleft palate.
Most diagnoses are made early in life, with congenital heart defects being one of the fundamental abnormalities in establishing the clinical diagnosis of 22q11.2DS. The aim of this thesis was to present different clinical characteristics of these patients and four patients who presented with a different clinical picture, complicating the diagnosis and leading to a later diagnosis of 22q11.2 deletion syndrome.
The focus was on a multidisciplinary and comprehensive approach to the detection and treatment of patients with this syndrome, emphasizing the importance of genetic testing, which is now the primary diagnostic method for confirming the disease. Timely genetic testing enables accurate diagnosis, which is crucial for planning appropriate treatment and monitoring of patients. However, it also has an important role in genetic counseling of families about the risks of the disease occurring in offspring and the possibilities of prenatal diagnosis
Preeclampsia and antepartum procedures
No full textPreeklampsija (PE) je multisistemska bolest obilježena hipertenzijom i proteinurijom ili novom pojavom hipertenzije uz značajan poremećaj funkcije organa sa ili bez proteinurije, koja se obično javlja nakon 20 tjedana trudnoće ili nakon poroda. Spada u hipertenzivne poremećaje u trudnoći koji su drugi uzrok maternalne smrtnosti u svijetu i uzrokuje komplikacije u do 8% trudnoća.
Unatoč napretku u razumijevanju patofiziologije preeklampsije, potrebna su daljnja istraživanja kako bi se razvile efikasnije strategije za prevenciju i liječenje ove kompleksne bolesti. Kada se dijagnosticira preeklampsija, važno je napraviti individualizirani plan skrbi temeljen na težini simptoma, gestacijskoj dobi i prisutnim komplikacijama. Liječenje uključuje kontrolu krvnog tlaka, prevenciju komplikacija i porođaj kao definitivnu terapiju preeklampsije. U ovom diplomskom radu stavit ću naglasak na antepartalne postupke kod preeklampsije koji imaju ključnu ulogu u upravljanju ovim ozbiljnim stanjem tijekom trudnoće. Preeklampsija je kompleksno stanje i javnozdravstveni problem koje zahtijeva pažljiv nadzor i pravovremeno djelovanje kako bi se smanjio rizik od komplikacija za majku i dijete.Preeclampsia (PE) is a multisystem disorder characterized by hypertension and proteinuria or new-onset hypertension with significant organ dysfunction, with or without proteinuria, typically occurring after 20 weeks of pregnancy or postpartum. It falls under hypertensive disorders of pregnancy, which are the second leading cause of maternal mortality worldwide and cause complications in up to 8% of pregnancies. Despite advances in understanding the pathophysiology of preeclampsia, further research is needed to develop more effective strategies for its prevention and treatment. When preeclampsia is diagnosed, it is important to establish an individualized care plan based on the severity of symptoms, gestational age, and existing complications. Treatment includes controlling blood pressure, preventing complications, and delivery as the definitive therapy for preeclampsia. In this thesis, I will focus on antepartum interventions for preeclampsia, which play a crucial role in managing this serious condition during pregnancy. Preeclampsia is a complex maternal health issue and public health problem that requires careful monitoring and timely intervention to reduce the risk of complications for both the mother and the baby
Thrombophilia – tendency for developing thrombosis
No full textTrombofilija je stanje povećane sklonosti za nastanak krvnih ugrušaka. Trombofilije se dijele na nasljedne i stečene. Nasljedna trombofilija najčešće nastaje zbog pojačane aktivnosti faktora zgrušavanja ili zbog smanjene aktivnosti inhibitora sustava zgrušavanja krvi. U nasljedne trombofilije s povišenom aktivnosti faktora koagulacije pripadaju mutacija faktor V Leiden (FVL) te mutacija gena za protrombin (FII20210A). U nasljedne trombofilije nastale zbog smanjene razine ili gubitka aktivnosti inhibitora koagulacije pripadaju nedostaci antitrombina, proteina C i proteina S. Stečene trombofilije nastaju zbog stanja u kojem je prisutna hiperkoagulabilnost, te se u njih ubrajaju brojne bolesti i stanja (antifosfolipidni sindrom, druge autoimunosne bolesti, maligne bolesti, debljina, trudnoća). Čimbenici koji dodatno doprinose hiperkoagulabilnosti su pušenje, starija životna dob te uzimanje nekih lijekova. Proces koji dovodi do stvaranja tromboze (Wirchovljev trijas) obuhvaća ozljedu endotela krvne žile, stazu krvi i hiperkoagulabilnost. Trombofilija je jedna od sastavnica koje uvećavaju rizik za nastanak tromboze. U ovom radu opisat će se najčešće trombofilije, te smisao testiranja na trombofiliju u određenim indikacijama, kako bi se spriječile tromboembolijske komplikacije i uvela ili promijenila odgovarajuća terapija.Thrombophilia is a state of increased tendency for the formation of blood clots. Thrombophilias are divided into hereditary and acquired. Hereditary thrombophilia is most often caused by increased activity of clotting factors or decreased activity of the blood clotting system. Factor V Leiden (FVL) mutation and mutation of the gene of prothrombin (FII20210A) belong to hereditary thrombophilias with increased coagulation factor activity. Deficiences of antithrombin, protein C and protein S belong to hereditary thrombophilias caused by reduced level or loss of coagulation inhibitors activity. Acquired thrombophilias are caused by conditions in which hypercoagulability is present, and they include various diseases and conditions (antiphospholipid syndrome, other autoimmune diseases, malignant diseases, obesity, pregnancy). Factors that contribute to hypercoagulability are smoking, older age and taking certain medications. The process which leads to the development of thrombosis (Wirchov's triad) includes injury to the endotelium of the blood vessel, blood stasis and hypercoagulability. Thrombophilia is one of the components that increase the risk of thrombosis. In this work, the most common thrombophilias will be described, and the reason of testing for thrombophilia in certain indications in order to prevent thromboembolic complications, and to start or change appropriate therapy
Comparison of hearing outcomes after stapes surgery depending on prosthesis type
No full textOtoskleroza je bolest koju karakterizira patološki proces pregradnje kosti u kojem se normalna, gusta endohondralna kost zamjenjuje metaplastičnom spongiozom, u koju se taloži kalcij. Novoformirana nepravilna i kruta kost fiksira pločicu stremena u ovalnom prozoru, što dovodi do provodnog gubitka sluha. Najučinkovitije liječenje otoskleroze je kirurško - stapedektomija ili stapedotomija. Stapedektomija uključuje potpuno uklanjanje stremena, nakon čega slijedi postavljanje proteze i transplantata mekog tkiva. S druge strane, stapedotomija uključuje stvaranje otvora u pločici stremena, u koji se zatim stavlja proteza. U stapedotomiji se koristi niz različitih proteza, no ovaj pregledni rad u fokus stavlja Nitinol protezu, Causse Loop Piston protezu i Big Easy Piston protezu, uspoređujući njihovu djelotvornost u postoperativnom poboljšanju praga sluha. Osnovna mjera poboljšanja sluha je zatvaranje zračno-koštanog prozora (eng. air-bone gap, ABG), izračunat kao razlika preoperativnog i postoperativnog ABG-a. Na osnovu tih vrijednosti je zaključeno da nema značajne razlike u postoperativnim ishodima sluha među tri uspoređivana tipa proteza. Vrsta kirurškog pristupa i tip proteze moraju biti odabrani u skladu s individualnim karakteristikama pacijenta.Otosclerosis is a disease characterized by a pathological bone remodeling process in which normal, dense endochondral bone is replaced by metaplastic spongiosa, in which calcium is deposited. The newly formed irregular and rigid bone fixes the stapes plate in the oval window, resulting in conductive hearing loss. The most effective treatment for otosclerosis is surgical – stapedectomy or stapedotomy. Stapedectomy involves the complete removal of the stapes, followed by the placement of a prosthesis and soft tissue graft. On the other hand, stapedotomy involves creating a small hole in the stapes plate, into which a prosthesis is then inserted. A variety of prostheses are used in stapedotomy, but this review focuses on the Nitinol prosthesis, the Causse Loop Piston prosthesis, and the Big Easy Piston prosthesis, comparing their effectiveness in improving postoperative hearing thresholds. The primary measure of hearing improvement is the air-bone gap (ABG) closure, calculated as the difference between preoperative and postoperative ABG. Based on these values, it was concluded that there is no significant difference in postoperative hearing outcomes among the three compared types of prostheses. The type of surgical approach and the choice of prosthesis must be made according to the individual characteristics of the patient
Intensive care of a child following cardiac surgery
No full textPrirođene bolesti srca (eng. congenital heart defect – CHD) obuhvaćaju poremećaje u građi i funkciji srca i velikih krvnih žila koji nastaju tijekom fetalnog razvoja. Radi se o jednim od najčešćih prirođenih defekata uopće. Procjenjuje se da je učestalost CHD-a oko 1 na 100 živorođene djece. Prirođene bolesti srca mogu promijeniti put i način kojim krv teče kroz srce, što značajno može narušiti hemodinamsku stabilnost djeteta već u najranijem razdoblju života. CHD mogu varirati od manjih i klinički beznačajnih pa sve do teških i životno ugrožavajućih poremećaja i defekata, a važnost toga naglašava činjenica da u prosjeku 1 od 4 djece s prirođenim srčanim greškama, ima takozvanu kritičnu prirođenu srčanu bolest (eng. critical congenital heart disease). Tijekom proteklih dvadeset godina, poslijeoperacijsko intenzivno liječenje pedijatrijskih kardijalnih bolesnika doživjelo je značajan razvoj, što je rezultiralo primjetnim povećanjem stope preživljenja. Ovaj napredak uglavnom je posljedica razvoja dijagnostičkih i kirurških postupaka, tehnika izvantjelesnog krvotoka (ITK), anestezioloških strategija te poslijeoperacijske intenzivne njege, ali i upotreba izvantjelesne mehaničke potpore života (eng. extracorporeal life support – ECLS) u rješavanju poslijeoperacijskog refraktornog šoka također je pridonijela boljim ishodima liječenja. Prijeoperacijska procjena pacijenata s prirođenim bolestima srca ključna je za uspješno perioperacijsko i poslijeoperacijsko zbrnjavanje. Napredak u multidisciplinarnom pristupu, u dijagnostičkim i kirurškim postupcima te optimizacija protokola poslijeoperacijske skrbi, značajno su poboljšali ishode pedijatrijskih pacijenata s prirođenim bolestima srca.Congenital heart defects (CHDs) encompass structural and functional abnormalities of the heart and major blood vessels that occur during fetal development. They represent one of the most common congenital defects overall. Estimated frequency of CHDs is approximately 1 in 100 live births. These conditions can alter the path and manner in which blood flows through the heart, significantly compromising the hemodynamic stability of the child even in the earliest stages of life. CHDs can range from minor and clinically insignificant to severe and life-threatening disorders and defects. The importance of this is underscored by the fact that on average, 1 in 4 children with congenital heart defects has a critical congenital heart disease. Over the past two decades, postoperative intensive care for pediatric cardiac patients has undergone significant development, resulting in a noticeable increase in survival rates. This progress is largely attributed to advancements in diagnostic and surgical procedures, techniques of cardiopulmonary bypass (ITK), anesthetic strategies, and postoperative intensive care. Additionally, the use of extracorporeal life support (ECLS) in managing postoperative refractory shock has also contributed to improved treatment outcomes. Preoperative assessment of patients with congenital heart defects is crucial for successful perioperative and postoperative management. Progress in multidisciplinary approaches, diagnostic and surgical procedures, and optimization of postoperative care protocols have significantly improved outcomes for pediatric patients with congenital heart defects
Principles of pressure therapy in surgery
No full textOvaj rad bavi se tematikom liječenja rana pod tlakom odnosno terapijom negativnim tlakom i njezinim mehanizmima, prednostima, manama i kliničkoj upotrebi. Rane predstavljaju oštećenje tkiva i mogu se odnositi samo na defekte kože ili mogu biti oštećene i podležeće strukture. Sa starenjem populacije, povećava se udio zdravstvenih intervencija u starijoj životnoj dobi kao i prevalencija kroničnih bolesti. U ovu skupinu spadaju i kronične rane koje predstavljaju kompleksan problem, kako sa medicinske, tako i sa financijske strane. U liječenju rana najčešće se primjenjuju standardni postupci obrade rane koji uključuju procjenjivanje stanja rane, čišćenje i priprema rane te njezino zatvaranje i previjanje - primarna obrada rane operatio sec. Fridrich. Kod većine akutnih rana, ovi postupci su dovoljni kako bi se postigao željeni rezultat. S druge strane, kronične rane ne slijede fiziološki obrazac cijeljenja i često zahtjevaju dodatnu potporu kako bi došlo do zatvaranja defekta. Potrebno je kirurškim postupkom kroničnu ranu pretvoriti u akutnu kako bi se potom ista mogla pripremiti za daljnju terapiju negativnim tlakom.
Terapija negativnim tlakom koristi subatmosferski tlak kako bi se stvorili optimalniji uvjeti. Primarni učinci koji se ostvaruju su zatvaranje ili smanjivanje defekta rane, mikrodeformacija stanica unutar rane, usisavanje viška tekućine i stabilizacija okoliša rane. Ovi učinci ostvaruju sekundarne rezultate koji uključuju proliferaciju stanica, stvaranje granulacijskog tkiva i angiogenezu. Terapija negativnim tlakom koristi se i kod otvorenih rana i kod kirurški zbrinutih rana. Međutim, nije preporučena kod rana s nekrotičnim tkivom, neliječenim osteomijelitisom, neenteričnim ili nepoznatim fistulama, malignitetom unutar rane te kod oslabljene kože ili izloženih krvnih žila, živaca, anastomoza i organa. Unatoč sigurnosti, postoje rizici te se mogu javiti komplikacije poput sindroma toksičnog šoka, enteričnih fistula, hemodinamske nestabilnosti, krvarenja, infekcija i bolnosti, koji se mogu smanjiti odgovarajućim postupcima i pažljivim nadzorom. Terapija negativnim tlakom se preporuča kod liječenja komplikacija šećerne bolesti kao što je dijabetičko stopalo, zatim u liječenju tlačnih vrijedova i drugih kroničnih rana. Od ostalih primjena, ova metoda se pokazala korisnom i kod prevencije i liječenja dubokih sternalnih infekcija, zatim kao terapija premošćivanja prije upotrebe tkivnih presadaka te u ubrzavanju cijeljenja zatvorenih kirurških rana.This paper addresses the topic of wound treatment using pressure, i.e., negative pressure therapy, and its mechanisms, advantages, disadvantages, and clinical application. Wounds represent tissue damage and can pertain solely to skin defects or also involve underlying structures. With an ageing population, the proportion of healthcare interventions in older age and the prevalence of chronic diseases are increasing. This group includes chronic wounds, which present a complex problem both medically and financially. In wound treatment, standard wound care procedures are commonly applied, which include assessing the wound condition, cleaning and preparing the wound, and closing and dressing it - wound management according to Friedrich. For most acute wounds, these procedures are sufficient to achieve the desired outcome. On the other hand, chronic wounds do not follow the physiological pattern of healing and often require additional support to close the defect. It is necessary to surgically convert a chronic wound into an acute one in order to prepare it for further negative pressure therapy.
Negative pressure therapy uses subatmospheric pressure to create more optimal conditions. The primary effects achieved are the closure or reduction of the wound defect, microdeformation of cells within the wound, suction of excess fluid, and stabilisation of the wound environment. These effects lead to secondary outcomes that include cell proliferation, granulation tissue formation, and angiogenesis. Negative pressure therapy is used for both open wounds and surgically treated wounds. However, it is not recommended for wounds with necrotic tissue, untreated osteomyelitis, non-enteric or unknown fistulas, malignancy within the wound, and weakened skin or exposed blood vessels, nerves, anastomoses, and organs. Despite its safety, there are risks and complications that can occur, such as toxic shock syndrome, enteric fistulas, hemodynamic instability, bleeding, infections, and pain, which can be minimised with appropriate procedures and careful monitoring. Negative pressure therapy is recommended for treating complications of diabetes, such as diabetic foot, pressure ulcers, and other chronic wounds. Among other applications, this method has proven useful in preventing and treating deep sternal infections, as bridging therapy before using tissue grafts, and in accelerating the healing of closed surgical wounds
Lusca: FIJI (ImageJ) based tool for automated morphological analysis of cellular and subcellular structures
No full textThe human body consists of diverse subcellular, cellular and supracellular structures. Neurons possess varying-sized projections that interact with different cellular structures leading to the development of highly complex morphologies. Aiming to enhance image analysis of complex biological forms including neurons using available FIJI (ImageJ) plugins, Lusca, an advanced open-source tool, was developed. Lusca utilizes machine learning for image segmentation with intensity and size thresholds. It performs particle analysis to ascertain parameters such as area/volume, quantity, and intensity, in addition to skeletonization for determining length, branching, and width. Moreover, in conjunction with colocalization measurements, it provides an extensive set of 29 morphometric parameters for both 2D and 3D analysis. This is a significant enhancement compared to other scripts that offer only 5–15 parameters. Consequently, it ensures quicker and more precise quantification by effectively eliminating noise and discerning subtle details. With three times larger execution speed, fewer false positive and negative results, and the capacity to measure various parameters, Lusca surpasses other existing open-source solutions. Its implementation of machine learning-based segmentation facilitates versatile applications for different cell types and biological structures, including mitochondria, fibres, and vessels. Lusca’s automated and precise measurement capability makes it an ideal choice for diverse biological image analyses
Importance of early recognition of a patient with advanced Parkinson's disease
No full textBrzim porastom oboljelih od Parkinsonove bolesti u svijetu javlja se sve veća potreba za pravodobnim prepoznavanjem i liječenjem uznapredovalih stadija bolesti. Uznapredovala Parkinsonova bolest karakterizirana je pojavom težih motoričkih i nemotoričkih simptoma te znatnim padom kvalitete života bolesnika i njihovih skrbnika. Karakteristični motorički simptomi su diskinezije i motorički simptomi nastali duljom upotrebom konvencionalne farmakološke terapije. Pod nemotoričke simptome uznapredovalih stadija bolesti ubrajaju se halucinacije, kognitivno propadanje i pojava demencije. Pri kliničkoj procjeni progresije bolesti bitno je individualizirati pristup i koristiti dodatne pomoćne alate poput upitnika o motoričkim i nemotoričkim simptomima. Kod pojave simptoma uznapredovale bolesti potrebno je bolesnicima preporučiti napredne metode liječenja. Pod njih spada levodopa/karbidopa intestinalni gel (LCIG), kontinuirana potkožna infuzija apomorfina (CSAI) i duboka moždana stimulaciju (DBS). Edukacijom bolesnika, neurologa i liječnika opće prakse može se postići optimalan pristup bolesnicima s uznapredovalom Parkinsonovom bolešću. Pravovremenim prepoznavanjem simptoma uznapredovalih stadija bolesti otvara se mogućnost liječenja naprednim metodama liječenja koje su prikladne nakon gubitka efektivnosti konvencionalne farmakološke terapije.With the rapid increase in Parkinson's disease cases worldwide, there is a growing need for timely recognition and treatment of advanced stages of the disease. Advanced Parkinson's disease is characterized by the emergence of severe motor and non-motor symptoms and a significant decline in the quality of life for patients and their caregivers. Typical motor
symptoms include dyskinesias and motor symptoms resulting from prolonged use of conventional pharmacological therapy. Non-motor symptoms in advanced stages include hallucinations, cognitive decline, and the onset of dementia. In clinical assessment of disease progression, it is crucial to individualize the approach and use additional supportive tools such as questionnaires on motor and non-motor symptoms. When symptoms of advanced disease appear, advanced treatment methods should be recommended to patients. These include levodopa/carbidopa intestinal gel (LCIG), continuous subcutaneous infusion of apomorphine (CSAI), and deep brain stimulation (DBS). By educating patients, neurologists, and general practitioners, an optimal approach to patients with advanced Parkinson's disease can be achieved. Timely recognition of symptoms in advanced stages of the disease opens up the possibility of treatment with advanced methods, which are suitable after the loss of effectiveness of conventional pharmacological therapy
Fetal indusium griseum is a possible biomarker of the regularity of brain midline development in 3T MR imaging: A retrospective observational study
No full textIntroduction: This study aimed to assess the visibility of the indusium griseum (IG) in magnetic resonance (MR) scans of the human fetal brain and to evaluate its reliability as an imaging biomarker of the normality of brain midline development.
Material and methods: The retrospective observational study encompassed T2-w 3T MR images from 90 post-mortem fetal brains and immunohistochemical sections from 41 fetal brains (16-40 gestational weeks) without cerebral pathology. Three raters independently inspected and evaluated the visibility of IG in post-mortem and in vivo MR scans. Weighted kappa statistics and regression analysis were used to determine inter- and intra-rater agreement and the type and strength of the association of IG visibility with gestational age.
Results: The visibility of the IG was the highest between the 25 and 30 gestational week period, with a very good inter-rater variability (kappa 0.623-0.709) and excellent intra-rater variability (kappa 0.81-0.93). The immunochemical analysis of the histoarchitecture of IG discloses the expression of highly hydrated extracellular molecules in IG as the substrate of higher signal intensity and best visibility of IG during the mid-fetal period.
Conclusions: The knowledge of developmental brain histology and fetal age allows us to predict the IG-visibility in magnetic resonance imaging (MRI) and use it as a biomarker to evaluate the morphogenesis of the brain midline. As a biomarker, IG is significant for post-mortem pathological examination by MRI. Therefore, in the clinical in vivo imaging examination, IG should be anticipated when an assessment of the brain midline structures is needed in mid-gestation, including corpus callosum thickness measurements