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Genetic testing of inherited thrombophilia
No full textInherited thrombophilia refers to a genetic predisposition to thrombosis. Genetic testing identifies at-risk individuals and supports clinical decisions. Key mutations are associated with various thrombophilias, guiding molecular genetic testing approaches such as PCR and Sanger sequencing. In Factor V Leiden (FVL), a mutation in the F5 gene causes resistance to APC, increasing the procoagulant state. The Prothrombin G20210A mutation in the F2 gene raises prothrombin levels, a key protein in coagulation. Deficiencies in Protein C, Protein S, and Antithrombin III, though less common, impair natural anticoagulant pathways and can cause severe conditions in homozygotes. Indications for genetic testing vary by scenario, essential for personalized patient care. Benefits must be balanced against limitations like psychological impact, cost, ethical issues, and privacy concerns. Testing should follow scientific guidelines and involve genetic counseling for informed decision-making and proper use of genetic information
Diaphyseal fracture of the long bones during childhood : graduate thesis
No full textPrijelomi dijafize su među najčešćim ozbiljnijim ozljedama koje liječe dječji kirurzi. Broj prijeloma povećava se s godinama kod dječaka u pubertetu dok kod djevojčica broj fraktura prema pubertetu opada. Najčešće do prijeloma dođe u palčanoj kosti. Nezreli kostur razlikuje se od kostura odraslih na mnogo načina koji se moraju uzeti u obzir jer te karakteristike izravno utječu na dijagnozu i liječenje mišićno-koštanih ozljeda. Kod djece je veća sposobnost remodeliranja. Dijafize do određene dobi toleriraju angulacije, ali kasnije puno manje i onda se moraju kirurški liječiti. Razlikujemo nekoliko vrsta prijeloma: poprečni, spiralni, kosi, s trokutastim ulomkom i kominutivni. Simptomi prijeloma su deformacija u području udova, patološka pokretljivost, krepitus fragmenata kostiju i disfunkcija udova. S takvom kliničkom slikom, dijagnoza prijeloma kosti može se utvrditi već u fazi prve medicinske pomoći dok se kasnije potvrđuje pomoću rendgenske dijagnostike. Tri su osnovna načela liječenja prijeloma: repozicija, retencija ulomaka i rana funkcijska mobilizacija (rehabilitacija). Liječenje može varirati ovisno o ozbiljnosti prijeloma i dobi djeteta. Kirurški pristup uključuje različite metode fiksacije slomljenih dijelova kosti, poput unutarnjih klinova, ili čavala spojenih na vanjski okvir (vanjski fiksator). Kod djece se najčešče koristi ESIN metoda osteosinteze. Nekirurški ili konzervativni postupci obično su različiti tipovi gipsanih udlaga sa ili bez ekstenzije (pri čemu se primijeni sila rastezanja).Diaphyseal fractures are among the most common serious injuries treated by orthopedic surgeons. The number of fractures increases with age in boys during puberty, while in girls, the number of fractures decreases towards puberty. The most frequent fractures occur in the radius. The immature skeleton differs from the adult skeleton in many ways that must be taken into account because these characteristics directly affect the diagnosis and treatment of musculoskeletal injuries. Children have a greater ability of bone remodeling. Diaphyses tolerate angulations up to a certain age, but much less so later, requiring surgical treatment. We distinguish several types of fractures: transverse, spiral, oblique, those with a triangular fragment, and comminuted. Symptoms of fractures include limb deformity, pathological mobility, crepitus of bone fragments, and limb dysfunction. With such a clinical picture, the diagnosis of a bone fracture can be made already at the stage of first medical aid and later confirmed by X-ray diagnostics. There are three basic principles of fracture treatment: reposition, retention of fragments, and early functional mobilization (rehabilitation). Treatment may vary depending on the severity of the fracture and the child's age. The surgical approach includes various methods of fixation of broken bone parts, such as internal pins or nails connected to an external frame (external fixator). In children, the ESIN method of osteosynthesis is most commonly used. Non-surgical or conservative procedures typically involve different types of plaster splints with or without extension (where a stretching force is applied)
Systemic Therapy for Melanoma
No full textKožni melanom je maligna novotvorina melanocita čija je incidencija u stalnom porastu.
Čimbenici rizika su intermitentno izlaganje intenzivnom sunčevom zračenju, prisutnost
displastičnih i kongenitalnih nevusa, pozitivna obiteljska anamneza na melanom i fototip
kože I i II. Dijagnostika melanoma temelji na detaljnom dermatoskopskom i fizikalnom
pregledu te patohistološkom nalazu. Liječenje je potrebno prilagoditi stadiju bolesti, a
uključuje kiruršku intervenciju ako je ona moguća te adjuvantnu terapiju. Sustavna
adjuvantna terapija doživjela je pravu revoluciju razvojem imunoterapije i ciljane terapije
i postala je standard u liječenju melanoma. Imunoterapijski lijekovi sprječavaju inhibiciju
stanične imunosti koja stanicama melanoma omogućava izbjegavanje imunološkog
odgovora. Ciljana terapija pak blokira stanične mehanizme bitne u procesu proliferacije
pa na taj način zaustavlja rast i umnožavanje stanica melanoma. Ponekad su u uporabi i
određene kombinacije ovih dviju terapija ili u kombinaciji sa sustavnom kemoterapijom.
U ovom radu su prikazani osnovni terapijski pristupi sustavnom liječenju melanoma te
njihova primjena u određenim stadijima bolesti.Cutaneous melanoma is a malignant neoplasm of melanocytes, with constantly
increasing incidence. Risk factors are intermittent exposure to intense solar radiation,
the presence of dysplastic and congenital nevi, a positive family history of melanoma,
and skin phototypes I and II. Melanoma diagnosis is based on detailed dermatoscopic
and physical examination and pathohistological findings. Treatment must be adapted to
the stage of the disease, and includes surgical intervention if possible and adjuvant
therapy. Systemic adjuvant therapy experienced a real revolution with the development
of immunotherapy and targeted therapy and became the standard in the treatment of
melanoma. Immunotherapy prevents the inhibition of cellular immunity that allows
melanoma cells to evade the immune response. Targeted therapy, on the other hand,
blocks cellular mechanisms essential in the proliferation process, thus stopping the
growth and multiplication of melanoma cells. Sometimes certain combinations of these
two therapies are used and sometimes with systemic chemotherapy. This paper presents
the basic therapeutic approaches in the systemic treatment of melanoma and their
application in certain stages of the disease
Non-alcoholic fatty liver disease
No full textNealkoholna masna bolest jetre definirana je prisutnošću steatoze i metaboličkih rizičnih čimbenika te odsutnošću pretjerane konzumacije alkohola i ostalih jetrenih bolesti. Prevalencija nealkoholne masne bolesti jetre u svijetu u odraslih osoba je 25%. Brojni genetički i okolišni čimbenici se isprepliću i u svake osobe tvore individualnu kombinaciju patogenetskih čimbenika koji djeluju na pojedinca uzrokujući kliničku sliku NAFLD-a. NAFLD je heterogena bolest s različitim stopama progresije i ishodom. U većine pacijenata nealkoholna masna bolest jetre je stabilna ili sporo progresivna i neće prijeći u cirozu. NAFLD obuhvaća spektar bolesti od nealkoholne steatoze s blagom upalom ili bez upale do nealkoholnog steatohepatitisa kojeg karakterizira upala i brža progresija do fibroze. U pravilu, pacijenti s NAFLD-om su asimptomatski. Komplikacije bolesti su portalna hipertenzija, hepatocelularni karcinom, kardiovaskularne i maligne bolesti. Vodeći uzroci smrti u osoba s NAFLD-om su kardiovaskularna bolest i ekstrahepatalne maligne bolesti (kolorektalni karcinom i karcinom dojke). Razvijene su neinvazivne metode koje imaju prednost nad biopsijom, a njihova učinkovitost u procjeni stanja bolesti iznimno je visoka. Budući da nema odobrene terapije, a pronađena je povezanost između metaboličkih čimbenika (pretilost, inzulinska rezistencija, šećerna bolest, hiperlipidemija) i nastanka NAFLD-a i progresije, racionalno rješenje je usmjeravanje terapije prema liječenju metaboličkih čimbenika.Non-alcoholic fatty liver disease is defined by presence of steatosis in association with metabolic risk factors and in absence of excessive alcohol intake or other liver diseases. World prevalence of NAFLD is 20% in adults. Genetic and environmental factors interplay and form individual combination of pathogenetic factors which cause clinically manifested NAFLD. NAFLD is heterogenous disease with different progression and different outcome. Non-alcoholic fatty liver disease is mostly stable and slowly progressive disease, and it won't cross into cirrhosis that easily. NAFLD spectrum includes mild steatosis with or without inflammation, non-alcoholic steatohepatitis (NASH) characterised by inflammation and faster progression into fibrosis. Patients with NAFLD are asymptomatic. Complications of disease include portal hypertension, hepatocellular carcinoma, cardiovascular disease and malignancies such as colorectal carcinoma and breast cancer. Non-invasive diagnostic methods with high efficacy are developed and have advantage over biopsy. There is no approved therapy for NAFLD, which is why obesity, insulin resistance, diabetes type 2 and dyslipidaemia are targets in treating NAFLD
Anaplastic Ependymoma – A Rare Cause of Hypertensive Hydrocephalus in an Infant (a Case Report)
No full textCilj: Ukazati na nužnost pravodobnog prepoznavanja i adekvatnog zbrinjavanja hipertenzivnog hidrocefalusa - vitalno ugrožavajuće komplikacije u vidu hernijacije moždanih struktura, uz diferencijalno dijagnostičko razmišljanje u smjeru intrakranijskih novotvorina. Prikaz slučaja: Žensko dojenče od četiri mjeseca upućeno je na hitnu bolničku obradu zbog povećanja opsega glave uz kliničke znakove povišenog intrakranijskog tlaka. Fizikalnim pregledom uočen je hipertonus, pogled zalazećeg sunca, naglašen vaskularni crtež kranija i široko otvorena izbočena velika fontanela. Ultrazvuk mozga prikazao je hidrocefalus i ljevostranu tvorbu sa značajnim pomakom mozgovine (mass-efekt). Hitnim CT-om mozga verificirana je ljevostrana temporoparijetalna ekspanzivna tvorba dimenzija 100 x 62 x 74 mm (AP x LL x CC). Proširene komore, lijeva lateralna i treća komora bile su potisnute kontralateralno čime je nastala subfalcijalna hernijacija od 11 mm. Indicirano je hitno postavljanje vanjske drenaže likvora uz antiedematoznu terapiju (deksametazon, manitol). Pacijentica je hitno premještena u KBC Zagreb te je istog dana učinjena totalna ekstirpacija tumora. Histopatološkom pretragom postavljena je dijagnoza anaplastičnog ependimoma gradusa III. Poslijeoperacijski tijek bio je kompliciran trombozom transverzalnog i sigmoidnog sinusa te sindromom cerebralno uvjetovanog gubitka soli. Dva tjedna nakon učinjenog zahvata pacijentica je premještena u KBC Rijeka radi provođenja adjuvantne kemoterapije prema protokolu HIT 2000, bez odgađanja i težih nuspojava. Redovito je praćena putem dnevne bolnice. Osam godina nakon završenog liječenja djevojčica je u remisiji, urednog intelektualnog i tjelesnog razvoja. Zaključak: Anaplastični ependimom, iako rijedak u najranijoj životnoj dobi, treba razmotriti u diferencijalnoj dijagnozi povišenog intrakranijskog tlaka u dojenčeta. Pravodobnom dijagnozom, hitnom neurokirurškom intervencijom i odabirom optimalne poslijeoperacijske kemoterapije moguće je izlječenje uz minimalne neurološke sekvele.Aim: Anaplastic ependymoma is a highly aggressive tumor that can cause life threatening complications. The aim of the case presentation is to raise awareness of the existence of rare neoplasms with symptoms of increased intracranial pressure and brain herniation. Early suspicion, appropriate diagnosis and treatment can result in a complete cure. Case report: A four-month-old girl was referred to Clinical Hospital Center Rijeka by a primary care physician due to an increase in head circumference, irritability, and high-pitched cry. Physical examination revealed hypertonus, downward gaze (“setting-sun” sign), swollen veins over the scalp, bulging fontanelles and separated sutures. Brain ultrasound showed large hydrocephalus with left-sided supratentorial formation. Computed tomography demonstrated expansive formation of the left hemisphere with hypertensive hydrocephalus. Magnetic resonance imaging verified left supratentorial tumor measuring 100x62x74 mm (APxLLxCC). Dilated left lateral ventricle and the third ventricle were pushed to the right side, with subfalcine herniation of 11 mm. The patient was transferred the same day to the Clinical Hospital Center Zagreb for emergency neurosurgical intervention. Complete tumor resection was performed. Histopathological diagnosis was anaplastic ependymoma grade III. The postoperative course was uneventful. After recovery, the patient was transferred to our hospital for further treatment. Adjuvant chemotherapy according to the HIT 2000 protocol was carried out, without serious toxicity. Eight years after the end of the treatment, the girl is in continuous remission and regular physical growth and intellectual development. Conclusion: Anaplastic ependymoma is a rare pediatric tumor of uncertain prognosis. The mainstay of the treatment remains maximal safe surgery (ideally gross surgical resection), followed by adjuvant chemotherapy. Recent genetic studies have led to the identification of biologically distinct subtypes, suggesting more adequate means for risk stratification. Early diagnosis and appropriate treatment contribute to a successful outcome
Systemic Inflammatory Index in Polycythemia Vera and Its Prognostic Implications
No full textBackground: This study aimed to evaluate the clinical and prognostic associations of the systemic inflammatory index (SII) in polycythemia vera (PV) patients. SII integrates information on absolute neutrophil (ANC), lymphocyte (ALC), and platelet counts into one index (calculated as ANCxALC/platelet count) and was previously shown to predict thrombotic and mortality risks in the general population. Methods: A total of 279 PV patients treated in several hematologic centers in Croatia and Serbia was retrospectively evaluated. Results: The median SII for the overall cohort was 1960. Higher SII stratified at the specific cut-off points was significantly associated with shorter time to thrombosis (TTT; p = 0.004) driven by arterial thrombotic events, and shorter overall survival (OS; p < 0.001). Higher SII was able to refine the European Leukemia Net-defined high-risk patient subgroup for both thrombotic and survival risks, especially in individuals over 60 years of age. SII and all other evaluated CBC components and indices (leukocytes, ANC, ALC, platelets, neutrophil to lymphocyte ratio (NLR), and platelet to lymphocyte ratio (PLR)) demonstrated low-to-modest prognostic properties, whereas SII outperformed other parameters with respect to TTT and OS prognostications. Discussion: The presented results complement prior studies evaluating the prognostic performance of different CBC components for thrombotic and survival risk predictions and offer more options to personalize PV treatments
Experimental data
No full textThis dataset contains raw EPR spectra, raw data of potentiometric titrations and raw data of DLS particle size distribution measurements.The data was collected using Varian E-109 EPR spectrometer, potentiometric Jonction titration instrument, and Brookhaven NanoBrook OMNI Zetasizer
Overcoming Reductionism and Crafting a New Synthesis: Theodicy Confronting Pain and Suffering
No full textThis book explores and sheds light on the contemporary discourse between science and religion. Employing the methodological approach of modern science, Overcoming Reductionism aims to explain natural phenomena not in isolation from philosophical or theological interpretations. The book then focuses on the concept of pain. Although pain is a phenomenon familiar to all humans, defining it exclusively in terms of nociception proves challenging. This book therefore delves into the intricate nature of the phenomenon, critically acknowledging the way pain profoundly influences the construction of one's existential meaning, particularly concerning matters of faith
Maintaining the Balance: Regulation of NK Cell Activity
No full textNatural Killer (NK) cells, integral components of the innate immune system, play a crucial role in the protection against intracellular threats. Their cytotoxic power requires that activation is tightly controlled, and in this, they take a unique position within the immune system. Rather than depending on the engagement of a single activating receptor, their activation involves a delicate balance between inhibitory and activating signals mediated through an array of surface molecules. Only when this cumulative balance surpasses a specific threshold do NK cells initiate their activity. Remarkably, the activation threshold of NK cells remains robust even when cells express vastly different repertoires of inhibitory and activating receptors. These threshold values seem to be influenced by NK cell interactions with their environment during development and after release from the bone marrow. Understanding how NK cells integrate this intricate pattern of stimuli is an ongoing area of research, particularly relevant for cellular therapies seeking to harness the anti-cancer potential of these cells by modifying surface receptor expression. In this review, we will explore some of the current dogmas regarding NK cell activation and discuss recent literature addressing advances in our understanding of this field
Metabolic Syndrome Drug Therapy: The Potential Interplay of Pharmacogenetics and Pharmacokinetic Interactions in Clinical Practice: A Narrative Review
No full textMetabolic syndrome (MetS) presents a significant global health challenge, characterized by a cluster of metabolic alterations including obesity, hypertension, insulin resistance/dysglycemia, and atherogenic dyslipidemia. Advances in understanding and pharmacotherapy have added complexity to MetS management, particularly concerning drug interactions and pharmacogenetic variations. Limited literature exists on drug–drug–gene interactions (DDGIs) and drug–drug–transporter gene interactions (DDTGIs), which can significantly impact pharmacokinetics and pharmacodynamics, affecting treatment outcomes. This narrative review aims to address the following three key objectives: firstly, shedding a light on the PK metabolism, transport, and the pharmacogenetics (PGx) of medicines most commonly used in the MetS setting (relevant lipid-lowering drugs, antihypertensives and antihyperglycemics agents); secondly, exemplifying potential clinically relevant pharmacokinetic drug interactions, including drug–drug interactions, DDGIs, and DDTGIs; and, thirdly, describing and discussing their potential roles in clinical practice. This narrative review includes relevant information found with the use of interaction checkers, pharmacogenetic databases, clinical pharmacogenetic practice guidelines, and literature sources, guided by evidence-based medicine principles