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Associations Between Parental Alexithymia and Family Dynamics in Autism Spectrum Disorder
No full textBackground/Objectives: Alexithymia is a condition marked by difficulties in identifying and expressing emotions, rooted in both physiological and behavioral mechanisms. The aim of this study was to investigate the relationship between parental alexithymia and family functioning in families of children with Autism Spectrum Disorder (ASD) compared to families of typically developing children (TD). Methods: The study sample included parents of children with ASD (n = 120) and a control group of parents of typically developing children (n = 120). A comprehensive set of self-report instruments was used to evaluate alexithymia levels, parental stress, family experience, resilience, cognitive emotion regulation, social support, and family flexibility and cohesion. Results: The analysis revealed that parental alexithymia in families of children with ASD was directly associated with lower levels of family flexibility and cohesion, independent of increased stress or reduced family resilience. Furthermore, the findings indicate that alexithymia in parents is directly linked to reduced family cohesion in ASD families. Conclusions: These results highlight the significant role of parental alexithymia in shaping family dynamics and underscore the necessity for targeted interventions that emphasize emotional skill-building, adaptive coping mechanisms, and resilience to stressful events. This research enhances the understanding of parental alexithymia’s effect on family functioning in the context of ASD
Cardiac Manifestations in Fabry Disease: A Case Report on Two Siblings
No full textBackground/objectives: Anderson-Fabry disease (FD) is a rare hereditary disorder caused by deficient alpha-galactosidase A activity, which leads to multisystemic complications, including significant cardiac involvement. In this case report, we describe two siblings with distinct cardiac manifestations of FD. Methods: The medical data of two siblings who were managed and treated at a tertiary hospital center in Croatia were obtained by detailed analysis of electronic medical records. All available data were structured in chronological order. Results: A 42-year-old male with chronic renal failure and severe left ventricular hypertrophy (LVH) was diagnosed with FD during testing for inclusion on the kidney transplant waiting list. The diagnosis was confirmed by cardiac magnetic resonance imaging (CMR), which revealed non-ischemic fibrosis typical of FD. Following enzyme replacement therapy (ERT), he underwent a successful kidney transplantation. The second case describes the 36-year-old brother, who was diagnosed through family screening and, despite normal initial cardiac ultrasound findings, exhibited early cardiac involvement through reduced T1-mapping values. Immediate initiation of ERT led to normalization of T1 values and successful renal transplantation. Conclusions: This report underscores the importance of family screening and early diagnosis in FD and highlights the role of CMR in detecting preclinical cardiac involvement
The Cell Biologist Potential of Cytomegalovirus to Solve Biogenesis and Maintenance of the Membrane Recycling System
No full textCytomegalovirus (CMV) is an important pathogen that extensively remodels the nucleus and cytosol of an infected cell to establish a productive infection [1,2,3,4]. Nuclear events include the formation of large structures that are known as nuclear replication centers (NRCs), where viral DNA replication and nuclear capsid assembly occur. Cytosolic events include the complete reorganization of the cytoskeleton and the membrane system (Figure 1). The reorganized membrane system (RMS) of the infected cell involves the relocation of the Golgi into a ring-like configuration that encloses a large perinuclear region containing early endosomes (EEs), recycling endosomes (REs), the trans-Golgi network (TGN), and expanded membrane structures of membrane intermediates at the EE-RE/ERC-TGN interface (Figure 1B) [5,6,7,8]. This structure, which is as large as the nucleus of the infected cell, is referred to as the cytoplasmic assembly complex (cAC) and is likely the site of the final steps of CMV virion assembly, including the envelopment of the tegumented capsids by cellular membranes and the establishment of the pathway for virion egress from the cell [2]. The endoplasmic reticulum (ER) and late endosomes (LEs) are extruded together with the secretory system of the cell from the AC towards the cell periphery (Figure 1B) [2,5,8]. This extensive reorganization of the membrane system, which is often accompanied by a compaction of the cell due to the restructuring of the cytoskeleton, obviously involves a redirection of membrane flux that is difficult to compare with that in the flat cell. Overall, little is known about the transport pathways, membrane flux, and remodeling of membrane organelles in such a reorganized membrane system
Epileptic Seizure Resulting in Cervical Trauma Led to Discovery of Underlying Spina Bifida and Spinal Hamartoma – a Case Report
No full textCilj: Cilj je ovog rada prikazati problematiku neuspjeha u kontroli refraktorne epilepsije uzrokovane urođenom malformacijom mozga. Drugi važan aspekt ovog rada jest povezanost poremećaja u razvoju koji mogu dovesti do refraktorne epilepsije, spine bifide te izuzetno rijetkih spinalnih tumora koji su pronađeni kod prikazane pacijentice. Prikaz slučaja: Ovaj prikaz slučaja pokazuje mladu pacijenticu s frakturom kralješka i subluksacijom uslijed epileptičnog napada. Pacijentica ima od prije poznatu refraktornu epilepsiju zbog periventrikularne nodularne heterotopije. Fraktura kralješka je liječenja kirurškom dekompresijom i fuzijom kralješka C4/C5. Poslijeoperacijska magnetska rezonancija otkrila je siringomijeliju C5/C6, spinu bifidu occultu i dvije epiduralne mase opisane radiološki kao hematomi. Kirurška resekcija pronađenih lezija i patohistološka analiza otkrila je da se radi o ependimalnoj cisti te o tvorbi bez jasnog zaključka. Pacijentica je početno imala tešku tetraparezu, ali nakon provedenog liječenja i fizikalne rehabilitacije potpuno se oporavila. Zaključci: Neuspjeh u liječenju i dobroj kontroli refraktorne epilepsije može dovesti do ozbiljnih posljedica i fraktura kralježnice. Poremećaji u razvoju živčanog sustava mogu biti uzrok takve epilepsije, što može biti povezano s drugim malformacijama, stoga je bitno proširiti obradu takvih pacijenata. Benigne spinalne tvorbe
rijedak su nalaz, ali važno ih je rano prepoznati te je potreban konsenzus patologa u definiranju točnih razlika između njih kako bi liječenje bilo što učinkovitije.Aim: The aim of this study is to present the issue of failure in controlling refractory epilepsy caused by congenital brain malformation. Another important aspect of this study is the connection between congenital malformations that can lead to refractory epilepsy, spinal bifida, and extremely rare spinal tumors found in the presented case. Case report: We report a young female patient with a vertebral fracture and subluxation as sequelae to an epileptic attack. Refractory epilepsy in our patient is known to be caused by periventricular nodular heterotopia. The fracture was managed with surgical decompression and anterior C4/C5 fusion. Postoperative MRI revealed a syringomyelia C5/C6 and spina bifida occulta, along with two posterior epidural masses that were radiologically described as hematomas. Surgical resection and analysis revealed that they were an ependymal cyst and a formation without a clear pathological conclusion. At initial examination, the patient was severely tetraparetic, but after physical rehabilitation, she had complete recovery. Conclusions: Failure in adequate treatment of refractory epilepsy can lead to serious consequences and spinal fractures. Congenital malformations are common cause of refractory epilepsy, and are associated with other malformations, so it is necessary to make a screening for other malformations. Benign spinal tumors are a rare finding, but it is important to recognize them early, and consensus among pathologists is necessary to define accurate differences between them for improved treatment outcome
STING in cancer immunoediting: Modeling tumor-immune dynamics throughout cancer development
No full textCancer immunoediting is a dynamic process of tumor-immune system interaction that plays a critical role in cancer development and progression. Recent studies have highlighted the importance of innate signaling pathways possessed by both cancer cells and immune cells in this process. The STING molecule, a pivotal innate immune signaling molecule, mediates DNA-triggered immune responses in both cancer cells and immune cells, modulating the anti-tumor immune response and shaping the efficacy of immunotherapy. Emerging evidence has shown that the activation of STING signaling has dual opposing effects in cancer progression, simultaneously provoking and restricting anti-tumor immunity, and participating in every phase of cancer immunoediting, including immune elimination, equilibrium, and escape. In this review, we elucidate the roles of STING in the process of cancer immunoediting and discuss the dichotomous effects of STING agonists in the cancer immunotherapy response or resistance. A profound understanding of the sophisticated roles of STING signaling pathway in cancer immunoediting would potentially inspire the development of novel cancer therapeutic approaches and overcome the undesirable protumor effects of STING activation
Sexual dysfunction, anxiety, depression and reduced quality of life in women with non-radiographic axial spondyloarthritis– a cross-sectional analysis
No full textAxial spondyloarthritis (ax-SpA) is a chronic inflammatory disease which causes a major deterioration of both physical and mental health. This research aimed to assess the prevalence of sexual dysfunction (SD), decreased quality of life (QoL), and depressive and anxiety symptoms in women with non-radiographic axial spondyloarthritis (nr-axSpA). A cross-sectional study was performed, involving 60 sexually active women with nr-axSpA and an age-matched group of 60 healthy women. Data were gathered through patient records and three standardized tools: the Female Sexual Function Index (FSFI), the Hospital Anxiety and Depression Scale (HADS), and the Short Form-36 (SF-36). Sexual dysfunction was found to be more prevalent in the nr-axSpA group (65% vs. 40%, p < 0.01). The mean FSFI result was substantially lower in patients than in healthy controls (19.71 +/- 11.32 vs. 24.75 +/- 8.36, p < 0.01) with significant differences of the scores in desire, arousal, lubrication and pain caused during intercourse. Women with nr-axSpA also experienced higher levels of anxiety (HADS-A: 8.52 +/- 3.62 vs. 5.88 +/- 3.83, p < 0.01) and depression (HADS-D: 6.27 +/- 3.38 vs. 3.28 +/- 2.77, p < 0.01). They also had lower physical (171.0 +/- 72.9 vs. 301.5 +/- 81.2, p < 0.01) and mental (204.9 +/- 83.9 vs. 277.1 +/- 74.5, p < 0.01) QoL scores. Women diagnosed with nr-axSpA are more prone to sexual dysfunction, increased anxiety and depression, and have a significantly worsened quality of life. The obtained results accentuate the necessity of addressing the patients' physical as well as their emotional issues through a comprehensive approach
Predictive and prognostic role of immune system cells, PD-1, PDL-1 and heat shock proteins in patients with triple negative, HER-2 positive and neoadjuvant treated breast cancer: istraživački podaci
No full textIstraživanje je osmišljeno kao retrospektivna opservacijska analitička studija tri različite ispitivane skupine. Prvu skupinu će činiti bolesnice s trostruko negativnim, a drugu skupinu s HER-2 pozitivnim karcinomom dojke, operirane na Zavodu za opću i onkološku kirurgiju KBC-a Rijeka i Odjelu za opću i abdominalnu kirurgiju OB Pula u vremenskom razdoblju od 2008. do 2016. godine. U trećoj skupini bi bile bolesnice s lokalno uznapredovalim rakom dojke koje su na Klinici za radioterapiju i onkologiju KBC-a Rijeka liječene neoadjuvantnom kemoterapijom i bioterapijom te operirane na Zavodu za opću i onkološku kirurgiju KBC-a Rijeka u periodu 2016.-2020.
Cilj istraživanja prve i druge skupine je izvršiti imunohistokemijsku karakterizaciju tumorskog upalnog infiltrata u trostruko negativnom i HER-2 pozitivnom karcinomu dojke, kao i odrediti prisutnost PD-1/PDL-1 i heat shock proteina u imunološkim i tumorskim stanicama. Namjera je analizirati odnos CD8, CD4, CD20, FOXP3, CD56 pozitivnih stanica, s tumorom povezanih makrofaga, te ekspresije PD-1/PDL-1 i heat shock proteina prema prognostičkim čimbenicima, prije svega pT, pN, pTNM i histološkom gradusu. Uslijediti će analiza međuodnosa upalnih stanica i ekspresije navedenih proteina, odnosno utvrđivanje njihovog potencijalnog prognostičkog značaja.
Cilj istraživanja treće skupine je utvrditi mogući prediktivni značaj kliničkih, histoloških i imunohistokemijskih karakteristika tumora, ekspresije PD-1/PDL-1 i heat shock proteina u imunološkim i tumorskim stanicama u odgovoru na neoadjuvantno liječenje uz imunohistokemijsku karakterizaciju limfocitnog upalnog infiltrata. Nadalje cilj je ispitati međuodnos upalnih stanica s patohistološkim osobinama tumora. Osim navedenog, za skupinu kod koje nije došlo do potpunog odgovora na neoadjuvantno liječenje, cilj je provesti imunohistokemijsku karakterizaciju imunološkog odgovora u materijalu nakon završenog neoadjuvantnog liječenja, odrediti prisutnost PD-1 i PDL-1 i heat shock proteina te usporediti s odgovorom na neoadjuvantno liječenje.Nakon što se pregledom informatičkih baza podataka, Vegasoft i IBIS, pronađu slučajevi prema uključnim kriterijima istraživanja, sirovi podaci se pohranjuju na odvojenu i zaštićenu lokaciju od lokacije radnih verzija istraživačkih podataka. Podaci će se obraditi i pripremiti za statističku analizu
Tetracyclines in Rheumatoid Arthritis: Dual Anti-Inflammatory and Immunomodulatory Roles, Effectiveness, and Safety Insights
No full textRheumatoid arthritis (RA) is a chronic autoimmune disease characterized by persistent inflammation, joint pain, and progressive cartilage and bone erosion. Despite advancements in RA management with disease-modifying antirheumatic drugs (DMARDs) and biologics, some patients remain refractory to conventional treatments. Tetracyclines, such as minocycline and doxycycline, exhibit anti-inflammatory and immunomodulatory properties, making them potential supplementary treatments. This narrative review explores their effectiveness, mechanisms of action, safety profiles, and current challenges in RA care. Tetracyclines have demonstrated significant immunomodulatory effects, including the inhibition of pro-inflammatory cytokines and matrix metalloproteinases (MMPs), which are critical in RA pathology. Clinical trials, including double-blind, placebo-controlled studies, have shown efficacy in reducing RA symptoms, particularly in early and refractory cases. However, their use remains limited by inconsistent evidence, small sample sizes, and concerns about antimicrobial resistance. Current guidelines for RA management do not explicitly recommend tetracyclines due to these limitations, although off-label use may be considered in specific cases. The use of tetracycline for RA is restricted by drug interactions causing bacterial resistance alongside unpredictable patient responses, hence the necessity for prudence in its prescription within a clinical setting. To overcome these limitations, the development of safer compounds, in-depth in silico analyses, and integration with personalized medicine approaches are needed. Overall, tetracyclines show promise as adjunct therapies in RA management due to their dual anti-inflammatory and immunomodulatory actions. This review highlights the need for further research to address gaps in evidence, including the development of modified tetracyclines with reduced antimicrobial effects and improved safety profiles, as well as the integration of personalized medicine approaches to optimize patient outcomes
EVALUATION OF CONTRAST-ENHANCED DIGITAL MAMMOGRAPHY AND DEVELOPEMENT OF A SCORING SYSTEM BASED ON BI-RADS CLASSIFICATION
No full textNaslov: Evalvacija kontrastne digitalne mamografije i razvoj bodovnika prema klasifikaciji
BI-RADS.
Uvod: Cilj je ove studije procjena kontrastne digitalne mamografije (CEM-a) te usporedba
lezija dojke na CEM-u i na magnetnoj rezonanciji (MR-u) dojke na osnovu pet morfoloških
i dinamičkih obilježja lezije. Predlažemo dijagram tijeka, odnosno bodovnik za klasifikaciju
lezija dojke u BI-RADS sustav na CEM-u temeljen na postojećemu bodovniku za
klasifikaciju lezija dojke u BI-RADS sustav na MR-u, koji se zove Kaiserov zbroj (KS,
prema engl. Kaiser score).
Materijali i metode: U studiju je uključen 81 ispitanik (žene i muškarci prosječne dobi
61,6 ± 11,8 godina). Kod svih je ispitanika uočeno patološko zasjenjenje na nalazu
digitalne mamografije (MG-a). Ispitanicima je učinjen ultrazvuk dojke (UZV), CEM, MR i
biopsija sumnjivih lezija širokom iglom (CNB, prema engl. core-needle biopsy). Biopsijom
su kod 58 ispitanika potvrđene zloćudne lezije, a kod 23 ispitanika dobroćudne lezije. Za
sve je lezije izračunat KS.
Rezultati: Kod pacijenata sa zloćudnim lezijama KS dobiven MR-om bio je 9 (IQR 8 – 9),
njegov ekvivalent na CEM-u također je bio 9 (IQR 8 – 9), a BI-RADS je bio 5 (IQR 4 – 5).
Kod pacijenata s dobroćudnim lezijama KS dobiven MR-om bio je 3 (IQR 2 – 3), njegov
ekvivalent na CEM-u bio je 3 (IQR 1,7 – 5), a BI-RADS je bio 3 (IQR 0 – 4). Nije bilo
značajne razlike između ROC-AUC vrijednosti CEM-a i MR-a (p = 0,749).
Zaključak: Nije bilo značajnih razlika u rezultatima KS-a između CEM-a i MR-a dojke.
Bodovnik koji predlažemo za klasifikaciju lezija dojke u BI-RADS sustav na CEM-u može
biti upotrijebljen u kliničkoj praksi jednako već postojećemu bodovniku za MR.Title: Evaluation of Contrast-enhanced Mammography and Development of Flowchart for
BI-RADS Classification of Breast Lesions.
Introduction: This study aims to evaluate contrast-enhanced digital mammography
(CEM) and compare breast lesions on CEM and breast magnetic resonance imaging
(MRI) using five morphological and dynamic characteristics of the lesions. We propose a
flowchart, or a scoring system, for classifying breast lesions in the BI-RADS system on
CEM, based on the existing scoring system for classifying breast lesions in the BI-RADS
system on MRI, called the Kaiser score (KS).
Materials and methods: The study included 81 participants (both women and men of
average age 61.6 ± 11.8 years) who exhibited pathological opacities on digital
mammography (MG) findings. Breast ultrasound (US), CEM, MR, and Core-Needle
Biopsy (CNB) of suspicious lesions were performed on the participants. Malignant lesions
were confirmed by biopsy in 58 participants, while benign lesions were confirmed in 23
participants. KS was calculated for all lesions.
Results: In the patients with malignant lesions, the MRI-derived KS was 9 (IQR 8–9), its
CEM equivalent was 9 (IQR 8–9), and BI-RADS was 5 (IQR 4–5). In patients with benign
lesions, MRI-derived KS was 3 (IQR 2–3), its CEM equivalent was 3 (IQR 1.7–5), and
BIRADS was 3 (IQR 0–4). There was no significant difference between the ROC-AUC of
CEM and MRI (p = 0,749).
Conclusion: There were no significant differences in Kaiser score results between breast
CEM and MRI. The scoring system that we propose for classifying breast lesions in the
BI-RADS system on CEM can be used in clinical practice, much as the existing scoring
system for breast MRI
Buccal Mucosa Graft in Urethral Stricture Repair – A Case Report
No full textCilj: Prikazati etiologiju i kliničke manifestacije striktura uretre, ali i istaknuti važnost njihova liječenja u što ranijem tijeku bolesti otvorenim kirurškim tehnikama, u ovom slučaju upotrebom bukalne sluznice. Prikaz slučaja: Pacijent u dobi od 64 godine zaprimljen je na Kliniku za urologiju zbog strikture uretre i sumnje na enterovezikalnu fistulu. Tijekom prvog boravka u bolnici učinjena je optička uretrotomija dviju semicirkularnih kratkih striktura bulbarnog dijela uretre hladnim nožićem. Eksploracijom mokraćnog mjehura nije pronađena vezikalna fistula. U pacijenta su se redovito provodile mehaničke dilatacije uretre kako bi se spriječila restenoza. Nakon godinu dana redovitih mehaničkih dilatacija počeli su se javljati simptomi donjeg mokraćnog sustava, a pacijent je bio liječen i antibiotski zbog akutnog prostatitisa. Pacijent je bio podvrgnut drugoj uretrotomiji, ponovno zbog dviju striktura bulbarnog dijela uretre. Bolesnik je ubrzo nakon operacije ponovno razvio simptome donjeg mokraćnog sustava – cistoskopski je utvrđena ponovna striktura te je bolesnik pristao na uretroplastiku upotrebom bukalne sluznice. Tri mjeseca nakon učinjene uretroplastike, uretroskopija je bila uredna, a bolesnik više nije imao simptome donjih mokraćnih puteva. Zaključak: Zlatni standard u liječenju striktura uretre jest uretroplastika, koja se ističe visokom stopom uspješnosti. Unatoč tome, mnogi pacijenti i dalje se podvrgavaju manje uspješnim tehnikama liječenja. Ovaj prikaz slučaja naglašava važnost pravovremene primjene otvorene kirurgije kako bi se izbjegle komplikacije povezane s manje uspješnim metodama liječenja. Rano usmjeravanje pacijenata prema uretroplastici kao optimalnoj opciji liječenja može značajno smanjiti rizik od nepotrebnih komplikacija i trajno riješiti problem striktura uretre.Aim: To present the etiology and clinical manifestations of urethral strictures and emphasize the importance of early treatment using open surgical techniques, specifically with buccal mucosa grafts. Case Report: A 64-year-old patient was admitted to the Urology Clinic with a urethral stricture and suspected enterovesical fistula. Initially, an optical urethrotomy was performed using a cold knife to treat two semicircular short strictures in the bulbar part of the urethra. No vesical fistula was found upon bladder exploration. The patient underwent urethral dilation to prevent restenosis. After a year of regular urethral dilations, the patient began experiencing lower urinary tract symptoms again and was also treated with antibiotics for acute prostatitis. A second urethrotomy was performed due to recurrent strictures in the bulbar region of the urethra. Shortly after this operation, the patient again exhibited lower urinary tract symptoms. Cystoscopy confirmed a recurrent stricture, and the patient opted for urethroplasty using a buccal mucosa graft. Three months post-urethroplasty, urethroscopy showed a normal urethra, and the patient no longer experienced lower urinary tract symptoms. Conclusion: The gold standard in the treatment of urethral strictures is urethroplasty. Despite this, many patients still undergo less successful treatment techniques. This case report emphasizes the importance of timely open surgery to avoid complications associated with less effective treatment methods. Early referral of patients to urethroplasty as the optimal treatment option can significantly reduce the risk of unnecessary complications and provide a permanent solution to the problem of urethral strictures