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Darier's disease
No full textDB je rijetka genetska kožna bolest koja se nasljeđuje autosomno dominantno. Uzrokovana je mutacijama u ATP2A2 genu, što rezultira poremećajem u regulaciji kalcija unutar stanica kože. Klinička slika uključuje keratotične papule koje se obično pojavljuju na seboroičnim područjima poput lica, vlasišta, prsa i leđa. Lezije mogu biti bolne i sklone infekcijama. Trenutno ne postoji u potpunosti adekvatna terapija koja bi dovela do izlječenja ove bolesti, međutim pravilna dijagnoza i edukacija pacijenata mogu značajno olakšati njezino upravljanje. Bolest se često povezuje s psihijatrijskim poremećajima, uključujući depresiju i anksioznost, što dodatno komplicira stanje oboljelih.Darier's disease is a rare genetic skin disease that is inherited in an autosomal dominant manner. It is caused by mutations in the ATP2A2 gene, which results in a disturbance in calcium regulation within skin cells. The clinical picture includes keratotic papules that usually appear on seborrheic areas such as the face, scalp, chest, and back. The lesions can be painful and prone to infection. There is currently no known therapy to cure this disease, but proper diagnosis and patient education can greatly facilitate its management. The disease is often associated with psychiatric disorders, including depression and anxiety, which further complicates the condition of sufferers
Association between nonalcoholic fatty liver disease and extrahepatic malignancies
No full textNealkoholna masna bolest jetre trenutno predstavlja najčešći uzrok kronične jetrene bolesti u svijetu te je blisko povezana s metaboličkim sindromom. Prisutna je u 25% svjetskog stanovništva, a zbog porasta u njenoj incidenciji predstavlja golemi socioekonomski teret u globalnom zdravstvu. Promatračka istraživanja posljednjih godina pokazala su povezanost NAFLD-a s ekstrahepatalnim karcinomima, posebice s gastrointestinalnim oblicima. Povezanost je također ustanovljena bez obzira na prisutnost pretilosti, dijabetesa i metaboličkog sindroma što govori o mogućnosti NAFLD-a kao potencijalno dobrog biološkog markera za rizik od oboljevanja od ekstrahepatalnih karcinoma. Potrebno je provesti daljnja istraživanja kako bi se utvrdili mehanizmi koji su odgovorni za ovu povezanost te kako bi se uvidjelo ima li potrebe za provođenjem probira za ekstrahepatalne karcinome u osoba s NAFLD-om.Non-alcoholic fatty liver disease is currently the most common cause of chronic liver disease in the world and is closely related to metabolic syndrome. It is present in 25% of the world's population, and due to the increase in its incidence, it represents a huge socioeconomic burden in global health. Observational studies in recent years have shown the association of NAFLD with extrahepatic cancers, especially with gastrointestinal forms. The association was also established regardless of the presence of obesity, diabetes and metabolic syndrome, which suggests the possibility of NAFLD as a potentially good biological marker for extrahepatic cancer risk. Further research is needed to determine the mechanisms responsible for this association and to see if there is a need of screening for extrahepatic cancers in people with NAFLD
Burn injuries and their surgical treatment
No full textBurn injuries represent a significant global health challenge due to their complex nature and the extensive care required for optimal recovery. This thesis, "Burn Injuries and Their Surgical Treatment," provides a comprehensive analysis of the surgical management of burn injuries, highlighting the significance of early intervention and innovative techniques in enhancing patient outcomes. The study explores various types of burns, including thermal, electrical, chemical, and radiation burns, and discusses their epidemiology and etiology. Surgical approaches such as early excision, skin grafting, and the use of advanced technologies like tissue engineering, nanotechnology, and artificial intelligence are examined in detail. The thesis also addresses the challenges in infection control, graft rejection, and the need for continuous advancements in surgical techniques. Emphasis is placed on the potential of emerging technologies to revolutionize burn care, improve healing, reduce scarring, and enhance functional restoration. The findings underscore the importance of interdisciplinary collaboration and ongoing research in developing effective treatment strategies for burn patients
Novelties of Myasthenia gravis therapy
No full textMiastenija gravis (MG) je jedna od najpoznatijih autoimunih neuromuskularnih bolesti, uzrokuje slabost skeletnih mišića. Dolazi od grčkih riječi “mia” i “stenia” što znači mišić i slabost te latinske riječi “gravis” što znači ozbiljan, težak. U 17. stoljeću zabilježen je prvi slučaj Miastenije gravis u američkoj saveznoj državi Virginia. Prisutan je bimodalan oblik incidencije po dobi, najčešće se javlja oko 30. godine života. Najvažnije obilježje ove bolesti je mišićna slabost. Opći izgled pacijenta ukazuje na dojam osobe sa tužnim izgledom lica ili koja djeluje pospano kao posljedica slabosti lica i ptoze. U tenzilonskom testu se primjenjuje edrofonij klorid, ima brzi početak djelovanja, daje se intravenozno u dozi od 10 mg. Liječenje pacijenata bi trebalo biti indvidualizirano na temelju težine kliničke slike oboljelih. Inhibitori acetilkolinesteraze se smatraju prvom linijom liječenja. Koriste se i nesteroidni imunosupresivni lijekovi, za učinak trebaju nekoliko mjeseci. Ciklosporin A ima imunomodulatorni učinak, poznat kao blokator kalcineurina. Plazmafereza se koristi za kratkorajno liječenje sa ciljem postizanja brzog i privremenog kliničkog poboljšanja. Imunoadsorpcija je posebna tehnika čiji je cilj uklanjanje patogenih anti-AChR antitijela. Biološka terapija počinje pokazivati veću sigurnost i visoku selektivnost u odnosu na klasične imunosupresive. Eculizumab je prvi lijek za MG kojeg je odobrila Američka agencija za hranu i lijekove (FDA) 2017. godine. Zilucoplan je inhibitor komplementa za liječenje generaliziranog oblika MG-a sa anti-AChR pozitivnim antitijelima. Efgartigimod alfa ima blage do umjerene nuspojave, relativno dobro se podnosi. Pretklinička istraživanja pokazuju da CAAR-T stanice mogu bez poteškoća selektivno potisnuti limfocite B koji eksprimiraju anti-MuSK antitijela. Unatoč dobrim rezultatima kliničkih ispitivanja, prisutan je oprez. U personaliziranoj terapiji važnu ulogu mogu imati cirkulirajuće miRNA molekule.Myasthenia gravis (MG) is one of the most famous autoimmune neuromuscular diseases, it causes skeletal muscle weakness. It comes from Greek words "mia" and "stenia" (muscle and weakness) and the Latin word "gravis" (serious, heavy). In the 17th century, the first case of MG was recorded in the state of Virginia. There is a bimodal form of incidence according to age, it appears mostly around the age of 30. The most important feature of this disease is muscle weakness. The patient's appearance indicates the impression of a person with a sad facial expression, looking sleepy as a result of facial weakness and ptosis. In the Tensilon test, edrophonium chloride is used, it has a rapid onset of action, and it is given intravenously in a dose of 10 mg. Treatment of patients should be individualized. Acetylcholinesterase inhibitors are considered as the first line of treatment. Nonsteroidal immunosuppressive drugs are also used, they need a few months to create an effect. Cyclosporin A has an immunomodulatory effect, also known as a calcineurin blocker. Plasmapheresis is used for short-term treatment with the aim of achieving rapid and temporary clinical improvement. Immunoadsorption is a special technique aimed at removing pathogenic anti-AChR antibodies. Biological therapy begins to show better safety and high selectivity compared to classical immunosuppressive drugs. Eculizumab is the first drug for MG approved by the US Food and Drug Administration (FDA) in 2017. Zilucoplan is a complement inhibitor used for treatment of the generalized form of MG with anti-AChR positive antibodies. Efgartigimod alfa has mild to moderate side effects, it is relatively well tolerated. Preclinical studies show that CAAR-T cells can selectively suppress B lymphocytes by expressing anti-MuSK antibodies without difficulty. Despite the good results, caution remains. Circulating miRNA molecules can play an important role in personalized treatment
Therapeutic approach to conduct disorders in adolescents
No full textPoremećaji ponašanja najčešće se pojavljuju za vrijeme adolescencije, a karakterizirani su ponavljajućim obrascima disocijalnog, agresivnog i prkosnog ponašanja kojima se krše prava drugih ljudi, društvene norme i pravila. Prvi izbor u terapiji poremećaja ponašanja su psihosocijalne intervencije koje osim individualnog rada s adolescentom zahtijevaju i uključivanje obitelji i obiteljskog okruženja. Dokazano učinkovite psihosocijalne intervencije u terapiji poremećaja ponašanja u adolescenata su: Obuka roditeljskog upravljanja, Pozitivni roditeljski program, Funkcionalna obiteljska terapija, Kratka strateška obiteljska terapija, Multisistematska terapija, Multidimenzionalna skrb u udomiteljstvu, Igra lijepog ponašanja i tretmani utemeljeni na kognitivnom pristupu. Cilj terapije je educirati i pomoći roditeljima u roditeljskoj ulozi, razviti prosocijalne obrasce ponašanja u mladih, naučiti ih kako se nositi sa stresom, povećati toleranciju na frustraciju, poboljšati komunikacijske vještine i razviti empatiju. Pregledom literature na ovu temu može se zaključiti da nema dovoljno istraživanja o dugoročnim pozitivnim učincima opisanih tretmana i da nisu dovoljno istražene varijable koje predviđaju, utječu ili objašnjavaju učinkovitost pojedinih psihosocijalnih tretmana.
U terapijskom pristupu poremećajima ponašanja koristi se i farmakoterapija no ne kao prvi ili jedini terapijski modalitet. Lijekovima se najčešće želi umanjiti agresivnost i razdražljivost jer navedeni simptomi često otežavaju primjenu psihosocijalnih intervencija. Istraživanja o farmakoterapiji poremećaja ponašanja su također malobrojna.Conduct disorders most commonly appear during adolescence, characterized by recurring patterns of dissocial, aggressive, and defiant behaviors that violate the rights of others, societal norms, and rules. The primary treatment for conduct disorders includes psychosocial interventions, which require involvement not only with the adolescent but also with their family and familial environment. Proven effective psychosocial interventions in the treatment of adolescent behavioral disorders include: Parent Management Training, Positive Parenting Program, Functional Family Therapy, Brief Strategic Family Therapy, Multisystemic Therapy, Multidimensional Foster Care, Good Behavior Game, and cognitive-based treatments. The goal of therapy is to educate and assist parents in their parenting roles, develop prosocial behavior patterns in youth, teach coping skills for stress, increase frustration tolerance, improve communication skills, and foster empathy. A review of the literature on this topic concludes that there is insufficient research on the long-term positive effects of these treatments and inadequate exploration of variables predicting, influencing, or explaining the effectiveness of individual psychosocial treatments. In the therapeutic approach to conduct disorders, pharmacotherapy is also used but not as the first or only therapeutic modality. Medications are primarily aimed at reducing aggression and irritability, as these symptoms often hinder the application of psychosocial interventions. Research on pharmacotherapy for conduct disorders is also scarce
ENDOCRINOLOGICAL CHARACTERISTICS OF PRADER WILLI SYNDROME
No full textPWS složen je genetski poremećaj uzrokovan gubitkom funkcije očinskih gena na kromosomu 15q11-q13, što dovodi do disfunkcije hipotalamusa. Ovaj pregledni rad prikazuje endokrinološke osobitosti povezane s PWS-om, usredotočujući se na višestruku hormonsku neravnotežu i njihove kliničke manifestacije. Ključni endokrini problemi uključuju nedostatak hormona rasta, hipogonadizam, hipotireozu, hiperfagiju, pretilost, inzulinsku rezistenciju i INŽ. Nedostatak HR pridonosi niskom rastu, smanjenoj mišićnoj masi i povećanoj adipoznosti, dok hipogonadizam rezultira odgođenim ili nepotpunim pubertetom i neplodnošću. Hipotireoza pogoršava metaboličke izazove, a hiperfagija uzrokuje ozbiljnu pretilost, zahtijevajući stroge strategije liječenja. Inzulinska rezistencija povećava rizik od ŠB2, a adrenalna insuficijencija, iako rijetka, predstavlja dodatne zdravstvene rizike. Ovim radom želi se naglasiti ključna uloga rane dijagnoze i sveobuhvatnog, multidisciplinarnog liječenja u optimiziranju rasta, razvoja i metaboličkog zdravlja kod osoba s PWS-om.PWS is a complex genetic disorder caused by the loss of function of paternal genes on chromosome 15q11-q13, leading to profound hypothalamic dysfunction. This overview thesis examines the endocrinological peculiarities associated with PWS, focusing on the multifaceted hormonal imbalances and their clinical manifestations. Key endocrine issues include growth hormone deficiency, hypogonadism, hypothyroidism, hyperphagia, obesity, insulin resistance, and adrenal insufficiency. Growth hormone deficiency contributes to short stature, reduced muscle mass, and increased adiposity, while hypogonadism results in delayed or incomplete puberty and infertility. Hypothyroidism exacerbates metabolic challenges, and hyperphagia drives severe obesity, necessitating stringent management strategies. Insulin resistance heightens the risk of type 2 diabetes, and adrenal insufficiency, though less common, poses additional health risks. This thesis underscores the critical role of early diagnosis and comprehensive, multidisciplinary management in optimizing growth, development, and metabolic health in individuals with PWS
Dexamethasone treatment for COVID-19 is related to increased mortality in hematologic malignancy patients: results from the EPICOVIDEHA Registry
No full textEarly Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience
No full textBackground: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative disease that generally appears in children between 2 and 4 years old, leading to seizures and a progressive loss of language and motor functions. As the disease progresses, affected individuals typically experience blindness and ultimately pass away in late childhood. Treatment with intracerebroventricular cerliponase alfa has been shown to slow the deterioration of motor and language functions compared to the natural progression of the disease. We aim to highlight the early symptoms of CLN2 which help with early diagnosis and timely treatment initiation in children with specific medical indications, as well as identify medical contraindications for enzyme replacement therapy. Methods: We describe five Croatian patients and one Bosnia and Herzegovinian patient with CLN2 disease, analyzing the clinical characteristics, neuroimaging findings, electroencephalogram results, genetic analysis, treatment indications and contraindications, and disease progression. Results: All six patients presented with seizures: focal seizures (n = 1), myoclonic–atonic seizures (n = 1), febrile seizures (n = 2), and tonic–clonic seizures (n = 2), along with language delay (n = 6). Despite this, one patient refused treatment, two were initially included in the clinical trial and then continued treatment, one did not indicate starting treatment, and three continued treatment. One patient, after 4.5 years of treatment, no longer had medical indications for the therapy, which was discontinued. The other two patients who received treatment had a significant slowing of disease progression. Conclusions: The early onset of seizures between ages 2 and 4, alongside delayed language development, is a defining characteristic of CLN2 disease. Enzyme replacement therapy using cerliponase alfa represents the initial treatment for neuronal ceroid lipofuscinosis type 2, targeting the underlying cause of the disease. It effectively delays the progression of language and motor decline in patients diagnosed with this condition
Joint Inflammation Correlates with Joint GPR30 Expression in Males and Hippocampal GPR30 Expression in Females in a Rat Model of Rheumatoid Arthritis
No full textIt is not entirely clear how the interaction between joint inflammation and the central nervous system (CNS) response in rheumatoid arthritis (RA) works, and what pathophysiology underlies the sex differences in coexisting neuropsychiatric comorbidities. It is known that estrogen hormones reduce inflammation in RA and that this occurs mainly via the stimulation of G protein-coupled receptor-30 (GPR30), also known as G protein-coupled estrogen receptor (GPER) 1. However, changes in GPR30 expression and sex differences induced by local and systemic inflammation in RA are not yet known. Our aim was to reveal sex differences in the expression and association of joint GPR30 with local and systemic inflammation, clinical course and furthermore with hippocampal GPR30 expression during pristane-induced arthritis (PIA) in Dark Agouti (DA) rats, an animal model of RA. Furthermore, we demonstrated sex-specific differences in the association between joint and systemic inflammation and hippocampal microglia during PIA. Our results suggest sex-specific differences not only in the clinical course and serum levels of pro-inflammatory cytokines but also in the expression of GPR30. Female rats show greater synovial inflammation and greater damage to the articular cartilage compared to males during PIA attack. Male rats express higher levels of synovial and cartilaginous GPR30 than females during PIA, which correlates with a less severe clinical course. The correlation between synovial and cartilaginous GPR30 and joint inflammation scores (Krenn and Mankin) in male rats suggests that the more severe the joint inflammation, the higher the GPR30 expression. At the same time, there is no particular upregulation of hippocampal GPR30 in males. On the other hand, female rats express higher levels of neuroprotective GPR30 in the hippocampus than male rats at the basic level and during PIA attack. In addition, females have a higher number of Iba-1+ cells in the hippocampus during PIA attack that strongly correlates with the clinical score, serum levels of IL-17A, and Krenn and Mankin scores. These results suggest that male rats are better protected from inflammation in the joints and female rats are better protected from the inflammation in the hippocampus during a PIA attack, independently of microglia proliferation. However, in the remission phase, synovial GPR30 expression suddenly increases in female rats, as does hippocampal GPR30 expression in males. Further experiments with a longer remission period are needed to investigate the molecular background of these sex differences, as well as microglia phenotype profiling
The Role of Biomarkers in HPV-Positive Head and Neck Squamous Cell Carcinoma: Towards Precision Medicine
No full textHead and neck cancer (HNC) represents a significant global health challenge, with squamous cell carcinomas (SCCs) accounting for approximately 90% of all HNC cases. These malignancies, collectively referred to as head and neck squamous cell carcinoma (HNSCC), originate from the mucosal epithelium lining the larynx, pharynx, and oral cavity. The primary risk factors associated with HNSCC in economically disadvantaged nations have been chronic alcohol consumption and tobacco use. However, in more affluent countries, the landscape of HNSCC has shifted with the identification of human papillomavirus (HPV) infection, particularly HPV-16, as a major risk factor, especially among nonsmokers. Understanding the evolving risk factors and the distinct biological behaviors of HPV-positive and HPV-negative HNSCC is critical for developing targeted treatment strategies and improving patient outcomes in this complex and diverse group of cancers. Accurate diagnosis of HPV-positive HNSCC is essential for developing a comprehensive model that integrates the molecular characteristics, immune microenvironment, and clinical outcomes. The aim of this comprehensive review was to summarize the current knowledge and advances in the identification of DNA, RNA, and protein biomarkers in bodily fluids and tissues that have introduced new possibilities for minimally or non-invasive cancer diagnosis, monitoring, and assessment of therapeutic responses