Environmental effects on changes in gene expression

Posljednjih 10 do 15 godina ubrzani razvoj novih spoznaja u genetici ukazao je na potpuno nove mehanizme nastanka pojedinih bolesti, a posebno razvoja pojedinih kliničkih fenotipova. Promjene u epigenetskome profilu stanice mogu biti pozitivne i pogodovati izražavanju povoljnih gena, kao što su geni koji sudjeluju u staničnoj signalizaciji i suzbijanju onkogeneze. Međutim, promjene također mogu biti štetne i mijenjati funkcije važnih gena, što dovodi do bolesti. Nedavno je dokazano da se neki epigenetski biljezi mogu zadržavati tijekom mejoze i tako prenositi transgeneracijski. Najveći broj publiciranih radova odnosi se na mehanizme autoimunosti i karcinogenezu, no u zadnjih pet godina pojavljuju se i radovi koji se bave fenomenom međureakcije čimbenika okoliša i ekspresije bolesti za brojna druga stanja. U radu su analizirane dosadašnje spoznaje te njihov klinički značaj.In the last 10-15 years the rapid development of new knowledge in genetics pointed out entirely new mechanisms of development of certain diseases, in particular the development of some clinical phenotypes. Changes in the epigenetic profile of a cell can be positive and favor the expression of advantageus genes such as those linked to cell signaling and tumor suppression. However, they can also be detrimental and alter the functions of important genes, thereby leading to disease. Recent evidence has further highlighted that some epigenetic marks can be maintained across meiosis and be transmitted to the subsequent generation to reprogram developmental and cellular features. The largest number of published works refers to the mechanisms of carcinogenesis and autoimmunity, but in the last five years, there are also works that deal with the phenomenon of interplay of environmental factors and the expression of the disease for many other conditions. The article analyzes recent findings and their clinical significance

Clinical Characteristics and Predictors Affecting the Probability of Complications and Negative Outcome in Hospitalized Patients with Influenza

Cilj: Istraživanju je glavni cilj ispitati kliničke karakteristike u odnosu na dob i komplikacije te pronaći prediktore koji utječu na vjerojatnost pojave komplikacija i negativnog ishoda u hospitaliziranih bolesnika s influencom. Ispitanici i metode: Istraživanjem su obuhvaćeni svi hospitalizirani bolesnici s klinički i/ili laboratorijski dokazanom gripom u Klinici za infektologiju Kliničkog bolničkog centra Osijek u razdoblju od prosinca 2018. do travnja 2019. godine. Istraživanje je provedeno nad 128 ispitanika. Iz povijesti bolesti prikupljeni su i analizirani klinički, demografski, mikrobiološki, radiološki, biokemijski i hematološki podatci. Rezultati: Istraživanjem koje je provedeno, pokazano je kako je starija životna dob povezana s težim oblikom kliničke slike gripe i kompliciranim tijekom bolesti. Kao prediktor negativnog ishoda korisnom se pokazala urea s vrijednosti većom od 9,2 mmol/L te dob veća od 78 godina, a kao prediktori prisutnosti pneumonije ženski spol i CRP uz točku razlučivanja veću od 128,9 mg/L. Komplikacije su općenito češće u bolesnika s duljim kliničkim tijekom bolesti i višim vrijednostima upalnih pokazatelja pri prijamu na bolničko liječenje. Zaključak: Rezultati provedenog istraživanja upućuju na nedvojbenu težinu kliničke slike, razinu laboratorijskih poremećaja, pojavu komplikacija te utjecaj dobi i komorbiditeta u bolesnika s gripom. Za konačno definiranje specifičnih ranih prediktora težine kliničke slike, u svrhu pravovremenog i učinkovitog liječenja te povoljnijeg ishoda bolesti, potrebno je daljnje sustavno praćenje bolesnika i prospektivne studije.Aim: The main objective of the study is to examine clinical characteristics in relation to age and complications, and to find predictors that affect the likelihood of complications and the negative outcome in hospitalized patients with influenza. Respondents and methods: The study included all hospitalized patients with clinically and/or laboratory-proven influenza at the Clinic for Infectious Diseases of the Clinical Hospital Center Osijek in the period from December 2018 to April 2019. The survey was conducted on 128 respondents. Clinical, demographic, microbiological, radiological, biochemical, and hematological data were collected and analyzed from the History of the disease. Results: Research has shown that higher age is associated with a more severe form of the clinical picture of influenza and a complicated course of the disease. Urea with a value of more than 9.2 mmol / L and an age higher than 78 years proved to be useful as predictors of the negative outcome, and female sex and CRP with a resolution point of more than 128.9 mg / L as predictors of the presence of pneumonia. Complications are generally more common in patients with a longer clinical course of the disease and higher values of inflammatory parameters when admitted to the hospital. Conclusion: The results of the study indicate the undisputed severity of the clinical picture, the level of laboratory disorders, the occurrence of complications, and the impact of age and comorbidity in patients with influenza. Further systematic monitoring of patients and prospective studies are needed to finally define specific early predictors of the severity of the clinical picture, for the purpose of timely and effective treatment and a more favorable disease outcome

The prevalence of maternal, placental and obstetric pathology in pregnancies and births of very low birth weight infants

Cilj: Ispitati prevalenciju maternalne, placentalne i porođajne patologije u nedonoščadi vrlo male rodne mase. Ispitanici i Metode: Grupu ispitanika čine sve majke čije su trudnoće završile porodom žive nedonoščadi vrlo male rodne mase u Kliničkom bolničkom centru Osijek od 2015. do 2019. godine. Podatci su prikupljeni iz medicinske dokumentacije i bolnič kog informacijskog sustava te obrađeni računalnim programom R, verzija 3.5. Rezultati: Incidencija poroda nedonoščadi vrlo male rodne mase iznosila je 2,8 %. Među majčinim komorbiditetima ističu se hipertenzivni poremećaji (20,6 %), anemija (8,1 %) i hipotireoza (10,3 %). Najučestalija prethodna ginekološka oboljenja majki bili su miomi (3,3 %). Zabilježene majčine infekcije bile su intraamnijske infekcije (26,5 %), urinarne (10,3 %) te nespecificirane infekcije (10,7 %). Neki oblik abrupcije posteljice imalo je 9,9 % majki. Kod nedonoščadi najčešći patološki stav ploda bio je stav zdjelicom (16,5 % slučajeva). U opstetričkih komplikacija najveću prevalenciju imali su prijevremeno prsnuće vodenjaka (37,1 %), mekonijska plodna voda (18,4 %), oligohidramnion (11,4 %) i predstojeća asfiksija (14,3 %). Zaključ ak: Ovom studijom istaknute su učestale komplikacije trudnoća i poroda nedonoščadi vrlo male rodne mase. Izdvajanjem najučestalije patologije, ovom presječnom studijom olakšano je generiranje hipoteze za daljnje prospektivne studije koje bi potencijalno utvrdile uzročno-posljedičnu vezu među istaknutim patološkim stanjima.Objective: To examine the prevalence of maternal, placental and obstetric pathology in very low birth weight infants.Subjects and Methods: The group of respondents consists of all mothers whose pregnancies ended with the birth of live very low birth weight infants at the Clinical Hospital Center Osijek from 2015 to 2019. Data were collected from medical records and the hospital information system and processed by computer program R, very low birth weight version 3.5. Results: The incidence of births of very low birth weight preterm infants was 2.8%. Among maternal comorbidities, hypertensive disorders (20.6%), anemia (8.1%) and hypothyroidism (10.3%) stand out, whereas the most common previous maternal gynecological diseases were fibroids (3.3%). The most present maternal infections were intraamniotic infections (26.5%), urinary tract infections (10.3%), and unspecified infections (10.7%). 9.9% of mothers had some form of placental abruption. In preterm infants, the most common pathological position of the fetus was the pelvic presentation (16.5% of cases). Considering obstetric complications, premature rupture of amniotic fluid (37.1%), meconium amniotic fluid (18.4%), oligohydramnios (11.4%) and impending asphyxia (14.3%) were highly prevalent. Conclusions: This study highlighted the frequent complications of pregnancies that term with birth of very low birth weight infant. By emphasising the most common pathologies, we can facilitate the formulation of the hypothesis for further prospective studies that would potentially establish a causal relationship between these pathological conditions

Environmental effects on changes in gene expression

Posljednjih 10 do 15 godina ubrzani razvoj novih spoznaja u genetici ukazao je na potpuno nove mehanizme nastanka pojedinih bolesti, a posebno razvoja pojedinih kliničkih fenotipova. Promjene u epigenetskome profilu stanice mogu biti pozitivne i pogodovati izražavanju povoljnih gena, kao što su geni koji sudjeluju u staničnoj signalizaciji i suzbijanju onkogeneze. Međutim, promjene također mogu biti štetne i mijenjati funkcije važnih gena, što dovodi do bolesti. Nedavno je dokazano da se neki epigenetski biljezi mogu zadržavati tijekom mejoze i tako prenositi transgeneracijski. Najveći broj publiciranih radova odnosi se na mehanizme autoimunosti i karcinogenezu, no u zadnjih pet godina pojavljuju se i radovi koji se bave fenomenom međureakcije čimbenika okoliša i ekspresije bolesti za brojna druga stanja. U radu su analizirane dosadašnje spoznaje te njihov klinički značaj.In the last 10-15 years the rapid development of new knowledge in genetics pointed out entirely new mechanisms of development of certain diseases, in particular the development of some clinical phenotypes. Changes in the epigenetic profile of a cell can be positive and favor the expression of advantageus genes such as those linked to cell signaling and tumor suppression. However, they can also be detrimental and alter the functions of important genes, thereby leading to disease. Recent evidence has further highlighted that some epigenetic marks can be maintained across meiosis and be transmitted to the subsequent generation to reprogram developmental and cellular features. The largest number of published works refers to the mechanisms of carcinogenesis and autoimmunity, but in the last five years, there are also works that deal with the phenomenon of interplay of environmental factors and the expression of the disease for many other conditions. The article analyzes recent findings and their clinical significance

Aortic and Cerebral Aneurysms: Link With Genetic Predisposition, Risk Factors, and Aortopathies

Routine cardiology practice includes diagnostic algorithms for thoracic aortic aneurysm detection at varying degrees of clinical significance. Standard procedures for evaluation and follow up involve screening for standard atherosclerotic risk factors, including hypertension, dyslipidemia, diabetes mellitus, obesity, smoking history and family history without genetic testing, as well as cardiac imaging techniques, such as echocardiography, computed tomography or magnetic resonance imaging. According to the latest reports, thoracic aortic aneurysms can present concomitantly with intracranial aneurysms, although the exact etiopathogenic mechanisms are not yet known. There is evidence that connects these two conditions with genetic predisposition, risk factors, and aortopathies. Routine practice does not include screening for other aneurysm locations. This review will highlight existing knowledge in this area and the need for further investigations

Syndrome of inappropriate antidiuretic hormone secretion as an adverse reaction of ciprofloxacin: a case report and literature review

Highlights Euvolemic patient with mild hyponatremia during ciprofloxacin treatment was evaluated No diuretic use; hypothyroidism and hypocortisolism were excluded as causes Our findings highlight ciprofloxacin\u27s potential role in inducing Syndrome of inappropriate antidiuretic hormone secretion Antidiuretic hormone (ADH) is secreted by the posterior pituitary gland. Unsuppressed release of ADH leads to hyponatremia. This condition is referred to as syndrome of inappropriate antidiuretic hormone secretion (SIADH). Hereby, a case report is presented on ciprofloxacin-induced SIADH. A 67-year-old male patient was examined in the emergency room with symptoms of lethargy, headache, lack of attention, and a generally depressed mood lasting for three days. One week prior, empirical antimicrobial therapy involving ciprofloxacin for prostatitis was initiated. Laboratory analysis showed no relevant abnormalities except for hyponatremia (Na = 129 mmol/L). Chronic hyponatremia, thyroid dysfunction, and adrenal dysfunction were ruled out. Serum osmolality was 263 mOsmol/kg, urine osmolality was 206 mOsmol/kg, and urine sodium was 39 mmol/L. Given that all criteria for SIADH were met, ciprofloxacin was discontinued, and fluid restriction was advised. Four days later, the patient’s serum sodium concentrations nearly normalized (Na = 135 mmol/L), and all symptoms resolved. The Naranjo Scale yielded a score of 8, supporting the likelihood of a probable adverse reaction to ciprofloxacin. This case is presented to raise awareness among clinicians about the potential of ciprofloxacin to cause even mild hyponatremia