Thiopurine S-methyltransferase (TPMT) is an enzyme that converts thiopurine drugs into inactive metabolites. Over 20 variant TPMT-encoding alleles, which cause reduced enzymatic activity, have been ...discovered so far. Our aim was to investigate the frequencies of variant alleles, i.e. genotypes in inflammatory bowel disease (IBD) patients and healthy individuals and to compare these frequencies with selected world populations. The most common variant alleles TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C were analyzed with polymerase chain reactionbased assays and allele-specific polymerase chain reaction-based assays in 685 participants including 459 IBD patients and 226 healthy volunteers. Study results revealed 434/459 (94.55%) IBD patients and 213/226 (94.25%) healthy subjects to be homozygous for the wild-type allele (TPMT*1/*1). TPMT*1/*2 and TPMT *1/*3C genotypes were found in 4/459 (0.87%) and 7/459 (1.53%) IBD patients, respectively; in healthy volunteers they were not found. TPMT*1/*3A genotype was found in 14/459 (3.05%) IBD patients and 13/226 (5.75%) healthy subjects. Variant genotypes were statistically significantly more common in Crohn’s disease subgroup than in ulcerative colitis subgroup. The prevalence of variant genotypes was 23/338 (6.80%) in Crohn’s disease subgroup as compared with 2/121 (1.65%) in ulcerative colitis subgroup (χ2=4.59; p=0.032). In conclusion, the most frequently occurring nonfunctional TPMT allele in Croatian population is TPMT*3A. The overall frequency of mutant alleles in our population is statistically nonsignificantly lower when compared with other populations of Caucasian origin. The Crohn’s disease group had more mutant alleles than the ulcerative colitis group.
Inflammatory bowel diseases (IBD), including Crohn’s disease and ulcerative colitis, are chronic immune-mediated diseases with a high incidence and prevalence in Europe. Since these are diseases with ...associated disability, they require complex management and the availability of high-quality healthcare resources. We focused on the analysis of IBD care in selected countries of Central and Eastern Europe (Croatia, the Czech Republic, Hungary, Moldova, Poland, Romania and Slovakia) targeting the availability and reimbursement of diagnostic and therapeutic modalities, the role of IBD centers and also education and research in IBD. As part of the analysis, we created a questionnaire of 73 statements organized in three topics: (1) diagnostics, follow-up and screening, (2) medications and (3) IBD centers. The questionnaire was filled out by co-authoring IBD experts from individual countries, and then the answers and comments on the questionnaire were analyzed. We identified that despite the financial burden, which still partially persists in the region, the availability of some of the cost-saving tools (calprotectin test, therapeutic drug monitoring) differs among countries, mainly due to variable reimbursement from country to country. In most participating countries, there also remains a lack of dedicated dietary and psychological counseling, which is often replaced by recommendations offered by gastroenterologists. However, there is adequate availability of most of the currently recommended diagnostic methods and therapies in each participating country, as well as the implementation of established IBD centers in the region.
Uz endoskopske i radiološke metode, osovinu dijagnostike funkcijskih poremećaja jednjaka čini manometrija. Radi se o tradicionalnoj metodi kojom se ispituje funkcijska sposobnost gornjeg i donjeg ...sfinktera te tijela jednjaka. Prateći razvoj informatičke tehnologije, konvencionalna se manometrija tijekom proteklih desetljeća transformirala u manometriju visoke rezolucije. Tehnika visoke rezolucije omogućuje bolju prostornu razlučivost svih segmenata jednjaka, znatno je olakšana inicijalna orijentacija prema svim strukturnim podjedinicama jednjaka te je kraće vrijeme pretrage, što bolesniku uvelike olakšava podnošljivost procedure. Manometrija visoke rezolucije koristi dvije vrste katetera – čvrsti i vodom-perfundirani (silikonski), u koje su ugrađeni multipli senzori koji imaju mogućnost radijalne detekcije signala iz bliskih dijelova tkiva. Današnja tehnologija omogućuje i inkorporaciju impedancijskih senzora u kateter, koji temeljem promjena otpora u tkivu jednjaka detektiraju suptilne promjene u tranzitu bolusa hrane ili tekućine. Funkcijski, odnosno poremećaji motiliteta jednjaka prema definiranim parametrima Chicago klasifikacije kategoriziraju se hijerarhijski u poremećaje s opstrukcijom na razini ezofago-gastričnog spoja, velike poremećaje te male poremećaje peristaltike. Uvođenje ove metode, kao i redovito ažuriranje Chicago klasifikacije, omogućuje značajan napredak u dijagnostici, posljedično i liječenju sve češćih funkcijskih poremećaja jednjaka.
serovar Enteritidis is among the most reported serotypes of
species worldwide, but is rarely reported as the causative agent of a liver abscess.
We present a patient with an abdominal blunt trauma. ...An initial abdominal computed tomography scan revealed a rupture of the right kidney and of the liver. Two days later, his physical state deteriorated and a new computed tomography scan was obtained. An extremely large 8-centimetre liver abscess was verified. Due to the unsatisfying response to antibiotic therapy and percutaneous drainage, we operated on the patient. An appendectomy, cholecystectomy and bisegmental liver resection were performed. An intraoperative swab from the abscess was positive for Salmonella enterica serovar Enteritidis. The patient was given intravenous ciprofloxacine. The post-operative course was complicated by a Coagulase-negative
infection of the wound, which improved with antibiotic therapy.
Blunt abdominal trauma may initiate an unpredictable course of the disease in chronic
carriers.
Thiopurine S-methyltransferase (TPMT) is an enzyme that converts thiopurine drugs into inactive metabolites. Over 20 variant TPMT-encoding alleles, which cause reduced enzymatic activity, have been ...discovered so far. Our aim was to investigate the frequencies of variant alleles, i.e. genotypes in inflammatory bowel disease (IBD) patients and healthy individuals and to compare these frequencies with selected world populations. The most common variant alleles TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C were analyzed with polymerase chain reaction-based assays and allele-specific polymerase chain reaction-based assays in 685 participants including 459 IBD patients and 226 healthy volunteers. Study results revealed 434/459 (94.55%) IBD patients and 213/226 (94.25%) healthy subjects to be homozygous for the wild-type allele (TPMT*1/*1). TPMT*1/*2 and TPMT *1/*3C genotypes were found in 4/459 (0.87%) and 7/459 (1.53%) IBD patients, respectively; in healthy volunteers they were not found. TPMT*1/*3A genotype was found in 14/459 (3.05%) IBD patients and 13/226 (5.75%) healthy subjects. Variant genotypes were statistically significantly more common in Crohn's disease subgroup than in ulcerative colitis subgroup. The prevalence of variant genotypes was 23/338 (6.80%) in Crohn's disease subgroup as compared with 2/121 (1.65%) in ulcerative colitis subgroup (χ2 = 4.59; p = 0.032). In conclusion, the most frequently occurring nonfunctional TPMT allele in Croatian population is TPMT*3A. The overall frequency of mutant alleles in our population is statistically nonsignificantly lower when compared with other populations of Caucasian origin. The Crohn's disease group had more mutant alleles than the ulcerative colitis group.
Cistična fibroza najčešća je nasljedna bolest, koja skraćuje životni vijek, a uzrokuje je defekt u genu za transmembranski regulator provodljivosti cistične fibroze (eng. cystic fibrosis ...transmembrane regulator – CFTR). Poremećena je homeostaza elektrolita, što se očituje simptomima u više organskih sustava. Plućne manifestacije, s kroničnim infekcijama, upalom i, na kraju, respiratornim zatajenjem, ostaju i dalje najvažnija prijetnja životnom vijeku bolesnika. Do prije jednog desetljeća bilo je dostupno samo simptomatsko liječenje. Od 2012. g. dostupno
je liječenje tzv. modulatorima CFTR-proteina i njihovim kombinacijama za osobe s cističnom fibrozom koje nose različite varijante CFTR-gena. Pojavom tih lijekova uvelike se promijenila perspektiva i kvaliteta života ljudi s cističnom fibrozom, ali postavljeni i novi izazovi u vezi s dugoročnim komplikacijama, pitanje eventualnog smanjenja konvencionalnog liječenja, ali i financiranja terapije, koja je mnogim bolesnicima nedostupna. Iznesene su bazične spoznaje o cističnoj fibrozi i funkciji CFTR-proteina, klasifikaciji varijanata CFTR-gena, mogućnostima liječenja CFTR-modulatorima te osnovni ishodi liječenja bolesnika s cističnom fibrozom u Hrvatskoj, gdje se ta terapija primjenjuje od jeseni 2021. godine.
Waist circumference is a good predictor of the risk of heart diseases, but data on the relationship between waist circumference and pulmonary diseases are sparse. The aim of this study was to ...investigate its influence on pulmonary function regarding exercise capacity in moderate and severe chronic obstructive pulmonary disease (COPD), according to Global Initiative for Lung Diseases (GOLD) stages. During 2009, a total of 70 COPD patients aged 33 to 80 years were stratified into GOLD 2 and GOLD 3 stages. Diagnostic separation between COPD severity groups was made upon percentage of predicted forced expiratory volume in 1 second. Anthropometric measures, lung function testing and prognostic scoring systems were assessed. Logistic regression analysis was used to make comparisons while taking into account the possible confounding factors. Waist circumference did not show substantial variations between GOLD 2 and GOLD 3 stages (p > 0.5). There was a weak positive correlation between waist circumference and percent of predicted 6-minute walking distance (r = 0.237; p = 0.001). Another parameter, suprailiac skinfold, was significantly different between GOLD 2 and GOLD 3 stages (19.41 vs. 15.32 mm; p = 0.047). Although waist circumference is a meaningful marker of abdominal obesity, which influences pulmonary function, we failed to prove its importance in correlation with functional lung capacity in a selected COPD population. However, suprailiac skinfold deserves greater attention and further evaluation.
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