BACKGROUND: The current requirement is to establish the preoperative diagnosis accurately as possible and to achieve an adequate extent of surgery. The aim of this study was to define the preoperative clinical and molecular genetic risks of malignancy in indeterminate thyroid nodules (Bethesda III and IV) and to determine their impact on the surgical strategy. METHODS: Prospectively retrospective analysis of 287 patients provided the basis of preoperative laboratory examination, sonographic stratification of malignancy risks and cytological findings. Molecular tests focused on pathogenic variants of genes associated with thyroid oncogenesis in cytologically indeterminate nodules (Bethesda III and IV). The evaluation included clinical risk factors: positive family history, radiation exposure and growth in size and/or number of nodules. RESULTS: Preoperative FNAB detected 52 cytologically indeterminate nodules (28.7%) out of 181 patients. Postoperative histopathological examination revealed malignancy in 12 cases (23.7%) and there was no significant difference between Bethesda III and IV categories (P=0.517). Clinical risk factors for malignancy were found in 32 patients (61.5%) and the presence of at least one of them resulted in a clearly higher incidence of malignancy than their absence (31.3% vs. 10.0%, respectively). Pathogenic variants of genes were detected in 12/49 patients in Bethesda III and IV, and in 4 cases (33.3%) thyroid carcinoma was revealed. The rate of malignancies was substantially higher in patients with pathogenic variants than in those without (33.3% vs. 16.2%, respectively). CONCLUSIONS: Our experience implies that molecular genetic testing is one of several decision factors. We will continue to monitor and enlarge our patient cohort to obtain long-term follow-up data.

• MeSH
• Adult MeSH
• Genetic Testing MeSH
• Middle Aged MeSH
• Humans MeSH
• Thyroid Neoplasms * genetics   MeSH
• Retrospective Studies MeSH
• Risk Factors MeSH
• Aged MeSH
• Biopsy, Fine-Needle MeSH
• Thyroid Nodule * genetics   pathology   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

OBJECTIVE AND BACKGROUND: The 10-item Edinburgh Postnatal Depression Scale (EPDS) is a widely-used screening measure for postnatal depression. Factor analysis studies have suggested an embedded sub-scale could be used for screening for anxiety disorders. The current investigation sought to replicate and extend a recent study supporting this assertion. METHODS: A cross-sectional design. EPDS data were collected at up to two years postpartum. Confirmatory factor analysis, correlational and distributional characteristics of the measure were examined. Participants were a large sample (N = 985) of postpartum women in the Czech Republic. RESULTS: Factor structure findings substantially replicated the models evaluated by Della Vedova et al. (2022). Bifactor models, however, offered a better fit to data. A general factor of depression explained most of the variance in data in most models compared to embedded sub-scales across models. CONCLUSION: The model proposed by Della Vedova et al. (2022) offered an excellent fit to data. However, the findings from the bifactor modelling suggest the dominance of a general factor of depression which indicates the potential application of an embedded anxiety sub-scale for screening may be overstated.

• MeSH
• Adult MeSH
• Factor Analysis, Statistical MeSH
• Humans MeSH
• Young Adult MeSH
• Depression, Postpartum * diagnosis   psychology   MeSH
• Cross-Sectional Studies MeSH
• Psychiatric Status Rating Scales * standards   MeSH
• Psychometrics MeSH
• Reproducibility of Results MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Young Adult MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Czech Republic MeSH

PURPOSE: Genetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic testing algorithm for similar populations. METHODS: Among 280 SS referrals from 2018-2020, 64 children met inclusion criteria (from consanguineous families; height ≤ -2.25 SD), 51 provided informed consent (30 females; 31 syndromic SS) and underwent investigation, primarily via exome sequencing. Prioritized variants were evaluated by the American College of Medical Genetics and Genomics standards. A comparative analysis was conducted by juxtaposing our findings against published gene panels for SS. RESULTS: A genetic cause of SS was elucidated in 31 of 51 (61%) participants. Pathogenic variants were found in genes involved in the GH-IGF-1 axis (GHR and SOX3), thyroid axis (TSHR), growth plate (CTSK, COL1A2, COL10A1, DYM, FN1, LTBP3, MMP13, NPR2, and SHOX), signal transduction (PTPN11), DNA/RNA replication (DNAJC21, GZF1, and LIG4), cytoskeletal structure (CCDC8, FLNA, and PCNT), transmembrane transport (SLC34A3 and SLC7A7), enzyme coding (CYP27B1, GALNS, and GNPTG), and ciliogenesis (CFAP410). Two additional participants had Silver-Russell syndrome and 1 had del22q.11.21. Syndromic SS was predictive in identifying a monogenic condition. Using a gene panel would yield positive results in only 10% to 33% of cases. CONCLUSION: A tailored testing strategy is essential to increase diagnostic yield in children with SS from consanguineous populations.

• MeSH
• Algorithms MeSH
• Child MeSH
• Genetic Testing * methods   MeSH
• Humans MeSH
• Adolescent MeSH
• Mutation genetics   MeSH
• Dwarfism genetics   diagnosis   MeSH
• Consanguinity * MeSH
• Growth Disorders genetics   diagnosis   MeSH
• Child, Preschool MeSH
• Pedigree MeSH
• Exome Sequencing methods   MeSH
• Body Height genetics   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Iraq MeSH

OBJECTIVES: To determine the safety and oncological advantages of en bloc resection of bladder tumour (ERBT) vs conventional transurethral resection of bladder tumour (cTURBT) in terms of resection quality, staging quality, and safety. PATIENTS AND METHODS: We conducted a single-blinded randomised controlled trial at seven European hospitals with the following inclusion criteria: first diagnosis of non-muscle-invasive bladder cancer, no singular carcinoma in situ, and tumour size >4.3 mm. Patients were randomised intraoperatively in a 1:1 ratio to either the ERBT or cTURBT group. Outcome analysis was performed using the chi-square test, t-test, and multivariate regression analysis. RESULTS: A total of 97 patients were randomised into the study (cTURBT = 40, ERBT = 57). A switch to cTURBT was necessary in two patients (3.5%) and 11.5% of the screened patients were preoperatively excluded for ERBT. There was no difference in the specimen presence of detrusor muscle with 73.7% in cTURBT and 67.3% in ERBT specimens (P = 0.69). There were no significant differences in mean operative time (ERBT 27.6 vs cTURBT 25.4 min, P = 0.450) or mean resection time (ERBT 16.3 vs cTURBT 15.5 min, P = 0.732). Overall the complication rate did not differ significantly (ERBT 18.2% vs cTURBT 7.5%, P = 0.142). Bladder perforations occurred significantly more often in the ERBT group (ERBT seven vs cTURBT none, P = 0.020). R0 status was reported more often after ERBT, whilst a second resection was significantly less frequent after ERBT (P = 0.018). Recurrence rates were comparable for both techniques after 6 months of follow-up. CONCLUSION: The feasibility of ERBT is higher than previously reported. Whereas other perioperative and safety parameters are comparable to cTURBT, bladder perforations occurred significantly more often in the ERBT group and raised safety concerns. This is why this trial was terminated.

• MeSH
• Cystectomy * methods   adverse effects   MeSH
• Single-Blind Method MeSH
• Carcinoma, Transitional Cell surgery   pathology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Urinary Bladder Neoplasms * surgery   pathology   MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Transurethral Resection of Bladder MeSH
• Treatment Outcome MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Randomized Controlled Trial MeSH
• Comparative Study MeSH

The present study has undertaken the isolation of marine yeasts from mangrove sediment samples and their ability to produce alkaline protease enzymes. A total of 14 yeast isolates were recovered on yeast-malt agar (YMA) and yeast extract peptone dextrose (YEPD) agar medium. After screening for proteolytic activity on skim milk agar, marine yeast isolate, AKB-1 exhibited a hydrolysis zone of 18 mm. Optimal conditions for the enzyme production from yeast isolate AKB-1 were at 30 °C, pH 8, fructose as carbon source, potassium nitrate as nitrogen source, and 25% saline concentration. Under the optimal conditions, the protease enzyme activity of the isolate AKB-1 was observed to be 978 IU/mL. The structural and functional analysis was carried out through FTIR and HPLC analysis for the extracted protease enzyme. Furthermore, the enzyme produced was partially purified by solvent extraction using ethyl acetate and ammonium sulfate precipitation (3.4-fold) followed by dialysis (56.8-fold). The molecular weight of the purified enzyme was observed to be around 60 kDa using SDS-PAGE. The extracted protein showed good antibacterial activity against six different clinical bacterial pathogens and the highest against Bacillus cereus (16 ± 0.5 mm). The extracted protease enzyme was revealed to remove blood stains from cloth within 20 min of application similar to the commercial detergent. The marine yeast isolate was further identified as Candida orthopsilosis AKB-1 (Accession number KY348766) through 18S rRNA sequencing, and a phylogenetic tree was generated.

• MeSH
• Anti-Bacterial Agents pharmacology   metabolism   chemistry   isolation & purification   MeSH
• Bacillus cereus drug effects   MeSH
• Bacterial Proteins * chemistry   pharmacology   metabolism   isolation & purification   MeSH
• Candida * enzymology   isolation & purification   genetics   classification   MeSH
• Endopeptidases * chemistry   metabolism   isolation & purification   pharmacology   MeSH
• Phylogeny MeSH
• Geologic Sediments microbiology   MeSH
• Hydrogen-Ion Concentration MeSH
• Culture Media chemistry   MeSH
• Microbial Sensitivity Tests MeSH
• Molecular Weight MeSH
• Enzyme Stability MeSH
• Temperature MeSH
• Publication type
• Journal Article MeSH

INTRODUCTION: Despite national guidelines and use of intrapartum antibiotic prophylaxis (IAP), Streptococcus agalactiae (group B streptococci (GBS)) is still a leading cause of morbidity and mortality in newborns in Europe and the United States. The European DEVANI (Design of a Vaccine Against Neonatal Infections) program assessed the neonatal GBS infection burden in Europe, the clinical characteristics of colonized women and microbiological data of GBS strains in colonized women and their infants with early-onset disease (EOD). METHODS: Overall, 1083 pregnant women with a GBS-positive culture result from eight European countries were included in the study. Clinical obstetrical information was collected by a standardized questionnaire. GBS strains were characterized by serological and molecular methods. RESULTS: Among GBS carriers included in this study after testing positive for GBS by vaginal or recto-vaginal sampling, 13.4% had at least one additional obstetrical risk factor for EOD. The five most common capsular types (i.e., Ia, Ib, II, III and V) comprised ~ 93% of GBS carried. Of the colonized women, 77.8% received any IAP, and in 49.5% the IAP was considered appropriate. In our cohort, nine neonates presented with GBS early-onset disease (EOD) with significant regional heterogeneity. CONCLUSIONS: Screening methods and IAP rates need to be harmonized across Europe in order to reduce the rates of EOD. The epidemiological data from eight different European countries provides important information for the development of a successful GBS vaccine.

• MeSH
• Antibiotic Prophylaxis MeSH
• Adult MeSH
• Pregnancy Complications, Infectious * epidemiology   microbiology   MeSH
• Humans MeSH
• Young Adult MeSH
• Infant, Newborn MeSH
• Carrier State epidemiology   microbiology   MeSH
• Streptococcus agalactiae * isolation & purification   classification   MeSH
• Streptococcal Infections * epidemiology   microbiology   prevention & control   MeSH
• Pregnancy MeSH
• Vagina microbiology   MeSH
• Infectious Disease Transmission, Vertical statistics & numerical data   prevention & control   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Young Adult MeSH
• Infant, Newborn MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Geographicals
• Europe MeSH

In this study, lactic acid bacteria (LAB) isolation from fermented foods and molecular identification using magnetic bead technology were performed. And then exopolysaccharide (EPS) production possibility was tested in agar medium, and the positive ones were selected for the next step. The bacteria that could produce higher carbohydrate level were grown in MRS medium fortified with whey and pumpkin waste. In our study, 19 different LAB species were identified from fermented products collected from different places in Hatay (Türkiye) province. In molecular identification, universal primer pairs, p806R/p8FPL, and PEU7/DG74 were used for PCR amplification. After that, PCR products purified using paramagnetic bead technology were sequenced by the Sanger sequencing method. The dominant species, 23.8% of the isolates, were identified as Lactiplantibacillus plantarum. As a technological property of LAB, exopolysaccharide production capability of forty-two LAB isolate was tested in agar medium, and after eleven isolates were selected as positive. Two LAB (Latilactobacillus curvatus SHA2-3B and Loigolactobacillus coryniformis SHA6-3B) had higher EPS production capability when they were grown in MRS broth fortified with pumpkin waste and whey. The highest EPS content (1750 mg/L glucose equivalent) was determined in Loigolactobacillus coryniformis SHA6-3B grown in MRS broth fortified with 10% pumpkin waste. Besides the produced EPS samples were validated with FTIR and SEM methods.

• MeSH
• Polysaccharides, Bacterial * biosynthesis   metabolism   MeSH
• Cucurbita microbiology   MeSH
• Fermentation MeSH
• Fermented Foods * microbiology   MeSH
• Phylogeny MeSH
• Culture Media chemistry   MeSH
• Lactobacillales * isolation & purification   classification   genetics   metabolism   MeSH
• Waste Products * analysis   MeSH
• Food Microbiology * MeSH
• RNA, Ribosomal, 16S genetics   MeSH
• Whey MeSH
• Publication type
• Journal Article MeSH

BACKGROUND AND OBJECTIVE: While prostate cancer (PCa) incidence and mortality rates continue to rise, early detection of PCa remains highly controversial, and the research landscape is rapidly evolving. Existing systematic reviews (SRs) and meta-analyses (MAs) provide valuable insights, but often focus on single aspects of early detection, hindering a comprehensive understanding of the topic. We aim to fill this gap by providing a comprehensive SR of contemporary SRs covering different aspects of early detection of PCa in the European Union (EU) and the UK. METHODS: On June 1, 2023, we searched four databases (Medline ALL via Ovid, Embase, Web of Science, and Cochrane Central Register of Controlled Trials) and Google Scholar. To avoid repetition of previous studies, only SRs (qualitative, quantitative, and/or MAs) were considered eligible. In the data, common themes were identified to present the evidence systematically. KEY FINDINGS AND LIMITATIONS: We identified 1358 citations, resulting in 26 SRs eligible for inclusion. Six themes were identified: (1) invitation: men at general risk should be invited at >50 yr of age, and testing should be discontinued at >70 yr or with <10 yr of life expectancy; (2) decision-making: most health authorities discourage population-based screening and instead recommend a shared decision-making (SDM) approach, but implementation of SDM in clinical practice varies widely; decision aids help men make more informed and value-consistent screening decisions and decrease men's intention to attempt screening, but these do not affect screening uptake; (3) acceptance: facilitators for men considering screening include social prompting by partners and clinician recommendations, while barriers include a lack of knowledge, low-risk perception, and masculinity attributes; (4) screening test and algorithm: prostate-specific antigen-based screening reduces PCa-specific mortality and metastatic disease in men aged 55-69 yr at randomisation if screened at least twice; (5) harms and benefits: these benefits come at the cost of unnecessary biopsies, overdiagnosis, and subsequent overtreatment; and (6) future of screening: risk-adapted screening including (prebiopsy) risk calculators, magnetic resonance imaging, and blood- and urine-based biomarkers could reduce these harms. To enable a comprehensive overview, we focused on SRs. These do not include the most recent prospective studies, which were therefore incorporated in the discussion. CONCLUSIONS AND CLINICAL IMPLICATIONS: By identifying consistent and conflicting evidence, this review highlights the evidence-based foundations that can be built upon, as well as areas requiring further research and improvement to reduce the burden of PCa in the EU and UK. PATIENT SUMMARY: This review of 26 reviews covers various aspects of prostate cancer screening such as invitation, decision-making, screening tests, harms, and benefits. This review provides insights into existing evidence, highlighting the areas of consensus and discrepancies, to guide future research and improve prostate cancer screening strategies in Europe.

• MeSH
• Early Detection of Cancer * MeSH
• European Union * MeSH
• Humans MeSH
• Prostatic Neoplasms * diagnosis   MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Review MeSH
• Geographicals
• United Kingdom MeSH

Farmakogenetické (PGx) vyšetření představuje slibný nástroj pro optimalizaci psychiatrické farmakoterapie. Svým potenciálem může přispět ke zvýšení její účinnosti a snížení rizika vzniku nežádoucích účinků. Ekonomická limitace v podobě vyšší ceny vyšetření vyžaduje cílenější výběr pacientů, tento přístup však v praxi zatím chybí. Za tím účelem byl klinickými farmaceutkami v Psychiatrické nemocnici Bohnice vyvinut skórovací systém CYPRI (CYP pharmacogenetic risk score) identifikující pacienty, kteří by mohli mít z PGx vyšetření největší prospěch. Cílem pilotní studie bylo pak zhodnotit účinnost a efektivitu skórovacího systému CYPRI při výběru pacientů pro PGx vyšetření v kontextu následně uskutečněných a klinicky významných změn v jejich medikaci. Do pilotní studie, která probíhala mezi lednem 2024 a březnem 2025, bylo zařazeno 23 pacientů (průměrný věk 38 let, 74 % mužů). Vzorek zahrnoval hospitalizované pacienty s širokým spektrem psychiatrických diagnóz, včetně schizofrenie, bipolární a schizoafektivní poruchy, deprese i úzkostných poruch. Pacienti, u kterých bylo PGx indikováno lékařem a/nebo klinickým farmaceutem a kteří v CYPRI skórovali alespoň jedním bodem, podstoupili po souhlasu PGx vyšetření. Následně u nich byla provedena analýza dopadu výsledku tohoto vyšetření na úpravy v medikaci. Byla zjištěna statisticky významná korelace (t = 2,733; p = 0,0063) mezi hodnotami CYPRI skóre a následnými klinicky významnými změnami v medikaci. Pacienti s vysokým CYPRI skóre (> 3) také vyžadovali statisticky významně více úprav medikace a monitorace než pacienti s nízkým skóre (≤ 3) (p < 0,05). Tyto výsledky potvrzují, že CYPRI skóre by mohlo v budoucnu sloužit jako strukturovaný a nákladově efektivní nástroj pro výběr vhodných kandidátů na PGx vyšetření, zejména v oboru psychiatrie. Širší použití CYPRI skóre v praxi prozatím limituje, i přes slibné výsledky z pilotní studie, relativně malá velikost vzorku. Pro potvrzení těchto výstupů je zapotřebí další výzkum na větších kohortách.

Pharmacogenetic (PGx) testing is a promising tool for optimizing psychiatric pharmacotherapy by improving its effectiveness and reducing the risk of adverse effects. However, its higher cost necessitates a more selective approach to patient screening, which is currently lacking in clinical practice. To address this gap, clinical pharmacists at Bohnice Psychiatric Hospital developed a CYPRI (CYP Pharmacogenetic Risk Score) scoring system to identify patients who would benefit the most from PGx testing. This pilot study aimed to assess the effectiveness and efficiency of the CYPRI scoring system in selecting patients for PGx testing, focusing on clinically significant medication adjustments that followed. Our study was conducted from January 2024 to March 2025 and included 23 hospitalized patients (mean age: 38 years; 74% male) with a range of psychiatric diagnoses, including schizophrenia, bipolar disorder, schizoaffective disorder, depression, and anxiety disorders. Pharmacogenetic testing was offered to patients following an initial indication by a psychiatrist and/or clinical pharmacist, provided they scored at least one point on the CYPRI scale. Upon providing an informed consent, they underwent the PGx testing. The resulting impact on medication adjustments was analyzed. A statistically significant correlation was found between the CYPRI scores and clinically significant medication changes (t = 2.733; p = 0.0063). Additionally, patients with high CYPRI scores (> 3) required significantly more medication adjustments and monitoring than those with low scores (≤ 3) (p < 0.05). These findings suggest that the CYPRI score could serve as a structured and cost-effective tool for identifying suitable candidates for PGx testing, especially in psychiatry. Despite these promising results, the relatively small sample size remains a limitation for the broader implementation of the CYPRI score. Further research with larger cohorts is needed to validate these findings.

Prevalence diabetu mellitu neustále stoupá. Je proto nezbytné se zaměřit na časnou diagnostiku jak diabetu, tak prediabetu. Mezi základní diagnostické metody užívané v České republice patří stanovení lačné glykemie a orální glukózový toleranční test. Jako alternativní metodu lze pro diagnostiku využít glykovaný hemoglobin. Práci shrnujeme současné diagnostické možnosti, jejich výhody a nevýhody a podrobně hodnotíme možnost využití glykovaného hemoglobinu. Hlavní nevýhodou glykovaného hemoglobinu je nižší senzitivita jak v rámci diagnostiky diabetu, tak prediabetu. Velkou výhodou ale je možnost provedení vyšetření bez předchozího lačnění a příprav pacienta.

Krollová P, Frühaufová A, Urbanová J, Lustigová M, Koželuhová M, Michalec J, Duong TA, Brož J. Current recommendations for screening and diagnosis of diabetes mellitus and prediabetes – the importance of glycated haemoglobin The prevalence of diabetes mellitus is steadily increasing. It is essential to focus on early diagnosis of both diabetes and prediabetes. The basic diagnostic methods used in the Czech Republic include the fasting glycaemia test and the oral glucose tolerance test. As an alternative method, glycated haemoglobin can be used for diagnosis. In this review, we summarize the current diagnostic options, their advantages and disadvantages and evaluate in detail the possibility of using glycated haemoglobin. The main disadvantage of glycated hemoglobin is its lower sensitivity in the diagnosis of both diabetes and prediabetes. However, the major advantage is the possibility of performing the test without prior fasting and preparation of the patient.