Maroš Boďa, Andrej Chyba, Jozef Záhumenský, Petra Pšenková
Prenatal alcohol exposure (PAE), with a global prevalence of approximately 10%, is the most common preventable cause of fetal morbidity, with fetal alcohol syndrome representing its most severe manifestation. The current gold standard for diagnosing PAE relies on self-reported questionnaires; however, underreporting remains a significant limitation. Consequently, there is a need for objective diagnostic methods. Among the most promising biomarkers are ethanol metabolites present in the first stool of newborns (meconium). In this preliminary study, we quantified ethyl glucuronide (EtG) and ethyl sulfate (EtS) in meconium samples and compared the results with self-reported PAE data from questionnaires. The study included 51 pregnant women. A meconium sample was collected from each newborn and analyzed using liquid chromatography-mass spectrometry. All participants were asked to complete a questionnaire regarding alcohol consumption during pregnancy. EtG was detected in 41 samples (80.3%) and EtS was present in all 51 samples (100%). Three of the 51 women did not complete the questionnaire. Of the remaining 48, six (11.7%) reported alcohol consumption during pregnancy. The median concentrations of EtG and EtS were 49.6 ng/g and 13.9 ng/g, respectively. Median levels of both biomarkers were higher among women who reported alcohol use compared to those who denied it. Notably, EtG concentrations exceeding 30 ng/g - previously suggested in the literature as a potential cut off for PAE - were found in 82.35% of women who reported no alcohol use. This study confirms that EtG and EtS are reliable markers of ethanol exposure in meconium. However, we were unable to determine definitive cut off values for PAE based on these biomarkers. Elevated EtG levels in women who denied alcohol consumption may be attributable to alternative sources of ethanol exposure or endogenous ethanol production. The possibility of underreporting PAE also cannot be ruled out.
{"title":"Determination of markers of ethyl alcohol consumption in pregnancy.","authors":"Maroš Boďa, Andrej Chyba, Jozef Záhumenský, Petra Pšenková","doi":"10.48095/cccg2025360","DOIUrl":"https://doi.org/10.48095/cccg2025360","url":null,"abstract":"<p><p>Prenatal alcohol exposure (PAE), with a global prevalence of approximately 10%, is the most common preventable cause of fetal morbidity, with fetal alcohol syndrome representing its most severe manifestation. The current gold standard for diagnosing PAE relies on self-reported questionnaires; however, underreporting remains a significant limitation. Consequently, there is a need for objective diagnostic methods. Among the most promising biomarkers are ethanol metabolites present in the first stool of newborns (meconium). In this preliminary study, we quantified ethyl glucuronide (EtG) and ethyl sulfate (EtS) in meconium samples and compared the results with self-reported PAE data from questionnaires. The study included 51 pregnant women. A meconium sample was collected from each newborn and analyzed using liquid chromatography-mass spectrometry. All participants were asked to complete a questionnaire regarding alcohol consumption during pregnancy. EtG was detected in 41 samples (80.3%) and EtS was present in all 51 samples (100%). Three of the 51 women did not complete the questionnaire. Of the remaining 48, six (11.7%) reported alcohol consumption during pregnancy. The median concentrations of EtG and EtS were 49.6 ng/g and 13.9 ng/g, respectively. Median levels of both biomarkers were higher among women who reported alcohol use compared to those who denied it. Notably, EtG concentrations exceeding 30 ng/g - previously suggested in the literature as a potential cut off for PAE - were found in 82.35% of women who reported no alcohol use. This study confirms that EtG and EtS are reliable markers of ethanol exposure in meconium. However, we were unable to determine definitive cut off values for PAE based on these biomarkers. Elevated EtG levels in women who denied alcohol consumption may be attributable to alternative sources of ethanol exposure or endogenous ethanol production. The possibility of underreporting PAE also cannot be ruled out.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"90 5","pages":"360-365"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145423047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Luděk Kostka, Marta Ježová, Zuzana Mikulenková, Anna Jouzová, Lukáš Hruban
Fetal growth restriction is a condition in which the fetus fails to reach its genetically determined growth potential, most often as a result of impaired placental function. The late-onset form, which develops after 32 weeks of gestation, poses a significant diagnostic challenge due to its subtle clinical and sonographic manifestations. Placental insufficiency is usually associated with pregnancies that meet the established diagnostic criteria for fetal growth restriction. However, there is increasing evidence to suggest that even fetuses with an estimated weight appropriate for gestational age may be affected by a subclinical form of this condition. Typical features of advanced placental dysfunction include abnormal Doppler flow patterns, a slowed fetal growth trajectory, altered levels of maternal serum biomarkers, and specific histopathological findings in the placenta. Despite advances in prenatal diagnostics, there is still no reliable tool capable of identifying pregnancies complicated by placental insufficiency in a timely manner, especially in cases without overt fetal growth deviation. This diagnostic gap limits our ability to identify fetuses at increased risk of adverse perinatal outcomes.
{"title":"Placental insufficiency and late-onset growth restriction in fetuses appropriate for gestational age.","authors":"Luděk Kostka, Marta Ježová, Zuzana Mikulenková, Anna Jouzová, Lukáš Hruban","doi":"10.48095/cccg2025398","DOIUrl":"https://doi.org/10.48095/cccg2025398","url":null,"abstract":"<p><p>Fetal growth restriction is a condition in which the fetus fails to reach its genetically determined growth potential, most often as a result of impaired placental function. The late-onset form, which develops after 32 weeks of gestation, poses a significant diagnostic challenge due to its subtle clinical and sonographic manifestations. Placental insufficiency is usually associated with pregnancies that meet the established diagnostic criteria for fetal growth restriction. However, there is increasing evidence to suggest that even fetuses with an estimated weight appropriate for gestational age may be affected by a subclinical form of this condition. Typical features of advanced placental dysfunction include abnormal Doppler flow patterns, a slowed fetal growth trajectory, altered levels of maternal serum biomarkers, and specific histopathological findings in the placenta. Despite advances in prenatal diagnostics, there is still no reliable tool capable of identifying pregnancies complicated by placental insufficiency in a timely manner, especially in cases without overt fetal growth deviation. This diagnostic gap limits our ability to identify fetuses at increased risk of adverse perinatal outcomes.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"90 5","pages":"398-406"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145423053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Paula Borela Perfeito Abud, Flora Margarida Barra Bizinoto, Natália Nunes Santos, Letícia Tereza Dornelas de Melo, Rafaela Barcelos Andrade, Bruno Henrique Gomes Parizzi, Millena Prata Jammal, Douglas Côbo Micheli, Eddie Fernando Candido Murta, Rosekeila Simões Nomelini
Objectives: To examine the relationships between postoperative pain and anesthetic technique and analgesic use, to compare preoperative and postoperative serum cytokine levels, and to determine the influence of the anesthetic technique on these levels in patients undergoing breast cancer surgery.
Materials and methods: Thirty-six patients undergoing oncological breast surgery were allocated to general anesthesia only (G; N = 20) and general anesthesia with erector spinae plane block (ESPB, E; N = 16) groups. Postoperative pain intensity was evaluated using a visual analogue scale at three periods (M): 2, 24, and 48 hours after the end of surgery (M2, M24, and M48, resp.). Blood was collected preoperatively, before the induction of general anesthesia (M0), and at M24 and M48. Plasma interleukin (IL) -1, IL-8, and tumor necrosis factor-α (TNF-α) levels were determined by enzyme-linked immunosorbent assay. Associations between categorical variables were evaluated using the Fisher's exact test. Pain scores and cytokine levels were compared between groups G and E and between patients undergoing mastectomy and quadrantectomy using repeated-measures analysis of variance. The significance level adopted for all tests was 5.0%.
Results: Moderate to severe pain was more frequent in group G than in group E at M24 (P = 0.016). The IL-8 level was lower in group E than in group G (P = 0.029). In the whole cohort, TNF-α level was reduced at M48 (P = 0.010), IL-8 level was reduced at M24 (P < 0.001), and IL-1 level was increased at M48 (P < 0.001).
Conclusions: ESPB is an effective alternative in cases with contraindications or technical difficulties with other anesthetic techniques, such as epidurals. Its use could improve women's quality of life and health after breast cancer surgery.
目的:探讨乳腺癌手术患者术后疼痛与麻醉技术及镇痛药使用的关系,比较术前和术后血清细胞因子水平,并确定麻醉技术对这些水平的影响。材料与方法:将36例乳腺肿瘤手术患者分为单纯全麻组(G, N = 20)和全麻加竖脊平面阻滞组(ESPB, E, N = 16)。术后疼痛强度采用视觉模拟量表在手术结束后2、24和48小时(M2、M24和M48,分别)三个时期(M)进行评估。术前、全麻诱导前(M0)、M24、M48采集血液。采用酶联免疫吸附法检测血浆白细胞介素(IL) -1、IL-8和肿瘤坏死因子-α (TNF-α)水平。分类变量之间的关联使用Fisher精确检验进行评估。采用重复测量方差分析比较G组和E组以及乳房切除术和四象限切除术患者的疼痛评分和细胞因子水平。所有检验采用的显著性水平为5.0%。结果:M24时,G组中重度疼痛发生率高于E组(P = 0.016)。E组IL-8水平低于G组(P = 0.029)。在整个队列中,M48时TNF-α水平降低(P = 0.010), M24时IL-8水平降低(P < 0.001), M48时IL-1水平升高(P < 0.001)。结论:ESPB是一种有效的替代方案,适用于有禁忌症或技术困难的其他麻醉技术,如硬膜外麻醉。它的使用可以改善乳腺癌手术后妇女的生活质量和健康。
{"title":"Postoperative analgesia in breast cancer surgeries - anesthetic techniques and the role of cytokines.","authors":"Paula Borela Perfeito Abud, Flora Margarida Barra Bizinoto, Natália Nunes Santos, Letícia Tereza Dornelas de Melo, Rafaela Barcelos Andrade, Bruno Henrique Gomes Parizzi, Millena Prata Jammal, Douglas Côbo Micheli, Eddie Fernando Candido Murta, Rosekeila Simões Nomelini","doi":"10.48095/cccg2025447","DOIUrl":"https://doi.org/10.48095/cccg2025447","url":null,"abstract":"<p><strong>Objectives: </strong>To examine the relationships between postoperative pain and anesthetic technique and analgesic use, to compare preoperative and postoperative serum cytokine levels, and to determine the influence of the anesthetic technique on these levels in patients undergoing breast cancer surgery.</p><p><strong>Materials and methods: </strong>Thirty-six patients undergoing oncological breast surgery were allocated to general anesthesia only (G; N = 20) and general anesthesia with erector spinae plane block (ESPB, E; N = 16) groups. Postoperative pain intensity was evaluated using a visual analogue scale at three periods (M): 2, 24, and 48 hours after the end of surgery (M2, M24, and M48, resp.). Blood was collected preoperatively, before the induction of general anesthesia (M0), and at M24 and M48. Plasma interleukin (IL) -1, IL-8, and tumor necrosis factor-α (TNF-α) levels were determined by enzyme-linked immunosorbent assay. Associations between categorical variables were evaluated using the Fisher's exact test. Pain scores and cytokine levels were compared between groups G and E and between patients undergoing mastectomy and quadrantectomy using repeated-measures analysis of variance. The significance level adopted for all tests was 5.0%.</p><p><strong>Results: </strong>Moderate to severe pain was more frequent in group G than in group E at M24 (P = 0.016). The IL-8 level was lower in group E than in group G (P = 0.029). In the whole cohort, TNF-α level was reduced at M48 (P = 0.010), IL-8 level was reduced at M24 (P < 0.001), and IL-1 level was increased at M48 (P < 0.001).</p><p><strong>Conclusions: </strong>ESPB is an effective alternative in cases with contraindications or technical difficulties with other anesthetic techniques, such as epidurals. Its use could improve women's quality of life and health after breast cancer surgery.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"90 6","pages":"447-456"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146041714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: Despite advancements in assisted reproduction, the cause of up to 50% of cases of idiopathic fertility disorders remains unclear. The immune system, particularly the interaction between human leukocyte antigen-C (HLA-C) molecules on the trophoblast and killer-cell immunoglobulin-like receptors (KIR) on uterine natural killer (NK) cells, plays a crucial role in implantation and placental development. The aim of this analysis was to evaluate our experience with testing KIR/HLA-C compatibility and its potential role in personalizing infertility treatment.
Methods: This is an interventional study examining the success of therapy in 23 couples who underwent infertility treatment with donated gametes between 1/2023 and 12/2024, with additional consideration of KIR/HLA-C compatibility between the recipient and the donor. For better homogeneity of the sample, patients in the intervention group were divided into two subgroups. The first subgroup consisted of 14 couples undergoing their first therapy with donated gametes. The second subgroup consisted of 9 couples with a history of repeated unsuccessful embryo transfers from donated gametes. A control group of 320 single embryo transfers with donated gametes from couples treated using standard methods between 1/2023 and 12/2024 was used for comparison.
Results: In both intervention subgroups, success rates were comparable. Clinical pregnancy was achieved in 62.5% and 63.6%, resp., which exceeded the average success rate of 55.2% in the control group.
Conclusion: The high number of achieved clinical pregnancies in a prognostically unfavorable group, burdened by repeated unsuccessful embryo transfers, appears to be a therapeutic success. It is important to bear in mind the low number of evaluated transfers; however, this result suggests that testing KIR/HLA-C compatibility between the recipient and the donor and taking it into account when selecting a donor may significantly increase the success of therapy in indicated cases.
{"title":"HLA-C and KIR interactions as a possible cause of reproductive failures.","authors":"Eva Šťastná, Hana Višňová","doi":"10.48095/cccg2025435","DOIUrl":"https://doi.org/10.48095/cccg2025435","url":null,"abstract":"<p><strong>Objective: </strong>Despite advancements in assisted reproduction, the cause of up to 50% of cases of idiopathic fertility disorders remains unclear. The immune system, particularly the interaction between human leukocyte antigen-C (HLA-C) molecules on the trophoblast and killer-cell immunoglobulin-like receptors (KIR) on uterine natural killer (NK) cells, plays a crucial role in implantation and placental development. The aim of this analysis was to evaluate our experience with testing KIR/HLA-C compatibility and its potential role in personalizing infertility treatment.</p><p><strong>Methods: </strong>This is an interventional study examining the success of therapy in 23 couples who underwent infertility treatment with donated gametes between 1/2023 and 12/2024, with additional consideration of KIR/HLA-C compatibility between the recipient and the donor. For better homogeneity of the sample, patients in the intervention group were divided into two subgroups. The first subgroup consisted of 14 couples undergoing their first therapy with donated gametes. The second subgroup consisted of 9 couples with a history of repeated unsuccessful embryo transfers from donated gametes. A control group of 320 single embryo transfers with donated gametes from couples treated using standard methods between 1/2023 and 12/2024 was used for comparison.</p><p><strong>Results: </strong>In both intervention subgroups, success rates were comparable. Clinical pregnancy was achieved in 62.5% and 63.6%, resp., which exceeded the average success rate of 55.2% in the control group.</p><p><strong>Conclusion: </strong>The high number of achieved clinical pregnancies in a prognostically unfavorable group, burdened by repeated unsuccessful embryo transfers, appears to be a therapeutic success. It is important to bear in mind the low number of evaluated transfers; however, this result suggests that testing KIR/HLA-C compatibility between the recipient and the donor and taking it into account when selecting a donor may significantly increase the success of therapy in indicated cases.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"90 6","pages":"435-441"},"PeriodicalIF":0.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146041764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marta Nováčková, Nikoleta Chubanovová, Roman Chmel
: An interlabial mass in newborn girls is diagnosed usually after birth or during the first days or weeks of life. According to various studies, its prevalence ranges between 1 : 500 and 1 : 7,000 newborn girls. A mass in the vaginal introitus or between the labia majora can cause a diagnostic dilemma and may be suspected even of ambiguous genitalia. Interlabial masses of different etiologies present clinically similar, and therefore, can be misdiagnosed. The most common causes of an interlabial mass in a newborn are hymenal and paraurethral cysts, both of which present as thin-walled spherical formations filled with golden fluid. When diagnosing a cystic interlabial tumor, it is necessary to particularly exclude a non-perforated hymen with hydrocolpos and prolapse of an ectopic ureterocele. In the differential diagnosis, prolapse of the urethra, rhabdomyosarcoma of the vagina or cervix, urethral or vaginal polyps, and extremely rare conditions such as genital prolapse or duplicate rectum cannot be omitted. A newborn girl with an interlabial formation should be examined by a pediatrician, gynecologist, surgeon, or urologist depending on the nature of the clinical findings. Once the etiology of an interlabial mass is identified, expectant management or surgery should be chosen. Early surgical treatment of hydrocolpos and prolapse of a ureterocele can prevent lower urinary tract obstruction and life-threatening renal damage.
{"title":"Interlabial masses in newborn girls.","authors":"Marta Nováčková, Nikoleta Chubanovová, Roman Chmel","doi":"10.48095/cccg2024411","DOIUrl":"https://doi.org/10.48095/cccg2024411","url":null,"abstract":"<p><p>: An interlabial mass in newborn girls is diagnosed usually after birth or during the first days or weeks of life. According to various studies, its prevalence ranges between 1 : 500 and 1 : 7,000 newborn girls. A mass in the vaginal introitus or between the labia majora can cause a diagnostic dilemma and may be suspected even of ambiguous genitalia. Interlabial masses of different etiologies present clinically similar, and therefore, can be misdiagnosed. The most common causes of an interlabial mass in a newborn are hymenal and paraurethral cysts, both of which present as thin-walled spherical formations filled with golden fluid. When diagnosing a cystic interlabial tumor, it is necessary to particularly exclude a non-perforated hymen with hydrocolpos and prolapse of an ectopic ureterocele. In the differential diagnosis, prolapse of the urethra, rhabdomyosarcoma of the vagina or cervix, urethral or vaginal polyps, and extremely rare conditions such as genital prolapse or duplicate rectum cannot be omitted. A newborn girl with an interlabial formation should be examined by a pediatrician, gynecologist, surgeon, or urologist depending on the nature of the clinical findings. Once the etiology of an interlabial mass is identified, expectant management or surgery should be chosen. Early surgical treatment of hydrocolpos and prolapse of a ureterocele can prevent lower urinary tract obstruction and life-threatening renal damage.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"89 5","pages":"411-416"},"PeriodicalIF":0.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Květoslava Michalová, Jiří Presl, Andrea Straková-Peteříková, Ondrej Ondič, Tomáš Vaneček, Nikola Hejhalová, Petr Holub, Petr Slavík, Adam Hluchý, Polina Gettse, Ondřej Daum, Marián Švajdler, Michal Michal
Objective: Molecular classification of endometrial carcinomas (EC) divides these neoplasms into four distinct subgroups defined by a molecular background. Given its proven clinical significance, genetic examination is becoming an integral component of the diagnostic procedure. Recommended diagnostic algorithms comprise molecular genetic testing of the POLE gene, whereas the remaining parameters are examined solely by immunohistochemistry. The aim of this study is to share our experiences with the molecular classification of EC, which has been conducted using immunohistochemistry and next-generation sequencing (NGS) at our department.
Methods: This study includes all cases of EC diagnosed at Šikl's Department of Pathology and Biopticka Laboratory Ltd. from 2020 to the present. All ECs were prospectively examined by immunohistochemistry (MMR, p53), fol lowed by NGS examination using a customized Gyncore panel (including genes POLE, POLD1, MSH2, MSH6, MLH1, PMS2, TP53, PTEN, ARID1A, PIK3CA, PIK3R1, CTNNB1, KRAS, NRAS, BRCA1, BRCA2, BCOR, ERBB2), based on which the ECs were classified into four molecularly distinct groups [POLE mutated EC (type 1), hypermutated (MMR deficient, type 2), EC with no specific molecular profile (type 3), and TP53 mutated ("copy number high", type 4)].
Results: The cohort comprised a total of 270 molecularly classified ECs. Eighteen cases (6.6%) were classified as POLE mutated EC, 85 cases (31.5%) as hypermutated EC (MMR deficient), 137 cases (50.7%) as EC of no specific molecular profile, and 30 cases (11.1%) as TP53 mutated EC. Twelve cases (4.4%) were classified as "multiple classifier" endometrial carcinoma. ECs of no specific molecular profile showed multiple genetic alterations, with the most common mutations being PTEN (44% within the group of NSMP), fol lowed by PIK3CA (30%), ARID1A (21%), and KRAS (9%).
Conclusion: In comparison with recommended diagnostic algorithms, NGS provides a more reliable classification of EC into particular molecular subgroups. Furthermore, NGS reveals the complex molecular genetic background in individual ECs, which is especially significant within ECs with no specific molecular profile. These data can serve as a springboard for the research of therapeutic programs committed to targeted therapy in this type of tumor.
{"title":"Advantages of next-generation sequencing (NGS) in the molecular classifi cation of endometrial carcinomas - our experience with 270 cases.","authors":"Květoslava Michalová, Jiří Presl, Andrea Straková-Peteříková, Ondrej Ondič, Tomáš Vaneček, Nikola Hejhalová, Petr Holub, Petr Slavík, Adam Hluchý, Polina Gettse, Ondřej Daum, Marián Švajdler, Michal Michal","doi":"10.48095/cccg2024349","DOIUrl":"https://doi.org/10.48095/cccg2024349","url":null,"abstract":"<p><strong>Objective: </strong>Molecular classification of endometrial carcinomas (EC) divides these neoplasms into four distinct subgroups defined by a molecular background. Given its proven clinical significance, genetic examination is becoming an integral component of the diagnostic procedure. Recommended diagnostic algorithms comprise molecular genetic testing of the POLE gene, whereas the remaining parameters are examined solely by immunohistochemistry. The aim of this study is to share our experiences with the molecular classification of EC, which has been conducted using immunohistochemistry and next-generation sequencing (NGS) at our department.</p><p><strong>Methods: </strong>This study includes all cases of EC diagnosed at Šikl's Department of Pathology and Biopticka Laboratory Ltd. from 2020 to the present. All ECs were prospectively examined by immunohistochemistry (MMR, p53), fol lowed by NGS examination using a customized Gyncore panel (including genes POLE, POLD1, MSH2, MSH6, MLH1, PMS2, TP53, PTEN, ARID1A, PIK3CA, PIK3R1, CTNNB1, KRAS, NRAS, BRCA1, BRCA2, BCOR, ERBB2), based on which the ECs were classified into four molecularly distinct groups [POLE mutated EC (type 1), hypermutated (MMR deficient, type 2), EC with no specific molecular profile (type 3), and TP53 mutated (\"copy number high\", type 4)].</p><p><strong>Results: </strong>The cohort comprised a total of 270 molecularly classified ECs. Eighteen cases (6.6%) were classified as POLE mutated EC, 85 cases (31.5%) as hypermutated EC (MMR deficient), 137 cases (50.7%) as EC of no specific molecular profile, and 30 cases (11.1%) as TP53 mutated EC. Twelve cases (4.4%) were classified as \"multiple classifier\" endometrial carcinoma. ECs of no specific molecular profile showed multiple genetic alterations, with the most common mutations being PTEN (44% within the group of NSMP), fol lowed by PIK3CA (30%), ARID1A (21%), and KRAS (9%).</p><p><strong>Conclusion: </strong>In comparison with recommended diagnostic algorithms, NGS provides a more reliable classification of EC into particular molecular subgroups. Furthermore, NGS reveals the complex molecular genetic background in individual ECs, which is especially significant within ECs with no specific molecular profile. These data can serve as a springboard for the research of therapeutic programs committed to targeted therapy in this type of tumor.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"89 5","pages":"349-359"},"PeriodicalIF":0.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrea Erdősová, Petra Gašparová, Zuzana Ballová, Erik Dosedla
A birth plan is a document that defines mother's preferences and expectations regarding childbirth and early puerperium. The purpose of the birth plan is to establish communication about mother's birth wishes and to properly convey them to the health care providers. With increasing computerization of society, birth plan is currently the subject of heated debate. In this article, we present historical view of the birth plan, as well as current legislation regarding the birth plan, as we do not consider legal awareness of obstetricians to be sufficient at the moment. The purpose of this article is to appeal to the professional public so they have up-to-date information about the birth plan, especially in discussions with patients, but also during forensic procedures. The preservation of excellent perinatological results under our circumstances is only possible by providing professional, empathetic and very intimate health care in hospital institutions.
{"title":"Birth plan - legal and medical aspects.","authors":"Andrea Erdősová, Petra Gašparová, Zuzana Ballová, Erik Dosedla","doi":"10.48095/cccg202461","DOIUrl":"10.48095/cccg202461","url":null,"abstract":"<p><p>A birth plan is a document that defines mother's preferences and expectations regarding childbirth and early puerperium. The purpose of the birth plan is to establish communication about mother's birth wishes and to properly convey them to the health care providers. With increasing computerization of society, birth plan is currently the subject of heated debate. In this article, we present historical view of the birth plan, as well as current legislation regarding the birth plan, as we do not consider legal awareness of obstetricians to be sufficient at the moment. The purpose of this article is to appeal to the professional public so they have up-to-date information about the birth plan, especially in discussions with patients, but also during forensic procedures. The preservation of excellent perinatological results under our circumstances is only possible by providing professional, empathetic and very intimate health care in hospital institutions.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"89 1","pages":"61-65"},"PeriodicalIF":0.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139991405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Martin Hruda, Borek Sehnal, Michael J. Halaška, Jana Drozenová, Helena Robová, Tomáš Pichlík, Lukáš Rob
Aim: To review the changes in the new version of the FIGO 2023 staging system for endometrial cancer.
Methods and results: The new FIGO 2023 endometrial cancer staging system provides key updates for the diagnosis and treatment of endometrial cancer. An important step in diagnosis is molecular classification, which allows more accurate risk stratification for recurrence and the identification of targeted therapies. The new staging system, based on the recommendations of the international societies ESGO, ESTRO and ESP, incorporates not only the description of the pathological and anatomical extent of the disease, but also the histopathological characteristics of the tumour, including the histological type and the presence of lymphovascular space invasion. In addition, the staging system uses molecular testing to classify endometrial cancers into four prognostic groups: POLEmut, MMRd, NSMP and p53abn. Each group has its own specific characteristics and prognosis. The most significant changes have occurred in stages I and II, in which the sub-staging better reflects the biological behaviour of the tumour. This update increases the accuracy of prognosis and improves individualized treatment options for patients with endometrial cancer.
Conclusion: The updated FIGO staging of endometrial cancer for 2023 incorporates different histologic types, tumour features, and molecular classifications to better reflect the current improved understanding of the complex nature of several endometrial cancer types and their underlying bio logic behaviour. The aim of the new endometrial cancer staging system is to better define stages with similar prognosis, allowing for more precise indication of individualised adjuvant radiation or systemic treatment, including the use of immunotherapy.
目的:回顾新版 FIGO 2023 子宫内膜癌分期系统的变化:新版 FIGO 2023 子宫内膜癌分期系统为子宫内膜癌的诊断和治疗提供了重要更新。分子分类是诊断的重要一步,它可以更准确地进行复发风险分层并确定靶向治疗。新的分期系统以国际学会 ESGO、ESTRO 和 ESP 的建议为基础,不仅包括病理解剖范围的描述,还包括肿瘤的组织病理学特征,包括组织学类型和是否存在淋巴管间隙侵犯。此外,该分期系统还利用分子检测将子宫内膜癌分为四个预后组:POLEmut、MMRd、NSMP 和 p53abn。每个组别都有各自的特点和预后。最重要的变化发生在 I 期和 II 期,在这两期中,亚分期更好地反映了肿瘤的生物学行为。这一更新提高了预后的准确性,改善了子宫内膜癌患者的个体化治疗方案:2023 年更新的 FIGO 子宫内膜癌分期纳入了不同的组织学类型、肿瘤特征和分子分类,以更好地反映当前对几种子宫内膜癌类型的复杂性及其潜在生物逻辑行为的深入理解。新的子宫内膜癌分期系统旨在更好地界定预后相似的分期,以便更精确地指示个体化辅助放射治疗或全身治疗,包括使用免疫疗法。
{"title":"New staging of endometrial carcinoma - FIGO 2023.","authors":"Martin Hruda, Borek Sehnal, Michael J. Halaška, Jana Drozenová, Helena Robová, Tomáš Pichlík, Lukáš Rob","doi":"10.48095/cccg2024120","DOIUrl":"10.48095/cccg2024120","url":null,"abstract":"<p><strong>Aim: </strong>To review the changes in the new version of the FIGO 2023 staging system for endometrial cancer.</p><p><strong>Methods and results: </strong>The new FIGO 2023 endometrial cancer staging system provides key updates for the diagnosis and treatment of endometrial cancer. An important step in diagnosis is molecular classification, which allows more accurate risk stratification for recurrence and the identification of targeted therapies. The new staging system, based on the recommendations of the international societies ESGO, ESTRO and ESP, incorporates not only the description of the pathological and anatomical extent of the disease, but also the histopathological characteristics of the tumour, including the histological type and the presence of lymphovascular space invasion. In addition, the staging system uses molecular testing to classify endometrial cancers into four prognostic groups: POLEmut, MMRd, NSMP and p53abn. Each group has its own specific characteristics and prognosis. The most significant changes have occurred in stages I and II, in which the sub-staging better reflects the biological behaviour of the tumour. This update increases the accuracy of prognosis and improves individualized treatment options for patients with endometrial cancer.</p><p><strong>Conclusion: </strong>The updated FIGO staging of endometrial cancer for 2023 incorporates different histologic types, tumour features, and molecular classifications to better reflect the current improved understanding of the complex nature of several endometrial cancer types and their underlying bio logic behaviour. The aim of the new endometrial cancer staging system is to better define stages with similar prognosis, allowing for more precise indication of individualised adjuvant radiation or systemic treatment, including the use of immunotherapy.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"89 2","pages":"120-127"},"PeriodicalIF":0.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140862496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Robert Hudeček, Lenka Mekiňová, Soňa Šimová, Lucie Bánovská, Andrea Hledíková
Aim: A review of diagnostic options and standardized methods for specifying clinical symptoms associated with uterine myomatosis.
Methods: A literature search of databases aimed at finding validated metrics for assessing myomas symptomatology.
Results: Summary of obligatory and optional examination methods in the diagnosis of uterine fibroids and methods of examination of reproductive parameters of the couple in relation to myomatosis. Defining the metrics of bleeding manifestations of myomatosis with emphasis on the "Pictorial Bleeding Assessment Chart". Reviewing metrics of algic manifestations of myomatosis and quality of life with emphasis on the "Quality of Life Questionnaire - Myomatosis - Severity Symptom Scale".
Conclusion: The purpose of the applicable metrics, which summarize objective findings and subjective complaints of patients, is to describe and evaluate possible correlations and dynamics of changes in the health status, depending on the chosen therapy.
{"title":"Metrics of uterine myomatosis symptomatology in clinical practice.","authors":"Robert Hudeček, Lenka Mekiňová, Soňa Šimová, Lucie Bánovská, Andrea Hledíková","doi":"10.48095/cccg2024144","DOIUrl":"10.48095/cccg2024144","url":null,"abstract":"<p><strong>Aim: </strong>A review of diagnostic options and standardized methods for specifying clinical symptoms associated with uterine myomatosis.</p><p><strong>Methods: </strong>A literature search of databases aimed at finding validated metrics for assessing myomas symptomatology.</p><p><strong>Results: </strong>Summary of obligatory and optional examination methods in the diagnosis of uterine fibroids and methods of examination of reproductive parameters of the couple in relation to myomatosis. Defining the metrics of bleeding manifestations of myomatosis with emphasis on the \"Pictorial Bleeding Assessment Chart\". Reviewing metrics of algic manifestations of myomatosis and quality of life with emphasis on the \"Quality of Life Questionnaire - Myomatosis - Severity Symptom Scale\".</p><p><strong>Conclusion: </strong>The purpose of the applicable metrics, which summarize objective findings and subjective complaints of patients, is to describe and evaluate possible correlations and dynamics of changes in the health status, depending on the chosen therapy.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"89 2","pages":"144-150"},"PeriodicalIF":0.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140872356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrea Erdősová, Petra Gašparová, Zuzana Ballová, Erik Dosedla
Caesarean section on request, a request that we have been encountering more and more recently. This can be interpreted as a primary caesarean section performed as a request of the mother without any relevant obstetrical or other medical indications in order to avoid vaginal delivery. The most common reason for mothers' requests for caesarean section is the fear of childbirth and the associated pain. Currently, medicine recognises the patient's right to actively participate in the choice of treatment procedures, including methods of delivery. We have accepted patients' claim for various aesthetic surgical interventions, in case they provide informed consent. The same principle should be maintained for caesarean sections on request.
{"title":"Caesarean section on request - a controversial request or the patient's right?","authors":"Andrea Erdősová, Petra Gašparová, Zuzana Ballová, Erik Dosedla","doi":"10.48095/cccg2024245","DOIUrl":"https://doi.org/10.48095/cccg2024245","url":null,"abstract":"<p><p>Caesarean section on request, a request that we have been encountering more and more recently. This can be interpreted as a primary caesarean section performed as a request of the mother without any relevant obstetrical or other medical indications in order to avoid vaginal delivery. The most common reason for mothers' requests for caesarean section is the fear of childbirth and the associated pain. Currently, medicine recognises the patient's right to actively participate in the choice of treatment procedures, including methods of delivery. We have accepted patients' claim for various aesthetic surgical interventions, in case they provide informed consent. The same principle should be maintained for caesarean sections on request.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"89 3","pages":"245-252"},"PeriodicalIF":0.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141538693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}