Objective: To report a case with Crigler-Najjar syndrome type 2 of elevated bilirubin levels who was treated with triple therapy. Case(s): Crigler-Najjar syndrome is a rare congenital disorder that causes non-obstructive non-hemolytic unconjugated jaundice. The syndrome is divided into two groups according to the severity and the clinical presentation of the disease. In these cases, there is an elevated risk of antenatal death or permanent neurological impairment of the fetus due to fetal kernicterus caused by excessively increased unconjugated bilirubin levels. Phototherapy, phenobarbital and plasmapheresis can be useful in reducing serum total bilirubin concentrations, thus adverse maternal and neonatal risks. Conclusion: At her 37 weeks of gestation, the patient delivered a healthy girl. No pathological neurological findings were found and the baby had normal growth with intact neurological development.
Objectives: Deubiquitinating enzymes have been increasingly implicated in tumor progression and metastasis. Ubiquitin-specific protease 17 (USP17) and translationally controlled tumor protein 1 (TPT1) are associated with cell proliferation, migration, and cancer progression; however, their differential expression in matched primary and metastatic tissues of high-grade serous ovarian carcinoma (HGSC) has not been well defined. This study aimed to compare USP17 and TPT1 expression between matched primary and metastatic HGSC tissues and to explore their association with metastatic disease. Methods: This retrospective study included 33 patients diagnosed with HGSC. Immunohistochemical analysis of USP17 and TPT1 expression was performed using tissue microarrays (TMA) constructed from matched primary ovarian tumor tissues and corresponding metastatic tissues. USP17 expression was evaluated using a semi-quantitative composite immunohistochemical scoring system, while TPT1 expression was assessed using a semi-quantitative immunoreactivity index. Paired statistical analyses were applied to compare expression patterns between primary and metastatic tissues. Results: Primary and metastatic USP17 expression levels showed a positive correlation (Spearman’s rho = 0.349, p = 0.047) whereas paired comparison showed no significant difference between the two sites (p = 0.438). In contrast, TPT1 expression showed no statistically significant correlation (Spearman’s rho = 0.285, p = 0.107) or paired comparison showed no difference (p = 0.107) between matched primary and metastatic tissues. USP17 and TPT1 expression levels were significantly positively correlated in both primary (Spearman’s rho = 0.406, p = 0.019) and matched metastatic tissues (Spearman’s rho = 0.351, p = 0.045). Neither USP17 nor TPT1 expression showed a significant association with International Federation of Gynecology and Obstetrics (FIGO) stage, lymph node involvement, or receipt of neoadjuvant chemotherapy (NACT). Conclusions: These findings indicate a positive correlation between USP17 expression in paired primary and metastatic HGSC tissues without significant changes in overall expression levels, though causality cannot be inferred. Conversely, TPT1 expression showed no significant correlation or site-specific variation between matched tumor tissues. Further prospective and functional studies are required to validate these findings and clarify their biological significance.
30 September 2025 in Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi
Aim: To investigate obstetric complications in pregnant women who smoke and to evaluate whether first-trimester systemic inflammatory indices can predict adverse obstetric and neonatal outcomes Materials and Method: This retrospective study included 43 pregnant women aged between 18 and 45 years who had been smoking since prior to conception, and 44 healthy pregnant women, conducted between 2024 and 2025. Participants' demographic characteristics, obstetric outcomes (birth weight, gestational age at delivery), and neonatal outcomes (APGAR scores, NICU admission) and obstetric complications were assessed. First-trimester neutrophil-to-lymphocyte ratio (NLR), systemic immune-inflammation index (SII: NLR × platelet count), systemic inflammation response index (SIRI: NLR × monocyte count), aggregate index of systemic inflammation (AISI: NLR × platelet count × monocyte count), and platelet-to-lymphocyte ratio (PLR) were calculated. Receiver operating characteristic (ROC) curves were generated to evaluate the predictive value of these markers for adverse obstetric and neonatal outcomes. Results: SII, SIRI, AISI, and NLR levels were significantly higher in the smoking group compared to controls. Pregnant women who smoked had higher rates of emergency cesarean section, adverse obstetric outcomes, and NICU admissions. ROC analysis showed that first-trimester inflammatory markers significantly predicted adverse outcomes when all participants were analyzed together; however, these markers did not demonstrate predictive value within the smoking group alone. Conclusion: Adverse obstetric outcomes, increased NICU admissions, and elevated serum inflammatory markers were observed in pregnant women who smoked. However, these markers were found to be insufficient in predicting adverse outcomes.
Birinci trimester tarama testinde yüksek risk saptanan hastaya yapılan amniyosentez işlemi sonrasında Trizomi 18 tanısı konmuş ve ailenin gebeliğe devam kararı alması ile yapılan takiplerde ağır kardiyak anomali, ekstremite anomalisi ve gelişme geriliği saptanmıştır.