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1.
Rom J Morphol Embryol ; 65(2): 185-193, 2024.
Article in English | MEDLINE | ID: mdl-39020532

ABSTRACT

Various histological cell types, high histological grade, extensive myometrial invasion, and the presence of lymphovascular involvement are recognized as risk factors for disease development. Individuals carrying mutations in MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MutS homolog 6 (MSH6), or postmeiotic segregation increased 2 (PMS2) genes face an increased susceptibility to both endometrial and colorectal malignancies, with a lifetime risk ranging from 40% to 60%. This research aimed to investigate the prevalence of specific immunohistochemical (IHC) markers and microsatellite instability in endometrial carcinomas and explore potential associations with patient characteristics and clinical outcomes. Out of 58 patients with comprehensive follow-up data, a subgroup of 21 cases underwent rigorous IHC evaluation, involving estrogen receptor (ER), progesterone receptor (PR), Ki67, MLH1, MSH2, MSH6, PMS2, and p53 markers. Statistical analysis, employing the χ² (chi-squared) test, was conducted to assess the connection between individual IHC markers and clinical outcomes, with particular emphasis on the influence of radiation, chemotherapy, or brachytherapy treatment, as well as the occurrence of recurrence or mortality. Notably, significant correlations were observed in cases where MSH2 and MSH6 exhibited positive results, indicating their association with the use of chemotherapy and brachytherapy. However, the analysis pertaining to International Federation of Gynecology and Obstetrics (FIGO) stage or tumor grade did not reveal any statistically significant relationships with these parameters.


Subject(s)
Endometrial Neoplasms , Immunohistochemistry , Humans , Female , Endometrial Neoplasms/pathology , Endometrial Neoplasms/metabolism , Endometrial Neoplasms/genetics , Immunohistochemistry/methods , Middle Aged , Prognosis , Aged , Adult
2.
Medicina (Kaunas) ; 59(10)2023 Oct 16.
Article in English | MEDLINE | ID: mdl-37893556

ABSTRACT

The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.


Subject(s)
Abnormalities, Multiple , DiGeorge Syndrome , Heart Defects, Congenital , Pulmonary Valve , Infant, Newborn , Pregnancy , Female , Humans , DiGeorge Syndrome/complications , DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/genetics , Aorta, Thoracic , Chromosome Deletion , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/genetics , Heart Defects, Congenital/surgery , Abnormalities, Multiple/genetics
3.
Medicina (Kaunas) ; 58(3)2022 Feb 22.
Article in English | MEDLINE | ID: mdl-35334509

ABSTRACT

Background and Objective: To correlate the intraocular pressure with the postconceptional age and identify a statistically significant connection between congenital glaucoma and prematurity. Materials and Methods: The current paper is a retrospective, comparative, case-control study. Data collection featured maternal age, gestational age at birth, birth weight, and intraocular ocular pressure (IOP) measurements. Results: Forty-two eyes of 21 children underwent examination. The participants were assigned into two groups. The Preterm-Glaucoma (PG) group included eight preterm-born children diagnosed with glaucoma, whereas the Preterm (P) group was comprised of premature newborns without the aforementioned condition. There was no statistically relevant difference in birth weight (p = 0.691078) nor in mean gestational age (p = 0.752623) between the two groups. The mean IOP in the PG group was 23.813 ± 4.5493, whereas in the P group, it ranged around 13.231 ± 1.0699, p < 0.0001. Using mixed-effects models, we obtained a reduction in IOP of 0.45 mmHg per week in the first month of life. A further weekly reduction of 0.36 mmHg was achieved in the next two months. Conclusions: The mean IOP of prematurely born children decreased with age. Our findings correlate with previously conducted studies, however, the drop in IOP values exceeded any data published so far. We found no correlation between prematurity and the incidence of congenital glaucoma.


Subject(s)
Glaucoma , Tonometry, Ocular , Case-Control Studies , Child , Glaucoma/complications , Glaucoma/epidemiology , Humans , Infant, Newborn , Retrospective Studies , Risk Factors
5.
Eur J Obstet Gynecol Reprod Biol ; 195: 77-82, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26479435

ABSTRACT

OBJECTIVES: Since licensure of HPV vaccine in 2006, HPV vaccine coverage among Romanian adolescents remains worryingly low. The objectives of the study were to assess the knowledge and attitudes towards HPV infection and vaccination among Romanian adolescents and to explore the barriers to HPV vaccination with a view to developing strategies for expanding primary HPV infection prevention. STUDY DESIGN: This study was conducted in Bucharest between April and June 2015. A total of 524 adolescents aged 16-18 years old were recruited from the first two general highschools in Bucharest (according to the admission grade) and completed a self-administered questionnaire including demographics, HPV related and Papanicolau smear test knowledge. Odds ratio and 95% confidence intervals were used to identify the strength of association. Logistic regression analysis was used to identify the effect of demographic characteristics on the level of knowledge and HPV vaccination rate. Associations were considered statistically significant at p<0.05. RESULTS: Of the adolescents interviewed, a very small proportion had heard of HPV infection, HPV vaccine and Papanicolau smear test, that is, 20.22%, 67.92% and 22.9%, respectively. The overall vaccination rate for this group was 2.3%. The most common reason for not receiving the HPV vaccine was the lack of information (80.6%) followed by parents' concerns regarding safety (11%), fear of pain (5.59%) and not being sexually active (2.7%). However, 97.7% of the respondents declared interest in receiving more information about HPV. According to demographic characteristics, age at first sexual intercourse over 16 years old, monthly household income over one thousand euros and self-perceived good relationship with family members were statistically associated on a multivariate logistic regression analysis with a high HPV knowledge score and rate of vaccination. CONCLUSIONS: This study shows a low level of knowledge about HPV infection and prophylactic vaccination among Romanian adolescents which may be one of the most important factors for the alarmingly low HPV vaccination rate. We specifically call for HPV knowledge and awareness programs; the implication of health professionals, Romanian media and family members should be included as a centrepiece in the effort to inform this vulnerable population group.


Subject(s)
Early Detection of Cancer , Health Knowledge, Attitudes, Practice , Papillomavirus Infections/prevention & control , Papillomavirus Vaccines/therapeutic use , Sexual Behavior , Uterine Cervical Neoplasms/prevention & control , Adolescent , Female , Humans , Income , Logistic Models , Male , Multivariate Analysis , Odds Ratio , Papanicolaou Test , Papillomavirus Infections/diagnosis , Romania , Surveys and Questionnaires , Uterine Cervical Neoplasms/diagnosis , Vaginal Smears
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