Objective The aim of this study was to evaluate the diagnostic accuracy and efficiency of p16/ki-67 dual stain in the identification of CIN2+ lesions, in Greek women with ASCUS or LSIL cytology. ...Methods A total of 200 women, 20 to 60 years old, were enrolled in the study. All samples were cytologically evaluated and performed for p16/ki-67 and high-risk HPV (HR-HPV) test. All patients were referred to colposcopy for biopsy and histological evaluation. Three cervical cancer (CC) screening strategies were designed and the total direct medical costs of the procedures during our clinical trial were evaluated, from a healthcare perspective. Results HPV 16 as expected was the most common HR-HPV type followed by HPV 31 and HPV 51. The risk for CIN2+ was significantly higher in HPV 16/18 positive cases. p16/ki-67 demonstrated a high sensitivity for CIN2+ identification in both ASCUS and LSIL groups (90.4% and 95%, respectively). HR-HPV test with sensitivity 52.3% and 65.5%, as well as colposcopy with sensitivity 14.3% and 36% respectively in ASCUS and LSIL group, showed inferior results compared to p16/ki-67. The specificity of p16/ki-67 for ASCUS and LSIL was 97.2% and 95.2% respectively, inferior only to colposcopy: 100% and 100%, lacking however statistical significance. HR-HPV test instead, presented the lowest specificity: 76.4% and 71.4% respectively in comparison to the other two methods. From a healthcare perspective, the costs and benefits of the tests implementation for the annual screening and triaging, in three CC screening strategies, were also calculated and discussed. Conclusions The results of the study indicate that p16/ki-67 is a safe and rapid assay that could be used to detect CIN2+ among women with mild cervical lesions, presenting both high sensitivity and specificity and could minimize the psychological and economic burden of HPV screening.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Aerobic vaginitis (AV) is a distinct clinical entity characterized by inflammation and abnormal vaginal microflora. Often mistaken for bacterial vaginosis, AV remains relatively unknown and ...underdiagnosed. AV's understanding is evolving, with some experts suggesting it may primarily be an immunological disorder, the prevalence of which has a range of 7-13% in non-pregnant women and 4.1-8.3% during pregnancy. Pregnancy can affect susceptibility to vaginal infections, leading to adverse outcomes for the woman and the newborn. This review summarizes the correlation between AV and adverse pregnancy outcomes, particularly preterm birth, the leading cause of morbidity and mortality among neonates. An improved understanding of AV's impact on pregnancy outcomes can lead to early recognition, proper management, and effective interventions. While some studies support an association between AV and preterm labor, the existing knowledge of this relationship remains limited. The evidence suggests that AV may contribute to adverse pregnancy outcomes, mainly preterm birth, but further research is needed to establish a definitive link. Further studies are needed to investigate the underlying mechanisms and clarify AV's role in premature labor. A comprehensive understanding of AV's impact on pregnancy outcomes is crucial for early recognition, appropriate management, and effective interventions.
RAD51D gene's protein product is known to be involved in the DNA repair mechanism by homologous recombination. RAD51D germline mutations have been recently associated with ovarian and breast cancer ...(OC and BC, respectively) predisposition. Our aim was to evaluate the frequency of hereditary RAD51D mutations in Greek patients. To address this, we have screened for RAD51D germline mutations 609 BRCA1- and BRCA2-negative patients diagnosed with OC, unselected for age or family history, and 569 BC patients diagnosed under 55 years and with an additional relative with BC or OC. We identified four pathogenic mutations in four unrelated individuals with family history of BC and/or OC. Three of the RAD51D carriers had developed BC, while the other one was an OC patient, thus accounting for a mutation frequency of 0.16% in the OC cohort and 0.53% in the BC cohort. One of the detected mutations is novel (c.738 + 1G > A), whereas the rest had been detected previously (p.Gln151Ter, p.Arg186Ter, and p.Arg300Ter). It is noteworthy that the 4 carrier families had 13 BC cases and only 4 OC cases. Our data support that RAD51D should be implemented into the comprehensive multigene panel, as mutation carriers may benefit from the administration of PARP inhibitors.
Breaking bad news is one of the most difficult responsibilities in medical practice. Although medical staff in clinical practice often encounter situations that necessitate the announcement of ...unpleasant news, there is a lack of training regarding their communication with patients and their families. Effective interaction between medical staff and pregnant women constitutes a crucial component of breaking down unpleasant news. This research aimed to investigate the knowledge and attitude of health professionals, particularly obstetricians, and midwives, regarding the announcement of bad news during prenatal screening.
The study was conducted between September 2017 and April 2018. One hundred professional obstetricians and midwives involved in fetal and prenatal medicine in Greece were part of the study. The study consisted of two parts: the first covered the emotional state of healthcare professionals during the announcement of unpleasant news, and the second covered the appropriate way to inform unpleasant results during prenatal testing.
In this study, only 41% of the participants considered that they felt comfortable discussing issues related to the diagnosis of an unpleasant result during prenatal testing with the pregnant woman/patient, or her relatives, and 85% accepted that they had experienced feelings of sadness, anxiety, or guilt when announcing unpleasant results. Furthermore, 87% of the participants believed that the non-verbal communication component (eye contact, body language) plays an important role in breaking bad news. Finally, 65% considered that prolonged monitoring of the ultrasound screen during prenatal screening does not increase the anxiety of pregnant women when carried out for a better medical opinion.
Delivering bad news during prenatal screening creates stress for the parents. As far as the ethical, cultural, psychological, and legal complicity of healthcare professionals is concerned, communicating unpleasant news has been a subject of discussion by many experts. It is important to understand the concerns of women regarding the risks of counseling.
Abstract Study Objective To study the presentation and causes of premature ovarian insufficiency (POI) in adolescents Design Retrospective notes review Setting Tertiary Referral Outpatient clinic for ...Pediatric and Adolescent Gynecology Participants Adolescents with POI Interventions Standard POI evaluation Main Outcome Measures Age and clinical symptoms at presentation, causative factor for POI, if identified. Results We identified 22 girls with POI, with a mean age of 15.6. Eight of them presented with delayed puberty, 3 with primary amenorrhea and the remainder presented with either irregular bleeding (9) or secondary amenorrhea (2). For those that presented with delayed puberty, only three were found to have a sex chromosome abnormality. A clear cause for the POI was identified in three further cases. Conclusions Although POI in adolescents traditionally is associated with primary amenorrhea and delayed puberty, a proportion of girls will present with irregular bleeding that may be mistaken for expected menstrual disturbances of puberty, thus delaying the diagnosis. We identified a clear cause for POI in six cases. Although there were no familial cases of POI, it remains a possibility that genetic reasons may be involved in the pathogenesis.
Mythical figures have been part of human cultural tradition for centuries, worldwide. Some of them were totally imaginary, others were likely inspired by individuals with malformation syndromes, ...while others are composites of parts of different species. Various artists have created works of art based on these mythical or hybrid beings, such as cyclops and chimeras. The plethora of representations of artworks in ancient, but also contemporary art (statues, paintings, illustrations, photographs, installations) is proof that they still continue to be a source of inspiration, although their rendering and interpretation have changed over time. Contemporary medical genetic knowledge has revealed the underlying pathogenesis and causative molecular basis of malformation syndromes and delineates the corresponding phenotypes. Today, many figures once viewed as mythical are reflected in living humans with medical diagnoses. Ancient terms that arose in mythology—cyclopia, chimera/ism, and others—live on in the medical literature.
To systematically review and appraise the existing evidence in relation to the efficacy and safety of pulsatile gonadotropin-releasing hormone (pGnRH) for the treatment of women with hypothalamic ...amenorrhea (HA).
Systematic review and meta-analysis.
Not applicable.
A total of 35 studies (three randomized and 32 observational) encompassing 1,002 women with HA.
None.
Primary outcomes: ovulation rate (OvR), pregnancy per ovulatory cycle rate (POR), and live birth per ovulatory cycle rate (LBOR). Secondary outcomes: multiple gestation (MG), ovarian hyperstimulation syndrome (OHSS), and superficial thrombophlebitis (ST) rates. The summary measures were expressed as proportions and 95% confidence intervals (CI).
Pulsatile GnRH treatment appears to achieve high OvRs. A trend toward high PORs and LBORs among women with HA is demonstrated. SC pGnRH achieves comparable OvR compared with IV pGnRH. The incidence of OHSS is low and of mild severity. Treatment with pGnRH is associated with low but slightly higher MG rates compared with the general population. IV administered pGnRH is rarely associated with ST.
The high OvRs leading to a high rate of singleton pregnancies and the low likelihood of OHSS render the pGnRH treatment modality both effective and safe for the treatment of women with HA of either primary or secondary origin.
To evaluate p16/Ki-67 dual-staining performance for detection of cervical intraepithelial neoplasia grade 2 or worse (CIN2+) in the management of women with minor cervical abnormalities.
All 759 ...enrolled patients were tested for cytology, high-risk human papillomavirus (HR-HPV) and dual p16/Ki-67 staining.
Positivity rates for HR-HPV and dual staining increased as dysplasia was worsened from non-CIN (37.6% and 0%) to CIN1 (62.5% and 1.6%) and CIN2+ (98.7% and 97.3%), respectively. HPV18 and HPV16 exhibited the highest odds ratios (53.16 and 11.31) in the CIN2+ group. Both p16/Ki-67 dual staining and HR-HPV presented similar sensitivities (97.3% and 98.7%, respectively) for CIN2+ detection. Dual staining specificity, however, was 99.3%, significantly higher compared to HR-HPV testing (52.2%). The utility of dual staining was evaluated in different screening strategies and appeared to reduce the number of colposcopies required for the detection of CIN2+ cases.
p16/Ki-67 dual-staining cytology is a surrogate triage biomarker in cytology-based screening programs, with high performance for efficient risk stratification of women with mild cervical abnormalities.
Objective: Mutations in the gene encoding the gap junction protein connexin 26 (
GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. One ...specific mutation, 35delG, has accounted for the majority of the mutations detected in the
GJB2 gene in Caucasian populations. The aim of our study was to determine the prevalence and spectrum of
GJB2 mutations in prelingual deafness in the Greek population.
Methods: In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific polymerase chain reaction (PCR) for the detection of the 35delG mutation. Patients heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the
GJB2 gene.
Results: The 35delG mutation was found in 42.2% of the chromosomes in 45 familial cases of prelingual, nonsyndromic deafness (18 homozygotes and 2 heterozygotes) and in 30.6% of the chromosomes in 165 sporadic cases (45 homozygotes and 11 heterozygotes). Direct genomic sequencing in heterozygous patients revealed the L90P (2 alleles), W24X (2 alleles), R184P (2 alleles), and 291insA (1 allele) mutations.
Conclusion: Mutations in the
GJB2 gene are responsible for about one third of prelingual, sensorineural, nonsyndromic deafness in the Greek population, and allele-specific PCR is an easy screening method for the common 35delG mutation.
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