Prognostic implications of immunohistochemistry in patients with endometrial cancer.

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.

Reproductive outcome after in vitro fertilization in endometriosis - key factors and implications.

Endometriosis is a benign chronic disease with a major impact on a woman's quality of life, mainly due to painful physical symptoms. Endometriosis is also a common cause of infertility caused by low ovarian reserve, distorted pelvic anatomy, and severe local inflammation with a direct negative impact on the quality of oocytes, embryos, and endometrium. We conducted a retrospective study between January 2019 and December 2023, including women with a history of surgery for endometriosis who underwent in vitro fertilization (IVF) to achieve pregnancy. Their reproductive outcome was compared with a group of patients with documented tubal obstruction. The aim of our study was to identify the factors associated with a positive impact on the pregnancy rate, specifically age, anti-Mullerian hormone (AMH), ovarian stimulation protocol, and types of gonadotropins used. We analyzed a group of 175 patients with endometriosis compared with 189 patients with tubal obstruction. The average age was similar between the two groups but with a difference in the average AMH value (1.63 ± 1.09 ng/mL vs. 2.55 ± 1.67 ng/mL). The most utilized ovarian stimulation protocol in both groups was the short gonadotropin-releasing hormone (GnRH) antagonist. The clinical pregnancy rate was 27.2% in the endometriosis group and 54.7% in the tubal obstruction group. Our study revealed that treatment with corifollitropin alfa in the endometriosis group was associated with a higher clinical pregnancy rate. AMH and age proved to be significant independent factors for the reproductive outcome.

Case report: Tackling the complexities of an extremely premature newborn with intrauterine growth restriction and congenital metabolic disorders through a multidisciplinary approach.

Background and objectives: The premature birth of a newborn can present a complex challenge for healthcare providers, particularly in cases of extreme prematurity combined with intrauterine growth restriction and multiple metabolic deficiencies. In this report, we aim to shed light on the difficulties and considerations involved in the management of such a case. In addition, our study is aimed to raise awareness of the importance of a multidisciplinary team in managing an extreme premature case with multiple comorbidities. Case presentation and main findings: We present the case of a 28-week premature female newborn with very low birth weight (660 g, percentile <10%) and intrauterine growth restriction. She was born through emergency cesarean delivery due to maternal Hemolysis, Elevated Liver enzymes, and Low Platelet count (HELLP) syndrome and had a high-risk pregnancy (spontaneous twin pregnancy, with one fetus stopping development at 16 weeks and maternal hypertension). In the first hours of life, she presented with persistent hypoglycemia requiring progressive glucose supplementation up to 16 g/kg/day to maintain normal blood glucose levels. The baby then showed favorable progress. However, from days 24 to 25, hypoglycemia recurred and did not respond to glucose boluses or supplementation in both intravenous and oral feeds, leading to the suspicion of a congenital metabolic disorder. Endocrine and metabolic screenings led to suspicion of primary carnitine deficiency and a deficiency in hepatic form of carnitine-palmitoyltransferase type I (CPT1) on the second screening. Conclusion and clinical implications: The study highlights rare metabolic anomalies that can be due to both organ and system immaturity and delayed enteral feeding and excessive use of antibiotics. The clinical implications of this study emphasize the need for careful monitoring and comprehensive care of premature infants to prevent and manage potential metabolic abnormalities by neonatal metabolic screening.

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.

Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematologic disorders, and many other health issues. We present the case of a newborn with Down syndrome. The infant was a female, born at term through c-section. She was diagnosed before birth with a complex congenital malformation. In the first few days of life, the newborn was stable. In her 10th day of life, she started to show respiratory distress, persistent respiratory acidosis, and persistent severe hyponatremia, and required intubation and mechanical ventilation. Due to her rapid deterioration our team decided to do a screening for metabolic disorders. The screening was positive for heterozygous Duarte variant galactosemia. Further testing on possible metabolic and endocrinologic issues that can be associated with Down syndrome was performed, leading to hypoaldosteronism and hypothyroidism diagnoses. The case was challenging for our team because the infant also had multiple metabolic and hormonal deficiencies. Newborns with Down syndrome often require a multidisciplinary team, as besides congenital cardiac malformations they can have metabolic and hormonal deficiencies that can negatively impact their short- and long-term prognosis.

Ovarian Stimulation for In Vitro Fertilization and Reproductive Outcome after Surgical Treatment of Endometriosis Compared with Tubal Factor Infertility.

Endometriosis is a common cause of infertility among reproductive-age women. A low ovarian reserve is associated with the presence of endometriotic cysts, and this is accentuated even more after surgery. Patients with a history of endometrioma are a special category of poor ovarian reserve requiring in vitro fertilization (IVF). The aim of this retrospective study was to evaluate the characteristics and outcome of ovarian stimulation and embryo transfer in women with a history of ovarian surgery for endometrioma compared with a control group with tubal factor infertility. A total of 146 patients had previous laparoscopic cystectomy for endometrioma (group A) and their IVF results were compared with 136 patients with documented tubal obstruction (group B). In both groups, the most frequently used ovarian stimulation protocol was the short antagonist in 84.24% versus 80.88%. The number of stimulation days was between 6 and 15 days in the two groups with a mean value of 12.76 days in group A and 9.47 days in group B. The clinical pregnancy rate was 26.77% in the endometrioma group and 39.68% in the tubal obstruction group. Patients with a history of endometrioma are less likely to conceive than those with tubal obstruction despite having similar ovarian reserve and stimulation results.

Update on placenta accreta spectrum disorders by considering epidemiological factors, ultrasound diagnosis and pathological exam - literature review and authors' experience.

The aim of this paper was to correlate the circumstances that could lead to an abnormal invasion of placenta with the updated requirements to perform screening by ultrasound for all pregnant women prone to develop this pathology. To screen in the middle trimester of gestation for placenta accreta spectrum (PAS) disorders sets up an in-time referral opportunity for pregnant women prenatally detected with this pathology to a medical center with elevated level of expertise in the management of PAS disorders, able to act permanently by a multidisciplinary team (MDT) and to have access at medical resources including blood bank available. The literature review reveals especially useful data for clinical practice as regards novel explanations related to the etiology and physiopathology of PAS disorders, the composition of the MDT and the relevance of an indispensable pathologist physician at the time of Cesarean hysterectomy involved in the selection of best samples with the purpose of avoiding the possibility of losing undiagnosed cases with litigation implications. Conclusions show that the prenatal diagnosis of PAS disorders is possible so decreasing the risk of mortality and morbidity of pregnant women. Screening in the second trimester of pregnancy for PAS disorders becomes mandatory as the number of births by Cesarean section is expected to rise past three-fold until 2030. The professional expertise of the pathologist physician could be enriched by immunohistochemical staining in all suspected cases of placental invasion in myometrium wall.

Transvaginal Ultrasound vs. Magnetic Resonance Imaging (MRI) Value in Endometriosis Diagnosis.

(1) Background: Endometriosis is a widespread gynecological condition that causes chronic pelvic discomfort, dysmenorrhea, infertility, and impaired quality of life in women of reproductive age. Clinical examination, transvaginal ultrasonography (TVS), and magnetic resonance imaging (MRI) are significant preoperative non-invasive diagnosis procedures for the accurate assessment of endometriosis. Although TVS is used as the primary line for diagnosis, MRI is commonly utilized to achieve a better anatomical overview of the entire pelvic organs. The aim of this systematic review article is to thoroughly summarize the research on various endometriosis diagnosis methods that are less invasive. (2) Methods: To find relevant studies, we examined electronic databases, such as MEDLINE/PubMed, Cochrane, and Google Scholar, choosing 70 papers as references. (3) Results: The findings indicate that various approaches can contribute to diagnosis in different ways, depending on the type of endometriosis. For patients suspected of having deep pelvic endometriosis, transvaginal sonography should be the first line of diagnosis. Endometriosis cysts are better diagnosed with TVS, whereas torus, uterosacral ligaments, intestine, and bladder endometriosis lesions are best diagnosed using MRI. When it comes to detecting intestine or rectal nodules, as well as rectovaginal septum nodules, MRI should be the imaging tool of choice. (4) Conclusions: When diagnosing DE (deep infiltrative endometriosis), the examiner's experience is the most important criterion to consider. In the diagnosis of endometriosis, expert-guided TVS is more accurate than routine pelvic ultrasound, especially in the deep infiltrative form. For optimal treatment and surgical planning, accurate preoperative deep infiltrative endometriosis diagnosis is essential, especially because it requires a multidisciplinary approach.

Anatomical and functional changes in arteries of uterine circulation after modified laparoscopic transabdominal cerclage in pregnancy: A case report and review of the literature.

Modified laparoscopic transabdominal cerclage (LTAC) was developed as a safer approach for the treatment of cervical insufficiency in pregnancy, with the cerclage tape placed lateral to the uterine vessels. We describe and review the evolution of a woman who successfully underwent an LTAC at 12 weeks of gestation, whose fetus developed growth retardation after 32 weeks. Three-dimensional power Doppler reconstruction viewed both uterine arteries (UtAs) inside of the cerclage until the second trimester. Thereafter, the visualization of UtAs showed the development of a rich array of collateral vascularization, adaptation supported by the findings of low velocity and pulsatility of blood flow in the UtAs. The appearance of the UtAs varies throughout the gestation. There is a moderate variation of the shape and curvature that could result due to their elongation. Furthermore, the cervical length increased during gestation, from 20 to 30 mm. We speculate that this is a mechanical modeling during the late gestation. More studies are needed to understand the hemodynamic and mechanical effects as well as the impact on fetal growth and development of modified LTAC in women with a short cervix or cervical incompetence.

Vaginal epithelioid angiosarcoma: a rare case.

Epithelioid angiosarcoma of the vagina is a rare variant, easily misdiagnosed as other epithelial neoplasms. On Hematoxylin-Eosin-stained sections, the pathologist encounters sheets of large, mildly to moderately pleomorphic epithelioid cells, with abundant eosinophilic cytoplasm, vesicular nuclei, and prominent nucleoli. We report the case of a 22-year-old woman initially diagnosed with condiloma-like tumor of the left vaginal wall, which turned out positive at immunostaining for epithelioid angiosarcoma. In her case, after the failure of chemotherapy in controlling the relapse of the disease, the only treatment option was radical hysterectomy with bilateral salpingo-oophorectomy.

Diagnosis of endometriotic lesions by sonovaginography with ultrasound gel.

AIMS: The aim of the study was to evaluate the diagnostic ability of sonovaginography (SVG) with ultrasound gel in patients with endometriosis. MATERIAL AND METHODS: We conducted a multicentre prospective study, which included 193 patients with symptoms highly suggestive for endometriosis. All patients were investigated by transvaginal sonography and SVG with gel and afterwards underwent laparoscopic surgery. For each category of endometriotic lesions investigated, we calculated and compared the sensitivity, specificity,  positive predictive value and negative predictive value of the imagisticinvestigations used. RESULTS: In the case of endometriotic lesions of the uterosacral ligaments, SVG with gel had a sensitivity of 78.5% and a specificity of 96% (p=ns). The lesions of the vagina and rectovaginal septum were diagnosed with a sensitivity of 79%, respectively 94% (p=ns), obtaining a specificity of 99%, respectively of 97% (p=0.007). The lesions of the Douglas pouch were identified with a sensitivity of 81% (p=0.015), and those of the rectosigmoid with a 94% sensitivity (p=0.010). We obtained lower sensitivity (67%) in detecting the lesions of the urinary bladder (p=ns). CONCLUSIONS: SGV with ultrasound gel represents a useful investigation tool for the evaluation of endometriotic lesions in the posterior pelvic compartment.