The unpredictable clinical course of an abdominal cyst diagnosed in the prenatal period: A case report.

Enteric duplication cysts are rare congenital malformations of the gastrointestinal tract. Prenatal diagnosis can be achieved through ultrasound, which may reveal a cystic mass, though the differential diagnosis is broad. We report a case in which the prenatal ultrasound detection of an abdominal cystic mass prompted postnatal magnetic resonance imaging, leading to the diagnosis of an enteric duplication cyst. At 6 weeks of age, the infant developed an obstruction of the small bowel, requiring urgent surgical intervention. This case underscores the difficulties in differentiating abdominal cysts prenatally. Thorough prenatal and neonatal follow-up is crucial, and postnatal magnetic resonance imaging is sometimes essential for accurate diagnosis. The clinical course can be unpredictable, and complications that may arise could necessitate urgent surgical treatment.

Ki67 as a prognostic marker in uterine leiomyosarcoma: A quantitative systematic review.

Ki67 labeling index (LI) has been proposed as a prognostic factor in uterine leiomyosarcoma (uLMS), although the evidence in this field is still unclear. We aimed to assess the prognostic value of ki67 LI in uLMS. A systematic review was performed by searching electronic databases from their inception to August 2020 for all studies assessing the prognostic value of ki67 LI in uLMS. Ki67 LI was assessed to the nearest 10% to define the most prognostically accurate threshold. Cox regression survival analysis with calculation of hazard ratio (HR) of death was performed; a p-value < 0.05 was considered significant. Ten studies were included in the qualitative review, out of which 6 were suitable for quantitative review. The absolute risk of death was 0.29 for a ki67 LI < 10%, remained stable at 0.49 in the 10%-39% LI range and increased to 0.65 for a LI ≥ 40%. On univariate analysis, both 10% and 40% thresholds were significantly associated with the hazard of death, with HRs of 3.349 (p = 0.007) and 3.172 (p = 0.001), respectively. On multivariate analysis, only the 10% threshold was significantly associated with the hazard of death (HR = 2.712; p = 0.028). In conclusion, a Ki67 LI ≥ 10% is a significant prognostic factor in uLMS.

Omphalocele Secondary to Spontaneous Rupture of Allantoic Cyst in the Third Trimester of Pregnancy.

OBJECTIVE: We report the first case in which the onset of omphalocele was after the spontaneous rupture of an allantoic cyst. We hypothesize a causal link between the spontaneous rupture of the cyst and the herniation of the viscera. Case Presentation. A 36-year-old woman was diagnosed with an allantoic cyst during the first trimester. The allantoic cyst underwent spontaneous rupture during the 32nd week of gestation, and an omphalocele developed secondary to the cyst's rupture. Two days after birth, the peritoneum covering intestinal loops broke spontaneously and the newborn underwent successful urgent surgery. CONCLUSIONS: This case may suggest that the relative benignity of the allantoid cysts may recommend a close ultrasound follow-up in order to identify the onset of any complications, as a late third trimester onset of omphalocele. Prenatal diagnosis of such complications may allow multidisciplinary management of the pregnancy with planned cesarean section, prenatal pediatric surgery consultation, and neonatal surgery.

Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report.

BACKGROUND: Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. CASE PRESENTATION: A G1 at 21w + 3d came to our institution for the second-trimester ultrasound and a skeletal dysplasia with prevalent involvement of limb's rhizomelic tracts was suspected. Amniocentesis followed by CGH-array was performed, with normal results. An examination by NGS of some genes associated with skeletal dysplasias showed a novel pathogenic variant of the ACAN gene: c.2677delG. CONCLUSION: Sequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date. In this case report, we describe the first prenatal diagnosis of skeletal dysplasia associated with a pathogenic variant of ACAN.

Gardnerella vaginalis and Trichomonas vaginalis infections as risk factors for persistence and progression of low-grade precancerous cervical lesions in HIV-1 positive women.

Gardnerella vaginalis (GV) and Trichomonas vaginalis (TV) infections have been proposed as risk factors for persistence and/or progression of low-grade cervical precancerous lesions (CIN1/L-SIL). In patients with Human Immunodeficiency Virus (HIV), who have an increased baseline risk of CIN1/L-SIL progression, the role of GV and TV is undefined. We aimed to investigate the prognostic impact of GV and TV infections on CIN1/L-SIL in HIV-positive women. HIV-1-positive women with L-SIL were retrospectively included. The risk of persistence or progression in the case of any infection (primary outcome), only GV (GV+), only TV (TV+), or GV and TV coinfection (secondary outcomes) was calculated compared to women with no GV or TV infections (NI), by using relative risk (RR) and multivariate logistic regression, with a significant p-value>0.05;. One hundred and ninety-two patients were included (18.2 %GV+, 15.6 %TV+, 5.2 % coinfection, 60.9 %NI); 58 CIN1/L-SIL showed persistence and 46 progression. RR for persistence/progression of CIN1/L-SIL in the case of any infection was 1.56 (1.21-2.01; p = 0.0006) compared to NI. RR for persistence alone was 1.91 (1.25-2.09; p = 0.0026) in GV+, 1.2 (0.63-2.3; p = 0.5736) in TV+, and 2.06 (1.09-3.9; p = 0.0254) in coinfection. RR for progression alone was 1.94 (1.06-3.4; p = 0.0311) in GV+, 2.14 (1.25-3.67; p = 0.0058) in TV+, and 2.73 (1.39-5.37; p = 0.0036) in coinfection. On multivariate analysis, the presence of any infection was significantly associated with persistence/progression (p = 0.002), GV + with persistence (p = 0.019) and TV + with progression (p = 0.016). In conclusion, GV infection is a risk factor for persistence of CIN1/L-SIL in HIV-positive women, while TV infection is a risk factor for progression. Women with these infections may require a closer and more careful follow-up of CIN1/L-SIL.