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.

Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis.

OBJECTIVE: Prenatal diagnosis of the Ectrodactyly-Ectodermal dysplasia-clefting (EEC) syndrome has been based upon the detection of ectrodactyly, in association with facial clefting and/or positive family history. Our aim is to describe other ultrasonographic features indicating the presuntive diagnosis, regardless of genetic diagnosis, especially in cases of negative family history. MATERIALS AND METHODS: A case report and a review of the literature was assessed. RESULTS: Our case report showed a singleton foetus "lobster claw" deformities of hands and feet. Paternal history revealed bilateral agenesia of two fingers. Through literature, 15 case reports of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for our systematic review. The 33% of cases (5/15) had a familiar history of EEC, thus, we found one case of consanguinity of parents. Anomalies EEC-related were recognized in the 40% of cases (6/15). An association with genitourinary anomalies was found in 30% (5/15) of them. CONCLUSIONS: A strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes.

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.

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.

Impact of endometrial carcinoma histotype on the prognostic value of the TCGA molecular subgroups.

BACKGROUND: The Cancer Genome Atlas (TCGA) identified four prognostic subgroups of endometrial carcinoma: copy-number-low/p53-wild-type (p53wt), POLE-mutated/ultramutated (POLEmt), microsatellite-instability/hypermutated (MSI), and copy-number-high/p53-mutated (p53mt). However, it is still unclear if they may be integrated with the current histopathological prognostic factors, such as histotype. OBJECTIVE: To assess the impact of histotype on the prognostic value of the TCGA molecular subgroups of endometrial carcinoma. METHODS: A systematic review and meta-analysis was performed by searching 7 electronic databases from their inception to April 2019 for studies assessing prognosis in all TCGA subgroups of endometrial carcinoma. Pooled hazard ratio (HR) for overall survival (OS) was calculated in two different groups ("all-histotypes" and "endometrioid"), using p53wt subgroup as reference standard; HR for non-endometrioid histotypes was calculated indirectly. Disease-specific survival and progression-free survival were assessed as additional analyses. RESULTS: Six studies with 2818 patients were included. In the p53mt subgroup, pooled HRs for OS were 4.322 (all-histotypes), 2.505 (endometrioid), and 4.937 (non-endometrioid). In the MSI subgroup, pooled HRs were 1.965 (all-histotypes), 1.287 (endometrioid), and 6.361 (non-endometrioid). In the POLEmt subgroup, pooled HRs were 0.763 (all-histotypes), 0.481 (endometrioid), and 2.634 (non-endometrioid). Results of additional analyses were consistent for all subgroups except for non-endometrioid POLEmt carcinomas. CONCLUSION: Histotype of endometrial carcinoma shows a crucial prognostic value independently of the TCGA molecular subgroup, with non-endometrioid carcinomas having a worse prognosis in each TCGA subgroup. Histotype should be integrated with molecular characterization for the risk stratification of patients in the future.