Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.

We describe a case of collodion baby diagnosed prenatally by ultrasound. Classic signs (ectropion, flattened nose, and eclabion) were detected on routine ultrasound at 21 weeks of gestation. At birth, the presence of collodion membrane was confirmed and subsequently, the diagnosis of an autosomal recessive congenital ichthyosis due to compound heterozygosity of the TGM1 gene was made.

First trimester prenatal diagnosis of a severe tricuspid valve regurgitation and pulmonary valve atresia.

Early diagnosis of congenital heart defect (CHD) increased in the last two decades, following technological evolution. A recent meta-analysis (Yu, 2020), on diagnostic accuracy in ultrasound detection of major CHD in the first trimester of pregnancy, reported an overall sensitivity of 75%. Ultrasound imaging of this case refers to a tricuspid valve dysplasia with right atriomegaly and pulmonary valve atresia diagnosed in a 13-week gestational-age fetus with low risk for chromosomal abnormalities. To our knowledge, this is the first case describing such features in the first trimester. We believe the precocity and severity of onset make this a case of diagnostic interest.

Clinical implementation of pre-eclampsia screening in the first trimester of pregnancy.

OBJECTIVES: Early identification of preeclampia in the first trimester of pregnancy represents one of the major challenges of modern fetal medicine. The primary aim of our study was to evaluate the effectiveness of implementation of preeclampsia screening in Tuscany, Italy. The secondary aim was to evaluate pregnancy/neonatal outcome in the positive screening group compared with the negative screening group. STUDY DESIGN: Retrospective study including singleton pregnancies undergoing screening for preeclampsia. The screening test was a multiparametric algorithm based on maternal history, biochemical and biophysical parameters (Fetal Medicine Foundation algorithm). MAIN OUTCOME MEASURES: The overall performance of the test was calculated, in terms of sensitivity, specificity, positive and negative predictive value and in relation to gestational age at onset (primary aim). Pregnancy and neonatal outcomes were then compared between the positive and negative population at preeclampsia screening test (secondary aim). RESULTS: Of the 5719 patients enrolled, 4797 were included in the analysis. The sensitivity for early onset of preeclampsia (≤34 weeks) was 0.75 (CI:0.41-0.93) and specificity 0.93 (CI:0.92-0.94) for a false positive rate of 7%. The population that tested positive for preeclampsia screening showed a higher incidence of deliveries at lower gestational ages (p < 0.001), preeclampsia onset despite prophylaxis with aspirin (p < 0.001), emergency caesarean section (p < 0.001), low fetal birth weight (p < 0.001) and neonatal admission in intensive care unit (p < 0.001). CONCLUSIONS: Our data confirm the validity of first trimester screening test in identifying a category of patients at greatest risk for preeclampsia even in the presence of a post-test pharmacological prophylaxis.

HPV-related cervical disease and oropharyngeal cancer.

Human papillomavirus (HPV), especially HPV 16, is associated with the development of both cervical and oral cancer. We show the case of a woman affected by HPV-related cervical disease and oropharyngeal squamous cell carcinoma (OPSCC). A 41-year-old woman arrived at our Colposcopy Center following an abnormal Pap smear result (ASC-H) and a diagnosis of moderate cervical dysplasia obtained by a cervical biopsy. She underwent a colposcopy that showed a cervical abnormal transformation zone grade 2. A laser conization was performed in November 2010. Histology reported a moderate/severe dysplasia. The cone resection margins were free. Follow-up colposcopy and cytology were negative. The HPV testing showed an infection by HPV 16. In October 2012, the patient presented to the Head-Neck ER after episodes of hemoptysis; a lesion was found in the left tonsillar lodge. A biopsy was performed with a result of squamous cell carcinoma with low-grade differentiation. The HPV testing detected a high-risk HPV and the immunohistochemical analysis was positive for p16. She was treated by chemotherapy and brachytherapy. She was followed at the head-neck center with monthly visits with oral visual inspection that showed complete absence of mucosal abnormalities. HPV-related OPSCC and cervical precancerous/cancerous lesions have significant similarities in terms of pathogenesis. They are both caused largely by HPV 16, as in the present case. In conclusion, because of this association found in literature and in our case, we think that women with HPV cervical lesions should have regular surveillance for oropharyngeal cancer, whereas women with OPSCC should be encouraged to have diligent cervical screening.

CO2 laser total superficial vulvectomy: an outpatient treatment for wide multifocal vulvar intraepithelial neoplasia grade 3.

The ideal treatment of large multifocal vulvar intraepithelial neoplasia grade 3 (VIN 3) in young patients is still debated. The goal is to prevent development of invasive vulvar cancer while preserving normal vulvar anatomy and function. The authors describe the case of a 37-year-old woman affected by a biopsy-proven VIN 3 involving the entire external genitalia. A total superficial vulvectomy was carried out in 2 closer sessions by CO(2) laser used in an excisional way. Both procedures were performed in an outpatient setting with the patient under local anesthesia and without suturing stitches or skin flaps. Definitive pathologic analysis confirmed VIN 3 with free margins. No intraoperative and postoperative complications were documented. Functional and anatomic outcomes were optimal, and no relapse occurred after 12 months of follow-up. Use of CO(2) laser total superficial vulvectomy shows promise of a safe and adequate treatment in selected young patients with VIN 3 involving the entire external genitalia.

Carbon-dioxide laser vaporization of the Bartholin gland cyst: a retrospective analysis on 200 cases.

STUDY OBJECTIVE: To evaluate the effectiveness of carbon-dioxide laser vaporization as definitive treatment for Bartholin gland cyst. DESIGN: Retrospective analysis (Canadian Task Force classification II-3). SETTING: University teaching hospital. PATIENTS: A consecutive series of 200 patients with monolateral or bilateral Bartholin gland cyst. INTERVENTIONS: A standardized technique of cyst vaporization performed by carbon-dioxide laser in outpatient setting and local anesthesia. MEASUREMENTS AND MAIN RESULTS: Records of all patients were reviewed for anamnestic information, anatomic parameters, intraoperative and postoperative outcomes, and follow-up data. Seven patients having bilateral cyst were treated in a single session; 207 procedures were performed. The cyst mean size was 6.3 +/- 2.3 cm (95% CI 5.93-6.67). All treatments were completed in outpatient regimen and local anesthesia with a median operative time of 17 minutes (range: 7-45). Three (1.5%) cases of intraoperative major bleeding were observed. The cure rate of a single laser treatment was 95.7%. The 9 patients with recurrent disease observed during follow-up underwent carbon-dioxide laser reintervention by the same therapeutic strategy with a 100% cure rate after 2 or 3 treatments. CONCLUSION: Carbon-dioxide laser vaporization of Bartholin gland cyst represents a safe and effective procedure with complete healing and positive follow-up outcomes. Further randomized trials should be conducted to confirm these findings and to establish the best surgical strategy.

CO2 laser cylindrical excision or standard re-conization for persistent-recurrent high-grade cervical intraepithelial neoplasia (HG-CIN) in women of fertile age.

AIM: To investigate the therapeutic efficacy of cylindrical or cone-shaped excision performed by laser CO2 in the conservative management of persistent-recurrent high-grade cervical intraepithelial neoplasia (HG-CIN) in women of fertile age. PATIENTS AND METHODS: Ninety-four premenopausal patients with persistent-recurrent HG-CIN had undergone re-conization or cylindrical excision according to the time of reappearance of the disease. The length of the procedures, intra- and postoperative complications, height of the excised specimens, final histological findings and follow-up data were retrospectively evaluated. RESULTS: Fifty-five (58.5%) persistent and 39 (41.5%) recurrent cases had undergone cylindrical excision and standard re-conization respectively. All the treatments were successfully performed in an out-patient setting under local anesthesia with no differences in term of operative time, height of removed specimens, intra- and postoperative complications between the two groups. Definitive histology confirmed HG-CIN in 95.7% of the cases and FIGO Stage Ia1 cervical cancer (negative lymph vascular space involvement, LVSI) in 4.3% of the cases. The endocervical margins were involved in 3.6% of the cylindrical (persistent) and in 17.9% of the cone-shaped (recurrent) specimens (p = 0.03). The overall cure rate after a median follow-up time of 54 months (range 10-196) was 91.5%. A third excisional procedure was performed in 8 cases of persistent-recurrent HG-CIN with a disease-free subsequent follow-up of 38 months (range 6-108). CONCLUSION: Cylindrical or conical re-excision performed by CO2 laser according to the time of reappearance of the disease seems to be a promising conservative approach for persistent-recurrent HG-CIN even though further randomised prospective studies are needed to confirm the long-term efficacy and reproductive outcomes.