Transvaginal Ultrasound as a First-Line Approach in Deep Endometriosis: A Pictorial Essay.

Endometriosis (EMS) is a benign condition characterized by a systemic inflammation that affects fertile women at reproductive age. Ultrasound became, in recent years, the method of choice for both effective diagnostic and preoperative planning. Therefore, accurate characterization and mapping of endometriotic lesions is imperative in such circumstances to enable optimal approach of treatment, whether surgical or non-surgical based on the severity of the findings. This pictorial essay outlines a practical approach to evaluating patients with deep endometriosis by means of transvaginal ultrasound. The technical aspects are in conjunction with both consensus of the International Deep Endometriosis Analysis (IDEA) group and the hands-on experience acquired through daily clinical practice.

Importance of studying primitive neuroectodermal tumors and extraosseous Ewings sarcoma of the vagina and vulva.

Primitive neuroectodermal tumor (PNT) and Ewing's sarcoma are rare, round-cell tumors, characterized by the presence of the t(11; 22)(q24; q12) chromosomal translocation. A review of the literature revealed only 38 previously reported cases of vulvar PNT and Ewing's sarcoma and 15 vaginal PNT and Ewing's sarcoma. Although rare, these types of tumors should be taken into consideration when making a differential diagnosis for vulvar or vaginal tumors. The currently available data is limited, and therefore, case reports are essential for improving knowledge and management of these types of extremely rare tumors. However, further molecular and histopathological studies are essential for an improved understanding of these conditions and for an early, correct diagnosis. Although the gathered and presented data from the present review are limited, the literature demonstrates that the outcome of these types of cancer are more favorable compared with outcomes observed for carcinomas in more typical locations.

In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.

Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in vitro fertilisation (IVF) cycle associated with preimplantation genetic testing for monogenic diseases (PGT-M) in a Romanian carrier couple for CDG type Ia with distinct mutations of the PMM2 gene. The embryonic biopsy was performed on day five of the blastocyst stage for six embryos. The amplification of the whole genome had been realized by using the PicoPLEX WGA kit. Using the Array Comparative Genomic Hybridisation technique, we detected both euploid and aneuploid embryos. The identification of the PMM2 mutation on exon 5 and exon 6 was performed for the euploid embryos through Sanger Sequencing with specific primers on ABI 3500. Of the six embryos tested, only three were euploid. One had compound heterozygosity and the remaining two were simple heterozygotes. Conclusion: PGT-M should be strongly considered for optimising embryo selection in partners with single-gene mutations in order to prevent transmission to the offspring.

A case report of placental mesenchymal dysplasia: A rare case of a genetically normal fetus with severe intrauterine growth restriction.

RATIONALE: We report a rare case of a pregnant woman with placental mesenchymal dysplasia (PMD) and intrauterine growth restriction (IUGR) with a genetically normal fetus. PATIENT CONCERNS: A 42-year-old woman Gravida I, Para I with pre-existent uncontrolled hypertension and uterine polyfibromatosis present at 30 weeks of gestation for diminished fetal activity during the last 2 days. DIAGNOSIS: Placental mesenchymal dysplasia associated with intrauterine growth restriction, hypertension, and uterine polyfibromatosis. INTERVENTION: A live male infant was delivered by emergency caesarean section. OUTCOMES: The infant, weighing 700 g, died 4 days after birth due to a massive intracerebral hemorrhage. LESSONS: A careful examination should be done at every ultrasound in case of a fetus with IUGR to exclude some rare cases of placental pathologies. PMD can be a rare cause of IUGR with a genetically normal fetus.

Spontaneous Pregnancy in Subsequent Cycle After Laparoscopic Cystectomy. Case Report.

Most women will experience a cyst on the ovaries at least once, and most are painless, cause no symptoms, and are discovered during a routine pelvic exam. Large cysts that can cause symptomatology or infertility problems occur in about 8% among women of reproductive age. The current case report comes to show that laparoscopic surgery is the key for persistent organic tumors of the ovary, after a complete diagnostic of the cyst; not the expectant management or hormonal therapy, but laparoscopic cystectomy after transvaginal punction and drainage of the fluid is minimal requiring as recovery timing, medical care period, low costs, and not the least, ovarian functionality, after suppressing ovulatory function.