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.

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.