Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome.

The ductus venosus (DV) is a shunt that allows the direct flow of well-oxygenated blood from the umbilical vein (UV) to the coronary and cerebral circulation through the foramen ovale. Its agenesis has been associated with chromosomal abnormalities and rare genetic syndromes, structural defects, intrauterine growth restriction (IUGR) and even antepartum fetal demise. Pallister-Killian Syndrome (PKS) is a rare sporadic disorder with specific tissue mosaic distribution of an extra 12p isochromosome (i(12p)). Its main clinical features are moderate to severe intellectual disability/neuromotor delay, skin pigmentation abnormalities, typical facial appearance, variable association with multiple congenital malformations and epilepsy. Though prenatal findings (including congenital diaphragmatic hernia, ventriculomegaly, congenital heart disease, polyhydramnios, and rhizomelic shortening) have been described in literature, prenatal diagnosis is difficult as there are no associated identification signs no distinctive or pathognomonic signs, and some of these malformations are hard to identify prenatally. The tissue mosaicism linked to this syndrome and the decrease of the abnormal clone carrier of the i(p12) after successive trypsinizations of cultured cells makes the diagnosis even more challenging. We present the case of a 27.5 weeks pregnant woman with a fetal ductus venosus agenesis (DVA) as the main guide marker. To our knowledge this is the first case published in literature reporting a DVA as a guide sign to diagnose a complex condition as Pallister-Killian syndrome. We also underscore the key role of new genetic techniques as microarrays to avoid misdiagnosis when only a subtle sonographic sign is present in complex conditions like this.

Non-obstetric traumatic vulvar hematoma: Conservative or surgical approach? A case report.

Non-obstetric vulvar hematomas are rare and few cases have been reported in the literature. There are no clinical guidelines for their management. In most cases they can be treated conservatively but in some cases surgical intervention will be necessary. We present the case of a patient with a traumatic vulvar hematoma who required surgical treatment; we also review the literature on this gynecological pathology. Our case highlights the importance of early surgical intervention to reduce associated morbidity and to minimize hospital stay.

Successful treatment of anti-NMDA receptor encephalitis with early teratoma removal and plasmapheresis: A case report.

RATIONALE: This report describes a Successful treatment of anti-NMDA receptor encephalitis with early teratoma removal and plasmapheresis. PATIENT CONCERNS: We present a 31-year-old Caucasian nulliparous patient who was admitted as an emergency with general illness status accompanied by holocranial cephalalgia and fever. DIAGNOSES: The previous symptoms were followed by disorientation, persecutory delusion, incoherent language, and tonic-clonic seizure. INTERVENTIONS: The patient was admitted in the intensive care unit (ICU) with Glasgow score 7. OUTCOMES: Most of complementary exams (brain CT, brain MRI, blood analysis, PCR for virus on CSF) were normal except CSF leucocytosis and hyperproteinorrhachia. An abdominopelvic ultrasound revealed a 5-cm solid-cystic tumor in the left adnexal region, suggestive of teratoma. At that stage, the possibility of autoimmune encephalitis was considered, and confirmed later. LESSONS: This disease can only be successfully treated with fast surgical intervention and an early implementation of immunosuppressive therapies. The optimal timing of initiation and duration of therapeutic plasma exchange necessary to achieve good outcomes in patients with NMDAR remains unknown. This case report intends to increase awareness about the importance of early surgical treatment and early implementation of this potentially life-saving therapy and of continuing the treatment until complete remission of symptoms.

Changes in the Management and Prognosis of Ovarian Cancer Due to the New FIGO and WHO Classifications: A Case Series Observational Descriptive Study. Seven Years of Follow-up.

OBJECTIVE: Ovarian cancer is the deadliest of gynecologic cancers. In recent years, International Federation of Gynecology and Obstetrics (FIGO) and the World Health Organization (WHO) classifications were revised. We compared the major changes between the classifications and examined the effects on the therapy and prognosis of the ovarian, fallopian tubes, and peritoneum cancer in our series according to both classifications. METHODS/MATERIALS: We performed an observational descriptive study of 210 patients who were diagnosed with a malignant ovarian tumor from 2010 to 2016. The accepted FIGO and WHO classifications at each point in time were registered. We reclassified both data, obtaining both classifications for each patient. The changes in the therapeutic management and prognosis were examined. RESULTS: In both FIGO classifications of our case series, most patients with ovarian cancer were in FIGO stage III. We found that 4.2% of the previous stage IIIC patients have changed to stage IIIA2 or stage IIIB, with better prognosis and survival rate. In the new WHO classification, the main change, in our case series, was the increase in the high-grade serous carcinoma percentage. According to the current recommendations, we observed 7.56% more patients in early ovarian cancer stages treated with platinum and taxane. In both early and advanced ovarian cancer group, high-grade serous carcinoma tumors were predominant. CONCLUSIONS: The newly created WHO and FIGO classifications have improved the ability to predict the prognosis and consequently to change the therapeutic managements of patients with ovarian cancer.