Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo”

The incidence of multiple pregnancy has increased, particularly because of the advances in assisted reproductive technologies. Multiple gestations are high risk pregnancies, especially the monochorionic ones. Two/thirds of initially twin pregnancies result in singles at birth, a condition defined as vanishing twin syndrome. The intrauterine death of one of the twins can cause direct fetal damage to the surviving one on several levels. The paper describes the case of a child born from twin pregnancy that was interrupted for one of the co-twins at early second trimester of gestation who presented with aplasia cutis congenita.

Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo”

The incidence of multiple pregnancy has increased, particularly because of the advances in assisted reproductive technologies. Multiple gestations are high risk pregnancies, especially the monochorionic ones. Two/thirds of initially twin pregnancies result in singles at birth, a condition defined as vanishing twin syndrome. The intrauterine death of one of the twins can cause direct fetal damage to the surviving one on several levels. The paper describes the case of a child born from twin pregnancy that was interrupted for one of the co-twins at early second trimester of gestation who presented with aplasia cutis congenita.

Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years

Background: In 2005, Network for Therapy in Rare Epilepsies (NETRE)—was initiated in order to share treatment experiences among clinicians in patients with rare epilepsies. Here we describe the structure of the rapidly growing NETRE and summarize some of the findings of the last 15 years.Methodology/Structure of NETRE: NETRE is organized in distinct groups (currently >270). Starting point is always a patient with a rare epilepsy/ epileptic disorder. This creates a new group, and next, a medical coordinator is appointed. The exchange of experiences is established using a data entry form, which the coordinator sends to colleagues. The primary aim is to exchange experiences (retrospectively, anonymously, MRI results also non-anonymously) of the epilepsy treatment as well as on clinical presentation and comorbidities NETRE is neither financed nor sponsored.Results: Some of the relevant results: (1) first description of FIRES as a new epilepsy syndrome and its further investigation, (2) in SCN2A, the assignment to gain- vs. loss-of-function mutations has a major impact on clinical decisions to use or avoid treatment with sodium channel blockers, (3) the important aspect of avoiding overtreatment in CDKL5 patients, due to loss of effects of anticonvulsants after 12 months, (4) pathognomonic MRI findings in FOXG1 patients, (5) the first description of pathognomonic chewing-induced seizures in SYNGAP1 patients, and the therapeutic effect of statins as anticonvulsant in these patients, (6) the phenomenon of another reflex epilepsy—bathing epilepsy associated with a SYN1 mutation. Of special interest is also a NETRE group following twins with genetic and/or structural epilepsies [including vanishing-twin-syndrome and twin-twin-transfusion syndrome) [= “Early Neuroimpaired Twin Entity” (ENITE)].Discussion and Perspective: NETRE enables clinicians to quickly exchange information on therapeutic experiences in rare diseases with colleagues at an international level. For both parents and clinicians/scientist this international exchange is both reassuring and helpful. In collaboration with other groups, personalized therapeutic approaches are sought, but the present limitations of currently available therapies are also highlighted. Presently, the PATRE Project (PATient based phenotyping and evaluation of therapy for Rare Epilepsies) is commencing, in which information on therapies will be obtained directly from patients and their caregivers.

Association Between First-Trimester Intrauterine Hematoma and Twin Pregnancy Outcomes: A Retrospective Cohort Study

Background: In recent years, we have found that first-trimester intrauterine hematoma in twin pregnancy has become increasingly common. The majority of studies on intrauterine hematoma have excluded twin pregnancies, while others did not differentiate between singleton and twin pregnancies. The associations in twin pregnancy are not clear. Therefore, the primary objective of our study was to examine the associations between first-trimester intrauterine hematoma and pregnancy outcomes in twin pregnancy. Material and methods: 1020 twin pregnancies in women who underwent a routine examination from January 2014 to December 2018 were enrolled. According to the presence or absence of intrauterine hematoma, we compared the baseline data and pregnancy outcomes between two groups. Multivariable logistic regression analysis was used to adjust for possible confounding factors. Results: A total of 209 patients (21.3%) developed intrauterine hematoma in the first trimester. First-trimester intrauterine hematoma was significantly associated with increased odds of miscarriage (adjusted odds ratio 14.27, 95% CI 8.25-24.70) and the vanishing twin syndrome (adjusted odds ratio 3.26, 95% CI 1.11-4.61). However, It did not have increased odds of adverse pregnancy outcomes after 20 Weeks of Gestation .In the final regression model analysis, the associations of hematoma with previous miscarriage history, accepted assisted conception, accompanying vaginal bleeding and miscarriage and vanishing twin syndrome were no longer significant. No association was found between hematoma size or the presence of vaginal bleeding and the risk of pregnancy loss or the vanishing twin syndrome before 20 weeks of gestation (P>0.05). Conclusion: In women with twin pregnancies, the presence of intrauterine hematoma in the first trimester was associated with one or both fetal losses before 20 weeks of gestation. However, chorionicity in twins, the conception method, the intrauterine hematoma size and the presence of vaginal bleeding were not independently associated with pregnancy loss.

Associated obstetric and perinatal determinants of vanishing twin pregnancies

A retrospective cohort study was carried out to reveal the characteristics and the perinatal outcome of vanishing twin pregnancies after spontaneous conception and after assisted reproductive techniques (ART). Vanishing twin (VT) syndrome, defined as the disappearance of one of two embryos with the survival of the co-twin during the first trimester, has been known for more than four decades. Due to the high and ever growing number of assisted reproductive treatments, the incidence of twin pregnancies and thus of vanishing twin syndrome is high. Recent studies have only examined vanishing twins after ART, but we hypothesized that there is a difference in perinatal outcomes between VT pregnancies, depending on the mode of conception, possibly reflecting the potential differences between underlying pathomechanisms. Our study consisted of two parts. We initiated the first study to compare obstetric and neonatal outcomes between the survivors of VT pregnancies and matched originally singleton control pregnancies, and a second study to evaluate whether VT pregnancies after spontaneous conception have a more adverse perinatal outcome than those conceived after assisted reproductive techniques. The study involved 316 VT pregnancies: 81 after in-vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) and 235 after spontaneous conception. Their data were derived from databases in a 22-year study period at the Department of Obstetrics and Gynecology, University of Szeged, Szeged, Hungary. Our results proved that the frequency of VT pregnancies was significantly higher after natural conception than after ART. A comparison of VT pregnancies demonstrated a higher rate in pregestational and gestational diabetes mellitus (GDM) in IVF/ICSI cases than in spontaneously conceived VT pregnancies. Significant differences in the prevalences of pregnancies and intrapartum complications, and adverse neonatal outcomes were observed in vanishing twins born after IVF/ICSI as compared with those born after implantation without medical assistance, suggesting that adverse perinatal outcome in IVF/ICSI VT pregnancies may be more related to ART or infertility and underlying chronic diseases. Previous induced abortion and second-trimester fetal loss indicated an increased risk of VT pregnancies, while GDM and prematurity of previous pregnancies predicted VT and growth retardation, particularly in the spontaneously conceived VT group. Diabetes is classically defined as being associated with a higher miscarriage rate. We observed a higher recurrence rate of gestational diabetes and increased incidence of pregestational and gestational diabetes mostly in IVF/ICSI VT pregnancies, suggesting that diabetes may share a pathomechanism with VT. After identifying the causes that lead to vanishing twin syndrome, GDM, chronic maternal diseases, advanced maternal age and placentation anomalies all represented independent risk factors for VT following IVF/ICSI. It can be established that the VT phenomenon was a major prognosticator of intrauterine growth restriction for the remaining fetus in VT pregnancies after ART. In conclusion, according to our results, VT is quite frequent. VT pregnancies had a lower prevalence and a worse perinatal outcome following IVF/ICSI as compared with those of their spontaneously conceived counterparts.