Human amniotic fluid‐derived mesenchymal stromal cells (hAMSC) have become one of the main cell populations used in regenerative medicine and for the study of various clinical disorders. These cells have a great capacity for proliferation and differentiation and do not form teratomas when transplanted into animal models, and their stemness seems to be between embryonic cells and adult mesenchymal cells. Before their use in cell therapy, they must be cultured and expanded in vitro, but the effect this process has on their fitness, a determining factor for the success or failure of cell therapy, is unknown. We undertook a follow‐up of gene and microRNAs (miRNAs) expression using microarray of hAMSC for the first 15 passages. Significant changes were noted in the expression of various mRNAs and miRNAs, particularly down‐regulation of TP53, increased expression of hsa‐miR‐125a and up‐regulation of CDKN2D. The variations in TP53 and hsa‐miR‐125a may act as an indicator of the stemness of the hAMSC, whereas CDKN2D may indicate the begging of early senescence process in a p53‐independent mechanism. The genes described in this study will help evaluate the fitness of hAMSC, thus guaranteeing their biological quality for use in regenerative medicine.
Neu–Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu–Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the PSAT1 gene, associated with NLS (Neu–Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time.
29 September 2017 in Journal of Perinatal Medicine
Objective: The main objective of this study was to review the available scientific evidence about mid-term neurological outcomes in twins after laser therapy for twin-to-twin transfusion syndrome (TTTS). Methods: A systematic review of studies on neurodevelopmental outcomes (cognition, motor development, communication skills and cerebral palsy) of twins after laser therapy for TTTS was conducted. Outcomes at 24 months of age and the use of validated scales for assessment were the selected criteria. Electronic and manual research identified 25 studies, and nine of them were eligible for the review. Results: The global mean rate of neurological injury in twins treated with laser was 14.07%. The mean rate of cognitive impairment was 8.41%, 11.14% for motor delay, 16.5% for communication delay and 5.73% for cerebral palsy. These rates were higher than the results found in dichorionic twins, but lower than the results found in twins treated with amnio-reductions or conservative management. Conclusion: Laser therapy is associated with a lower rate of neurological injury at 24 months of age compared to other therapeutic techniques. This tendency was also observed with specific incidences regarding cognition, motor skills and cerebral palsy.
18 February 2015 in Journal of Obstetrics and Gynaecology
There are circumstances in the management of thromboembolic events during pregnancy when anticoagulant therapy is either contraindicated or not advisable, such as when pulmonary embolism (PE) or deep venous thrombosis is diagnosed close to term, given the risk of bleeding during delivery. In these cases, the thromboembolic risk can be controlled using temporary inferior vena cava filters (T-IVCFs). We present the case of a pregnant woman with thrombophilia who remained at rest for eight weeks due to an amniotic prolapse and for whom the placement of a T-IVCF was decided at 32 weeks' gestation after anticoagulant therapy had failed. An emergency caesarean section was performed at 33 weeks' gestation due to placental abruption following the spontaneous onset of preterm labour. The risk of bleeding during delivery when high doses of heparin are used, and the risk of PE when the heparin dose is decreased, needs to be evaluated versus the risks related to T-IVCF placement procedure and, as such, a review of the published experience in this field is warranted. We have concluded that T-IVCFs can be a safe alternative treatment for pregnant women in whom anticoagulation therapy is either contraindicated or not advisable.
Thrombotic thrombocytopenic purpura is a type of occlusive thrombotic microangiopathy that is not specific to pregnancy but occurs with an increased frequency during it. Prognosis of thrombotic thrombocytopenic purpura greatly depends on early diagnosis and treatment. As delivery does not generally cause resolution of thrombotic thrombocytopenic purpura, pregnancy termination is not initially considered, especially under 34 weeks, although it may be required under some conditions such as preeclampsia. Plasma therapy, including plasmapheresis, and steroids are used for treatment. In the event of an unfavorable course leading to cardiopulmonary arrest, effectiveness of cardiopulmonary resuscitation measures greatly depends on an early start of such measures. In pregnant patients, not only rapid implementation of these measures is required, but a decision should also be taken about the convenience of fetal delivery through a perimortem Cesarean section.