Robert Brawura-Biskupski-Samaha

Potential first trimester metabolomic biomarkers of abnormal birth weight in healthy pregnancies

Macrosomia and low birth weight (LBW) can be associated with pregnancy complications and may affect the long‐term health of the child. The aim of this study was to evaluate the metabolomic serum profiles of healthy pregnant women to identify early biomarkers of macrosomia and LBW and to understand mechanisms leading to abnormal fetal growth not related to mothers body mass index or presence of gestational diabetes.

First trimester maternal serum vitamin D and markers of preeclampsia

Abstract Objective: There is evidence that vitamin D deficiency is associated with preeclampsia. The aim of the study was to determine if maternal levels of vitamin D at 1st trimester were related to markers of preeclampsia. Material: Serum levels of 25-hydroxy-vitamin D (25OHD), PAPP-A, PlGF, uterine artery pulsatility index and mean arterial pressure were measured in 280 pregnant women. Results: Preeclampsia markers were not related to 25OHD concentration. Conclusion: First trimester maternal serum concentration of vitamin D does not seem to be connected with markers of preeclampsia.

Pregnancy after kidney and liver transplantation: its outcome and effect on the graft, mother, and neonate.

BACKGROUND The influence of pregnancy on graft function in patients after solid organ transplantation is still uncertain. MATERIAL AND METHODS Our study is based on a group of 78 cases after liver (LTR) and/or renal transplantation (RTR) with 91 deliveries in the past 12 years in the 1st Department of Obstetrics and Gynecology, Warsaw Medical University. We compared duration of pregnancy, mode of delivery, weight of neonates, and graft function. RESULTS Rate of preterm delivery was very high (74% RTR and 43% LTR). The average duration of pregnancy was shorter in the RTR than in the LTR group (34.7 vs. 36.8 p<0.001) with a high rate of cesarean sections (81.4% in RTR and 68.1% in LTR). Birth weight in LTR (2898 g) was higher than in RTR (2248 g) (p<0.0001). Currently, 29 RTR and 38 LTR have preserved graft function. Thus, graft survival in the study group is longer than in the general RTR or LTR population. CONCLUSIONS Pregnancy after kidney or liver transplantation does not seem to increase the risk of graft loss, but is associated with a higher risk of maternal and fetal complications. In our data these complications occur more often in the RTR group.

Autoimmune Lymphoproliferative Syndrome – Impaired Regulation of the Immune Response by Impaired Induction of Apoptosis

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disease hindering apoptosis of lymphocytes. It includes mutations in genes coding for various components of the apoptotic pathway: CD95 (ALPS 0 and ALPS Ia), CD178 (ALPS Ib) and caspase-10 (ALPS II). Moreover, patients with genetically inherited caspase-8 or other components of apoptosis-inducing pathway deficiencies (ALPS III) have been described recently. In addition, ALPS-like clinical patterns, including Dianzani’s autoimmune lymphoproliferative disease (DALD), were characterized. In this review, we summarize currently known types of ALPS and characterize their immunological and molecular background.

Sudden Fetal Hematologic Changes as a Complication of Amnioreduction in Twin-Twin Transfusion Syndrome

We present the first case of a monochorionic twin pregnancy in which sudden hematologic changes occurred as a complication of the amnioreduction procedure for twin-twin transfusion syndrome (TTTS). At 33 weeks of gestation, 4 days after the amnioreduction, the recipient developed severe anemia while the donor developed severe polycythemia. Postnatal placental examination revealed several arteriovenous and venoarterial anastomoses, a pale placental mass of the recipient and a congested and plethoric placental mass of the donor. We speculate on the pathophysiologic changes and potential deleterious effects provoked by the decompressive amnioreduction. Decompression of the placenta and anastomoses after the amnioreduction may have led to an acute blood shift from recipient to donor (thus also a reversal of feto-fetal transfusion), resulting in anemia in the recipient and polycythemia in the donor twin. In the past 15 years, 13 TTTS cases with late presentation were treated with amnioreduction. This is the first time we encountered this severe complication, yielding an incidence of 8%. Although the optimal treatment in TTTS with late presentation is not known, perinatologists should be aware that treatment with amnioreduction can lead to sudden hematologic changes.

Nuclear medicine in the treatment of neuroendocrine tumours—problems and perspectives

Neuroendocrine tumours (NETs) constitute a large group of neoplasms originating from neuroepithelial crest-derived pluripotent stem cells or differentiated endocrine cells. NET cells and their ancestors are characterised by the ability to take up and decarboxylate the amine precursors (APUD system), the production of several bioactive peptides and the demonstration of particular histopathological staining [1]. The majority of NETs are well differentiated, displaying relatively low proliferative activity. Their ability to produce and release biologically active substances (amines and neuropeptides) results in the appearance of characteristic clinical symptoms [2]. On the other hand, some poorly differentiated and highly malignant NET display very aggressive behaviour, presumably as a result of the overexpression of various cytokines, including transforming growth factor (TGF)-α, nerve growth factor (NGF) and vascular endothelial growth factor (VEGF). Owing to the widespread distribution of APUD cells, the primary NET foci may develop in almost every organ, including gastrointestinal and respiratory tracts, pancreas, adrenal, thyroid and parathyroid glands, thymus, etc. In addition to local infiltration, NET cells form metastases in distant organs at early stages of tumour development. Thus, a radical surgical treatment, which could be curative, is unfortunately impossible [2]. Therefore, NET management requires a multidisciplinary approach that involves nuclear medicine methods as a key constituent of diagnosis, providing data reflecting the biological status of the tumour cells. These methods offer an opportunity to analyse tumour metabolism, stage of differentiation, proliferation rate, expression of various receptors and radiotracer uptake and accumulation. These crucial parameters may be further used to select the most effective form of NET therapy, e.g. surgery, chemotherapy, immunomodulation, external radiotherapy or endoradiotherapy [3]. Since endoradiotherapy is aimed at both the primary tumour and distant metastatic foci, it may be useful either early after surgery, to eliminate occult disease, or in later stages to destroy disseminated neoplasm, with radiation delivery targeting tumour cells while ensuring relative sparing of normal tissue.