Anti-FARP2 polyclonal antibody

Objective: We present prenatal diagnosis of terminal 2q deletion and distal 10q duplication of paternal origin in a fetus associated with increased nuchal translucency and abnormal maternal serum screening results. Case report: A 26-year-old woman who had experienced spontaneous abortion twice underwent amniocentesis at 16 weeks of gestation because of an increased nuchal translucency thickness of 3.5 mm at 12 weeks of gestation and abnormal maternal serum screening results of 2.573 multiples of the median (MoM) of free beta-human chorionic gonadotrophin (beta-hCG) and 1.536 MoM of pregnancy-associated plasma protein-A (PAPP-A) resulting in a trisomy 21 risk of 1:64. Amniocentesis revealed a derivative chromosome 2. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr [hg19] 2q37.3 (238,294,223-242,782,258) x 1, 10q24.31q26.3 (102,018,246-135,426,386) x 3. Cytogenetic analysis of parental bloods revealed a karyotype of 46,XX in the mother and a karyotype of 46,XY,t(2;10)(q37.3;q24.3) in the father. The fetal karyotype was 46,XX,der(2)t(2;10)(q37.3;q24.3)pat. The pregnancy was terminated at 20 weeks of gestation, and a malformed fetus was delivered with facial dysmorphism. Postnatal analysis of the cord blood confirmed the results of prenatal diagnosis. The fetus had a 4.693-Mb deletion of 2q37.3 encompassing the genes of HDAC4, KIF1A, PASK, HDLBP, FARP2 and D2HGDH, and a 33.34-Mb duplication of 10q24.31-q26.3 encompassing the gene of NF kappa B2. Conclusion: First-trimester ultrasound and maternal serum biochemistry screening may help to identify an unexpected unbalanced familial translocation at prenatal diagnosis. (C) 2020 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.

Background: An occluded lower limb arterial bypass is associated with poor prognosis for the limb. Currently, no risk assessment method to estimate the risk of early graft failure exists. Aim of this study was to investigate the effect of various potential factors on early graft failure of infrainguinal bypass surgery and to develop a risk-scoring model to predict it. Methods: A prospective observational clinical study was performed. One hundred infrainguinal bypass procedures (60 autologous and 40 synthetic grafts), throughout a 3-year period were included. Nearly, 84 patients suffered by chronic limb ischemia, whereas 16 by acute limb ischemia or popliteal aneurysm disease. Various possible factors including demographic data, atherosclerosis predisposing factors, and technical details of the procedure were examined as possible causes of early graft failure. Using a combination of univariable and multivariable analysis techniques, the most significant factors were extracted, and a simple predicting risk-scoring system of early graft failure was calculated. Results: The overall early graft failure rate was 14%. The factors related to it at a statistically significant level, 0.05, were the female gender, a bypass performed after a previous ipsilateral lower limb angioplasty, a redo procedure on the same limb, and a distal anastomosis at an inframalleolar level (pedal bypass). After internal validation, the FARP2-predicting scoring system was formed as following: Female gender 1 point (F), bypass after a previous Angioplasty 1 point (A), Redo bypass 1 point (R), and Pedal bypass 2 points (P2). An overall score equal or greater than 2, provided an early graft failure prediction with sensitivity of 100%, specificity 86%, positive predictive value 54%, and negative predictive value of 100% (area under the receiver operator characteristic curve: 0.959). Conclusions: FARP2 is a simple scoring system for predicting early graft failure after an infrainguinal bypass procedure. Further external validation in larger populations is needed.