Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy. The extensive use of NIPT, as a screening method, has highlighted the limits of the technique, including false positive and negative results. Feto-placental mosaicism is a challenging biological issue and is the most frequent cause of false positive and negative results in NIPT screening, and of discrepancy between NIPT and invasive test results. We are reporting on two cases of feto-placental mosaicism of trisomy 21, both with a low-risk NIPT result, identified by ultrasound signs and a subsequent amniocentesis consistent with a trisomy 21. In both cases, after the pregnancy termination, cytogenetic and/or cytogenomic analyses were performed on the placenta and fetal tissues, showing in the first case a mosaicism of trisomy 21 in both the placenta and the fetus, but a mosaicism in the placenta and a complete trisomy 21 in the fetus in the second case. These cases emphasize the need for accurate and complete pre-test NIPT counselling, as well as to identify situations at risk for a possible false negative NIPT result, which may underestimate a potential pathological condition, such as feto-placental mosaicism or fetal trisomy. Post-mortem molecular autopsy may discriminate between placental, fetal and feto-placental mosaicism, and between complete or mosaic fetal chromosomal anomalies. A multidisciplinary approach in counselling, as well as in the interpretation of biological events, is essential for the clarification of complex cases, such as feto-placental mosaicisms

Supporting function calls within PELCR

In [M. Pedicini and F. Quaglia. A parallel implementation for optimal lambda-calculus reduction PPDP '00: Proceedings of the 2nd ACM SIGPLAN international conference on Principles and practice of declarative programming, pages 3-14, ACM, 2000, M. Pedicini and F. Quaglia. PELCR: Parallel environment for optimal lambda-calculus reduction. CoRR, cs.LO/0407055, accepted for publication on TOCL, ACM, 2005], PELCR has been introduced as an implementation derived from the Geometry of Interaction in order to perform virtual reduction on parallel/distributed computing systems. In this paper we provide an extension of PELCR with computational effects based on directed virtual reduction [V. Danos, M. Pedicini, and L. Regnier. Directed virtual reductions. In M. Bezem D. van Dalen, editor, LNCS 1258, pages 76-88. EACSL, Springer Verlag, 1997], namely a restriction of virtual reduction [V. Danos and L. Regnier. Local and asynchronous beta-reduction (an analysis of Girard's EX-formula). LICS, pages 296-306. IEEE Computer Society Press, 1993], which is a particular way to compute the Geometry of Interaction [J.-Y. Girard. Geometry of interaction 1: Interpretation of system F. In R. Ferro, et al. editors Logic Colloquium '88, pages 221-260. North-Holland, 1989] in analogy with Lamping's optimal reduction [J. Lamping. An algorithm for optimal lambda calculus reduction. In Proc. of 17th Annual ACM Symposium on Principles of Programming Languages. ACM, San Francisco, California, pages 16-30, 1990]. Moreover, the proposed solution preserves scalability of the parallelism arising from local and asynchronous reduction as studied in [M. Pedicini and F. Quaglia. PELCR: Parallel environment for optimal lambda-calculus reduction. CoRR, cs.LO/0407055, accepted for publication on TOCL, ACM, 2005]. © 2006 Elsevier B.V. All rights reserved

Gait Alterations in Adults after Ankle Fracture: A Systematic Review

none6(1) Background: Ankle fracture results in pain, swelling, stiffness and strength reduction, leading to an altered biomechanical behavior of the joint during the gait cycle. Nevertheless, a common pattern of kinematic alterations has still not been defined. To this end, we analyzed the literature on instrumental gait assessment after ankle fracture, and its correlation with evaluator based and patient-reported outcome measures. (2) Methods: We conducted a systematic search, according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines, of articles published from January 2000 to June 2021 in PubMed, Embase and PEDro on instrumental gait assessment after ankle fracture. (3) Results: Several changes in gait occur after ankle fracture, including a reduction in step length, swing time, single support time, stride length, cadence, speed and an earlier foot-off time in the affected side. Additionally, trunk movement symmetry (especially vertical) is significantly reduced after ankle fracture. The instrumental assessments correlate with different clinical outcome measures. (4) Conclusions: Instrumental gait assessment can provide an objective characterization of the gait alterations after ankle fracture. Such assessment is important not only in clinical practice to assess patients’ performance but also in clinical research as a reference point to evaluate existing or new rehabilitative interventions.noneMarta Mirando, Corrado Conti, Federica Zeni, Fabio Pedicini, Antonio Nardone, Chiara PaveseMirando, Marta; Conti, Corrado; Zeni, Federica; Pedicini, Fabio; Nardone, Antonio; Pavese, Chiar

Platelet-rich fibrin (PRF) in implants dentistry in combination with new bone regenerative flapless technique: Evolution of the technique and final results

Most common techniques for alveolar bone augmentation are guided bone regeneration (GBR) and autologous bone grafting. GBR studies demonstrated long-term reabsorption using heterologous bone graft. A general consensus has been achieved in implant surgery for a minimal amount of 2 mm of healthy bone around the implant. A current height loss of about 3-4 mm will result in proper deeper implant insertion when alveolar bone expansion is not planned because of the dome shape of the alveolar crest. To manage this situation a split crest technique has been proposed for alveolar bone expansion and the implants' insertion in one stage surgery. Platelet-rich fibrin (PRF) is a healing biomaterial with a great potential for bone and soft tissue regeneration without inflammatory reactions, and may be used alone or in combination with bone grafts, promoting hemostasis, bone growth, and maturation. The aim of this study was to demonstrate the clinical effectiveness of PRF combined with a new split crest flapless modified technique in 5 patients vs. 5 control patients. Ten patients with horizontal alveolar crests deficiency were treated in this study, divided into 2 groups: Group 1 (test) of 5 patients treated by the flapless split crest new procedure; Group 2 (control) of 5 patients treated by traditional technique with deeper insertion of smaller implants without split crest. The follow-up was performed with x-ray orthopantomography and intraoral radiographs at T0 (before surgery), T1 (operation time), T2 (3 months) and T3 (6 months) post-operation. All cases were successful; there were no problems at surgery and post-operative times. All implants succeeded osteointegration and all patients underwent uneventful prosthetic rehabilitation. Mean height bone loss was 1 mm, measured as bone-implant most coronal contact (Δ-BIC), and occurred at immediate T2 post-operative time (3 months). No alveolar bone height loss was detected at implant insertion time, which was instead identified in the control group because of deeper implant insertion. This modified split crest technique combined with PRF appears to be reliable, safe, and to improve the clinical outcome of patients with horizontal alveolar crests deficiency compared to traditional implanting techniques by avoiding alveolar height-loss related to deeper insertion of smaller implants

Platelet-rich fibrin (PRF) in implants dentistry in combination with new bone regenerative flapless technique: evolution of the technique and final results

Most common techniques for alveolar bone augmentation are guided bone regeneration (GBR) and autologous bone grafting. GBR studies demonstrated long-term reabsorption using heterologous bone graft. A general consensus has been achieved in implant surgery for a minimal amount of 2 mm of healthy bone around the implant