Prenatal Screening and Genetics

Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were more precisely observed

Tensile strength assay comparing the resistance between two different autologous platelet concentrates (leucocyte-platelet rich fibrin versus advanced-platelet rich fibrin): a pilot study

Background: Since the leucocyte-platelet rich fibrin (L-PRF) was published in 2001, many studies have been developed, analyzing its properties, and also verifying new possibilities to improve it. Thereby, it emerges the advanced-platelet rich fibrin (A-PRF) with a protocol that optimizes the properties obtained by the L-PRF. Nonetheless, there is a gap in the literature to landmark the evolutive process concerning the mechanical properties in specific the resistance to tensile strength which consequently may influence the time for membrane degradation. Thus, this study had the goal to compare the resistance to the traction of membranes produced with the original L-PRF and A-PRF protocols, being the first to this direct comparison. Findings: The harvest of blood from a healthy single person, with no history of anticoagulant usage. We performed the protocols described in the literature, within a total of 13 membranes produced for each protocol (n = 26). Afterward, the membranes were prepared and submitted to a traction test assessing the maximal and the average traction achieved for each membrane. The data were analyzed statistically using the unpaired t test. Regarding average traction, A-PRF obtained a value of 0.0288 N mm−2 and L-PRF 0.0192 N mm−2 (p < 0.05 using unpaired t test). For maximal traction, A-PRF obtained 0.0752 N mm−2 and L-PRF 0.0425 N mm−2 (p < 0.05 using unpaired t test). Conclusion: With this study, it was possible to conclude that indeed A-PRF has a significative higher maximal traction score and higher average traction compared to L-PRF, indicating that it had a higher resistance when two opposing forces are applied.info:eu-repo/semantics/publishedVersio

A multidisciplinary program of preparation for childbirth and motherhood: maternal anxiety and perinatal outcomes

Background: To study maternal anxiety and perinatal outcomes in pregnant women submitted to a Multidisciplinary Program for Childbirth and Motherhood Preparation (MPCM).Methods: This is a not randomized controlled trial on 67 nulliparous pregnant women divided into two groups according to participation (MPCM Group; n = 38) or not (Control Group; n = 29) in MPCM. the program consisted of 10 meetings (between the 18th and the 38th gestational week) during which educational, physiotherapeutic and interaction activities were developed. Anxiety was quantified at the beginning and at the end of the gestational period by the Trace-State Anxiety Inventory (STAI).Results: Initial maternal anxiety was equivalent between the groups. At the end of the gestational period, it was observed that anxiety levels increased in the Control Group and were maintained in the MPCM Group. A higher occurrence of vaginal deliveries (83.8%) and hospital discharge of three-day-older newborns (81.6%) as a result of MPCM was also significant. Levels of state-anxiety at the end of pregnancy showed a negative correlation with vaginal delivery, gestational age, birth weight and Apgar index at the first minute and positive correlation with the hospital period remaining of the newborns.Conclusion: in the study conditions, MPCM was associated with lower levels of maternal anxiety, a larger number of vaginal deliveries and shorter hospitalization time of newborns. It was not related to adverse perinatal outcomes.Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Univ Estadual Paulista, Botucatu Sch Med, Dept Neurol Psychol & Psychiat, Botucatu, SP, BrazilUniv Estadual Paulista, Botucatu Sch Med, Dept Gynecol & Obstet, Botucatu, SP, BrazilUniv Sagrado Coracao, Dept Hlth Sci, Physiotherapy Sch, Bauru, BrazilSão Paulo Fed Univ Unifesp, Dept Hlth Sci, Phys Therapy Program, Santos, BrazilSão Paulo Fed Univ Unifesp, Dept Hlth Sci, Phys Therapy Program, Santos, BrazilWeb of Scienc

Impairment experiences, identity and attitudes towards genetic screening : the views of people with Spinal Muscular Atrophy

Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications. This mixed methods study explores the attitudes of people with Spinal Muscular Atrophy (SMA) towards three different population-level genetic screening programmes for SMA: pre-conception, prenatal and newborn. Drawing on qualitative interviews (n= 15) and a survey (n=82), this study demonstrates that more severely affected individuals with early-onset symptoms (Type II SMA), are less likely to support screening and more likely to view SMA positively than those with milder, later onset and/or fluctuating symptoms (Types III/ IV SMA). Indeed, this clinically milder group were more likely to support all forms of screening and view SMA negatively. This paper highlights that screening is a complex issue for people with genetic conditions, and the nature of impairment experiences plays a critical role in shaping attitudes

Automated office blood pressure measurements in primary care are misleading in more than one third of treated hypertensives: The VALENTINE-Greece Home Blood Pressure Monitoring study

Abstract Background This study assessed the diagnostic reliability of automated office blood pressure (OBP) measurements in treated hypertensive patients in primary care by evaluating the prevalence of white coat hypertension (WCH) and masked uncontrolled hypertension (MUCH) phenomena. Methods Primary care physicians, nationwide in Greece, assessed consecutive hypertensive patients on stable treatment using OBP (1 visit, triplicate measurements) and home blood pressure (HBP) measurements (7 days, duplicate morning and evening measurements). All measurements were performed using validated automated devices with bluetooth capacity (Omron M7 Intelli-IT). Uncontrolled OBP was defined as ≥140/90 mmHg, and uncontrolled HBP was defined as ≥135/85 mmHg. Results A total of 790 patients recruited by 135 doctors were analyzed (age: 64.5 ± 14.4 years, diabetics: 21.4%, smokers: 20.6%, and average number of antihypertensive drugs: 1.6 ± 0.8). OBP (137.5 ± 9.4/84.3 ± 7.7 mmHg, systolic/diastolic) was higher than HBP (130.6 ± 11.2/79.9 ± 8 mmHg; difference 6.9 ± 11.6/4.4 ± 7.6 mmHg, p Conclusions In primary care, automated OBP measurements are misleading in approximately 40% of treated hypertensive patients. HBP monitoring is mandatory to avoid overtreatment of subjects with WCH phenomenon and prevent undertreatment and subsequent excess cardiovascular disease in MUCH

Lipid Classes and Fatty Acid Patterns are Altered in the Brain of γ-Synuclein Null Mutant Mice

The well-documented link between α-synuclein and the pathology of common human neurodegenerative diseases has increased attention to the synuclein protein family. The involvement of α-synuclein in lipid metabolism in both normal and diseased nervous system has been shown by many research groups. However, the possible involvement of γ-synuclein, a closely-related member of the synuclein family, in these processes has hardly been addressed. In this study, the effect of γ-synuclein deficiency on the lipid composition and fatty acid patterns of individual lipids from two brain regions has been studied using a mouse model. The level of phosphatidylserine (PtdSer) was increased in the midbrain whereas no changes in the relative proportions of membrane polar lipids were observed in the cortex of γ-synuclein-deficient compared to wild-type (WT) mice. In addition, higher levels of docosahexaenoic acid were found in PtdSer and phosphatidylethanolamine (PtdEtn) from the cerebral cortex of γ-synuclein null mutant mice. These findings show that γ-synuclein deficiency leads to alterations in the lipid profile in brain tissues and suggest that this protein, like α-synuclein, might affect neuronal function via modulation of lipid metabolism

Association of Vitamin D with periodontal disease: A narrative review

Purpose: To present a review of available literature on the association of vitamin D and periodontal disease. Materials and Methods: A thorough search of articles was carried out on the databases PUBMED and MEDLINE regarding vitamin D and periodontal disease. The selected literature included cross-sectional, case-control and prospective and retrospective cohort studies. The main aspects of the association evaluated were a) the association of 25(OH)D and 1,25(OH)2D3 with periodontal disease severity, periodontal disease progression and tooth loss, b) the effect of vitamin D supplementation on periodontal health and c) the association of vitamin D receptor polymorphisms with periodontal disease. A brief overview of the biological mechanisms linking periodontal disease with vitamin D was also included. Results and Conclusions: There is conflicting evidence regarding the effects of 25(OH)D on periodontal disease severity, progression and tooth loss, with some studies reporting beneficial effects of higher 25(OH)D serum concentrations on periodontal health and tooth retention, whereas others could not find such an association. Limited evidence also supports a positive association between 1,25(OH)2D3 and periodontal health as well as a trend towards better periodontal health with vitamin D supplementation. Finally, various vitamin D polymorphisms were associated with chronic and aggressive periodontitis, with different outcomes reported for the various ethnic populations assessed. © 2020, Quintessence Publishing Co., Ltd

PCR analysis is superior to histology for diagnosis of Whipple’s disease mimicking seronegative rheumatic diseases

Objectives: The diagnosis of Whipple's disease (WD) is commonly confirmed by histology demonstrating Periodic Acid Schiff (PAS)-positive macrophages in the duodenal mucosa. Analysis of intestinal tissue or other specimens using polymerase chain reaction (PCR) is a more sensitive method. However, the relevance of positive PCR findings is still controversial. Therefore, we evaluated the relevance of histology and PCR findings to establishing the diagnosis of WD in a series of WD patients initially presenting with suspected rheumatic diseases. Method: Between 2006 and 2014, 20 patients with seronegative rheumatic diseases tested positive for Tropheryma whipplei (Tw) by PCR and/or histology and were enrolled in a retrospective analysis of the diagnostic value of both procedures. Results: Seven of the 20 cases (35%) were diagnosed with classic' WD as indicated by PAS-positive macrophages. In the remaining 13 patients, the presence of Tw was detected by intestinal (n=10) or synovial PCR analysis (n=3). Two of the 20 patients (10%) with evidence of Tw did not respond to antibiotic therapy. They were not considered to suffer from WD. Therefore, relying only on histological findings of intestinal biopsies would have missed 11 (61%) of the 18 patients with WD in our cohort. In comparison, PCR of intestinal biopsies detected Tw-DNA in 14 (93%) of the 15 WD patients evaluated. Patients with a positive histology did not differ from PCR-positive patients with regard to sex, age, or duration of disease, but more often presented with gastrointestinal symptoms. Conclusions: A substantial number of WD patients present without typical intestinal histology findings. Additional PCR analysis of intestinal tissue or synovial fluid increased the sensitivity of the diagnostic evaluation and should be considered particularly in patients presenting with atypical seronegative rheumatic diseases and a high-risk profile for WD