Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair

Cataloged from PDF version of article.Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10-8 mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de novo SNV rate is unknown. Methods: We performed deep whole-genome sequencing (more than 30-fold coverage per individual) of the whole-blood-derived DNA samples of a healthy monozygotic twin pair and their parents. We examined the genotypes of each individual simultaneously for each of the SNVs and discovered de novo SNVs regarding the timing of mutagenesis. Putative de novo SNVs were validated using Sanger-based capillary sequencing. Results: We conservatively characterised 23 de novo SNVs shared by the twin pair, 8 de novo SNVs specific to twin I and 1 de novo SNV specific to twin II. Based on the number of de novo SNVs validated by Sanger sequencing and the number of callable bases of each twin, we calculated the overall de novo SNV rate of 1.31×10-8 and 1.01×10-8 for twin I and twin II, respectively. Of these, rates of the early postzygotic de novo SNVs were estimated to be 0.34×10-8 for twin I and 0.04×10-8 for twin II. Conclusions: Early postzygotic mutations constitute a substantial proportion of de novo mutations in humans. Therefore, genome mosaicism resulting from early mitotic events during embryogenesis is common and could substantially contribute to the development of diseases

A Survey of Bayesian Statistical Approaches for Big Data

The modern era is characterised as an era of information or Big Data. This has motivated a huge literature on new methods for extracting information and insights from these data. A natural question is how these approaches differ from those that were available prior to the advent of Big Data. We present a review of published studies that present Bayesian statistical approaches specifically for Big Data and discuss the reported and perceived benefits of these approaches. We conclude by addressing the question of whether focusing only on improving computational algorithms and infrastructure will be enough to face the challenges of Big Data

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive web-based survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features

Guidelines for postoperative care in gynecologic/oncology surgery: Enhanced Recovery After Surgery (ERAS®) Society recommendations - Part II.

This article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text via the publisher's site.Published (Open Access

A new species of Scorzonera (Asteraceae) from Anatolia, Turkey

WOS: 000182917200007Scorzonera aytatchii sp. nov. is described from the Aydos Mountain (C4: Konya) in Turkey. It is related to S. rigida, from which it mainly differs in its hairy achene

A Comprehensive Review on Usage Fields of Social Networking Data

In this study, usage fields of social networking data are classified as a first time in the world literature and handled in 11 different titles in order to understand existing studies that use social data better and also creating new horizons for further studies. In this context, academic and sectoral studies that use social data are examined and important assessments are made for enlightening the future study fields. Finally, it is evaluated that this study will contribute to new projects which will be conducted by university and industry together and also utilizing from social media more

Attitudes of Turkish Medical and Law Students towards the Organ Donation

Background: Attitudes of medical and law personnel towards organ donation are very important

trial

Background: Cardioversion (CV), a painful procedure, requires sedation and analgesia. Although several sedation agents currently are in use for CV, data on age-specific efficacy and side effects of midazolam and propofol have been limited.Objectives: To compare the efficacy and side effects of midazolam and propofol in patients of two different age groups, younger than 65 years and 65 years and over, who were going through CV.Methods: Seventy consented patients with CV indications caused by atrial fibrillation were included in this clinical trial. The participants were placed into four groups by using a stratified randomization method: patients aged younger than 65 years who were receiving midazolam (n = 12) or propofol (n = 11) and patients 65 years and over who were receiving midazolam (n = 25) or propofol (n = 22). Medications were administered by slow intermittent bolus injections. During CV, time to reach Ramsay Sedation Scale level 5 (RSS-5; induction time); time to reach RSS-2 (recovery time); and side effects including desaturation, apnea, and changes in hemodynamic parameters were recorded by a person blinded to the patient treatment allocation.Results: Mean induction time was similar in all four groups. Mean recovery time (min +/- SD) was shorter in both propofol groups when compared with both midazolam groups: 18.8 (+/- 4.06) and 40.33 (+/- 20.8) in the group younger than 65 years and 18.2 ( +/- 5.12) and 54.2 (+/- 20.85) in the group 65 years or older, respectively (p < 0.001). Older participants in each medication group needed less medication than younger patients. There were no hemodynamic differences between the groups. Desaturation was higher in both midazolam groups as compared with individuals in the age-matched propofol groups (both p < 0.05). Patient reactions were less in propofol groups with similar joules during CV procedures than were those in the midazolam groups.Conclusions: Propofol appears to be a better choice for CV sedation in elders because of its short recovery time, fewer side effects, and its more comfortable sedative effect

Age effect on efficacy and side effects of two sedation and analgesia protocols on patients going through cardioversion: A randomized clinical trial

Background: Cardioversion (CV), a painful procedure, requires sedation and analgesia. Although several sedation agents currently are in use for CV, data on age-specific efficacy and side effects of midazolam and propofol have been limited.Objectives: To compare the efficacy and side effects of midazolam and propofol in patients of two different age groups, younger than 65 years and 65 years and over, who were going through CV.Methods: Seventy consented patients with CV indications caused by atrial fibrillation were included in this clinical trial. The participants were placed into four groups by using a stratified randomization method: patients aged younger than 65 years who were receiving midazolam (n = 12) or propofol (n = 11) and patients 65 years and over who were receiving midazolam (n = 25) or propofol (n = 22). Medications were administered by slow intermittent bolus injections. During CV, time to reach Ramsay Sedation Scale level 5 (RSS-5; induction time); time to reach RSS-2 (recovery time); and side effects including desaturation, apnea, and changes in hemodynamic parameters were recorded by a person blinded to the patient treatment allocation.Results: Mean induction time was similar in all four groups. Mean recovery time (min +/- SD) was shorter in both propofol groups when compared with both midazolam groups: 18.8 (+/- 4.06) and 40.33 (+/- 20.8) in the group younger than 65 years and 18.2 ( +/- 5.12) and 54.2 (+/- 20.85) in the group 65 years or older, respectively (p < 0.001). Older participants in each medication group needed less medication than younger patients. There were no hemodynamic differences between the groups. Desaturation was higher in both midazolam groups as compared with individuals in the age-matched propofol groups (both p < 0.05). Patient reactions were less in propofol groups with similar joules during CV procedures than were those in the midazolam groups.Conclusions: Propofol appears to be a better choice for CV sedation in elders because of its short recovery time, fewer side effects, and its more comfortable sedative effect