Genome-wide association studies (GWASs) have focused primarily on populations of European descent, but it is essential that diverse populations become better represented. Increasing diversity among ...study participants will advance our understanding of genetic architecture in all populations and ensure that genetic research is broadly applicable. To facilitate and promote research in multi-ancestry and admixed cohorts, we outline key methodological considerations and highlight opportunities, challenges, solutions, and areas in need of development. Despite the perception that analyzing genetic data from diverse populations is difficult, it is scientifically and ethically imperative, and there is an expanding analytical toolbox to do it well.
With increasing representation of global populations in genetic studies, there is an opportunity for advanced methods development and a need for consensus “best practices” for analyzing datasets. We provide background on the scientific and ethical importance of including underrepresented groups in genetics research and offer guidance for genome-wide analysis of ancestrally diverse study cohorts.
The success rate of in vitro fertilisation (IVF) treatment for couples with infertility remains low due to lack of a reliable tool in selecting euploid embryos for transfer. This study aims to ...compare the efficacy in embryo selection based on morphology alone compared with non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) and morphology in infertile women undergoing IVF.
This is a randomised double-blind controlled trial conducted in two tertiary assisted reproduction centres. A total of 500 infertile women will be recruited and undergo IVF as indicated. They will be randomly assigned on day 6 after oocyte retrieval into two groups: the intervention group using morphology and niPGT-A and the control group based on morphology alone. In the control group, blastocysts with the best quality morphology will be replaced first. In the intervention group, blastocysts with the best morphology and euploid result of spent culture medium will be replaced first. The primary outcome is a live birth per the first embryo transfer. The statistical analysis will be performed with the intention to treat and per protocol.
Ethics approval was sought from the institutional review board of the two participating units. All participants will provide written informed consent before joining the study. The results of the study will be submitted to scientific conferences and peer-reviewed journals.
NCT04474522.
4MOST Scientific Operations Walcher, C J; Banerji, M; Battistini, C ...
arXiv.org,
04/2019
Paper, Journal Article
Odprti dostop
The 4MOST instrument is a multi-object spectrograph that will address Galactic and extragalactic science cases simultaneously by observing targets from a large number of different surveys within each ...science exposure. This parallel mode of operation and the survey nature of 4MOST require some distinct 4MOST-specific operational features within the overall operations model of ESO. The main feature is that the 4MOST Consortium will deliver, not only the instrument, but also contractual services to the user community, which is why 4MOST is also described as a facility. This white paper concentrates on information particularly useful to answering the forthcoming Call for Letters of Intent.
Keratin expression in breast cancers Shao, Mu-Min; Chan, Siu Ki; Yu, Alex M. C. ...
Virchows Archiv : an international journal of pathology,
09/2012, Letnik:
461, Številka:
3
Journal Article
Recenzirano
Cytokeratin (CK) immunohistochemistry can play an important role in breast carcinoma evaluation. We evaluated the expression of a panel of commonly used CKs in a large cohort of breast cancers and ...assessed its correlation with other biomarkers and breast cancer subtypes. Expression of CK7, CK8, CK18 and CK19 was observed in more than 90 % of all breast carcinomas in this study, confirming their efficacy in immunohistochemical identification of breast cancer. A combination of CK8 and CK7 gave the highest sensitivity for detection of a minute number of breast cancer cells. Expression of other CKs, including CK5/6, CK14 and CK20, correlated positively with high tumour grade. The expression of CK5/6 and CK14 in a significant number of high-grade tumours raised concern regarding the use of absence of their expression to identify breast carcinoma. For identification of the basal subtype, CK5/6 gave a higher detection rate than CK14. CK20 expression was found more frequently than reported in previous studies, might constitute an indicator of poor prognosis and may be associated with the molecular apocrine subtype. This study highlights the diagnostic and prognostic relevance of the unique CK expression patterns in breast cancer.
During acute hyperglycaemia, gastric emptying is delayed and the compliance of the proximal stomach is increased significantly. It is not known whether the effect of hyperglycaemia on proximal ...gastric motor function in healthy volunteers results from endogenous hyperinsulinaemia. Therefore we studied the effects of acute hyperglycaemia and hyperinsulinaemia on proximal gastric function, measured using an electronic barostat. Eight healthy volunteers were studied on three separate occasions during: (a) normoglycaemia, (b) hyperglycaemic hyperinsulinaemic clamping, and (c) euglycaemic hyperinsulinaemic clamping. Gastric compliance was significantly (P<0.01) increased during hyperglycaemia (44+/-5 ml/mmHg), and also during hyperinsulinaemia (38+/-4 ml/mmHg), compared with during normoglycaemia (31+/-3 ml/mmHg). During pressure distension, sensations of fullness were greater during hyperglycaemia and during hyperinsulinaemia compared with controls. At a set pressure of minimal distension pressure +2 mmHg, the intrabag volume was significantly higher during hyperglycaemia (292+/-36 ml; P<0.05), but not during hyperinsulinaemia (161+/-35 ml), compared with during normoglycaemia (129+/-10 ml). Postprandial relaxation was significantly (P<0.01) decreased during hyperglycaemia (93+/-64 ml) and hyperinsulinaemia (101+/-64 ml) compared with normoglycaemia (224+/-56 ml). Thus not only hyperglycaemia, but also hyperinsulinaemia, influences proximal gastric compliance, postprandial relaxation and symptom perception.
Background and purpose
Emerging research suggests the use of self‐regulation (SR) for improving functional regain in patients post stroke. SR is proposed to produce an added effect to effective ...modified constraint‐induced movement therapy (mCIMT). This study aimed to examine the effect of a self‐regulated mCIMT programme (SR‐mCIMT) for functional regain in patients with sub‐acute stroke.
Methods
Eighty‐six patients completed the trial: SR‐mCIMT, n = 29; mCIMT, n = 31; or conventional functional rehabilitation, n = 26. All interventions were 2‐week therapist‐guided training. Outcome measurements, taken by a blinded assessor, examined arm function Action Research Arm Test (ARAT), Fugl‐Meyer Assessment (FMA), daily task performance Lawton Instrumental Activities of Daily Living Scale (Lawton IADL) and self‐perceived arm use in functional tasks Motor Activity Log (MAL).
Results
Significant differences were found with the SR‐mCIMT outperforming the other groups after the intervention (ARAT, P = 0.006; FMA, Lawton IADL and MAL, all Ps < 0.001). In terms of the carry‐over effect, the SR‐mCIMT group outperformed in the hand and coordination subscales of ARAT and FMA (P = 0.012–0.013) and the self‐perceived quality of arm use (P = 0.002).
Conclusion
A combination of SR and mCIMT could produce an added effect in functional regain in patients post stroke.
Observations indicate that nearly all galaxies contain supermassive black holes at their centers. When galaxies merge, their component black holes form SMBH binaries (SMBHBs), which emit ...low-frequency gravitational waves (GWs) that can be detected by pulsar timing arrays. We have searched the North American Nanohertz Observatory for Gravitational Waves 11 yr data set for GWs from individual SMBHBs in circular orbits. As we did not find strong evidence for GWs in our data, we placed 95% upper limits on the strength of GWs from such sources. At = 8 nHz, we placed a sky-averaged upper limit of h0 < 7.3(3) × 10−15. We also developed a technique to determine the significance of a particular signal in each pulsar using "dropout" parameters as a way of identifying spurious signals. From these upper limits, we ruled out SMBHBs emitting GWs with = 8 nHz within 120 Mpc for , and within 5.5 Gpc for at our most sensitive sky location. We also determined that there are no SMBHBs with emitting GWs with = 2.8-317.8 nHz in the Virgo Cluster. Finally, we compared our strain upper limits to simulated populations of SMBHBs, based on galaxies in the Two Micron All-Sky Survey and merger rates from the Illustris cosmological simulation project, and found that only 34 out of 75,000 realizations of the local universe contained a detectable source.
Oral microbes form a complex and dynamic biofilm community, which is subjected to daily host and environmental challenges. Dysbiosis of the oral biofilm is correlated with local and distal infections ...and postulating a baseline for the healthy core oral microbiota provides an opportunity to examine such shifts during the onset and recurrence of disease. Here we quantified the daily, weekly, and monthly variability of the oral microbiome by sequencing the largest oral microbiota time-series to date, covering multiple oral sites in ten healthy individuals. Temporal dynamics of salivary, dental, and tongue consortia were examined by high-throughput 16S rRNA gene sequencing over 90 days, with four individuals sampled additionally 1 year later. Distinct communities were observed between dental, tongue, and salivary samples, with high levels of similarity observed between the tongue and salivary communities. Twenty-six core OTUs that classified within
, and
genera were present in ≥95% samples and accounted for ~65% of the total sequence data. Phylogenetic diversity varied from person to person, but remained relatively stable within individuals over time compared to inter-individual variation. In contrast, the composition of rare microorganisms was highly variable over time, within most individuals. Using machine learning, an individual's oral microbial assemblage could be correctly assigned to them with 88-97% accuracy, depending on the sample site; 83% of samples taken a year after initial sampling could be confidently traced back to the source subject.
PDF
