Assessment of ultrasonographic features of polycystic ovaries is associated with modest levels of inter-observer agreement

<p>Abstract</p> <p>Background</p> <p>There is growing acceptance that polycystic ovaries are an important marker of polycystic ovary syndrome (PCOS) despite significant variability when making the ultrasound diagnosis. To better understand the nature of this variability, we proposed to evaluate the level of inter-observer agreement when identifying and quantifying individual ultrasonographic features of polycystic ovaries.</p> <p>Methods</p> <p>Digital recordings of transvaginal ultrasound scans performed in thirty women with PCOS were assessed by four observers with training in Radiology or Reproductive Endocrinology. Observers evaluated the scans for: 1) number of follicles ≥ 2 mm per ovary, 2) largest follicle diameter, 3) ovarian volume, 4) follicle distribution pattern and 5) presence of a corpus luteum (CL). Lin's concordance correlation coefficients and kappa statistics for multiple raters were used to assess inter-observer agreement.</p> <p>Results</p> <p>Agreement between observers ranged from 0.08 to 0.63 for follicle counts, 0.27 to 0.88 for largest follicle diameter, 0.63 to 0.86 for ovarian volume, 0.51 to 0.76 for follicle distribution pattern and 0.76 to 0.90 for presence of a CL. Overall, reproductive endocrinologists demonstrated better agreement when evaluating ultrasonographic features of polycystic ovaries compared to radiologists (0.71 versus 0.53; p = 0.04).</p> <p>Conclusion</p> <p>Inter-observer agreement for assessing ultrasonographic features of polycystic ovaries was moderate to poor. These findings support the need for standardized training modules to characterize polycystic ovarian morphology on ultrasonography.</p

Health, education, and social care provision after diagnosis of childhood visual disability

Aim: To investigate the health, education, and social care provision for children newly diagnosed with visual disability.Method: This was a national prospective study, the British Childhood Visual Impairment and Blindness Study 2 (BCVIS2), ascertaining new diagnoses of visual impairment or severe visual impairment and blindness (SVIBL), or equivalent vi-sion. Data collection was performed by managing clinicians up to 1-year follow-up, and included health and developmental needs, and health, education, and social care provision.Results: BCVIS2 identified 784 children newly diagnosed with visual impairment/SVIBL (313 with visual impairment, 471 with SVIBL). Most children had associated systemic disorders (559 [71%], 167 [54%] with visual impairment, and 392 [84%] with SVIBL). Care from multidisciplinary teams was provided for 549 children (70%). Two-thirds (515) had not received an Education, Health, and Care Plan (EHCP). Fewer children with visual impairment had seen a specialist teacher (SVIBL 35%, visual impairment 28%, χ2p < 0.001), or had an EHCP (11% vs 7%, χ2p < 0 . 01).Interpretation: Families need additional support from managing clinicians to access recommended complex interventions such as the use of multidisciplinary teams and educational support. This need is pressing, as the population of children with visual impairment/SVIBL is expected to grow in size and complexity.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

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