Complications,risk factors,and patients-reported outcomes after skin-sparing mastectomy followed by breast reconstruction in women with BRCA mutations

Background: Women with a BRCA mutation have the option of undergoing prophylactic mastectomy and immediate breast reconstruction; however, the potential negative effects of reconstruction on women’s physical and psychological well-being are unclear. This study aimed to investigate complications, patient-reported pain, health-related quality-of-life (HRQoL) and satisfaction following reconstructive surgery at Oslo University Hospital between 2006 and 2013.

Methods: Data were collected retrospectively from the records of 238 patients. A cross-sectional survey was conducted to collect patient-reported HRQoL and satisfaction with outcome using the Short Form-12 questionnaires and Breast-Q. The self-administered Leeds assessment of neuropathic symptoms and signs was used to assess neuropathic pain.

Results: The majority of participants (89.5%) underwent implant-based breast reconstruction (IBBR); the remainder underwent autologous-tissue breast reconstruction (ATBR). Overall, 28.6% had complications within 30?days of surgery and 14.6% required resurgery because of complications. Women who underwent IBBR had a later onset of complications than those undergoing ATBR. Participants in the survey (n?=?175 of 219, response rate 79.9%) reported similar HRQoL to an age-matched general female population. Few (2.9%) reported neuropathic pain. Patients who underwent IBBR were significantly less satisfied with the reconstructed breast (p?=?.001) and overall outcome (p?=?.02) than those who underwent ATBR, but there were no significant differences in HRQoL scores between the two groups.

Conclusions: Overall, 28.6% of the women had complications within 30?days and 14.6% needed resurgery. Few had neuropathic pain. Women who underwent ATBR were more satisfied with the overall outcome than those who underwent IBBR.     

Dominant ARL3-related retinitis pigmentosa

Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys).

Methods: Clinical examination included optical coherence tomography, electroretinography, and ultra-wide field retinal imaging with autofluorescence. Retrospective data were collected from the registry of inherited retinal diseases at Oslo university hospital. DNA was analysed by whole-exome sequencing and Sanger sequencing. The ARL3 missense variant was visualized in a 3D-protein structure.

Results: The phenotype was non-syndromic retinitis pigmentosa with cataract associated with early onset of decreased central vision and central retinal thinning. Sanger sequencing confirmed the presence of a de novo ARL3 missense variant p.(Tyr90Cys) in the index patient and his affected son. We did not find any other cases with rare ARL3 variants in a cohort of 431 patients with retinitis pigmentosa-like disease. By visualizing Tyr90 in the 3D protein structure, it seems to play an important role in packing of the α/β structure of ADP-ribosylation factor-like 3 (ARL3). When changing Tyr90 to cysteine, we observe a loss of interactions in the core of the α/β structure that is likely to affect folding and stability of ARL3.

Conclusion: Our study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa. In 2016, Strom et al. reported the exact same variant in a mother and two children with RP, labelled ?RP83 in the OMIM database. Now the questionmark can be removed, and ARL3 should be added to the list of genes that may cause non-syndromic dominant retinitis pigmentosa.     

A comparison between two powder compaction parameters of plasticity: The effective medium A parameter and the Heckel 1/K parameter

The purpose of the research was to introduce a procedure to derive a powder compression parameter (EM A) representing particle yield stress using an effective medium equation and to compare the EM A parameter with the Heckel compression parameter (1/K).     

The Fit for Delivery study: rationale for the recommendations and test‐retest reliability of a dietary score measuring adherence to 10 specific recommendations for prevention of excessive weight gain during pregnancy

Aiming at preventing excessive weight gain during pregnancy, 10 specific dietary recommendations are given to pregnant women in the intervention arm of the Norwegian Fit for Delivery (FFD) study. This paper presents the rationale and test‐retest reliability of the food frequency questionnaire (FFQ) and a dietary score measuring adherence to the recommendations. The study is part of the ongoing FFD study, a randomised, controlled, intervention study in nulliparous pregnant women. A 43‐item FFQ was developed for the FFD study. A dietary score was constructed from 10 subscales corresponding to the 10 dietary recommendations. Adding the subscales yielded a score from 0 to 10 with increasing score indicating healthier dietary behaviour. The score was divided into tertiles, grouping participants into low, medium and high adherence to the dietary recommendations. Pregnant women attending ultrasound screening at about week 19 of pregnancy were asked to complete the FFQ twice, 2 weeks apart. Of 154 pregnant women completing the first questionnaire, 106 (69%) completed the form on both occasions and was included in the study. The test‐retest correlations of the score and subscales were r = 0.68 and r = 0.56–0.84, respectively (both P ≤ 0.001). There was 68% test‐retest correct classification of the score and 70–87% of the subscales. In conclusion, acceptable test‐retest reliability of the FFQ and the dietary score was found. The score will be used in the FFD study to measure adherence to the dietary recommendations throughout pregnancy and in the following year post‐partum.     

Sensitivity of regression calibration to non‐perfect validation data with application to the Norwegian Women and Cancer Study

Measurement error occurs when we observe error‐prone surrogates, rather than true values. It is common in observational studies and especially so in epidemiology, in nutritional epidemiology in particular. Correcting for measurement error has become common, and regression calibration is the most popular way to account for measurement error in continuous covariates. We consider its use in the context where there are validation data, which are used to calibrate the true values given the observed covariates. We allow for the case that the true value itself may not be observed in the validation data, but instead, a so‐called reference measure is observed. The regression calibration method relies on certain assumptions.This paper examines possible biases in regression calibration estimators when some of these assumptions are violated. More specifically, we allow for the fact that (i) the reference measure may not necessarily be an ‘alloyed gold standard’ (i.e., unbiased) for the true value; (ii) there may be correlated random subject effects contributing to the surrogate and reference measures in the validation data; and (iii) the calibration model itself may not be the same in the validation study as in the main study; that is, it is not transportable. We expand on previous work to provide a general result, which characterizes potential bias in the regression calibration estimators as a result of any combination of the violations aforementioned. We then illustrate some of the general results with data from the Norwegian Women and Cancer Study. Copyright © 2015 John Wiley & Sons, Ltd.