Myotonic dystrophy: The burden for patients and their partners

Objective: Dystrophia myotonica is characterized by progressive muscular weakness, myotonia, mental slowness and lack of initiative, which causes problems in daily life both for patients and for their spouses. Some couples seem to deal with these problems satisfactorily, while for others they are quite burdensome. The aim of this study was to describe the relationship of severity of dystrophia myotonica and psychological wellbeing in patients and partners. Methods: Sixty-nine couples, in whom one partner had dystrophia myotonica, completed questionnaires on severity of dystrophia myotonica, marital satisfaction, anxiety and depression (Hospital Anxiety and Depression Scale), hopelessness (Beck Hopelessness Scale) and general psychological health (General Health Questionnaire-12). Results: For patients, a worse view of the future, worse general wellbeing, more anxiety and more depression was associated with a greater need for help. For partners, worse general wellbeing and more anxiety was associated with a lack of initiative of the patient and less marital satisfaction. It is noteworthy that 40% of patients and particularly female partners had Beck Hopelessness Scale scores suggestive of clinically relevant depression. Conclusion: Dystrophia myotonica places a heavy burden on patients, and especially on female partners. The need for help and dependency has more influence on the wellbeing of patients than the symptoms of dystrophia myotonica themselves. Marital satisfaction is a strong predictor of better wellbeing, both for patients and, even more so, for partners

Adaptation and validation of the Dutch version of the nasal obstruction symptom evaluation (NOSE) scale

The nasal obstruction symptom evaluation (NOSE) scale is a validated disease-specific, self-completed questionnaire for the assessment of quality of life related to nasal obstruction. The aim of this study was to validate the Dutch (NL-NOSE) questionnaire. A prospective instrument validation study was performed in a tertiary academic referral center. Guidelines for the cross-cultural adaptation process from the original English language scale into a Dutch language version were followed. Patients undergoing functional septoplasty or septorhinoplasty and asymptomatic controls completed the questionnaire both before and 3 months after surgery to test reliability and validity. Additionally, we explored the possibility to reduce the NOSE scale even further using graded response models. 129 patients and 50 controls were included. Internal consistency (Cronbach’s alpha 0.82) and test–retest reliability (intraclass correlation coefficient 0.89) were good. The instrument showed excellent between-group discrimination (Mann–Whitney U = 85, p < 0.001) and high response sensitivity to change (Wilcoxon rank p < 0.001). The NL-NOSE correlated well with the score on a visual analog scale measuring the subjective sensation of nasal obstruction, with exception of item 4 (trouble sleeping). Item 4 provided the least information to the total sc

Hearing the voices of children: self-reported information on children's experiences during research procedures

__Introduction:__ In paediatric research, there is a tension between what you can ask from a child and what is needed for the development of evidence-based treatments. To find an optimal balance in conducting clinical research and protecting the child, it is necessary to have empirical data on children's experiences. Until now, there are scarce empirical data on the experiences from the perspective of the child. In this manuscript, we describe the protocol of a twophase study measuring children's self-reported experiences during research procedures. __Methods and analysis:__ In the first phase of our study, we aim to interview approximately 40 children (6-18 years) about their self-reported experiences during research procedures. In the second phase, we will develop a questionnaire to measure children's experiences during research procedures in a quantitative way. We will use the interview outcomes for the development of this questionnaire. Next, we will measure the experiences of children during seven research procedures with this questionnaire. A one-month followup is conducted to investigate the emotional impact of the research procedures on the children. Children will be recruited from different research studies in three academic children's hospitals in the Netherlands. __Ethics and dissemination:__ The ethics committee of the VU University medical center evaluated both studies and indicated that there was no risk/discomfort associated, stating that both phases are exempt from getting

SF-6D utility values for the better- and worse-seeing eye for health states based on the Snellen equivalent in patients with age-related macular degeneration

Objective: Economic evaluations in wet age-related macular degeneration (ARMD) is hampered as often utility values for solely one eye are used, mostly the better-seeing eye (BSE). Moreover, frequently chosen methods rely on patient values and/or disease specific measures, while economic evaluations prefer generic quality of life (QoL) measures based on societal preferences. The generic QoL utility instrument EQ-5D has shown to be insensitive for differences in visual acuity. The aim of this study was therefore to provide societal utility values, using the generic SF-6D, for health states acknowledging both BSE and worse-seeing eye (WSE). Methods: SF-6D utility values of 191 ARMD patients (≤65 years) with 153 follow-up measures at 1 year were used to fill health states defined by the combination of BSE and WSE using Snellen equivalents; no visual loss (≥20/40), mild-moderate (20/200) and severe (≤20/200). Results: QoL utilities were estimated for the SF-6D, ranging from 0.740 for ARMD patients without visual loss to 0.684 for patients with a combination of mild-moderate visual loss in their BSE and severe visual loss in their WSE. Conclusion: Societal utility values are provided for ARMD patients using the generic QoL instrument SF-6D for visual acuity health states based on both BSE and WSE. The range of the values is smaller than previous elicited utilities with the disease-specific VisQoL. Besides, the utility values are placed on a more realistic position on the utility scale, and SF-6D utility values avoid the problem associated with the interpretation of disease-specific utility values

Long-term effects of a three-component lifestyle intervention on emotional well-being in women with Polycystic Ovary Syndrome (PCOS): A secondary analysis of a randomized controlled trial

Many women with Polycystic Ovary Syndrome (PCOS) report high depression rates. The relationship between PCOS and these high depression rates is unclear. Two-component lifestyle interventions have revealed short-term effects on depression scores in this group of women. In general, 3-component interventions including diet, exercise, and cognitive behavioral therapy (CBT) are more effective in the long-term to improve emotional well-being. This has not yet been studied in women with PCOS. This study examined the effect of 20 CBT lifestyle (LS) sessions combined with a healthy diet and physical therapy with or without 9 months additional feedback through Short Message Service (SMS) via mobile phone, compared to care as usual (CAU, involving advice to lose weight). In this secondary analysis, 155 women with PCOS and a BMI above 25 kg/m2 were eligible. Depression scores decreased significantly in the LS programme compared to CAU (P = 0.045). In both the LS programme without SMS (P = 0.036) and the LS programme with SMS (P = 0.011) depression scores decreased while no change was observed in CAU (P = 0.875). Self-esteem scores improved significantly in the LS programme compared to CAU (P = 0.027). No differences in body image scores were observed in LS participants compared to CAU (P = 0.087), although body image improved significantly in both the LS without SMS (P = 0.001) and with SMS (P = 0.008) study arms. We found no significant mediating role by androgens in the relationship between LS participants and emotional well-being. Only weight-loss mediated the relationship between LS and self-esteem. To conclude, a three-component lifestyle intervention programme with or without additional SMS resulted in significant improvements in depression and self-esteem compared to CAU, in women with PCOS, obesity, and a wish to achieve a pregnancy. Testosterone, androstenedione, DHEA, insulin, HOMA-IR, and cortisol did not mediate this effect. Weight loss mediated the effects on self-esteem but not on depression and body-image. This suggests that lifestyle treatment independent of weight loss can reduce depression and body-image, but both lifestyle treatment and weight loss can improve self-esteem. Thus, a three-component lifestyle intervention based on CBT could prove successful in improving mood in women with PCOS who are overweight or obese and attempting to become pregnant

Sexual Function in Women With Polycystic Ovary Syndrome: Design of an Observational Prospective Multicenter Case Control Study

Introduction: The prevalence of polycystic ovary syndrome (PCOS) is 10–15% in women of reproductive age. Its characteristics are (i) clinical or biochemical hyperandrogenism, (ii) oligomenorrhea or amenorrhea, and (iii) polycystic ovaries on ultrasound. PCOS is associated with lower quality of life, depression, anxiety, diabetes, and cardiovascular disease. Treatment commonly entails oral contraceptive use to lower endogenous androgen levels. Androgen levels and comorbidities may affect sexual function. Previous studies have addressed a limited range of possible contributing factors. We will assess sexual function as well as genital and self-reported sexual arousal in a laboratory setting in women with PCOS compared to an age-matched healthy control group. Modulation by biopsychosocial factors mentioned will be studied. Methods: This is a multicenter prospective case control study. The study population includes healthy women with and without PCOS, aged 18–40 years, in a stable heterosexual relationship for at least 6 months. Power is calculated at 67 participants in each group. Anticipating a drop out of 10%, 150 participants will be recruited. Main outcome measures: The main outcomes measured are sexual function using the Female Sexual Function Index, Sexual Desire Inventory, and Female Sexual Distress Scale-Revised; genital sexual arousal measured as vaginal pulse amplitude; and self-reported sexual arousal in response to erotic stimuli in a laboratory setting. The mediators that will be investigated include testosterone, free androgen levels, oral contraceptive use, sensitivity to androgens (using CAG repeat length), body mass index, body image, mental health, and self-esteem. Conclusion: Strengths of this study are the inclusion of a broad range of biopsychosocial outcome measures including DNA analysis, a healthy control group, and standardized assessment of genital and self-reported sexual arousal in a laboratory setting. With the design of this study we aim to provide an insight into which biopsychosocial factors associated with PCOS are related to sexual function, and how sexual function may be affected by treatment. These new insights may help to improve clinical management of PCOS while improving the quality of life. Pastoor H, Both S, Timman R, et al. Sexual Function in Women With Polycystic Ovary Syndrome: Design of an Observational Prospective Multicenter Case Control Study. Sex Med 2020;XX:XXX–XXX

Preoperative Posturing of Patients with Macula-On Retinal Detachment Reduces Progression Toward the Fovea

Purpose: Traditionally, preoperative posturing consisting of bed rest and positioning is prescribed to patients with macula-on retinal detachment (RD) to prevent RD progression and detachment of the fovea. Execution of such advice can be cumbersome and expensive. This study aimed to investigate if preoperative posturing affects the progression of RD. Design: Prospective cohort study. Participants: Ninety-eight patients with macula-on RD were included. Inclusion criteria were volume optical coherence tomography (OCT) scans could be obtained with sufficient quality; and the smallest distance from the fovea to the detachment border was 1.25 mm or more. Methods: Patients were admitted to the ward for bed rest in anticipation of surgery and were positioned on the side where the RD was mainly located. At baseline and before and after each interruption for meals or toilet visits, a 37°×45° OCT volume scan was performed using a wide-angle Spectralis OCT (Heidelberg Engineering, Heidelberg, Germany). The distance between the nearest point of the RD border and fovea was measured using a custom-built measuring tool. Main Outcome Measures: The RD border displacement and the average RD border displacement velocity moving toward (negative) or away (positive) from the fovea were determined for intervals of posturing and interruptions. Results: The median duration of intervals of posturing was 3.0 hours (interquartile range [IQR], 1.8-14.0 hours; n = 202) and of interruptions 0.37 hours (IQR, 0.26-0.50 hours; n = 197). The median RD border displacement was 2 μm (IQR, -65 to +251 μm) during posturing and -61 μm (IQR, -140 to 0 μm) during interruptions, a statistically significant difference (P < 0.001, Mann-Whitney U test). The median RD border displacement velocity was +1 μm/hour (IQR, -21 to +49 μm/hour) during posturing and -149 μm/hour (IQR, -406 to +1 μm/hour) during interruptions, a statistically significant difference (P < 0.001). Conclusions: By making use of usual interruptions of preoperative posturing we were able to show, in a prospective and ethically acceptable manner, that RD stabilizes during posturing and progresses during interruptions in patients with macula-on RD. Preoperative posturing is effective in reducing progression of RD

Levels of the soluble LDL receptor-relative LR11 decrease in overweight individuals with type 2 diabetes upon diet-induced weight loss

__Background and aims__ Cardiovascular disease (CVD) is a major complication in patients with type 2 diabetes (T2D), especially in those with obesity. Plasma soluble low density lipoprotein receptor-relative with 11 ligand-binding repeats (sLR11) plays a role in the development of atherosclerosis and has been linked to the metabolism of triglyceride-rich lipoproteins, adiposity, and vascular complications in T2D. We aimed to determine the effect of diet-induced weight loss on plasma sLR11 levels in overweight and obese individuals with T2D. __Methods__ Plasma sLR11 levels were determined in 64 individuals with T2D and BMI >27 kg/m2 before and after a 20-week weight loss diet. As a reference, sLR11 levels were also determined in 64 healthy, non-obese controls, matched as a group for age and sex. __Results__ Median plasma sLR11 levels of the T2D study-group at baseline (15.4 ng/mL (IQR 12.9–19.5)) were higher than in controls (10.2 (IQR: 8.7–12.2) ng/mL; p = 0.001). The diet resulted in a weight loss of 9.7 ± 5.2% (p = 0.001) and improved CVD risk factors. sLR11 levels were reduced to 13.3 ng/mL (IQR 11.0–17.1; p = 0.001). Changes in sLR11 levels positively associated with changes in non-HDL cholesterol (B = 1.54, R2 = 0.17, p = 0.001) and HbA1c (B = 0.07, R2 = 0.11, p = 0.007), but not with weight loss (B = 0.04, R2 = 0.05, p = 0.076). The changes in non-HDL cholesterol and HbA1c together explained 24% of the variance of sLR11 reduction (p = 0.001). __Conclusions__ Weight loss dieting in overweight and obese individuals with T2D resulted in a reduction in plasma sLR11 levels that was associated with improvements in lipid-profile and glycemic state

A three-component cognitive behavioural lifestyle program for preconceptional weight-loss in women with polycystic ovary syndrome (PCOS): A protocol for a randomized controlled trial

Background: Obesity in women with polycystic ovary syndrome (PCOS) negatively affects all clinical features, and a 5 to 10% weight loss has shown promising results on reproductive, metabolic and psychological level. Incorporating a healthy diet, increasing physical activity and changing dysfunctional thought patterns in women with PCOS are key points in losing weight. The biggest challenge in weight management programs is to achieve a reasonable and sustainable weight loss. The aim of this study is to explore whether Cognitive Behavioural Therap

Sexual function in women with polycystic ovary syndrome: a systematic review and meta-analysis

We present the first systematic review and meta-analysis of sexual function in women with polycystic ovary syndrome (PCOS) compared with women without PCOS. Data on this topic are limited and often contradicting. Sexual function is influenced by endocrine, mental and social factors, which are often compromised in women with PCOS. The main outcome measures were validated sexual function questionnaires and visual analogue scales (VAS). We identified and assessed 1925 original articles; 18 articles were included. Significant small effect sizes were found on sexual function subscales (total score: P = 0.006; arousal: P = 0.019; lubrication: P = 0.023; satisfaction: P = 0.015; orgasm: P = 0.028), indicating impaired sexual function in women with PCOS. Large effect sizes for the effect of body hair on sex were shown on VAS (P = 0.006); social effect of appearance (P = 0.007); sexual attractiveness (P < 0.001). Satisfaction with sex life was impaired (P < 0.001), but sexual satisfaction was rated equally important in women with PCOS and controls. We conclude that a satisfying sex life is important for women with PCOS; however, sexual function and feelings of sexual attractiveness are impaired. The findings imply that sexual function, sexual satisfaction and psychosocial functioning need to be part of every clinical assessment of women with PCOS