W hite matter hyperintensities (WMH) are signal changes in the white matter seen on T2-weighted magnetic resonance imaging which are frequent incidental findings in otherwise healthy middle-aged and elderly individuals.1-3 WMH do not have a specific pathogenesis, but those seen in asymptomatic older individuals are likely to be ischemic in origin and are associated with arteriosclerosis and vascular risk factors (eg, hypertension, diabetes mellitus, coronary artery disease, high homocysteine levels). 4 These vascular risk factors, however, account for only a proportion of the variance in WMH, and studies have shown that genetic factors possibly make a major contribution. 5 Evidence for genetic contributions to WMH comes from various sources. Several gene mutations have been described leading to monogenic disorders manifesting with WMH, such as Fabry disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, 5 but these are rare. Single nucleotide polymorphisms as genetic risk markers for WMH, either directly or through their interactions with medical risk factors, have been investigated using candidate gene 5 and genome-wide association studies, 6,7 but there have been few independent replications.Considering that the genetic basis of WMH is still unclear, it is important to quantify what proportion of variance in these lesions is genetically determined. Heritability studies quantify the degree to which a trait is passed from parent to offspring and is expressed as the ratio of the additive genetic variance to the total phenotypic variance. 8 High WMH heritability was reported in a study of older male twins, comprising 74 monozygotic (MZ) and 71 dizygotic (DZ) pairs (0.73) 9 and in 2 family studies. 10,11 However, several deficiencies in the literature remain. Although the classic twin method is the best technique for examining heritability of a trait, 8 only 1 prior twin study has estimated WMH heritability but in men only. 9 In fact, there is evidence of sexual dimorphism in WMH. 12 It is arguable that WMH are not a uniform category, and at Background and Purpose-The genetic basis of white matter hyperintensities (WMH) is still unknown. This study examines the heritability of WMH in both sexes and in different brain regions, and the influence of age. Methods-Participants from the Older Australian Twins Study were recruited (n=320; 92 monozygotic and 68 dizygotic pairs) who volunteered for magnetic resonance imaging scans and medical assessments. Heritability, that is, the ratio of the additive genetic variance to the total phenotypic variance, was estimated using the twin design. Results-Heritability was high for total WMH volume (0.76), and for periventricular WMH (0.64) 13 The present study was performed to address some of these concerns. Methods ParticipantsParticipants were drawn from the Older Australian Twins Study (OATS), a study of elderly MZ-DZ twin pairs living in the 3 Eastern states of Australia and registered with the Australian Twin Registry. De...

STUDY QUESTION What is the relationship between specific quality of life domains and depression, anxiety and stress in the endometriosis population? SUMMARY ANSWER Psychosocial domains of quality of life, such as a perception of social support and self-image, are more strongly associated with depression, anxiety and stress than pain and medical factors. WHAT IS KNOWN ALREADY Prior research indicates a high prevalence of anxiety and depression in individuals with endometriosis. Pain is thought to be critical in the development of psychological distress, however prior research has investigated this association without consideration of psychosocial quality of life domains such as social functioning, perceived social support and self-image. STUDY DESIGN, SIZE, DURATION This study is a cross-sectional analysis of baseline data collected in a longitudinal study exploring psychological distress in endometriosis (n = 584). PARTICIPANTS/MATERIALS, SETTING, METHODS Individuals living with endometriosis participated in this study and were recruited via online platforms of community organizations and support groups. Demographic and medical information concerning endometriosis treatment and diagnosis was self-reported. Psychological distress and quality of life was measured using the Depression, Anxiety and Stress Scale (DASS-21), Endometriosis Health Profile-30 (EHP-30) and the Short Form Survey (SF-36v2). A series of linear regression analyses explored the relationship between specific quality of life domains and the primary outcomes of depression, anxiety and stress. MAIN RESULTS AND THE ROLE OF CHANCE Approximately half of the participants in this sample reported moderate to severe anxiety, depression and stress. Quality of life domains, particularly perceived social support, social functioning and self-image, were more strongly associated with psychological distress than medical or demographic factors. Pain was associated with anxiety, but not depression or stress. A greater number of endometriosis symptoms was only associated with depression. LIMITATIONS, REASONS FOR CAUTION These data are cross-sectional and, therefore, causality cannot be inferred from this analysis. Information about endometriosis diagnosis and treatment was self-reported, and not verified against medical records. WIDER IMPLICATIONS OF THE FINDINGS This study indicates that psychosocial factors may be more salient factors underlying depression, anxiety and stress in the endometriosis population than pain and medical factors. There is a need for interventions that target psychological distress in this population with a focus on the broader impact of endometriosis beyond pain and physical symptomatology. STUDY FUNDING/COMPETING INTEREST(S) This research was supported by the Research Training Program (RTP) Scholarship awarded to C.S.M. by Macquarie University. The remaining authors have nothing to declare. TRIAL REGISTRATION NUMBER ACTRN12619001508167.

Background Endometriosis, which affects 1 in 10 people assigned female at birth, is a chronic systemic inflammatory disease with a high symptom burden and adverse socioemotional impacts. There is a need for an accessible, cost-effective, and low-burden intervention to support individuals in managing their endometriosis condition. Objective This study aimed to co-design and evaluate the acceptability, readability, and quality of a bank of supportive SMS text messages (EndoSMS) for individuals with endometriosis. Methods In phase 1 of this mixed method design, 17 consumer representatives (individuals with endometriosis) participated across three 3-hour web-based (Zoom, Zoom Video Communications, Inc) focus groups. The transcripts were encoded and analyzed thematically. In phase 2, consumer representatives (n=14) and health care professionals (n=9) quantitatively rated the acceptability, readability, and appropriateness of the developed text messages in a web-based survey. All the participants initially completed a background survey assessing sociodemographic and medical factors. Results Consumer representatives demonstrated diverse sociodemographic characteristics (Mage=33.29), varying in location (metropolitan vs rural or regional), employment, and relationship and educational statuses. Participants reached a consensus regarding the delivery of 4 SMS text messages per week, delivered randomly throughout the week and in one direction (ie, no reply), with customization for the time of day and use of personal names. Seven main areas of unmet need for which participants required assistance were identified, which subsequently became the topic areas for the developed SMS text messages: emotional health, social support, looking after and caring for your body, patient empowerment, interpersonal issues, general endometriosis information, and physical health. Through a web-based survey, 371 co-designed SMS text messages were highly rated by consumers and health care professionals as clear, useful, and appropriate for individuals with endometriosis. Readability indices (Flesch-Kincaid scale) indicated that the SMS text messages were accessible to individuals with a minimum of 7th grade high school education. Conclusions On the basis of the needs and preferences of a diverse consumer representative group, we co-designed EndoSMS, a supportive SMS text message program for individuals with endometriosis. The initial evaluation of the SMS text messages by consumer representatives and health professionals suggested the high acceptability and suitability of the developed SMS text messages. Future studies should further evaluate the acceptability and effectiveness of EndoSMS in a broader population of individuals with endometriosis.

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