The Kink Orientation Scale: Developing and Validating a Measure of Kink Desire, Practice, and Identity.

Kink, often referred to as BDSM, is an important aspect of a sizable minority's sexual desires, practices, and personal relationships, yet there are few ways to assess kink engagement in a holistic manner. This study aimed to develop the Kink Orientation Scale (KOS), a novel short tool for measuring different aspects of kink sexuality. In phase one, 27 items were created and included in the initial scale based on a literature review and focus groups with kinky and non-kinky individuals.

A retrospective observational study on characteristics, treatment patterns, and healthcare resource use of patients with myasthenia gravis in England.

Background: There are limited data on the real-world healthcare resource use (HCRU) and management costs of myasthenia gravis (MG) in England.

Objective: This study aims to assess the burden of disease for patients with MG in England.

Design: A retrospective, observational cohort study of adult patients diagnosed with MG, using data from the Hospital Episode Statistics data warehouse.

Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.

Background: The anti-seizure medication vigabatrin (VGB) is effective for controlling seizures, especially infantile spasms. However, use is limited by VGB-associated visual field loss (VAVFL). The mechanisms by which VGB causes VAVFL remains unknown.

Issues in bisexual men's lives: Identity, health and relationships.

This article provides a critical review of recent research about bisexual men. It foregrounds research dedicated to this group, rather than when bisexual men are included in a broader study, providing a rationale for the importance of doing this. The review finds that there is still a preponderance of research on bisexual men focused on experiences of stigma and discrimination, often from a public health perspective or with a focus on negative health outcomes.

Kink in an English Field: The Drinking, Drug use and Sexual Practices of English Festival-Goers Who Engage in Kink.

Little is known about the other leisure activities of people who engage in kink, including sexual practices and the use of alcohol and other drugs. This article examines the drinking, illicit drug use and sexual practices of people who engage in kink from a novel sample of attendees at an English festival. Of 966 respondents, 64 reported having engaged in kink within the past 12 months.

Findings From a Community Survey of Individuals Who Engage in Pup Play.

This study presents findings from a community survey on pup play. Pup play is a kink activity and a form of role play that is growing in popularity internationally, and gaining increasing attention in sexology, yet prior research on pup play has almost entirely employed qualitative methods and primarily involved gay and bisexual men. Using survey data of 733 pup play participants primarily from the US, but also internationally, this study reports on the demographics of participants, how they engage in pup play, its social and sexual elements, and how it relates to social identity and mental health.

A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.

Objective: Levetiracetam (LEV) is an effective antiseizure medicine, but 10%-20% of people treated with LEV report psychiatric side-effects, and up to 1% may have psychotic episodes. Pharmacogenomic predictors of these adverse drug reactions (ADRs) have yet to be identified. We sought to determine the contribution of both common and rare genetic variation to psychiatric and behavioral ADRs associated with LEV.

Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications.

Resistance to anti-seizure medications (ASMs) presents a significant hurdle in the treatment of people with epilepsy. Genetic markers for resistance to individual ASMs could support clinicians to make better-informed choices for their patients. In this study, we aimed to elucidate whether the response to individual ASMs was associated with common genetic variation.

Changes in Sexual Fantasy and Solitary Sexual Practice During Social Lockdown Among Young Adults in the UK.

Introduction: Pandemic-related social lockdown limited many sexual behaviors, but to date, no study has examined the perceived impact of social lockdown due to COVID-19 on sexual fantasy and solitary sexual behavior.

Aims: The present study sought to examine the perceived impact of social lockdown on sexual fantasy and solitary sexual behavior among UK young adults in various living situations.

Methods: A convenience sample of 565 adults aged 18-32 and living in the UK completed anonymous, web-based, study-specific questionnaires between May 14 and 18, 2020, 7 weeks after social lockdown was initiated.

Changes in Sexual Desire and Behaviors among UK Young Adults During Social Lockdown Due to COVID-19.

This study examined self-reported changes in young adults' sexual desire and behaviors during the most significant social restrictions imposed to deal with COVID-19. Drawing on a survey of 565 British adults aged 18-32 collected at the peak of social lockdown restrictions, we document an overall decrease in sexual behaviors consistent with abiding by social restrictions. We found that the levels of sexual desire reported by women (but not men) decreased compared with reports of pre-lockdown levels.

Symptomatology of carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.

Objective: To ascertain whether adverse effects experienced by people taking carbamazepine or oxcarbazepine could be attributed to carbamazepine- or oxcarbazepine-induced hyponatremia (COIH).

Methods: We performed an observational study, collecting data between 2017 and 2019 on serum sodium levels and adverse effects retrospectively in people with epilepsy while receiving treatment with either carbamazepine (CBZ) or oxcarbazepine (OXC). We defined hyponatremia as sodium level ≤134 mEq/L and severe hyponatremia as sodium level ≤128 mEq/L.

Older Iranian Muslim women's experiences of sex and sexuality: A biographical approach.

Muslim women in Iran live in a patriarchal society which significantly restricts their freedom and agency. While there is a growing understanding of social change as it relates to younger Muslim women in Iran, the perspectives and experiences of older women are marginalized; mirroring problems with the intersections of age, gender, and sexuality in the West. In order to address this occlusion, this article draws on life history interviews with 30 older Muslim women living in Tehran and Karaj.

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis.

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.

Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers in response to specific antiepileptic drugs (AEDs) in genetic generalized epilepsies (GGE). We conducted a genome-wide association study (GWAS) of 3.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome sequencing (WES) and copy number variant analyses in an Irish cohort of 101 people with epilepsy and co-morbid intellectual disability to compare the diagnostic yield of genomic testing between adult and paediatric patients.

Testing association of rare genetic variants with resistance to three common antiseizure medications.

Objective: Drug resistance is a major concern in the treatment of individuals with epilepsy. No genetic markers for resistance to individual antiseizure medication (ASM) have yet been identified. We aimed to identify the role of rare genetic variants in drug resistance for three common ASMs: levetiracetam (LEV), lamotrigine (LTG), and valproic acid (VPA).

Genomic and clinical predictors of lacosamide response in refractory epilepsies.

Objective: Clinical and genetic predictors of response to antiepileptic drugs (AEDs) are largely unknown. We examined predictors of lacosamide response in a real-world clinical setting.

Methods: We tested the association of clinical predictors with treatment response using regression modeling in a cohort of people with refractory epilepsy.

Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care.

Objectives: Both clinical genomics and e-Health technology are changing the way medicine is being practiced. Although the basic clinical methodology of good medical care will remain unchanged, the combined power of genomics and electronic health records has the capability of enhancing, and in some cases transforming, the practice of medicine. This is particularly true in the care of patients with complex long-term medical conditions such as chronic refractory epilepsy, especially in those with related complex comorbidities including intellectual disability and psychiatric disease.

Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.

Background: Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce normal expression, leading to a decreased residual function of Nav1.1, and therefore to more severe clinical outcomes in patients affected by pathogenic SCN1A variants.

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

Objective: To ascertain the clinical and genetic factors contributing to carbamazepine- and oxcarbazepine-induced hyponatremia (COIH), and to carbamazepine (CBZ) metabolism, in a retrospectively collected, cross-sectional cohort of people with epilepsy.

Methods: We collected data on serum sodium levels and antiepileptic drug levels in people with epilepsy attending a tertiary epilepsy center while on treatment with CBZ or OXC. We defined hyponatremia as Na+ ≤134 mEq/L.

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.

We set out to investigate whether a de-novo paradigm could explain genetic causes of chronic ultra-refractory epilepsy, with onset later than the typical age for the epileptic encephalopathies. We performed exome sequencing on nine adult patients with MRI-negative epilepsy and no preceding intellectual disability. All had an onset of seizures after five years old and had chronic ultra-refractory epilepsy defined here as having failed more than six anti-epileptic drugs and currently experiencing ≥4 disabling seizures per month.

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Prior to and following the publication of this article the authors noted that the complete list of authors was not included in the main article and was only present in Supplementary Table 1. The author list in the original article has now been updated to include all authors, and Supplementary Table 1 has been removed. All other supplementary files have now been updated accordingly.