Sex Differences in Alcohol Use: Is It All About Hormones?

Risky alcohol use and alcohol use disorders (AUD) are a rising problem in women, yet a major disparity in our understanding of what drives alcohol consumption in women remains. Historically biomedical research has focused on male subjects; however, recent increases in reporting of females, have highlighted major differences between the sexes. Here we review the current literature of the effect of gonadal steroid hormones (estrogens, androgens, and progestins), neurosteriods, and neurobiological factors on alcohol use in clinical and preclinical studies of both sexes.

Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: a UK linkage-based study.

While motor and psychiatric phenotypes in idiopathic dystonia are increasingly well understood, a few studies have examined the rate, type, and temporal pattern of other clinical co-morbidities in dystonia. Here, we determine the rates of clinical diagnoses across 13 broad systems-based diagnostic groups, comparing an overall idiopathic dystonia cohort, and sub-cohorts of cervical dystonia, blepharospasm, and dystonic tremor, to a matched-control cohort. Using the SAIL databank, we undertook a longitudinal population-based cohort study (January 1st 1994-December 31st 2017) using anonymised electronic healthcare records for individuals living in Wales (UK), identifying those diagnosed with dystonia through use of a previously validated algorithm.

Macro- and micro-structural insights into primary dystonia: a UK Biobank study.

Background: Dystonia is a hyperkinetic movement disorder with key motor network dysfunction implicated in pathophysiology. The UK Biobank encompasses > 500,000 participants, of whom 42,565 underwent brain MRI scanning. This study applied an optimized pre-processing pipeline, aimed at better accounting for artifact and improving data reliability, to assess for grey and white matter structural MRI changes between individuals diagnosed with primary dystonia and an unaffected control cohort.

Immunisation status of children receiving care and support in Wales: a national data linkage study.

Background: In the UK, a robust childhood immunisation programme ensures children are offered protection against serious infections; identifying inequalities in vaccination coverage is essential. This is one of the first data linkage studies to examine coverage of primary, as well as pre-school booster and second dose of MMR vaccines, in children receiving support from social care services across Wales.

Methods: By accessing records held within the Secure Anonymised Information Linkage (SAIL) Databank, vaccination status of children receiving social care and support between April 2016 and March 2021 ( = 24,540) was ascertained.

Accelerometer-derived sleep measures in idiopathic dystonia: A UK Biobank cohort study.

Background: Sleep disturbance is an increasingly recognized non-motor trait in dystonia, with varying findings reported to date. Here, we examine sleep in a UK Biobank derived dystonia cohort using subjective self-reported sleep symptoms and objective accelerometer-derived sleep measures, with comparison to a control population.

Methods: A total of 241 dystonia cases were compared to 964 matched controls in analysis of self-reported sleep symptoms and changes in sleep architecture using wrist-worn triaxial accelerometers.

Identification of serum biomarkers for necrotizing enterocolitis using aptamer-based proteomics.

Introduction: Necrotizing enterocolitis (NEC) is a potentially fatal intestinal disease primarily affecting preterm infants. Early diagnosis of neonates with NEC is crucial to improving outcomes; however, traditional diagnostic tools remain inadequate. Biomarkers represent an opportunity to improve the speed and accuracy of diagnosis, but they are not routinely used in clinical practice.

Use of remote monitoring and integrated platform for the evaluation of sleep quality in adult-onset idiopathic cervical dystonia.

Background: Up to 70% of individuals diagnosed with adult-onset idiopathic focal cervical dystonia (AOIFCD) report difficulties with sleep. Larger cohort studies using wrist-worn accelerometer devices have emerged as an alternative to smaller polysomnography studies, in order to evaluate sleep architecture.

Methods: To measure activity during the sleep/wake cycle, individuals wore a consumer-grade wrist device (Garmin vivosmart 4) continuously over 7 days on their non-dominant wrist, while completing a daily sleep diary and standardised sleep and non-motor questionnaires via a dedicated app.

Longitudinal analysis of the relationship between motor and psychiatric symptoms in idiopathic dystonia.

Background And Purpose: Although psychiatric diagnoses are recognized in idiopathic dystonia, no previous studies have examined the temporal relationship between idiopathic dystonia and psychiatric diagnoses at scale. Here, we determine rates of psychiatric diagnoses and psychiatric medication prescription in those diagnosed with idiopathic dystsuponia compared to matched controls.

Methods: A longitudinal population-based cohort study using anonymized electronic health care data in Wales (UK) was conducted to identify individuals with idiopathic dystonia and comorbid psychiatric diagnoses/prescriptions between 1 January 1994 and 31 December 2017.

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.

The spectrum of non-motor symptoms in dystonia remains unclear. Using UK Biobank data, we analysed clinical phenotypic and genetic information in the largest dystonia cohort reported to date. Case-control comparison of dystonia and matched control cohort was undertaken to identify domains (psychiatric, pain, sleep and cognition) of increased symptom burden in dystonia.

Adult-onset idiopathic dystonia: A national data-linkage study to determine epidemiological, social deprivation, and mortality characteristics.

Background And Purpose: Accurate epidemiological information is essential for the improved understanding of dystonia syndromes, as well as better provisioning of clinical services and providing context for diagnostic decision-making. Here, we determine epidemiological, social deprivation, and mortality characteristics of adult-onset idiopathic dystonia in the Welsh population.

Methods: A retrospective population-based cohort study using anonymized electronic health care data in Wales was conducted to identify individuals with dystonia between 1 January 1994 and 31 December 2017.

Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia.

Background: Non-motor symptoms are well established phenotypic components of adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD). However, improved understanding of their clinical heterogeneity is needed to better target therapeutic intervention. Here, we examine non-motor phenotypic features to identify possible AOIFCD subgroups.

Sleep disturbance in movement disorders: insights, treatments and challenges.

Sleep and circadian rhythm disturbances are central features of many movement disorders, exacerbating motor and non-motor symptoms and impairing quality of life. Understanding these disturbances to sleep is clinically important and may further our understanding of the underlying movement disorder. This review evaluates the current anatomical and neurochemical understanding of normal sleep and the recognised primary sleep disorders.

Differential expression of GIMAP genes upon induction of apoptosis and autophagy suggests a potential role in cnidarian symbiosis and disease.

Coral reefs, one of the world's most productive and diverse ecosystems, are currently threatened by a variety of stressors that result in increased prevalence of both bleaching and disease. Therefore, understanding the molecular mechanisms involved in these responses is critical to mitigate future damage to the reefs. One group of genes that is potentially involved in cnidarian immunity and symbiosis is GTPases of immunity associated proteins (GIMAP).

Characterization and expression of tyrosinase-like genes in the anemone Exaiptasia pallida as a function of health and symbiotic state.

Coral disease is a major threat to reef ecosystems and therefore, understanding the cellular pathways underlying disease progression and resistance is critical to mitigating future outbreaks. This study focused on tyrosinase-like proteins in cnidarians, which contribute to melanin synthesis, an invertebrate innate immune defense. Specifically, characterization and phylogenetic analysis of cnidarian tyrosinases were performed, and their role in symbiosis and a "mystery disease" in the anemone Exaiptasia pallida was investigated using qPCR.

In Vivo Interplay between p27, GATA3, ATOH1, and POU4F3 Converts Non-sensory Cells to Hair Cells in Adult Mice.

Hearing loss is widespread and persistent because mature mammalian auditory hair cells (HCs) are nonregenerative. In mice, the ability to regenerate HCs from surrounding supporting cells (SCs) declines abruptly after postnatal maturation. We find that combining p27 deletion with ectopic ATOH1 expression surmounts this age-related decline, leading to conversion of SCs to HCs in mature mouse cochleae and after noise damage.