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The Australian and New Zealand Journal... Jun 2024Harmonized tools are essential for reliable data sharing and accurate identification of relevant factors in mental health research. The primary objective of this study... (Review)
Review
OBJECTIVE
Harmonized tools are essential for reliable data sharing and accurate identification of relevant factors in mental health research. The primary objective of this study was to create a harmonized questionnaire to collect demographic, clinical and behavioral data in diverse clinical trials in adult psychiatry.
METHODS
We conducted a literature review and examined 24 questionnaires used in previously published randomized controlled trials in psychiatry, identifying a total of 27 domains previously explored. Using a Delphi-method process, a task force team comprising experts in psychiatry, epidemiology and statistics selected 15 essential domains for inclusion in the final questionnaire.
RESULTS
The final selection resulted in a concise set of 22 questions. These questions cover factors such as age, sex, gender, ancestry, education, living arrangement, employment status, home location, relationship status, and history of medical and mental illness. Behavioral factors like physical activity, diet, smoking, alcohol and illicit drug use were also included, along with one question addressing family history of mental illness. Income was excluded due to high confounding and redundancy, while language was included as a measure of migration status.
CONCLUSION
The recommendation and adoption of this harmonized tool for the assessment of demographic, clinical and behavioral data in mental health research can enhance data consistency and enable comparability across clinical trials.
PubMed: 38845137
DOI: 10.1177/00048674241253452 -
Child and Adolescent Psychiatry and... Jun 2024Disordered eating behaviors (DEBs), a risk factor for the development of eating disorders (EDs), are prevalent in young people and different DEBs frequently co-occur....
BACKGROUND
Disordered eating behaviors (DEBs), a risk factor for the development of eating disorders (EDs), are prevalent in young people and different DEBs frequently co-occur. Previous studies on DEB-patterns have largely used traditional retrospective questionnaires to assess DEBs. In addition, most previous studies did not specifically exclude individuals with clinical EDs, which limits current knowledge concerning purely subclinical patterns of DEBs. In the present study, we aimed to explore phenotypes and group sizes of subclinical patterns of DEBs reported in everyday life via smartphone-based ecological momentary assessment (EMA) in adolescents and young adults from the general population without lifetime EDs. In secondary analyses, we further aimed to investigate whether DEB-patterns would be associated with additional previously identified risk factors for ED-development.
METHODS
EMA was conducted in a community sample of 14-21-year-olds from Dresden, Germany, over four days for up to eight times a day and covered engagement in four DEBs: skipping eating, restrained eating, eating large amounts of food, and loss-of-control eating. Data were analyzed from N = 966 individuals without lifetime EDs with an EMA compliance rate of at least 50% (81.9% of the total sample; average compliance: 84.6%). Latent profile analyses were performed to identify subclinical patterns of DEBs, stratified by sex. Associations between symptomatic profiles and ED-risk factors were tested via regression analyses.
RESULTS
Based on theoretical deliberations, statistical indices, interpretability, and parsimony, a three-profile solution, namely no DEBs, high-mixed DEBs, and low-mixed DEBs, was selected for both sexes. Both symptomatic profiles in both sexes were associated with more unfavorable manifestations in additional ED risk factors compared to the no DEBs profile, with the highest number of associations being observed in the female high-mixed profile.
CONCLUSIONS
The present findings suggest that problematic manifestations of DEBs in young people may occur even in the absence of an ED diagnosis and that they are associated with additional risk factors for EDs, warranting increased efforts in targeted prevention, early identification and intervention in order to counteract symptom progression.
PubMed: 38845025
DOI: 10.1186/s13034-024-00752-w -
Scientific Reports Jun 2024The misuse of benzodiazepines and opioid medications is frequent in students. To improve our understanding of this behavior, we aimed to identify factors associated with...
The misuse of benzodiazepines and opioid medications is frequent in students. To improve our understanding of this behavior, we aimed to identify factors associated with separate and concomitant use of these substances. Anonymous self-reported questionnaires were e-mailed to students enrolled at a French university between March and July 2021, covering: sociodemographic characteristics, academics, psychoactive substance use, ADHD symptomatology (adulthood and childhood), and psychiatric/psychological or addiction follow-up. Factors associated with the use of benzodiazepines and opioid medications included female sex (OR = 1.41 [1.08; 1.86]) and OR = 1.38 [1.06; 1.79], respectively), older age (OR = 1.65 [1.04; 2.6] and OR = 2.17 [1.4; 3.36], respectively), current psychiatric/psychological follow-up (OR = 6.53 [5.18; 8.24] and OR= 1.5 [1.12; 2.0], respectively), ADHD symptomatology (OR= 2.33 [1.71;3.16] and OR= 1.61 [1.15; 2.24], respectively), polyconsumption (tobacco use for benzodiazepine users, OR = 1.38 [1.04; 1.82]; alcohol use OR = 1.67 [1.17; 2.39] and tobacco use OR = 1.62 [1.23; 2.14] for opioid users). These factors were even more strongly associated with the concomitant use of benzodiazepines and opioid medications: older age (OR = 3.64 [2.22; 5.99]), female sex (OR = 1.54 [1.1; 2.14]), grade repetition (OR = 1.7 [1.14; 2.54]), psychiatric/psychological follow-up (OR = 4.51 [3.35;6.06]), ADHD symptomatology (OR = 5.3 [3.69; 7.63]), polyconsumption (tobacco use OR = 2.05 [1.39; 3] and cannabis use, OR = 2.07 [1.97; 4.16]. The factors associated with the use of benzodiazepines and prescription opioids identified in this study could lead to the development of targeted prevention methods.
Topics: Humans; Benzodiazepines; Female; Male; Cross-Sectional Studies; Analgesics, Opioid; Young Adult; Students; Adult; Adolescent; Substance-Related Disorders; Surveys and Questionnaires; France; Prescription Drug Misuse; Prescription Drugs; Attention Deficit Disorder with Hyperactivity
PubMed: 38844771
DOI: 10.1038/s41598-024-63037-4 -
Nigerian Journal of Clinical Practice May 2024Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome, the second important cause of primary amenorrhea, is characterized by complete mullerian agenesis in the presence of...
BACKGROUND
Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome, the second important cause of primary amenorrhea, is characterized by complete mullerian agenesis in the presence of normal karyotype and normal functioning ovaries. Incidence is one in 4500 females. Treatment options include surgical and non-surgical methods. Surgical treatment by creating a neovagina between bladder and rectum is preferred as it gives immediate results.
AIM
To evaluate the anatomical and functional outcomes of modified vaginoplasty procedures conducted in our institution.
METHODS
An ambispective cohort study was conducted in the Department of Obstetrics and Gynaecology, at a tertiary care hospital and included 10 cases of MRKH syndrome, who underwent surgical treatment in our department. Postoperative outcome was noted. Sexual function was evaluated using the Female Sexual Function Index (FSFI) score.
RESULTS
The mean duration of surgery was 40 minutes. The average blood loss during surgery in patients undergoing vaginoplasty was 60 ml. The mean length of the neovagina as measured 1 month after surgery was 7.9 cms. FSFI score was >30 in eight patients. Two patients were lost to follow-up.
CONCLUSION
Modified McIndoe vaginoplasty is a simple, safe, and cost-effective procedure in the hands of experts. Only mature patients willing to follow the instructions and planning to get married soon should undergo this surgery.
Topics: Humans; Female; Vagina; Mullerian Ducts; 46, XX Disorders of Sex Development; Tertiary Care Centers; Adult; Adolescent; Congenital Abnormalities; Young Adult; Plastic Surgery Procedures; Treatment Outcome; Gynecologic Surgical Procedures; Cohort Studies; Prospective Studies
PubMed: 38842714
DOI: 10.4103/njcp.njcp_874_23 -
Frontiers in Endocrinology 2024The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or... (Review)
Review
46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.
The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.
Topics: Humans; Adrenal Hyperplasia, Congenital; Puberty; Hormone Replacement Therapy; Fertility; Female; Male; Disorders of Sex Development; Sexual Development
PubMed: 38841305
DOI: 10.3389/fendo.2024.1402579 -
Journal of Neuroinflammation Jun 2024Mounting evidence links glucose intolerance and diabetes as aspects of metabolic dysregulation that are associated with an increased risk of developing dementia....
BACKGROUND
Mounting evidence links glucose intolerance and diabetes as aspects of metabolic dysregulation that are associated with an increased risk of developing dementia. Inflammation and inflammasome activation have emerged as a potential link between these disparate pathologies. As diet is a key factor in both the development of metabolic disorders and inflammation, we hypothesize that long term changes in dietary factors can influence nervous system function by regulating inflammasome activity and that this phenotype would be sex-dependent, as sex hormones are known to regulate metabolism and immune processes.
METHODS
5-week-old male and female transgenic mice expressing a caspase-1 bioluminescent reporter underwent cranial window surgeries and were fed control (65% complex carbohydrates, 15% fat), high glycemic index (65% carbohydrates from sucrose, 15% fat), or ketogenic (1% complex carbohydrates, 79% fat) diet from 6 to 26 weeks of age. Glucose regulation was assessed with a glucose tolerance test following a 4-h morning fast. Bioluminescence in the brain was quantified using IVIS in vivo imaging. Blood cytokine levels were measured using cytokine bead array. 16S ribosomal RNA gene amplicon sequencing of mouse feces was performed to assess alterations in the gut microbiome. Behavior associated with these dietary changes was also evaluated.
RESULTS
The ketogenic diet caused weight gain and glucose intolerance in both male and female mice. In male mice, the high glycemic diet led to increased caspase-1 biosensor activation over the course of the study, while in females the ketogenic diet drove an increase in biosensor activation compared to their respective controls. These changes correlated with an increase in inflammatory cytokines present in the serum of test mice and the emergence of anxiety-like behavior. The microbiome composition differed significantly between diets; however no significant link between diet, glucose tolerance, or caspase-1 signal was established.
CONCLUSIONS
Our findings suggest that diet composition, specifically the source and quantity of carbohydrates, has sex-specific effects on inflammasome activation in the central nervous system and behavior. This phenotype manifested as increased anxiety in male mice, and future studies are needed to determine if this phenotype is linked to alterations in microbiome composition.
Topics: Animals; Female; Male; Mice; Caspase 1; Mice, Transgenic; Sex Characteristics; Diet, Ketogenic; Dietary Carbohydrates; Central Nervous System; Gastrointestinal Microbiome; Mice, Inbred C57BL
PubMed: 38840215
DOI: 10.1186/s12974-024-03140-5 -
Nature Genetics Jun 2024Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease... (Meta-Analysis)
Meta-Analysis
Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of genome-wide association studies in 116,647 individuals with RLS (cases) and 1,546,466 controls of European ancestry. The pooled analysis increased the number of risk loci eightfold to 164, including three on chromosome X. Sex-specific meta-analyses revealed largely overlapping genetic predispositions of the sexes (r = 0.96). Locus annotation prioritized druggable genes such as glutamate receptors 1 and 4, and Mendelian randomization indicated RLS as a causal risk factor for diabetes. Machine learning approaches combining genetic and nongenetic information performed best in risk prediction (area under the curve (AUC) = 0.82-0.91). In summary, we identified targets for drug development and repurposing, prioritized potential causal relationships between RLS and relevant comorbidities and risk factors for follow-up and provided evidence that nonlinear interactions are likely relevant to RLS risk prediction.
Topics: Restless Legs Syndrome; Humans; Genome-Wide Association Study; Genetic Predisposition to Disease; Risk Factors; Female; Male; Polymorphism, Single Nucleotide; Mendelian Randomization Analysis; Machine Learning
PubMed: 38839884
DOI: 10.1038/s41588-024-01763-1 -
Scientific Data Jun 2024Sex bias is known in the prevalence/pathology of neurodevelopmental disorders. Sex-dependent differences of the certain brain areas are known to emerge perinatally...
Sex bias is known in the prevalence/pathology of neurodevelopmental disorders. Sex-dependent differences of the certain brain areas are known to emerge perinatally through the exposure to sex hormones, while gene expression patterns in the rodent embryonic brain does not seem to be completely the same between male and female. To investigate potential sex differences in gene expression and cortical organization during the embryonic period in mice, we conducted a comprehensive analysis of gene expression for the telencephalon at embryonic day (E) 11.5 (a peak of neural stem cell expansion) and E14.5 (a peak of neurogenesis) using bulk RNA-seq data. As a result, our data showed the existence of notable sex differences in gene expression patterns not obviously at E11.5, but clearly at E14.5 when neurogenesis has become its peak. These data can be useful for exploring potential contribution of genes exhibiting sex differences to the divergence in brain development. Additionally, our data underscore the significance of studying the embryonic period to gain a deeper understanding of sex differences in brain development.
Topics: Animals; Telencephalon; Mice; Female; Male; Transcriptome; Neurogenesis; Sex Characteristics
PubMed: 38839806
DOI: 10.1038/s41597-024-03421-x -
Cell Death & Disease Jun 2024Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like...
Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like Sertoli cells, and occasionally focal spermatogenesis. Here, we show that the immature-like Sertoli cells highly expressed XIST and had two X-chromosomes, while the mature Sertoli cells lacked XIST expression and had only one X-chromosome. Sertoli cells supporting focal spermatogenesis also lacked XIST expression and the additional X-chromosome, while the spermatogonia expressed XIST despite having only one X-chromosome. XIST was expressed in Sertoli cells until puberty, where a gradual loss was observed. Our results suggest that a micro-mosaic loss of the additional X-chromosome is needed for Sertoli cells to mature and to allow focal spermatogenesis.
Topics: Klinefelter Syndrome; Male; Sertoli Cells; Spermatogenesis; Animals; Humans; Mice; RNA, Long Noncoding; Chromosomes, Human, X; X Chromosome
PubMed: 38839795
DOI: 10.1038/s41419-024-06792-6 -
BMC Psychiatry Jun 2024Psychotic depression (PD) is characterized by the co-occurrence of emotional dysfunction and psychotic symptoms such as delusions and hallucinations with poor clinical...
Non-linear relationship between TSH and psychotic symptoms on first episode and drug naïve major depressive disorder patients: a large sample sized cross-sectional study in China.
INTRODUCTION
Psychotic depression (PD) is characterized by the co-occurrence of emotional dysfunction and psychotic symptoms such as delusions and hallucinations with poor clinical outcomes. TSH may involve in the development of PD. This study aims to explore relationship between TSH and PD.
METHODS
A total of 1718 outpatients diagnosed as FEDN MDD were recruited in this study. The relationship between PD and TSH was evaluated using multivariable binary logistic regression analysis. To assess the presence of non-linear associations, a two-piecewise linear regression model was employed. Furthermore, interaction and stratified analyses were conducted with respect to sex, education, marital status, comorbid anxiety, and suicide attempt.
RESULTS
Multivariable logistic regression analysis revealed that TSH was positively associated with the risk of PD after adjusting for confounders (OR = 1.26, 95% CI: 1.11 to 1.43; p < 0.05). Smoothing plots showed a nonlinear relationship between TSH and PD, with the inflection point of TSH being 4.94 mIU/L. On the right of the inflection point, for each unit increase in serum TSH level on the right side of the inflection point, the probability of PD increased substantially by 47% (OR = 1.47, 95% CI: 1.25 to 1.73, p < 0.001), while no significant association was observed on the left side of the inflection point (OR = 0.87, 95% CI: 0.67 to 1.14, p = 0.32).
CONCLUSION
Our investigation showed a nonlinear TSH-PD relationship in FEDN MDD patients, thus contributing to effective intervention strategies for psychotic symptoms in depression patients.
Topics: Humans; Male; Female; Cross-Sectional Studies; Adult; Thyrotropin; China; Depressive Disorder, Major; Psychotic Disorders; Middle Aged; Young Adult
PubMed: 38834989
DOI: 10.1186/s12888-024-05860-7