SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis

The Relationship Between Type D Personality, Bedtime Procrastination and Sleep Quality

Background/Aims: Bedtime procrastination (BP) is an unhealthy sleep behavior, but its relationship with Type D (distress) personality has never been examined. This study aimed to investigate the relationship between Type D Personality, BP, and Sleep Quality in university students. Methods: In this cross-sectional study, we applied the sociodemographic sleep data form, Type D personality scale (DS-14), Bedtime Procrastination Scale (BPS), Pittsburgh Sleep Quality Index (PSQI) (subjective sleep quality and daytime dysfunction subscales), Insomnia Severity Index (ISI), and Epworth Sleepiness Scale (ESS). All participants were divided into two groups: Type D personality and non- Type D personality. Sleep variables and scales were compared between these two groups. Additionally, correlation analysis was performed between the scales and the subdimensions of Type D personality. Results: We completed our study with 209 university students (66%, n = 138 female and 34%, n=71 male). The mean age was 22.17 ± 4.33, and 51.2% of all participants had Type D personality. Sleep quality was poor, and insomnia was more severe in participants with Type D personality. Participants with Type D personality had more delayed bedtime. Negative affectivity was associated with poor sleep quality, more severe insomnia, and BP, but social inhibition was not associated with BP. Conclusion: Clinicians should consider the negative affectivity sub-dimension of Type D personality contributing to BP behavior among university students when planning interventions to reduce BP behavior

Type D personality to insomnia: Sleep reactivity, sleep effort, and sleep hygiene as mediators

BACKGROUND: Insomniacs are heterogenous group with very diverse personalities. We aimed to investigate the mediating role of sleep reactivity (SR), sleep hygiene (SH), and sleep effort (SE) in the relationship between Type D personality and insomnia. MATERIALS AND METHODS: We conducted a cross-sectional survey among 474 participants. The survey comprised the sociodemographic data form, Insomnia Severity Index (ISI), D Type Personality Scale (DS-14), Ford Insomnia Response to Stress Test (FIRST), Glasgow Sleep Effort Scale (GSES), and Sleep Hygiene Index (SHI). We conducted hierarchical multiple regression analysis to identify the associations between age, sex, SR, Type D personality traits, SE, SH, and insomnia severity. We subsequently conducted mediation analyses to examine whether SR, SH, and SE mediated the relationship between Type D personality and insomnia. RESULTS: ISI, DS-14, FIRST, SHI, and GSES scores were significantly higher in individuals with Type D personality. Female sex, SR, Type D personality traits, SE, and SH explained 45% of the variance in insomnia severity. When age, sex, insomnia response to stress, and Type D personality traits were controlled, SE and SH significantly explained 25% of the variance in insomnia severity (R (2) = 0.45, R (2) change = 0.25, F (6.474) = 65.58, p \u3c 0.001). SR, SE, and SH each played a partial mediating role between Type D personality and insomnia. CONCLUSION: The findings showed that individuals with Type D personality had high SR and that individuals with a higher number of these personality traits exhibited more severe insomnia symptoms through high SR, greater SE, and worse SH

Reliability and validity of the Turkish version of the acceptance and action questionnaire-substance abuse (AAQ-SA) on a clinical sample

Background: In this study, it is aimed to examine the validity and reliability of the Turkish version of the Acceptance and Action Questionnaire-Substance Abuse (AAQ-SA) which is developed for assessing psychological flexibility levels of individuals with alcohol and/or substance misuse. Methods: The research sample consisted of a total of 191 participants diagnosed with alcohol and substance use disorder. For reliability analysis, Cronbach alpha coefficient, test-retest correlation, and item-total correlation methods were used. The construct validity of the scale was carried out by exploratory factor analysis and confirmatory factor analysis methods. For assessing the criterion-related validity were used Self Concealment Scale (SCS), Addiction Profile Index (BAPI), Beck Depression Inventory (BDI), Internalized Stigma of Mental Illness Scale (ISMIS), Multidimensional Scale of Perceived Social Support (MSPSS) and Rosenberg Self-Esteem Scale (RSES).Results: Principal component analysis with varimax rotation and confirmatory factor analysis were applied to examine the factor structure of the Turkish AAQ-SA and the two-factor structure was obtained similar to the original scale. In the construct validity analysis conducted by confirmatory factor analysis method, it was determined that the regression load of one item was not at the level of significance and the item was excluded from the scale. The Cronbach alpha coefficient of the 17-item final version was 0.736 and the Cronbach alpha coefficients of the sub-scales were 0.700-0.766. The item-total score correlation coefficients ranged from 0.100 to 0.523 (p <0.01). Test-retest reliability analysis at three weeks also showed good temporal stability (r=0.83). In terms of criterion-related validity, the total score of the scale was significantly correlated with BAPI, SCS, BDI, MSPSS, ISMIS, RSES scores in the expected direction. In addition, the AAQ-SA scores were compared according to the severity of addiction which is obtained from BAPI scores and results indicated significant differenceConclusions: Our results of the study indicated that the Turkish version of the AAQ-SA can be used as a satisfactory reliable and valid scale

Psychometric properties of the Turkish reduced morningness and eveningness questionnaire

The aim of this study was to examine the psychometric properties of the 5-item Turkish Reduced Morningness-Eveningness Questionnaire (rMEQ) for the first time. The study involved 875 university students in an adaptation and validation study. Participants completed the rMEQ, MEQ, Depression Anxiety Stress Scale-21 (DASS-21), Insomnia Severity Index (ISI), Barratt Impulsiveness Scale Short Form (BIS-SF), and Oxford Happiness Questionnaire Short Form (OHQ-SF). The factor structure, convergent validity, internal consistency, sensitivity, and specificity of the rMEQ were examined. The confirmatory factor analysis showed that the rMEQ had a one-dimensional structure with good fit indices (χ2/df = 2.94, CFI = 0.990, TLI = 0.979, RMSEA = 0.047, and SRMR = 0.019). There was a significantly strong correlation between rMEQ and MEQ. In addition, we found a significantly weak correlation between rMEQ and DASS-21, ISI, BIS-SF, and OHQ-SF. The internal consistency coefficients of rMEQ were Cronbach’s α = 0.706 and McDonald’s ω = 0.740. The sensitivity and specificity of rMEQ were 83.3%–92.7% for morning types and 86.3%–87.3% for evening types. The Turkish rMEQ has adequate psychometric properties and can be used to assess an individual’s chronotype.</p

Evaluation of Demographic and Clinical Characteristics of Patients who Attempted Suicide by Self-Inflicted Burn Using Catalyzer

Our aim was to assess demographic and clinical characteristics of patients treated at our units who attempted suicide by self-incineration, and to compare the results of burns with or without catalyzer use. Twenty patients who attempted suicide by self-incineration were examined in terms of clinical and demographic characteristics. Average age of the study population was 35 years (range 13-85 years). Average percentage of total body surface area burn was 53% (9%-100%). Six (30%) patients used gasoline and 5 (25%) used paint thinner in order to catalyze burning. Of these 11 patients who used a catalyzer, 5 (45.4%) had inhalation injury and 7 (63.6%) died. Among 9 patients who did not use any catalyzer, 1 (11.1%) had inhalation injury and 4 (44.4%) died. In general, inhalation injury was diagnosed in 6 patients (30%) while 11 (55%) patients died. A high morbidity and mortality rate was found in patients who used a catalyzer

Factors Related to the Impact of Chronically Disabled Children on Their Families

BACKGROUND: This study to investigated the effects of chronically disabled children (CDC) on their families. METHOD: The study included 655 CDD and their families from 45 cities located in Turkey representing the seven regions of the country. Sociodemographic characteristics, presence of mental retardation, primary care-giver, presence of social insurance, the number of other children and other family members living in the family, duration of the disorder, disabling conditions in the other children, time spent for care giving, and level of income were recorded. WeeFIM (Functional Independence for Children) and Impact on Family Scale (IPFAM) were administered to evaluate the level of functional independence and the overall burden on the families, respectively. RESULTS: IPFAM and WeeFIM scores were not different between geographical regions (P > 0.05). Functional independence level of the child and the level of education of the mothers were significant contributors to the disruption of social relations subscale of IPFAM (P 0.05). CONCLUSION: Although some are expected, certain intriguing results, such as the impact of the mothers' literacy level, warrant further larger scale comprehensive studies to investigate the factors that contribute to the impact of CDC on their families. Also, policies that focus on family centered rehabilitation approaches should be encouraged in an effort to decrease the overall impact of CDC on families