Features Of Disorder Research Articles

Metabolic network analysis of pre-ASD newborns and 5-year-old children with autism spectrum disorder

Classical metabolomic and new metabolic network methods were used to study the developmental features of autism spectrum disorder (ASD) in newborns (n = 205) and 5-year-old children (n = 53). Eighty percent of the metabolic impact in ASD was caused by 14 shared biochemical pathways that led to decreased anti-inflammatory and antioxidant defenses, and to increased physiologic stress molecules like lactate, glycerol, cholesterol, and ceramides. CIRCOS plots and a new metabolic network parameter, V°\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$\\dot{{{\\boldsymbol{V}}}}\\!$$\\end{document}net, revealed differences in both the kind and degree of network connectivity. Of 50 biochemical pathways and 450 polar and lipid metabolites examined, the developmental regulation of the purine network was most changed. Purine network hub analysis revealed a 17-fold reversal in typically developing children. This purine network reversal did not occur in ASD. These results revealed previously unknown metabolic phenotypes, identified new developmental states of the metabolic correlation network, and underscored the role of mitochondrial functional changes, purine metabolism, and purinergic signaling in autism spectrum disorder.

Do childhood experiences influence associations between posttraumatic stress disorder symptoms and positive autobiographical memories among military veteran students? An exploratory study

ABSTRACT Background Evidence links posttraumatic stress disorder (PTSD) symptoms and features of positive autobiographical memories (accessibility, vividness, coherence, sharing, emotional intensity, distancing). There is a knowledge gap on how adverse childhood experiences (ACEs) and benevolent childhood experiences (BCEs) may influence these relationships. Objectives The current study explored whether the number ACEs or BCEs moderated associations between PTSD symptom severity and features of positive autobiographical memories. Design and Methods The sample included 124 student military veterans who had experienced a trauma (M age = 33.90; 77.4% male; 75.0% White). Results Path analyses showed more PTSD symptom severity was significantly associated with less positive autobiographical memory vividness (β = −0.26, p = .019, R2 = 0.06). Further, the number of ACEs moderated the relationship between PTSD symptom severity and positive autobiographical memory accessibility (β = −0.25, p = .023, R2 = 0.10) and vividness (β = −0.20, p = .024, R2 = 0.10). Among individuals with more ACEs (1 SD above the mean) compared to those with fewer ACEs (1 SD below the mean), less accessibility and vividness of positive autobiographical memories was associated with greater PTSD symptom severity. The number of BCEs was not a significant moderator. Conclusions Positive memory-based interventions may be particularly useful to address PTSD symptoms among military veterans with a history of childhood adversity.

Evaluation of Hepatic Glucose and Palmitic Acid Metabolism in Rodents on High‐Fat Diet Using Deuterium Metabolic Imaging

BackgroundOne of the main features of several metabolic disorders is dysregulation of hepatic glucose and lipid metabolism. Deuterium metabolic imaging (DMI) allows for assessing the uptake and breakdown of 2H‐labeled substrates, giving specific insight into nutrient processing in healthy and diseased organs. Thus, DMI could be a useful approach for analyzing the differences in liver metabolism of healthy and diseased subjects to gain a deeper understanding of the alterations related to metabolic disorders.PurposeEvaluating the feasibility of DMI as a tool for the assessment of metabolic differences in rodents with healthy and fatty livers (FLs).Study TypeAnimal Model.Population18 male Sprague Dawley rats on standard (SD, n = 9, healthy) and high‐fat diet (HFD, n = 9, FL disease).Field Strength/SequencePhase‐encoded 1D pulse‐acquire sequence and anatomy co‐registered phase‐encoded 3D pulse‐acquire chemical shift imaging for 2H at 9.4T.AssessmentLocalized and nonlocalized liver spectroscopy was applied at eight time points over 104 minutes post injection. The obtained spectra were preprocessed and quantified using jMRUI (v7.0) and the resulting amplitudes translated to absolute concentration (mM) according to the 2H natural abundance water peak.Statistical TestsTwo‐way repeated measures ANOVA were employed to assess between‐group differences, with statistical significance at P < 0.05.ResultsDMI measurements demonstrated no significant difference (P = 0.98) in the uptake of [6,6′‐2H2]glucose between healthy and impaired animals (AUCSD = 1966.0 ± 151.5 mM ‐ minutes vs. AUCHFD = 2027.0 ± 167.6 mM·minutes). In the diseased group, the intrahepatic uptake of palmitic acid d‐31 was higher (AUCHFD = 57.4 ± 17.0 mM·minutes, AUCSD = 33.3 ± 10.5 mM·minutes), but without statistical significance owing to substantial in‐group variation (P = 0.73).Data ConclusionDMI revealed higher concentrations of palmitic acid in rats with FL disease and no difference in hepatic glucose concentration between healthy and impaired animals. Thus, DMI appears to be a useful tool for evaluating metabolism in rodents with FL disease.Level of Evidence2Technical EfficacyStage 3.

Specific features of behavioral disorders in Parkinson's disease

Specific features of behavioral disorders in Parkinson's disease

Myo-inositol supplementation in obese patients with non-alcoholic fatty liver disease: Assessment of sirtuin-1 pathway, atherogenic and hematological parameters

BackgroundNon-alcoholic fatty liver disease (NAFLD), the most common chronic liver disease, is closely associated with higher risks of atherosclerosis through a number of molecular cascades such as the sirtuin-1 (SIRT-1) pathway. Myo-inositol as a precursor isomer of cyclohexanehexols exerts anti-hyperlipidemic and anti-obesity features in metabolic disorders. The current study aimed to assess the effects of myo-inositol supplementation on genes expression of the SIRT-1 pathway, atherogenic indices, and hematological parameters in obese patients with NAFLD. MethodsThis double-blinded randomized clinical trial was conducted on 44 obese patients with ultrasound proven- NAFLD who received dietary recommendations and were randomly allocated into either myo-inositol (4 g/day) or placebo (maltodextrin 4 g/day) receiving groups for 8 weeks. At baseline and the end of the study mRNA expression levels of SIRT-1 pathway genes in peripheral blood mononuclear cells (PBMCs), complete blood cell count, lipid profile, and atherogenic indices were assessed. Inter-group differences were determined using analysis of covariance (by adjusting for the potential confounders) at the end of the trial. ResultsAt the end of the trial mRNA expression levels of low-density- lipoprotein receptor (LDLR) (only in myo-inositol group) and endothelial nitric oxide synthase (eNOS) (in both groups) significantly increased, compared with steady-state levels (p = 0.004 and p = 0.001, respectively). Moreover, myo-inositol supplementation significantly inhibited lectin-like oxidized- low-density lipoprotein receptor-1 (LOX-1) expression compared with the placebo group (p = 0.045). Slight improvements in Cholesterol-related atherogenic indices and hematological parameters were also observed in myo-inositol group, compared with baseline values (p < 0.05). ConclusionMyo-inositol supplementation could slightly activate SIRT-1 pathway and thereby exert marginal anti-atherosclerotic properties in obese patients with NAFLD.

Mental disorders in antiphospholipid syndrome patients: association with clinical and immunological manifestations of the disease

The aim of this work is to clarify the association between the clinical and psychopathological features of mental disorders (MD) and the clinical and immunological features of antiphospholipid syndrome (APS).Material and methods. The study included 107 patients (34 (31.8%) men and 73 (68.2%) women) aged 18 to 69 years (40.6±10.4 years (M±SD)), 54 (50.5%) – with primary APS (PAPS), established according to the international criteria of 2006 and 53 (49.5%) patients – with reliable diagnosis of systemic lupus erythematosus (SLE), according to the European Alliance of Associations for Rheumatology/American College of Rheumatology (EULAR/ ACR) 2019 criteria, with a secondary APS. Risk of thrombosis in APS was assessed by the GAPSS (Global Anti-Phospholipid Syndrome Score). MD were diagnosed by a psychiatrist in accordance with 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) and Diagnostic and Statistical Manual of mental disorders, 5th edition (DSM-5).Results. Mental disorders are detected in the vast majority of patients with APS (98 (91.6%)), predominantly in anxiety-depressive spectrum disorders (ADSD; 90 (84.1%)). Depressive disorders are not associated with a high risk of thrombosis according to the GAPSS, but more severe variants of depression are more common in patients with high anti-β2 -glycoprotein I (anti-β2 GP1) and low/moderate anti cardiolipin (aCL) antibodies. Anxiety disorders were diagnosed only in patients with a high risk of thrombosis according to GAPSS, high aCL and IgG anti-β2 GP1. Schizotypal disorder was identified only in patients with a high risk of thrombosis and positive anti-phosphatidylserine/prothrombin complex antibodies (aPS/PT) regardless of class, and also more often in patients with high IgG anti-β2 GP1. Epilepsy was observed only in patients with positive aPS/PT, regardless of class. Cognitive impairment (CI), mostly mild and moderate, was found in the vast majority of patients with APS (102 (95.3%)). Dementia was detected in 7 (6.5%) patients, and only in those who had acute or transient cerebrovascular accident. When compared with the general population, dementia developed at an earlier age (up to 65 years). For patients with a high risk of thrombosis, moderate CI is more typical. CI and their severity are not associated with the duration of APS, but are associated with positivity for IgG aPS/PT, acute or transient cerebrovascular accident and the duration of comorbid ADSD.Conclusion. A high frequency of MD in patients with APS revealed. Associations of MD with clinical and immunological manifestations of APS were determined. CI in patients with APS is heterogeneous and are associated with both clinical and immunological manifestations of APS and MD. Identification of CI and determination of their characteristics should be confirmed by clinical, psychopathological and pathopsychological methods in order to personalize their correction within the partnership model of care.

Ex Vivo Confocal Laser Scanning Microscopy in Rare Skin Diseases.

While ex vivo confocal laser scanning microscopy has previously demonstrated its utility in most common skin diseases, its use in the assessment of dermatological entities with lower incidence remains unexplored in most cases. We therefore aimed to evaluate the diagnostic efficacy of some rare skin tumors as well as a few inflammatory skin diseases, that have not yet been studied in ex vivo confocal laser scanning microscopy. A total of 50 tissue samples comprising 10 healthy controls, 10 basal cell carcinoma, 10 squamous cell carcinoma, and 20 rare skin conditions were imaged using the newest generation ex vivo confocal microscopy (Vivascope 2500 M-G4, Vivascope GmbH, Munich, Germany). Three blinded investigators were asked to identify characteristic features of rare skin disorders and distinguish them from more common skin diseases in the ex vivo confocal microscopy images. Our findings present the capability of ex vivo confocal microscopy to display distinctive morphologic patterns in common and rare skin diseases. As might be expected, we found a strong correlation between imaging experience and diagnostic accuracy. While the imaging inexperienced dermatohistopathologist reached 60% concordance, the imaging-trained dermatologist obtained 88% agreement with dermatohistopathology. The imaging-trained dermatohistopathologist achieved concordance up to 92% with gold-standard dermatohistopathology. This study highlights the potential of ex vivo confocal laser scanning microscopy as a promising adjunct to conventional dermatohistopathology for the early and precise identification of rare dermatological disorders.

Features of speech disorders in children with epileptic encephalopathies

Introduction. Speech disorders are a common problem in childhood. Speech disorders of various types are, in particular, the most common complications of epilepsy.&#x0D; Objective. The clinical manifestations of speech disorders in children with epileptic encephalopathies were studied.&#x0D; Materials and methods. The study included eighty nine children with epileptic encephalopathies. All patients underwent a detailed study of the anamnesis of life and disease, assessment of neurological and somatic, analysis of the semiotics of seizures, assessment of the therapy received, articulatory praxis, phonemic perception, game activity, expressive speech, impressive speech.&#x0D; Results. Speech in the examined patients had the character of a gross violation after the stage of normal development (37.1%), speech development delay was noted in 38.2% of patients from birth. Phonemic perception was impaired in 73 (82.0%) patients, a violation of articulatory praxis was detected in 63 (70.8%) patients, coherent speech was not formed in 78 (87.6%) patients, play activity did not correspond to the age of the child in 50 ( 56.2%) cases, violation of the account was detected in 69 (77.5%) patients, violation of sound pronunciation was observed in 30 (33.7%) patients. &#x0D; Conclusion. Articulatory apraxia and motor alalia are the most common types of speech disorders in children with epileptic encephalopathies.

A natural language model to automate scoring of autobiographical memories.

Biases in the retrieval of personal, autobiographical memories are a core feature of multiple mental health disorders, and are associated with poor clinical prognosis. However, current assessments of memory bias are either reliant on human scoring, restricting their administration in clinical settings, or when computerized, are only able to identify one memory type. Here, we developed a natural language model able to classify text-based memories as one of five different autobiographical memory types (specific, categoric, extended, semantic associate, omission), allowing easy assessment of a wider range of memory biases, including reduced memory specificity and impaired memory flexibility. Our model was trained on 17,632 text-based, human-scored memories obtained from individuals with and without experience of memory bias and mental health challenges, which was then tested on a dataset of 5880 memories. We used 20-fold cross-validation setup, and the model was fine-tuned over BERT. Relative to benchmarking and an existing support vector model, our model achieved high accuracy (95.7%) and precision (91.0%). We provide an open-source version of the model which is able to be used without further coding, by those with no coding experience, to facilitate the assessment of autobiographical memory bias in clinical settings, and aid implementation of memory-based interventions within treatment services.

The diversity of clinical features of depressive disorders and their diagnostic challenges

Depression disorder, a mental illness characterized by persistent low mood, has a variety of symptoms, including emotional, cognitive, physiological and behavioral manifestations. However, the non-specificity of these symptoms, the differences in subjective feelings of patients, the influence of sociocultural factors, and the concealment of patients all pose challenges for the accurate diagnosis of depressive disorders. This paper discusses the clinical characteristics of depressive disorder and the challenges faced in the diagnosis process, and puts forward coping strategies and suggestions, such as detailed medical history inquiry, comprehensive physical examination, the use of standardized rating scales, and the improvement of doctors' cognition and diagnostic ability, so as to improve the diagnostic accuracy of depressive disorder and provide patients with more accurate treatment plans.

Pan-striatal reduction in the expression of the astrocytic dopamine transporter precedes the development of dorsolateral striatum dopamine-dependent incentive heroin seeking habits.

The emergence of compulsive drug-seeking habits, a hallmark feature of substance use disorder, has been shown to be predicated on the engagement of dorsolateral striatal control over behaviour. This process involves the dopamine-dependent functional coupling of the anterior dorsolateral striatum (aDLS) with the nucleus accumbens core, but the mechanisms by which this coupling occurs have not been fully elucidated. The striatum is tiled by a syncytium of astrocytes that express the dopamine transporter (DAT), the level of which is altered in individuals with heroin use disorder. Astrocytes are therefore uniquely placed functionally to bridge dopamine-dependent mechanisms across the striatum. Here we tested the hypothesis that exposure to heroin influences the expression of DAT in striatal astrocytes across the striatum before the development of DLS-dependent incentive heroin seeking habits. Using Western-blot, qPCR, and RNAscope™, we measured DAT protein and mRNA levels in whole tissue, culture and in situ astrocytes from striatal territories of rats with a well-established cue-controlled heroin seeking habit and rats trained to respond for heroin or food under continuous reinforcement. Incentive heroin seeking habits were associated with a reduction in DAT protein levels in the anterior aDLS that was preceded by a heroin-induced reduction in DAT mRNA and protein in astrocytes across the striatum. Striatal astrocytes were also shown to be susceptible to direct dopamine- and opioid-induced downregulation of DAT expression. These results suggest that astrocytes may critically regulate the striatal dopaminergic adaptations that lead to the development of incentive heroin seeking habits.

The Gold Standard Diagnosis of Schizophrenia is Counterproductive: Towards Quantitative Research and Diagnostic Algorithmic Rules (RADAR) and their Derived Qualitative Distinct Classes.

Recently, we developed Research and Diagnostic Algorithm Rules (RADAR) to assess the clinical and pathway features of mood disorders. The aims of this paper are to review a) the methodology for developing continuous RADAR scores that describe the clinical and pathway features of schizophrenia, and b) a new method to visualize the clinical status of patients and the pathways implicated in RADAR graphs. We review how to interpret clinical RADAR scores, which serve as valuable tools for monitoring the staging of illness, lifetime suicidal behaviors, overall severity of illness, a general cognitive decline index, and a behavior-cognitive-psychosocial (BCPS) index that represents the "defect"; and b) pathway RADAR scores which reflect various protective (including the compensatory immune- inflammatory system) and adverse (including neuro-immune, neuro-oxidative, and neurotoxic biomarkers) outcome pathways. Using RADAR scores and machine learning, we created new, qualitatively different types of schizophrenia, such as major neurocognitive psychosis and simple psychosis. We also made RADAR graphs, which give us a quick way to compare the patient's clinical condition and pathways to those of healthy controls. We generated a personalized fingerprint for each patient, encompassing various clinical and pathway features of the disorder represented through RADAR graphs. The latter is utilized in clinical practice to assess the clinical condition of patients and identify treatment-required pathways to mitigate the risk of recurrent episodes, worsening BCPS, and increasing staging. The quantitative clinical RADAR scores should be used in schizophrenia research as dependent variables and regressed on the pathway RADAR scores.

Identifying candidate mechanisms of comorbidity in disordered eating and posttraumatic stress disorder symptoms among U.S. veterans: A network analytic approach.

Comorbidity between posttraumatic stress disorder (PTSD) and disordered eating (DE) symptoms is common, reflecting a possible reciprocal relationship between these disorders. Network analysis may reveal candidate mechanisms underlying their comorbidity and highlight important treatment targets. Two national samples of U.S. veterans endorsing trauma exposure self-reported PTSD and DE symptoms. The discovery sample included veterans from all service eras (n = 434). The validation sample included recently separated post-9/11 veterans (n = 507). We fit graphical lasso models to evaluate the network structure of PTSD factors based on the seven-factor "hybrid" model and DE symptoms within each sample. We used strength scores to identify the most central symptoms within the networks and identified bridge symptoms connecting PTSD and DE features. We tested for network invariance between self-identified men and women within each sample and across the studies. PTSD and DE symptoms clustered as expected within networks for each sample. The strongest nodes in the networks included both PTSD and DE features. The strongest bridge symptoms in both studies included overevaluation of shape and weight, negative affect, and avoidance. Networks were invariant across men and women in each sample and largely invariant across samples. Cross-sectional network models of PTSD and DE symptoms largely replicated across national samples of U.S. veterans and between men and women within samples. Cognitive features of both disorders, along with avoidance, may partially underlie comorbidity and represent potential treatment targets. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Hyperoxia and brain: the link between necessity and injury from a molecular perspective.

Oxygen (O2) supplementation is commonly used to treat hypoxia in patients with respiratory failure. However, indiscriminate use can lead to hyperoxia, a condition detrimental to living tissues, particularly the brain. The brain is sensitive to reactive oxygen species (ROS) and inflammation caused by high concentrations of O2, which can result in brain damage and mitochondrial dysfunction, common features of neurodegenerative disorders. Hyperoxia leads to increased production of ROS, causing oxidative stress, an imbalance between oxidants and antioxidants, which can damage tissues. The brain is particularly vulnerable to oxidative stress due to its lipid composition, high O2 consumption rate, and low levels of antioxidant enzymes. Moreover, hyperoxia can cause vasoconstriction and decreased O2 supply to the brain, posing a challenge to redox balance and neurodegenerative processes. Studies have shown that the severity of hyperoxia-induced brain damage varies with inspired O2 concentration and duration of exposure. Therefore, careful evaluation of the balance between benefits and risks of O2 supplementation, especially in clinical settings, is crucial.

Psychotic-like anomalous self-experiences in feeding and eating disorders: Their role in eating psychopathology through the mediation of body uneasiness and embodiment and identity disorders.

Psychotic-like anomalous self-experiences (ASEs) are core and early features of schizophrenia spectrum disorders, which have been recently also postulated to underlie embodiment disturbance in feeding and eating disorders (FEDs). The present study was aimed at investigating the interplay between ASEs and specific psychopathology in FED. Ninety persons with Anorexia Nervosa and 41 with Bulimia Nervosa were evaluated with the inventory of psychotic-like anomalous self-experiences (IPASE), identity and eating disorders (IDEA), body uneasiness test (BUT), and eating disorder examination questionnaire (EDE-Q). The same assessment was performed for 92 subjects recruited from the general population. Structural equation modelling was employed to test the role of embodiment/identity disorders in mediating the relationship between ASEs and ED psychopathology. Patients with FED displayed high scores on IPASE, comparable with people with schizophrenia spectrum disorders. A significant correlation was also demonstrated between IPASE, BUT and EDE-Q. All IPASE domains were strongly related to feeling extraneous from one's own body by IDEA. All IPASE domains demonstrated a high relationship with BUT Depersonalization scale. A strong correlation was also reported between total scores of IPASE and IDEA. The mediation model confirmed that ASEs impact on FED symptomatology through the mediation of both embodiment/identity disorders and body image. Anomalous interoceptive processes may represent the first step of a maladaptive process-impairing embodiment, selfhood, and identity in FED. Assessment of ASEs might be a valid tool to identify an early-shared vulnerability of severe disorders characterized by embodiment alterations.

Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review.

Sanfilippo syndrome is a childhood-onset (1-4 years) autosomal recessive lysosomal storage disease that presents as a neurodegenerative disease by targeting the brain and spinal cord. It is also known as mucopolysaccharidosis III. Mucopolysaccharidosis III is divided into four subtypes (A, B, C, or D). It can cause delayed speech, behavior problems, and features of autism spectrum disorder. Sanfilippo syndrome is of a higher prevalence within consanguineous families that carry its gene alteration. If both parents have a nonfunctional copy of a gene linked to this condition, their children will have a 25% (1 in 4) chance of developing the disease. In Saudi Arabia, the incidence rate is estimated at2 per 100,000 live births. Recent research focused on promising treatment approaches, such as gene therapy, modified enzyme replacement therapy, and stem cells. These approaches work by exogenous administration of the proper version of the mutant enzyme (enzyme replacement therapy), cleaningthe defective enzyme in individuals with glycolipid storage disorders (substrate reduction therapy), or using a pharmacological chaperone to target improperly folded proteins. However, there is currently no approved curative medication for Sanfilippo syndrome that can effectively halt or reverse the disorder.

Effects of different types of induced neonatal inflammation on development and behavior of C57BL/6 and BTBR mice

Neuroinflammation in the early postnatal period can disturb trajectories of the completion of normal brain development and can lead to mental illnesses, such as depression, anxiety disorders, and personality disorders later in life. In our study, we focused on evaluating short- and long-term effects of neonatal inflammation induced by lipopolysaccharide, poly(I:C), or their combination in female and male C57BL/6 and BTBR mice. We chose the BTBR strain as potentially more susceptible to neonatal inflammation because these mice have behavioral, neuroanatomical, and physiological features of autism spectrum disorders, an abnormal immune response, and several structural aberrations in the brain. Our results indicated that BTBR mice are more sensitive to the influence of the neonatal immune activation (NIA) on the formation of neonatal reflexes than C57BL/6 mice are. In these experiments, the injection of lipopolysaccharide had an effect on the formation of the cliff aversion reflex in female BTBR mice. Nonetheless, NIA had no delayed effects on either social behavior or anxiety-like behavior in juvenile and adolescent BTBR and C57BL/6 mice. Altogether, our data show that NIA has mimetic-, age-, and strain-dependent effects on the development of neonatal reflexes and on exploratory activity in BTBR and C57BL/6 mice.

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the present study we identified a missense and a frameshift variant in a compound heterozygous state in SUPT7L in a boy with intrauterine growth retardation, generalized lipodystrophy, and additional progeroid features. SUPT7L encodes a component of the transcriptional coactivator complex STAGA. By transcriptome sequencing, we showed the predicted missense variant to cause aberrant splicing, leading to exon truncation and thereby to a complete absence of SUPT7L in dermal fibroblasts. In addition, we found altered expression of genes encoding DNA repair pathway components. This pathway was further investigated and an increased rate of DNA damage was detected in proband-derived fibroblasts and genome-edited HeLa cells. Finally, we performed transient overexpression of wildtype SUPT7L in both cellular systems, which normalizes the number of DNA damage events. Our findings suggest SUPT7L as a novel disease gene and underline the link between genome instability and progeroid phenotypes.

Features of Nightmare Disorder and Trauma-associated Sleep Disorder Among U.S. Military Personnel (S36.007)

Features of Nightmare Disorder and Trauma-associated Sleep Disorder Among U.S. Military Personnel (S36.007)

Investigation of Health-Related Quality of Life, Anxiety and Satisfaction in Patients with Pulmonary Embolism.

Features of post-traumatic stress disorder and anxiety may be present in pulmonary embolism (PE) patients, along with impaired quality of life (QoL). We aim to evaluate health-related QoL, anxiety and satisfaction with life in patients with PE. Patients with PE were enrolled during their follow-up. All participants completed the Short Form 36 (SF-36) questionnaire, the State-Trait Anxiety Inventory (STAI) X1 and X2 forms, and the Satisfaction with Life Scale (SWLS). 92 PE patients were included (mean age ± SD = 62.50 ± 15.33 years, 56.5% males). The median values of the SF-36 subscales were below the corresponding values of the Greek general population (besides the mental health (MH) subscale). Mean STAIX1 levels were 37.05 ± 11.17 and mean STAIX2 levels were 39.80 ± 10.47. Mean SWLS levels were 23.31 ± 6.58. According to multiple linear regression analysis, the MH and general health subscales were predictive of SWLS levels (F (10.76) = 10.576, p < 0.001, R2 = 0.581). The MH score (β = -0.242, p < 0.01) and STAIX1 level (β = 0.312, p < 0.001) (F (9.77) = 26.445, p < 0.001, R2 = 0.756) were predictive of STAIX2. Patients with PE exhibit slight satisfaction with life, borderline anxiety and impaired HRQoL.