Features Of Disorder Research Articles

Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases.

Cronkhite-Canada syndrome (CCS) is a very rare gastrointestinal disorder with ectodermal abnormalities. Taste abnormalities appear in more than 80% of cases. Our objective was to investigate the characteristics of CCS. Ten patients with taste abnormalities who were diagnosed with CCS were included. A medical interview, examination of the tongue findings, and blood tests were performed, and taste functions were assessed using an electrogustometry (EGM) and a filter paper disc (FPD) before and after treatment. There were nail atrophy in all cases, weight loss in 8 cases, hair loss in 6 cases, skin hyperpigmentation in 5 cases, gastrointestinal symptoms in 4 cases, and atrophy of the lingual papillae in at least 8 cases. Zinc therapy for taste disorder by the previous physicians was ineffective in all cases. The results of the FPD at the first examination showed a severe decrease in taste function of the anterior tongue, whereas taste function tended to be preserved in the posterior tongue (p<0.01, Wilcoxon). In all cases, subjective symptoms improved within 3 months after treatment of CCS. Taste function improved significantly after treatment (FPD in anterior tongue, p<0.05, EGM in posterior tongue, p<0.01, Wilcoxon). Taste disorder in CCS tended to be severe in the anterior tongue with findings of tongue papillary atrophy, which appears to be an ectodermal abnormality. Their taste function improved along with symptoms after treatment. The taste tests were useful for determining the effect of treatment for CCS.

The use of combined cognitive training and non-invasive brain stimulation to modulate impulsivity in adult populations: a systematic review and meta-analysis of existing studies

IntroductionImpulsivity, a tendency to act rashly and without forethought, is a core feature of many mental disorders that has been implicated in suicidality and offending behaviours. While research supports the use of non-invasive brain stimulation (NIBS) techniques, such as transcranial direct current stimulation (tDCS), to modulate brain functions, no studies specifically reviewed the use of combined cognitive training and NIBS to modulate impulsivity.MethodsWe aimed to conduct a systematic review and meta-analysis to synthesise the literature on the use of combined cognitive training and NIBS to modulate impulsivity and its subdomains (motor, delay discounting, reflection). We searched Scopus, PsychInfo, Medline, and Cinahl electronic databases, dissertations database, and Google scholar up to September 2024.ResultsFollowing the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, four randomised controlled studies involving the use of combined cognitive training and tDCS in 127 subjects were included in the study. These studies included subjects with substance use disorders, obesity, and Parkinson’s disease. Meta-analysis showed that combined cognitive training and tDCS had no statistically significant effects on motor impulsivity as measured using reaction times on the Stop Signal Task and Go/No Go tasks. One study that measured impulsiveness scores on a delay discounting task also showed no significant results. No studies measured reflection or cognitive impulsivity.DiscussionThere is a dearth of literature on the use of combined cognitive training and NIBS for impulsivity. This in conjunction of clinical heterogeneity across studies makes it difficult to draw definitive conclusions about the neuromodulation of impulsivity and its subdomains using combined cognitive training and NIBS. The findings of this study highlight the need to conduct more studies in the field.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/, identifier CRD 42024511576.

The potential of cognitive remediation therapy for improving the communication capabilities of adults with schizophrenia and other psychotic spectrum disorders.

Impairment in aspects of communication is a core diagnostic feature of schizophrenia and other psychotic spectrum disorders. These communication difficulties inhibit participation in a range of daily activities and affect relationships and quality of life. There has been little research focussed on communication outcomes in relation to cognitive remediation therapy within this population. Data collected as part of an implementation trial of the Computerised Interactive Remediation of Cognition and Thinking Skills (CIRCuiTS) program provided an opportunity to examine the potential for changes in communication capability to support activities of daily living. To survey changes in ratings of aspects of communication capability of adults with schizophrenia who completed the CIRCuiTS cognitive remediation therapy program. Thirty adults with schizophrenia and other psychotic spectrum disorders completed the CIRCuiTS therapy program as part of an implementation trial in 2018 and 2019. Most participants were male (93%) and inpatients at Bloomfield Hospital (73%) in Orange, New South Wales. Ratings on the Adaptive Behaviour Assessment System, Third Edition (ABAS3) were returned before and after completion of the CIRCuiTS program. The magnitude of changes in ABAS3 indices, the Communication scale and Functional academics scales were assessed between time points. Participants' mean adaptive functioning indices prior to the CIRCuiTS program were in the extremely low range (∼second percentile) and increased to the low range (∼seventh percentile) following this therapy, achieving large mean effect sizes (Cohen's d = 0.92-1.24). Significant improvements in functioning were observed on the ABAS3 Communication and Functional Academics scales, with large mean effect sizes on both scales (Cohen's d = 1.09 and 0.99 respectively). Improvements in ratings occurred on items including initiating conversations, talking and listening over longer periods, explaining more complex information, using lists and reminders and a schedule or diary, completing written forms and personal money management. Most participants were observed to make gains in aspects of communication. The results point to these aspects of communication as potential future targets for therapy with people with schizophrenia and other psychotic spectrum disorders. This study highlights the value and role of Speech and Language Therapists in cognitive remediation therapy. Further research seems warranted with participants with a broader range of demographic, clinical and functional capabilities, that controls for the effects of medications and other therapeutic interventions and utilises a more comprehensive assessment of communication. What is already known on the subject People with schizophrenia and other psychotic spectrum disorders experience impairment in cognitive functioning as well as communication capability that affects their daily functioning and quality of life. Cognitive remediation therapy has been shown to improve aspects of the daily functioning of people with schizophrenia and other psychotic spectrum disorders and is recommended in international treatment guidelines. However, very little research has been conducted to investigate the effectiveness of this therapy in addressing communication difficulties. What this paper adds to existing knowledge The present study found participants with schizophrenia and other psychotic spectrum disorders made significant improvements in important aspects of communication after completing the Computerised Interactive Remediation of Cognition and Thinking Skills cognitive remediation therapy program. The results point to the potential of cognitive remediation therapy as a therapeutic approach that is likely to improve communication capability. What are the potential or actual clinical implications of this work? Cognitive remediation therapy is likely to be an important treatment for improving the communication capabilities of people with severe mental illness. This relatively new area of clinical practice and research highlights the value and potential of speech and language therapy in improving the communication capabilities of people with schizophrenia and other psychotic spectrum disorders.

Сharacteristics of sleep disorders in persons working in conditions of ultra-high latitudes of Arctic region and possibility of their non-drug correction during Polar Day

BACKGROUND: Currently, there is an increasing expansion of Russia’s areas of interest in the Arctic region with an increase in the number of specialists of various profiles working in high and ultra-high latitudes on a long-term basis. Modern technologies effectively solve the problems of improving everyday life, reducing the influence of negative factors of the North, which makes it possible to increase the number of employees and expand the range of tasks they perform. At the same time, in these conditions, a person is constantly exposed to negative factors of the North, which affect both the effectiveness of his professional activity and his state of health. Negative factors are also seasonal in nature, associated with the peculiarities and change of the periods Polar Day — Polar Night. One of these important factors is sleep disorders, which have a negative impact on the effectiveness of professional activities, short-term and long-term changes in health. Most studies have focused on sleep disturbances in high latitude environments during the Polar Night period. AIM: The aim of the work was to study the features of sleep disorders in people working in ultra-high latitudes of the Arctic region during the Polar Day and to develop methods for their correction. MATERIALS AND METHODS: As part of the goal of the study, 208 people working on a rotational basis on the island of Alexandra Land of the Franz Josef Land archipelago during the Polar Day were examined. The study was conducted through an extended survey on sleep quality and the use of a questionnaire to assess the severity of insomnia and the daytime sleepiness scale. RESULTS: According to the results of the examination, typical sleep disturbances for the polar day period were: difficulty falling asleep, difficulty maintaining sleep (superficial sleep with frequent awakenings), early awakening, daytime (afternoon) sleepiness. At the same time, most of the subjects noted the seasonality of these complaints associated with the Polar Day period. It was revealed that the most pronounced and persistent sleep disorders are detected in persons during their stay in the Arctic zone from 1 to 3 years and after 10 years of work, which is associated in the first case with the formation of adaptation mechanisms, in the second — with their exhaustion. Factors supporting sleep disorders were identified (social and information deprivation (lack of access to Internet resources, limited communication with the mainland, etc.); physical inactivity; irregular daily shift schedule, the need to perform additional work, monotony of work, exposure to low temperatures). CONCLUSION: Non-drug correction methods have been proposed that have shown high efficacy.

Decoding Dystonia in Autoimmune Disorders: A Scoping Review.

Dystonia is a common hyperkinetic movement disorder observed in various genetic, infective, drug-induced, and autoimmune disorders. Autoimmune disorders can present with isolated or combined acute or subacute dystonia. The pattern and approach to dystonia in autoimmune disorders are poorly described and have never been established in a structured manner. This scoping review aims to summarize all available clinical literature and formulate a pattern and approach to dystonia in different autoimmune disorders. We included one hundred and three articles in this scoping review. Most articles identified were case reports or case series. In this review, we analysed data from 103 articles and summarized the epidemiological, clinical, and diagnostic features of dystonia associated with different autoimmune diseases. We highlight that dystonia can be isolated or combined in various autoimmune conditions and is responsive to immunotherapy. We point out the patterns of dystonia and associated neurological features and investigations that can suggest the underlying autoimmune nature, which can guide the most appropriate treatment. The clinical pattern of dystonia can be a unique feature in many autoimmune disorders. In isolated subacute dystonia, the presence of autoantibodies could have a temporal association, or this is just an epiphenomenon to be evaluated in further research. Many autoimmune disorders can present with isolated or combined dystonia.Subacute onset focal or segmental dystonia (craniocervical dystonia or limb dystonia) or hemidystonia could be secondary to an autoimmune condition and warrants investigations.They have a relapsing or progressive course.They usually have a good response to early immunotherapy.Symptomatic treatment, including botulinum toxin, can be useful in focal dystonia.

Neurodegeneration in the cortical sulcus is a feature of chronic traumatic encephalopathy and associated with repetitive head impacts

Neurodegeneration is a seminal feature of many neurological disorders. Chronic traumatic encephalopathy (CTE) is caused by repetitive head impacts (RHI) and is characterized by sulcal tau pathology. However, quantitative assessments of regional neurodegeneration in CTE have not been described. In this study, we quantified three key neurodegenerative measures, including cortical thickness, neuronal density, and synaptic proteins, in contact sport athletes (n = 185) and non-athlete controls (n = 52) within the sulcal depth, middle, and gyral crest of the dorsolateral frontal cortex. Cortical thickness and neuronal density were decreased within the sulcus in CTE compared to controls (p’s < 0.05). Measurements of synaptic proteins within the gyral crest showed a reduction of α-synuclein with CTE stage (p = 0.002) and variable changes in PSD-95 density. After adjusting for age, multiple linear regression models demonstrated a strong association between the duration of contact sports play and cortical thinning (p = 0.001) and neuronal loss (p = 0.032) within the sulcus. Additional regression models, adjusted for tau pathology, suggest that within the sulcus, the duration of play was associated with neuronal loss predominantly through tau pathology. In contrast, the association of duration of play with cortical thinning was minimally impacted by tau pathology. Overall, CTE is associated with cortical atrophy and a predominant sulcal neurodegeneration. Furthermore, the duration of contact sports play is associated with measures of neurodegeneration that are more severe in the cortical sulcus and may occur through tau-dependent and independent mechanisms.

Features of sleep disorders in children with psoriasis and comorbid pathologies

Purpose of the study. To analyze observations of sleep disorders in children with psoriasis and comorbid diseases.Materials and methods. This article describes clinical cases of sleep disorders in 14- and 15-year-old patients with psoriasis and comorbid diseases (psoriatic arthritis (PsA) and exogenous-constitutional obesity of the 2nd degree) who were treated at National Medical Research Center for Children’s Health of the Ministry of Health of the Russia.Results. Based on the results of collecting anamnesis and polysomnographic study (PSG), it was found that a 14-year-old child with a combination of severe plaque psoriasis (PASI index-21.3 points) and PsA had restless legs syndrome (RLS) of moderate severity, decreased sleep efficiency, and increased sleep fragmentation due to frequent awakenings. A 15-year-old patient with severe plaque psoriasis (PASI-66 score) and grade 2 exogenous-constitutional obesity had moderate obstructive sleep apnea syndrome (OSAS), as well as increased time to fall asleep, reduced sleep efficiency, and increased sleep fragmentation due to frequent awakenings.Conclusions. Sleep disorders are common in children with psoriasis and comorbid pathologies. At the same time, the implementation of a specific variant of dyssomnia or parasomnia depends on both the underlying disease and the concomitant ones.

Measuring eating behavior and motivations in the United Arab Emirates and the United States: Evaluating measurement and predictive invariance of the Eating Disorder Examination Questionnaire-Short Form and the Eating Motivation Survey.

Considerable proportions of college students in White, educated, industrialized, rich, and democratic countries, such as the United States, suffer from eating disorders and other problematic eating behaviors. The prevalence of eating disorders in Western Asia has been historically low but is rapidly increasing. One of the most dramatic increases is occurring in the United Arab Emirates. Advancements in eating disorder research and intervention that would benefit college students in the United Arab Emirates are inhibited by the lack of psychometrically sound measures of eating behaviors and motivations that have been empirically demonstrated to perform well in this population. The present study took initial steps in filling this need by evaluating the measurement and predictive invariance of the Eating Disorder Examination Questionnaire-Short Form and The Eating Motivation Survey using college student samples from the United Arab Emirates (n = 366) and United States (n = 317), followed by a series of cross-country comparisons. Results offer important evidence supporting the measurement invariance of both instruments and the predictive invariance of the The Eating Motivation Survey when used to predict scores on the Eating Disorder Examination Questionnaire-Short Form. Although no significant cross-country differences in eating disorder features and behaviors were found, some cross-country differences in eating motivations were observed. Similar eating motivations emerged in both countries as possible protective and risk factors for eating disorders. The implications of these findings for eating disorder assessment and practice are discussed, along with their implications for theory and research on eating motivations, nutritional health, and people's relationships with food. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

A Comprehensive Stereology Method for Quantitative Evaluation of Neuronal Injury, Neurodegeneration, and Neurogenesis in Brain Disorders.

Neuronal injury, neurodegeneration, and neuroanatomical changes are key pathological features of various neurological disorders, including epilepsy, stroke, traumatic brain injury, Parkinson's disease, autism, and Alzheimer's disease. Accurate quantification of neurons and interneurons in different brain regions is critical for understanding the progression of neurodegenerative disorders in animal models. Traditional scoring methods are often superficial, biased, and unreliable for evaluating neuropathology. Stereology, a quantitative tool that uses 3-dimensional visualization of cells, provides a robust protocol for evaluating neuronal injury and neurodegeneration. This article presents a comprehensive and optimized stereology protocol for unbiased quantification of neuronal injury, neurodegeneration, and neurogenesis in rat and mouse models. This protocol involves precise counting of injured neurons, surviving neurons, and interneurons through immunohistochemical processing of brain sections for NeuN(+) principal neurons, parvalbumin (PV+) interneurons, doublecortin (DCX+) newborn neurons, and Fluoro-Jade B (FJB+)-stained injured cells. Predefined hippocampal and amygdala regions were identified and analyzed using a Visiopharm stereology software-driven compound microscope. Cell density and absolute cell numbers were determined using the optical fractionation method. Our stereology protocol accurately estimated 1.5 million total NeuN(+) principal neurons and 0.05 million PV(+) interneurons in the rat hippocampus, as well as 1.2 million total principal neurons and 0.025 million interneurons in the mouse hippocampus. FJB(+) counting provided a quantitative index of damaged neurons, and the stereology of DCX(+) neurons demonstrated the extent of neurogenesis. Overall, this stereology protocol enables precise, accurate, and unbiased counting of total neurons in any brain region. This offers a reliable quantitative tool for studying neuronal injury and protection in various models of acute brain injury, neurotoxicity, and chronic neurological disorders. © 2024 Wiley Periodicals LLC. Basic Protocol 1: Stereological quantification of principal neurons, interneurons, and immature neurons in the hippocampus in rat brain sections Basic Protocol 2: Stereological quantification of principal neurons, interneurons, and immature neurons in the hippocampus in mouse brain sections Basic Protocol 3: Stereological quantification of injured or necrotized cells stained with Fluoro-Jade B in the hippocampus and amygdala in rats Basic Protocol 4: Stereological quantification of injured or necrotized cells stained with Fluoro-Jade B in the hippocampus and amygdala regions in mice Basic Protocol 5: Brain fixation and histology processing Basic Protocol 6: Immunochemistry of principal neurons, interneurons, and newborn neurons Basic Protocol 7: Fluoro-Jade B staining of injured neurons.

Isolated expressive aphasia caused by acute subdural hematoma: case report and literature review

The occurrence of aphasia as an isolated and dominant clinical feature of acute subdural hematoma (aSDH) has been rarely mentioned in the available literature. Being the most common focal intracranial lesion, subdural hematomas (SDH) pose a clinical challenge, especially when presented with unorthodox clinical features. We report a case of a patient with a traumatic aSDH, presenting with intense frontal headaches and normal neurological examination. On the 3rd postadmission day, he developed expressive dysphasia which progressed to aphasia, with neurological examination findings of an upper motor neuron lesion (UMNL), without hematoma expansion, verified via head CT (computed tomography). The patient underwent decompressive craniotomy and hematoma evacuation. Early speech improvements were noted immediately postoperatively, and at hospital discharge the patient had no evident clinical features of speech disorder and neurological deficits or tests suggesting UMNL. Speech disorders in the setting of an aSDH need to be further investigated and potentially considered as an indication for surgical management, especially in rare instances where they present as an isolated clinical feature and conservative treatment is initially considered.

Neuropsychological performances and brain perfusion patterns in patients with first episode psychosis

Abnormalities in cognition are a pronounced feature in primary psychotic disorders and may appear long before the manifestation of the first-episode psychosis (FEP). Although brain functional changes may precede structural alterations, brain perfusion patterns in FEP and most importantly their correlations with cognition remain poorly understood. In the present study we assessed neurocognitive functions and regional cerebral blood flow (rCBF) in 53 patients with a diagnosis of FEP. A special emphasis was placed on the assessment of basic executive functions. Cerebral perfusion patterns were measured by SPECT rCBF scintigraphy in cerebral lobes bilaterally and Brodmann Areas (BAs).Patients showed impairments in long-term verbal memory, processing speed/response latency and executive cognition. Pathological perfusion was prominent in the limbic lobes bilaterally. BAs with the largest hypoperfusion, were the subgenual area (BA25) and hippocampal areas (BA 28 and 36). The left temporal lobe was also hypoperfused, and specifically the inferior temporal gyrus (BA 20), the left middle (BA 21) and superior (BA 22) temporal gyrus, and the temporal pole (BA 38). Hypoperfusion was limited in the frontal regions, although specific BAs displayed pathological perfusion (i.e., BA 24). Cerebral lobe perfusion was not correlated with compromised cognitive abilities.

Repurposing Historic Drugs for Neutrophil-Mediated Inflammation in Skin Disorders

Neutrophil-mediated inflammation is a key feature of immune-mediated chronic skin disorders, but the mechanistic understanding of neutrophil involvement in these conditions remains incomplete. Dapsone, colchicine, and tetracyclines are established drugs within the dermatologist’s therapeutic armamentarium that are credited with potent anti-neutrophilic effects. Anti-neutrophilic drugs have established themselves as versatile agents in the treatment of a wide range of dermatological conditions. Some of these agents are approved for the management of specific dermatologic conditions, but most of their current uses are off-label and only supported by isolated reports or case series. Their anti-inflammatory and immunomodulatory properties make them particularly valuable in managing auto-immune bullous diseases, neutrophilic dermatoses, eosinophilic dermatoses, interface dermatitis, and granulomatous diseases that are the focus of this review. By inhibiting inflammatory pathways, reducing cytokine production, and modulating immune responses, they contribute significantly to the treatment and management of these complex skin conditions. Their use continues to evolve as our understanding of these diseases deepens, and they remain a cornerstone of dermatological therapy.

Clinical Features of Temporomandibular Disorders: Validity and Reliability of the Fonseca Anamnestic Index in Persian

Background: Temporomandibular Disorders (TMDs) are a group of disorders associated with masticatory dysfunction. TMDs are usually diagnosed late which leads to complicated treatments. Early diagnosis and treatment of TMDs are essential. Methods: A valid and reliable version of Fonseca’s Anamnestic Index (FAI) was prepared in Persian from the English version. It was used to assess TMD in 350 patients. Clinical signs of TMD were also recorded based on examination. Results: FAI scores showed 161(46%) people had TMD. There was no significant difference between occlusion classes in terms of the frequency of TMD. There was no significant difference between the mean maximum mouth opening and severity of TMD. Conclusion: In this study the validity and reliability of the FAI in Persian language, as a simple tool for TMD screening in health centers, was confirmed. Based on results, there is a relationship between clinical findings and the severity of TMD by using FAI and it can be used for screening TMD patients.

Delay Discounting and Risk Tolerance in Obsessive Compulsive Disorder: Results From the Global OCD Study

Although obsessive compulsive disorder (OCD) features maladaptive decision-making, previous research that examined economic decision-making in OCD has yielded inconsistent results. Here, we examined whether unmedicated adults with OCD ( n = 268) differ from healthy control subjects (HCSs; n = 256) on two measures of decision-making about potential rewards: (a) delay discounting, the tendency to prefer rewards sooner rather than later, even if the delayed reward is larger, and (b) risk tolerance, the willingness to gamble for uncertain rewards when the risk is known. Data were collected in Brazil, India, the Netherlands, South Africa, and the United States as part of the Global OCD study. After controlling for age, sex, education, socioeconomic status, IQ, and site, individuals with OCD did not differ from HCSs in either delay discounting or risk tolerance. However, patients with OCD who reported more anxiety and depression showed higher delay discounting, or a relative preference for immediate rewards.

Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants

The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children's Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q1, Q3)] of 22 (10, 32) months. All the patients presented with typical facial and overall developmental delay (developmental, motor and language delay). The 4 patients were found to harbor de novo heterozygous variants of the TCF4 gene, including the c.990G>A(p.S330S), c.1417_1418delinsT (p.Pro473ArgfsTer15), c.1028C>G (p.S343*) and c.500-2delinsTC. After 15 months of follow-up, all 4 patients received early rehabilitation treatment, and their gross motor function improved to varying degrees, while 3 patients had no improvement in language function. TCF4 gene variation in 4 children had phenotypic heterogeneity, and the main clinical manifestations were developmental delay, language development disorder and special facial features. Among the gene variation types, there was 1 case each of synonym variation, frameshift variation, nonsense variation and splicing variation.

The association between childhood adversity and hippocampal volumes is moderated by romantic relationship experiences

AbstractReduced hippocampal volumes are a feature of many mental disorders. Childhood maltreatment is a known risk factor for the development of psychopathology and has consistently been linked to hippocampal volume reductions in adults, but not in children and adolescents. We propose that maltreatment‐related difficulties in coping with developmental tasks in adolescence and young adulthood might underlie the delayed emergence of hippocampal volume reductions in maltreated individuals. In a study with 196 healthy young adults (mean age [years]: 24.0 ± 3.2, 50% female, 20.6% living with a partner (missings: n = 2)), we investigated the interaction between childhood maltreatment (Childhood Trauma Screener) and the breakup of a steady romantic relationship (List of Threatening Experiences Questionnaire) on hippocampal magnetic resonance imaging grey matter volumes. The experience of a romantic relationship breakup moderated the association between childhood maltreatment and bilateral hippocampal volumes, revealing more negative associations with hippocampal volumes in participants with at least one breakup compared to those with no breakup experience (right hippocampus: β = − 0.05 ± 0.02, p = 0.031, p (FDR) = 0.031; left hippocampus: β = −0.06 ± 0.02, p = 0.005, p (FDR) = 0.009). Moreover, our findings provide some evidence that childhood maltreatment is related to smaller bilateral hippocampal volumes only in those adults who suffered from a relationship breakup (right hippocampus: β = −0.23 ± 0.10, p = 0.018, p (FDR) = 0.018; left hippocampus: β = −0.24 ± 0.10, p = 0.016, p (FDR) = 0.018;). Our study highlights the interaction of adult social bonds with early adversity on vulnerability to psychopathology.

Prefrontal cortical circuits in social behaviors: an overview.

Social behaviors are fundamental and intricate functions in both humans and animals, governed by the interplay of social cognition and emotions. A noteworthy feature of several neuropsychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia (SCZ), is a pronounced deficit in social functioning. Despite a burgeoning body of research on social behaviors, the precise neural circuit mechanisms underpinning these phenomena remain to be elucidated. In this paper, we review the pivotal role of the prefrontal cortex (PFC) in modulating social behaviors, as well as its functional alteration in social disorders in ASD or SCZ. We posit that PFC dysfunction may represent a critical hub in the pathogenesis of psychiatric disorders characterized by shared social deficits. Furthermore, we delve into the intricate connectivity of the medial PFC (mPFC) with other cortical areas and subcortical brain regions in rodents, which exerts a profound influence on social behaviors. Notably, a substantial body of evidence underscores the role of N-methyl-D-aspartate receptors (NMDARs) and the proper functioning of parvalbumin-positive interneurons within the mPFC for social regulation. Our overarching goal is to furnish a comprehensive understanding of these intricate circuits and thereby contribute to the enhancement of both research endeavors and clinical practices concerning social behavior deficits.

Exercise in Postural Orthostatic Tachycardia Syndrome: Focus on Individualized Exercise Approach.

Exercise is a vital component of health and is commonly utilized as a non-pharmacologic therapy for many disorders, including postural orthostatic tachycardia syndrome (POTS). However, exercise intolerance is a key feature of POTS and other autonomic disorders and, therefore, presents a major barrier for many patients. Despite exercise being uniformly recommended as a therapeutic intervention, a majority of patients with POTS, especially those with severe orthostatic intolerance and fatigue, are unable to complete or sustain rigorous exercise programs or successfully integrate them into their daily routine. In this narrative review, we discuss the current literature on exercise and POTS and our clinical experience with a home-based exercise approach developed at the Dysautonomia Clinic. We conclude that individualized exercise programs that are delivered remotely by a certified physical therapist may be convenient, easily accessible, and safe for patients with POTS, especially those with severe symptoms who may be home- or bedbound. Future randomized controlled studies are needed to quantify and characterize the benefits of home-based exercise programs delivered remotely compared to standard therapy.

Cyclic Vomiting Syndrome in Patients Affected by Jansen-de Vries Syndrome: Results From an International Survey.

Jansen-de Vries syndrome (JdVS) is an autosomal dominant neurodevelopmental disorder with intellectual disability and gastrointestinal (GI) abnormalities, including recurrent vomiting. This study aimed to understand the frequency and severity of GI symptoms in JdVS patients and to investigate the potential association with cyclic vomiting syndrome (CVS), which has not been previously reported. An international online survey assessed the prevalence and features of CVS and GI disorders in JdVS patients using Rome IV Criteria. The anonymous survey was conducted via Google Forms in April 2021. A total of 21 patients/guardians responded to the survey. The average age at JdVS diagnosis was 8.22 years (range: 1-42). Of the respondents, 6 (28.5%) had a CVS diagnosis, 5 (23.8%) had migraine, and 2 (9.5%) had abdominal migraine. Additionally, 8 (38%) had gastroesophageal reflux disease (GERD) and 8 (38%) had functional constipation. An analysis targeted questions showed that 7 (33%) met the Rome IV Criteria for CVS but were undiagnosed, leading to a CVS prevalence of 61% in this cohort. This study highlights a high prevalence of CVS in JdVS patients and underscores the need for increased awareness and accurate diagnosis to address misdiagnosis.

Targeting glycolysis for neuroprotection in early LPS-induced neuroinflammation

Neuroinflammation is a pathophysiological feature of numerous neurological and psychiatric disorders. The immune response in the central nervous system, driven by microglia and astrocytes, leads to metabolic reprogramming towards aerobic glycolysis, a phenomenon known as the Warburg effect. The control of metabolic reprogramming via immunomodulation may represent a potential therapeutic target for providing protection against neuroinflammation, which contributes to neuronal dysfunction and death in several neurological disorders. For this purpose, we investigated putative neuroprotective effects of the downregulation of aerobic glycolysis using the 3PO inhibitor, and the downregulation of neuroinflammation using MCC950, in the early LPS-induced neuroinflammation model. The LPS-induced shift towards glycolysis, inflammatory and glial changes (IL-1β, NF-κB, COX2, Iba1, GFAP) were reversed by 3PO, which improved animal behavior. Additionally, MCC950 (an NLRP3 inhibitor) downregulated TLR4/Akt/p38 MAPK/NF-κB/STAT3 signaling, expressions of COX2 and IL-1β, and the astrocyte reactivity (decreasing GFAP) induced by early neuroinflammation, resulting in low glucose uptake. Our data support the occurrence of the Warburg effect during early neuroinflammation and suggest potential new approaches for the treatment of brain injury, given the role of neuroinflammation in such events.