The validity of diagnostic definitions in psychiatry is directly related to the extent to which their etiology can be specified. However, since detailed knowledge of causal or susceptibility factors is lacking for most psychiatric disorders with a known or suspected familial-genetic origin, the current widely accepted classification systems largely fail to achieve this ideal. To illustrate this problem, this paper looks at the difficulties posed by the criteria for schizophrenia as laid down in the International Classification of Diseases, 10th revision (ICD-10) and the Diagnostic and Statistical Manual of Mental Disorders, Third Edition, Revised (DSM-III-R), and highlights the discrepancies between the majority of diagnostic boundaries and the various phenotype aggregation patterns observed in family studies. Progress in our understanding of psychiatric disorders requires to be firmly based on the findings of epidemiological studies as well as on a clear appreciation of the limitations of classification tools.
Clement N. Mweya, Simeon P. Mwanyonga, Liness A. Ndelwa
et al.
ABSTRACT Background and Aims Dengue fever epidemics pose an increasing public health threat in Tanzania. Climate change and industrialization may influence outbreaks, while community knowledge plays a vital role in prevention. This study examined public knowledge about environmental and anthropogenic impacts on dengue transmission. Methods A cross‐sectional study was conducted from April to June 2022 with 482 participants from Bahi, Kyela, and Ngorongoro districts. A validated questionnaire assessed demographic characteristics and knowledge about dengue epidemiology related to climate and industrialization. Multinomial logistic regression and χ2 tests examined associations between variables. Results Over half of the participants (52.9%) were male, and most were aged 26–35 (33.2%). Only 21% demonstrated a good understanding of industrialization's health impacts, while 19% knew the climate change linkage with dengue. Significant knowledge gaps exist regarding climate change and industrialization impacts linked to recurrent epidemics (44.2% poor knowledge). Age over 35 (AOR 1.73, 95% CI 1.39–2.14), primary education or less (AOR 0.77, 95% CI 0.59–0.99), and unemployment (AOR 0.31, 95% CI 0.23–0.42) were associated with poor knowledge. Gender and occupation significantly predicted climate change knowledge (p < 0.001). Conclusion Communities in dengue‐endemic areas have limited knowledge about climate and anthropogenic drivers of recurring epidemics. Targeted educational interventions can improve understanding and preventative behavior among high‐risk demographics.
Una Tonkovic, Marko Bogicevic, Aarish Manzar
et al.
Hemolytic uremic syndrome (HUS), a thrombotic microangiopathy primarily affecting the kidneys, can also involve the central nervous system (CNS), often leading to significant morbidity and mortality. Neurologic manifestations are among the most severe extra-renal complications, particularly in children and during outbreaks of Shiga toxin-producing Escherichia coli (STEC)-associated HUS (typical (tHUS)). This review explores the clinical spectrum, pathophysiology, diagnostic workup, and age-specific outcomes of neurologic involvement in both typical (tHUS) and atypical (aHUS). Neurologic complications occur in up to 11% of pediatric and over 40% of adult STEC-HUS cases in outbreak settings. Presentations include seizures, encephalopathy, focal deficits, movement disorders, and posterior reversible encephalopathy syndrome (PRES). Magnetic resonance imaging (MRI) commonly reveals basal ganglia or parieto-occipital lesions, though subtle or delayed findings may occur. Laboratory workup typically confirms microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and kidney damage, with additional markers of inflammation or metabolic dysregulation. Eculizumab is the first-line treatment for aHUS with CNS involvement, while its utility in STEC-HUS remains uncertain. Although many children recover fully, those with early CNS involvement are at greater risk of developing epilepsy, cognitive delays, or fine motor deficits. Adults may experience lingering neurocognitive symptoms despite apparent clinical recovery. Differences in presentation and imaging findings between age groups emphasize the need for tailored diagnostic and therapeutic strategies. Comprehensive neurorehabilitation and long-term follow-up are crucial for identifying residual deficits. Continued research into predictive biomarkers, neuroprotective interventions, and standardized treatment protocols is needed for improving outcomes in HUS patients with neurological complications.
ObjectivesLymphoma patients often experience significant physical and psychological stress, with feelings of powerlessness negatively impacting their health. While social support and hope are crucial for improving mood and coping with disease, their mechanisms in relation to disease perception and powerlessness remain unclear. This study aimed to examine the relationship between disease perception and feelings of powerlessness in lymphoma patients, focusing on the mediating roles of social support and hope.MethodsFor a cross-sectional design, 311 lymphoma patients were surveyed using the Brief illness perception questionnaire, Powerlessness assessment tool, Social Support Rating Scale, and Herth’s Hope Scale, and were statistically analyzed using the software SPSS 27.0 and PROCESS version 4.1.ResultsA correlation was found between the disease perception, social support, hope level, and feeling of powerlessness of lymphoma patients (P < 0.01). There was a positive correlation between perceptions of illness and powerlessness (β= 0.291, P<0.001), and disease perception could influence powerlessness through three indirect pathways: the separate mediating effect of social support [β= 0.057, 95%CI (0.029~0.091)], the separate mediating effect of level of hope [β= 0.07, 95%CI (0.034~ 0.107)], and the chain mediating effect of social support and hope level [β= 0.019, 95%CI (0.008~0.033)]. Social support and level of hope played a partial medium mediating effect in the effect of perceived disease on feelings of powerlessness, accounting for 13.04% and 16.02% of the total effect, respectively, and the chained mediating effect of both accounted for 4.35% of the total effect.ConclusionsDisease perception and powerlessness were positively correlated in lymphoma patients, and in addition, social support and level of hope mediated the relationship. This conclusion provides a theoretical basis and guidance for nursing interventions to reduce powerlessness in lymphoma patients.
Asif Naveed Ahmed, Lettie E. Rawlins, Niamat Khan
et al.
Abstract Background Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration. HMSN is highly clinically and genetically heterogeneous with multiple inheritance patterns and phenotypic overlap with other inherited neuropathies and neurodegenerative diseases. Due to this high complexity and genetic heterogeneity, this study aimed to elucidate the genetic causes of HMSN in Pakistani families using Whole Exome Sequencing (WES) for variant identification and Sanger sequencing for validation and segregation analysis, facilitating accurate clinical diagnosis. Methods Families from Khyber Pakhtunkhwa with at least two members showing HMSN symptoms, who had not previously undergone genetic analysis, were included. Referrals for genetic investigations were based on clinical features suggestive of HMSN by local neurologists. WES was performed on affected individuals from each family, with Sanger sequencing used to validate and analyze the segregation of identified variants among family members. Clinical data including age of onset were assessed for variability among affected individuals, and the success rate of genetic diagnosis was compared with existing literature using proportional differences and Cohen’s h. Results WES identified homozygous pathogenic variants in GDAP1 (c.310 + 4 A > G, p.?), SETX (c.5948_5949del, p.(Asn1984Profs*30), IGHMBP2 (c.1591 C > A, p.(Pro531Thr) and NARS1 (c.1633 C > T, p.(Arg545Cys) as causative for HMSN in five out of nine families, consistent with an autosomal recessive inheritance pattern. Additionally, in families with HMSN, a SETX variant was found to cause cerebellar ataxia, while a NARS1 variant was linked to intellectual disability. Based on American College of Medical Genetics and Genomics criteria, the GDAP1 variant is classified as a variant of uncertain significance, while variants in SETX and IGHMBP2 are classified as pathogenic, and the NARS1 variant is classified as likely pathogenic. The age of onset ranged from 1 to 15 years (Mean = 5.13, SD = 3.61), and a genetic diagnosis was achieved in 55.56% of families with HMSN, with small effect sizes compared to previous studies. Conclusions This study expands the molecular genetic spectrum of HMSN and HMSN plus type neuropathies in Pakistan and facilitates accurate diagnosis, genetic counseling, and clinical management for affected families.
Markanday Sharma, Prateek Yadav, Srikrishna P. Panda
Diagnostic and interventional aspects of psychiatric care can be augmented by the use of digital health technologies. Recent studies have tried to explore the use of artificial intelligence-driven technologies in screening, diagnosing, and treating psychiatric disorders. This short communication presents a current perspective on using Artificial Intelligence in psychiatry.
Introduction: Children with special needs are often considered to be cursed. They are frequently ostracized from society thus making them feel lonely. This paper aims to help patients, especially children with special needs, find good friends through the review of current studies. Methods: This study used a descriptive quantitative method and data that was retrieved from Child and Adolescence Psychiatric Outpatients Daycare, Dr. Soetomo General Academic Hospital, Surabaya with 80 children with ADHD and 160 children with ASD. Results: A common intervention used in Indonesia is applied behavior analysis (ABA), a method that trains children to have social skills such as how to communicate, interact, and express themselves in social settings. Besides personal intervention, the need for integrated care for children with special needs such as pharmacological therapy, speech and behavioral therapy, occupational therapy, and special education, is needed to support them in helping them make friends. Conclusion: To help children with special needs make friends, we can give support, appreciation, and motivation. However, children with special needs need different treatment from their peers, so special attention and understanding are needed so that children with special needs can socialize and make friends well.
Keywords: Children, Special Needs, Friends, Mental Health, Loneliness
BackgroundParkinson’s disease (PD) is a prevalent neurodegenerative disorder that significantly benefits from early diagnosis for effective disease management and intervention. Despite advancements in medical technology, there remains a critical gap in the early and non-invasive detection of PD. Current diagnostic methods are often invasive, expensive, or late in identifying the disease, leading to missed opportunities for early intervention.ObjectiveThe goal of this study is to explore the efficiency and accuracy of combining fNIRS technology with machine learning algorithms in diagnosing early-stage PD patients and to evaluate the feasibility of this approach in clinical practice.MethodsUsing an ETG-4000 type near-infrared brain function imaging instrument, data was collected from 120 PD patients and 60 healthy controls. This cross-sectional study employed a multi-channel mode to monitor cerebral blood oxygen changes. The collected data were processed using a general linear model and β values were extracted. Subsequently, four types of machine learning models were developed for analysis: Support vector machine (SVM), K-nearest neighbors (K-NN), random forest (RF), and logistic regression (LR). Additionally, SHapley Additive exPlanations (SHAP) technology was applied to enhance model interpretability.ResultsThe SVM model demonstrated higher accuracy in differentiating between PD patients and control group (accuracy of 85%, f1 score of 0.85, and an area under the ROC curve of 0.95). SHAP analysis identified the four most contributory channels (CH) as CH01, CH04, CH05, and CH08.ConclusionThe model based on the SVM algorithm exhibited good diagnostic performance in the early detection of PD patients. Future early diagnosis of PD should focus on the Frontopolar Cortex (FPC) region.
Nicolas A. Nunez, Boney Joseph, Rakesh Kumar
et al.
Ketamine has shown rapid antidepressant and anti-suicidal effects in treatment-resistant depression (TRD) with single and serial intravenous (IV) infusions, but the effectiveness for depressive episodes of bipolar disorder is less clear. We conducted an updated systematic review and meta-analysis to appraise the current evidence on the efficacy and tolerability of ketamine/esketamine in bipolar depression. A search was conducted to identify randomized controlled trials (RCTs) and non-randomized studies examining single or multiple infusions of ketamine or esketamine treatments. A total of 2657 articles were screened; 11 studies were included in the systematic review of which 7 studies were included in the meta-analysis (five non-randomized, N = 159; two RCTs, N = 33) with a mean age of 42.58 ± 13.1 years and 54.5% females. Pooled analysis from two RCTs showed a significant improvement in depression symptoms measured with MADRS after receiving a single infusion of ketamine (1-day WMD = −11.07; and 2 days WMD = −12.03). Non-randomized studies showed significant response (53%, <i>p</i> < 0.001) and remission rates (38%, <i>p</i> < 0.001) at the study endpoint. The response (54% vs. 55%) and remission (30% vs. 40%) rates for single versus serial ketamine infusion studies were similar. The affective switch rate in the included studies approximated 2.4%. Esketamine data for bipolar depression are limited, based on non-randomized, small sample-sized studies. Further studies with larger sample sizes are required to strengthen the evidence.
Introduction
Schizophrenia is a neurodevelopmental process affecting approximately 1% of the population. Multiple studies have found that Childhood trauma is an important risk factor in the emergence and clinical course of schizophrenia.
Objectives
The purpose of this study was to assess the characteristics of schizophrenic inpatients with childhood trauma among a tunisian sample.
Methods
Stabilized inpatients with schizophrenia at the Psychiatry C department at University Hospital in Sfax were involved in our study. Sociodemographic and clinical data of patients were collected from medical records.
We used Childhood Trauma Questionnaire-Short Form (CTQ-SF) to evaluate the occurrence of childhood maltreatment.
Results
We recruited 33 patients, all men with a mean age of 35 years and 4 months (SD=9.44 years).
They were married in 6.1% and 24.2% of patients had regular work.
The mean age of onset of the disorder was 24.42(3.25).The level of poor psychotropic medication adherence was 72.7%.
According to CTQ-SF, 78.8% of patients had experienced child trauma with a mean score of 35.67 (SD =8.61).
A rate of 39.4% reported having experienced one child trauma, while 60.6% reported having experienced more than one.
We found high rates of emotional neglect (87.8%) while emotional and physical abuse during childhood were experienced by 39.4%, and 6% respectively and physical neglect were found in 30.3% of cases.
Patients with more than one childhood trauma were found to have an earlier onset of psychosis (p=0.004)
The occurrence of childhood trauma was not associated with the socio-demographic characteristics of the respondents or the clinical features of the disease.
Conclusions
The results point toward childhood emotional neglect being of specific importance to schizophrenia, which may be an area for future prevention and clinical attention.
Disclosure of Interest
None Declared